{ "HP:0000001": { "name": [ "all", "all" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C0444868" ], "is_a": [], "is_obsolete": "", "replace_id": "" }, "HP:0000002": { "name": [ "abnormality of body height", "abnormality of body height" ], "alt_id": [], "def": "Deviation from the norm of height with respect to that which is expected according to age and gender norms.", "synonym": [ [ "abnormality of body height", "abnormality of body height" ] ], "xref": [ "UMLS:C4025901" ], "is_a": [ "HP:0001507" ], "is_obsolete": "", "replace_id": "" }, "HP:0000003": { "name": [ "multicystic kidney dysplasia", "multicystic kidney dysplasia" ], "alt_id": [ "HP:0004715" ], "def": "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.", "synonym": [ [ "multicystic dysplastic kidney", "multicystic dysplastic kidney" ], [ "multicystic kidneys", "multicystic kidney" ], [ "multicystic renal dysplasia", "multicystic renal dysplasia" ] ], "xref": [ "MSH:D021782", "SNOMEDCT_US:204962002", "SNOMEDCT_US:82525005", "UMLS:C3714581" ], "is_a": [ "HP:0000107" ], "is_obsolete": "", "replace_id": "" }, "HP:0000005": { "name": [ "mode of inheritance", "mode of inheritance" ], "alt_id": [ "HP:0001453", "HP:0001461" ], "def": "The pattern in which a particular genetic trait or disorder is passed from one generation to the next.", "synonym": [ [ "inheritance", "inheritance" ] ], "xref": [ "UMLS:C1708511" ], "is_a": [ "HP:0000001" ], "is_obsolete": "", "replace_id": "" }, "HP:0000006": { "name": [ "autosomal dominant inheritance", "autosomal dominant inheritance" ], "alt_id": [ "HP:0001415", "HP:0001447", "HP:0001448", "HP:0001451", "HP:0001455", "HP:0001456", "HP:0001463" ], "def": "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.", "synonym": [ [ "autosomal dominant", "autosomal dominant" ], [ "autosomal dominant form", "autosomal dominant form" ], [ "autosomal dominant type", "autosomal dominant type" ] ], "xref": [ "SNOMEDCT_US:263681008", "UMLS:C0443147" ], "is_a": [ "HP:0000005" ], "is_obsolete": "", "replace_id": "" }, "HP:0000007": { "name": [ "autosomal recessive inheritance", "autosomal recessive inheritance" ], "alt_id": [ "HP:0001416", "HP:0001526" ], "def": "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).", "synonym": [ [ "autosomal recessive", "autosomal recessive" ], [ "autosomal recessive form", "autosomal recessive form" ], [ "autosomal recessive predisposition", "autosomal recessive predisposition" ] ], "xref": [ "SNOMEDCT_US:258211005", "UMLS:C0441748", "UMLS:C4020899" ], "is_a": [ "HP:0000005" ], "is_obsolete": "", "replace_id": "" }, "HP:0000008": { "name": [ "abnormal morphology of female internal genitalia", "abnormal morphology of female internal genitalia" ], "alt_id": [], "def": "An abnormality of the female internal genitalia.", "synonym": [ [ "abnormality of female internal genitalia", "abnormality of female internal genitalia" ] ], "xref": [ "UMLS:C4025900" ], "is_a": [ "HP:0000812", "HP:0010460" ], "is_obsolete": "", "replace_id": "" }, "HP:0000009": { "name": [ "functional abnormality of the bladder", "functional abnormality of the bladder" ], "alt_id": [ "HP:0004424", "HP:0008731" ], "def": "Dysfunction of the urinary bladder.", "synonym": [ [ "poor bladder function", "poor bladder function" ] ], "xref": [ "UMLS:C3806583" ], "is_a": [ "HP:0000014" ], "is_obsolete": "", "replace_id": "" }, "HP:0000010": { "name": [ "recurrent urinary tract infections", "recurrent urinary tract infection" ], "alt_id": [ "HP:0000094" ], "def": "Repeated infections of the urinary tract.", "synonym": [ [ "frequent urinary tract infections", "frequent urinary tract infection" ], [ "recurrent utis", "recurrent utis" ], [ "repeated bladder infections", "repeat bladder infection" ], [ "repeated urinary tract infections", "repeat urinary tract infection" ], [ "urinary tract infections", "urinary tract infection" ], [ "urinary tract infections , recurrent", "urinary tract infection , recurrent" ] ], "xref": [ "SNOMEDCT_US:197927001", "UMLS:C0262655" ], "is_a": [ "HP:0002719", "HP:0011277" ], "is_obsolete": "", "replace_id": "" }, "HP:0000011": { "name": [ "neurogenic bladder", "neurogenic bladder" ], "alt_id": [], "def": "A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.", "synonym": [ [ "lack of bladder control due to nervous system injury", "lack of bladder control due to nervous system injury" ] ], "xref": [ "MSH:D001750", "SNOMEDCT_US:397732007", "SNOMEDCT_US:398064005", "UMLS:C0005697" ], "is_a": [ "HP:0000009" ], "is_obsolete": "", "replace_id": "" }, "HP:0000012": { "name": [ "urinary urgency", "urinary urgency" ], "alt_id": [], "def": "Urge incontinence is the strong, sudden need to urinate.", "synonym": [ [ "overactive bladder", "overactive bladder" ], [ "overactive bladder syndrome", "overactive bladder syndrome" ], [ "urgency frequency syndrome", "urgency frequency syndrome" ], [ "urinary urgency", "urinary urgency" ] ], "xref": [ "SNOMEDCT_US:75088002", "UMLS:C0085606", "UMLS:C3544092", "UMLS:C4020898" ], "is_a": [ "HP:0000009" ], "is_obsolete": "", "replace_id": "" }, "HP:0000013": { "name": [ "hypoplasia of the uterus", "hypoplasia of the uterus" ], "alt_id": [ "HP:0001154", "HP:0008637" ], "def": "Underdevelopment of the uterus.", "synonym": [ [ "hypoplastic uterus", "hypoplastic uterus" ], [ "rudimentary uterus", "rudimentary uterus" ], [ "small uterus", "small uterus" ], [ "underdeveloped uterus", "underdeveloped uterus" ] ], "xref": [ "SNOMEDCT_US:35850006", "UMLS:C0266399" ], "is_a": [ "HP:0008684" ], "is_obsolete": "", "replace_id": "" }, "HP:0000014": { "name": [ "abnormality of the bladder", "abnormality of the bladder" ], "alt_id": [], "def": "An abnormality of the urinary bladder.", "synonym": [], "xref": [ "UMLS:C0149632" ], "is_a": [ "HP:0010936" ], "is_obsolete": "", "replace_id": "" }, "HP:0000015": { "name": [ "bladder diverticulum", "bladder diverticulum" ], "alt_id": [], "def": "Diverticulum (sac or pouch) in the wall of the urinary bladder.", "synonym": [ [ "bladder diverticula", "bladder diverticulum" ] ], "xref": [ "MSH:C562406", "SNOMEDCT_US:197866008", "UMLS:C0156273" ], "is_a": [ "HP:0025487" ], "is_obsolete": "", "replace_id": "" }, "HP:0000016": { "name": [ "urinary retention", "urinary retention" ], "alt_id": [], "def": "Inability to completely empty the urinary bladder during the process of urination.", "synonym": [ [ "increased post - void residual urine volume", "increase post - void residual urine volume" ] ], "xref": [ "MSH:D016055", "SNOMEDCT_US:130951007", "SNOMEDCT_US:267064002", "SNOMEDCT_US:449491000124101", "UMLS:C0080274" ], "is_a": [ "HP:0000009" ], "is_obsolete": "", "replace_id": "" }, "HP:0000017": { "name": [ "nocturia", "nocturia" ], "alt_id": [], "def": "Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.", "synonym": [ [ "nycturia", "nycturia" ] ], "xref": [ "MSH:D053158", "SNOMEDCT_US:139394000", "UMLS:C0028734" ], "is_a": [ "HP:0000009" ], "is_obsolete": "", "replace_id": "" }, "HP:0000019": { "name": [ "urinary hesitancy", "urinary hesitancy" ], "alt_id": [], "def": "Difficulty in beginning the process of urination.", "synonym": [ [ "difficulty with flow", "difficulty with flow" ] ], "xref": [ "SNOMEDCT_US:5972002", "UMLS:C0152032" ], "is_a": [ "HP:0000009" ], "is_obsolete": "", "replace_id": "" }, "HP:0000020": { "name": [ "urinary incontinence", "urinary incontinence" ], "alt_id": [ "HP:0006942", "HP:0008681" ], "def": "Loss of the ability to control the urinary bladder leading to involuntary urination.", "synonym": [ [ "bladder incontinence", "bladder incontinence" ], [ "loss of bladder control", "loss of bladder control" ] ], "xref": [ "MSH:D014549", "SNOMEDCT_US:165232002", "UMLS:C0042024" ], "is_a": [ "HP:0000009", "HP:0031064" ], "is_obsolete": "", "replace_id": "" }, "HP:0000021": { "name": [ "megacystis", "megacystis" ], "alt_id": [ "HP:0002838" ], "def": "Dilatation of the bladder postnatally.", "synonym": [], "xref": [ "MSH:C536139", "UMLS:C1855311" ], "is_a": [ "HP:0010955" ], "is_obsolete": "", "replace_id": "" }, "HP:0000022": { "name": [ "abnormality of male internal genitalia", "abnormality of male internal genitalia" ], "alt_id": [], "def": "An abnormality of the male internal genitalia.", "synonym": [], "xref": [ "UMLS:C4025899" ], "is_a": [ "HP:0000812", "HP:0010461" ], "is_obsolete": "", "replace_id": "" }, "HP:0000023": { "name": [ "inguinal hernia", "inguinal hernia" ], "alt_id": [], "def": "Protrusion of the contents of the abdominal cavity through the inguinal canal.", "synonym": [], "xref": [ "MEDDRA:10022016 \"Inguinal hernia\"", "MSH:D006552", "SNOMEDCT_US:396232000", "UMLS:C0019294" ], "is_a": [ "HP:0004299" ], "is_obsolete": "", "replace_id": "" }, "HP:0000024": { "name": [ "prostatitis", "prostatitis" ], "alt_id": [], "def": "The presence of inflammation of the prostate.", "synonym": [ [ "inflammation of the prostate", "inflammation of the prostate" ] ], "xref": [ "MSH:D011472", "SNOMEDCT_US:9713002", "UMLS:C0033581" ], "is_a": [ "HP:0008775", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0000025": { "name": [ "functional abnormality of male internal genitalia", "functional abnormality of male internal genitalia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025898" ], "is_a": [ "HP:0012874" ], "is_obsolete": "", "replace_id": "" }, "HP:0000026": { "name": [ "male hypogonadism", "male hypogonadism" ], "alt_id": [ "HP:0008649" ], "def": "Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.", "synonym": [ [ "decreased function of male gonad", "decrease function of male gonad" ] ], "xref": [ "MSH:D005058", "SNOMEDCT_US:48723006", "UMLS:C0151721" ], "is_a": [ "HP:0000025", "HP:0000135" ], "is_obsolete": "", "replace_id": "" }, "HP:0000027": { "name": [ "azoospermia", "azoospermia" ], "alt_id": [], "def": "Absence of any measurable level of sperm in his semen.", "synonym": [ [ "absent sperm in semen", "absent sperm in semen" ] ], "xref": [ "MSH:D053713", "SNOMEDCT_US:425558002", "SNOMEDCT_US:48188009", "UMLS:C0004509" ], "is_a": [ "HP:0008669" ], "is_obsolete": "", "replace_id": "" }, "HP:0000028": { "name": [ "cryptorchidism", "cryptorchidism" ], "alt_id": [ "HP:0000797" ], "def": "Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.", "synonym": [ [ "cryptorchism", "cryptorchism" ], [ "undescended testes", "undescended testis" ], [ "undescended testis", "undescended testis" ] ], "xref": [ "Fyler:4493", "MSH:D003456", "SNOMEDCT_US:204878001", "UMLS:C0010417" ], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0000029": { "name": [ "testicular atrophy", "testicular atrophy" ], "alt_id": [], "def": "Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.", "synonym": [ [ "testicular degeneration", "testicular degeneration" ] ], "xref": [ "SNOMEDCT_US:17585008", "UMLS:C0156312" ], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0000030": { "name": [ "testicular gonadoblastoma", "testicular gonadoblastoma" ], "alt_id": [], "def": "The presence of a gonadoblastoma of the testis.", "synonym": [ [ "gonadoblastoma , male", "gonadoblastoma , male" ] ], "xref": [ "NCIT:C3754", "UMLS:C1515283" ], "is_a": [ "HP:0000150", "HP:0010788" ], "is_obsolete": "", "replace_id": "" }, "HP:0000031": { "name": [ "epididymitis", "epididymitis" ], "alt_id": [], "def": "The presence of inflammation of the epididymis.", "synonym": [], "xref": [ "MSH:D004823", "SNOMEDCT_US:31070006", "UMLS:C0014534" ], "is_a": [ "HP:0009714", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0000032": { "name": [ "abnormality of male external genitalia", "abnormality of male external genitalia" ], "alt_id": [], "def": "An abnormality of male external genitalia.", "synonym": [], "xref": [ "UMLS:C4025897" ], "is_a": [ "HP:0000811", "HP:0010461" ], "is_obsolete": "", "replace_id": "" }, "HP:0000033": { "name": [ "ambiguous genitalia , male", "ambiguous genitalia , male" ], "alt_id": [], "def": "Ambiguous genitalia in an individual with XY genetic gender.", "synonym": [ [ "ambiguous genitalia in males", "ambiguous genitalia in male" ] ], "xref": [ "UMLS:C4021823" ], "is_a": [ "HP:0000032", "HP:0000062" ], "is_obsolete": "", "replace_id": "" }, "HP:0000034": { "name": [ "hydrocele testis", "hydrocele testis" ], "alt_id": [], "def": "Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.", "synonym": [ [ "hydrocele", "hydrocele" ], [ "testicular hydrocele", "testicular hydrocele" ] ], "xref": [ "MSH:D006848", "SNOMEDCT_US:26614003", "SNOMEDCT_US:386152007", "SNOMEDCT_US:55434001", "UMLS:C1720771" ], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0000035": { "name": [ "abnormal testis morphology", "abnormal testis morphology" ], "alt_id": [], "def": "An anomaly of the testicle (the male gonad).", "synonym": [ [ "abnormality of the testis", "abnormality of the testis" ], [ "anomaly of the testes", "anomaly of the testis" ] ], "xref": [ "SNOMEDCT_US:55631001", "UMLS:C0266423" ], "is_a": [ "HP:0000032" ], "is_obsolete": "", "replace_id": "" }, "HP:0000036": { "name": [ "abnormal penis morphology", "abnormal penis morphology" ], "alt_id": [], "def": "Abnormality of the male external sex organ.", "synonym": [ [ "abnormality of the penis", "abnormality of the penis" ] ], "xref": [ "UMLS:C4025896" ], "is_a": [ "HP:0000032" ], "is_obsolete": "", "replace_id": "" }, "HP:0000037": { "name": [ "male pseudohermaphroditism", "male pseudohermaphroditism" ], "alt_id": [], "def": "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.", "synonym": [], "xref": [ "MSH:D058490", "SNOMEDCT_US:111332007", "UMLS:C0238395" ], "is_a": [ "HP:0000032" ], "is_obsolete": "", "replace_id": "" }, "HP:0000039": { "name": [ "epispadias", "epispadias" ], "alt_id": [], "def": "Displacement of the urethral opening on the dorsal (superior) surface of the penis.", "synonym": [], "xref": [ "SNOMEDCT_US:406477003", "UMLS:C0563449" ], "is_a": [ "HP:0100627" ], "is_obsolete": "", "replace_id": "" }, "HP:0000040": { "name": [ "long penis", "long penis" ], "alt_id": [], "def": "Penile length more than 2 SD above the mean for age.", "synonym": [ [ "enlarged penis", "enlarge penis" ], [ "long penis", "long penis" ] ], "xref": [ "SNOMEDCT_US:88673001", "UMLS:C0269011" ], "is_a": [ "HP:0000036" ], "is_obsolete": "", "replace_id": "" }, "HP:0000041": { "name": [ "chordee", "chordee" ], "alt_id": [], "def": "Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.", "synonym": [], "xref": [ "SNOMEDCT_US:4287008", "UMLS:C0221182" ], "is_a": [ "HP:0000036" ], "is_obsolete": "", "replace_id": "" }, "HP:0000042": { "name": [ "absent external genitalia", "absent external genitalia" ], "alt_id": [], "def": "Lack of external genitalia in a male or female individual.", "synonym": [ [ "absent external genitalia", "absent external genitalia" ] ], "xref": [ "UMLS:C1848869" ], "is_a": [ "HP:0000811" ], "is_obsolete": "", "replace_id": "" }, "HP:0000044": { "name": [ "hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism" ], "alt_id": [ "HP:0003335", "HP:0008224" ], "def": "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).", "synonym": [ [ "hypogonadotrophic hypogonadism", "hypogonadotrophic hypogonadism" ], [ "isolated hypogonadotropic hypogonadism", "isolated hypogonadotropic hypogonadism" ], [ "low gonadotropins ( secondary hypogonadism )", "low gonadotropin ( secondary hypogonadism )" ] ], "xref": [ "MSH:D007006", "SNOMEDCT_US:33927004", "UMLS:C0271623", "UMLS:C3489396" ], "is_a": [ "HP:0000135" ], "is_obsolete": "", "replace_id": "" }, "HP:0000045": { "name": [ "abnormality of the scrotum", "abnormality of the scrotum" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025895" ], "is_a": [ "HP:0000032" ], "is_obsolete": "", "replace_id": "" }, "HP:0000046": { "name": [ "scrotal hypoplasia", "scrotal hypoplasia" ], "alt_id": [], "def": "", "synonym": [ [ "hypoplastic scrotum", "hypoplastic scrotum" ], [ "smaller than typical growth of scrotum", "small than typical growth of scrotum" ] ], "xref": [ "SNOMEDCT_US:204912007", "UMLS:C0431659" ], "is_a": [ "HP:0000045", "HP:0000050" ], "is_obsolete": "", "replace_id": "" }, "HP:0000047": { "name": [ "hypospadias", "hypospadias" ], "alt_id": [], "def": "Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.", "synonym": [ [ "hypospadia", "hypospadia" ] ], "xref": [ "Fyler:4504", "SNOMEDCT_US:204888000", "UMLS:C1691215" ], "is_a": [ "HP:0100627" ], "is_obsolete": "", "replace_id": "" }, "HP:0000048": { "name": [ "bifid scrotum", "bifid scrotum" ], "alt_id": [], "def": "Midline indentation or cleft of the scrotum.", "synonym": [ [ "cleft of scrotum", "cleft of scrotum" ], [ "scrotal cleft", "scrotal cleft" ] ], "xref": [ "SNOMEDCT_US:236780002", "UMLS:C0341787" ], "is_a": [ "HP:0000045" ], "is_obsolete": "", "replace_id": "" }, "HP:0000049": { "name": [ "shawl scrotum", "shawl scrotum" ], "alt_id": [], "def": "Superior margin of the scrotum superior to the base of the penis.", "synonym": [ [ "overriding scrotum", "override scrotum" ], [ "scrotum surrounds penis", "scrotum surround penis" ] ], "xref": [ "UMLS:C1858539" ], "is_a": [ "HP:0000045" ], "is_obsolete": "", "replace_id": "" }, "HP:0000050": { "name": [ "hypoplastic male external genitalia", "hypoplastic male external genitalia" ], "alt_id": [ "HP:0008710", "HP:0008721" ], "def": "Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).", "synonym": [ [ "hypoplastic male genitalia", "hypoplastic male genitalia" ], [ "small male external genitalia", "small male external genitalia" ], [ "underdeveloped male genitalia", "underdeveloped male genitalia" ] ], "xref": [ "UMLS:C1852534" ], "is_a": [ "HP:0000032", "HP:0003241" ], "is_obsolete": "", "replace_id": "" }, "HP:0000051": { "name": [ "perineal hypospadias", "perineal hypospadias" ], "alt_id": [], "def": "Hypospadias with location of the urethral meatus in the perineal region.", "synonym": [], "xref": [ "SNOMEDCT_US:204890004", "UMLS:C0452148" ], "is_a": [ "HP:0000047" ], "is_obsolete": "", "replace_id": "" }, "HP:0000052": { "name": [ "urethral atresia , male", "urethral atresia , male" ], "alt_id": [], "def": "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males.", "synonym": [], "xref": [ "UMLS:C4025894" ], "is_a": [ "HP:0000068" ], "is_obsolete": "", "replace_id": "" }, "HP:0000053": { "name": [ "macroorchidism", "macroorchidism" ], "alt_id": [], "def": "The presence of abnormally large testes.", "synonym": [ [ "large testicles", "large testicle" ], [ "large testis", "large testis" ] ], "xref": [ "UMLS:C1263023" ], "is_a": [ "HP:0045058" ], "is_obsolete": "", "replace_id": "" }, "HP:0000054": { "name": [ "micropenis", "micropenis" ], "alt_id": [ "HP:0000038" ], "def": "Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.", "synonym": [ [ "short penis", "short penis" ], [ "small penis", "small penis" ] ], "xref": [ "SNOMEDCT_US:34911001", "UMLS:C4551492" ], "is_a": [ "HP:0008736" ], "is_obsolete": "", "replace_id": "" }, "HP:0000055": { "name": [ "abnormality of female external genitalia", "abnormality of female external genitalia" ], "alt_id": [], "def": "An abnormality of the female external genitalia.", "synonym": [ [ "abnormal female external genitalia", "abnormal female external genitalia" ] ], "xref": [ "UMLS:C4021822" ], "is_a": [ "HP:0000811", "HP:0010460" ], "is_obsolete": "", "replace_id": "" }, "HP:0000056": { "name": [ "abnormality of the clitoris", "abnormality of the clitoris" ], "alt_id": [], "def": "An abnormality of the clitoris.", "synonym": [ [ "abnormality of the clit", "abnormality of the clit" ] ], "xref": [ "UMLS:C4025893" ], "is_a": [ "HP:0000055" ], "is_obsolete": "", "replace_id": "" }, "HP:0000057": { "name": [ "obsolete clitoromegaly", "obsolete clitoromegaly" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0008665" }, "HP:0000058": { "name": [ "abnormal labia morphology", "abnormal labium morphology" ], "alt_id": [], "def": "An anomaly of the labia, the externally visible portions of the vulva.", "synonym": [ [ "abnormality of the labia", "abnormality of the labium" ] ], "xref": [ "UMLS:C4025892" ], "is_a": [ "HP:0000055" ], "is_obsolete": "", "replace_id": "" }, "HP:0000059": { "name": [ "hypoplastic labia majora", "hypoplastic labium majora" ], "alt_id": [], "def": "Undergrowth of the outer labia.", "synonym": [ [ "hypoplasia of labia majora", "hypoplasia of labium majora" ], [ "small labia majora", "small labium majora" ], [ "underdeveloped vaginal lips", "underdeveloped vaginal lip" ] ], "xref": [ "SNOMEDCT_US:289469003", "UMLS:C0566899" ], "is_a": [ "HP:0000066", "HP:0012881" ], "is_obsolete": "", "replace_id": "" }, "HP:0000060": { "name": [ "clitoral hypoplasia", "clitoral hypoplasia" ], "alt_id": [], "def": "Developmental hypoplasia of the clitoris.", "synonym": [ [ "hypoplastic clitoris", "hypoplastic clitoris" ], [ "small clitoris", "small clitoris" ], [ "underdeveloped clit", "underdeveloped clit" ] ], "xref": [ "UMLS:C1844527" ], "is_a": [ "HP:0012815", "HP:0040255" ], "is_obsolete": "", "replace_id": "" }, "HP:0000061": { "name": [ "ambiguous genitalia , female", "ambiguous genitalia , female" ], "alt_id": [ "HP:0008690" ], "def": "Ambiguous genitalia in an individual with XX genetic gender.", "synonym": [ [ "ambiguous genitalia due to virilization", "ambiguous genitalia due to virilization" ], [ "atypical appearance of female genitals", "atypical appearance of female genitals" ] ], "xref": [ "UMLS:C1859980", "UMLS:C4025891" ], "is_a": [ "HP:0000055", "HP:0000062" ], "is_obsolete": "", "replace_id": "" }, "HP:0000062": { "name": [ "ambiguous genitalia", "ambiguous genitalia" ], "alt_id": [ "HP:0008685", "HP:0008693" ], "def": "A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.", "synonym": [ [ "ambiguous external genitalia", "ambiguous external genitalia" ], [ "ambiguous external genitalia at birth", "ambiguous external genitalia at birth" ], [ "intersex genitalia", "intersex genitalia" ] ], "xref": [ "MSH:D012734", "SNOMEDCT_US:21321009", "UMLS:C0266362" ], "is_a": [ "HP:0000811" ], "is_obsolete": "", "replace_id": "" }, "HP:0000063": { "name": [ "fused labia minora", "fuse labium minora" ], "alt_id": [], "def": "Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.", "synonym": [ [ "fused inner lips", "fused inner lip" ] ], "xref": [ "UMLS:C1837532" ], "is_a": [ "HP:0012880" ], "is_obsolete": "", "replace_id": "" }, "HP:0000064": { "name": [ "hypoplastic labia minora", "hypoplastic labium minora" ], "alt_id": [], "def": "", "synonym": [ [ "underdeveloped inner lips", "underdeveloped inner lip" ] ], "xref": [ "UMLS:C1849295" ], "is_a": [ "HP:0000066", "HP:0012880" ], "is_obsolete": "", "replace_id": "" }, "HP:0000065": { "name": [ "labial hypertrophy", "labial hypertrophy" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged vaginal lips", "enlarge vaginal lip" ], [ "enlargement of the labia", "enlargement of the labium" ], [ "enlargement of the vaginal lips", "enlargement of the vaginal lip" ] ], "xref": [ "SNOMEDCT_US:16924008", "UMLS:C0404531" ], "is_a": [ "HP:0000058" ], "is_obsolete": "", "replace_id": "" }, "HP:0000066": { "name": [ "labial hypoplasia", "labial hypoplasia" ], "alt_id": [], "def": "", "synonym": [ [ "hypoplastic labia", "hypoplastic labium" ], [ "underdeveloped labia", "underdeveloped labium" ] ], "xref": [ "UMLS:C1850325" ], "is_a": [ "HP:0000058", "HP:0012815" ], "is_obsolete": "", "replace_id": "" }, "HP:0000067": { "name": [ "urethral atresia , female", "urethral atresia , female" ], "alt_id": [], "def": "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.", "synonym": [], "xref": [ "UMLS:C4025890" ], "is_a": [ "HP:0000055", "HP:0000068" ], "is_obsolete": "", "replace_id": "" }, "HP:0000068": { "name": [ "urethral atresia", "urethral atresia" ], "alt_id": [], "def": "Congenital anomaly characterized by closure or failure to develop an opening in the urethra.", "synonym": [ [ "absent urethral opening", "absent urethral opening" ], [ "urethral opening absent", "urethral opening absent" ] ], "xref": [ "UMLS:C1610065" ], "is_a": [ "HP:0000795" ], "is_obsolete": "", "replace_id": "" }, "HP:0000069": { "name": [ "abnormality of the ureter", "abnormality of the ureter" ], "alt_id": [ "HP:0006001" ], "def": "An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.", "synonym": [ [ "abnormality of the ureters", "abnormality of the ureter" ], [ "ureter issue", "ureter issue" ], [ "ureteral anomalies", "ureteral anomaly" ] ], "xref": [ "UMLS:C1840382" ], "is_a": [ "HP:0010935" ], "is_obsolete": "", "replace_id": "" }, "HP:0000070": { "name": [ "ureterocele", "ureterocele" ], "alt_id": [], "def": "A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.", "synonym": [], "xref": [ "MSH:D014518", "SNOMEDCT_US:12818004", "UMLS:C0041960" ], "is_a": [ "HP:0025633" ], "is_obsolete": "", "replace_id": "" }, "HP:0000071": { "name": [ "ureteral stenosis", "ureteral stenosis" ], "alt_id": [], "def": "The presence of a stenotic, i.e., constricted ureter.", "synonym": [ [ "narrowing of the ureter", "narrowing of the ureter" ] ], "xref": [ "SNOMEDCT_US:95574003", "UMLS:C0521618" ], "is_a": [ "HP:0006000" ], "is_obsolete": "", "replace_id": "" }, "HP:0000072": { "name": [ "hydroureter", "hydroureter" ], "alt_id": [ "HP:0006003" ], "def": "The distention of the ureter with urine.", "synonym": [ [ "dilated ureter", "dilate ureter" ], [ "megaureter", "megaureter" ], [ "swelling of ureter", "swell of ureter" ], [ "ureteral dilatation", "ureteral dilatation" ], [ "uroureter", "uroureter" ], [ "wide ureter", "wide ureter" ] ], "xref": [ "SNOMEDCT_US:69758005", "SNOMEDCT_US:95576001", "UMLS:C0521620", "UMLS:C4020897" ], "is_a": [ "HP:0025633" ], "is_obsolete": "", "replace_id": "" }, "HP:0000073": { "name": [ "ureteral duplication", "ureteral duplication" ], "alt_id": [], "def": "A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.", "synonym": [ [ "double ureter", "double ureter" ] ], "xref": [ "SNOMEDCT_US:49496001", "UMLS:C0221365" ], "is_a": [ "HP:0025633" ], "is_obsolete": "", "replace_id": "" }, "HP:0000074": { "name": [ "ureteropelvic junction obstruction", "ureteropelvic junction obstruction" ], "alt_id": [], "def": "Blockage of urine flow from the renal pelvis to the proximal ureter.", "synonym": [ [ "pelviureteric junction obstruction", "pelviureteric junction obstruction" ], [ "ureteropelvic junction stenosis", "ureteropelvic junction stenosis" ] ], "xref": [ "MSH:C537373", "SNOMEDCT_US:95575002", "UMLS:C0521619" ], "is_a": [ "HP:0000071" ], "is_obsolete": "", "replace_id": "" }, "HP:0000075": { "name": [ "renal duplication", "renal duplication" ], "alt_id": [], "def": "A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.", "synonym": [ [ "extra kidney", "extra kidney" ], [ "supernumerary kidney", "supernumerary kidney" ] ], "xref": [ "SNOMEDCT_US:30275001", "UMLS:C0266298" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0000076": { "name": [ "vesicoureteral reflux", "vesicoureteral reflux" ], "alt_id": [ "HP:0005998", "HP:0006002", "HP:0008667" ], "def": "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.", "synonym": [ [ "ureteral reflux", "ureteral reflux" ], [ "ureteric reflux", "ureteric reflux" ], [ "vesico - ureteral reflux", "vesico - ureteral reflux" ], [ "vesicoureteric reflux", "vesicoureteric reflux" ] ], "xref": [ "Fyler:4510", "MSH:D014718", "SNOMEDCT_US:197811007", "UMLS:C0042580" ], "is_a": [ "HP:0000009", "HP:0025634" ], "is_obsolete": "", "replace_id": "" }, "HP:0000077": { "name": [ "abnormality of the kidney", "abnormality of the kidney" ], "alt_id": [], "def": "An abnormality of the kidney.", "synonym": [ [ "abnormal kidney", "abnormal kidney" ], [ "abnormality of the kidney", "abnormality of the kidney" ], [ "renal anomalies", "renal anomaly" ], [ "renal anomaly", "renal anomaly" ] ], "xref": [ "MSH:D007674", "SNOMEDCT_US:44513007", "SNOMEDCT_US:90708001", "UMLS:C0022658", "UMLS:C0266292" ], "is_a": [ "HP:0010935" ], "is_obsolete": "", "replace_id": "" }, "HP:0000078": { "name": [ "abnormality of the genital system", "abnormality of the genital system" ], "alt_id": [], "def": "An abnormality of the genital system.", "synonym": [ [ "abnormality of the reproductive system", "abnormality of the reproductive system" ], [ "genital abnormalities", "genital abnormality" ], [ "genital abnormality", "genital abnormality" ], [ "genital anomalies", "genital anomaly" ], [ "genital defects", "genital defect" ] ], "xref": [ "UMLS:C0281966", "UMLS:C0744356" ], "is_a": [ "HP:0000119" ], "is_obsolete": "", "replace_id": "" }, "HP:0000079": { "name": [ "abnormality of the urinary system", "abnormality of the urinary system" ], "alt_id": [], "def": "An abnormality of the urinary system.", "synonym": [ [ "urinary tract abnormalities", "urinary tract abnormality" ], [ "urinary tract abnormality", "urinary tract abnormality" ], [ "urinary tract anomalies", "urinary tract anomaly" ] ], "xref": [ "UMLS:C4021821" ], "is_a": [ "HP:0000119" ], "is_obsolete": "", "replace_id": "" }, "HP:0000080": { "name": [ "abnormality of reproductive system physiology", "abnormality of reproductive system physiology" ], "alt_id": [], "def": "An abnormal functionality of the genital system.", "synonym": [ [ "abnormality of genital physiology", "abnormality of genital physiology" ], [ "abnormality of reproductive system physiology", "abnormality of reproductive system physiology" ], [ "genital functional abnormality", "genital functional abnormality" ] ], "xref": [ "UMLS:C4020896", "UMLS:C4021820" ], "is_a": [ "HP:0000078" ], "is_obsolete": "", "replace_id": "" }, "HP:0000081": { "name": [ "duplicated collecting system", "duplicate collecting system" ], "alt_id": [], "def": "A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.", "synonym": [ [ "double collecting system", "double collect system" ], [ "double urinary collecting systems on intravenous pyelography", "double urinary collect system on intravenous pyelography" ], [ "duplex collecting system", "duplex collect system" ], [ "duplicated renal collecting system", "duplicate renal collecting system" ] ], "xref": [ "UMLS:C1858565" ], "is_a": [ "HP:0004742" ], "is_obsolete": "", "replace_id": "" }, "HP:0000083": { "name": [ "renal insufficiency", "renal insufficiency" ], "alt_id": [ "HP:0000084", "HP:0004723" ], "def": "A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.", "synonym": [ [ "renal failure", "renal failure" ], [ "renal failure in adulthood", "renal failure in adulthood" ] ], "xref": [ "MSH:D051437", "SNOMEDCT_US:236423003", "SNOMEDCT_US:42399005", "UMLS:C0035078", "UMLS:C1565489", "UMLS:C1839604" ], "is_a": [ "HP:0012211" ], "is_obsolete": "", "replace_id": "" }, "HP:0000085": { "name": [ "horseshoe kidney", "horseshoe kidney" ], "alt_id": [], "def": "A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.", "synonym": [ [ "fused kidneys", "fuse kidney" ], [ "horseshoe kidney", "horseshoe kidney" ], [ "horseshoe kidneys", "horseshoe kidney" ] ], "xref": [ "Fyler:4507", "MSH:D000069337", "SNOMEDCT_US:41729002", "UMLS:C0221353" ], "is_a": [ "HP:0100542" ], "is_obsolete": "", "replace_id": "" }, "HP:0000086": { "name": [ "ectopic kidney", "ectopic kidney" ], "alt_id": [], "def": "A developmental defect in which a kidney is located in an abnormal anatomic position.", "synonym": [ [ "abnormal kidney location", "abnormal kidney location" ], [ "displaced kidney", "displace kidney" ], [ "ectopic kidneys", "ectopic kidney" ], [ "renal ectopia", "renal ectopia" ] ], "xref": [ "SNOMEDCT_US:16507009", "UMLS:C0238207" ], "is_a": [ "HP:0100542" ], "is_obsolete": "", "replace_id": "" }, "HP:0000089": { "name": [ "renal hypoplasia", "renal hypoplasia" ], "alt_id": [ "HP:0001968", "HP:0004741", "HP:0008641" ], "def": "Hypoplasia of the kidney.", "synonym": [ [ "hypoplastic kidney", "hypoplastic kidney" ], [ "hypoplastic kidneys", "hypoplastic kidney" ], [ "small kidneys", "small kidney" ], [ "underdeveloped kidneys", "underdeveloped kidney" ] ], "xref": [ "SNOMEDCT_US:32659003", "UMLS:C0266295" ], "is_a": [ "HP:0008678" ], "is_obsolete": "", "replace_id": "" }, "HP:0000090": { "name": [ "nephronophthisis", "nephronophthisis" ], "alt_id": [ "HP:0004748" ], "def": "Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.", "synonym": [ [ "juvenile nephronophthisis", "juvenile nephronophthisis" ] ], "xref": [ "SNOMEDCT_US:204958008", "UMLS:C0687120" ], "is_a": [ "HP:0100957" ], "is_obsolete": "", "replace_id": "" }, "HP:0000091": { "name": [ "abnormal renal tubule morphology", "abnormal renal tubule morphology" ], "alt_id": [], "def": "An abnormality of the renal tubules.", "synonym": [ [ "abnormality of the renal tubule", "abnormality of the renal tubule" ], [ "morphologic abnormality of the renal tubules", "morphologic abnormality of the renal tubule" ] ], "xref": [ "UMLS:C4021826" ], "is_a": [ "HP:0012575" ], "is_obsolete": "", "replace_id": "" }, "HP:0000092": { "name": [ "renal tubular atrophy", "renal tubular atrophy" ], "alt_id": [ "HP:0005578" ], "def": "The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.", "synonym": [ [ "renal tubular cell atrophy", "renal tubular cell atrophy" ], [ "tubular atrophy", "tubular atrophy" ] ], "xref": [ "UMLS:C1858395" ], "is_a": [ "HP:0032599" ], "is_obsolete": "", "replace_id": "" }, "HP:0000093": { "name": [ "proteinuria", "proteinuria" ], "alt_id": [], "def": "Increased levels of protein in the urine.", "synonym": [ [ "high urine protein levels", "high urine protein level" ], [ "protein in urine", "protein in urine" ] ], "xref": [ "MSH:D011507", "SNOMEDCT_US:29738008", "UMLS:C0033687" ], "is_a": [ "HP:0020129" ], "is_obsolete": "", "replace_id": "" }, "HP:0000095": { "name": [ "abnormal renal glomerulus morphology", "abnormal renal glomerulus morphology" ], "alt_id": [], "def": "A structural anomaly of the glomerulus.", "synonym": [ [ "abnormality of renal glomerulus morphology", "abnormality of renal glomerulus morphology" ], [ "morphologic abnormality of the renal glomerulus", "morphologic abnormality of the renal glomerulus" ] ], "xref": [ "UMLS:C4025889" ], "is_a": [ "HP:0031263" ], "is_obsolete": "", "replace_id": "" }, "HP:0000096": { "name": [ "glomerular sclerosis", "glomerular sclerosis" ], "alt_id": [ "HP:0030761" ], "def": "Accumulation of scar tissue within the glomerulus.", "synonym": [ [ "glomerulosclerosis", "glomerulosclerosis" ], [ "renal glomerular fibrosis", "renal glomerular fibrosis" ] ], "xref": [ "SNOMEDCT_US:197661001", "SNOMEDCT_US:82646005", "UMLS:C0178664" ], "is_a": [ "HP:0000095" ], "is_obsolete": "", "replace_id": "" }, "HP:0000097": { "name": [ "focal segmental glomerulosclerosis", "focal segmental glomerulosclerosis" ], "alt_id": [ "HP:0004747" ], "def": "Segmental accumulation of scar tissue in individual (but not all) glomeruli.", "synonym": [ [ "focal and segmental glomerular sclerosis", "focal and segmental glomerular sclerosis" ], [ "focal and segmental glomerulosclerosis", "focal and segmental glomerulosclerosis" ], [ "focal glomerulosclerosis", "focal glomerulosclerosis" ] ], "xref": [ "MSH:D005923", "SNOMEDCT_US:236403004", "SNOMEDCT_US:25821008", "UMLS:C0017668" ], "is_a": [ "HP:0000096" ], "is_obsolete": "", "replace_id": "" }, "HP:0000098": { "name": [ "tall stature", "tall stature" ], "alt_id": [ "HP:0001527", "HP:0003515", "HP:0003516" ], "def": "A height above that which is expected according to age and gender norms.", "synonym": [ [ "accelerated linear growth", "accelerate linear growth" ], [ "increased body height", "increase body height" ], [ "increased linear growth", "increase linear growth" ], [ "tall stature", "tall stature" ] ], "xref": [ "SNOMEDCT_US:248328003", "UMLS:C0241240" ], "is_a": [ "HP:0000002" ], "is_obsolete": "", "replace_id": "" }, "HP:0000099": { "name": [ "glomerulonephritis", "glomerulonephritis" ], "alt_id": [], "def": "Inflammation of the renal glomeruli.", "synonym": [ [ "glomerular nephritis", "glomerular nephritis" ] ], "xref": [ "MSH:D005921", "SNOMEDCT_US:36171008", "UMLS:C0017658" ], "is_a": [ "HP:0000095", "HP:0000123" ], "is_obsolete": "", "replace_id": "" }, "HP:0000100": { "name": [ "nephrotic syndrome", "nephrotic syndrome" ], "alt_id": [ "HP:0000801", "HP:0004718", "HP:0008638", "HP:0008727" ], "def": "Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.", "synonym": [ [ "nephrosis", "nephrosis" ] ], "xref": [ "MSH:D009404", "SNOMEDCT_US:52254009", "UMLS:C0027726" ], "is_a": [ "HP:0012211" ], "is_obsolete": "", "replace_id": "" }, "HP:0000103": { "name": [ "polyuria", "polyuria" ], "alt_id": [ "HP:0200060" ], "def": "An increased rate of urine production.", "synonym": [ [ "increased urine output", "increase urine output" ] ], "xref": [ "MSH:D011141", "SNOMEDCT_US:28442001", "SNOMEDCT_US:56574000", "SNOMEDCT_US:718402002", "UMLS:C0032617" ], "is_a": [ "HP:0012590" ], "is_obsolete": "", "replace_id": "" }, "HP:0000104": { "name": [ "renal agenesis", "renal agenesis" ], "alt_id": [ "HP:0000785", "HP:0004745", "HP:0008680" ], "def": "Agenesis, that is, failure of the kidney to develop during embryogenesis and development.", "synonym": [ [ "absent kidney", "absent kidney" ], [ "missing kidney", "miss kidney" ], [ "renal aplasia", "renal aplasia" ] ], "xref": [ "Fyler:4503", "SNOMEDCT_US:204942005", "UMLS:C0542519" ], "is_a": [ "HP:0008678" ], "is_obsolete": "", "replace_id": "" }, "HP:0000105": { "name": [ "enlarged kidney", "enlarge kidney" ], "alt_id": [], "def": "An abnormal increase in the size of the kidney.", "synonym": [ [ "enlarged kidney", "enlarge kidney" ], [ "large kidney", "large kidney" ], [ "large kidneys", "large kidney" ], [ "nephromegaly", "nephromegaly" ], [ "renal enlargement", "renal enlargement" ] ], "xref": [ "SNOMEDCT_US:300444006", "UMLS:C0542518" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0000107": { "name": [ "renal cyst", "renal cyst" ], "alt_id": [ "HP:0000088", "HP:0000109" ], "def": "A fluid filled sac in the kidney.", "synonym": [ [ "cystic kidney disease", "cystic kidney disease" ], [ "cystic kidneys", "cystic kidney" ], [ "kidney cyst", "kidney cyst" ], [ "renal cysts", "renal cyst" ] ], "xref": [ "MSH:D052177", "UMLS:C0022679", "UMLS:C3887499" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0000108": { "name": [ "renal corticomedullary cysts", "renal corticomedullary cyst" ], "alt_id": [], "def": "The presence of multiple cysts at the border between the renal cortex and medulla.", "synonym": [ [ "corticomedullary renal cysts", "corticomedullary renal cyst" ], [ "renal corticomedullary cystic disease", "renal corticomedullary cystic disease" ] ], "xref": [ "UMLS:C1968619" ], "is_a": [ "HP:0000107", "HP:0011035", "HP:0100957" ], "is_obsolete": "", "replace_id": "" }, "HP:0000110": { "name": [ "renal dysplasia", "renal dysplasia" ], "alt_id": [ "HP:0000116", "HP:0004721" ], "def": "The presence of developmental dysplasia of the kidney.", "synonym": [ [ "dysplastic kidneys", "dysplastic kidney" ], [ "renal adysplasia", "renal adysplasia" ] ], "xref": [ "MSH:C563261", "SNOMEDCT_US:204949001", "UMLS:C1619700", "UMLS:C3536714" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0000111": { "name": [ "renal juxtaglomerular cell hypertrophy / hyperplasia", "renal juxtaglomerular cell hypertrophy / hyperplasia" ], "alt_id": [], "def": "Increased number and size of the juxtaglomerular cells.", "synonym": [], "xref": [ "UMLS:C1866496" ], "is_a": [ "HP:0000095" ], "is_obsolete": "", "replace_id": "" }, "HP:0000112": { "name": [ "nephropathy", "nephropathy" ], "alt_id": [], "def": "A nonspecific term referring to disease or damage of the kidneys.", "synonym": [ [ "kidney damage", "kidney damage" ], [ "kidney disease", "kidney disease" ] ], "xref": [ "MSH:D007674", "SNOMEDCT_US:90708001", "UMLS:C0022658", "UMLS:C1408258" ], "is_a": [ "HP:0012211" ], "is_obsolete": "", "replace_id": "" }, "HP:0000113": { "name": [ "polycystic kidney dysplasia", "polycystic kidney dysplasia" ], "alt_id": [ "HP:0004716", "HP:0004739", "HP:0004740", "HP:0008645", "HP:0008673", "HP:0008699" ], "def": "The presence of multiple cysts in both kidneys.", "synonym": [ [ "enlarged polycystic kidneys", "enlarge polycystic kidney" ], [ "polycystic kidney disease", "polycystic kidney disease" ], [ "polycystic kidneys", "polycystic kidney" ] ], "xref": [ "Fyler:4508", "MSH:D007690", "SNOMEDCT_US:82525005", "UMLS:C0022680", "UMLS:C1567435" ], "is_a": [ "HP:0000107" ], "is_obsolete": "", "replace_id": "" }, "HP:0000114": { "name": [ "proximal tubulopathy", "proximal tubulopathy" ], "alt_id": [ "HP:0000806" ], "def": "Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.", "synonym": [ [ "proximal renal tubule defect", "proximal renal tubule defect" ], [ "proximal renal tubulopathy", "proximal renal tubulopathy" ], [ "proximal tubular defect", "proximal tubular defect" ], [ "proximal tubule dysfunction", "proximal tubule dysfunction" ], [ "selective proximal tubular damage", "selective proximal tubular damage" ] ], "xref": [ "UMLS:C1839603" ], "is_a": [ "HP:0000124" ], "is_obsolete": "", "replace_id": "" }, "HP:0000117": { "name": [ "renal phosphate wasting", "renal phosphate wasting" ], "alt_id": [], "def": "High urine phosphate in the presence of hypophosphatemia.", "synonym": [ [ "decreased renal tubular phosphate reabsorption", "decrease renal tubular phosphate reabsorption" ], [ "decreased tubular maximum for phosphate reabsorption per glomerular filtration rate", "decrease tubular maximum for phosphate reabsorption per glomerular filtration rate" ], [ "tubular phosphate reabsorption low", "tubular phosphate reabsorption low" ] ], "xref": [ "UMLS:C1845169" ], "is_a": [ "HP:0012599" ], "is_obsolete": "", "replace_id": "" }, "HP:0000118": { "name": [ "phenotypic abnormality", "phenotypic abnormality" ], "alt_id": [], "def": "A phenotypic abnormality.", "synonym": [ [ "organ abnormality", "organ abnormality" ] ], "xref": [ "UMLS:C4021819" ], "is_a": [ "HP:0000001" ], "is_obsolete": "", "replace_id": "" }, "HP:0000119": { "name": [ "abnormality of the genitourinary system", "abnormality of the genitourinary system" ], "alt_id": [ "HP:0008658", "HP:0008688", "HP:0008704", "HP:0008713" ], "def": "The presence of any abnormality of the genitourinary system.", "synonym": [ [ "abnormality of the gu system", "abnormality of the gu system" ], [ "genitourinary abnormality", "genitourinary abnormality" ], [ "genitourinary disease", "genitourinary disease" ], [ "genitourinary dysplasia", "genitourinary dysplasia" ], [ "genitourinary tract anomalies", "genitourinary tract anomaly" ], [ "genitourinary tract malformation", "genitourinary tract malformation" ], [ "urogenital abnormalities", "urogenital abnormality" ], [ "urogenital anomalies", "urogenital anomaly" ] ], "xref": [ "MSH:D014564", "SNOMEDCT_US:287085006", "SNOMEDCT_US:42030000", "UMLS:C0042063", "UMLS:C0080276", "UMLS:C4020895" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0000121": { "name": [ "nephrocalcinosis", "nephrocalcinosis" ], "alt_id": [], "def": "Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.", "synonym": [ [ "increased calcium level in kidney", "increased calcium level in kidney" ], [ "too much calcium deposited in kidneys", "too much calcium deposit in kidney" ] ], "xref": [ "MSH:D009397", "SNOMEDCT_US:48638002", "UMLS:C0027709", "UMLS:C4280679" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0000122": { "name": [ "unilateral renal agenesis", "unilateral renal agenesis" ], "alt_id": [], "def": "A unilateral form of agenesis of the kidney.", "synonym": [ [ "absent kidney on one side", "absent kidney on one side" ], [ "missing one kidney", "miss one kidney" ], [ "single kidney", "single kidney" ], [ "unilateral kidney agenesis", "unilateral kidney agenesis" ] ], "xref": [ "Fyler:4509", "SNOMEDCT_US:55726006", "UMLS:C0266294" ], "is_a": [ "HP:0000104" ], "is_obsolete": "", "replace_id": "" }, "HP:0000123": { "name": [ "nephritis", "nephritis" ], "alt_id": [ "HP:0008634" ], "def": "The presence of inflammation affecting the kidney.", "synonym": [ [ "kidney inflammation", "kidney inflammation" ] ], "xref": [ "MSH:D009393", "SNOMEDCT_US:52845002", "UMLS:C0027697" ], "is_a": [ "HP:0012211", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0000124": { "name": [ "renal tubular dysfunction", "renal tubular dysfunction" ], "alt_id": [], "def": "Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.", "synonym": [ [ "abnormal function of filtrating structures in kidney", "abnormal function of filtrate structure in kidney" ], [ "renal tubular defect", "renal tubular defect" ], [ "renal tubular disease", "renal tubular disease" ] ], "xref": [ "SNOMEDCT_US:95568003", "UMLS:C0151747" ], "is_a": [ "HP:0012211" ], "is_obsolete": "", "replace_id": "" }, "HP:0000125": { "name": [ "pelvic kidney", "pelvic kidney" ], "alt_id": [], "def": "A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.", "synonym": [ [ "sacral kidney", "sacral kidney" ] ], "xref": [ "SNOMEDCT_US:56108007", "UMLS:C0221209" ], "is_a": [ "HP:0000086" ], "is_obsolete": "", "replace_id": "" }, "HP:0000126": { "name": [ "hydronephrosis", "hydronephrosis" ], "alt_id": [], "def": "Severe distention of the kidney with dilation of the renal pelvis and calices.", "synonym": [], "xref": [ "Fyler:4502", "MSH:D006869", "SNOMEDCT_US:43064006", "UMLS:C0020295" ], "is_a": [ "HP:0010946" ], "is_obsolete": "", "replace_id": "" }, "HP:0000127": { "name": [ "renal salt wasting", "renal salt waste" ], "alt_id": [], "def": "A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).", "synonym": [ [ "loss of salt in urine", "loss of salt in urine" ], [ "renal salt - wasting", "renal salt - wasting" ], [ "salt wasting", "salt waste" ], [ "salt - wasting", "salt - wasting" ] ], "xref": [ "UMLS:C1846347" ], "is_a": [ "HP:0012591" ], "is_obsolete": "", "replace_id": "" }, "HP:0000128": { "name": [ "renal potassium wasting", "renal potassium wasting" ], "alt_id": [], "def": "High urine potassium in the presence of hypokalemia.", "synonym": [ [ "renal k wasting", "renal k waste" ] ], "xref": [ "UMLS:C1846348" ], "is_a": [ "HP:0012598" ], "is_obsolete": "", "replace_id": "" }, "HP:0000130": { "name": [ "abnormality of the uterus", "abnormality of the uterus" ], "alt_id": [ "HP:0008630", "HP:0008692" ], "def": "An abnormality of the uterus.", "synonym": [ [ "abnormality of the uterus", "abnormality of the uterus" ], [ "uterine abnormalities", "uterine abnormality" ], [ "uterine malformations", "uterine malformation" ] ], "xref": [ "MSH:C562565", "SNOMEDCT_US:37849005", "UMLS:C0266383" ], "is_a": [ "HP:0000008" ], "is_obsolete": "", "replace_id": "" }, "HP:0000131": { "name": [ "uterine leiomyoma", "uterine leiomyoma" ], "alt_id": [ "HP:0008642" ], "def": "The presence of a leiomyoma of the uterus.", "synonym": [ [ "benign uterine leiomyomas", "benign uterine leiomyoma" ], [ "uterine fibroid", "uterine fibroid" ] ], "xref": [ "MSH:D007889", "NCIT:C3157", "SNOMEDCT_US:146801000119103", "SNOMEDCT_US:44598004", "SNOMEDCT_US:95315005", "UMLS:C0042133" ], "is_a": [ "HP:0010784" ], "is_obsolete": "", "replace_id": "" }, "HP:0000132": { "name": [ "menorrhagia", "menorrhagia" ], "alt_id": [ "HP:0100609" ], "def": "Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.", "synonym": [ [ "abnormally heavy bleeding during menstruation", "abnormally heavy bleeding during menstruation" ], [ "abnormally heavy periods", "abnormally heavy period" ], [ "hypermenorrhea", "hypermenorrhea" ] ], "xref": [ "MSH:D008595", "SNOMEDCT_US:386692008", "UMLS:C0025323" ], "is_a": [ "HP:0000140", "HP:0001892" ], "is_obsolete": "", "replace_id": "" }, "HP:0000133": { "name": [ "gonadal dysgenesis", "gonadal dysgenesis" ], "alt_id": [ "HP:0003243" ], "def": "", "synonym": [ [ "mixed gonadal dysgenesis", "mixed gonadal dysgenesis" ], [ "pure gonadal dysgenesis", "pure gonadal dysgenesis" ] ], "xref": [ "MSH:D006059", "MSH:D006060", "SNOMEDCT_US:205681004", "SNOMEDCT_US:38804009", "SNOMEDCT_US:83579008", "SNOMEDCT_US:95219002", "UMLS:C0018051", "UMLS:C0018055", "UMLS:C0687149" ], "is_a": [ "HP:0000812" ], "is_obsolete": "", "replace_id": "" }, "HP:0000134": { "name": [ "female hypogonadism", "female hypogonadism" ], "alt_id": [], "def": "Decreased functionality of the female gonads, i.e., of the ovary.", "synonym": [ [ "hypogonadism , female", "hypogonadism , female" ] ], "xref": [ "SNOMEDCT_US:16041008", "UMLS:C0271578" ], "is_a": [ "HP:0000135", "HP:0031066" ], "is_obsolete": "", "replace_id": "" }, "HP:0000135": { "name": [ "hypogonadism", "hypogonadism" ], "alt_id": [], "def": "A decreased functionality of the gonad.", "synonym": [ [ "decreased activity of gonads", "decreased activity of gonad" ] ], "xref": [ "MSH:D007006", "SNOMEDCT_US:48130008", "UMLS:C0020619" ], "is_a": [ "HP:0000080", "HP:0008373" ], "is_obsolete": "", "replace_id": "" }, "HP:0000136": { "name": [ "bifid uterus", "bifid uterus" ], "alt_id": [], "def": "The presence of a bifid uterus.", "synonym": [], "xref": [ "UMLS:C1850327" ], "is_a": [ "HP:0031105" ], "is_obsolete": "", "replace_id": "" }, "HP:0000137": { "name": [ "abnormality of the ovary", "abnormality of the ovary" ], "alt_id": [], "def": "An abnormality of the ovary.", "synonym": [ [ "abnormality of the ovaries", "abnormality of the ovary" ], [ "abnormality of the ovary", "abnormality of the ovary" ], [ "ovarian disease", "ovarian disease" ] ], "xref": [ "MSH:D010049", "SNOMEDCT_US:5552004", "UMLS:C0029928", "UMLS:C4021818" ], "is_a": [ "HP:0000008" ], "is_obsolete": "", "replace_id": "" }, "HP:0000138": { "name": [ "ovarian cyst", "ovarian cyst" ], "alt_id": [ "HP:0000146" ], "def": "The presence of one or more cysts of the ovary.", "synonym": [ [ "cystic abnormalities of the ovaries", "cystic abnormality of the ovary" ], [ "cystic ovaries", "cystic ovary" ], [ "ovarian cyst", "ovarian cyst" ], [ "ovarian cystic abnormality", "ovarian cystic abnormality" ] ], "xref": [ "MSH:D010048", "SNOMEDCT_US:79883001", "UMLS:C0029927" ], "is_a": [ "HP:0031065" ], "is_obsolete": "", "replace_id": "" }, "HP:0000139": { "name": [ "uterine prolapse", "uterine prolapse" ], "alt_id": [ "HP:0100824" ], "def": "The presence of prolapse of the uterus.", "synonym": [ [ "sagging uterus", "sag uterus" ] ], "xref": [ "MSH:D014596", "SNOMEDCT_US:24976005", "UMLS:C0042140" ], "is_a": [ "HP:0031105", "HP:0100823" ], "is_obsolete": "", "replace_id": "" }, "HP:0000140": { "name": [ "abnormality of the menstrual cycle", "abnormality of the menstrual cycle" ], "alt_id": [], "def": "An abnormality of the ovulation cycle.", "synonym": [ [ "abnormality of the menstrual cycle", "abnormality of the menstrual cycle" ], [ "menstrual abnormalities", "menstrual abnormality" ] ], "xref": [ "UMLS:C3549779", "UMLS:C4025888" ], "is_a": [ "HP:0030012" ], "is_obsolete": "", "replace_id": "" }, "HP:0000141": { "name": [ "amenorrhea", "amenorrhea" ], "alt_id": [], "def": "Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.", "synonym": [ [ "abnormal absence of menstruation", "abnormal absence of menstruation" ] ], "xref": [ "UMLS:C2219717" ], "is_a": [ "HP:0000140" ], "is_obsolete": "", "replace_id": "" }, "HP:0000142": { "name": [ "abnormal vagina morphology", "abnormal vagina morphology" ], "alt_id": [ "HP:0008650" ], "def": "Any structural abnormality of the vagina.", "synonym": [ [ "vaginal malformation", "vaginal malformation" ] ], "xref": [ "UMLS:C1856023" ], "is_a": [ "HP:0000008" ], "is_obsolete": "", "replace_id": "" }, "HP:0000143": { "name": [ "rectovaginal fistula", "rectovaginal fistula" ], "alt_id": [], "def": "The presence of a fistula between the vagina and the rectum.", "synonym": [ [ "abnormal connection between rectum and vagina", "abnormal connection between rectum and vagina" ] ], "xref": [ "MEDDRA:10051097 \"Rectovaginal fistula\"", "MSH:D012006", "SNOMEDCT_US:65619001", "UMLS:C0034895" ], "is_a": [ "HP:0004320", "HP:0100590" ], "is_obsolete": "", "replace_id": "" }, "HP:0000144": { "name": [ "decreased fertility", "decrease fertility" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal fertility", "abnormal fertility" ], [ "decreased fertility", "decrease fertility" ] ], "xref": [ "SNOMEDCT_US:17276009", "UMLS:C0520927" ], "is_a": [ "HP:0000080" ], "is_obsolete": "", "replace_id": "" }, "HP:0000145": { "name": [ "transverse vaginal septum", "transverse vaginal septum" ], "alt_id": [], "def": "", "synonym": [ [ "transverse vaginal membrane", "transverse vaginal membrane" ] ], "xref": [ "UMLS:C1856006" ], "is_a": [ "HP:0001153" ], "is_obsolete": "", "replace_id": "" }, "HP:0000147": { "name": [ "polycystic ovaries", "polycystic ovary" ], "alt_id": [ "HP:0008644", "HP:0008657" ], "def": "", "synonym": [ [ "polycystic ovary", "polycystic ovary" ], [ "polycystic ovary disease", "polycystic ovary disease" ], [ "sclerocystic ovaries", "sclerocystic ovary" ] ], "xref": [ "MSH:D011085", "SNOMEDCT_US:69878008", "UMLS:C0032460", "UMLS:C1136382" ], "is_a": [ "HP:0000138" ], "is_obsolete": "", "replace_id": "" }, "HP:0000148": { "name": [ "vaginal atresia", "vaginal atresia" ], "alt_id": [], "def": "Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.", "synonym": [ [ "abnormally closed or absent vagina", "abnormally close or absent vagina" ] ], "xref": [ "SNOMEDCT_US:87380008", "UMLS:C1321884" ], "is_a": [ "HP:0000142", "HP:0001827" ], "is_obsolete": "", "replace_id": "" }, "HP:0000149": { "name": [ "ovarian gonadoblastoma", "ovarian gonadoblastoma" ], "alt_id": [], "def": "The presence of a gonadoblastoma of the ovary.", "synonym": [ [ "gonadoblastoma , female", "gonadoblastoma , female" ] ], "xref": [ "NCIT:C3754", "SNOMEDCT_US:716594002", "UMLS:C1518716" ], "is_a": [ "HP:0000150", "HP:0100615" ], "is_obsolete": "", "replace_id": "" }, "HP:0000150": { "name": [ "gonadoblastoma", "gonadoblastoma" ], "alt_id": [ "HP:0006745" ], "def": "The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.", "synonym": [], "xref": [ "MSH:D018238", "NCIT:C3754", "SNOMEDCT_US:74751003", "UMLS:C0206661" ], "is_a": [ "HP:0000812", "HP:0100728" ], "is_obsolete": "", "replace_id": "" }, "HP:0000151": { "name": [ "aplasia of the uterus", "aplasia of the uterus" ], "alt_id": [], "def": "Aplasia of the uterus.", "synonym": [ [ "absent uterus", "absent uterus" ], [ "uterus absent", "uterus absent" ] ], "xref": [ "SNOMEDCT_US:248942000", "UMLS:C0425913" ], "is_a": [ "HP:0008684" ], "is_obsolete": "", "replace_id": "" }, "HP:0000152": { "name": [ "abnormality of head or neck", "abnormality of head or neck" ], "alt_id": [], "def": "An abnormality of head and neck.", "synonym": [ [ "abnormality of head or neck", "abnormality of head or neck" ], [ "head and neck abnormality", "head and neck abnormality" ] ], "xref": [ "UMLS:C4021817" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0000153": { "name": [ "abnormality of the mouth", "abnormality of the mouth" ], "alt_id": [], "def": "An abnormality of the mouth.", "synonym": [ [ "abnormal mouth", "abnormal mouth" ], [ "abnormality of the mouth", "abnormality of the mouth" ] ], "xref": [ "MSH:D009056", "SNOMEDCT_US:128334002", "UMLS:C0026633" ], "is_a": [ "HP:0000271" ], "is_obsolete": "", "replace_id": "" }, "HP:0000154": { "name": [ "wide mouth", "wide mouth" ], "alt_id": [ "HP:0000181", "HP:0002052" ], "def": "Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).", "synonym": [ [ "broad mouth", "broad mouth" ], [ "large mouth", "large mouth" ], [ "large oral aperture", "large oral aperture" ], [ "macrostomia", "macrostomia" ], [ "wide mouth", "wide mouth" ] ], "xref": [ "MSH:D008265", "SNOMEDCT_US:40159009", "UMLS:C0024433" ], "is_a": [ "HP:0011337" ], "is_obsolete": "", "replace_id": "" }, "HP:0000155": { "name": [ "oral ulcer", "oral ulcer" ], "alt_id": [], "def": "Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.", "synonym": [ [ "mouth sore", "mouth sore" ], [ "mouth ulcer", "mouth ulcer" ], [ "oral mucosal ulceration", "oral mucosal ulceration" ] ], "xref": [ "MSH:D019226", "SNOMEDCT_US:26284000", "UMLS:C0149745" ], "is_a": [ "HP:0011830" ], "is_obsolete": "", "replace_id": "" }, "HP:0000157": { "name": [ "abnormality of the tongue", "abnormality of the tongue" ], "alt_id": [], "def": "Any abnormality of the tongue.", "synonym": [ [ "abnormal tongue", "abnormal tongue" ], [ "abnormality of the tongue", "abnormality of the tongue" ], [ "glossal abnormality", "glossal abnormality" ], [ "lingual abnormality", "lingual abnormality" ], [ "tongue abnormality", "tongue abnormality" ] ], "xref": [ "UMLS:C0878638" ], "is_a": [ "HP:0000163" ], "is_obsolete": "", "replace_id": "" }, "HP:0000158": { "name": [ "macroglossia", "macroglossia" ], "alt_id": [ "HP:0000203" ], "def": "Increased length and width of the tongue.", "synonym": [ [ "abnormally large tongue", "abnormally large tongue" ], [ "glossal hypertrophy", "glossal hypertrophy" ], [ "hyperplasia of the tongue", "hyperplasia of the tongue" ], [ "hypertrophy of the tongue", "hypertrophy of the tongue" ], [ "increased size of tongue", "increase size of tongue" ], [ "large tongue", "large tongue" ], [ "lingual hyperplasia", "lingual hyperplasia" ], [ "lingual hypertrophy", "lingual hypertrophy" ], [ "tongue hypertrophy", "tongue hypertrophy" ] ], "xref": [ "MSH:D008260", "SNOMEDCT_US:25273001", "UMLS:C0024421" ], "is_a": [ "HP:0003712", "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0000159": { "name": [ "abnormal lip morphology", "abnormal lip morphology" ], "alt_id": [], "def": "An abnormality of the lip.", "synonym": [ [ "abnormal lip", "abnormal lip" ], [ "abnormality of the lip", "abnormality of the lip" ], [ "anomaly of lip", "anomaly of lip" ], [ "deformity of lip", "deformity of lip" ], [ "lip abnormality", "lip abnormality" ], [ "malformation of lip", "malformation of lip" ] ], "xref": [ "UMLS:C2183966" ], "is_a": [ "HP:0000163" ], "is_obsolete": "", "replace_id": "" }, "HP:0000160": { "name": [ "narrow mouth", "narrow mouth" ], "alt_id": [ "HP:0002261", "HP:0009095", "HP:0009096" ], "def": "Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).", "synonym": [ [ "microstomia", "microstomia" ], [ "narrow mouth", "narrow mouth" ], [ "small mouth", "small mouth" ], [ "small oral aperture", "small oral aperture" ] ], "xref": [ "MSH:D008865", "SNOMEDCT_US:14582003", "UMLS:C0026034" ], "is_a": [ "HP:0011337" ], "is_obsolete": "", "replace_id": "" }, "HP:0000161": { "name": [ "median cleft lip", "median cleft lip" ], "alt_id": [], "def": "A type of cleft lip presenting as a midline (median) gap in the upper lip.", "synonym": [ [ "central cleft upper lip", "central cleft upper lip" ], [ "midline cleft lip", "midline cleft lip" ] ], "xref": [ "UMLS:C1850256" ], "is_a": [ "HP:0000204" ], "is_obsolete": "", "replace_id": "" }, "HP:0000162": { "name": [ "glossoptosis", "glossoptosis" ], "alt_id": [], "def": "Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.", "synonym": [ [ "lingual retraction", "lingual retraction" ], [ "posterior displacement of the tongue", "posterior displacement of the tongue" ], [ "retraction of the tongue", "retraction of the tongue" ] ], "xref": [ "MSH:D065710", "SNOMEDCT_US:3639002", "UMLS:C0267048", "UMLS:C4280678" ], "is_a": [ "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0000163": { "name": [ "abnormal oral cavity morphology", "abnormal oral cavity morphology" ], "alt_id": [], "def": "Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.", "synonym": [ [ "abnormality of the oral cavity", "abnormality of the oral cavity" ] ], "xref": [ "UMLS:C4025887" ], "is_a": [ "HP:0031816" ], "is_obsolete": "", "replace_id": "" }, "HP:0000164": { "name": [ "abnormality of the dentition", "abnormality of the dentition" ], "alt_id": [ "HP:0001567", "HP:0006296", "HP:0006348" ], "def": "Any abnormality of the teeth.", "synonym": [ [ "abnormal dentition", "abnormal dentition" ], [ "abnormal teeth", "abnormal teeth" ], [ "abnormality of the teeth", "abnormality of the teeth" ], [ "dental abnormalities", "dental abnormality" ], [ "dental abnormality", "dental abnormality" ], [ "dental anomalies", "dental anomaly" ], [ "dental problem", "dental problem" ], [ "dental problems", "dental problem" ], [ "tooth abnormalities", "tooth abnormality" ] ], "xref": [ "MSH:D014071", "SNOMEDCT_US:422775003", "UMLS:C0040427", "UMLS:C0262444" ], "is_a": [ "HP:0000163" ], "is_obsolete": "", "replace_id": "" }, "HP:0000166": { "name": [ "severe periodontitis", "severe periodontitis" ], "alt_id": [], "def": "A severe form of periodontitis.", "synonym": [ [ "severe gum disease", "severe gum disease" ], [ "severe periodontal disease", "severe periodontal disease" ], [ "severe pyorrhea", "severe pyorrhea" ] ], "xref": [ "UMLS:C4025886" ], "is_a": [ "HP:0000704" ], "is_obsolete": "", "replace_id": "" }, "HP:0000168": { "name": [ "abnormality of the gingiva", "abnormality of the gingiva" ], "alt_id": [], "def": "Any abnormality of the gingiva (also known as gums).", "synonym": [ [ "abnormality of the gums", "abnormality of the gum" ], [ "gingival abnormality", "gingival abnormality" ] ], "xref": [ "UMLS:C4021816" ], "is_a": [ "HP:0011830" ], "is_obsolete": "", "replace_id": "" }, "HP:0000169": { "name": [ "gingival fibromatosis", "gingival fibromatosis" ], "alt_id": [], "def": "The presence of fibrosis of the gingiva.", "synonym": [ [ "gingival fibroma", "gingival fibroma" ], [ "gingival fibrous nodules", "gingival fibrous nodule" ], [ "hereditary gingival fibromatosis", "hereditary gingival fibromatosis" ], [ "idiopathic gingival hyperplasia", "idiopathic gingival hyperplasia" ] ], "xref": [ "MSH:C562884", "MSH:D005351", "NCIT:C3041", "SNOMEDCT_US:109620006", "SNOMEDCT_US:58569000", "UMLS:C0016049", "UMLS:C0399440", "UMLS:C4280677" ], "is_a": [ "HP:0000168", "HP:0010614" ], "is_obsolete": "", "replace_id": "" }, "HP:0000171": { "name": [ "microglossia", "microglossia" ], "alt_id": [ "HP:0000226", "HP:0009079" ], "def": "Decreased length and width of the tongue.", "synonym": [ [ "abnormally small tongue", "abnormally small tongue" ], [ "decreased size of tongue", "decreased size of tongue" ], [ "hypoglossia", "hypoglossia" ], [ "hypoplasia of the tongue", "hypoplasia of the tongue" ], [ "hypoplastic tongue", "hypoplastic tongue" ], [ "lingual hypoplasia", "lingual hypoplasia" ], [ "rudimentary tongue", "rudimentary tongue" ], [ "small tongue", "small tongue" ], [ "underdevelopment of the tongue", "underdevelopment of the tongue" ] ], "xref": [ "MSH:D014060", "SNOMEDCT_US:249380003", "SNOMEDCT_US:32614006", "UMLS:C0025988", "UMLS:C0426492" ], "is_a": [ "HP:0010295" ], "is_obsolete": "", "replace_id": "" }, "HP:0000172": { "name": [ "abnormal uvula morphology", "abnormal uvula morphology" ], "alt_id": [], "def": "Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.", "synonym": [ [ "abnormality of palatine uvula", "abnormality of palatine uvula" ], [ "abnormality of the uvula", "abnormality of the uvula" ] ], "xref": [ "UMLS:C4025885" ], "is_a": [ "HP:0100736" ], "is_obsolete": "", "replace_id": "" }, "HP:0000174": { "name": [ "abnormal palate morphology", "abnormal palate morphology" ], "alt_id": [], "def": "Any abnormality of the palate, i.e., of roof of the mouth.", "synonym": [ [ "abnormality of the palate", "abnormality of the palate" ], [ "abnormality of the roof of the mouth", "abnormality of the roof of the mouth" ], [ "palatal anomaly", "palatal anomaly" ], [ "palate abnormality", "palate abnormality" ] ], "xref": [ "UMLS:C4021815" ], "is_a": [ "HP:0000163" ], "is_obsolete": "", "replace_id": "" }, "HP:0000175": { "name": [ "cleft palate", "cleft palate" ], "alt_id": [ "HP:0410004" ], "def": "Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).", "synonym": [ [ "cleft hard and soft palate", "cleft hard and soft palate" ], [ "cleft of hard and soft palate", "cleft of hard and soft palate" ], [ "cleft of palate", "cleft of palate" ], [ "cleft palate", "cleft palate" ], [ "cleft roof of mouth", "cleft roof of mouth" ], [ "cleft secondary palate", "cleft secondary palate" ], [ "palatoschisis", "palatoschisis" ], [ "uranostaphyloschisis", "uranostaphyloschisis" ] ], "xref": [ "Fyler:4876", "MSH:D002972", "SNOMEDCT_US:63567004", "SNOMEDCT_US:87979003", "UMLS:C0008925", "UMLS:C2981150" ], "is_a": [ "HP:0000202", "HP:0100737" ], "is_obsolete": "", "replace_id": "" }, "HP:0000176": { "name": [ "submucous cleft hard palate", "submucous cleft hard palate" ], "alt_id": [ "HP:0000208", "HP:0002746", "HP:0009091" ], "def": "Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.", "synonym": [ [ "partial thickness cleft hard palate", "partial thickness cleave hard palate" ], [ "submucosal cleft palate", "submucosal cleft palate" ], [ "submucous clefting", "submucous clefting" ] ], "xref": [ "SNOMEDCT_US:43437003", "UMLS:C0432103", "UMLS:C4020894" ], "is_a": [ "HP:0410031" ], "is_obsolete": "", "replace_id": "" }, "HP:0000177": { "name": [ "abnormality of upper lip", "abnormality of upper lip" ], "alt_id": [], "def": "An abnormality of the upper lip.", "synonym": [ [ "abnormality of upper lip", "abnormality of upper lip" ], [ "anomaly of the upper lip", "anomaly of the upper lip" ], [ "deformity of the upper lip", "deformity of the upper lip" ], [ "malformation of the upper lip", "malformation of the upper lip" ] ], "xref": [ "UMLS:C4025884" ], "is_a": [ "HP:0000159" ], "is_obsolete": "", "replace_id": "" }, "HP:0000178": { "name": [ "abnormality of lower lip", "abnormality of low lip" ], "alt_id": [], "def": "An abnormality of the lower lip.", "synonym": [ [ "abnormality of lower lip", "abnormality of low lip" ], [ "anomaly of the lower lip", "anomaly of the low lip" ], [ "deformity of the lower lip", "deformity of the low lip" ], [ "malformation of the lower lip", "malformation of the low lip" ] ], "xref": [ "UMLS:C4025883" ], "is_a": [ "HP:0000159" ], "is_obsolete": "", "replace_id": "" }, "HP:0000179": { "name": [ "thick lower lip vermilion", "thick low lip vermilion" ], "alt_id": [ "HP:0000170" ], "def": "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).", "synonym": [ [ "full lower lip", "full low lip" ], [ "full lower lip vermilion", "full low lip vermilion" ], [ "increased height of lower lip vermilion", "increase height of low lip vermilion" ], [ "increased volume of lower lip", "increased volume of low lip" ], [ "increased volume of lower lip vermilion", "increased volume of low lip vermilion" ], [ "plump lower lip", "plump lower lip" ], [ "prominent lower lip", "prominent low lip" ], [ "prominent lower lip vermilion", "prominent low lip vermilion" ], [ "thick lower lip", "thick low lip" ], [ "thick red part of the lower lip", "thick red part of the low lip" ], [ "thick vermilion border of lower lip", "thick vermilion border of low lip" ] ], "xref": [ "UMLS:C1839739", "UMLS:C2053437" ], "is_a": [ "HP:0000178", "HP:0012471" ], "is_obsolete": "", "replace_id": "" }, "HP:0000180": { "name": [ "lobulated tongue", "lobulated tongue" ], "alt_id": [], "def": "Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.", "synonym": [ [ "bumpy tongue", "bumpy tongue" ], [ "lingual lobules", "lingual lobule" ], [ "lobulate tongue", "lobulate tongue" ] ], "xref": [ "SNOMEDCT_US:253752000", "UMLS:C0431564" ], "is_a": [ "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0000182": { "name": [ "movement abnormality of the tongue", "movement abnormality of the tongue" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of lingual movement", "abnormality of lingual movement" ], [ "movement abnormality of the tongue", "movement abnormality of the tongue" ] ], "xref": [ "UMLS:C4025882" ], "is_a": [ "HP:0030810" ], "is_obsolete": "", "replace_id": "" }, "HP:0000183": { "name": [ "difficulty in tongue movements", "difficulty in tongue movement" ], "alt_id": [], "def": "", "synonym": [ [ "difficulty in lingual movements", "difficulty in lingual movement" ], [ "difficulty in tongue movements", "difficulty in tongue movement" ], [ "hypokinesia of the tongue", "hypokinesia of the tongue" ], [ "lingual hypokinesia", "lingual hypokinesia" ] ], "xref": [ "UMLS:C1853406", "UMLS:C4280676" ], "is_a": [ "HP:0000182" ], "is_obsolete": "", "replace_id": "" }, "HP:0000185": { "name": [ "cleft soft palate", "cleft soft palate" ], "alt_id": [], "def": "Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.", "synonym": [ [ "cleft muscular palate", "cleft muscular palate" ], [ "cleft of soft palate", "cleft of soft palate" ], [ "cleft velum", "cleft velum" ] ], "xref": [ "MSH:C562950", "SNOMEDCT_US:253997002", "UMLS:C0432098" ], "is_a": [ "HP:0000175", "HP:0100736" ], "is_obsolete": "", "replace_id": "" }, "HP:0000187": { "name": [ "broad alveolar ridges", "broad alveolar ridge" ], "alt_id": [], "def": "", "synonym": [ [ "broad alveolar margins", "broad alveolar margin" ], [ "broad alveolar processes of jaw", "broad alveolar process of jaw" ], [ "wide alveolar margins", "wide alveolar margin" ], [ "wide alveolar processes of jaw", "wide alveolar process of jaw" ], [ "wide gum ridges", "wide gum ridge" ], [ "widened alveolar ridges", "widen alveolar ridge" ] ], "xref": [ "UMLS:C1857500", "UMLS:C4280675" ], "is_a": [ "HP:0006477" ], "is_obsolete": "", "replace_id": "" }, "HP:0000188": { "name": [ "short upper lip", "short upper lip" ], "alt_id": [ "HP:0200087" ], "def": "Decreased width of the upper lip.", "synonym": [ [ "decreased height of upper lip", "decreased height of upper lip" ], [ "decreased upper labial height", "decrease upper labial height" ], [ "decreased upper labial length", "decrease upper labial length" ], [ "decreased vertical length of upper lip", "decreased vertical length of upper lip" ], [ "short upper lip", "short upper lip" ], [ "shortening of upper lip", "shortening of upper lip" ], [ "vertical deficiency of upper lip", "vertical deficiency of upper lip" ] ], "xref": [ "UMLS:C1848977" ], "is_a": [ "HP:0000177" ], "is_obsolete": "", "replace_id": "" }, "HP:0000189": { "name": [ "narrow palate", "narrow palate" ], "alt_id": [], "def": "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).", "synonym": [ [ "decreased palatal width", "decrease palatal width" ], [ "decreased transverse dimension of palate", "decreased transverse dimension of palate" ], [ "narrow palate", "narrow palate" ], [ "narrow roof of mouth", "narrow roof of mouth" ] ], "xref": [ "UMLS:C1398312" ], "is_a": [ "HP:0000174" ], "is_obsolete": "", "replace_id": "" }, "HP:0000190": { "name": [ "abnormal oral frenulum morphology", "abnormal oral frenulum morphology" ], "alt_id": [], "def": "An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.", "synonym": [ [ "abnormality of frenum of tongue", "abnormality of frenum of tongue" ], [ "abnormality of lingual frenum", "abnormality of lingual frenum" ], [ "abnormality of oral frenula", "abnormality of oral frenula" ], [ "abnormality of oral frenum", "abnormality of oral frenum" ] ], "xref": [ "UMLS:C4025881" ], "is_a": [ "HP:0000163" ], "is_obsolete": "", "replace_id": "" }, "HP:0000191": { "name": [ "accessory oral frenulum", "accessory oral frenulum" ], "alt_id": [], "def": "Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.", "synonym": [ [ "accessory oral frenum", "accessory oral frenum" ], [ "extra oral frenulum", "extra oral frenulum" ], [ "extra oral frenum", "extra oral frenum" ], [ "multiple oral frenula", "multiple oral frenula" ], [ "supernumerary oral frenulum", "supernumerary oral frenulum" ], [ "supernumerary oral frenum", "supernumerary oral frenum" ] ], "xref": [ "UMLS:C4021814" ], "is_a": [ "HP:0000190" ], "is_obsolete": "", "replace_id": "" }, "HP:0000193": { "name": [ "bifid uvula", "bifid uvula" ], "alt_id": [ "HP:0000173", "HP:0410032" ], "def": "Uvula separated into two parts most easily seen at the tip.", "synonym": [ [ "bifid palatine uvula", "bifid palatine uvula" ], [ "cleft of uvula", "cleft of uvula" ], [ "cleft uvula", "cleft uvula" ], [ "forked uvula", "fork uvula" ], [ "split uvula", "split uvula" ], [ "uvula bifida", "uvula bifida" ] ], "xref": [ "SNOMEDCT_US:18910001", "UMLS:C0266122" ], "is_a": [ "HP:0000172", "HP:0000185" ], "is_obsolete": "", "replace_id": "" }, "HP:0000194": { "name": [ "open mouth", "open mouth" ], "alt_id": [], "def": "A facial appearance characterized by a permanently or nearly permanently opened mouth.", "synonym": [ [ "gaped jawed appearance", "gap jaw appearance" ], [ "gaped mouthed appearance", "gap mouth appearance" ], [ "open mouth", "open mouth" ], [ "open mouth appearance", "open mouth appearance" ], [ "slack jawed appearance", "slack jaw appearance" ] ], "xref": [ "SNOMEDCT_US:262016004", "UMLS:C0240379" ], "is_a": [ "HP:0011338" ], "is_obsolete": "", "replace_id": "" }, "HP:0000196": { "name": [ "lower lip pit", "low lip pit" ], "alt_id": [], "def": "Depression located on the vermilion of the lower lip, usually paramedian.", "synonym": [], "xref": [ "UMLS:C1861544" ], "is_a": [ "HP:0000178", "HP:0100269" ], "is_obsolete": "", "replace_id": "" }, "HP:0000197": { "name": [ "abnormal parotid gland morphology", "abnormal parotid gland morphology" ], "alt_id": [], "def": "Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.", "synonym": [ [ "abnormality of parotid gland", "abnormality of parotid gland" ], [ "anomaly of the parotid gland", "anomaly of the parotid gland" ] ], "xref": [ "UMLS:C4025880" ], "is_a": [ "HP:0010286" ], "is_obsolete": "", "replace_id": "" }, "HP:0000198": { "name": [ "absence of stensen duct", "absence of stensen duct" ], "alt_id": [], "def": "", "synonym": [ [ "absence of parotid duct", "absence of parotid duct" ], [ "absent stensen duct", "absent stensen duct" ], [ "agenesis of parotid duct", "agenesis of parotid duct" ], [ "agenesis of stensen duct", "agenesis of stensen duct" ], [ "failure of development of parotid duct", "failure of development of parotid duct" ], [ "failure of development of stensen duct", "failure of development of stensen duct" ], [ "missing parotid duct", "miss parotid duct" ], [ "missing stensen duct", "miss stensen duct" ] ], "xref": [ "UMLS:C1858569", "UMLS:C4280674" ], "is_a": [ "HP:0000197" ], "is_obsolete": "", "replace_id": "" }, "HP:0000199": { "name": [ "tongue nodules", "tongue nodule" ], "alt_id": [], "def": "", "synonym": [ [ "lingual nodules", "lingual nodule" ] ], "xref": [ "UMLS:C0241438" ], "is_a": [ "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0000200": { "name": [ "short lingual frenulum", "short lingual frenulum" ], "alt_id": [], "def": "The presence of an abnormally short lingual frenulum.", "synonym": [ [ "deficiency of lingual frenulum", "deficiency of lingual frenulum" ], [ "hypoplasia of lingual frenulum", "hypoplasia of lingual frenulum" ], [ "hypoplasia of lingual frenum", "hypoplasia of lingual frenum" ], [ "hypoplasia of tongue frenulum", "hypoplasia of tongue frenulum" ], [ "hypoplasia of tongue frenum", "hypoplasia of tongue frenum" ], [ "short lingual frenum", "short lingual frenum" ], [ "short tongue frenulum", "short tongue frenulum" ], [ "short tongue frenum", "short tongue frenum" ], [ "tight lingual frenulum", "tight lingual frenulum" ] ], "xref": [ "SNOMEDCT_US:249388005", "UMLS:C0426501", "UMLS:C4280673" ], "is_a": [ "HP:0000190" ], "is_obsolete": "", "replace_id": "" }, "HP:0000201": { "name": [ "pierre - robin sequence", "pierre - robin sequence" ], "alt_id": [], "def": "Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.", "synonym": [ [ "pierre robin sequence", "pierre robin sequence" ], [ "pierre - robin anomaly", "pierre - robin anomaly" ], [ "pierre - robin deformity", "pierre - robin deformity" ], [ "pierre - robin malformation", "pierre - robin malformation" ], [ "robin sequence", "robin sequence" ] ], "xref": [ "MSH:D010855", "SNOMEDCT_US:4602007", "UMLS:C0031900" ], "is_a": [ "HP:0031816" ], "is_obsolete": "", "replace_id": "" }, "HP:0000202": { "name": [ "oral cleft", "oral cleft" ], "alt_id": [], "def": "The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.", "synonym": [ [ "cleft lip , cleft palate", "cleft lip , cleft palate" ], [ "cleft lip / palate", "cleft lip / palate" ], [ "cleft of the mouth", "cleft of the mouth" ], [ "oral clefting", "oral clefting" ] ], "xref": [ "SNOMEDCT_US:253983005", "SNOMEDCT_US:66948001", "UMLS:C0158646", "UMLS:C4021813" ], "is_a": [ "HP:0000163" ], "is_obsolete": "", "replace_id": "" }, "HP:0000204": { "name": [ "cleft upper lip", "cleft upper lip" ], "alt_id": [], "def": "A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.", "synonym": [ [ "cheiloschisis of upper lip", "cheiloschisis of upper lip" ], [ "cleft of upper lip", "cleft of upper lip" ], [ "cleft upper lip", "cleft upper lip" ], [ "harelip", "harelip" ] ], "xref": [ "Fyler:4875", "MSH:D002971", "SNOMEDCT_US:80281008", "UMLS:C0008924" ], "is_a": [ "HP:0000177", "HP:0410030" ], "is_obsolete": "", "replace_id": "" }, "HP:0000205": { "name": [ "pursed lips", "purse lip" ], "alt_id": [], "def": "An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.", "synonym": [ [ "pursed lips", "purse lip" ], [ "tightly closed lips", "tightly close lip" ] ], "xref": [ "UMLS:C1832130" ], "is_a": [ "HP:0011338" ], "is_obsolete": "", "replace_id": "" }, "HP:0000206": { "name": [ "glossitis", "glossitis" ], "alt_id": [], "def": "Inflammation of the tongue.", "synonym": [ [ "inflammation of the tongue", "inflammation of the tongue" ], [ "lingual inflammation", "lingual inflammation" ], [ "smooth swollen tongue", "smooth swollen tongue" ] ], "xref": [ "MSH:D005928", "SNOMEDCT_US:45534005", "UMLS:C0017675" ], "is_a": [ "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0000207": { "name": [ "triangular mouth", "triangular mouth" ], "alt_id": [], "def": "The presence of a triangular form of the mouth.", "synonym": [ [ "triangular mouth", "triangular mouth" ], [ "triangular shaped mouth", "triangular shape mouth" ], [ "triangular shaped oral aperture", "triangular shape oral aperture" ] ], "xref": [ "UMLS:C1849341" ], "is_a": [ "HP:0011338" ], "is_obsolete": "", "replace_id": "" }, "HP:0000211": { "name": [ "trismus", "trismus" ], "alt_id": [], "def": "Limitation in the ability to open the mouth.", "synonym": [ [ "decrease in jaw mobility", "decrease in jaw mobility" ], [ "decrease in jaw movement", "decrease in jaw movement" ], [ "decrease in jaw opening", "decrease in jaw opening" ], [ "decrease in mandibular mobility", "decrease in mandibular mobility" ], [ "decrease in mandibular movement", "decrease in mandibular movement" ], [ "decrease in mandibular opening", "decrease in mandibular opening" ], [ "limited jaw mobility", "limited jaw mobility" ], [ "limited jaw movement", "limited jaw movement" ], [ "limited jaw opening", "limited jaw opening" ], [ "limited mandibular mobility", "limited mandibular mobility" ], [ "limited mandibular opening", "limited mandibular opening" ], [ "limited mouth opening", "limited mouth opening" ], [ "lockjaw", "lockjaw" ], [ "pain of muscles of mastication", "pain of muscle of mastication" ] ], "xref": [ "MSH:D014313", "SNOMEDCT_US:87866006", "UMLS:C0041105", "UMLS:C1848474", "UMLS:C4228933", "UMLS:C4280672" ], "is_a": [ "HP:0000277" ], "is_obsolete": "", "replace_id": "" }, "HP:0000212": { "name": [ "gingival overgrowth", "gingival overgrowth" ], "alt_id": [ "HP:0000195" ], "def": "Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.", "synonym": [ [ "gingival enlargement", "gingival enlargement" ], [ "gingival hyperplasia", "gingival hyperplasia" ], [ "gum enlargement", "gum enlargement" ], [ "gum hypertrophy", "gum hypertrophy" ], [ "hypertrophic gingivitis", "hypertrophic gingivitis" ], [ "oral soft tissue hyperplasia", "oral soft tissue hyperplasia" ] ], "xref": [ "MSH:D005885", "MSH:D005886", "MSH:D019214", "SNOMEDCT_US:441787004", "SNOMEDCT_US:441798003", "SNOMEDCT_US:54711002", "UMLS:C0017566", "UMLS:C0017567", "UMLS:C0376480" ], "is_a": [ "HP:0000168" ], "is_obsolete": "", "replace_id": "" }, "HP:0000214": { "name": [ "lip telangiectasia", "lip telangiectasia" ], "alt_id": [], "def": "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.", "synonym": [ [ "angioectasias of the lip", "angioectasias of the lip" ], [ "labial angioectasias", "labial angioectasias" ], [ "labial telangiectasia", "labial telangiectasia" ], [ "lip telangiectases", "lip telangiectases" ], [ "spider veins of the lip", "spider vein of the lip" ], [ "telangiectasia of the lips", "telangiectasia of the lip" ] ], "xref": [ "UMLS:C1857697", "UMLS:C4280670", "UMLS:C4280671" ], "is_a": [ "HP:0000159", "HP:0000228" ], "is_obsolete": "", "replace_id": "" }, "HP:0000215": { "name": [ "thick upper lip vermilion", "thick upper lip vermilion" ], "alt_id": [ "HP:0000231" ], "def": "Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).", "synonym": [ [ "full upper lip", "full upper lip" ], [ "full upper lip vermilion", "full upper lip vermilion" ], [ "increased height of upper lip vermilion", "increase height of upper lip vermilion" ], [ "increased volume of upper lip", "increased volume of upper lip" ], [ "increased volume of upper lip vermilion", "increased volume of upper lip vermilion" ], [ "plump upper lip", "plump upper lip" ], [ "prominent upper lip", "prominent upper lip" ], [ "prominent upper lip vermilion", "prominent upper lip vermilion" ], [ "thick red part of the upper lip", "thick red part of the upper lip" ], [ "thick upper lip", "thick upper lip" ], [ "thick vermilion border of upper lip", "thick vermilion border of upper lip" ] ], "xref": [ "UMLS:C1846423" ], "is_a": [ "HP:0011339", "HP:0012471" ], "is_obsolete": "", "replace_id": "" }, "HP:0000216": { "name": [ "broad secondary alveolar ridge", "broad secondary alveolar ridge" ], "alt_id": [], "def": "", "synonym": [ [ "secondary alveolar ridges", "secondary alveolar ridge" ] ], "xref": [ "UMLS:C1839276" ], "is_a": [ "HP:0000187" ], "is_obsolete": "", "replace_id": "" }, "HP:0000217": { "name": [ "xerostomia", "xerostomia" ], "alt_id": [ "HP:0002709", "HP:0100756" ], "def": "Dryness of the mouth due to salivary gland dysfunction.", "synonym": [ [ "decreased salivary flow", "decrease salivary flow" ], [ "dry mouth", "dry mouth" ], [ "dry mouth syndrome", "dry mouth syndrome" ], [ "reduced salivation", "reduce salivation" ] ], "xref": [ "MSH:D014987", "SNOMEDCT_US:300268000", "SNOMEDCT_US:56893005", "SNOMEDCT_US:87715008", "UMLS:C0043352" ], "is_a": [ "HP:0100755" ], "is_obsolete": "", "replace_id": "" }, "HP:0000218": { "name": [ "high palate", "high palate" ], "alt_id": [ "HP:0000156", "HP:0009080", "HP:0009082", "HP:0009097" ], "def": "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).", "synonym": [ [ "elevated palate", "elevate palate" ], [ "high arched palate", "high arch palate" ], [ "high palate", "high palate" ], [ "high , arched palate", "high , arched palate" ], [ "high - arched palate", "high - arched palate" ], [ "increased palatal height", "increase palatal height" ], [ "ogival palate", "ogival palate" ], [ "palate high - arched", "palate high - arch" ], [ "palate , high - arched", "palate , high - arch" ] ], "xref": [ "SNOMEDCT_US:27272007", "UMLS:C0240635" ], "is_a": [ "HP:0000174" ], "is_obsolete": "", "replace_id": "" }, "HP:0000219": { "name": [ "thin upper lip vermilion", "thin upper lip vermilion" ], "alt_id": [ "HP:0200062", "HP:0200086" ], "def": "Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).", "synonym": [ [ "decreased height of upper lip vermilion", "decreased height of upper lip vermilion" ], [ "decreased volume of upper lip", "decreased volume of upper lip" ], [ "decreased volume of upper lip vermilion", "decreased volume of upper lip vermilion" ], [ "thin red part of the upper lip", "thin red part of the upper lip" ], [ "thin upper lip", "thin upper lip" ], [ "thin upper lips", "thin upper lip" ], [ "thin vermilion border of upper lip", "thin vermilion border of upper lip" ] ], "xref": [ "UMLS:C1865017" ], "is_a": [ "HP:0000233", "HP:0011339" ], "is_obsolete": "", "replace_id": "" }, "HP:0000220": { "name": [ "velopharyngeal insufficiency", "velopharyngeal insufficiency" ], "alt_id": [], "def": "Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.", "synonym": [ [ "velopharyngeal dysfunction", "velopharyngeal dysfunction" ], [ "velopharyngeal incompetence", "velopharyngeal incompetence" ] ], "xref": [ "MSH:D014681", "SNOMEDCT_US:229727006", "SNOMEDCT_US:232416001", "SNOMEDCT_US:278714002", "UMLS:C0042454", "UMLS:C4280669" ], "is_a": [ "HP:0100736" ], "is_obsolete": "", "replace_id": "" }, "HP:0000221": { "name": [ "furrowed tongue", "furrow tongue" ], "alt_id": [], "def": "Accentuation of the grooves on the dorsal surface of the tongue.", "synonym": [ [ "fissured tongue", "fissure tongue" ], [ "grooved tongue", "groove tongue" ], [ "lingual furrow", "lingual furrow" ], [ "lingue plicata", "lingue plicata" ], [ "plicated tongue", "plicate tongue" ], [ "prominent tongue grooves", "prominent tongue groove" ], [ "scrotal tongue", "scrotal tongue" ] ], "xref": [ "MSH:D014063", "SNOMEDCT_US:52368004", "UMLS:C0040412" ], "is_a": [ "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0000222": { "name": [ "gingival hyperkeratosis", "gingival hyperkeratosis" ], "alt_id": [ "HP:0007539" ], "def": "Hyperkeratosis of the gingiva.", "synonym": [ [ "hyperkeratosis , gingival", "hyperkeratosis , gingival" ] ], "xref": [ "UMLS:C1857013" ], "is_a": [ "HP:0000168", "HP:0000962" ], "is_obsolete": "", "replace_id": "" }, "HP:0000223": { "name": [ "abnormality of taste sensation", "abnormality of taste sensation" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of taste sensation", "abnormality of taste sensation" ] ], "xref": [ "UMLS:C4025879" ], "is_a": [ "HP:0012638", "HP:0030810" ], "is_obsolete": "", "replace_id": "" }, "HP:0000224": { "name": [ "hypogeusia", "hypogeusia" ], "alt_id": [], "def": "A decreased ability to perceive flavor.", "synonym": [ [ "decreased taste", "decrease taste" ], [ "decreased taste sensation", "decrease taste sensation" ] ], "xref": [ "MSH:D000370", "SNOMEDCT_US:697990000", "UMLS:C0151934" ], "is_a": [ "HP:0000223" ], "is_obsolete": "", "replace_id": "" }, "HP:0000225": { "name": [ "gingival bleeding", "gingival bleeding" ], "alt_id": [ "HP:0000167" ], "def": "Hemorrhage affecting the gingiva.", "synonym": [ [ "bleeding gums", "bleeding gum" ], [ "gingival haemorrhage", "gingival haemorrhage" ], [ "gingival hemorrhage", "gingival hemorrhage" ], [ "gingivorrhagia", "gingivorrhagia" ] ], "xref": [ "MSH:D005884", "SNOMEDCT_US:86276007", "UMLS:C0017565" ], "is_a": [ "HP:0000168", "HP:0001892" ], "is_obsolete": "", "replace_id": "" }, "HP:0000227": { "name": [ "tongue telangiectasia", "tongue telangiectasia" ], "alt_id": [], "def": "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.", "synonym": [ [ "angioectasias of the tongue", "angioectasias of the tongue" ], [ "lingual angioectasias", "lingual angioectasias" ], [ "lingual telangiectasia", "lingual telangiectasia" ], [ "spider veins of the tongue", "spider vein of the tongue" ] ], "xref": [ "UMLS:C4025878", "UMLS:C4280668" ], "is_a": [ "HP:0000228", "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0000228": { "name": [ "oral cavity telangiectasia", "oral cavity telangiectasia" ], "alt_id": [], "def": "Presence of telangiectases in the oral cavity.", "synonym": [ [ "angioectasias of the mouth", "angioectasias of the mouth" ], [ "angioectasias of the oral cavity", "angioectasias of the oral cavity" ], [ "oral cavity teleangiectasia", "oral cavity teleangiectasia" ], [ "spider veins of the mouth", "spider vein of the mouth" ], [ "spider veins of the oral cavity", "spider vein of the oral cavity" ] ], "xref": [ "UMLS:C4025877", "UMLS:C4280667" ], "is_a": [ "HP:0011830", "HP:0100579" ], "is_obsolete": "", "replace_id": "" }, "HP:0000230": { "name": [ "gingivitis", "gingivitis" ], "alt_id": [], "def": "Inflammation of the gingiva.", "synonym": [ [ "gingival inflammation", "gingival inflammation" ], [ "inflamed gums", "inflame gum" ], [ "red and swollen gums", "red and swollen gum" ] ], "xref": [ "MSH:D005891", "SNOMEDCT_US:66383009", "UMLS:C0017574" ], "is_a": [ "HP:0000168" ], "is_obsolete": "", "replace_id": "" }, "HP:0000232": { "name": [ "everted lower lip vermilion", "evert low lip vermilion" ], "alt_id": [ "HP:0000184", "HP:0002264", "HP:0002712", "HP:0004665", "HP:0009086", "HP:0009093" ], "def": "An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.", "synonym": [ [ "drooping lower lip", "droop low lip" ], [ "eclabium of lower lip", "eclabium of low lip" ], [ "everted lower lip", "evert low lip" ], [ "everted prominent lower lip", "evert prominent low lip" ], [ "outward turned lower lip", "outward turn low lip" ], [ "protruding lower lip", "protrude low lip" ] ], "xref": [ "UMLS:C1853246", "UMLS:C1866234" ], "is_a": [ "HP:0000178", "HP:0012472" ], "is_obsolete": "", "replace_id": "" }, "HP:0000233": { "name": [ "thin vermilion border", "thin vermilion border" ], "alt_id": [ "HP:0000213" ], "def": "Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).", "synonym": [ [ "decreased volume of lip", "decreased volume of lip" ], [ "decreased volume of lip vermillion", "decreased volume of lip vermillion" ], [ "thin lips", "thin lip" ], [ "thin vermilion borders", "thin vermilion border" ], [ "thin vermillion", "thin vermillion" ] ], "xref": [ "SNOMEDCT_US:301348000", "UMLS:C0578038" ], "is_a": [ "HP:0000159" ], "is_obsolete": "", "replace_id": "" }, "HP:0000234": { "name": [ "abnormality of the head", "abnormality of the head" ], "alt_id": [], "def": "An abnormality of the head.", "synonym": [ [ "abnormal head", "abnormal head" ], [ "abnormality of the head", "abnormality of the head" ], [ "head abnormality", "head abnormality" ] ], "xref": [ "UMLS:C4021812" ], "is_a": [ "HP:0000152" ], "is_obsolete": "", "replace_id": "" }, "HP:0000235": { "name": [ "abnormality of the fontanelles or cranial sutures", "abnormality of the fontanelle or cranial suture" ], "alt_id": [], "def": "Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments).", "synonym": [], "xref": [ "UMLS:C4025876" ], "is_a": [ "HP:0002683" ], "is_obsolete": "", "replace_id": "" }, "HP:0000236": { "name": [ "abnormality of the anterior fontanelle", "abnormality of the anterior fontanelle" ], "alt_id": [], "def": "An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.", "synonym": [ [ "abnormality of the forehead soft spot", "abnormality of the forehead soft spot" ] ], "xref": [ "UMLS:C4025875" ], "is_a": [ "HP:0011328" ], "is_obsolete": "", "replace_id": "" }, "HP:0000237": { "name": [ "small anterior fontanelle", "small anterior fontanelle" ], "alt_id": [], "def": "Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.", "synonym": [ [ "small anterior fontanel", "small anterior fontanel" ], [ "small forehead fontanel", "small forehead fontanel" ] ], "xref": [ "UMLS:C1859455" ], "is_a": [ "HP:0000236" ], "is_obsolete": "", "replace_id": "" }, "HP:0000238": { "name": [ "hydrocephalus", "hydrocephalus" ], "alt_id": [ "HP:0007189", "HP:0008503" ], "def": "Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.", "synonym": [ [ "hydrocephaly", "hydrocephaly" ], [ "nonsyndromal hydrocephalus", "nonsyndromal hydrocephalus" ], [ "too much cerebrospinal fluid in the brain", "too much cerebrospinal fluid in the brain" ] ], "xref": [ "MSH:D006849", "SNOMEDCT_US:230745008", "UMLS:C0020255" ], "is_a": [ "HP:0002118", "HP:0002921" ], "is_obsolete": "", "replace_id": "" }, "HP:0000239": { "name": [ "large fontanelles", "large fontanelle" ], "alt_id": [ "HP:0004473" ], "def": "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.", "synonym": [ [ "enlarged fontanelles", "enlarge fontanelle" ], [ "large bregma sutures", "large bregma suture" ], [ "large fontanel", "large fontanel" ], [ "large fontanelle", "large fontanelle" ], [ "large fontanels", "large fontanel" ], [ "large , late - closing fontanelle", "large , late - closing fontanelle" ], [ "persistent wide fontanel", "persistent wide fontanel" ], [ "wide bregma sutures", "wide bregma suture" ], [ "wide fontanelles", "wide fontanelle" ] ], "xref": [ "SNOMEDCT_US:276709006", "UMLS:C0456132", "UMLS:C4072820", "UMLS:C4072821", "UMLS:C4072822" ], "is_a": [ "HP:0011328" ], "is_obsolete": "", "replace_id": "" }, "HP:0000240": { "name": [ "abnormality of skull size", "abnormality of skull size" ], "alt_id": [], "def": "Any abnormality of the size of the skull.", "synonym": [ [ "abnormality of cranium size", "abnormality of cranium size" ], [ "abnormality of head size", "abnormality of head size" ], [ "abnormality of skull size", "abnormality of skull size" ] ], "xref": [ "UMLS:C4025874" ], "is_a": [ "HP:0000929" ], "is_obsolete": "", "replace_id": "" }, "HP:0000242": { "name": [ "parietal bossing", "parietal bossing" ], "alt_id": [ "HP:0004641" ], "def": "Parietal bossing is a marked prominence in the parietal region.", "synonym": [ [ "biparietal bossing", "biparietal bossing" ], [ "bossing of parietal bone", "bossing of parietal bone" ] ], "xref": [ "UMLS:C1857126" ], "is_a": [ "HP:0002696" ], "is_obsolete": "", "replace_id": "" }, "HP:0000243": { "name": [ "trigonocephaly", "trigonocephaly" ], "alt_id": [], "def": "Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.", "synonym": [ [ "triangular cranium shape", "triangular cranium shape" ], [ "triangular head shape", "triangular head shape" ], [ "triangular skull shape", "triangular skull shape" ], [ "wedge shaped cranium", "wedge shape cranium" ], [ "wedge shaped head", "wedge shape head" ], [ "wedge shaped skull", "wedge shape skull" ] ], "xref": [ "MSH:D003398", "SNOMEDCT_US:28740008", "UMLS:C0265535", "UMLS:C4280665", "UMLS:C4280666" ], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0000244": { "name": [ "brachyturricephaly", "brachyturricephaly" ], "alt_id": [], "def": "Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.", "synonym": [ [ "brachy - turricephaly", "brachy - turricephaly" ], [ "high , prominent forehead", "high , prominent forehead" ], [ "turribrachycephaly", "turribrachycephaly" ] ], "xref": [ "UMLS:C1857484" ], "is_a": [ "HP:0000248", "HP:0000262" ], "is_obsolete": "", "replace_id": "" }, "HP:0000245": { "name": [ "abnormal paranasal sinus morphology", "abnormal paranasal sinus morphology" ], "alt_id": [], "def": "Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.", "synonym": [ [ "abnormality of the paranasal sinuses", "abnormality of the paranasal sinus" ], [ "abnormality of the sinuses", "abnormality of the sinus" ], [ "abnormality of the sinuses of the head", "abnormality of the sinus of the head" ] ], "xref": [ "UMLS:C4025873" ], "is_a": [ "HP:0002087", "HP:0011821" ], "is_obsolete": "", "replace_id": "" }, "HP:0000246": { "name": [ "sinusitis", "sinusitis" ], "alt_id": [], "def": "Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.", "synonym": [ [ "sinus disease", "sinus disease" ], [ "sinus infection", "sinus infection" ], [ "sinus inflammation", "sinus inflammation" ] ], "xref": [ "MSH:D010254", "MSH:D012852", "SNOMEDCT_US:36971009", "SNOMEDCT_US:7393007", "UMLS:C0030469", "UMLS:C0037199" ], "is_a": [ "HP:0000245", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0000248": { "name": [ "brachycephaly", "brachycephaly" ], "alt_id": [ "HP:0002258", "HP:0004479", "HP:0008512" ], "def": "An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.", "synonym": [ [ "broad cranium shape", "broad cranium shape" ], [ "broad head shape", "broad head shape" ], [ "broad skull shape", "broad skull shape" ], [ "short and broad skull", "short and broad skull" ], [ "wide cranium shape", "wide cranium shape" ], [ "wide head shape", "wide head shape" ], [ "wide skull shape", "wide skull shape" ] ], "xref": [ "MSH:D003398", "SNOMEDCT_US:13649004", "UMLS:C0221356", "UMLS:C4072823", "UMLS:C4072824" ], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0000250": { "name": [ "dense calvaria", "dense calvaria" ], "alt_id": [], "def": "An abnormal increase of density of the bones making up the calvaria.", "synonym": [ [ "dense skull cap", "dense skull cap" ] ], "xref": [ "UMLS:C1854834" ], "is_a": [ "HP:0002683", "HP:0004330" ], "is_obsolete": "", "replace_id": "" }, "HP:0000252": { "name": [ "microcephaly", "microcephaly" ], "alt_id": [ "HP:0001366", "HP:0005485", "HP:0005489", "HP:0005497" ], "def": "Head circumference below 2 standard deviations below the mean for age and gender.", "synonym": [ [ "abnormally small cranium", "abnormally small cranium" ], [ "abnormally small head", "abnormally small head" ], [ "abnormally small skull", "abnormally small skull" ], [ "decreased circumference of cranium", "decrease circumference of cranium" ], [ "decreased size of cranium", "decreased size of cranium" ], [ "decreased size of head", "decreased size of head" ], [ "decreased size of skull", "decreased size of skull" ], [ "reduced head circumference", "reduce head circumference" ], [ "small calvarium", "small calvarium" ], [ "small cranium", "small cranium" ], [ "small head", "small head" ], [ "small head circumference", "small head circumference" ], [ "small skull", "small skull" ] ], "xref": [ "Fyler:4310", "SNOMEDCT_US:271611007", "UMLS:C4551563" ], "is_a": [ "HP:0007364", "HP:0040195" ], "is_obsolete": "", "replace_id": "" }, "HP:0000253": { "name": [ "progressive microcephaly", "progressive microcephaly" ], "alt_id": [], "def": "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.", "synonym": [ [ "microcephaly , postnatal , progressive", "microcephaly , postnatal , progressive" ], [ "microcephaly , progressive", "microcephaly , progressive" ], [ "progressively abnormally small cranium", "progressively abnormally small cranium" ], [ "progressively abnormally small skull", "progressively abnormally small skull" ] ], "xref": [ "UMLS:C1850456" ], "is_a": [ "HP:0005484" ], "is_obsolete": "", "replace_id": "" }, "HP:0000255": { "name": [ "acute sinusitis", "acute sinusitis" ], "alt_id": [], "def": "An acute form of sinusitis.", "synonym": [], "xref": [ "SNOMEDCT_US:15805002", "UMLS:C0149512" ], "is_a": [ "HP:0000246" ], "is_obsolete": "", "replace_id": "" }, "HP:0000256": { "name": [ "macrocephaly", "macrocephaly" ], "alt_id": [ "HP:0005491", "HP:0005496", "HP:0200135" ], "def": "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.", "synonym": [ [ "big calvaria", "big calvaria" ], [ "big cranium", "big cranium" ], [ "big head", "big head" ], [ "big skull", "big skull" ], [ "increased size of cranium", "increase size of cranium" ], [ "increased size of head", "increase size of head" ], [ "increased size of skull", "increase size of skull" ], [ "large calvaria", "large calvaria" ], [ "large cranium", "large cranium" ], [ "large head", "large head" ], [ "large head circumference", "large head circumference" ], [ "large skull", "large skull" ], [ "macrocrania", "macrocrania" ], [ "megacephaly", "megacephaly" ] ], "xref": [ "Fyler:4335", "UMLS:C4083076", "UMLS:C4255213", "UMLS:C4280663", "UMLS:C4280664" ], "is_a": [ "HP:0040194" ], "is_obsolete": "", "replace_id": "" }, "HP:0000260": { "name": [ "wide anterior fontanel", "wide anterior fontanel" ], "alt_id": [], "def": "Enlargement of the anterior fontanelle with respect to age-dependent norms.", "synonym": [ [ "large anterior fontanel", "large anterior fontanel" ], [ "large anterior fontanelle", "large anterior fontanelle" ], [ "large anterior fontanels", "large anterior fontanel" ], [ "large open anterior fontanel", "large open anterior fontanel" ], [ "large open anterior fontanelle", "large open anterior fontanelle" ], [ "wide anterior fontanelle", "wide anterior fontanelle" ], [ "wide open anterior fontanelle", "wide open anterior fontanelle" ], [ "wider - than - typical soft spot of skull", "wide - than - typical soft spot of skull" ] ], "xref": [ "UMLS:C1866134" ], "is_a": [ "HP:0000236", "HP:0000239" ], "is_obsolete": "", "replace_id": "" }, "HP:0000262": { "name": [ "turricephaly", "turricephaly" ], "alt_id": [ "HP:0001356" ], "def": "Tall head relative to width and length.", "synonym": [ [ "tall shaped cranium", "tall shape cranium" ], [ "tall shaped head", "tall shape head" ], [ "tall shaped skull", "tall shape skull" ], [ "tower cranium shape", "tower cranium shape" ], [ "tower skull shape", "tower skull shape" ], [ "turricephalus", "turricephalus" ] ], "xref": [ "MSH:D003398", "SNOMEDCT_US:48069004", "UMLS:C0030044" ], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0000263": { "name": [ "oxycephaly", "oxycephaly" ], "alt_id": [], "def": "Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.", "synonym": [ [ "acrocephaly", "acrocephaly" ] ], "xref": [ "MSH:D003398" ], "is_a": [ "HP:0000262" ], "is_obsolete": "", "replace_id": "" }, "HP:0000264": { "name": [ "abnormality of the mastoid", "abnormality of the mastoid" ], "alt_id": [], "def": "An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.", "synonym": [ [ "abnormality of mastoid process of temporal bone", "abnormality of mastoid process of temporal bone" ] ], "xref": [ "UMLS:C4025872" ], "is_a": [ "HP:0000929" ], "is_obsolete": "", "replace_id": "" }, "HP:0000265": { "name": [ "mastoiditis", "mastoiditis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D008417", "SNOMEDCT_US:52404001", "UMLS:C0024904" ], "is_a": [ "HP:0000264" ], "is_obsolete": "", "replace_id": "" }, "HP:0000267": { "name": [ "cranial asymmetry", "cranial asymmetry" ], "alt_id": [], "def": "Asymmetry of the bones of the skull.", "synonym": [ [ "abnormality of cranial vault shape", "abnormality of cranial vault shape" ], [ "abnormality of cranium shape", "abnormality of cranium shape" ], [ "abnormality of head shape", "abnormality of head shape" ], [ "asymmetry of cranium", "asymmetry of cranium" ], [ "asymmetry of head", "asymmetry of head" ], [ "cranial vault asymmetry", "cranial vault asymmetry" ], [ "malformation of cranial vault shape", "malformation of cranial vault shape" ], [ "malformation of cranium shape", "malformation of cranium shape" ], [ "malformation of head shape", "malformation of head shape" ], [ "uneven head shape", "uneven head shape" ] ], "xref": [ "UMLS:C1860245", "UMLS:C4280258", "UMLS:C4280657", "UMLS:C4280658", "UMLS:C4280659", "UMLS:C4280660", "UMLS:C4280661", "UMLS:C4280662" ], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0000268": { "name": [ "dolichocephaly", "dolichocephaly" ], "alt_id": [ "HP:0000258", "HP:0005440" ], "def": "An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.", "synonym": [ [ "large dolichocephalic skull", "large dolichocephalic skull" ], [ "long , narrow head", "long , narrow head" ], [ "narrow cranium shape", "narrow cranium shape" ], [ "narrow head shape", "narrow head shape" ], [ "narrow skull shape", "narrow skull shape" ], [ "tall and narrow skull", "tall and narrow skull" ], [ "turridolichocephaly", "turridolichocephaly" ] ], "xref": [ "SNOMEDCT_US:72239002", "UMLS:C0221358", "UMLS:C4280653", "UMLS:C4280654", "UMLS:C4280655", "UMLS:C4280656" ], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0000269": { "name": [ "prominent occiput", "prominent occiput" ], "alt_id": [ "HP:0004489" ], "def": "Increased convexity of the occiput (posterior part of the skull).", "synonym": [ [ "prominent back of the head", "prominent back of the head" ], [ "prominent back of the skull", "prominent back of the skull" ], [ "prominent posterior cranium", "prominent posterior cranium" ], [ "prominent posterior head", "prominent posterior head" ], [ "prominent posterior skull", "prominent posterior skull" ], [ "protruding back of the head", "protrude back of the head" ], [ "protruding occiput", "protrude occiput" ] ], "xref": [ "UMLS:C1853737", "UMLS:C4280652" ], "is_a": [ "HP:0011217" ], "is_obsolete": "", "replace_id": "" }, "HP:0000270": { "name": [ "delayed cranial suture closure", "delay cranial suture closure" ], "alt_id": [ "HP:0002704", "HP:0003794" ], "def": "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.", "synonym": [ [ "broad late closing cranial sutures", "broad late close cranial suture" ], [ "delayed closure of fontanel", "delayed closure of fontanel" ], [ "delayed closure of fontanelles", "delayed closure of fontanelle" ], [ "delayed closure of fontanels", "delayed closure of fontanel" ], [ "delayed closure of the fontanelles", "delayed closure of the fontanelle" ], [ "delayed cranial suture closure", "delay cranial suture closure" ], [ "delayed fontanel closure", "delay fontanel closure" ], [ "delayed fontanelle closure", "delay fontanelle closure" ], [ "late closing fontanelles", "late closing fontanelle" ], [ "late closure of fontanelle", "late closure of fontanelle" ], [ "late - closing fontanelle", "late - closing fontanelle" ], [ "open sutures", "open suture" ] ], "xref": [ "SNOMEDCT_US:82779003", "UMLS:C0277828" ], "is_a": [ "HP:0011329" ], "is_obsolete": "", "replace_id": "" }, "HP:0000271": { "name": [ "abnormality of the face", "abnormality of the face" ], "alt_id": [], "def": "An abnormality of the face.", "synonym": [ [ "abnormal face", "abnormal face" ], [ "abnormality of the countenance", "abnormality of the countenance" ], [ "abnormality of the face", "abnormality of the face" ], [ "abnormality of the physiognomy", "abnormality of the physiognomy" ], [ "abnormality of the visage", "abnormality of the visage" ], [ "anomaly of face", "anomaly of face" ], [ "anomaly of the face", "anomaly of the face" ], [ "disorder of face", "disorder of face" ], [ "disorder of the face", "disorder of the face" ], [ "facial abnormality", "facial abnormality" ], [ "facial anomaly", "facial anomaly" ] ], "xref": [ "SNOMEDCT_US:118930001", "SNOMEDCT_US:32003007", "SNOMEDCT_US:398206004", "SNOMEDCT_US:398302004", "UMLS:C0266617", "UMLS:C1290857", "UMLS:C4025871" ], "is_a": [ "HP:0000234" ], "is_obsolete": "", "replace_id": "" }, "HP:0000272": { "name": [ "malar flattening", "malar flattening" ], "alt_id": [ "HP:0000312", "HP:0000332", "HP:0004642", "HP:0004658", "HP:0004671", "HP:0005319", "HP:0005443", "HP:0005455", "HP:0100846" ], "def": "Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.", "synonym": [ [ "decreased size of malar bone", "decreased size of malar bone" ], [ "depressed malar region", "depressed malar region" ], [ "flat cheekbone", "flat cheekbone" ], [ "hypotrophic malar bone", "hypotrophic malar bone" ], [ "malar hypoplasia", "malar hypoplasia" ], [ "underdevelopment of malar bone", "underdevelopment of malar bone" ], [ "zygomatic flattening", "zygomatic flattening" ] ], "xref": [ "UMLS:C1858085", "UMLS:C4280651" ], "is_a": [ "HP:0012369" ], "is_obsolete": "", "replace_id": "" }, "HP:0000273": { "name": [ "facial grimacing", "facial grimacing" ], "alt_id": [], "def": "", "synonym": [ [ "facial grimacing", "facial grimacing" ] ], "xref": [ "SNOMEDCT_US:37126005", "UMLS:C0234853" ], "is_a": [ "HP:0005324" ], "is_obsolete": "", "replace_id": "" }, "HP:0000274": { "name": [ "small face", "small face" ], "alt_id": [], "def": "A face that is short (HP:0011219) and narrow (HP:0000275).", "synonym": [ [ "facial hypoplasia", "facial hypoplasia" ], [ "hypoplasia of face", "hypoplasia of face" ], [ "microface", "microface" ], [ "microfacies", "microfacies" ], [ "short and narrow face", "short and narrow face" ], [ "small face", "small face" ], [ "small facies", "small facies" ] ], "xref": [ "UMLS:C1855538" ], "is_a": [ "HP:0001999" ], "is_obsolete": "", "replace_id": "" }, "HP:0000275": { "name": [ "narrow face", "narrow face" ], "alt_id": [ "HP:0000318" ], "def": "Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).", "synonym": [ [ "decreased breadth of face", "decrease breadth of face" ], [ "decreased horizontal dimension of face", "decrease horizontal dimension of face" ], [ "decreased transverse dimension of face", "decreased transverse dimension of face" ], [ "decreased width of face", "decrease width of face" ], [ "horizontal deficiency of face", "horizontal deficiency of face" ], [ "horizontal hypoplasia of face", "horizontal hypoplasia of face" ], [ "horizontal insufficiency of face", "horizontal insufficiency of face" ], [ "narrow face", "narrow face" ], [ "narrow facies", "narrow facies" ], [ "thin face", "thin face" ], [ "thin facies", "thin facies" ], [ "transverse deficiency of face", "transverse deficiency of face" ], [ "transverse hypoplasia of face", "transverse hypoplasia of face" ], [ "transverse insufficiency of face", "transverse insufficiency of face" ] ], "xref": [ "UMLS:C1837463", "UMLS:C1849121" ], "is_a": [ "HP:0000274" ], "is_obsolete": "", "replace_id": "" }, "HP:0000276": { "name": [ "long face", "long face" ], "alt_id": [ "HP:0000334" ], "def": "Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).", "synonym": [ [ "elongation of face", "elongation of face" ], [ "increased height of face", "increase height of face" ], [ "increased length of face", "increased length of face" ], [ "increased vertical dimension of face", "increased vertical dimension of face" ], [ "long face", "long face" ], [ "long facies", "long facies" ], [ "vertical elongation of face", "vertical elongation of face" ], [ "vertical enlargement of face", "vertical enlargement of face" ], [ "vertical excess of face", "vertical excess of face" ], [ "vertical facial excess", "vertical facial excess" ], [ "vertical hyperplasia of face", "vertical hyperplasia of face" ], [ "vertical overgrowth of face", "vertical overgrowth of face" ] ], "xref": [ "UMLS:C1836047" ], "is_a": [ "HP:0100729" ], "is_obsolete": "", "replace_id": "" }, "HP:0000277": { "name": [ "abnormality of the mandible", "abnormality of the mandible" ], "alt_id": [ "HP:0000209" ], "def": "Any abnormality of the mandible, the bone of the lower jaw.", "synonym": [ [ "abnormality of the lower jaw bone", "abnormality of the low jaw bone" ], [ "abnormality of the mandible", "abnormality of the mandible" ], [ "anomaly of the mandible", "anomaly of the mandible" ], [ "deformity of the lower jaw bone", "deformity of the low jaw bone" ], [ "deformity of the mandible", "deformity of the mandible" ], [ "malformation of the lower jaw bone", "malformation of the low jaw bone" ], [ "malformation of the mandible", "malformation of the mandible" ] ], "xref": [ "UMLS:C4025870" ], "is_a": [ "HP:0030791" ], "is_obsolete": "", "replace_id": "" }, "HP:0000278": { "name": [ "retrognathia", "retrognathia" ], "alt_id": [ "HP:0002053", "HP:0002954" ], "def": "An abnormality in which the mandible is mislocalised posteriorly.", "synonym": [ [ "lower jaw retrognathia", "low jaw retrognathia" ], [ "receding chin", "recede chin" ], [ "receding lower jaw", "recede low jaw" ], [ "receding mandible", "recede mandible" ], [ "retrogenia", "retrogenia" ], [ "retrognathia of lower jaw", "retrognathia of low jaw" ], [ "weak chin", "weak chin" ], [ "weak jaw", "weak jaw" ] ], "xref": [ "MSH:D063173", "UMLS:C3494422" ], "is_a": [ "HP:0000277" ], "is_obsolete": "", "replace_id": "" }, "HP:0000280": { "name": [ "coarse facial features", "coarse facial feature" ], "alt_id": [ "HP:0000281", "HP:0004640" ], "def": "Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.", "synonym": [ [ "coarse face", "coarse face" ], [ "coarse facial appearance", "coarse facial appearance" ], [ "coarse facial features", "coarse facial feature" ], [ "coarse facies", "coarse facies" ], [ "rounded and heavy facial features", "round and heavy facial feature" ], [ "thickened facial skin with coarse facial features", "thicken facial skin with coarse facial feature" ] ], "xref": [ "UMLS:C1845847", "UMLS:C4072825" ], "is_a": [ "HP:0001999" ], "is_obsolete": "", "replace_id": "" }, "HP:0000282": { "name": [ "facial edema", "facial edema" ], "alt_id": [], "def": "", "synonym": [ [ "facial oedema", "facial oedema" ], [ "facial puffiness", "facial puffiness" ], [ "facial swelling", "facial swelling" ] ], "xref": [ "SNOMEDCT_US:445088006", "UMLS:C0542571" ], "is_a": [ "HP:0000969", "HP:0011799" ], "is_obsolete": "", "replace_id": "" }, "HP:0000283": { "name": [ "broad face", "broad face" ], "alt_id": [], "def": "Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).", "synonym": [ [ "broad face", "broad face" ], [ "broad facies", "broad facies" ], [ "horizontal excess of face", "horizontal excess of face" ], [ "horizontal hyperplasia of face", "horizontal hyperplasia of face" ], [ "increased breadth of face", "increase breadth of face" ], [ "increased horizontal dimension of face", "increase horizontal dimension of face" ], [ "increased transverse dimension of face", "increased transverse dimension of face" ], [ "increased width of face", "increase width of face" ], [ "transverse excess of face", "transverse excess of face" ], [ "transverse hyperplasia of face", "transverse hyperplasia of face" ], [ "wide face", "wide face" ], [ "wide facies", "wide facies" ] ], "xref": [ "UMLS:C1859680" ], "is_a": [ "HP:0100729" ], "is_obsolete": "", "replace_id": "" }, "HP:0000284": { "name": [ "obsolete abnormality of the ocular region", "obsolete abnormality of the ocular region" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000315" }, "HP:0000286": { "name": [ "epicanthus", "epicanthus" ], "alt_id": [ "HP:0000624", "HP:0007930" ], "def": "A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.", "synonym": [ [ "epicanthal fold", "epicanthal fold" ], [ "epicanthal folds", "epicanthal fold" ], [ "epicanthic folds", "epicanthic fold" ], [ "eye folds", "eye fold" ], [ "palpebronasal fold", "palpebronasal fold" ], [ "plica palpebronasalis", "plica palpebronasalis" ], [ "prominent eye folds", "prominent eye fold" ] ], "xref": [ "UMLS:C0678230" ], "is_a": [ "HP:0000492" ], "is_obsolete": "", "replace_id": "" }, "HP:0000287": { "name": [ "increased facial adipose tissue", "increase facial adipose tissue" ], "alt_id": [], "def": "An increased amount of subcutaneous fat tissue in the face.", "synonym": [ [ "facial fat hyperplasia", "facial fat hyperplasia" ], [ "facial fat hypertrophy", "facial fat hypertrophy" ], [ "hyperplasia of facial adipose tissue", "hyperplasia of facial adipose tissue" ], [ "hypertrophy of facial adipose tissue", "hypertrophy of facial adipose tissue" ], [ "increased amount of facial adipose tissue", "increased amount of facial adipose tissue" ], [ "increased amount of facial fat", "increased amount of facial fat" ], [ "increased volume of facial adipose tissue", "increased volume of facial adipose tissue" ] ], "xref": [ "UMLS:C4025868", "UMLS:C4280649", "UMLS:C4280650" ], "is_a": [ "HP:0000291" ], "is_obsolete": "", "replace_id": "" }, "HP:0000288": { "name": [ "abnormality of the philtrum", "abnormality of the philtrum" ], "alt_id": [ "HP:0011216" ], "def": "An abnormality of the philtrum.", "synonym": [ [ "abnormal philtrum", "abnormal philtrum" ], [ "abnormality of the infranasal depression", "abnormality of the infranasal depression" ], [ "abnormality of the paralabial region", "abnormality of the paralabial region" ] ], "xref": [ "UMLS:C1857045" ], "is_a": [ "HP:0000177" ], "is_obsolete": "", "replace_id": "" }, "HP:0000289": { "name": [ "broad philtrum", "broad philtrum" ], "alt_id": [], "def": "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.", "synonym": [ [ "increased breadth of philtrum", "increase breadth of philtrum" ], [ "increased horizontal dimension of philtrum", "increase horizontal dimension of philtrum" ], [ "increased transverse dimension of philtrum", "increased transverse dimension of philtrum" ], [ "increased width of philtrum", "increase width of philtrum" ], [ "wide philtrum", "wide philtrum" ] ], "xref": [ "UMLS:C1854111" ], "is_a": [ "HP:0000288" ], "is_obsolete": "", "replace_id": "" }, "HP:0000290": { "name": [ "abnormality of the forehead", "abnormality of the forehead" ], "alt_id": [], "def": "An anomaly of the forehead.", "synonym": [ [ "abnormality of the forehead", "abnormality of the forehead" ], [ "abnormality of the frontal region of the face", "abnormality of the frontal region of the face" ], [ "anomaly of the forehead", "anomaly of the forehead" ], [ "deformity of the forehead", "deformity of the forehead" ], [ "malformation of the forehead", "malformation of the forehead" ] ], "xref": [ "UMLS:C4025867" ], "is_a": [ "HP:0000271" ], "is_obsolete": "", "replace_id": "" }, "HP:0000291": { "name": [ "abnormality of facial adipose tissue", "abnormality of facial adipose tissue" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of facial fat", "abnormality of facial fat" ], [ "deformity of facial adipose tissue", "deformity of facial adipose tissue" ], [ "malformation of facial adipose tissue", "malformation of facial adipose tissue" ] ], "xref": [ "UMLS:C4025866" ], "is_a": [ "HP:0009124", "HP:0011799" ], "is_obsolete": "", "replace_id": "" }, "HP:0000292": { "name": [ "loss of facial adipose tissue", "loss of facial adipose tissue" ], "alt_id": [], "def": "Loss of normal subcutaneous fat tissue in the face.", "synonym": [ [ "decreased amount of facial adipose tissue", "decreased amount of facial adipose tissue" ], [ "decreased amount of facial fat", "decreased amount of facial fat" ], [ "decreased volume of facial adipose tissue", "decreased volume of facial adipose tissue" ], [ "loss of facial fat", "loss of facial fat" ], [ "loss of facial subcutaneous adipose tissue", "loss of facial subcutaneous adipose tissue" ], [ "loss of subcutaneous adipose tissue from face", "loss of subcutaneous adipose tissue from face" ] ], "xref": [ "UMLS:C1837767" ], "is_a": [ "HP:0000291", "HP:0008887" ], "is_obsolete": "", "replace_id": "" }, "HP:0000293": { "name": [ "full cheeks", "full cheek" ], "alt_id": [ "HP:0002262", "HP:0004427" ], "def": "Increased prominence or roundness of soft tissues between zygomata and mandible.", "synonym": [ [ "apple cheeks", "apple cheek" ], [ "big cheeks", "big cheek" ], [ "chubby cheeks", "chubby cheek" ], [ "full cheeks", "full cheek" ], [ "hyperplasia of cheeks", "hyperplasia of cheek" ], [ "hypertrophy of cheeks", "hypertrophy of cheek" ], [ "increased size of cheeks", "increase size of cheek" ], [ "large cheeks", "large cheek" ], [ "puffy cheeks", "puffy cheek" ] ], "xref": [ "UMLS:C1866231", "UMLS:C2748653", "UMLS:C3806443", "UMLS:C4280647", "UMLS:C4280648" ], "is_a": [ "HP:0004426" ], "is_obsolete": "", "replace_id": "" }, "HP:0000294": { "name": [ "low anterior hairline", "low anterior hairline" ], "alt_id": [], "def": "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.", "synonym": [ [ "low frontal hairline", "low frontal hairline" ], [ "low - set frontal hairline", "low - set frontal hairline" ] ], "xref": [ "UMLS:C1842366" ], "is_a": [ "HP:0000599" ], "is_obsolete": "", "replace_id": "" }, "HP:0000295": { "name": [ "doll - like facies", "doll - like facies" ], "alt_id": [], "def": "A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.", "synonym": [ [ "doll - like facial appearance", "doll - like facial appearance" ] ], "xref": [ "UMLS:C1856361" ], "is_a": [ "HP:0001999" ], "is_obsolete": "", "replace_id": "" }, "HP:0000297": { "name": [ "facial hypotonia", "facial hypotonia" ], "alt_id": [], "def": "Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).", "synonym": [ [ "atony of facial musculature", "atony of facial musculature" ], [ "decreased facial muscle tone", "decrease facial muscle tone" ], [ "hypotonic facies", "hypotonic facies" ], [ "low facial muscle tone", "low facial muscle tone" ], [ "reduced facial muscle tone", "reduce facial muscle tone" ] ], "xref": [ "UMLS:C1845251", "UMLS:C4280646" ], "is_a": [ "HP:0000301", "HP:0001252" ], "is_obsolete": "", "replace_id": "" }, "HP:0000298": { "name": [ "mask - like facies", "mask - like facies" ], "alt_id": [], "def": "A lack of facial expression often with staring eyes and a slightly open mouth.", "synonym": [ [ "amimia", "amimia" ], [ "expressionless face", "expressionless face" ], [ "lack of facial expression", "lack of facial expression" ], [ "mask - like facial appearance", "mask - like facial appearance" ], [ "masklike facies", "masklike facies" ] ], "xref": [ "SNOMEDCT_US:103606006", "UMLS:C0424448" ], "is_a": [ "HP:0004673" ], "is_obsolete": "", "replace_id": "" }, "HP:0000300": { "name": [ "oval face", "oval face" ], "alt_id": [], "def": "A face with a rounded and slightly elongated outline.", "synonym": [ [ "oval face", "oval face" ], [ "oval facial shape", "oval facial shape" ], [ "oval facies", "oval facies" ] ], "xref": [ "UMLS:C1849025" ], "is_a": [ "HP:0001999" ], "is_obsolete": "", "replace_id": "" }, "HP:0000301": { "name": [ "abnormality of facial musculature", "abnormality of facial musculature" ], "alt_id": [], "def": "An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).", "synonym": [ [ "abnormality of facial muscles", "abnormality of facial muscle" ], [ "facial muscle issue", "facial muscle issue" ] ], "xref": [ "UMLS:C4025865" ], "is_a": [ "HP:0011799", "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0000303": { "name": [ "mandibular prognathia", "mandibular prognathia" ], "alt_id": [ "HP:0000251", "HP:0000279", "HP:0000328", "HP:0002051", "HP:0004648", "HP:0004656", "HP:0008514" ], "def": "Abnormal prominence of the chin related to increased length of the mandible.", "synonym": [ [ "big lower jaw", "big low jaw" ], [ "big mandible", "big mandible" ], [ "enlarged mandible", "enlarge mandible" ], [ "enlargement of mandible", "enlargement of mandible" ], [ "hyperplasia of lower jaw", "hyperplasia of low jaw" ], [ "hypertrophy of lower jaw", "hypertrophy of low jaw" ], [ "hypertrophy of mandible", "hypertrophy of mandible" ], [ "increased projection of lower jaw", "increase projection of low jaw" ], [ "increased projection of mandible", "increase projection of mandible" ], [ "increased size of lower jaw", "increase size of low jaw" ], [ "increased size of mandible", "increase size of mandible" ], [ "large lower jaw", "large low jaw" ], [ "large mandible", "large mandible" ], [ "lower jaw excess", "low jaw excess" ], [ "lower jaw hyperplasia", "low jaw hyperplasia" ], [ "macromandible", "macromandible" ], [ "mandible prognathism", "mandible prognathism" ], [ "mandibular excess", "mandibular excess" ], [ "mandibular hyperplasia", "mandibular hyperplasia" ], [ "mandibular macrognathia", "mandibular macrognathia" ], [ "mandibular prognathism", "mandibular prognathism" ], [ "prognathia", "prognathia" ], [ "prognathism", "prognathism" ], [ "prominent chin", "prominent chin" ], [ "prominent jaw", "prominent jaw" ], [ "prominent lower jaw", "prominent low jaw" ], [ "prominent mandible", "prominent mandible" ], [ "relative mandibular prognathism", "relative mandibular prognathism" ] ], "xref": [ "MSH:D008313", "SNOMEDCT_US:109504005", "SNOMEDCT_US:22810007", "UMLS:C0302501", "UMLS:C0399526", "UMLS:C2227134", "UMLS:C4280644", "UMLS:C4280645" ], "is_a": [ "HP:0000277", "HP:0000306" ], "is_obsolete": "", "replace_id": "" }, "HP:0000306": { "name": [ "abnormality of the chin", "abnormality of the chin" ], "alt_id": [], "def": "An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.", "synonym": [ [ "abnormality of the chin", "abnormality of the chin" ], [ "abnormality of the menton", "abnormality of the menton" ], [ "anomaly of the chin", "anomaly of the chin" ], [ "deformity of the chin", "deformity of the chin" ], [ "malformation of the chin", "malformation of the chin" ] ], "xref": [ "UMLS:C4025864" ], "is_a": [ "HP:0000271" ], "is_obsolete": "", "replace_id": "" }, "HP:0000307": { "name": [ "pointed chin", "point chin" ], "alt_id": [ "HP:0005330" ], "def": "A marked tapering of the lower face to the chin.", "synonym": [ [ "pointed chin", "point chin" ], [ "pointed mention region", "point mention region" ], [ "pointy chin", "pointy chin" ], [ "small pointed chin", "small point chin" ], [ "witch 's chin", "witch 's chin" ] ], "xref": [ "UMLS:C1844505" ], "is_a": [ "HP:0000306" ], "is_obsolete": "", "replace_id": "" }, "HP:0000308": { "name": [ "microretrognathia", "microretrognathia" ], "alt_id": [], "def": "A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.", "synonym": [ [ "retromicrognathia", "retromicrognathia" ], [ "small retruded chin", "small retruded chin" ] ], "xref": [ "UMLS:C1839546" ], "is_a": [ "HP:0000278", "HP:0000347" ], "is_obsolete": "", "replace_id": "" }, "HP:0000309": { "name": [ "abnormality of the midface", "abnormality of the midface" ], "alt_id": [], "def": "An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.", "synonym": [ [ "abnormality of the midface", "abnormality of the midface" ], [ "anomaly of the midface", "anomaly of the midface" ], [ "deformity of the midface", "deformity of the midface" ], [ "malformation of the midface", "malformation of the midface" ] ], "xref": [ "UMLS:C4021811" ], "is_a": [ "HP:0000271" ], "is_obsolete": "", "replace_id": "" }, "HP:0000311": { "name": [ "round face", "round face" ], "alt_id": [ "HP:0000304", "HP:0004653" ], "def": "The facial appearance is more circular than usual as viewed from the front.", "synonym": [ [ "circular face", "circular face" ], [ "round face", "round face" ], [ "round facial appearance", "round facial appearance" ], [ "round facial shape", "round facial shape" ], [ "round facies", "round facies" ], [ "round , full face", "round , full face" ] ], "xref": [ "UMLS:C0239479", "UMLS:C1856468" ], "is_a": [ "HP:0001999" ], "is_obsolete": "", "replace_id": "" }, "HP:0000315": { "name": [ "abnormality of the orbital region", "abnormality of the orbital region" ], "alt_id": [ "HP:0000284" ], "def": "", "synonym": [ [ "abnormality of the eye region", "abnormality of the eye region" ], [ "abnormality of the region around the eyes", "abnormality of the region around the eye" ], [ "anomaly of the orbital region of the face", "anomaly of the orbital region of the face" ], [ "deformity of the orbital region of the face", "deformity of the orbital region of the face" ], [ "malformation of the orbital region of the face", "malformation of the orbital region of the face" ] ], "xref": [ "UMLS:C4025863" ], "is_a": [ "HP:0000271" ], "is_obsolete": "", "replace_id": "" }, "HP:0000316": { "name": [ "hypertelorism", "hypertelorism" ], "alt_id": [ "HP:0000578", "HP:0002001", "HP:0004657", "HP:0007871" ], "def": "Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).", "synonym": [ [ "excessive orbital separation", "excessive orbital separation" ], [ "increased distance between eye sockets", "increase distance between eye socket" ], [ "increased distance between eyes", "increase distance between eye" ], [ "increased interpupillary distance", "increase interpupillary distance" ], [ "ocular hypertelorism", "ocular hypertelorism" ], [ "wide - set eyes", "wide - set eye" ], [ "widely spaced eyes", "widely space eye" ], [ "widened interpupillary distance", "widen interpupillary distance" ] ], "xref": [ "MSH:D006972", "SNOMEDCT_US:194021007", "SNOMEDCT_US:22006008", "UMLS:C0020534" ], "is_a": [ "HP:0100886" ], "is_obsolete": "", "replace_id": "" }, "HP:0000317": { "name": [ "facial myokymia", "facial myokymia" ], "alt_id": [ "HP:0004651" ], "def": "Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).", "synonym": [ [ "involuntary facial contraction", "involuntary facial contraction" ], [ "involuntary facial quivering", "involuntary facial quivering" ] ], "xref": [ "MSH:D005155", "SNOMEDCT_US:1070000", "UMLS:C0270871" ], "is_a": [ "HP:0000301", "HP:0002411" ], "is_obsolete": "", "replace_id": "" }, "HP:0000319": { "name": [ "smooth philtrum", "smooth philtrum" ], "alt_id": [ "HP:0000299", "HP:0000323", "HP:0004663" ], "def": "Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.", "synonym": [ [ "decreased depth of philtrum", "decrease depth of philtrum" ], [ "flat philtrum", "flat philtrum" ], [ "indistinct philtrum", "indistinct philtrum" ], [ "philtrum , smooth", "philtrum , smooth" ], [ "shallow philtrum", "shallow philtrum" ], [ "simple philtrum", "simple philtrum" ] ], "xref": [ "UMLS:C1142533" ], "is_a": [ "HP:0000288" ], "is_obsolete": "", "replace_id": "" }, "HP:0000320": { "name": [ "bird - like facies", "bird - like facies" ], "alt_id": [], "def": "", "synonym": [ [ "bird - like facial appearance", "bird - like facial appearance" ] ], "xref": [ "UMLS:C1837758" ], "is_a": [ "HP:0001999" ], "is_obsolete": "", "replace_id": "" }, "HP:0000321": { "name": [ "square face", "square face" ], "alt_id": [], "def": "Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.", "synonym": [ [ "square face", "square face" ], [ "square facial shape", "square facial shape" ], [ "square facies", "square facies" ] ], "xref": [ "UMLS:C1832127" ], "is_a": [ "HP:0001999" ], "is_obsolete": "", "replace_id": "" }, "HP:0000322": { "name": [ "short philtrum", "short philtrum" ], "alt_id": [ "HP:0200090" ], "def": "Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.", "synonym": [ [ "decreased height of philtrum", "decreased height of philtrum" ], [ "decreased length of philtrum", "decreased length of philtrum" ], [ "decreased vertical dimension of philtrum", "decreased vertical dimension of philtrum" ], [ "vertical hypoplasia of philtrum", "vertical hypoplasia of philtrum" ] ], "xref": [ "UMLS:C1861324" ], "is_a": [ "HP:0000288" ], "is_obsolete": "", "replace_id": "" }, "HP:0000324": { "name": [ "facial asymmetry", "facial asymmetry" ], "alt_id": [ "HP:0003775" ], "def": "An abnormal difference between the left and right sides of the face.", "synonym": [ [ "asymmetric facies", "asymmetric facies" ], [ "asymmetry of face", "asymmetry of face" ], [ "asymmetry of right and left side of face", "asymmetry of right and leave side of face" ], [ "crooked face", "crooked face" ], [ "facial asymmetry", "facial asymmetry" ], [ "unbalanced face", "unbalanced face" ], [ "unequal sides of face", "unequal side of face" ], [ "uneven face", "uneven face" ], [ "uneven sides of face", "uneven side of face" ], [ "unsymmetrical face", "unsymmetrical face" ] ], "xref": [ "MSH:D005146", "SNOMEDCT_US:15253005", "UMLS:C1306710" ], "is_a": [ "HP:0001999" ], "is_obsolete": "", "replace_id": "" }, "HP:0000325": { "name": [ "triangular face", "triangular face" ], "alt_id": [ "HP:0004645", "HP:0004662", "HP:0004668" ], "def": "Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.", "synonym": [ [ "face with broad temples and narrow chin", "face with broad temple and narrow chin" ], [ "triangular face", "triangular face" ], [ "triangular facial shape", "triangular facial shape" ], [ "triangular facies", "triangular facies" ] ], "xref": [ "UMLS:C1835884" ], "is_a": [ "HP:0001999" ], "is_obsolete": "", "replace_id": "" }, "HP:0000326": { "name": [ "abnormality of the maxilla", "abnormality of the maxilla" ], "alt_id": [], "def": "An abnormality of the Maxilla (upper jaw bone).", "synonym": [ [ "abnormality of the upper jaw bone", "abnormality of the upper jaw bone" ], [ "abnormality of the upper jaw bones", "abnormality of the upper jaw bone" ], [ "anomaly of the maxilla", "anomaly of the maxilla" ], [ "deformity of the maxilla", "deformity of the maxilla" ], [ "deformity of the upper jaw bones", "deformity of the upper jaw bone" ], [ "malformation of the maxilla", "malformation of the maxilla" ], [ "malformation of the upper jaw bones", "malformation of the upper jaw bone" ] ], "xref": [ "UMLS:C4025862" ], "is_a": [ "HP:0030791" ], "is_obsolete": "", "replace_id": "" }, "HP:0000327": { "name": [ "hypoplasia of the maxilla", "hypoplasia of the maxilla" ], "alt_id": [ "HP:0004644" ], "def": "Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.", "synonym": [ [ "decreased projection of maxilla", "decreased projection of maxilla" ], [ "decreased projection of upper jaw", "decreased projection of upper jaw" ], [ "decreased size of maxilla", "decreased size of maxilla" ], [ "decreased size of upper jaw", "decreased size of upper jaw" ], [ "deficiency of upper jaw bones", "deficiency of upper jaw bone" ], [ "hypoplasia of upper jaw bones", "hypoplasia of upper jaw bone" ], [ "hypoplastic maxillary bones", "hypoplastic maxillary bone" ], [ "hypotrophic maxilla", "hypotrophic maxilla" ], [ "hypotrophic upper jaw bones", "hypotrophic upper jaw bone" ], [ "maxillary deficiency", "maxillary deficiency" ], [ "maxillary hypoplasia", "maxillary hypoplasia" ], [ "maxillary micrognathia", "maxillary micrognathia" ], [ "maxillary retrognathia", "maxillary retrognathia" ], [ "maxillary retrusion", "maxillary retrusion" ], [ "micromaxilla", "micromaxilla" ], [ "retrognathia of upper jaw", "retrognathia of upper jaw" ], [ "retrusion of upper jaw bones", "retrusion of upper jaw bone" ], [ "small maxilla", "small maxilla" ], [ "small upper jaw", "small upper jaw" ], [ "small upper jaw bones", "small upper jaw bone" ], [ "upper jaw deficiency", "upper jaw deficiency" ], [ "upper jaw retrusion", "upper jaw retrusion" ] ], "xref": [ "UMLS:C0240310", "UMLS:C4082243", "UMLS:C4280640", "UMLS:C4280641", "UMLS:C4280642", "UMLS:C4280643" ], "is_a": [ "HP:0000326" ], "is_obsolete": "", "replace_id": "" }, "HP:0000329": { "name": [ "facial hemangioma", "facial hemangioma" ], "alt_id": [], "def": "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.", "synonym": [ [ "facial hemangiomata", "facial hemangiomata" ] ], "xref": [ "UMLS:C1861443" ], "is_a": [ "HP:0001028", "HP:0011799" ], "is_obsolete": "", "replace_id": "" }, "HP:0000331": { "name": [ "short chin", "short chin" ], "alt_id": [], "def": "Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.", "synonym": [ [ "decreased height of chin", "decreased height of chin" ], [ "short chin", "short chin" ], [ "short lower third of face", "short low third of face" ], [ "small chin", "small chin" ], [ "vertical deficiency of chin", "vertical deficiency of chin" ], [ "vertical hypoplasia of chin", "vertical hypoplasia of chin" ] ], "xref": [ "SNOMEDCT_US:699439001", "UMLS:C1839323", "UMLS:C3697248" ], "is_a": [ "HP:0000306" ], "is_obsolete": "", "replace_id": "" }, "HP:0000336": { "name": [ "prominent supraorbital ridges", "prominent supraorbital ridge" ], "alt_id": [], "def": "Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.", "synonym": [ [ "hyperplasia of supraorbital margins", "hyperplasia of supraorbital margin" ], [ "hyperplasia of supraorbital ridge", "hyperplasia of supraorbital ridge" ], [ "hypertrophy of supraorbital margins", "hypertrophy of supraorbital margin" ], [ "hypertrophy of supraorbital ridge", "hypertrophy of supraorbital ridge" ], [ "prominent brow", "prominent brow" ], [ "prominent supraorbital margins", "prominent supraorbital margin" ], [ "prominent supraorbital ridge", "prominent supraorbital ridge" ], [ "protruding supraorbital ridge", "protrude supraorbital ridge" ], [ "supraorbital hyperostosis", "supraorbital hyperostosis" ] ], "xref": [ "UMLS:C1842060", "UMLS:C4280636", "UMLS:C4280637", "UMLS:C4280638", "UMLS:C4280639" ], "is_a": [ "HP:0100538" ], "is_obsolete": "", "replace_id": "" }, "HP:0000337": { "name": [ "broad forehead", "broad forehead" ], "alt_id": [ "HP:0000352", "HP:0000354" ], "def": "Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.", "synonym": [ [ "bitemporal widening", "bitemporal widening" ], [ "broad forehead", "broad forehead" ], [ "increased bitemporal dimension", "increase bitemporal dimension" ], [ "increased bitemporal width", "increase bitemporal width" ], [ "increased width of the forehead", "increase width of the forehead" ], [ "intertemporal widening", "intertemporal widening" ], [ "wide forehead", "wide forehead" ] ], "xref": [ "UMLS:C1849089" ], "is_a": [ "HP:0000290" ], "is_obsolete": "", "replace_id": "" }, "HP:0000338": { "name": [ "hypomimic face", "hypomimic face" ], "alt_id": [ "HP:0008769" ], "def": "A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.", "synonym": [ [ "decreased facial expressions", "decrease facial expression" ], [ "decreased facial muscle movement", "decrease facial muscle movement" ], [ "dull facial expression", "dull facial expression" ], [ "hypomimia", "hypomimia" ] ], "xref": [ "SNOMEDCT_US:248149005", "UMLS:C0813217", "UMLS:C1862474", "UMLS:C4280635" ], "is_a": [ "HP:0000301", "HP:0004673" ], "is_obsolete": "", "replace_id": "" }, "HP:0000339": { "name": [ "pugilistic facies", "pugilistic facies" ], "alt_id": [], "def": "Coarse facial features reminiscent of those of a boxer.", "synonym": [ [ "boxer - like facial appearance", "boxer - like facial appearance" ], [ "pugilistic facial appearance", "pugilistic facial appearance" ] ], "xref": [ "UMLS:C1846011" ], "is_a": [ "HP:0000280" ], "is_obsolete": "", "replace_id": "" }, "HP:0000340": { "name": [ "sloping forehead", "slop forehead" ], "alt_id": [ "HP:0000351", "HP:0004480", "HP:0008493", "HP:0008500" ], "def": "Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.", "synonym": [ [ "inclined forehead", "incline forehead" ], [ "posteriorly sloping forehead", "posteriorly slop forehead" ], [ "receding forehead", "recede forehead" ], [ "sloping forehead", "slop forehead" ] ], "xref": [ "UMLS:C1857679" ], "is_a": [ "HP:0000290" ], "is_obsolete": "", "replace_id": "" }, "HP:0000341": { "name": [ "narrow forehead", "narrow forehead" ], "alt_id": [ "HP:0000314", "HP:0004674", "HP:0004677" ], "def": "Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).", "synonym": [ [ "bitemporal narrowing", "bitemporal narrowing" ], [ "bitemporal narrowness", "bitemporal narrowness" ], [ "bitemporal skull narrowing", "bitemporal skull narrowing" ], [ "decreased width of the forehead", "decrease width of the forehead" ], [ "intertemporal narrowing", "intertemporal narrowing" ], [ "narrow bitemporal diameter", "narrow bitemporal diameter" ], [ "narrow bitemporal width", "narrow bitemporal width" ], [ "narrow forehead", "narrow forehead" ], [ "temporal narrowness", "temporal narrowness" ] ], "xref": [ "UMLS:C1839758" ], "is_a": [ "HP:0000290" ], "is_obsolete": "", "replace_id": "" }, "HP:0000343": { "name": [ "long philtrum", "long philtrum" ], "alt_id": [], "def": "Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.", "synonym": [ [ "elongated philtrum", "elongate philtrum" ], [ "increased height of philtrum", "increase height of philtrum" ], [ "increased length of philtrum", "increased length of philtrum" ], [ "increased vertical dimension of philtrum", "increased vertical dimension of philtrum" ], [ "vertical hyperplasia of philtrum", "vertical hyperplasia of philtrum" ] ], "xref": [ "UMLS:C1865014" ], "is_a": [ "HP:0000288" ], "is_obsolete": "", "replace_id": "" }, "HP:0000346": { "name": [ "whistling appearance", "whistle appearance" ], "alt_id": [], "def": "An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.", "synonym": [ [ "whistling appearance", "whistle appearance" ], [ "whistling facial appearance", "whistle facial appearance" ] ], "xref": [ "UMLS:C1848473" ], "is_a": [ "HP:0000205" ], "is_obsolete": "", "replace_id": "" }, "HP:0000347": { "name": [ "micrognathia", "micrognathia" ], "alt_id": [ "HP:0000210", "HP:0000330", "HP:0000345", "HP:0002005", "HP:0002674", "HP:0004669", "HP:0005460", "HP:0005470" ], "def": "Developmental hypoplasia of the mandible.", "synonym": [ [ "decreased projection of lower jaw", "decreased projection of low jaw" ], [ "decreased projection of mandible", "decreased projection of mandible" ], [ "decreased size of lower jaw", "decreased size of low jaw" ], [ "decreased size of mandible", "decreased size of mandible" ], [ "deficiency of lower jaw", "deficiency of low jaw" ], [ "hypoplasia of lower jaw", "hypoplasia of low jaw" ], [ "hypoplasia of mandible", "hypoplasia of mandible" ], [ "hypoplastic mandible", "hypoplastic mandible" ], [ "hypoplastic mandible condyle", "hypoplastic mandible condyle" ], [ "hypotrophic lower jaw", "hypotrophic low jaw" ], [ "hypotrophic mandible", "hypotrophic mandible" ], [ "little lower jaw", "little low jaw" ], [ "little mandible", "little mandible" ], [ "lower jaw deficiency", "low jaw deficiency" ], [ "lower jaw hypoplasia", "low jaw hypoplasia" ], [ "lower jaw retrusion", "low jaw retrusion" ], [ "mandibular deficiency", "mandibular deficiency" ], [ "mandibular hypoplasia", "mandibular hypoplasia" ], [ "mandibular micrognathia", "mandibular micrognathia" ], [ "mandibular retrognathia", "mandibular retrognathia" ], [ "mandibular retrusion", "mandibular retrusion" ], [ "micrognathia of lower jaw", "micrognathia of low jaw" ], [ "micromandible", "micromandible" ], [ "retrusion of lower jaw", "retrusion of low jaw" ], [ "robin mandible", "robin mandible" ], [ "severe hypoplasia of mandible", "severe hypoplasia of mandible" ], [ "small jaw", "small jaw" ], [ "small lower jaw", "small low jaw" ], [ "small mandible", "small mandible" ], [ "underdevelopment of lower jaw", "underdevelopment of low jaw" ], [ "underdevelopment of mandible", "underdevelopment of mandible" ] ], "xref": [ "Fyler:4163", "MSH:D008844", "SNOMEDCT_US:32958008", "UMLS:C0025990", "UMLS:C0240295", "UMLS:C1857130" ], "is_a": [ "HP:0009118" ], "is_obsolete": "", "replace_id": "" }, "HP:0000348": { "name": [ "high forehead", "high forehead" ], "alt_id": [ "HP:0000342" ], "def": "An abnormally increased height of the forehead.", "synonym": [ [ "high forehead", "high forehead" ], [ "tall forehead", "tall forehead" ] ], "xref": [ "UMLS:C0239676", "UMLS:C2677762" ], "is_a": [ "HP:0000290" ], "is_obsolete": "", "replace_id": "" }, "HP:0000349": { "name": [ "widow 's peak", "widow 's peak" ], "alt_id": [ "HP:0004544" ], "def": "Frontal hairline with bilateral arcs to a low point in the midline of the forehead.", "synonym": [ [ "hairline peak", "hairline peak" ], [ "hairline point", "hairline point" ], [ "pointed frontal hairline", "point frontal hairline" ], [ "pointed hairline at front of head", "point hairline at front of head" ], [ "v - shaped frontal hairline", "v - shaped frontal hairline" ], [ "widow 's peak", "widow 's peak" ] ], "xref": [ "UMLS:C1853486" ], "is_a": [ "HP:0009890" ], "is_obsolete": "", "replace_id": "" }, "HP:0000350": { "name": [ "small forehead", "small forehead" ], "alt_id": [], "def": "The presence of a forehead that is abnormally small.", "synonym": [ [ "decreased size of forehead", "decreased size of forehead" ], [ "decreased size of frontal region of face", "decreased size of frontal region of face" ], [ "hypoplasia of forehead", "hypoplasia of forehead" ], [ "hypotrophic forehead", "hypotrophic forehead" ], [ "small forehead", "small forehead" ] ], "xref": [ "UMLS:C1845250", "UMLS:C4280633", "UMLS:C4280634" ], "is_a": [ "HP:0000290" ], "is_obsolete": "", "replace_id": "" }, "HP:0000356": { "name": [ "abnormality of the outer ear", "abnormality of the outer ear" ], "alt_id": [ "HP:0001752" ], "def": "An abnormality of the external ear.", "synonym": [ [ "abnormal pinnae", "abnormal pinna" ], [ "abnormality of the auricle", "abnormality of the auricle" ], [ "abnormality of the external ear", "abnormality of the external ear" ], [ "abnormality of the outer ear", "abnormality of the outer ear" ], [ "ear anomalies", "ear anomaly" ], [ "external ear malformations", "external ear malformation" ], [ "malformed pinnae", "malformed pinna" ], [ "outer ear abnormality", "outer ear abnormality" ] ], "xref": [ "SNOMEDCT_US:275259005", "UMLS:C0266589", "UMLS:C1846460" ], "is_a": [ "HP:0031703" ], "is_obsolete": "", "replace_id": "" }, "HP:0000357": { "name": [ "abnormal location of ears", "abnormal location of ear" ], "alt_id": [], "def": "Abnormal location of the ear.", "synonym": [ [ "abnormal location of ears", "abnormal location of ear" ], [ "external ear position defect", "external ear position defect" ] ], "xref": [ "UMLS:C4021810" ], "is_a": [ "HP:0000356" ], "is_obsolete": "", "replace_id": "" }, "HP:0000358": { "name": [ "posteriorly rotated ears", "posteriorly rotate ear" ], "alt_id": [ "HP:0008535" ], "def": "A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).", "synonym": [ [ "ear , posterior angulation , increased", "ear , posterior angulation , increase" ], [ "ears rotated toward back of head", "ear rotate toward back of head" ], [ "posteriorly angulated ears", "posteriorly angulate ear" ], [ "posteriorly rotated", "posteriorly rotate" ], [ "posteriorly rotated auricles", "posteriorly rotate auricle" ], [ "posteriorly - angulated ears", "posteriorly - angulated ear" ], [ "posteriorly - rotated ears", "posteriorly - rotate ear" ] ], "xref": [ "SNOMEDCT_US:253251006", "UMLS:C0431478" ], "is_a": [ "HP:0000357" ], "is_obsolete": "", "replace_id": "" }, "HP:0000359": { "name": [ "abnormality of the inner ear", "abnormality of the inner ear" ], "alt_id": [], "def": "An abnormality of the inner ear.", "synonym": [ [ "abnormality of the inner ear", "abnormality of the inner ear" ], [ "inner ear abnormality", "inner ear abnormality" ] ], "xref": [ "UMLS:C4021809" ], "is_a": [ "HP:0031703" ], "is_obsolete": "", "replace_id": "" }, "HP:0000360": { "name": [ "tinnitus", "tinnitus" ], "alt_id": [], "def": "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.", "synonym": [ [ "ringing in ears", "ring in ear" ], [ "ringing in the ears", "ring in the ear" ] ], "xref": [ "MSH:D014012", "SNOMEDCT_US:162349004", "SNOMEDCT_US:162352007", "SNOMEDCT_US:60862001", "UMLS:C0040264" ], "is_a": [ "HP:0000364" ], "is_obsolete": "", "replace_id": "" }, "HP:0000361": { "name": [ "obsolete pulsatile tinnitus ( tympanic paraganglioma )", "obsolete pulsatile tinnitus ( tympanic paraganglioma )" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0008629" }, "HP:0000362": { "name": [ "otosclerosis", "otosclerosis" ], "alt_id": [], "def": "In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss.", "synonym": [], "xref": [ "MSH:D010040", "SNOMEDCT_US:11543004", "UMLS:C0029899" ], "is_a": [ "HP:0008628" ], "is_obsolete": "", "replace_id": "" }, "HP:0000363": { "name": [ "abnormality of earlobe", "abnormality of earlobe" ], "alt_id": [], "def": "An abnormality of the lobule of pinna.", "synonym": [ [ "abnormal earlobe", "abnormal earlobe" ], [ "abnormal lobe of ear", "abnormal lobe of ear" ], [ "abnormality of auricular lobule", "abnormality of auricular lobule" ], [ "abnormality of ear lobe", "abnormality of ear lobe" ], [ "abnormality of earlobe", "abnormality of earlobe" ], [ "abnormality of lobulus auriculae", "abnormality of lobulus auricula" ] ], "xref": [ "UMLS:C4021808" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0000364": { "name": [ "hearing abnormality", "hearing abnormality" ], "alt_id": [], "def": "An abnormality of the sensory perception of sound.", "synonym": [ [ "abnormal hearing", "abnormal hearing" ], [ "hearing abnormality", "hearing abnormality" ] ], "xref": [ "UMLS:C4025860" ], "is_a": [ "HP:0031704" ], "is_obsolete": "", "replace_id": "" }, "HP:0000365": { "name": [ "hearing impairment", "hearing impairment" ], "alt_id": [ "HP:0000404", "HP:0001728", "HP:0001729", "HP:0001754", "HP:0008560", "HP:0008563" ], "def": "A decreased magnitude of the sensory perception of sound.", "synonym": [ [ "deafness", "deafness" ], [ "hearing defect", "hearing defect" ], [ "hearing impairment", "hearing impairment" ], [ "hearing loss", "hearing loss" ], [ "hypacusis", "hypacusis" ], [ "hypoacusis", "hypoacusis" ] ], "xref": [ "Fyler:4868", "MSH:D003638", "MSH:D034381", "SNOMEDCT_US:103276001", "SNOMEDCT_US:15188001", "SNOMEDCT_US:343087000", "SNOMEDCT_US:95828007", "UMLS:C0011053", "UMLS:C0018772", "UMLS:C0339789", "UMLS:C1384666" ], "is_a": [ "HP:0000364" ], "is_obsolete": "", "replace_id": "" }, "HP:0000366": { "name": [ "abnormality of the nose", "abnormality of the nose" ], "alt_id": [], "def": "An abnormality of the nose.", "synonym": [ [ "abnormality of the nose", "abnormality of the nose" ], [ "anomaly of the nose", "anomaly of the nose" ], [ "deformity of the nose", "deformity of the nose" ], [ "malformation of the nose", "malformation of the nose" ], [ "nasal abnormality", "nasal abnormality" ], [ "nasal anomaly", "nasal anomaly" ], [ "nasal deformity", "nasal deformity" ], [ "nasal malformation", "nasal malformation" ] ], "xref": [ "SNOMEDCT_US:128274005", "SNOMEDCT_US:72089000", "UMLS:C0240547", "UMLS:C0265736", "UMLS:C2235909" ], "is_a": [ "HP:0000271" ], "is_obsolete": "", "replace_id": "" }, "HP:0000368": { "name": [ "low - set , posteriorly rotated ears", "low - set , posteriorly rotate ear" ], "alt_id": [], "def": "Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).", "synonym": [ [ "low - set posteriorly rotated ears", "low - set posteriorly rotated ear" ] ], "xref": [ "UMLS:C1857486" ], "is_a": [ "HP:0000358", "HP:0000369" ], "is_obsolete": "", "replace_id": "" }, "HP:0000369": { "name": [ "low - set ears", "low - set ear" ], "alt_id": [], "def": "Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.", "synonym": [ [ "low set ears", "low set ear" ], [ "low - set ears", "low - set ear" ], [ "low - set pinnae", "low - set pinna" ], [ "lowset ears", "lowset ear" ], [ "melotia", "melotia" ] ], "xref": [ "SNOMEDCT_US:95515009", "UMLS:C0239234" ], "is_a": [ "HP:0000357" ], "is_obsolete": "", "replace_id": "" }, "HP:0000370": { "name": [ "abnormality of the middle ear", "abnormality of the middle ear" ], "alt_id": [], "def": "An abnormality of the middle ear.", "synonym": [ [ "middle ear abnormalities", "middle ear abnormality" ], [ "middle ear abnormality", "middle ear abnormality" ] ], "xref": [ "UMLS:C1861141" ], "is_a": [ "HP:0031703" ], "is_obsolete": "", "replace_id": "" }, "HP:0000371": { "name": [ "acute otitis media", "acute otitis medium" ], "alt_id": [], "def": "Acute otitis media is a short and generally painful infection of the middle ear.", "synonym": [ [ "acute middle ear infection", "acute middle ear infection" ] ], "xref": [ "SNOMEDCT_US:3110003", "UMLS:C0271429" ], "is_a": [ "HP:0000388" ], "is_obsolete": "", "replace_id": "" }, "HP:0000372": { "name": [ "abnormality of the auditory canal", "abnormality of the auditory canal" ], "alt_id": [], "def": "An abnormality of the External acoustic tube (also known as the auditory canal).", "synonym": [ [ "auditory canal abnormality", "auditory canal abnormality" ] ], "xref": [ "UMLS:C4021807" ], "is_a": [ "HP:0000356" ], "is_obsolete": "", "replace_id": "" }, "HP:0000375": { "name": [ "abnormal cochlea morphology", "abnormal cochlea morphology" ], "alt_id": [], "def": "An abnormality of the cochlea.", "synonym": [ [ "abnormality of cochlea", "abnormality of cochlea" ] ], "xref": [ "UMLS:C4025858" ], "is_a": [ "HP:0011390" ], "is_obsolete": "", "replace_id": "" }, "HP:0000376": { "name": [ "incomplete partition of the cochlea type ii", "incomplete partition of the cochlea type ii" ], "alt_id": [], "def": "IWith incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation.", "synonym": [ [ "mondini malformation", "mondini malformation" ] ], "xref": [ "UMLS:C1857078", "UMLS:C4025857" ], "is_a": [ "HP:0011373" ], "is_obsolete": "", "replace_id": "" }, "HP:0000377": { "name": [ "abnormality of the pinna", "abnormality of the pinna" ], "alt_id": [ "HP:0000390", "HP:0000398", "HP:0004465", "HP:0008562", "HP:0008566", "HP:0008567", "HP:0008580", "HP:0008582", "HP:0008602" ], "def": "An abnormality of the pinna, which is also referred to as the auricle or external ear.", "synonym": [ [ "abnormal form of ears", "abnormal form of ear" ], [ "abnormally shaped ears", "abnormally shaped ear" ], [ "auricular malformation", "auricular malformation" ], [ "deformed auricles", "deform auricle" ], [ "deformed ears", "deform ear" ], [ "dysplastic ears", "dysplastic ear" ], [ "malformation of auricle", "malformation of auricle" ], [ "malformed auricles", "malformed auricle" ], [ "malformed ears", "malformed ear" ], [ "malformed external ears", "malformed external ear" ], [ "minor malformation of the auricles", "minor malformation of the auricle" ], [ "poorly defined conchae", "poorly define concha" ] ], "xref": [ "SNOMEDCT_US:253255002", "UMLS:C0431483", "UMLS:C0857379" ], "is_a": [ "HP:0000356" ], "is_obsolete": "", "replace_id": "" }, "HP:0000378": { "name": [ "cupped ear", "cup ear" ], "alt_id": [ "HP:0008531", "HP:0008600" ], "def": "Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).", "synonym": [ [ "capuchin ears", "capuchin ear" ], [ "cup - shaped ears", "cup - shaped ear" ], [ "cupped ear", "cup ear" ], [ "cupped ears", "cupped ear" ], [ "simple , cup - shaped ears", "simple , cup - shaped ear" ] ], "xref": [ "UMLS:C1845447", "UMLS:C4020892" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0000381": { "name": [ "stapes ankylosis", "stapes ankylosis" ], "alt_id": [], "def": "Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).", "synonym": [ [ "stapes fixation", "stapes fixation" ] ], "xref": [ "UMLS:C1861326" ], "is_a": [ "HP:0008628" ], "is_obsolete": "", "replace_id": "" }, "HP:0000383": { "name": [ "abnormality of periauricular region", "abnormality of periauricular region" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the region around the ear", "abnormality of the region around the ear" ], [ "anomaly of the periauricular region", "anomaly of the periauricular region" ], [ "deformity of the periauricular region", "deformity of the periauricular region" ], [ "malformation of the periauricular region", "malformation of the periauricular region" ] ], "xref": [ "UMLS:C4025856" ], "is_a": [ "HP:0004426" ], "is_obsolete": "", "replace_id": "" }, "HP:0000384": { "name": [ "preauricular skin tag", "preauricular skin tag" ], "alt_id": [ "HP:0008575", "HP:0100278" ], "def": "A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).", "synonym": [ [ "ear tag", "ear tag" ], [ "periauricular skin tag", "periauricular skin tag" ], [ "preauricular acrochordon", "preauricular acrochordon" ], [ "preauricular fibroepithelial polyp", "preauricular fibroepithelial polyp" ], [ "preauricular skin tags", "preauricular skin tag" ], [ "preauricular tag", "preauricular tag" ], [ "preauricular tags", "preauricular tag" ], [ "skin tag in front of the ear", "skin tag in front of the ear" ], [ "skin tag on the posterior cheek", "skin tag on the posterior cheek" ] ], "xref": [ "UMLS:C1860816", "UMLS:C4072826" ], "is_a": [ "HP:0000383", "HP:0010609" ], "is_obsolete": "", "replace_id": "" }, "HP:0000385": { "name": [ "small earlobe", "small earlobe" ], "alt_id": [ "HP:0008616" ], "def": "Reduced volume of the earlobe.", "synonym": [ [ "hypoplastic earlobes", "hypoplastic earlobe" ], [ "hypoplastic lobules", "hypoplastic lobule" ], [ "small earlobe", "small earlobe" ], [ "small earlobes", "small earlobe" ] ], "xref": [ "UMLS:C1842680" ], "is_a": [ "HP:0009906" ], "is_obsolete": "", "replace_id": "" }, "HP:0000387": { "name": [ "absent earlobe", "absent earlobe" ], "alt_id": [], "def": "Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.", "synonym": [ [ "absent ear lobes", "absent ear lobe" ], [ "absent earlobe", "absent earlobe" ], [ "earlobe , absent", "earlobe , absent" ], [ "lobeless ears", "lobeless ear" ] ], "xref": [ "UMLS:C1849364" ], "is_a": [ "HP:0009906" ], "is_obsolete": "", "replace_id": "" }, "HP:0000388": { "name": [ "otitis media", "otitis medium" ], "alt_id": [], "def": "Inflammation or infection of the middle ear.", "synonym": [ [ "middle ear infection", "middle ear infection" ] ], "xref": [ "MSH:D010033", "SNOMEDCT_US:65363002", "UMLS:C0029882" ], "is_a": [ "HP:0000370", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0000389": { "name": [ "chronic otitis media", "chronic otitis medium" ], "alt_id": [ "HP:0008524" ], "def": "Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.", "synonym": [ [ "chronic ear infection", "chronic ear infection" ], [ "chronic infections of the middle ear", "chronic infection of the middle ear" ], [ "chronic middle ear infection", "chronic middle ear infection" ], [ "otitis media , chronic", "otitis medium , chronic" ] ], "xref": [ "SNOMEDCT_US:21186006", "UMLS:C0271441", "UMLS:C0743359" ], "is_a": [ "HP:0000388" ], "is_obsolete": "", "replace_id": "" }, "HP:0000391": { "name": [ "thickened helices", "thicken helix" ], "alt_id": [], "def": "Increased thickness of the helix of the ear.", "synonym": [ [ "thick helix", "thick helix" ] ], "xref": [ "UMLS:C1837732" ], "is_a": [ "HP:0011039" ], "is_obsolete": "", "replace_id": "" }, "HP:0000394": { "name": [ "lop ear", "lop ear" ], "alt_id": [], "def": "Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.", "synonym": [], "xref": [ "SNOMEDCT_US:76223006", "UMLS:C0266614" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0000395": { "name": [ "prominent antihelix", "prominent antihelix" ], "alt_id": [], "def": "The presence of an abnormally prominent antihelix.", "synonym": [], "xref": [ "UMLS:C1845272" ], "is_a": [ "HP:0009738" ], "is_obsolete": "", "replace_id": "" }, "HP:0000396": { "name": [ "overfolded helix", "overfolded helix" ], "alt_id": [ "HP:0001758", "HP:0008570" ], "def": "A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.", "synonym": [ [ "over - folded helices", "over - folded helix" ], [ "overfolded ears", "overfolded ear" ], [ "overfolded helices", "overfolded helix" ] ], "xref": [ "UMLS:C1837731" ], "is_a": [ "HP:0008544" ], "is_obsolete": "", "replace_id": "" }, "HP:0000399": { "name": [ "prelingual sensorineural hearing impairment", "prelingual sensorineural hearing impairment" ], "alt_id": [ "HP:0001731" ], "def": "A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.", "synonym": [ [ "deafness , sensorineural , prelingual", "deafness , sensorineural , prelingual" ], [ "prelingual sensorineural deafness", "prelingual sensorineural deafness" ] ], "xref": [ "UMLS:C4021806" ], "is_a": [ "HP:0011474" ], "is_obsolete": "", "replace_id": "" }, "HP:0000400": { "name": [ "macrotia", "macrotia" ], "alt_id": [ "HP:0000382", "HP:0000386", "HP:0000401", "HP:0001755" ], "def": "Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).", "synonym": [ [ "large ears", "large ear" ], [ "large pinnae", "large pinna" ] ], "xref": [ "SNOMEDCT_US:275480001", "SNOMEDCT_US:69056000", "UMLS:C0152421", "UMLS:C0554972", "UMLS:C1835581", "UMLS:C1848570", "UMLS:C1850189", "UMLS:C1855062", "UMLS:C1860838" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0000402": { "name": [ "stenosis of the external auditory canal", "stenosis of the external auditory canal" ], "alt_id": [ "HP:0000373" ], "def": "An abnormal narrowing of the external auditory canal.", "synonym": [ [ "external auditory canal stenosis", "external auditory canal stenosis" ], [ "narrow auditory canals", "narrow auditory canal" ], [ "narrow ear canal", "narrow ear canal" ], [ "narrow external auditory canals", "narrow external auditory canal" ], [ "narrow external auditory meatus", "narrow external auditory meatus" ], [ "narrowing of passageway from outer ear to middle ear", "narrowing of passageway from out ear to middle ear" ], [ "stenotic external auditory canal", "stenotic external auditory canal" ] ], "xref": [ "SNOMEDCT_US:300127002", "SNOMEDCT_US:301061006", "UMLS:C0395837", "UMLS:C0576860" ], "is_a": [ "HP:0000372" ], "is_obsolete": "", "replace_id": "" }, "HP:0000403": { "name": [ "recurrent otitis media", "recurrent otitis medium" ], "alt_id": [ "HP:0008622", "HP:0008623", "HP:0008624" ], "def": "Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.", "synonym": [ [ "frequent otitis media", "frequent otitis medium" ], [ "multiple episodes of otitis media", "multiple episode of otitis medium" ], [ "otitis media , recurrent", "otitis medium , recurrent" ], [ "recurrent episodes of otitis media", "recurrent episode of otitis medium" ], [ "recurrent middle ear infection", "recurrent middle ear infection" ], [ "susceptibility to otitis media", "susceptibility to otitis medium" ] ], "xref": [ "UMLS:C0747085" ], "is_a": [ "HP:0000388", "HP:0002719" ], "is_obsolete": "", "replace_id": "" }, "HP:0000405": { "name": [ "conductive hearing impairment", "conductive hearing impairment" ], "alt_id": [ "HP:0000367", "HP:0008581" ], "def": "An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.", "synonym": [ [ "conduction deafness", "conduction deafness" ], [ "conductive deafness", "conductive deafness" ], [ "conductive hearing loss", "conductive hearing loss" ], [ "hearing loss , conductive", "hearing loss , conductive" ] ], "xref": [ "MSH:D006314", "SNOMEDCT_US:44057004", "UMLS:C0018777" ], "is_a": [ "HP:0000365", "HP:0011452" ], "is_obsolete": "", "replace_id": "" }, "HP:0000407": { "name": [ "sensorineural hearing impairment", "sensorineural hearing impairment" ], "alt_id": [ "HP:0000374", "HP:0001753", "HP:0001916", "HP:0008538", "HP:0008553", "HP:0008565", "HP:0008576", "HP:0008611", "HP:0008613", "HP:0008614" ], "def": "A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.", "synonym": [ [ "hearing loss , sensorineural", "hearing loss , sensorineural" ], [ "sensorineural deafness", "sensorineural deafness" ], [ "sensorineural hearing loss", "sensorineural hearing loss" ] ], "xref": [ "MSH:D006319", "SNOMEDCT_US:60700002", "UMLS:C0018784" ], "is_a": [ "HP:0000365", "HP:0011389" ], "is_obsolete": "", "replace_id": "" }, "HP:0000408": { "name": [ "progressive sensorineural hearing impairment", "progressive sensorineural hearing impairment" ], "alt_id": [ "HP:0000397", "HP:0000406", "HP:0008592", "HP:0008601", "HP:0008617" ], "def": "A progressive form of sensorineural hearing impairment.", "synonym": [ [ "bilateral progressive sensorineural hearing loss", "bilateral progressive sensorineural hearing loss" ], [ "hearing loss , progressive sensorineural", "hearing loss , progressive sensorineural" ], [ "hearing loss , sensorineural , bilateral , progressive", "hearing loss , sensorineural , bilateral , progressive" ], [ "hearing loss , sensorineural , progressive", "hearing loss , sensorineural , progressive" ], [ "progressive bilateral sensorineural hearing loss", "progressive bilateral sensorineural hearing loss" ], [ "sensorineural hearing loss , progressive", "sensorineural hearing loss , progressive" ] ], "xref": [ "UMLS:C1843156" ], "is_a": [ "HP:0000407", "HP:0001730" ], "is_obsolete": "", "replace_id": "" }, "HP:0000410": { "name": [ "mixed hearing impairment", "mixed hearing impairment" ], "alt_id": [], "def": "A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.", "synonym": [ [ "hearing loss , mixed", "hearing loss , mixed" ], [ "mixed hearing impairment", "mixed hearing impairment" ], [ "mixed hearing loss", "mixed hearing loss" ] ], "xref": [ "MSH:D046089", "SNOMEDCT_US:77507001", "UMLS:C0155552" ], "is_a": [ "HP:0000405", "HP:0000407" ], "is_obsolete": "", "replace_id": "" }, "HP:0000411": { "name": [ "protruding ear", "protrude ear" ], "alt_id": [ "HP:0000412" ], "def": "Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).", "synonym": [ [ "prominent ear", "prominent ear" ], [ "prominent ears", "prominent ear" ], [ "protruding ears", "protrude ear" ] ], "xref": [ "SNOMEDCT_US:275478007", "UMLS:C1305420", "UMLS:C1855285" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0000413": { "name": [ "atresia of the external auditory canal", "atresia of the external auditory canal" ], "alt_id": [ "HP:0008547", "HP:0008564", "HP:0008626" ], "def": "Absence or failure to form of the external auditory canal.", "synonym": [ [ "absent auditory canals", "absent auditory canal" ], [ "absent ear canal", "absent ear canal" ], [ "absent external auditory canals", "absent external auditory canal" ], [ "atresia of the external auditory canals", "atresia of the external auditory canal" ], [ "atretic auditory canal", "atretic auditory canal" ], [ "atretic auditory canals", "atretic auditory canal" ], [ "atretic external auditory canal", "atretic external auditory canal" ], [ "atretic external auditory canals", "atretic external auditory canal" ], [ "auditory canal atresia", "auditory canal atresia" ], [ "external acoustic meatus atresia", "external acoustic meatus atresia" ], [ "external auditory canal atresia", "external auditory canal atresia" ], [ "external auditory meatal atresia", "external auditory meatal atresia" ], [ "external auditory meatus atresia", "external auditory meatus atresia" ] ], "xref": [ "UMLS:C1398325", "UMLS:C1840305", "UMLS:C1857079", "UMLS:C1866190" ], "is_a": [ "HP:0000372" ], "is_obsolete": "", "replace_id": "" }, "HP:0000414": { "name": [ "bulbous nose", "bulbous nose" ], "alt_id": [ "HP:0000443" ], "def": "Increased volume and globular shape of the anteroinferior aspect of the nose.", "synonym": [ [ "bulbous nasal tip", "bulbous nasal tip" ], [ "bulbous nose", "bulbous nose" ], [ "potato nose", "potato nose" ] ], "xref": [ "MSH:C538354", "UMLS:C0240543", "UMLS:C1834118", "UMLS:C1855751" ], "is_a": [ "HP:0000436", "HP:0005105" ], "is_obsolete": "", "replace_id": "" }, "HP:0000415": { "name": [ "abnormality of the choanae", "abnormality of the choanae" ], "alt_id": [], "def": "Abnormality of the choanae (the posterior nasal apertures).", "synonym": [], "xref": [ "UMLS:C4025855" ], "is_a": [ "HP:0000366" ], "is_obsolete": "", "replace_id": "" }, "HP:0000417": { "name": [ "slender nose", "slender nose" ], "alt_id": [], "def": "", "synonym": [ [ "slender nose", "slender nose" ] ], "xref": [ "UMLS:C1857645" ], "is_a": [ "HP:0005105" ], "is_obsolete": "", "replace_id": "" }, "HP:0000418": { "name": [ "narrow nasal ridge", "narrow nasal ridge" ], "alt_id": [], "def": "Decreased width of the nasal ridge.", "synonym": [ [ "decreased width of dorsum of nose", "decrease width of dorsum of nose" ], [ "decreased width of nasal dorsum", "decrease width of nasal dorsum" ], [ "decreased width of nasal ridge", "decrease width of nasal ridge" ], [ "narrow dorsum of nose", "narrow dorsum of nose" ], [ "narrow nasal dorsum", "narrow nasal dorsum" ], [ "narrow nasal ridge", "narrow nasal ridge" ], [ "pinched nose", "pinch nose" ], [ "thin dorsum of nose", "thin dorsum of nose" ], [ "thin nasal dorsum", "thin nasal dorsum" ], [ "thin nasal ridge", "thin nasal ridge" ] ], "xref": [ "UMLS:C1837761" ], "is_a": [ "HP:0011119" ], "is_obsolete": "", "replace_id": "" }, "HP:0000419": { "name": [ "abnormality of the nasal septum", "abnormality of the nasal septum" ], "alt_id": [], "def": "An abnormality of the nasal septum.", "synonym": [ [ "abnormality of septum of nose", "abnormality of septum of nose" ], [ "abnormality of the nasal septum", "abnormality of the nasal septum" ], [ "anomaly of nasal septum", "anomaly of nasal septum" ], [ "anomaly of septum of nose", "anomaly of septum of nose" ] ], "xref": [ "SNOMEDCT_US:95433000", "UMLS:C0151790" ], "is_a": [ "HP:0000366" ], "is_obsolete": "", "replace_id": "" }, "HP:0000420": { "name": [ "short nasal septum", "short nasal septum" ], "alt_id": [], "def": "Reduced superior to inferior length of the nasal septum.", "synonym": [ [ "decreased length of nasal septum", "decreased length of nasal septum" ], [ "decreased length of septum of nose", "decreased length of septum of nose" ], [ "short nasal septum", "short nasal septum" ], [ "short septum of nose", "short septum of nose" ] ], "xref": [ "UMLS:C1844857" ], "is_a": [ "HP:0000419" ], "is_obsolete": "", "replace_id": "" }, "HP:0000421": { "name": [ "epistaxis", "epistaxis" ], "alt_id": [], "def": "Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.", "synonym": [ [ "bloody nose", "bloody nose" ], [ "frequent nosebleeds", "frequent nosebleed" ], [ "nasal haemorrhage", "nasal haemorrhage" ], [ "nasal hemorrhage", "nasal hemorrhage" ], [ "nose bleed", "nose bleed" ], [ "nose bleeding", "nose bleed" ], [ "nosebleed", "nosebleed" ] ], "xref": [ "COHD:318556", "EFO:0003895", "ICD10:R04.0", "ICD9:784.7", "MSH:D004844", "NCIT:C26766", "SNOMEDCT_US:12441001", "SNOMEDCT_US:249366005", "UMLS:C0014591" ], "is_a": [ "HP:0000366", "HP:0001892" ], "is_obsolete": "", "replace_id": "" }, "HP:0000422": { "name": [ "abnormal nasal bridge morphology", "abnormal nasal bridge morphology" ], "alt_id": [ "HP:0000423" ], "def": "Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.", "synonym": [ [ "abnormality of the bridge of the nose", "abnormality of the bridge of the nose" ], [ "abnormality of the nasal bridge", "abnormality of the nasal bridge" ], [ "abnormality of the nasal root", "abnormality of the nasal root" ], [ "deformity of the bridge of the nose", "deformity of the bridge of the nose" ], [ "deformity of the nasal bridge", "deformity of the nasal bridge" ], [ "malformation of the bridge of the nose", "malformation of the bridge of the nose" ], [ "malformation of the nasal bridge", "malformation of the nasal bridge" ] ], "xref": [ "UMLS:C4021805" ], "is_a": [ "HP:0005105" ], "is_obsolete": "", "replace_id": "" }, "HP:0000426": { "name": [ "prominent nasal bridge", "prominent nasal bridge" ], "alt_id": [ "HP:0000432", "HP:0000442", "HP:0004498", "HP:0005287" ], "def": "Anterior positioning of the nasal root in comparison to the usual positioning for age.", "synonym": [ [ "convex bridge of nose", "convex bridge of nose" ], [ "convex nasal bridge", "convex nasal bridge" ], [ "elevated nasal bridge", "elevate nasal bridge" ], [ "high nasal bridge", "high nasal bridge" ], [ "prominent bridge of nose", "prominent bridge of nose" ], [ "prominent nasal bridge", "prominent nasal bridge" ], [ "prominent nasal root", "prominent nasal root" ], [ "protruding bridge of nose", "protrude bridge of nose" ], [ "protruding nasal bridge", "protrude nasal bridge" ] ], "xref": [ "UMLS:C1854113", "UMLS:C4230640" ], "is_a": [ "HP:0000422" ], "is_obsolete": "", "replace_id": "" }, "HP:0000429": { "name": [ "abnormality of the nasal alae", "abnormality of the nasal ala" ], "alt_id": [], "def": "An abnormality of the Ala of nose.", "synonym": [ [ "abnormality of the nasal ala", "abnormality of the nasal ala" ], [ "abnormality of the nasal alar cartilage", "abnormality of the nasal alar cartilage" ], [ "deformity of the nasal ala", "deformity of the nasal ala" ], [ "deformity of the nasal alar cartilage", "deformity of the nasal alar cartilage" ], [ "malformation of the nasal ala", "malformation of the nasal ala" ], [ "malformation of the nasal alar cartilage", "malformation of the nasal alar cartilage" ] ], "xref": [ "UMLS:C2227020", "UMLS:C4021804", "UMLS:C4280631", "UMLS:C4280632" ], "is_a": [ "HP:0010938" ], "is_obsolete": "", "replace_id": "" }, "HP:0000430": { "name": [ "underdeveloped nasal alae", "underdeveloped nasal ala" ], "alt_id": [ "HP:0004497", "HP:0004507", "HP:0005276", "HP:0005277", "HP:0005286" ], "def": "Thinned, deficient, or excessively arched ala nasi.", "synonym": [ [ "ala nasi , underdeveloped", "ala nasi , underdevelop" ], [ "alar cartilage hypoplasia", "alar cartilage hypoplasia" ], [ "decreased size of nasal alae", "decreased size of nasal ala" ], [ "hypoplastic alae nasae", "hypoplastic ala nasae" ], [ "hypoplastic alae nasi", "hypoplastic ala nasi" ], [ "hypoplastic alar cartilage", "hypoplastic alar cartilage" ], [ "hypoplastic alar nasae", "hypoplastic alar nasae" ], [ "hypoplastic nares", "hypoplastic naris" ], [ "hypoplastic nasal alae", "hypoplastic nasal ala" ], [ "hypoplastic nasal wings", "hypoplastic nasal wing" ], [ "hypoplastic nostrils", "hypoplastic nostril" ], [ "nasal cartilage hypoplasia", "nasal cartilage hypoplasia" ], [ "small nasal alae", "small nasal ala" ], [ "thin hypoplastic alae nasi", "thin hypoplastic ala nasi" ], [ "underdeveloped tissue around nostril", "underdeveloped tissue around nostril" ] ], "xref": [ "UMLS:C1834055" ], "is_a": [ "HP:0000429", "HP:0009924" ], "is_obsolete": "", "replace_id": "" }, "HP:0000431": { "name": [ "wide nasal bridge", "wide nasal bridge" ], "alt_id": [ "HP:0000424", "HP:0004500", "HP:0004504", "HP:0004650", "HP:0200139" ], "def": "Increased breadth of the nasal bridge (and with it, the nasal root).", "synonym": [ [ "broad flat nasal bridge", "broad flat nasal bridge" ], [ "broad nasal bridge", "broad nasal bridge" ], [ "broad nasal root", "broad nasal root" ], [ "broadened nasal bridge", "broaden nasal bridge" ], [ "increased breadth of bridge of nose", "increase breadth of bridge of nose" ], [ "increased breadth of nasal bridge", "increase breadth of nasal bridge" ], [ "increased width of bridge of nose", "increase width of bridge of nose" ], [ "increased width of nasal bridge", "increase width of nasal bridge" ], [ "nasal bridge broad", "nasal bridge broad" ], [ "nasal bridge , wide", "nasal bridge , wide" ], [ "wide bridge of nose", "wide bridge of nose" ], [ "wide nasal bridge", "wide nasal bridge" ], [ "widened nasal bridge", "widen nasal bridge" ] ], "xref": [ "SNOMEDCT_US:249321001", "UMLS:C1839764", "UMLS:C1849367" ], "is_a": [ "HP:0000422" ], "is_obsolete": "", "replace_id": "" }, "HP:0000433": { "name": [ "abnormal nasal mucosa morphology", "abnormal nasal mucosa morphology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of mucosa of nose", "abnormality of mucosa of nose" ], [ "abnormality of mucous membrane of nose", "abnormality of mucous membrane of nose" ], [ "abnormality of nasal mucous membrane", "abnormality of nasal mucous membrane" ], [ "abnormality of the nasal mucosa", "abnormality of the nasal mucosa" ] ], "xref": [ "UMLS:C4025854" ], "is_a": [ "HP:0000366" ], "is_obsolete": "", "replace_id": "" }, "HP:0000434": { "name": [ "nasal mucosa telangiectasia", "nasal mucosa telangiectasia" ], "alt_id": [], "def": "Telangiectasia of the nasal mucosa.", "synonym": [ [ "angioectasia of mucosa of nose", "angioectasia of mucosa of nose" ], [ "angioectasia of mucous membrane of nose", "angioectasia of mucous membrane of nose" ], [ "angioectasia of nasal mucous membrane", "angioectasia of nasal mucous membrane" ], [ "nasal mucous membrane telangiectasia", "nasal mucous membrane telangiectasia" ], [ "spider veins of mucosa of nose", "spider vein of mucosa of nose" ], [ "spider veins of mucous membrane of nose", "spider vein of mucous membrane of nose" ], [ "spider veins of nasal mucous membrane", "spider vein of nasal mucous membrane" ], [ "telangiectasia of mucosa of nose", "telangiectasia of mucosa of nose" ], [ "telangiectasia of mucous membrane of nose", "telangiectasia of mucous membrane of nose" ], [ "telangiectasia of nasal mucous membrane", "telangiectasia of nasal mucous membrane" ] ], "xref": [ "UMLS:C4025853" ], "is_a": [ "HP:0000433", "HP:0100579" ], "is_obsolete": "", "replace_id": "" }, "HP:0000436": { "name": [ "abnormality of the nasal tip", "abnormality of the nasal tip" ], "alt_id": [], "def": "An abnormality of the nasal tip.", "synonym": [ [ "abnormality of the nasal tip", "abnormality of the nasal tip" ], [ "abnormality of tip of nose", "abnormality of tip of nose" ], [ "deformity of the nasal tip", "deformity of the nasal tip" ], [ "deformity of tip of nose", "deformity of tip of nose" ], [ "malformation of the nasal tip", "malformation of the nasal tip" ], [ "malformation of tip of nose", "malformation of tip of nose" ] ], "xref": [ "UMLS:C4025852" ], "is_a": [ "HP:0010938" ], "is_obsolete": "", "replace_id": "" }, "HP:0000437": { "name": [ "depressed nasal tip", "depress nasal tip" ], "alt_id": [ "HP:0005279" ], "def": "Decreased distance from the nasal tip to the nasal base.", "synonym": [ [ "caved in nasal tip", "cave in nasal tip" ], [ "depressed nasal tip", "depress nasal tip" ], [ "depressed tip of nose", "depressed tip of nose" ], [ "flat nasal tip", "flat nasal tip" ], [ "flat tip of nose", "flat tip of nose" ], [ "flattened nasal tip", "flatten nasal tip" ], [ "nasal tip , depressed", "nasal tip , depress" ], [ "nasal tip , recessed", "nasal tip , recess" ], [ "nasal tip , retruded", "nasal tip , retruded" ], [ "retruded tip of nose", "retruded tip of nose" ] ], "xref": [ "UMLS:C1859717" ], "is_a": [ "HP:0000436" ], "is_obsolete": "", "replace_id": "" }, "HP:0000444": { "name": [ "convex nasal ridge", "convex nasal ridge" ], "alt_id": [], "def": "Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.", "synonym": [ [ "beaked nose", "beak nose" ], [ "beaklike protrusion", "beaklike protrusion" ], [ "convex dorsum of nose", "convex dorsum of nose" ], [ "convex nasal dorsum", "convex nasal dorsum" ], [ "hooked nose", "hook nose" ], [ "polly beak nasal deformity", "polly beak nasal deformity" ] ], "xref": [ "UMLS:C0240538" ], "is_a": [ "HP:0011119" ], "is_obsolete": "", "replace_id": "" }, "HP:0000445": { "name": [ "wide nose", "wide nose" ], "alt_id": [ "HP:0000438" ], "def": "Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.", "synonym": [ [ "broad nose", "broad nose" ], [ "increased breadth of nose", "increase breadth of nose" ], [ "increased nasal breadth", "increase nasal breadth" ], [ "increased nasal width", "increase nasal width" ], [ "increased width of nose", "increase width of nose" ], [ "wide nose", "wide nose" ] ], "xref": [ "SNOMEDCT_US:249321001", "UMLS:C0426421" ], "is_a": [ "HP:0005105" ], "is_obsolete": "", "replace_id": "" }, "HP:0000446": { "name": [ "narrow nasal bridge", "narrow nasal bridge" ], "alt_id": [ "HP:0100782" ], "def": "Decreased width of the bony bridge of the nose.", "synonym": [ [ "narrow bridge of nose", "narrow bridge of nose" ], [ "narrow nasal bridge", "narrow nasal bridge" ], [ "narrow nasal root", "narrow nasal root" ], [ "nasal bridge , narrow", "nasal bridge , narrow" ], [ "nasal bridge , thin", "nasal bridge , thin" ], [ "pinched bridge of nose", "pinch bridge of nose" ], [ "pinched nasal bridge", "pinch nasal bridge" ] ], "xref": [ "UMLS:C4551564" ], "is_a": [ "HP:0000422" ], "is_obsolete": "", "replace_id": "" }, "HP:0000447": { "name": [ "pear - shaped nose", "pear - shape nose" ], "alt_id": [], "def": "", "synonym": [ [ "pear - shaped nose", "pear - shape nose" ] ], "xref": [ "UMLS:C1853482" ], "is_a": [ "HP:0005105" ], "is_obsolete": "", "replace_id": "" }, "HP:0000448": { "name": [ "prominent nose", "prominent nose" ], "alt_id": [ "HP:0000461", "HP:0005271", "HP:0200140" ], "def": "Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.", "synonym": [ [ "big nose", "big nose" ], [ "disproportionately large nose", "disproportionately large nose" ], [ "hyperplasia of nose", "hyperplasia of nose" ], [ "hypertrophy of nose", "hypertrophy of nose" ], [ "increased nasal size", "increase nasal size" ], [ "increased size of nose", "increase size of nose" ], [ "large nose", "large nose" ], [ "nasal hyperplasia", "nasal hyperplasia" ], [ "nasal hypertrophy", "nasal hypertrophy" ], [ "prominent nose", "prominent nose" ], [ "pronounced nose", "pronounce nose" ] ], "xref": [ "SNOMEDCT_US:249311009", "UMLS:C0426415", "UMLS:C1400105", "UMLS:C4280629" ], "is_a": [ "HP:0005105" ], "is_obsolete": "", "replace_id": "" }, "HP:0000451": { "name": [ "triangular nasal tip", "triangular nasal tip" ], "alt_id": [], "def": "", "synonym": [ [ "triangular nasal tip", "triangular nasal tip" ], [ "triangular shaped tip of nose", "triangular shape tip of nose" ] ], "xref": [ "UMLS:C1839765" ], "is_a": [ "HP:0000436" ], "is_obsolete": "", "replace_id": "" }, "HP:0000452": { "name": [ "choanal stenosis", "choanal stenosis" ], "alt_id": [], "def": "Abnormal narrowing of the choana (the posterior nasal aperture).", "synonym": [ [ "coanal stenosis", "coanal stenosis" ], [ "narrowing of the rear opening of the nasal cavity", "narrowing of the rear opening of the nasal cavity" ] ], "xref": [ "SNOMEDCT_US:306963008", "UMLS:C0584837" ], "is_a": [ "HP:0000415" ], "is_obsolete": "", "replace_id": "" }, "HP:0000453": { "name": [ "choanal atresia", "choanal atresia" ], "alt_id": [ "HP:0000416", "HP:0004503" ], "def": "Absence or abnormal closure of the choana (the posterior nasal aperture).", "synonym": [ [ "blockage of the rear opening of the nasal cavity", "blockage of the rear opening of the nasal cavity" ], [ "obstruction of the rear opening of the nasal cavity", "obstruction of the rear opening of the nasal cavity" ] ], "xref": [ "Fyler:4203", "MSH:D002754", "SNOMEDCT_US:204508009", "UMLS:C0008297" ], "is_a": [ "HP:0000415" ], "is_obsolete": "", "replace_id": "" }, "HP:0000454": { "name": [ "flared nostrils", "flare nostril" ], "alt_id": [], "def": "", "synonym": [ [ "flared nasal alae", "flare nasal ala" ], [ "flared nostrils", "flare nostril" ] ], "xref": [ "SNOMEDCT_US:21558008", "SNOMEDCT_US:248568003", "UMLS:C0277873" ], "is_a": [ "HP:0000429" ], "is_obsolete": "", "replace_id": "" }, "HP:0000455": { "name": [ "broad nasal tip", "broad nasal tip" ], "alt_id": [ "HP:0004501", "HP:0005269" ], "def": "Increase in width of the nasal tip.", "synonym": [ [ "broad nasal tip", "broad nasal tip" ], [ "broad tip of nose", "broad tip of nose" ], [ "broad upturned nose", "broad upturned nose" ], [ "broad , upturned nose", "broad , upturned nose" ], [ "increased breadth of nasal tip", "increase breadth of nasal tip" ], [ "increased breadth of tip of nose", "increase breadth of tip of nose" ], [ "increased width of nasal tip", "increase width of nasal tip" ], [ "increased width of tip of nose", "increase width of tip of nose" ], [ "nasal tip , broad", "nasal tip , broad" ], [ "nasal tip , wide", "nasal tip , wide" ], [ "wide tip of nose", "wide tip of nose" ] ], "xref": [ "SNOMEDCT_US:249327002", "UMLS:C0426429" ], "is_a": [ "HP:0000436", "HP:0000463" ], "is_obsolete": "", "replace_id": "" }, "HP:0000456": { "name": [ "bifid nasal tip", "bifid nasal tip" ], "alt_id": [ "HP:0005282" ], "def": "A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.", "synonym": [ [ "bifid tip of nose", "bifid tip of nose" ], [ "cleft nasal tip", "cleft nasal tip" ], [ "cleft tip of nose", "cleft tip of nose" ], [ "notched nasal tip", "notch nasal tip" ], [ "notched tip of nose", "notched tip of nose" ] ], "xref": [ "SNOMEDCT_US:249326006", "UMLS:C0426428", "UMLS:C4020890" ], "is_a": [ "HP:0000436" ], "is_obsolete": "", "replace_id": "" }, "HP:0000457": { "name": [ "depressed nasal ridge", "depress nasal ridge" ], "alt_id": [], "def": "Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.", "synonym": [ [ "depressed dorsum of nose", "depressed dorsum of nose" ], [ "depressed nasal dorsum", "depress nasal dorsum" ], [ "flat dorsum of nose", "flat dorsum of nose" ], [ "flat nasal dorsum", "flat nasal dorsum" ], [ "flat nose", "flat nose" ], [ "recessed dorsum of nose", "recess dorsum of nose" ], [ "recessed nasal dorsum", "recess nasal dorsum" ], [ "recessed nasal ridge", "recess nasal ridge" ], [ "retruded dorsum of nose", "retruded dorsum of nose" ], [ "retruded nasal dorsum", "retruded nasal dorsum" ], [ "retruded nasal ridge", "retruded nasal ridge" ] ], "xref": [ "UMLS:C1842876" ], "is_a": [ "HP:0011119" ], "is_obsolete": "", "replace_id": "" }, "HP:0000458": { "name": [ "anosmia", "anosmia" ], "alt_id": [], "def": "An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.", "synonym": [ [ "loss of smell", "loss of smell" ], [ "lost smell", "lose smell" ] ], "xref": [ "MSH:D000857", "SNOMEDCT_US:44169009", "UMLS:C0003126" ], "is_a": [ "HP:0004408" ], "is_obsolete": "", "replace_id": "" }, "HP:0000460": { "name": [ "narrow nose", "narrow nose" ], "alt_id": [], "def": "Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.", "synonym": [ [ "decreased nasal breadth", "decrease nasal breadth" ], [ "decreased nasal width", "decrease nasal width" ], [ "narrow nose", "narrow nose" ], [ "thin nose", "thin nose" ] ], "xref": [ "SNOMEDCT_US:249322008", "UMLS:C0426422" ], "is_a": [ "HP:0005105" ], "is_obsolete": "", "replace_id": "" }, "HP:0000463": { "name": [ "anteverted nares", "anteverted naris" ], "alt_id": [ "HP:0000427", "HP:0000435", "HP:0000441" ], "def": "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).", "synonym": [ [ "anteverted nose", "anteverted nose" ], [ "anteverted nostrils", "anteverted nostril" ], [ "nasal tip , upturned", "nasal tip , upturned" ], [ "nostrils anteverted", "nostril anteverted" ], [ "upturned nares", "upturned naris" ], [ "upturned nasal tip", "upturned nasal tip" ], [ "upturned nasal tips", "upturned nasal tip" ], [ "upturned nose", "upturned nose" ], [ "upturned nostrils", "upturned nostril" ] ], "xref": [ "SNOMEDCT_US:708670007", "UMLS:C1840077" ], "is_a": [ "HP:0000429", "HP:0005105", "HP:0005288" ], "is_obsolete": "", "replace_id": "" }, "HP:0000464": { "name": [ "abnormality of the neck", "abnormality of the neck" ], "alt_id": [], "def": "An abnormality of the neck.", "synonym": [ [ "abnormality of the neck", "abnormality of the neck" ], [ "anomaly of the neck", "anomaly of the neck" ], [ "deformity of the neck", "deformity of the neck" ], [ "malformation of the neck", "malformation of the neck" ] ], "xref": [ "SNOMEDCT_US:298390003", "SNOMEDCT_US:40052002", "UMLS:C0266623", "UMLS:C0575167", "UMLS:C4280628" ], "is_a": [ "HP:0000152" ], "is_obsolete": "", "replace_id": "" }, "HP:0000465": { "name": [ "webbed neck", "web neck" ], "alt_id": [], "def": "Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.", "synonym": [ [ "neck webbing", "neck web" ], [ "pterygium colli", "pterygium colli" ], [ "webbed neck", "web neck" ] ], "xref": [ "SNOMEDCT_US:11731003", "UMLS:C0221217" ], "is_a": [ "HP:0000464" ], "is_obsolete": "", "replace_id": "" }, "HP:0000466": { "name": [ "limited neck range of motion", "limited neck range of motion" ], "alt_id": [], "def": "", "synonym": [ [ "limited cervical range of motion", "limited cervical range of motion" ], [ "limited neck range of motion", "limited neck range of motion" ] ], "xref": [ "UMLS:C1859212" ], "is_a": [ "HP:0005986" ], "is_obsolete": "", "replace_id": "" }, "HP:0000467": { "name": [ "neck muscle weakness", "neck muscle weakness" ], "alt_id": [], "def": "Decreased strength of the neck musculature.", "synonym": [ [ "flaccid neck", "flaccid neck" ], [ "floppy neck", "floppy neck" ], [ "neck muscle weakness", "neck muscle weakness" ] ], "xref": [ "UMLS:C0240479" ], "is_a": [ "HP:0001324" ], "is_obsolete": "", "replace_id": "" }, "HP:0000468": { "name": [ "increased adipose tissue around the neck", "increase adipose tissue around the neck" ], "alt_id": [], "def": "An increased amount of subcutaneous fat tissue around the neck.", "synonym": [ [ "increased fat around the neck", "increase fat around the neck" ] ], "xref": [ "UMLS:C4025850" ], "is_a": [ "HP:0000464", "HP:0009126" ], "is_obsolete": "", "replace_id": "" }, "HP:0000470": { "name": [ "short neck", "short neck" ], "alt_id": [ "HP:0005992", "HP:0200137" ], "def": "Diminished length of the neck.", "synonym": [ [ "cervical shortening", "cervical shortening" ], [ "decreased cervical height", "decreased cervical height" ], [ "decreased cervical length", "decreased cervical length" ], [ "decreased length of neck", "decreased length of neck" ], [ "short neck", "short neck" ] ], "xref": [ "SNOMEDCT_US:95427009", "UMLS:C0521525" ], "is_a": [ "HP:0000464", "HP:0003319" ], "is_obsolete": "", "replace_id": "" }, "HP:0000471": { "name": [ "gastrointestinal angiodysplasia", "gastrointestinal angiodysplasia" ], "alt_id": [], "def": "Dysplasia affecting the vasculature of the gastrointestinal tract.", "synonym": [ [ "gi angiodysplasia", "gi angiodysplasia" ] ], "xref": [ "UMLS:C0854242" ], "is_a": [ "HP:0004296" ], "is_obsolete": "", "replace_id": "" }, "HP:0000472": { "name": [ "long neck", "long neck" ], "alt_id": [], "def": "Increased inferior-superior length of the neck.", "synonym": [ [ "cervical elongation", "cervical elongation" ], [ "elongated neck", "elongate neck" ], [ "increased cervical length", "increased cervical length" ], [ "increased length of neck", "increased length of neck" ], [ "long neck", "long neck" ] ], "xref": [ "UMLS:C1839816" ], "is_a": [ "HP:0000464" ], "is_obsolete": "", "replace_id": "" }, "HP:0000473": { "name": [ "torticollis", "torticollis" ], "alt_id": [], "def": "Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.", "synonym": [ [ "cervical dystonia", "cervical dystonia" ], [ "loxia", "loxia" ], [ "spasmodic torticollis", "spasmodic torticollis" ], [ "wry neck", "wry neck" ] ], "xref": [ "MSH:D014103", "SNOMEDCT_US:270476009", "SNOMEDCT_US:70070008", "SNOMEDCT_US:74333002", "UMLS:C0040485", "UMLS:C0152116", "UMLS:C0949445" ], "is_a": [ "HP:0011006", "HP:0011442", "HP:0012179" ], "is_obsolete": "", "replace_id": "" }, "HP:0000474": { "name": [ "thickened nuchal skin fold", "thicken nuchal skin fold" ], "alt_id": [ "HP:0000477" ], "def": "A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (PMID:16100637).", "synonym": [ [ "excess nuchal skin", "excess nuchal skin" ], [ "increased nuchal fold thickness", "increase nuchal fold thickness" ], [ "thickened nuchal skin", "thicken nuchal skin" ], [ "thickened skin folds of neck", "thicken skin fold of neck" ], [ "thickened skin over the neck", "thicken skin over the neck" ] ], "xref": [ "UMLS:C1836940" ], "is_a": [ "HP:0000464", "HP:0011425" ], "is_obsolete": "", "replace_id": "" }, "HP:0000475": { "name": [ "broad neck", "broad neck" ], "alt_id": [], "def": "Increased side-to-side width of the neck.", "synonym": [ [ "broad neck", "broad neck" ], [ "increased width of neck", "increase width of neck" ], [ "thick neck", "thick neck" ], [ "wide neck", "wide neck" ] ], "xref": [ "UMLS:C1853638" ], "is_a": [ "HP:0000464" ], "is_obsolete": "", "replace_id": "" }, "HP:0000476": { "name": [ "cystic hygroma", "cystic hygroma" ], "alt_id": [], "def": "A cystic lymphatic lesion of the neck.", "synonym": [ [ "cystic hygroma of the neck", "cystic hygroma of the neck" ] ], "xref": [ "MSH:D018191", "NCIT:C8965", "SNOMEDCT_US:399882002", "SNOMEDCT_US:40225001", "SNOMEDCT_US:423984004", "UMLS:C0206620" ], "is_a": [ "HP:0000464" ], "is_obsolete": "", "replace_id": "" }, "HP:0000478": { "name": [ "abnormality of the eye", "abnormality of the eye" ], "alt_id": [], "def": "Any abnormality of the eye, including location, spacing, and intraocular abnormalities.", "synonym": [ [ "abnormal eye", "abnormal eye" ], [ "abnormality of the eye", "abnormality of the eye" ], [ "eye disease", "eye disease" ] ], "xref": [ "MSH:D005124", "MSH:D005128", "SNOMEDCT_US:19416009", "SNOMEDCT_US:371405004", "SNOMEDCT_US:371409005", "UMLS:C0015393", "UMLS:C0015397" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0000479": { "name": [ "abnormal retinal morphology", "abnormal retinal morphology" ], "alt_id": [ "HP:0007938" ], "def": "A structural abnormality of the retina.", "synonym": [ [ "abnormal retina", "abnormal retina" ], [ "abnormality of the retina", "abnormality of the retina" ], [ "anomaly of the retina", "anomaly of the retina" ], [ "retina issue", "retina issue" ], [ "retinal disease", "retinal disease" ] ], "xref": [ "MSH:D012164", "SNOMEDCT_US:29555009", "UMLS:C0035300", "UMLS:C0035309" ], "is_a": [ "HP:0001098" ], "is_obsolete": "", "replace_id": "" }, "HP:0000480": { "name": [ "retinal coloboma", "retinal coloboma" ], "alt_id": [ "HP:0007808" ], "def": "A notch or cleft of the retina.", "synonym": [ [ "hole in the back of the eye", "hole in the back of the eye" ] ], "xref": [ "UMLS:C3540764" ], "is_a": [ "HP:0000479", "HP:0000589" ], "is_obsolete": "", "replace_id": "" }, "HP:0000481": { "name": [ "abnormal cornea morphology", "abnormal cornea morphology" ], "alt_id": [ "HP:0007771", "HP:0007972" ], "def": "Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.", "synonym": [ [ "abnormality of the cornea", "abnormality of the cornea" ], [ "corneal abnormalities", "corneal abnormality" ], [ "corneal abnormality", "corneal abnormality" ], [ "cornela disease", "cornela disease" ] ], "xref": [ "UMLS:C1855670", "UMLS:C4020889" ], "is_a": [ "HP:0004328" ], "is_obsolete": "", "replace_id": "" }, "HP:0000482": { "name": [ "microcornea", "microcornea" ], "alt_id": [ "HP:0100688" ], "def": "A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.", "synonym": [ [ "cornea of eye less than 10mm in diameter", "cornea of eye less than 10mm in diameter" ], [ "decreased corneal diameter", "decrease corneal diameter" ] ], "xref": [ "SNOMEDCT_US:26098002", "UMLS:C0266544", "UMLS:C1167713" ], "is_a": [ "HP:0001120" ], "is_obsolete": "", "replace_id": "" }, "HP:0000483": { "name": [ "astigmatism", "astigmatism" ], "alt_id": [], "def": "A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.", "synonym": [ [ "abnormal curving of the cornea or lens of the eye", "abnormal curving of the cornea or lens of the eye" ], [ "astigmatism", "astigmatism" ] ], "xref": [ "MSH:D001251", "SNOMEDCT_US:82649003", "UMLS:C0004106" ], "is_a": [ "HP:0000539", "HP:0100691" ], "is_obsolete": "", "replace_id": "" }, "HP:0000484": { "name": [ "hyperopic astigmatism", "hyperopic astigmatism" ], "alt_id": [], "def": "A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.", "synonym": [], "xref": [ "SNOMEDCT_US:449734001", "UMLS:C1847524" ], "is_a": [ "HP:0000483" ], "is_obsolete": "", "replace_id": "" }, "HP:0000485": { "name": [ "megalocornea", "megalocornea" ], "alt_id": [ "HP:0007660" ], "def": "An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.", "synonym": [ [ "anterior megalophthalmos", "anterior megalophthalmos" ], [ "enlarged cornea", "enlarge cornea" ], [ "increased corneal diameter", "increase corneal diameter" ], [ "macrocornea", "macrocornea" ] ], "xref": [ "MSH:C562829", "SNOMEDCT_US:204118005", "SNOMEDCT_US:268158009", "UMLS:C0344530", "UMLS:C1167712" ], "is_a": [ "HP:0001120" ], "is_obsolete": "", "replace_id": "" }, "HP:0000486": { "name": [ "strabismus", "strabismus" ], "alt_id": [ "HP:0000487" ], "def": "A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.", "synonym": [ [ "cross - eyed", "cross - eyed" ], [ "squint", "squint" ], [ "squint eyes", "squint eye" ] ], "xref": [ "MSH:D013285", "SNOMEDCT_US:128602000", "SNOMEDCT_US:22066006", "UMLS:C0038379" ], "is_a": [ "HP:0000549" ], "is_obsolete": "", "replace_id": "" }, "HP:0000487": { "name": [ "obsolete congenital strabismus", "obsolete congenital strabismus" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000486" }, "HP:0000488": { "name": [ "retinopathy", "retinopathy" ], "alt_id": [], "def": "Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.", "synonym": [ [ "noninflammatory retina disease", "noninflammatory retina disease" ] ], "xref": [ "MSH:D012164", "SNOMEDCT_US:29555009", "UMLS:C0035309" ], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0000489": { "name": [ "obsolete abnormality of globe location or size", "obsolete abnormality of globe location or size" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0000490": { "name": [ "deeply set eye", "deeply set eye" ], "alt_id": [ "HP:0000663" ], "def": "An eye that is more deeply recessed into the plane of the face than is typical.", "synonym": [ [ "deep set eye", "deep set eye" ], [ "deep - set eyes", "deep - set eye" ], [ "deeply set eye", "deeply set eye" ], [ "enophthalmos", "enophthalmos" ], [ "ocular depression", "ocular depression" ], [ "sunken eye", "sink eye" ], [ "sunken eyes", "sunken eye" ] ], "xref": [ "MSH:D015841", "SNOMEDCT_US:246923005", "SNOMEDCT_US:80093006", "UMLS:C0014306", "UMLS:C0423224" ], "is_a": [ "HP:0100886" ], "is_obsolete": "", "replace_id": "" }, "HP:0000491": { "name": [ "keratitis", "keratitis" ], "alt_id": [], "def": "Inflammation of the cornea.", "synonym": [ [ "corneal inflammation", "corneal inflammation" ] ], "xref": [ "MSH:D007634", "SNOMEDCT_US:5888003", "UMLS:C0022568" ], "is_a": [ "HP:0011495", "HP:0100533" ], "is_obsolete": "", "replace_id": "" }, "HP:0000492": { "name": [ "abnormal eyelid morphology", "abnormal eyelid morphology" ], "alt_id": [ "HP:0000285" ], "def": "An abnormality of the eyelids.", "synonym": [ [ "abnormality of the eyelid", "abnormality of the eyelid" ], [ "abnormality of the eyelids", "abnormality of the eyelid" ] ], "xref": [ "UMLS:C4021803" ], "is_a": [ "HP:0030669" ], "is_obsolete": "", "replace_id": "" }, "HP:0000493": { "name": [ "abnormal foveal morphology", "abnormal foveal morphology" ], "alt_id": [], "def": "An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.", "synonym": [ [ "abnormality of the fovea", "abnormality of the fovea" ] ], "xref": [ "UMLS:C4025849" ], "is_a": [ "HP:0001103" ], "is_obsolete": "", "replace_id": "" }, "HP:0000494": { "name": [ "downslanted palpebral fissures", "downslanted palpebral fissure" ], "alt_id": [ "HP:0007714", "HP:0007908" ], "def": "The palpebral fissure inclination is more than two standard deviations below the mean.", "synonym": [ [ "antimongoloid eye slant", "antimongoloid eye slant" ], [ "antimongoloid slant of palpebral fissures", "antimongoloid slant of palpebral fissure" ], [ "antimongoloid slanted palpebral fissures", "antimongoloid slant palpebral fissure" ], [ "down slanting palpebral fissures", "down slant palpebral fissure" ], [ "down - slanted palpebral fissures", "down - slanted palpebral fissure" ], [ "down - slanting palpebral fissure", "down - slant palpebral fissure" ], [ "down - slanting palpebral fissures", "down - slant palpebral fissure" ], [ "downslanting palpebral fissure", "downslanting palpebral fissure" ], [ "downslanting palpebral fissures", "downslanting palpebral fissure" ], [ "downward slanted palpebral fissures", "downward slant palpebral fissure" ], [ "downward slanting of the opening between the eyelids", "downward slanting of the opening between the eyelid" ], [ "downward slanting palpebral fissures", "downward slant palpebral fissure" ], [ "downward - slanting palpebral fissures", "downward - slant palpebral fissure" ], [ "palpebral fissures down - slanted", "palpebral fissure down - slanted" ] ], "xref": [ "SNOMEDCT_US:246800008", "UMLS:C0423110" ], "is_a": [ "HP:0200006" ], "is_obsolete": "", "replace_id": "" }, "HP:0000495": { "name": [ "recurrent corneal erosions", "recurrent corneal erosion" ], "alt_id": [ "HP:0007674", "HP:0007749" ], "def": "The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.", "synonym": [ [ "corneal erosions , recurrent", "corneal erosion , recurrent" ], [ "epithelial corneal erosions", "epithelial corneal erosion" ], [ "recurrent breakdown of clear protective layer of eye", "recurrent breakdown of clear protective layer of eye" ], [ "recurrent corneal ulceration", "recurrent corneal ulceration" ], [ "recurrent corneal ulcerations", "recurrent corneal ulceration" ] ], "xref": [ "MSH:D003320", "SNOMEDCT_US:2055003", "SNOMEDCT_US:91514001", "UMLS:C0010043", "UMLS:C0155119", "UMLS:C4020888" ], "is_a": [ "HP:0200020" ], "is_obsolete": "", "replace_id": "" }, "HP:0000496": { "name": [ "abnormality of eye movement", "abnormality of eye movement" ], "alt_id": [ "HP:0006860" ], "def": "An abnormality in voluntary or involuntary eye movements or their control.", "synonym": [ [ "abnormal extraocular movement", "abnormal extraocular movement" ], [ "abnormal extraocular movements", "abnormal extraocular movement" ], [ "abnormal eye motility", "abnormal eye motility" ], [ "abnormal eye movement", "abnormal eye movement" ], [ "abnormal eye movements", "abnormal eye movement" ], [ "abnormal motility of the globe of the eye", "abnormal motility of the globe of the eye" ], [ "abnormal movement of the globe of the eye", "abnormal movement of the globe of the eye" ], [ "abnormal ocular movements", "abnormal ocular movement" ], [ "abnormality of eye movement", "abnormality of eye movement" ], [ "eye movement abnormalities", "eye movement abnormality" ], [ "eye movement issue", "eye movement issue" ], [ "ocular movement abnormalities", "ocular movement abnormality" ], [ "oculomotor abnormalities", "oculomotor abnormality" ] ], "xref": [ "SNOMEDCT_US:103252009", "UMLS:C0497202" ], "is_a": [ "HP:0012373" ], "is_obsolete": "", "replace_id": "" }, "HP:0000497": { "name": [ "globe retraction and deviation on abduction", "globe retraction and deviation on abduction" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025848" ], "is_a": [ "HP:0011347" ], "is_obsolete": "", "replace_id": "" }, "HP:0000498": { "name": [ "blepharitis", "blepharitis" ], "alt_id": [], "def": "Inflammation of the eyelids.", "synonym": [ [ "cellulitis of eyelids", "cellulitis of eyelid" ], [ "inflammation of eyelids", "inflammation of eyelid" ] ], "xref": [ "MSH:D001762", "SNOMEDCT_US:231796003", "SNOMEDCT_US:41446000", "UMLS:C0005741", "UMLS:C0339063" ], "is_a": [ "HP:0000492", "HP:0100533" ], "is_obsolete": "", "replace_id": "" }, "HP:0000499": { "name": [ "abnormal eyelash morphology", "abnormal eyelash morphology" ], "alt_id": [ "HP:0004530" ], "def": "An abnormality of the eyelashes.", "synonym": [ [ "abnormal eyelashes", "abnormal eyelash" ], [ "abnormality of the eyelashes", "abnormality of the eyelash" ], [ "eyelash abnormality", "eyelash abnormality" ] ], "xref": [ "UMLS:C2675111" ], "is_a": [ "HP:0000492", "HP:0001595" ], "is_obsolete": "", "replace_id": "" }, "HP:0000501": { "name": [ "glaucoma", "glaucoma" ], "alt_id": [], "def": "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.", "synonym": [], "xref": [ "MSH:D005901", "SNOMEDCT_US:23986001", "UMLS:C0017601" ], "is_a": [ "HP:0012373" ], "is_obsolete": "", "replace_id": "" }, "HP:0000502": { "name": [ "abnormal conjunctiva morphology", "abnormal conjunctiva morphology" ], "alt_id": [], "def": "An abnormality of the conjunctiva.", "synonym": [], "xref": [ "UMLS:C4025847" ], "is_a": [ "HP:0030669" ], "is_obsolete": "", "replace_id": "" }, "HP:0000503": { "name": [ "tortuosity of conjunctival vessels", "tortuosity of conjunctival vessel" ], "alt_id": [], "def": "The presence of an increased number of twists and turns of the conjunctival blood vessels.", "synonym": [], "xref": [ "UMLS:C1855391" ], "is_a": [ "HP:0008054" ], "is_obsolete": "", "replace_id": "" }, "HP:0000504": { "name": [ "abnormality of vision", "abnormality of vision" ], "alt_id": [], "def": "Abnormality of eyesight (visual perception).", "synonym": [ [ "abnormality of sight", "abnormality of sight" ], [ "abnormality of vision", "abnormality of vision" ], [ "vision issue", "vision issue" ] ], "xref": [ "UMLS:C4025846" ], "is_a": [ "HP:0012373" ], "is_obsolete": "", "replace_id": "" }, "HP:0000505": { "name": [ "visual impairment", "visual impairment" ], "alt_id": [ "HP:0000516", "HP:0000566", "HP:0007758", "HP:0007860", "HP:0007983" ], "def": "Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.", "synonym": [ [ "impaired vision", "impaired vision" ], [ "loss of eyesight", "loss of eyesight" ], [ "poor vision", "poor vision" ], [ "visual impairment", "visual impairment" ] ], "xref": [ "MSH:D014786", "MSH:D015354", "SNOMEDCT_US:246635007", "SNOMEDCT_US:397540003", "SNOMEDCT_US:7973008", "UMLS:C0042798", "UMLS:C3665347" ], "is_a": [ "HP:0000504" ], "is_obsolete": "", "replace_id": "" }, "HP:0000506": { "name": [ "telecanthus", "telecanthus" ], "alt_id": [], "def": "Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.", "synonym": [ [ "corners of eye widely separated", "corner of eye widely separate" ], [ "dystopia canthorum", "dystopia canthorum" ], [ "increased distance between medial canthi", "increase distance between medial canthus" ], [ "increased intercanthal distance", "increase intercanthal distance" ] ], "xref": [ "MSH:C562941", "SNOMEDCT_US:246803005", "UMLS:C0423113" ], "is_a": [ "HP:0000492" ], "is_obsolete": "", "replace_id": "" }, "HP:0000508": { "name": [ "ptosis", "ptosis" ], "alt_id": [], "def": "The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).", "synonym": [ [ "blepharoptosis", "blepharoptosis" ], [ "drooping upper eyelid", "droop upper eyelid" ], [ "eye drop", "eye drop" ], [ "eyelid ptosis", "eyelid ptosis" ] ], "xref": [ "MSH:D001763", "SNOMEDCT_US:11934000", "UMLS:C0005745" ], "is_a": [ "HP:0012373" ], "is_obsolete": "", "replace_id": "" }, "HP:0000509": { "name": [ "conjunctivitis", "conjunctivitis" ], "alt_id": [], "def": "Inflammation of the conjunctiva.", "synonym": [ [ "conjunctivitis , recurrent", "conjunctivitis , recurrent" ], [ "pink eye", "pink eye" ] ], "xref": [ "MSH:D003231", "SNOMEDCT_US:9826008", "UMLS:C0009763", "UMLS:C1864156" ], "is_a": [ "HP:0000502", "HP:0025337", "HP:0100533" ], "is_obsolete": "", "replace_id": "" }, "HP:0000510": { "name": [ "rod - cone dystrophy", "rod - cone dystrophy" ], "alt_id": [ "HP:0000547", "HP:0001127", "HP:0007635", "HP:0007645", "HP:0007742", "HP:0007816", "HP:0007826", "HP:0007927", "HP:0008036" ], "def": "An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.", "synonym": [ [ "retinitis pigmentosa", "retinitis pigmentosa" ], [ "rod cone dystrophy", "rod cone dystrophy" ] ], "xref": [ "MSH:D012174", "SNOMEDCT_US:28835009", "UMLS:C0035334" ], "is_a": [ "HP:0000556" ], "is_obsolete": "", "replace_id": "" }, "HP:0000511": { "name": [ "vertical supranuclear gaze palsy", "vertical supranuclear gaze palsy" ], "alt_id": [], "def": "A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.", "synonym": [ [ "vertical gaze palsy", "vertical gaze palsy" ] ], "xref": [ "SNOMEDCT_US:246773002", "UMLS:C0339652", "UMLS:C1843369" ], "is_a": [ "HP:0000605" ], "is_obsolete": "", "replace_id": "" }, "HP:0000512": { "name": [ "abnormal electroretinogram", "abnormal electroretinogram" ], "alt_id": [ "HP:0003285" ], "def": "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.", "synonym": [ [ "abnormal electroretinography", "abnormal electroretinography" ], [ "abnormal erg", "abnormal erg" ], [ "erg abnormal", "erg abnormal" ] ], "xref": [ "SNOMEDCT_US:274524001", "UMLS:C0476397" ], "is_a": [ "HP:0030453" ], "is_obsolete": "", "replace_id": "" }, "HP:0000514": { "name": [ "slow saccadic eye movements", "slow saccadic eye movement" ], "alt_id": [], "def": "An abnormally slow velocity of the saccadic eye movements.", "synonym": [ [ "slow eye movements", "slow eye movement" ], [ "slow saccades", "slow saccade" ], [ "slow visual tracking", "slow visual tracking" ] ], "xref": [ "SNOMEDCT_US:404686001", "UMLS:C1321329" ], "is_a": [ "HP:0000570" ], "is_obsolete": "", "replace_id": "" }, "HP:0000517": { "name": [ "abnormality of the lens", "abnormality of the lens" ], "alt_id": [], "def": "An abnormality of the lens.", "synonym": [ [ "abnormality of the lens", "abnormality of the lens" ], [ "lens disease", "lens disease" ], [ "lens issue", "lens issue" ] ], "xref": [ "MSH:D007905", "SNOMEDCT_US:10810001", "UMLS:C0023308", "UMLS:C0549651" ], "is_a": [ "HP:0004328" ], "is_obsolete": "", "replace_id": "" }, "HP:0000518": { "name": [ "cataract", "cataract" ], "alt_id": [ "HP:0001113", "HP:0007825", "HP:0010700" ], "def": "A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.", "synonym": [ [ "cataracts", "cataract" ], [ "clouding of the lens of the eye", "clouding of the lens of the eye" ], [ "cloudy lens", "cloudy lens" ], [ "lens opacities", "lens opacity" ], [ "lens opacity", "lens opacity" ] ], "xref": [ "Fyler:4865", "MSH:D002386", "SNOMEDCT_US:128306009", "SNOMEDCT_US:193570009", "SNOMEDCT_US:247053007", "UMLS:C0086543", "UMLS:C1510497" ], "is_a": [ "HP:0000517" ], "is_obsolete": "", "replace_id": "" }, "HP:0000519": { "name": [ "developmental cataract", "developmental cataract" ], "alt_id": [ "HP:0001108", "HP:0007679", "HP:0007692", "HP:0007726", "HP:0007788" ], "def": "A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.", "synonym": [ [ "bilateral congenital cataracts", "bilateral congenital cataract" ], [ "cataract , congenital", "cataract , congenital" ], [ "clouding of the lens of the eye at birth", "clouding of the lens of the eye at birth" ], [ "congenital cataract", "congenital cataract" ], [ "congenital cataracts", "congenital cataract" ], [ "congenital cataracts , bilateral", "congenital cataract , bilateral" ] ], "xref": [ "SNOMEDCT_US:609587005", "SNOMEDCT_US:79410001", "UMLS:C0009691", "UMLS:C3277059" ], "is_a": [ "HP:0000518", "HP:0007700" ], "is_obsolete": "", "replace_id": "" }, "HP:0000520": { "name": [ "proptosis", "proptosis" ], "alt_id": [ "HP:0000536", "HP:0000644", "HP:0000645", "HP:0007711", "HP:0007870" ], "def": "An eye that is protruding anterior to the plane of the face to a greater extent than is typical.", "synonym": [ [ "anterior bulging of the globe", "anterior bulging of the globe" ], [ "anterior bulging of the globe of eye", "anterior bulging of the globe of eye" ], [ "bulging eye", "bulge eye" ], [ "exophthalmos", "exophthalmos" ], [ "eyeballs bulging out", "eyeball bulge out" ], [ "ocular proptosis", "ocular proptosis" ], [ "prominent eyes", "prominent eye" ], [ "prominent globes", "prominent globe" ], [ "protruding eyes", "protrude eye" ], [ "protrusio bulbi", "protrusio bulbi" ] ], "xref": [ "MSH:D005094", "SNOMEDCT_US:18265008", "UMLS:C0015300", "UMLS:C1837760", "UMLS:C1848490", "UMLS:C1862425" ], "is_a": [ "HP:0100886" ], "is_obsolete": "", "replace_id": "" }, "HP:0000522": { "name": [ "alacrima", "alacrima" ], "alt_id": [], "def": "Absence of tear secretion.", "synonym": [ [ "absence of tears in the eyes", "absence of tear in the eye" ], [ "absent lacrimal fluids", "absent lacrimal fluid" ], [ "absent tear secretion", "absent tear secretion" ] ], "xref": [ "MSH:C562827", "SNOMEDCT_US:253215004", "UMLS:C0344505" ], "is_a": [ "HP:0000633" ], "is_obsolete": "", "replace_id": "" }, "HP:0000523": { "name": [ "subcapsular cataract", "subcapsular cataract" ], "alt_id": [ "HP:0001490", "HP:0007978" ], "def": "A cataract that affects the region of the lens directly beneath the capsule of the lens.", "synonym": [ [ "subcapsular cataracts", "subcapsular cataract" ], [ "subcapsular lenticular cataracts", "subcapsular lenticular cataract" ], [ "subcapsular opacities", "subcapsular opacity" ] ], "xref": [ "SNOMEDCT_US:95723009", "UMLS:C0235259" ], "is_a": [ "HP:0000518" ], "is_obsolete": "", "replace_id": "" }, "HP:0000524": { "name": [ "conjunctival telangiectasia", "conjunctival telangiectasia" ], "alt_id": [], "def": "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.", "synonym": [ [ "conjunctival telangiectases", "conjunctival telangiectases" ], [ "small dilated blood vessels near membrane covering front of eye and eyelids", "small dilate blood vessel near membrane cover front of eye and eyelid" ], [ "telangiectasia , conjunctival", "telangiectasia , conjunctival" ] ], "xref": [ "SNOMEDCT_US:231870008", "UMLS:C0239105" ], "is_a": [ "HP:0008054", "HP:0100579" ], "is_obsolete": "", "replace_id": "" }, "HP:0000525": { "name": [ "abnormality iris morphology", "abnormality iris morphology" ], "alt_id": [], "def": "An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.", "synonym": [ [ "abnormality of the iris", "abnormality of the iris" ] ], "xref": [ "UMLS:C4025845" ], "is_a": [ "HP:0000553", "HP:0004328" ], "is_obsolete": "", "replace_id": "" }, "HP:0000526": { "name": [ "aniridia", "aniridia" ], "alt_id": [ "HP:0011498" ], "def": "Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.", "synonym": [ [ "absent iris", "absent iris" ] ], "xref": [ "MSH:D015783", "SNOMEDCT_US:69278003", "UMLS:C0003076" ], "is_a": [ "HP:0008053" ], "is_obsolete": "", "replace_id": "" }, "HP:0000527": { "name": [ "long eyelashes", "long eyelash" ], "alt_id": [ "HP:0000500" ], "def": "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).", "synonym": [ [ "ciliary trichomegaly", "ciliary trichomegaly" ], [ "eyelash trichomegaly", "eyelash trichomegaly" ], [ "increased length of eyelashes", "increased length of eyelash" ], [ "long eyelashes", "long eyelash" ], [ "unusually long eyelashes", "unusually long eyelash" ] ], "xref": [ "UMLS:C1853738" ], "is_a": [ "HP:0000499" ], "is_obsolete": "", "replace_id": "" }, "HP:0000528": { "name": [ "anophthalmia", "anophthalmia" ], "alt_id": [ "HP:0001485", "HP:0007664" ], "def": "Absence of the globe or eyeball.", "synonym": [ [ "absence of eyeballs", "absence of eyeball" ], [ "absence of globes of eyes", "absence of globe of eye" ], [ "anophthalmia , clinical", "anophthalmia , clinical" ], [ "clinical anophthalmia , unilateral / bilateral", "clinical anophthalmia , unilateral / bilateral" ], [ "failure of development of eyeball", "failure of development of eyeball" ], [ "missing eyeball", "miss eyeball" ], [ "missing globe of eye", "miss globe of eye" ], [ "no eyeball", "no eyeball" ], [ "no globe of eye", "no globe of eye" ], [ "ocular absence", "ocular absence" ] ], "xref": [ "Fyler:4864", "MSH:D000853", "SNOMEDCT_US:204099004", "SNOMEDCT_US:7183006", "UMLS:C0003119" ], "is_a": [ "HP:0008056", "HP:0100887" ], "is_obsolete": "", "replace_id": "" }, "HP:0000529": { "name": [ "progressive visual loss", "progressive visual loss" ], "alt_id": [ "HP:0000560", "HP:0007735", "HP:0007753", "HP:0007967" ], "def": "A reduction of previously attained ability to see.", "synonym": [ [ "decreased visual acuity , progressive", "decrease visual acuity , progressive" ], [ "loss of visual acuity", "loss of visual acuity" ], [ "progressive loss of vision", "progressive loss of vision" ], [ "progressive vision loss", "progressive vision loss" ], [ "progressive visual acuity loss", "progressive visual acuity loss" ], [ "progressive visual impairment", "progressive visual impairment" ], [ "slowly progressive visual loss", "slowly progressive visual loss" ], [ "vision loss , progressive", "vision loss , progressive" ], [ "visual loss , progressive", "visual loss , progressive" ] ], "xref": [ "UMLS:C1839364", "UMLS:C3277697" ], "is_a": [ "HP:0000572" ], "is_obsolete": "", "replace_id": "" }, "HP:0000531": { "name": [ "corneal crystals", "corneal crystal" ], "alt_id": [], "def": "", "synonym": [ [ "corneal deposits", "corneal deposit" ] ], "xref": [ "UMLS:C1096610" ], "is_a": [ "HP:0007759" ], "is_obsolete": "", "replace_id": "" }, "HP:0000532": { "name": [ "abnormal chorioretinal morphology", "abnormal chorioretinal morphology" ], "alt_id": [ "HP:0001145", "HP:0007888" ], "def": "An abnormality of the choroid and retina.", "synonym": [ [ "chorioretinal abnormality", "chorioretinal abnormality" ] ], "xref": [ "UMLS:C4025844" ], "is_a": [ "HP:0000479", "HP:0000610" ], "is_obsolete": "", "replace_id": "" }, "HP:0000533": { "name": [ "chorioretinal atrophy", "chorioretinal atrophy" ], "alt_id": [ "HP:0001150", "HP:0007884", "HP:0007918", "HP:0007931" ], "def": "Atrophy of the choroid and retinal layers of the fundus.", "synonym": [ [ "chorioretinal thinning", "chorioretinal thinning" ] ], "xref": [ "SNOMEDCT_US:95686007", "UMLS:C4048273" ], "is_a": [ "HP:0200065" ], "is_obsolete": "", "replace_id": "" }, "HP:0000534": { "name": [ "abnormal eyebrow morphology", "abnormal eyebrow morphology" ], "alt_id": [], "def": "An abnormality of the eyebrow.", "synonym": [ [ "abnormality of the eyebrow", "abnormality of the eyebrow" ] ], "xref": [ "UMLS:C4011556" ], "is_a": [ "HP:0001595", "HP:0030669" ], "is_obsolete": "", "replace_id": "" }, "HP:0000535": { "name": [ "sparse and thin eyebrow", "sparse and thin eyebrow" ], "alt_id": [ "HP:0002222", "HP:0002554", "HP:0004520", "HP:0004551" ], "def": "Decreased density/number and/or decreased diameter of eyebrow hairs.", "synonym": [ [ "sparse and thin eyebrow", "sparse and thin eyebrow" ], [ "thin , sparse eyebrows", "thin , sparse eyebrow" ] ], "xref": [ "UMLS:C1832446" ], "is_a": [ "HP:0045074", "HP:0045075" ], "is_obsolete": "", "replace_id": "" }, "HP:0000537": { "name": [ "epicanthus inversus", "epicanthus inversus" ], "alt_id": [], "def": "A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.", "synonym": [], "xref": [ "SNOMEDCT_US:400956000", "UMLS:C1303003" ], "is_a": [ "HP:0000286" ], "is_obsolete": "", "replace_id": "" }, "HP:0000538": { "name": [ "pseudopapilledema", "pseudopapilledema" ], "alt_id": [], "def": "Apparent optic disc swelling in the absence of increased intracranial pressure.", "synonym": [], "xref": [ "MSH:C562401", "SNOMEDCT_US:57138009", "UMLS:C0155300" ], "is_a": [ "HP:0012795" ], "is_obsolete": "", "replace_id": "" }, "HP:0000539": { "name": [ "abnormality of refraction", "abnormality of refraction" ], "alt_id": [], "def": "An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.", "synonym": [], "xref": [ "UMLS:C4025843" ], "is_a": [ "HP:0012373" ], "is_obsolete": "", "replace_id": "" }, "HP:0000540": { "name": [ "hypermetropia", "hypermetropia" ], "alt_id": [], "def": "An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.", "synonym": [ [ "farsightedness", "farsightedness" ], [ "hyperopia", "hyperopia" ], [ "long - sightedness", "long - sightedness" ] ], "xref": [ "MSH:D006956", "SNOMEDCT_US:38101003", "UMLS:C0020490" ], "is_a": [ "HP:0000539" ], "is_obsolete": "", "replace_id": "" }, "HP:0000541": { "name": [ "retinal detachment", "retinal detachment" ], "alt_id": [ "HP:0007864", "HP:0008021" ], "def": "Separation of the inner layers of the retina (neural retina) from the pigment epithelium.", "synonym": [ [ "detached retina", "detach retina" ], [ "retinal detachment", "retinal detachment" ] ], "xref": [ "MSH:D012163", "SNOMEDCT_US:42059000", "UMLS:C0035305" ], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0000542": { "name": [ "impaired ocular adduction", "impaired ocular adduction" ], "alt_id": [], "def": "Reduced ability to move the eye in the direction of the nose.", "synonym": [], "xref": [ "UMLS:C1846463" ], "is_a": [ "HP:0000496" ], "is_obsolete": "", "replace_id": "" }, "HP:0000543": { "name": [ "optic disc pallor", "optic disc pallor" ], "alt_id": [ "HP:0001148", "HP:0001484" ], "def": "A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.", "synonym": [ [ "disc pallor", "disc pallor" ], [ "optic disc pallor", "optic disc pallor" ], [ "optic disk pallor", "optic disk pallor" ], [ "pale optic disc", "pale optic disc" ], [ "pale optic discs", "pale optic disc" ], [ "pale optic disk", "pale optic disk" ] ], "xref": [ "SNOMEDCT_US:302200001", "UMLS:C0554970" ], "is_a": [ "HP:0012795" ], "is_obsolete": "", "replace_id": "" }, "HP:0000544": { "name": [ "external ophthalmoplegia", "external ophthalmoplegia" ], "alt_id": [ "HP:0007762" ], "def": "Paralysis of the external ocular muscles.", "synonym": [ [ "chronic progressive external ophthalmoplegia", "chronic progressive external ophthalmoplegia" ], [ "ophthalmoplegia externa", "ophthalmoplegia externa" ], [ "paralysis or weakness of muscles within or surrounding outer part of eye", "paralysis or weakness of muscle within or surround out part of eye" ], [ "progressive paralysis or weakness of muscles of eye motility", "progressive paralysis or weakness of muscle of eye motility" ], [ "progressive paralysis or weakness of muscles of eye movement", "progressive paralysis or weakness of muscle of eye movement" ] ], "xref": [ "MSH:D009886", "MSH:D017246", "SNOMEDCT_US:19373007", "SNOMEDCT_US:46252003", "UMLS:C0162292", "UMLS:C0162674" ], "is_a": [ "HP:0000602" ], "is_obsolete": "", "replace_id": "" }, "HP:0000545": { "name": [ "myopia", "myopia" ], "alt_id": [ "HP:0001110", "HP:0007847", "HP:0008012" ], "def": "An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.", "synonym": [ [ "close sighted", "close sight" ], [ "near sighted", "near sight" ], [ "near sightedness", "near sightedness" ], [ "nearsightedness", "nearsightedness" ] ], "xref": [ "MSH:D009216", "SNOMEDCT_US:57190000", "UMLS:C0027092" ], "is_a": [ "HP:0000539" ], "is_obsolete": "", "replace_id": "" }, "HP:0000546": { "name": [ "retinal degeneration", "retinal degeneration" ], "alt_id": [ "HP:0007632", "HP:0007790", "HP:0007863", "HP:0007893" ], "def": "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.", "synonym": [ [ "retina degeneration", "retina degeneration" ] ], "xref": [ "MSH:D012162", "SNOMEDCT_US:95695004", "UMLS:C0035304" ], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0000547": { "name": [ "obsolete tapetoretinal degeneration", "obsolete tapetoretinal degeneration" ], "alt_id": [], "def": "", "synonym": [ [ "retinotapetal degeneration", "retinotapetal degeneration" ] ], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000510" }, "HP:0000548": { "name": [ "cone / cone - rod dystrophy", "cone / cone - rod dystrophy" ], "alt_id": [ "HP:0008157" ], "def": "", "synonym": [ [ "cone rod dystrophy", "cone rod dystrophy" ], [ "cone - rod retinal dystrophy", "cone - rod retinal dystrophy" ] ], "xref": [ "MSH:D012174" ], "is_a": [ "HP:0000556" ], "is_obsolete": "", "replace_id": "" }, "HP:0000549": { "name": [ "abnormal conjugate eye movement", "abnormal conjugate eye movement" ], "alt_id": [], "def": "Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.", "synonym": [ [ "disconjugate eye movements", "disconjugate eye movement" ] ], "xref": [ "UMLS:C1845274" ], "is_a": [ "HP:0000496" ], "is_obsolete": "", "replace_id": "" }, "HP:0000550": { "name": [ "undetectable electroretinogram", "undetectable electroretinogram" ], "alt_id": [ "HP:0008042" ], "def": "Lack of any response to stimulation upon electroretinography.", "synonym": [ [ "abolished electroretinogram", "abolish electroretinogram" ], [ "absent electroretinogram", "absent electroretinogram" ], [ "extinction of electroretinogram", "extinction of electroretinogram" ], [ "extinguished electroretinogram", "extinguish electroretinogram" ], [ "no light - evoked response on electroretinogram", "no light - evoked response on electroretinogram" ], [ "undetectable erg", "undetectable erg" ] ], "xref": [ "UMLS:C1855685" ], "is_a": [ "HP:0000512" ], "is_obsolete": "", "replace_id": "" }, "HP:0000551": { "name": [ "color vision defect", "color vision defect" ], "alt_id": [], "def": "An anomaly in the ability to discriminate between or recognize colors.", "synonym": [ [ "abnormal color vision", "abnormal color vision" ], [ "abnormal colour vision", "abnormal colour vision" ], [ "abnormality of color vision", "abnormality of color vision" ], [ "abnormality of colour vision", "abnormality of colour vision" ], [ "color vision defect , severe", "color vision defect , severe" ], [ "color vision defects", "color vision defect" ], [ "colour vision defect", "colour vision defect" ], [ "colour vision defect , severe", "colour vision defect , severe" ], [ "colour vision defects", "colour vision defect" ], [ "loss in color vision", "loss in color vision" ], [ "loss in colour vision", "loss in colour vision" ] ], "xref": [ "MSH:D003117", "SNOMEDCT_US:23289000", "SNOMEDCT_US:367469000", "UMLS:C0009398", "UMLS:C0234629", "UMLS:C3552853" ], "is_a": [ "HP:0000504" ], "is_obsolete": "", "replace_id": "" }, "HP:0000552": { "name": [ "tritanomaly", "tritanomaly" ], "alt_id": [], "def": "Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.", "synonym": [ [ "blue yellow color blindness", "blue yellow color blindness" ], [ "blue yellow colour blindness", "blue yellow colour blindness" ], [ "blue - yellow dyschromatopsia", "blue - yellow dyschromatopsia" ], [ "blue / yellow color vision defect", "blue / yellow color vision defect" ], [ "blue / yellow colour vision defect", "blue / yellow colour vision defect" ], [ "dyschromatopsia , blue - yellow", "dyschromatopsia , blue - yellow" ] ], "xref": [ "MSH:D003117", "SNOMEDCT_US:51886007", "SNOMEDCT_US:85049009", "UMLS:C0155017", "UMLS:C1970167" ], "is_a": [ "HP:0011519" ], "is_obsolete": "", "replace_id": "" }, "HP:0000553": { "name": [ "abnormal uvea morphology", "abnormal uvea morphology" ], "alt_id": [], "def": "An abnormality of the uvea, the vascular layer of the eyeball.", "synonym": [ [ "abnormality of the uvea", "abnormality of the uvea" ] ], "xref": [ "UMLS:C4025842" ], "is_a": [ "HP:0012372" ], "is_obsolete": "", "replace_id": "" }, "HP:0000554": { "name": [ "uveitis", "uveitis" ], "alt_id": [], "def": "Inflammation of one or all portions of the uveal tract.", "synonym": [], "xref": [ "MSH:D014605", "SNOMEDCT_US:128473001", "UMLS:C0042164" ], "is_a": [ "HP:0000553", "HP:0100533" ], "is_obsolete": "", "replace_id": "" }, "HP:0000555": { "name": [ "leukocoria", "leukocoria" ], "alt_id": [], "def": "An abnormal white reflection from the pupil rather than the usual black reflection.", "synonym": [ [ "leukokoria", "leukokoria" ], [ "white pupillary reflex", "white pupillary reflex" ] ], "xref": [ "SNOMEDCT_US:1361009", "UMLS:C0152458" ], "is_a": [ "HP:0000615" ], "is_obsolete": "", "replace_id": "" }, "HP:0000556": { "name": [ "retinal dystrophy", "retinal dystrophy" ], "alt_id": [ "HP:0007736", "HP:0007910", "HP:0007974", "HP:0007982" ], "def": "Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.", "synonym": [ [ "breakdown of light - sensitive cells in back of eye", "breakdown of light - sensitive cell in back of eye" ] ], "xref": [ "MSH:D058499", "SNOMEDCT_US:314407005", "UMLS:C0854723" ], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0000557": { "name": [ "buphthalmos", "buphthalmos" ], "alt_id": [], "def": "Diffusely large eye (with megalocornea) associated with glaucoma.", "synonym": [ [ "enlarged eyeball", "enlarge eyeball" ] ], "xref": [ "MSH:D006871", "UMLS:C4551507" ], "is_a": [ "HP:0001087", "HP:0001090" ], "is_obsolete": "", "replace_id": "" }, "HP:0000558": { "name": [ "rieger anomaly", "rieger anomaly" ], "alt_id": [], "def": "A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.", "synonym": [], "xref": [ "MSH:C535679", "SNOMEDCT_US:47507006", "UMLS:C0265341" ], "is_a": [ "HP:0007676" ], "is_obsolete": "", "replace_id": "" }, "HP:0000559": { "name": [ "corneal scarring", "corneal scar" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D065306", "SNOMEDCT_US:95726001", "UMLS:C0349702" ], "is_a": [ "HP:0007957", "HP:0100699" ], "is_obsolete": "", "replace_id": "" }, "HP:0000561": { "name": [ "absent eyelashes", "absent eyelash" ], "alt_id": [ "HP:0002288", "HP:0004516", "HP:0004539", "HP:0007926" ], "def": "Lack of eyelashes.", "synonym": [ [ "absent eyelashes", "absent eyelash" ], [ "agenesis of eyelashes", "agenesis of eyelash" ], [ "aplasia of eyelashes", "aplasia of eyelash" ], [ "atrichia of eyelashes", "atrichia of eyelash" ], [ "failure of development of eyelashes", "failure of development of eyelash" ] ], "xref": [ "UMLS:C1843005", "UMLS:C4280626", "UMLS:C4280627" ], "is_a": [ "HP:0002550", "HP:0200102" ], "is_obsolete": "", "replace_id": "" }, "HP:0000563": { "name": [ "keratoconus", "keratoconus" ], "alt_id": [], "def": "A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.", "synonym": [ [ "bulging cornea", "bulge cornea" ], [ "conical cornea", "conical cornea" ] ], "xref": [ "MSH:D007640", "SNOMEDCT_US:65636009", "UMLS:C0022578" ], "is_a": [ "HP:0100689", "HP:0100692" ], "is_obsolete": "", "replace_id": "" }, "HP:0000564": { "name": [ "lacrimal duct atresia", "lacrimal duct atresia" ], "alt_id": [ "HP:0007729" ], "def": "A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.", "synonym": [ [ "imperforate nasolacrimal ducts", "imperforate nasolacrimal duct" ], [ "nasolacrimal duct atresia", "nasolacrimal duct atresia" ], [ "unopened tear duct", "unopened tear duct" ] ], "xref": [ "SNOMEDCT_US:278530008", "UMLS:C0344511" ], "is_a": [ "HP:0011481" ], "is_obsolete": "", "replace_id": "" }, "HP:0000565": { "name": [ "esotropia", "esotropia" ], "alt_id": [], "def": "A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.", "synonym": [ [ "inward turning cross eyed", "inward turn cross eye" ] ], "xref": [ "MSH:D004948", "SNOMEDCT_US:16596007", "UMLS:C0014877" ], "is_a": [ "HP:0020045", "HP:0032012" ], "is_obsolete": "", "replace_id": "" }, "HP:0000567": { "name": [ "chorioretinal coloboma", "chorioretinal coloboma" ], "alt_id": [ "HP:0000611", "HP:0007718", "HP:0007784", "HP:0007956" ], "def": "Absence of a region of the retina, retinal pigment epithelium, and choroid.", "synonym": [ [ "birth defect that causes a hole in the innermost layer at the back of the eye", "birth defect that cause a hole in the innermost layer at the back of the eye" ], [ "choroid coloboma", "choroid coloboma" ], [ "choroidal coloboma", "choroidal coloboma" ], [ "choroidoretinal coloboma", "choroidoretinal coloboma" ], [ "coloboma of choroid", "coloboma of choroid" ] ], "xref": [ "SNOMEDCT_US:39302008", "UMLS:C0240896" ], "is_a": [ "HP:0000532", "HP:0000589" ], "is_obsolete": "", "replace_id": "" }, "HP:0000568": { "name": [ "microphthalmia", "microphthalmia" ], "alt_id": [ "HP:0007996" ], "def": "A developmental anomaly characterized by abnormal smallness of one or both eyes.", "synonym": [ [ "abnormally small eyeball", "abnormally small eyeball" ], [ "abnormally small globe of eye", "abnormally small globe of eye" ], [ "decreased size of eyeball", "decreased size of eyeball" ], [ "decreased size of globe of eye", "decreased size of globe of eye" ], [ "microphthalmos", "microphthalmos" ], [ "nanophthalmos", "nanophthalmos" ] ], "xref": [ "Fyler:4877", "MSH:D008850", "SNOMEDCT_US:204108000", "SNOMEDCT_US:61142002", "UMLS:C0026010", "UMLS:C4280625", "UMLS:C4280808" ], "is_a": [ "HP:0008056", "HP:0100887" ], "is_obsolete": "", "replace_id": "" }, "HP:0000570": { "name": [ "abnormal saccadic eye movements", "abnormal saccadic eye movement" ], "alt_id": [ "HP:0000604" ], "def": "An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.", "synonym": [ [ "abnormality of saccadic eye movements", "abnormality of saccadic eye movement" ], [ "impaired saccades", "impaired saccade" ] ], "xref": [ "UMLS:C1842584", "UMLS:C4025841" ], "is_a": [ "HP:0000496" ], "is_obsolete": "", "replace_id": "" }, "HP:0000571": { "name": [ "hypometric saccades", "hypometric saccade" ], "alt_id": [], "def": "Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.", "synonym": [], "xref": [ "SNOMEDCT_US:246768008", "UMLS:C0423082" ], "is_a": [ "HP:0000570" ], "is_obsolete": "", "replace_id": "" }, "HP:0000572": { "name": [ "visual loss", "visual loss" ], "alt_id": [], "def": "Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).", "synonym": [ [ "loss of vision", "loss of vision" ], [ "vision loss", "vision loss" ], [ "visual loss", "visual loss" ] ], "xref": [ "SNOMEDCT_US:7973008", "UMLS:C3665386" ], "is_a": [ "HP:0000505" ], "is_obsolete": "", "replace_id": "" }, "HP:0000573": { "name": [ "retinal hemorrhage", "retinal hemorrhage" ], "alt_id": [], "def": "Hemorrhage occurring within the retina.", "synonym": [ [ "retinal bleeding", "retinal bleeding" ], [ "retinal haemorrhage", "retinal haemorrhage" ], [ "retinal haemorrhages", "retinal haemorrhage" ], [ "retinal hemorrhages", "retinal hemorrhage" ] ], "xref": [ "MSH:D012166", "SNOMEDCT_US:28998008", "UMLS:C0035317" ], "is_a": [ "HP:0000479", "HP:0011885", "HP:0031803" ], "is_obsolete": "", "replace_id": "" }, "HP:0000574": { "name": [ "thick eyebrow", "thick eyebrow" ], "alt_id": [ "HP:0004546" ], "def": "Increased density/number and/or increased diameter of eyebrow hairs.", "synonym": [ [ "bushy eyebrows", "bushy eyebrow" ], [ "dense eyebrow", "dense eyebrow" ], [ "heavy eyebrows", "heavy eyebrow" ], [ "hypertrichosis of the eyebrow", "hypertrichosis of the eyebrow" ], [ "hypertrichosis of the eyebrows", "hypertrichosis of the eyebrow" ], [ "prominent eyebrows", "prominent eyebrow" ], [ "thick eyebrow", "thick eyebrow" ], [ "thick eyebrows", "thick eyebrow" ] ], "xref": [ "UMLS:C1853487" ], "is_a": [ "HP:0000534" ], "is_obsolete": "", "replace_id": "" }, "HP:0000575": { "name": [ "scotoma", "scotoma" ], "alt_id": [], "def": "A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.", "synonym": [ [ "blind spot", "blind spot" ] ], "xref": [ "MSH:D009898", "MSH:D012607", "SNOMEDCT_US:23388006", "SNOMEDCT_US:81016008", "UMLS:C0036454", "UMLS:C0344233" ], "is_a": [ "HP:0001123" ], "is_obsolete": "", "replace_id": "" }, "HP:0000576": { "name": [ "centrocecal scotoma", "centrocecal scotoma" ], "alt_id": [], "def": "A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.", "synonym": [], "xref": [ "MSH:D012607", "SNOMEDCT_US:33014001", "UMLS:C0271196" ], "is_a": [ "HP:0000575" ], "is_obsolete": "", "replace_id": "" }, "HP:0000577": { "name": [ "exotropia", "exotropia" ], "alt_id": [ "HP:0008033" ], "def": "A form of strabismus with one or both eyes deviated outward.", "synonym": [ [ "outward facing eye ball", "outward face eye ball" ] ], "xref": [ "MSH:D005099", "SNOMEDCT_US:399054005", "SNOMEDCT_US:399252000", "UMLS:C0015310" ], "is_a": [ "HP:0020049", "HP:0032012" ], "is_obsolete": "", "replace_id": "" }, "HP:0000579": { "name": [ "nasolacrimal duct obstruction", "nasolacrimal duct obstruction" ], "alt_id": [], "def": "Blockage of the lacrimal duct.", "synonym": [ [ "blocked tear duct", "block tear duct" ], [ "lacrimal duct obstruction", "lacrimal duct obstruction" ] ], "xref": [ "MSH:D007767", "SNOMEDCT_US:231841004", "SNOMEDCT_US:246865000", "SNOMEDCT_US:314022009", "SNOMEDCT_US:416920000", "UMLS:C0022906", "UMLS:C1281931" ], "is_a": [ "HP:0011481" ], "is_obsolete": "", "replace_id": "" }, "HP:0000580": { "name": [ "pigmentary retinopathy", "pigmentary retinopathy" ], "alt_id": [ "HP:0001146", "HP:0007702", "HP:0007821", "HP:0007852", "HP:0007869", "HP:0007934", "HP:0007961", "HP:0008010" ], "def": "An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.", "synonym": [ [ "pigmentary retinal deposits", "pigmentary retinal deposit" ], [ "retinal pigment clumping", "retinal pigment clump" ], [ "retinal pigmentary clumping", "retinal pigmentary clumping" ], [ "retinal pigmentary degeneration", "retinal pigmentary degeneration" ] ], "xref": [ "MSH:D012174", "SNOMEDCT_US:28835009", "UMLS:C0035334" ], "is_a": [ "HP:0007703" ], "is_obsolete": "", "replace_id": "" }, "HP:0000581": { "name": [ "blepharophimosis", "blepharophimosis" ], "alt_id": [ "HP:0000507", "HP:0000513" ], "def": "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.", "synonym": [ [ "decreased width of palpebral fissure", "decrease width of palpebral fissure" ], [ "narrow opening between the eyelids", "narrow opening between the eyelid" ] ], "xref": [ "MSH:D016569", "UMLS:C0005744" ], "is_a": [ "HP:0200007" ], "is_obsolete": "", "replace_id": "" }, "HP:0000582": { "name": [ "upslanted palpebral fissure", "upslanted palpebral fissure" ], "alt_id": [], "def": "The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.", "synonym": [ [ "mongoloid slant", "mongoloid slant" ], [ "upslanted palpebral fissures", "upslanted palpebral fissure" ], [ "upslanting palpebral fissures", "upslanting palpebral fissure" ], [ "upward slanted palpebral fissures", "upward slant palpebral fissure" ], [ "upward slanting of palpebral fissures", "upward slanting of palpebral fissure" ], [ "upward slanting of the opening between the eyelids", "upward slanting of the opening between the eyelid" ], [ "upward slanting palpebral fissures", "upward slant palpebral fissure" ] ], "xref": [ "SNOMEDCT_US:246799009", "UMLS:C0423109" ], "is_a": [ "HP:0200006" ], "is_obsolete": "", "replace_id": "" }, "HP:0000584": { "name": [ "punctate corneal epithelial erosions", "punctate corneal epithelial erosion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1832170" ], "is_a": [ "HP:0200020" ], "is_obsolete": "", "replace_id": "" }, "HP:0000585": { "name": [ "band keratopathy", "band keratopathy" ], "alt_id": [], "def": "An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.", "synonym": [ [ "calcific band keratopathy", "calcific band keratopathy" ] ], "xref": [ "MSH:C562399", "SNOMEDCT_US:35055000", "UMLS:C0155120" ], "is_a": [ "HP:0011493" ], "is_obsolete": "", "replace_id": "" }, "HP:0000586": { "name": [ "shallow orbits", "shallow orbit" ], "alt_id": [ "HP:0002706" ], "def": "Reduced depth of the orbits associated with prominent-appearing ocular globes.", "synonym": [ [ "decreased depth of eye sockets", "decrease depth of eye socket" ], [ "decreased depth of orbits", "decrease depth of orbit" ], [ "shallow eye sockets", "shallow eye socket" ], [ "small shallow orbits", "small shallow orbit" ] ], "xref": [ "UMLS:C1865244" ], "is_a": [ "HP:0000520", "HP:3000030" ], "is_obsolete": "", "replace_id": "" }, "HP:0000587": { "name": [ "abnormality of the optic nerve", "abnormality of the optic nerve" ], "alt_id": [], "def": "Abnormality of the optic nerve.", "synonym": [ [ "optic nerve abnormalities", "optic nerve abnormality" ], [ "optic nerve issue", "optic nerve issue" ] ], "xref": [ "UMLS:C0029131" ], "is_a": [ "HP:0001098" ], "is_obsolete": "", "replace_id": "" }, "HP:0000588": { "name": [ "optic disc coloboma", "optic disc coloboma" ], "alt_id": [ "HP:0007997" ], "def": "A cleft of the optic nerve that extends inferiorly.", "synonym": [ [ "coloboma of optic nerve", "coloboma of optic nerve" ], [ "optic disk coloboma", "optic disk coloboma" ], [ "optic nerve coloboma", "optic nerve coloboma" ] ], "xref": [ "MSH:C535970", "SNOMEDCT_US:17541006", "SNOMEDCT_US:44295002", "UMLS:C0155299" ], "is_a": [ "HP:0000589", "HP:0012795" ], "is_obsolete": "", "replace_id": "" }, "HP:0000589": { "name": [ "coloboma", "coloboma" ], "alt_id": [ "HP:0007767", "HP:0007995" ], "def": "A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.", "synonym": [ [ "notched pupil", "notch pupil" ], [ "ocular coloboma", "ocular coloboma" ], [ "ocular colobomas", "ocular colobomas" ] ], "xref": [ "Fyler:4311", "MSH:D003103", "SNOMEDCT_US:92828000", "SNOMEDCT_US:93390002", "UMLS:C0009363" ], "is_a": [ "HP:0012372" ], "is_obsolete": "", "replace_id": "" }, "HP:0000590": { "name": [ "progressive external ophthalmoplegia", "progressive external ophthalmoplegia" ], "alt_id": [ "HP:0000562" ], "def": "Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.", "synonym": [ [ "external ophthalmoplegia , progressive", "external ophthalmoplegia , progressive" ] ], "xref": [ "MSH:D017246", "SNOMEDCT_US:46252003", "UMLS:C0162674" ], "is_a": [ "HP:0000544" ], "is_obsolete": "", "replace_id": "" }, "HP:0000591": { "name": [ "abnormal sclera morphology", "abnormal sclera morphology" ], "alt_id": [], "def": "An abnormality of the sclera.", "synonym": [ [ "abnormality of the outer white part of eyeball", "abnormality of the outer white part of eyeball" ], [ "abnormality of the sclera", "abnormality of the sclera" ] ], "xref": [ "UMLS:C4025840" ], "is_a": [ "HP:0012372" ], "is_obsolete": "", "replace_id": "" }, "HP:0000592": { "name": [ "blue sclerae", "blue sclerae" ], "alt_id": [], "def": "An abnormal bluish coloration of the sclera.", "synonym": [ [ "blue outer white part of eyeball", "blue out white part of eyeball" ], [ "blue sclera", "blue sclera" ], [ "bluish sclerae", "bluish sclerae" ], [ "whites of eyes are a bluish - gray color", "white of eye be a bluish - gray color" ], [ "whites of eyes are a bluish - gray colour", "white of eye be a bluish - gray colour" ] ], "xref": [ "SNOMEDCT_US:204164000", "UMLS:C0542514" ], "is_a": [ "HP:0000591" ], "is_obsolete": "", "replace_id": "" }, "HP:0000593": { "name": [ "abnormal anterior chamber morphology", "abnormal anterior chamber morphology" ], "alt_id": [], "def": "Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.", "synonym": [ [ "abnormality of the anterior chamber", "abnormality of the anterior chamber" ], [ "anterior chamber anomalies", "anterior chamber anomaly" ], [ "ocular anterior chamber abnormality", "ocular anterior chamber abnormality" ] ], "xref": [ "SNOMEDCT_US:204142009", "UMLS:C3152182" ], "is_a": [ "HP:0004328" ], "is_obsolete": "", "replace_id": "" }, "HP:0000594": { "name": [ "shallow anterior chamber", "shallow anterior chamber" ], "alt_id": [ "HP:0007756" ], "def": "Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.", "synonym": [], "xref": [ "SNOMEDCT_US:246986004", "UMLS:C0423276" ], "is_a": [ "HP:0000593" ], "is_obsolete": "", "replace_id": "" }, "HP:0000597": { "name": [ "ophthalmoparesis", "ophthalmoparesis" ], "alt_id": [ "HP:0007701", "HP:0008044" ], "def": "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.", "synonym": [ [ "extraocular muscle palsy", "extraocular muscle palsy" ], [ "extraocular muscle paralysis", "extraocular muscle paralysis" ], [ "weakness of extraocular eye movement", "weakness of extraocular eye movement" ], [ "weakness of muscles controlling eye movement", "weakness of muscle control eye movement" ] ], "xref": [ "MSH:D009886", "UMLS:C0751401" ], "is_a": [ "HP:0000496" ], "is_obsolete": "", "replace_id": "" }, "HP:0000598": { "name": [ "abnormality of the ear", "abnormality of the ear" ], "alt_id": [], "def": "An abnormality of the ear.", "synonym": [ [ "abnormality of the ear", "abnormality of the ear" ], [ "ear anomaly", "ear anomaly" ] ], "xref": [ "SNOMEDCT_US:275259005", "UMLS:C0266589" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0000599": { "name": [ "abnormality of the frontal hairline", "abnormality of the frontal hairline" ], "alt_id": [], "def": "An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.", "synonym": [ [ "abnormality of hairline at front of head", "abnormality of hairline at front of head" ], [ "abnormality of the frontal hairline", "abnormality of the frontal hairline" ] ], "xref": [ "UMLS:C4025839" ], "is_a": [ "HP:0000290", "HP:0009553" ], "is_obsolete": "", "replace_id": "" }, "HP:0000600": { "name": [ "abnormality of the pharynx", "abnormality of the pharynx" ], "alt_id": [], "def": "An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.", "synonym": [], "xref": [ "UMLS:C4025838" ], "is_a": [ "HP:0002087" ], "is_obsolete": "", "replace_id": "" }, "HP:0000601": { "name": [ "hypotelorism", "hypotelorism" ], "alt_id": [ "HP:0007877" ], "def": "Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).", "synonym": [ [ "abnormally close eyes", "abnormally close eye" ], [ "closely spaced eyes", "closely spaced eye" ], [ "decreased distance between eye sockets", "decrease distance between eye socket" ], [ "decreased distance between eyes", "decrease distance between eye" ], [ "decreased interpupillary distance", "decrease interpupillary distance" ], [ "decreased orbital separation", "decrease orbital separation" ], [ "ocular hypotelorism", "ocular hypotelorism" ] ], "xref": [ "SNOMEDCT_US:44593008", "UMLS:C0424711" ], "is_a": [ "HP:0100886" ], "is_obsolete": "", "replace_id": "" }, "HP:0000602": { "name": [ "ophthalmoplegia", "ophthalmoplegia" ], "alt_id": [], "def": "Paralysis of one or more extraocular muscles that are responsible for eye movements.", "synonym": [ [ "eye muscle paralysis", "eye muscle paralysis" ], [ "paralysis of extraocular eye movement", "paralysis of extraocular eye movement" ] ], "xref": [ "MSH:D009886", "SNOMEDCT_US:16110005", "UMLS:C0029089" ], "is_a": [ "HP:0000597" ], "is_obsolete": "", "replace_id": "" }, "HP:0000603": { "name": [ "central scotoma", "central scotoma" ], "alt_id": [], "def": "An area of depressed vision located at the point of fixation and that interferes with central vision.", "synonym": [ [ "blind spot located at fixation point", "blind spot locate at fixation point" ], [ "central blind spot", "central blind spot" ], [ "central scotomata", "central scotoma" ] ], "xref": [ "MSH:D012607", "SNOMEDCT_US:38950008", "UMLS:C0152191", "UMLS:C4280624" ], "is_a": [ "HP:0000575" ], "is_obsolete": "", "replace_id": "" }, "HP:0000605": { "name": [ "supranuclear gaze palsy", "supranuclear gaze palsy" ], "alt_id": [], "def": "A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.", "synonym": [ [ "supranuclear gaze paralysis", "supranuclear gaze paralysis" ] ], "xref": [ "SNOMEDCT_US:420675003", "UMLS:C1720037" ], "is_a": [ "HP:0000549" ], "is_obsolete": "", "replace_id": "" }, "HP:0000606": { "name": [ "abnormality of the periorbital region", "abnormality of the periorbital region" ], "alt_id": [], "def": "An abnormality of the region situated around the orbit of the eye.", "synonym": [ [ "abnormality of the region around the eye", "abnormality of the region around the eye" ], [ "abnormality of the region around the eye socket", "abnormality of the region around the eye socket" ], [ "anomaly of the periorbital region", "anomaly of the periorbital region" ], [ "deformity of the periorbital region", "deformity of the periorbital region" ], [ "malformation of the periorbital region", "malformation of the periorbital region" ] ], "xref": [ "UMLS:C4025837" ], "is_a": [ "HP:0000271" ], "is_obsolete": "", "replace_id": "" }, "HP:0000607": { "name": [ "periorbital wrinkles", "periorbital wrinkle" ], "alt_id": [], "def": "", "synonym": [ [ "excess periorbital skin wrinkling", "excess periorbital skin wrinkling" ], [ "periorbital rhytids", "periorbital rhytids" ], [ "periorbital wrinkling", "periorbital wrinkling" ], [ "wrinkles around the eyes", "wrinkle around the eye" ] ], "xref": [ "UMLS:C1844605" ], "is_a": [ "HP:0000606", "HP:0100678" ], "is_obsolete": "", "replace_id": "" }, "HP:0000608": { "name": [ "macular degeneration", "macular degeneration" ], "alt_id": [ "HP:0007694", "HP:0007868" ], "def": "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.", "synonym": [ [ "pigmented macular degeneration", "pigment macular degeneration" ] ], "xref": [ "SNOMEDCT_US:422338006", "UMLS:C0024437" ], "is_a": [ "HP:0000546", "HP:0001103" ], "is_obsolete": "", "replace_id": "" }, "HP:0000609": { "name": [ "optic nerve hypoplasia", "optic nerve hypoplasia" ], "alt_id": [ "HP:0007273" ], "def": "Underdevelopment of the optic nerve.", "synonym": [ [ "hypoplastic optic nerves", "hypoplastic optic nerve" ], [ "underdeveloped optic nerves", "underdeveloped optic nerve" ] ], "xref": [ "SNOMEDCT_US:95499004", "UMLS:C0338502" ], "is_a": [ "HP:0002977", "HP:0008058" ], "is_obsolete": "", "replace_id": "" }, "HP:0000610": { "name": [ "abnormal choroid morphology", "abnormal choroid morphology" ], "alt_id": [ "HP:0001122" ], "def": "Any structural abnormality of the choroid.", "synonym": [ [ "abnormality of the choroid", "abnormality of the choroid" ], [ "choroid disease", "choroid disease" ] ], "xref": [ "MSH:D015862", "UMLS:C0008521", "UMLS:C4025836" ], "is_a": [ "HP:0000553", "HP:0001098" ], "is_obsolete": "", "replace_id": "" }, "HP:0000611": { "name": [ "obsolete choroid coloboma", "obsolete choroid coloboma" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000567" }, "HP:0000612": { "name": [ "iris coloboma", "iris coloboma" ], "alt_id": [ "HP:0007744", "HP:0007748" ], "def": "A coloboma of the iris.", "synonym": [ [ "cat eye", "cat eye" ], [ "coloboma of iris", "coloboma of iris" ], [ "coloboma of the iris", "coloboma of the iris" ], [ "keyhole iris", "keyhole iris" ] ], "xref": [ "UMLS:C0240063" ], "is_a": [ "HP:0000525", "HP:0000589" ], "is_obsolete": "", "replace_id": "" }, "HP:0000613": { "name": [ "photophobia", "photophobia" ], "alt_id": [], "def": "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.", "synonym": [ [ "extreme sensitivity of the eyes to light", "extreme sensitivity of the eye to light" ], [ "light hypersensitivity", "light hypersensitivity" ], [ "photodysphoria", "photodysphoria" ] ], "xref": [ "MSH:D020795", "SNOMEDCT_US:246622003", "SNOMEDCT_US:409668002", "UMLS:C0085636", "UMLS:C4020887" ], "is_a": [ "HP:0000504", "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0000614": { "name": [ "abnormal nasolacrimal system morphology", "abnormal nasolacrimal system morphology" ], "alt_id": [], "def": "An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.", "synonym": [ [ "abnormality of the nasolacrimal system", "abnormality of the nasolacrimal system" ] ], "xref": [ "UMLS:C4025835" ], "is_a": [ "HP:0030669" ], "is_obsolete": "", "replace_id": "" }, "HP:0000615": { "name": [ "abnormal pupil morphology", "abnormal pupil morphology" ], "alt_id": [ "HP:0008018", "HP:0030960" ], "def": "An abnormality of the pupil.", "synonym": [ [ "abnormal pupillary morphology", "abnormal pupillary morphology" ], [ "abnormality of the pupil", "abnormality of the pupil" ], [ "pupillary abnormalities", "pupillary abnormality" ], [ "pupillary abnormality", "pupillary abnormality" ] ], "xref": [ "SNOMEDCT_US:274093008", "UMLS:C0154936" ], "is_a": [ "HP:0000525" ], "is_obsolete": "", "replace_id": "" }, "HP:0000616": { "name": [ "miosis", "miosis" ], "alt_id": [], "def": "Abnormal (non-physiological) constriction of the pupil.", "synonym": [ [ "constricted pupils", "constrict pupil" ], [ "pupillary constriction", "pupillary constriction" ] ], "xref": [ "MSH:D015877", "SNOMEDCT_US:63251006", "UMLS:C0026205" ], "is_a": [ "HP:0007686" ], "is_obsolete": "", "replace_id": "" }, "HP:0000617": { "name": [ "abnormality of ocular smooth pursuit", "abnormality of ocular smooth pursuit" ], "alt_id": [ "HP:0007671", "HP:0008006" ], "def": "An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.", "synonym": [ [ "abnormal smooth pursuits", "abnormal smooth pursuit" ], [ "disrupted ocular pursuit movements", "disrupt ocular pursuit movement" ], [ "impaired smooth pursuit ocular movements", "impaired smooth pursuit ocular movement" ], [ "irregular visual pursuit movements", "irregular visual pursuit movement" ] ], "xref": [ "UMLS:C1836393" ], "is_a": [ "HP:0000496" ], "is_obsolete": "", "replace_id": "" }, "HP:0000618": { "name": [ "blindness", "blindness" ], "alt_id": [ "HP:0007839" ], "def": "Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.", "synonym": [ [ "blindness", "blindness" ], [ "legal blindness", "legal blindness" ], [ "total vision loss", "total vision loss" ] ], "xref": [ "Fyler:4866", "MSH:D001766", "SNOMEDCT_US:65956007", "UMLS:C0271215", "UMLS:C0456909" ], "is_a": [ "HP:0007663" ], "is_obsolete": "", "replace_id": "" }, "HP:0000619": { "name": [ "impaired convergence", "impaired convergence" ], "alt_id": [], "def": "Reduced ability to turn the eyes inward in order to focus on a nearby object.", "synonym": [ [ "convergence insufficiency", "convergence insufficiency" ] ], "xref": [ "MSH:D015835", "SNOMEDCT_US:194131002", "UMLS:C0271379" ], "is_a": [ "HP:0000549" ], "is_obsolete": "", "replace_id": "" }, "HP:0000620": { "name": [ "dacryocystitis", "dacryocystitis" ], "alt_id": [], "def": "Inflammation of the nasolacrimal sac.", "synonym": [ [ "dacrocystitis", "dacrocystitis" ], [ "infection of the lacrimal sac", "infection of the lacrimal sac" ] ], "xref": [ "MSH:D003607", "SNOMEDCT_US:85777005", "UMLS:C0010930" ], "is_a": [ "HP:0000614" ], "is_obsolete": "", "replace_id": "" }, "HP:0000621": { "name": [ "entropion", "entropion" ], "alt_id": [], "def": "An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.", "synonym": [ [ "eyelid folded in", "eyelid fold in" ], [ "eyelid turned in", "eyelid turn in" ], [ "inverted eyelid", "invert eyelid" ] ], "xref": [ "MSH:D004774", "SNOMEDCT_US:33168009", "UMLS:C0014390" ], "is_a": [ "HP:0000492" ], "is_obsolete": "", "replace_id": "" }, "HP:0000622": { "name": [ "blurred vision", "blur vision" ], "alt_id": [ "HP:0007723" ], "def": "Lack of sharpness of vision resulting in the inability to see fine detail.", "synonym": [ [ "blurred vision", "blur vision" ] ], "xref": [ "SNOMEDCT_US:111516008", "SNOMEDCT_US:246636008", "UMLS:C0344232" ], "is_a": [ "HP:0000504" ], "is_obsolete": "", "replace_id": "" }, "HP:0000623": { "name": [ "supranuclear ophthalmoplegia", "supranuclear ophthalmoplegia" ], "alt_id": [], "def": "A vertical gaze palsy with inability to direct the gaze of the eyes downwards.", "synonym": [], "xref": [ "UMLS:C1408507" ], "is_a": [ "HP:0000602" ], "is_obsolete": "", "replace_id": "" }, "HP:0000625": { "name": [ "eyelid coloboma", "eyelid coloboma" ], "alt_id": [], "def": "A short discontinuity of the margin of the lower or upper eyelid.", "synonym": [ [ "cleft eyelid", "cleft eyelid" ], [ "eyelid coloboma", "eyelid coloboma" ], [ "full thickness defect of the eyelid", "full thickness defect of the eyelid" ], [ "notched eyelid", "notch eyelid" ] ], "xref": [ "SNOMEDCT_US:95202004", "UMLS:C0521573" ], "is_a": [ "HP:0011226" ], "is_obsolete": "", "replace_id": "" }, "HP:0000627": { "name": [ "posterior embryotoxon", "posterior embryotoxon" ], "alt_id": [ "HP:0100740" ], "def": "A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.", "synonym": [ [ "embryotoxon", "embryotoxon" ] ], "xref": [ "SNOMEDCT_US:253228006", "SNOMEDCT_US:392437005", "UMLS:C0344531", "UMLS:C0546967" ], "is_a": [ "HP:0008048" ], "is_obsolete": "", "replace_id": "" }, "HP:0000629": { "name": [ "periorbital fullness", "periorbital fullness" ], "alt_id": [], "def": "Increase in periorbital soft tissue.", "synonym": [ [ "fullness around the eyes", "fullness around the eye" ], [ "periorbital puffiness", "periorbital puffiness" ], [ "periorbital swelling", "periorbital swell" ], [ "puffiness around eye", "puffiness around eye" ], [ "puffy eyes", "puffy eye" ], [ "swelling around the eyes", "swell around the eye" ] ], "xref": [ "UMLS:C1858036" ], "is_a": [ "HP:0000606" ], "is_obsolete": "", "replace_id": "" }, "HP:0000630": { "name": [ "abnormal retinal artery morphology", "abnormal retinal artery morphology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of retinal arteries", "abnormality of retinal artery" ], [ "retinal arterial abnormality", "retinal arterial abnormality" ] ], "xref": [ "UMLS:C4021802" ], "is_a": [ "HP:0008046", "HP:0011004", "HP:3000036" ], "is_obsolete": "", "replace_id": "" }, "HP:0000631": { "name": [ "retinal arterial tortuosity", "retinal arterial tortuosity" ], "alt_id": [], "def": "The presence of an increased number of twists and turns of the retinal artery.", "synonym": [ [ "retinal artery tortuousity", "retinal artery tortuousity" ] ], "xref": [ "SNOMEDCT_US:247123003", "UMLS:C0423401" ], "is_a": [ "HP:0000630", "HP:0005116", "HP:0012841" ], "is_obsolete": "", "replace_id": "" }, "HP:0000632": { "name": [ "lacrimation abnormality", "lacrimation abnormality" ], "alt_id": [ "HP:0000521" ], "def": "Abnormality of tear production.", "synonym": [ [ "abnormality of tear production", "abnormality of tear production" ] ], "xref": [ "UMLS:C4021801" ], "is_a": [ "HP:0012373" ], "is_obsolete": "", "replace_id": "" }, "HP:0000633": { "name": [ "decreased lacrimation", "decrease lacrimation" ], "alt_id": [], "def": "Abnormally decreased lacrimation, that is, reduced ability to produce tears.", "synonym": [ [ "decreased tear secretion", "decrease tear secretion" ] ], "xref": [ "UMLS:C0235857" ], "is_a": [ "HP:0000632" ], "is_obsolete": "", "replace_id": "" }, "HP:0000634": { "name": [ "impaired ocular abduction", "impaired ocular abduction" ], "alt_id": [], "def": "An impaired ability of the eye to move in the outward direction (towards the side of the head).", "synonym": [], "xref": [ "UMLS:C1846462" ], "is_a": [ "HP:0011347" ], "is_obsolete": "", "replace_id": "" }, "HP:0000635": { "name": [ "blue irides", "blue iris" ], "alt_id": [], "def": "A markedly blue coloration of the iris.", "synonym": [ [ "blue eyes", "blue eye" ] ], "xref": [ "SNOMEDCT_US:301952009", "UMLS:C0578626" ], "is_a": [ "HP:0008034" ], "is_obsolete": "", "replace_id": "" }, "HP:0000636": { "name": [ "upper eyelid coloboma", "upper eyelid coloboma" ], "alt_id": [], "def": "A short discontinuity of the margin of the upper eyelid.", "synonym": [ [ "cleft upper eyelid", "cleft upper eyelid" ], [ "coloboma of the upper eyelid", "coloboma of the upper eyelid" ], [ "full thickness defect of the upper eyelid", "full thickness defect of the upper eyelid" ], [ "notched upper eyelid", "notch upper eyelid" ], [ "upper eyelid colobomas", "upper eyelid colobomas" ] ], "xref": [ "UMLS:C1863872" ], "is_a": [ "HP:0000625" ], "is_obsolete": "", "replace_id": "" }, "HP:0000637": { "name": [ "long palpebral fissure", "long palpebral fissure" ], "alt_id": [ "HP:0007904" ], "def": "Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.", "synonym": [ [ "broad opening between the eyelids", "broad opening between the eyelid" ], [ "broad palpebral fissure", "broad palpebral fissure" ], [ "long opening between the eyelids", "long open between the eyelid" ], [ "long palpebral fissures", "long palpebral fissure" ], [ "wide opening between the eyelids", "wide opening between the eyelid" ], [ "wide palpebral fissure", "wide palpebral fissure" ], [ "wide palpebral fissures", "wide palpebral fissure" ] ], "xref": [ "UMLS:C1849340" ], "is_a": [ "HP:0200007" ], "is_obsolete": "", "replace_id": "" }, "HP:0000639": { "name": [ "nystagmus", "nystagmus" ], "alt_id": [], "def": "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.", "synonym": [ [ "involuntary , rapid , rhythmic eye movements", "involuntary , rapid , rhythmic eye movement" ] ], "xref": [ "MSH:D009759", "SNOMEDCT_US:563001", "UMLS:C0028738" ], "is_a": [ "HP:0012547" ], "is_obsolete": "", "replace_id": "" }, "HP:0000640": { "name": [ "gaze - evoked nystagmus", "gaze - evoke nystagmus" ], "alt_id": [], "def": "Nystagmus made apparent by looking to the right or to the left.", "synonym": [], "xref": [ "MSH:D009760", "SNOMEDCT_US:29356006", "UMLS:C0271390" ], "is_a": [ "HP:0000639" ], "is_obsolete": "", "replace_id": "" }, "HP:0000641": { "name": [ "dysmetric saccades", "dysmetric saccade" ], "alt_id": [], "def": "The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.", "synonym": [ [ "dysmetric eye movements", "dysmetric eye movement" ], [ "dysmetric eye saccades", "dysmetric eye saccade" ], [ "uncoordinated eye movement", "uncoordinated eye movement" ] ], "xref": [ "UMLS:C1836392" ], "is_a": [ "HP:0000570" ], "is_obsolete": "", "replace_id": "" }, "HP:0000642": { "name": [ "red - green dyschromatopsia", "red - green dyschromatopsia" ], "alt_id": [ "HP:0007960" ], "def": "Difficulty with discriminating red and green hues.", "synonym": [ [ "dyschromatopsia with red - green confusion", "dyschromatopsia with red - green confusion" ], [ "red green color blindness", "red green color blindness" ], [ "red green colour blindness", "red green colour blindness" ], [ "red / green color vision defect", "red / green color vision defect" ], [ "red / green colour vision defect", "red / green colour vision defect" ] ], "xref": [ "MSH:D003117", "SNOMEDCT_US:246674000", "SNOMEDCT_US:77479002", "UMLS:C0155016", "UMLS:C1970168" ], "is_a": [ "HP:0007641" ], "is_obsolete": "", "replace_id": "" }, "HP:0000643": { "name": [ "blepharospasm", "blepharospasm" ], "alt_id": [ "HP:0007907" ], "def": "A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.", "synonym": [ [ "eyelid spasm", "eyelid spasm" ], [ "eyelid twitching", "eyelid twitching" ], [ "involuntary closure of eyelid", "involuntary closure of eyelid" ], [ "spontaneous closure of eyelid", "spontaneous closure of eyelid" ] ], "xref": [ "MSH:D001764", "SNOMEDCT_US:59026006", "UMLS:C0005747" ], "is_a": [ "HP:0012179", "HP:0031879" ], "is_obsolete": "", "replace_id": "" }, "HP:0000646": { "name": [ "amblyopia", "amblyopia" ], "alt_id": [], "def": "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.", "synonym": [ [ "lazy eye", "lazy eye" ], [ "wandering eye", "wander eye" ], [ "wandering eyes", "wander eye" ] ], "xref": [ "MSH:D000550", "SNOMEDCT_US:387742006", "UMLS:C0002418" ], "is_a": [ "HP:0007663" ], "is_obsolete": "", "replace_id": "" }, "HP:0000647": { "name": [ "sclerocornea", "sclerocornea" ], "alt_id": [], "def": "A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.", "synonym": [ [ "hardening of skin and connective tissue", "hardening of skin and connective tissue" ] ], "xref": [ "MSH:C565209", "UMLS:C1853235" ], "is_a": [ "HP:0007957" ], "is_obsolete": "", "replace_id": "" }, "HP:0000648": { "name": [ "optic atrophy", "optic atrophy" ], "alt_id": [ "HP:0007751", "HP:0007855" ], "def": "Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.", "synonym": [ [ "optic nerve atrophy", "optic nerve atrophy" ], [ "optic - nerve degeneration", "optic - nerve degeneration" ] ], "xref": [ "MSH:D009896", "SNOMEDCT_US:76976005", "UMLS:C0029124" ], "is_a": [ "HP:0012795" ], "is_obsolete": "", "replace_id": "" }, "HP:0000649": { "name": [ "abnormality of visual evoked potentials", "abnormality of visual evoked potential" ], "alt_id": [], "def": "An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.", "synonym": [ [ "abnormal vision evoked potentials", "abnormal vision evoke potential" ], [ "abnormal visual evoked potential", "abnormal visual evoke potential" ], [ "abnormal visual evoked responses", "abnormal visual evoke response" ], [ "abnormal visual - evoked potentials", "abnormal visual - evoked potential" ], [ "vep abnormalities", "vep abnormality" ] ], "xref": [ "SNOMEDCT_US:102968003", "UMLS:C0522214" ], "is_a": [ "HP:0030453" ], "is_obsolete": "", "replace_id": "" }, "HP:0000650": { "name": [ "abnormal amplitude of pattern reversal visual evoked potentials", "abnormal amplitude of pattern reversal visual evoke potential" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025834" ], "is_a": [ "HP:0100289" ], "is_obsolete": "", "replace_id": "" }, "HP:0000651": { "name": [ "diplopia", "diplopia" ], "alt_id": [], "def": "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.", "synonym": [ [ "double vision", "double vision" ] ], "xref": [ "MSH:D004172", "SNOMEDCT_US:24982008", "UMLS:C0012569" ], "is_a": [ "HP:0011514" ], "is_obsolete": "", "replace_id": "" }, "HP:0000652": { "name": [ "lower eyelid coloboma", "low eyelid coloboma" ], "alt_id": [ "HP:0007909" ], "def": "A short discontinuity of the margin of the lower eyelid.", "synonym": [ [ "cleft lower eyelid", "cleft lower eyelid" ], [ "coloboma of lower eyelid", "coloboma of low eyelid" ], [ "full thickness defect of the lower eyelid", "full thickness defect of the low eyelid" ], [ "lower lid coloboma", "low lid coloboma" ], [ "notched lower eyelid", "notch low eyelid" ] ], "xref": [ "UMLS:C1837826" ], "is_a": [ "HP:0000625" ], "is_obsolete": "", "replace_id": "" }, "HP:0000653": { "name": [ "sparse eyelashes", "sparse eyelash" ], "alt_id": [ "HP:0002284", "HP:0004519", "HP:0004531", "HP:0004555", "HP:0004777", "HP:0007853" ], "def": "Decreased density/number of eyelashes.", "synonym": [ [ "hypotrichosis of eyelashes", "hypotrichosis of eyelash" ], [ "partial absence of eyelashes", "partial absence of eyelash" ], [ "scant eyelashes", "scant eyelash" ], [ "scanty eyelashes", "scanty eyelash" ], [ "sparse eyelashes", "sparse eyelash" ], [ "thin eyelashes", "thin eyelash" ] ], "xref": [ "UMLS:C1843300" ], "is_a": [ "HP:0008070", "HP:0200102" ], "is_obsolete": "", "replace_id": "" }, "HP:0000654": { "name": [ "decreased light - and dark - adapted electroretinogram amplitude", "decrease light - and dark - adapted electroretinogram amplitude" ], "alt_id": [ "HP:0007636", "HP:0007689", "HP:0007845" ], "def": "Descreased amplitude of eletrical response upon electroretinography.", "synonym": [ [ "decreased amplitudes on flash visual electroretinogram", "decrease amplitude on flash visual electroretinogram" ], [ "decreased electroretinogram", "decrease electroretinogram" ], [ "decreased electroretinogram amplitude", "decrease electroretinogram amplitude" ], [ "decreased electroretinogram response", "decrease electroretinogram response" ], [ "decreased erg amplitude", "decrease erg amplitude" ], [ "flattened or absent electroretinogram", "flatten or absent electroretinogram" ], [ "reduced electroretinogram", "reduce electroretinogram" ], [ "reduced erg", "reduce erg" ], [ "reduced or abolished electroretinogram", "reduce or abolish electroretinogram" ] ], "xref": [ "UMLS:C1839025" ], "is_a": [ "HP:0008323" ], "is_obsolete": "", "replace_id": "" }, "HP:0000655": { "name": [ "obsolete vitreoretinal degeneration", "obsolete vitreoretinal degeneration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0007773" }, "HP:0000656": { "name": [ "ectropion", "ectropion" ], "alt_id": [], "def": "An outward turning (eversion) or rotation of the eyelid margin.", "synonym": [ [ "everted eyelid", "evert eyelid" ], [ "eyelid folded out", "eyelid fold out" ], [ "eyelid turned out", "eyelid turn out" ] ], "xref": [ "MSH:D004483", "SNOMEDCT_US:127559009", "SNOMEDCT_US:62909004", "UMLS:C0013592" ], "is_a": [ "HP:0000492" ], "is_obsolete": "", "replace_id": "" }, "HP:0000657": { "name": [ "oculomotor apraxia", "oculomotor apraxia" ], "alt_id": [ "HP:0000628", "HP:0007764" ], "def": "Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.", "synonym": [ [ "defective or absent horizontal voluntary eye movements", "defective or absent horizontal voluntary eye movement" ], [ "ocular motor apraxia", "ocular motor apraxia" ] ], "xref": [ "MSH:C537423", "SNOMEDCT_US:193662007", "UMLS:C3489733", "UMLS:C4020886" ], "is_a": [ "HP:0000496", "HP:0002186" ], "is_obsolete": "", "replace_id": "" }, "HP:0000658": { "name": [ "eyelid apraxia", "eyelid apraxia" ], "alt_id": [], "def": "", "synonym": [ [ "difficulty opening the eyelids", "difficulty open the eyelid" ] ], "xref": [ "SNOMEDCT_US:423142006", "UMLS:C1142448" ], "is_a": [ "HP:0002186", "HP:0031879" ], "is_obsolete": "", "replace_id": "" }, "HP:0000659": { "name": [ "peters anomaly", "peter anomaly" ], "alt_id": [], "def": "A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.", "synonym": [], "xref": [ "MSH:C537884", "SNOMEDCT_US:204153003", "UMLS:C0344559" ], "is_a": [ "HP:0007700" ], "is_obsolete": "", "replace_id": "" }, "HP:0000660": { "name": [ "lipemia retinalis", "lipemia retinalis" ], "alt_id": [], "def": "A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.", "synonym": [], "xref": [ "SNOMEDCT_US:95692001", "UMLS:C0339477" ], "is_a": [ "HP:0008046" ], "is_obsolete": "", "replace_id": "" }, "HP:0000661": { "name": [ "palpebral fissure narrowing on adduction", "palpebral fissure narrow on adduction" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1846465" ], "is_a": [ "HP:0000581" ], "is_obsolete": "", "replace_id": "" }, "HP:0000662": { "name": [ "nyctalopia", "nyctalopia" ], "alt_id": [ "HP:0007653", "HP:0007725", "HP:0007865", "HP:0007895" ], "def": "Inability to see well at night or in poor light.", "synonym": [ [ "difficulties with night vision", "difficulty with night vision" ], [ "night blindness", "night blindness" ], [ "night - blindness", "night - blindness" ], [ "poor night vision", "poor night vision" ] ], "xref": [ "MSH:D009755", "SNOMEDCT_US:65194006", "UMLS:C0028077", "UMLS:C4020885" ], "is_a": [ "HP:0000504" ], "is_obsolete": "", "replace_id": "" }, "HP:0000664": { "name": [ "synophrys", "synophrys" ], "alt_id": [ "HP:0002210" ], "def": "Meeting of the medial eyebrows in the midline.", "synonym": [ [ "monobrow", "monobrow" ], [ "synophris", "synophris" ], [ "unibrow", "unibrow" ] ], "xref": [ "SNOMEDCT_US:253207002", "UMLS:C0431447" ], "is_a": [ "HP:0000534", "HP:0002219" ], "is_obsolete": "", "replace_id": "" }, "HP:0000666": { "name": [ "horizontal nystagmus", "horizontal nystagmus" ], "alt_id": [], "def": "Nystagmus consisting of horizontal to-and-fro eye movements.", "synonym": [ [ "nystagmus , horizontal", "nystagmus , horizontal" ] ], "xref": [ "MSH:D009759", "SNOMEDCT_US:81756001", "UMLS:C0271385" ], "is_a": [ "HP:0000639" ], "is_obsolete": "", "replace_id": "" }, "HP:0000667": { "name": [ "phthisis bulbi", "phthisis bulbi" ], "alt_id": [], "def": "Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.", "synonym": [], "xref": [ "SNOMEDCT_US:4229009", "UMLS:C0271007" ], "is_a": [ "HP:0012372" ], "is_obsolete": "", "replace_id": "" }, "HP:0000668": { "name": [ "hypodontia", "hypodontia" ], "alt_id": [], "def": "The absence of five or less teeth from the normal series by a failure to develop.", "synonym": [ [ "failure of development of between one and six teeth", "failure of development of between one and six teeth" ], [ "missing between one and six teeth", "miss between one and six teeth" ] ], "xref": [ "MSH:D000848", "SNOMEDCT_US:64969001", "UMLS:C0020608" ], "is_a": [ "HP:0009804" ], "is_obsolete": "", "replace_id": "" }, "HP:0000670": { "name": [ "carious teeth", "carious teeth" ], "alt_id": [ "HP:0006295", "HP:0006306" ], "def": "Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.", "synonym": [ [ "caries", "caries" ], [ "cariosity of teeth", "cariosity of teeth" ], [ "dental caries", "dental caries" ], [ "dental cavities", "dental cavity" ], [ "dental decay", "dental decay" ], [ "early dental caries", "early dental caries" ], [ "frequent caries", "frequent caries" ], [ "rotting teeth", "rot teeth" ], [ "tooth cavities", "tooth cavity" ], [ "tooth decay", "tooth decay" ] ], "xref": [ "MSH:D003731", "SNOMEDCT_US:80967001", "UMLS:C0011334", "UMLS:C4280623" ], "is_a": [ "HP:0011061" ], "is_obsolete": "", "replace_id": "" }, "HP:0000674": { "name": [ "anodontia", "anodontia" ], "alt_id": [ "HP:0006484" ], "def": "The absence of all teeth from the normal series by a failure to develop.", "synonym": [ [ "anodontia vera", "anodontia vera" ], [ "complete agenesis of all teeth", "complete agenesis of all teeth" ], [ "complete anodontia", "complete anodontia" ], [ "complete dental agenesis", "complete dental agenesis" ], [ "failure of development of all teeth", "failure of development of all teeth" ], [ "missing all teeth", "miss all teeth" ], [ "total absence of all teeth", "total absence of all teeth" ], [ "total anodontia", "total anodontia" ] ], "xref": [ "MSH:D000848", "SNOMEDCT_US:16958000", "SNOMEDCT_US:26624006", "UMLS:C0399352", "UMLS:C4280622" ], "is_a": [ "HP:0009804" ], "is_obsolete": "", "replace_id": "" }, "HP:0000675": { "name": [ "macrodontia of permanent maxillary central incisor", "macrodontia of permanent maxillary central incisor" ], "alt_id": [], "def": "Increased size of the maxillary central secondary incisor tooth.", "synonym": [ [ "hyperplasia of permanent maxillary central incisor", "hyperplasia of permanent maxillary central incisor" ], [ "hypertrophy of permanent maxillary central incisor", "hypertrophy of permanent maxillary central incisor" ], [ "increased size of permanent maxillary central incisor", "increase size of permanent maxillary central incisor" ], [ "increased size of permanent upper central incisor", "increase size of permanent upper central incisor" ], [ "increased width of permanent maxillary central incisor", "increase width of permanent maxillary central incisor" ], [ "increased width of permanent upper central incisor", "increase width of permanent upper central incisor" ], [ "large permanent maxillary central incisor", "large permanent maxillary central incisor" ], [ "large permanent upper central incisor", "large permanent upper central incisor" ], [ "long maxillary central incisors", "long maxillary central incisor" ], [ "prominent upper incisors", "prominent upper incisor" ], [ "prominent , protruding upper incisors", "prominent , protrude upper incisor" ] ], "xref": [ "UMLS:C1835095", "UMLS:C4280263", "UMLS:C4280620", "UMLS:C4280621" ], "is_a": [ "HP:0011081" ], "is_obsolete": "", "replace_id": "" }, "HP:0000676": { "name": [ "abnormality of the incisor", "abnormality of the incisor" ], "alt_id": [ "HP:0006340" ], "def": "An abnormality of the Incisor tooth.", "synonym": [], "xref": [ "UMLS:C4025833" ], "is_a": [ "HP:0000164" ], "is_obsolete": "", "replace_id": "" }, "HP:0000677": { "name": [ "oligodontia", "oligodontia" ], "alt_id": [ "HP:0000702" ], "def": "The absence of six or more teeth from the normal series by a failure\\nto develop.", "synonym": [ [ "failure of development of more than six teeth", "failure of development of more than six teeth" ], [ "missing more than six teeth", "miss more than six teeth" ], [ "number of teeth decreased by more than six", "number of teeth decrease by more than six" ], [ "partial anodontia", "partial anodontia" ] ], "xref": [ "UMLS:C4082304", "UMLS:C4280619" ], "is_a": [ "HP:0009804" ], "is_obsolete": "", "replace_id": "" }, "HP:0000678": { "name": [ "dental crowding", "dental crowding" ], "alt_id": [], "def": "Changes in alignment of teeth in the dental arch", "synonym": [ [ "crowded teeth", "crowd teeth" ], [ "dental crowding", "dental crowding" ], [ "dental overcrowding", "dental overcrowding" ], [ "inadequate arch length for tooth size", "inadequate arch length for tooth size" ], [ "overcrowding of teeth", "overcrowding of teeth" ], [ "tooth mass arch size discrepancy", "tooth mass arch size discrepancy" ], [ "tooth size discrepancy", "tooth size discrepancy" ] ], "xref": [ "MSH:D008310", "SNOMEDCT_US:12351004", "SNOMEDCT_US:699222000", "UMLS:C0040433", "UMLS:C1317785", "UMLS:C4280617", "UMLS:C4280618" ], "is_a": [ "HP:0000692" ], "is_obsolete": "", "replace_id": "" }, "HP:0000679": { "name": [ "taurodontia", "taurodontia" ], "alt_id": [], "def": "Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.", "synonym": [ [ "large elongated pulp chamber", "large elongate pulp chamber" ], [ "taurodont", "taurodont" ], [ "taurodontism", "taurodontism" ] ], "xref": [ "MSH:C536946", "SNOMEDCT_US:51744007", "UMLS:C0266039", "UMLS:C4280616" ], "is_a": [ "HP:0006479", "HP:0006486", "HP:0011071" ], "is_obsolete": "", "replace_id": "" }, "HP:0000680": { "name": [ "delayed eruption of primary teeth", "delay eruption of primary teeth" ], "alt_id": [], "def": "Delayed tooth eruption affecting the primary dentition.", "synonym": [ [ "delayed eruption of baby teeth", "delay eruption of baby teeth" ], [ "delayed eruption of deciduous teeth", "delay eruption of deciduous teeth" ], [ "delayed eruption of milk teeth", "delay eruption of milk teeth" ], [ "delayed primary teeth eruption", "delay primary teeth eruption" ], [ "late eruption of baby teeth", "late eruption of baby teeth" ], [ "late eruption of milk teeth", "late eruption of milk teeth" ], [ "late eruption of primary teeth", "late eruption of primary teeth" ] ], "xref": [ "UMLS:C1849538" ], "is_a": [ "HP:0000684", "HP:0006481" ], "is_obsolete": "", "replace_id": "" }, "HP:0000682": { "name": [ "abnormal dental enamel morphology", "abnormal dental enamel morphology" ], "alt_id": [ "HP:0006322" ], "def": "An abnormality of the dental enamel.", "synonym": [ [ "abnormal tooth enamel", "abnormal tooth enamel" ], [ "abnormality of dental enamel", "abnormality of dental enamel" ], [ "defective tooth enamel", "defective tooth enamel" ], [ "dystrophic tooth enamel", "dystrophic tooth enamel" ], [ "enamel abnormalities", "enamel abnormality" ], [ "enamel abnormality", "enamel abnormality" ], [ "malformation of dental enamel", "malformation of dental enamel" ], [ "malformation of tooth enamel", "malformation of tooth enamel" ] ], "xref": [ "UMLS:C4021800", "UMLS:C4280262", "UMLS:C4280615" ], "is_a": [ "HP:0011061", "HP:3000050" ], "is_obsolete": "", "replace_id": "" }, "HP:0000683": { "name": [ "grayish enamel", "grayish enamel" ], "alt_id": [], "def": "A grey discoloration of the dental enamel.", "synonym": [ [ "gray colored tooth enamel", "gray color tooth enamel" ], [ "gray tooth shade", "gray tooth shade" ], [ "grayish enamel", "grayish enamel" ], [ "grey coloured tooth enamel", "grey colour tooth enamel" ], [ "grey tooth shade", "grey tooth shade" ], [ "greyish enamel", "greyish enamel" ] ], "xref": [ "UMLS:C1854783" ], "is_a": [ "HP:0000682", "HP:0011073" ], "is_obsolete": "", "replace_id": "" }, "HP:0000684": { "name": [ "delayed eruption of teeth", "delay eruption of teeth" ], "alt_id": [ "HP:0000686", "HP:0006294", "HP:0006314", "HP:0006328" ], "def": "Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.", "synonym": [ [ "delayed dental development", "delay dental development" ], [ "delayed dental eruption", "delay dental eruption" ], [ "delayed eruption", "delay eruption" ], [ "delayed eruption of teeth", "delay eruption of teeth" ], [ "delayed teeth eruption", "delay teeth eruption" ], [ "delayed tooth eruption", "delay tooth eruption" ], [ "eruption , delayed", "eruption , delay" ], [ "late eruption of teeth", "late eruption of teeth" ], [ "late tooth eruption", "late tooth eruption" ] ], "xref": [ "SNOMEDCT_US:5639000", "UMLS:C0239174" ], "is_a": [ "HP:0006292" ], "is_obsolete": "", "replace_id": "" }, "HP:0000685": { "name": [ "hypoplasia of teeth", "hypoplasia of teeth" ], "alt_id": [ "HP:0000688", "HP:0006281", "HP:0006307" ], "def": "Developmental hypoplasia of teeth.", "synonym": [ [ "decreased size of teeth", "decreased size of teeth" ], [ "hypoplastic teeth", "hypoplastic teeth" ], [ "underdevelopment of teeth", "underdevelopment of teeth" ] ], "xref": [ "UMLS:C0235357", "UMLS:C4280611" ], "is_a": [ "HP:0011061" ], "is_obsolete": "", "replace_id": "" }, "HP:0000687": { "name": [ "widely spaced teeth", "widely space teeth" ], "alt_id": [], "def": "Increased spaces (diastemata) between most of the teeth in the same dental arch.", "synonym": [ [ "generalised dental spacing", "generalise dental spacing" ], [ "generalised spacing of teeth", "generalised spacing of teeth" ], [ "generalized dental spacing", "generalize dental spacing" ], [ "generalized spacing of teeth", "generalize spacing of teeth" ], [ "multiple diastemata", "multiple diastema" ], [ "wide - spaced teeth", "wide - space teeth" ], [ "widely spaced teeth", "widely space teeth" ], [ "widely - spaced teeth", "widely - space teeth" ] ], "xref": [ "UMLS:C1844813" ], "is_a": [ "HP:0000692" ], "is_obsolete": "", "replace_id": "" }, "HP:0000689": { "name": [ "dental malocclusion", "dental malocclusion" ], "alt_id": [], "def": "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.", "synonym": [ [ "angle class 2 malocclusion", "angle class 2 malocclusion" ], [ "angle class 3 malocclusion", "angle class 3 malocclusion" ], [ "bad bite", "bad bite" ], [ "bilateral crossbite", "bilateral crossbite" ], [ "bilateral crossbite malocclusion", "bilateral crossbite malocclusion" ], [ "incorrect relation between upper and lower dental arches", "incorrect relation between upper and low dental arch" ], [ "malalignment of upper and lower dental arches", "malalignment of upper and low dental arch" ], [ "malocclusion", "malocclusion" ], [ "malocclusion of teeth", "malocclusion of teeth" ], [ "misalignment of upper and lower dental arches", "misalignment of upper and low dental arch" ], [ "occlusion anomaly", "occlusion anomaly" ] ], "xref": [ "MSH:D008310", "SNOMEDCT_US:47944004", "SNOMEDCT_US:707598004", "UMLS:C0024636", "UMLS:C4280613", "UMLS:C4280614" ], "is_a": [ "HP:0000692" ], "is_obsolete": "", "replace_id": "" }, "HP:0000690": { "name": [ "agenesis of maxillary lateral incisor", "agenesis of maxillary lateral incisor" ], "alt_id": [], "def": "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.", "synonym": [ [ "absence of maxillary lateral incisor", "absence of maxillary lateral incisor" ], [ "absence of upper lateral incisor", "absence of upper lateral incisor" ], [ "absent upper lateral incisors", "absent upper lateral incisor" ], [ "failure of development of maxillary lateral incisor", "failure of development of maxillary lateral incisor" ], [ "missing maxillary lateral incisor", "miss maxillary lateral incisor" ], [ "missing upper lateral incisor", "miss upper lateral incisor" ] ], "xref": [ "UMLS:C1849950", "UMLS:C4083046" ], "is_a": [ "HP:0200153", "HP:0200160" ], "is_obsolete": "", "replace_id": "" }, "HP:0000691": { "name": [ "microdontia", "microdontia" ], "alt_id": [], "def": "Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.", "synonym": [ [ "decreased size of tooth", "decreased size of tooth" ], [ "decreased width of tooth", "decrease width of tooth" ], [ "hypotrophic tooth", "hypotrophic tooth" ], [ "small teeth", "small teeth" ], [ "small tooth", "small tooth" ], [ "tooth hypoplasia", "tooth hypoplasia" ], [ "tooth hypotrophy", "tooth hypotrophy" ], [ "underdeveloped tooth", "underdeveloped tooth" ] ], "xref": [ "SNOMEDCT_US:32337007", "UMLS:C0240340", "UMLS:C4280611", "UMLS:C4280612" ], "is_a": [ "HP:0006482" ], "is_obsolete": "", "replace_id": "" }, "HP:0000692": { "name": [ "tooth malposition", "tooth malposition" ], "alt_id": [ "HP:0000693", "HP:0001569", "HP:0006303", "HP:0006478" ], "def": "Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.", "synonym": [ [ "abnormal dental position", "abnormal dental position" ], [ "abnormal teeth spacing", "abnormal teeth space" ], [ "abnormality of alignment of teeth", "abnormality of alignment of teeth" ], [ "abnormality of position of teeth", "abnormality of position of teeth" ], [ "abnormality of teeth spacing", "abnormality of teeth space" ], [ "crooked teeth", "crook teeth" ], [ "malaligned teeth", "malaligned teeth" ], [ "malposition of teeth", "malposition of teeth" ], [ "malpositioned teeth", "malpositioned teeth" ], [ "misalignment of teeth", "misalignment of teeth" ], [ "teeth , malposition", "teeth , malposition" ] ], "xref": [ "UMLS:C1852504", "UMLS:C4280610" ], "is_a": [ "HP:0000164" ], "is_obsolete": "", "replace_id": "" }, "HP:0000694": { "name": [ "odontodysplasia", "odontodysplasia" ], "alt_id": [], "def": "The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin.", "synonym": [ [ "ghost teeth", "ghost teeth" ], [ "shell teeth", "shell teeth" ], [ "teeth with dentinal dysplasia", "teeth with dentinal dysplasia" ], [ "teeth with thin dentin and large pulp chambers", "teeth with thin dentin and large pulp chamber" ], [ "teeth with type iii dentinogenesis imperfecta", "teeth with type iii dentinogenesis imperfecta" ] ], "xref": [ "SNOMEDCT_US:67504007", "UMLS:C2981132" ], "is_a": [ "HP:0000703" ], "is_obsolete": "", "replace_id": "" }, "HP:0000695": { "name": [ "natal tooth", "natal tooth" ], "alt_id": [], "def": "A tooth present at birth or erupting within the first month of life.", "synonym": [ [ "born with teeth", "bear with teeth" ], [ "natal teeth", "natal teeth" ], [ "neonatal teeth", "neonatal teeth" ], [ "teeth present at birth", "teeth present at birth" ] ], "xref": [ "MSH:D009306", "SNOMEDCT_US:21995002", "SNOMEDCT_US:58748004", "UMLS:C0027443" ], "is_a": [ "HP:0006288" ], "is_obsolete": "", "replace_id": "" }, "HP:0000696": { "name": [ "delayed eruption of permanent teeth", "delay eruption of permanent teeth" ], "alt_id": [], "def": "Delayed tooth eruption affecting the secondary dentition.", "synonym": [ [ "delayed eruption of adult teeth", "delay eruption of adult teeth" ], [ "delayed eruption of permanent teeth", "delay eruption of permanent teeth" ], [ "delayed eruption of secondary dentition", "delay eruption of secondary dentition" ], [ "delayed eruption of secondary teeth", "delay eruption of secondary teeth" ], [ "delayed permanent dentition", "delay permanent dentition" ] ], "xref": [ "UMLS:C1849540" ], "is_a": [ "HP:0000684" ], "is_obsolete": "", "replace_id": "" }, "HP:0000698": { "name": [ "conical tooth", "conical tooth" ], "alt_id": [], "def": "An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.", "synonym": [ [ "cone shaped tooth", "cone shape tooth" ], [ "conical teeth", "conical teeth" ], [ "conoid tooth", "conoid tooth" ], [ "peg shaped teeth", "peg shape teeth" ], [ "peg shaped tooth", "peg shape tooth" ], [ "peg tooth", "peg tooth" ], [ "peg - shaped teeth", "peg - shape teeth" ], [ "pointed tooth", "point tooth" ], [ "shark tooth", "shark tooth" ] ], "xref": [ "SNOMEDCT_US:29553002", "UMLS:C0266037", "UMLS:C4012359" ], "is_a": [ "HP:0006482" ], "is_obsolete": "", "replace_id": "" }, "HP:0000699": { "name": [ "diastema", "diastema" ], "alt_id": [], "def": "Increased space between two adjacent teeth in the same dental arch.", "synonym": [ [ "dental diastasis", "dental diastasis" ], [ "dental diastema", "dental diastema" ], [ "diastasis of the teeth", "diastasis of the teeth" ], [ "diastema of the teeth", "diastema of the teeth" ], [ "gap between teeth", "gap between teeth" ], [ "gaps between teeth", "gap between teeth" ] ], "xref": [ "MSH:D003970", "SNOMEDCT_US:35591002", "UMLS:C0011998" ], "is_a": [ "HP:0000692" ], "is_obsolete": "", "replace_id": "" }, "HP:0000700": { "name": [ "periapical bone loss", "periapical bone loss" ], "alt_id": [], "def": "Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).", "synonym": [ [ "bone loss around tooth root", "bone loss around tooth root" ], [ "dark spot around tooth root on x - ray", "dark spot around tooth root on x - ray" ], [ "periapical cyst", "periapical cyst" ], [ "periapical granuloma", "periapical granuloma" ], [ "periapical lesion", "periapical lesion" ], [ "periapical radiolucencies", "periapical radiolucencies" ], [ "periapical radiolucency", "periapical radiolucency" ] ], "xref": [ "MSH:D010484", "MSH:D011842", "SNOMEDCT_US:81407003", "SNOMEDCT_US:89988002", "UMLS:C0031029", "UMLS:C0034543", "UMLS:C1852169", "UMLS:C4280609" ], "is_a": [ "HP:0000164" ], "is_obsolete": "", "replace_id": "" }, "HP:0000703": { "name": [ "dentinogenesis imperfecta", "dentinogenesis imperfecta" ], "alt_id": [], "def": "Developmental dysplasia of dentin.", "synonym": [], "xref": [ "MSH:D003811", "SNOMEDCT_US:196286005", "UMLS:C0011436" ], "is_a": [ "HP:0010299", "HP:3000050" ], "is_obsolete": "", "replace_id": "" }, "HP:0000704": { "name": [ "periodontitis", "periodontitis" ], "alt_id": [ "HP:0000165", "HP:0006301" ], "def": "Inflammation of the periodontium.", "synonym": [ [ "gum disease", "gum disease" ], [ "periodontal disease", "periodontal disease" ], [ "pyorrhea", "pyorrhea" ] ], "xref": [ "MSH:D005882", "MSH:D010510", "MSH:D010518", "SNOMEDCT_US:18718003", "SNOMEDCT_US:2556008", "SNOMEDCT_US:41565005", "UMLS:C0017563", "UMLS:C0031090", "UMLS:C0031099" ], "is_a": [ "HP:0000164", "HP:0000168", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0000705": { "name": [ "amelogenesis imperfecta", "amelogenesis imperfecta" ], "alt_id": [ "HP:0006284", "HP:0006310", "HP:0006325", "HP:0006327", "HP:0006331" ], "def": "A developmental dysplasia of the dental enamel.", "synonym": [], "xref": [ "MSH:D000567", "SNOMEDCT_US:78494001", "UMLS:C0002452" ], "is_a": [ "HP:0000682" ], "is_obsolete": "", "replace_id": "" }, "HP:0000706": { "name": [ "eruption failure", "eruption failure" ], "alt_id": [], "def": "A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.", "synonym": [ [ "failure of eruption of tooth", "failure of eruption of tooth" ], [ "pseudo - anodontia", "pseudo - anodontia" ], [ "pseudoanodontia", "pseudoanodontia" ], [ "unerupted dentition", "unerupted dentition" ], [ "unerupted tooth", "unerupted tooth" ] ], "xref": [ "SNOMEDCT_US:109542004", "UMLS:C1290587" ], "is_a": [ "HP:0006292" ], "is_obsolete": "", "replace_id": "" }, "HP:0000707": { "name": [ "abnormality of the nervous system", "abnormality of the nervous system" ], "alt_id": [ "HP:0001333", "HP:0006987" ], "def": "An abnormality of the nervous system.", "synonym": [ [ "abnormality of the nervous system", "abnormality of the nervous system" ], [ "brain and / or spinal cord issue", "brain and / or spinal cord issue" ], [ "neurologic abnormalities", "neurologic abnormality" ], [ "neurological abnormality", "neurological abnormality" ] ], "xref": [ "MSH:D009421", "SNOMEDCT_US:88425004", "UMLS:C0497552" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0000708": { "name": [ "behavioral abnormality", "behavioral abnormality" ], "alt_id": [ "HP:0000715", "HP:0002368", "HP:0002456" ], "def": "An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.", "synonym": [ [ "behavioral abnormality", "behavioral abnormality" ], [ "behavioral changes", "behavioral change" ], [ "behavioral disorders", "behavioral disorder" ], [ "behavioral disturbances", "behavioral disturbance" ], [ "behavioral problems", "behavioral problem" ], [ "behavioral symptoms", "behavioral symptom" ], [ "behavioral / psychiatric abnormalities", "behavioral / psychiatric abnormality" ], [ "behavioural abnormality", "behavioural abnormality" ], [ "behavioural changes", "behavioural change" ], [ "behavioural disorders", "behavioural disorder" ], [ "behavioural disturbances", "behavioural disturbance" ], [ "behavioural problems", "behavioural problem" ], [ "behavioural symptoms", "behavioural symptom" ], [ "behavioural / psychiatric abnormality", "behavioural / psychiatric abnormality" ], [ "psychiatric disorders", "psychiatric disorder" ], [ "psychiatric disturbances", "psychiatric disturbance" ] ], "xref": [ "MSH:D000066553", "MSH:D001526", "SNOMEDCT_US:25786006", "SNOMEDCT_US:277843001", "UMLS:C0004941", "UMLS:C0233514" ], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0000709": { "name": [ "psychosis", "psychosis" ], "alt_id": [], "def": "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.", "synonym": [ [ "psychosis", "psychosis" ] ], "xref": [ "MSH:D011618", "SNOMEDCT_US:69322001", "UMLS:C0033975" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0000710": { "name": [ "hyperorality", "hyperorality" ], "alt_id": [], "def": "A tendency or compulsion to examine objects by mouth.", "synonym": [ [ "hyperoralia", "hyperoralia" ] ], "xref": [ "UMLS:C1838320" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0000711": { "name": [ "restlessness", "restlessness" ], "alt_id": [], "def": "A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress.", "synonym": [ [ "restlessness", "restlessness" ] ], "xref": [ "SNOMEDCT_US:162221009", "UMLS:C3887611" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0000712": { "name": [ "emotional lability", "emotional lability" ], "alt_id": [ "HP:0001575", "HP:0008766" ], "def": "Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances.", "synonym": [ [ "emotional instability", "emotional instability" ], [ "mood alterations", "mood alteration" ], [ "mood changes", "mood change" ], [ "mood lability", "mood lability" ] ], "xref": [ "SNOMEDCT_US:18963009", "UMLS:C0085633" ], "is_a": [ "HP:0031466", "HP:0100851" ], "is_obsolete": "", "replace_id": "" }, "HP:0000713": { "name": [ "agitation", "agitation" ], "alt_id": [], "def": "A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension.", "synonym": [], "xref": [ "SNOMEDCT_US:24199005", "UMLS:C0085631" ], "is_a": [ "HP:0000711" ], "is_obsolete": "", "replace_id": "" }, "HP:0000716": { "name": [ "depression", "depression" ], "alt_id": [], "def": "Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.", "synonym": [ [ "depression", "depression" ], [ "depressive disorder", "depressive disorder" ], [ "depressivity", "depressivity" ] ], "xref": [ "MSH:D003866", "SNOMEDCT_US:21061000119107", "SNOMEDCT_US:35489007", "SNOMEDCT_US:78667006", "UMLS:C0011581" ], "is_a": [ "HP:0031466" ], "is_obsolete": "", "replace_id": "" }, "HP:0000717": { "name": [ "autism", "autism" ], "alt_id": [], "def": "Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).", "synonym": [ [ "autism", "autism" ] ], "xref": [ "MSH:D001321", "SNOMEDCT_US:408856003", "SNOMEDCT_US:408857007", "SNOMEDCT_US:43614003", "UMLS:C0004352" ], "is_a": [ "HP:0000729" ], "is_obsolete": "", "replace_id": "" }, "HP:0000718": { "name": [ "aggressive behavior", "aggressive behavior" ], "alt_id": [], "def": "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.", "synonym": [ [ "aggression", "aggression" ], [ "aggressive behavior", "aggressive behavior" ], [ "aggressive behaviour", "aggressive behaviour" ], [ "aggressiveness", "aggressiveness" ], [ "physical aggression", "physical aggression" ] ], "xref": [ "MSH:D000374", "SNOMEDCT_US:248004009", "SNOMEDCT_US:61372001", "UMLS:C0001807", "UMLS:C0424323", "UMLS:C1457883" ], "is_a": [ "HP:0006919" ], "is_obsolete": "", "replace_id": "" }, "HP:0000719": { "name": [ "inappropriate behavior", "inappropriate behavior" ], "alt_id": [], "def": "", "synonym": [ [ "inappropriate behavior", "inappropriate behavior" ], [ "inappropriate behaviour", "inappropriate behaviour" ] ], "xref": [ "SNOMEDCT_US:112082005", "UMLS:C0233522" ], "is_a": [ "HP:0031466" ], "is_obsolete": "", "replace_id": "" }, "HP:0000720": { "name": [ "mood swings", "mood swing" ], "alt_id": [], "def": "An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels.", "synonym": [ [ "mood swings", "mood swing" ] ], "xref": [ "SNOMEDCT_US:18963009", "UMLS:C0085633" ], "is_a": [ "HP:0100851" ], "is_obsolete": "", "replace_id": "" }, "HP:0000721": { "name": [ "lack of spontaneous play", "lack of spontaneous play" ], "alt_id": [], "def": "", "synonym": [ [ "lack of spontaneous play", "lack of spontaneous play" ] ], "xref": [ "UMLS:C1837650" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0000722": { "name": [ "obsessive - compulsive behavior", "obsessive - compulsive behavior" ], "alt_id": [], "def": "Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV).", "synonym": [ [ "obsessive compulsive behavior", "obsessive compulsive behavior" ], [ "obsessive compulsive behaviour", "obsessive compulsive behaviour" ], [ "obsessive compulsive disorder", "obsessive compulsive disorder" ], [ "obsessive - compulsive behavior", "obsessive - compulsive behavior" ], [ "obsessive - compulsive behaviour", "obsessive - compulsive behaviour" ], [ "obsessive - compulsive disorder", "obsessive - compulsive disorder" ] ], "xref": [ "MSH:D003192", "MSH:D009771", "SNOMEDCT_US:12479006", "SNOMEDCT_US:191736004", "UMLS:C0028768", "UMLS:C0600104" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0000723": { "name": [ "restrictive behavior", "restrictive behavior" ], "alt_id": [], "def": "Behavior characterized by an abnormal limitation to few interests and activities.", "synonym": [ [ "restricted behavior", "restrict behavior" ], [ "restricted behaviour", "restrict behaviour" ], [ "restrictive behavior , interests , and activities", "restrictive behavior , interest , and activity" ], [ "restrictive behaviour", "restrictive behaviour" ] ], "xref": [ "UMLS:C2675334", "UMLS:C4021799" ], "is_a": [ "HP:0000729" ], "is_obsolete": "", "replace_id": "" }, "HP:0000725": { "name": [ "psychotic episodes", "psychotic episode" ], "alt_id": [], "def": "", "synonym": [ [ "psychotic episodes", "psychotic episode" ] ], "xref": [ "UMLS:C0338614" ], "is_a": [ "HP:0000709" ], "is_obsolete": "", "replace_id": "" }, "HP:0000726": { "name": [ "dementia", "dementia" ], "alt_id": [ "HP:0002274", "HP:0007122", "HP:0007150", "HP:0007283" ], "def": "A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.", "synonym": [ [ "dementia", "dementia" ], [ "dementia , progressive", "dementia , progressive" ], [ "progressive dementia", "progressive dementia" ] ], "xref": [ "MSH:D003704", "SNOMEDCT_US:52448006", "UMLS:C0497327" ], "is_a": [ "HP:0001268" ], "is_obsolete": "", "replace_id": "" }, "HP:0000727": { "name": [ "frontal lobe dementia", "frontal lobe dementia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:278857002", "UMLS:C0338455" ], "is_a": [ "HP:0000726" ], "is_obsolete": "", "replace_id": "" }, "HP:0000728": { "name": [ "impaired ability to form peer relationships", "impaired ability to form peer relationship" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1837649" ], "is_a": [ "HP:0000735" ], "is_obsolete": "", "replace_id": "" }, "HP:0000729": { "name": [ "autistic behavior", "autistic behavior" ], "alt_id": [], "def": "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.", "synonym": [ [ "autism spectrum disorder", "autism spectrum disorder" ], [ "autism spectrum disorders", "autism spectrum disorder" ], [ "autistic behaviors", "autistic behavior" ], [ "autistic behaviour", "autistic behaviour" ], [ "autistic behaviours", "autistic behaviour" ], [ "pervasive developmental disorder", "pervasive developmental disorder" ] ], "xref": [ "MSH:D000067877", "UMLS:C0856975", "UMLS:C1510586" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0000732": { "name": [ "inflexible adherence to routines or rituals", "inflexible adherence to routines or ritual" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1837653" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0000733": { "name": [ "stereotypy", "stereotypy" ], "alt_id": [ "HP:0008758", "HP:0008759" ], "def": "A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.", "synonym": [ [ "repetitive movements", "repetitive movement" ], [ "repetitive or self - injurious behavior", "repetitive or self - injurious behavior" ], [ "repetitive or self - injurious behaviour", "repetitive or self - injurious behaviour" ], [ "stereotyped behavior", "stereotype behavior" ], [ "stereotyped behaviors", "stereotype behavior" ], [ "stereotyped behaviour", "stereotype behaviour" ], [ "stereotyped behaviours", "stereotype behaviour" ], [ "stereotyped , repetitive behavior", "stereotype , repetitive behavior" ], [ "stereotyped , repetitive behaviour", "stereotype , repetitive behaviour" ], [ "stereotypic behavior", "stereotypic behavior" ], [ "stereotypic behaviors", "stereotypic behavior" ], [ "stereotypic behaviour", "stereotypic behaviour" ], [ "stereotypic behaviours", "stereotypic behaviour" ], [ "stereotypical motor behavior", "stereotypical motor behavior" ], [ "stereotypical motor behaviors", "stereotypical motor behavior" ], [ "stereotypical motor behaviours", "stereotypical motor behaviour" ] ], "xref": [ "MSH:D013239", "MSH:D019956", "SNOMEDCT_US:5507002", "SNOMEDCT_US:84328007", "UMLS:C0038271", "UMLS:C0038273" ], "is_a": [ "HP:0004305" ], "is_obsolete": "", "replace_id": "" }, "HP:0000734": { "name": [ "disinhibition", "disinhibition" ], "alt_id": [], "def": "A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment.", "synonym": [ [ "disinhibition", "disinhibition" ] ], "xref": [ "SNOMEDCT_US:247977003", "UMLS:C0424296" ], "is_a": [ "HP:0031466" ], "is_obsolete": "", "replace_id": "" }, "HP:0000735": { "name": [ "impaired social interactions", "impaired social interaction" ], "alt_id": [], "def": "Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships.", "synonym": [ [ "impaired social interaction", "impaired social interaction" ], [ "impaired social interactions", "impaired social interaction" ], [ "poor social interactions", "poor social interaction" ] ], "xref": [ "MSH:D000067404", "SNOMEDCT_US:88598008", "UMLS:C0150080" ], "is_a": [ "HP:0000729", "HP:0012433" ], "is_obsolete": "", "replace_id": "" }, "HP:0000736": { "name": [ "short attention span", "short attention span" ], "alt_id": [], "def": "Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder.", "synonym": [ [ "easily distracted", "easily distract" ], [ "poor attention span", "poor attention span" ], [ "problem paying attention", "problem pay attention" ], [ "short attention span", "short attention span" ] ], "xref": [ "SNOMEDCT_US:247762003", "UMLS:C0262630" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0000737": { "name": [ "irritability", "irritability" ], "alt_id": [], "def": "A proneness to anger, i.e., a condition of being easily bothered or annoyed.", "synonym": [ [ "irritability", "irritability" ], [ "irritable", "irritable" ] ], "xref": [ "UMLS:C2700617" ], "is_a": [ "HP:0100851" ], "is_obsolete": "", "replace_id": "" }, "HP:0000738": { "name": [ "hallucinations", "hallucination" ], "alt_id": [], "def": "Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.", "synonym": [ [ "hallucination", "hallucination" ], [ "hallucinations", "hallucination" ], [ "sensory hallucination", "sensory hallucination" ] ], "xref": [ "MSH:D006212", "SNOMEDCT_US:7011001", "UMLS:C0018524", "UMLS:C0235153" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0000739": { "name": [ "anxiety", "anxiety" ], "alt_id": [], "def": "Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.", "synonym": [ [ "anxiety", "anxiety" ], [ "anxiety disease", "anxiety disease" ], [ "anxiousness", "anxiousness" ], [ "excessive , persistent worry and fear", "excessive , persistent worry and fear" ] ], "xref": [ "MSH:D001007", "SNOMEDCT_US:48694002", "UMLS:C0003467", "UMLS:C4020884" ], "is_a": [ "HP:0100852" ], "is_obsolete": "", "replace_id": "" }, "HP:0000740": { "name": [ "episodic paroxysmal anxiety", "episodic paroxysmal anxiety" ], "alt_id": [], "def": "Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable.", "synonym": [], "xref": [ "UMLS:C1854339" ], "is_a": [ "HP:0000739" ], "is_obsolete": "", "replace_id": "" }, "HP:0000741": { "name": [ "apathy", "apathy" ], "alt_id": [], "def": "", "synonym": [ [ "lack of feeling , emotion , interest", "lack of feeling , emotion , interest" ] ], "xref": [ "MSH:D057565", "SNOMEDCT_US:20602000", "UMLS:C0085632" ], "is_a": [ "HP:0000745" ], "is_obsolete": "", "replace_id": "" }, "HP:0000742": { "name": [ "self - mutilation", "self - mutilation" ], "alt_id": [], "def": "", "synonym": [ [ "deliberate self - harm", "deliberate self - harm" ], [ "self mutilation", "self mutilation" ], [ "self - mutilation", "self - mutilation" ] ], "xref": [ "MSH:D012652", "SNOMEDCT_US:130968006", "UMLS:C0036601" ], "is_a": [ "HP:0100716" ], "is_obsolete": "", "replace_id": "" }, "HP:0000743": { "name": [ "frontal release signs", "frontal release sign" ], "alt_id": [ "HP:0006911" ], "def": "Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.", "synonym": [ [ "frontal release reflexes", "frontal release reflex" ] ], "xref": [ "UMLS:C1833297" ], "is_a": [ "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0000744": { "name": [ "low frustration tolerance", "low frustration tolerance" ], "alt_id": [], "def": "The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors.", "synonym": [ [ "intolerance to frustration", "intolerance to frustration" ] ], "xref": [ "UMLS:C0548883" ], "is_a": [ "HP:0100851" ], "is_obsolete": "", "replace_id": "" }, "HP:0000745": { "name": [ "diminished motivation", "diminish motivation" ], "alt_id": [], "def": "A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.", "synonym": [ [ "diminished motivation", "diminish motivation" ], [ "lack of initiative", "lack of initiative" ], [ "lack of motivation", "lack of motivation" ], [ "lacking in initiative", "lack in initiative" ], [ "lacks initiative", "lack initiative" ] ], "xref": [ "SNOMEDCT_US:277521002", "UMLS:C0456814" ], "is_a": [ "HP:0100851" ], "is_obsolete": "", "replace_id": "" }, "HP:0000746": { "name": [ "delusions", "delusion" ], "alt_id": [], "def": "A false belief that is held despite evidence to the contrary.", "synonym": [ [ "delusions", "delusion" ] ], "xref": [ "MSH:D003702", "SNOMEDCT_US:2073000", "UMLS:C0011253" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0000748": { "name": [ "inappropriate laughter", "inappropriate laughter" ], "alt_id": [], "def": "", "synonym": [ [ "inappropriate laughter", "inappropriate laughter" ] ], "xref": [ "SNOMEDCT_US:247985007", "UMLS:C0424304" ], "is_a": [ "HP:0000719" ], "is_obsolete": "", "replace_id": "" }, "HP:0000749": { "name": [ "paroxysmal bursts of laughter", "paroxysmal burst of laughter" ], "alt_id": [], "def": "", "synonym": [ [ "paroxysmal laughter", "paroxysmal laughter" ] ], "xref": [ "UMLS:C1839749" ], "is_a": [ "HP:0000748" ], "is_obsolete": "", "replace_id": "" }, "HP:0000750": { "name": [ "delayed speech and language development", "delay speech and language development" ], "alt_id": [ "HP:0002116", "HP:0002117", "HP:0002336", "HP:0002399", "HP:0002498", "HP:0006936", "HP:0007004", "HP:0007127", "HP:0007170", "HP:0007172" ], "def": "A degree of language development that is significantly below the norm for a child of a specified age.", "synonym": [ [ "deficiency of speech development", "deficiency of speech development" ], [ "delayed language development", "delay language development" ], [ "delayed speech", "delay speech" ], [ "delayed speech acquisition", "delay speech acquisition" ], [ "delayed speech and language development", "delay speech and language development" ], [ "delayed speech development", "delay speech development" ], [ "impaired speech and language development", "impaired speech and language development" ], [ "impaired speech development", "impaired speech development" ], [ "language delay", "language delay" ], [ "language delayed", "language delay" ], [ "language development deficit", "language development deficit" ], [ "late - onset speech development", "late - onset speech development" ], [ "poor language development", "poor language development" ], [ "poor speech acquisition", "poor speech acquisition" ], [ "poor speech development", "poor speech development" ], [ "speech and language delay", "speech and language delay" ], [ "speech and language difficulties", "speech and language difficulty" ], [ "speech delay", "speech delay" ], [ "speech difficulties", "speech difficulty" ] ], "xref": [ "MSH:D007805", "SNOMEDCT_US:162294008", "SNOMEDCT_US:229721007", "SNOMEDCT_US:29164008", "SNOMEDCT_US:62415009", "UMLS:C0023012", "UMLS:C0233715", "UMLS:C0241210", "UMLS:C0454644" ], "is_a": [ "HP:0002167", "HP:0002463", "HP:0012758" ], "is_obsolete": "", "replace_id": "" }, "HP:0000751": { "name": [ "personality changes", "personality change" ], "alt_id": [], "def": "An abnormal shift in patterns of thinking, acting, or feeling.", "synonym": [ [ "personality change", "personality change" ], [ "personality changes", "personality change" ] ], "xref": [ "SNOMEDCT_US:102943000", "SNOMEDCT_US:192073007", "UMLS:C0240735" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0000752": { "name": [ "hyperactivity", "hyperactivity" ], "alt_id": [ "HP:0008764" ], "def": "Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.", "synonym": [ [ "hyperactive behavior", "hyperactive behavior" ], [ "hyperactive behaviour", "hyperactive behaviour" ], [ "more active than typical", "more active than typical" ] ], "xref": [ "MSH:D006948", "SNOMEDCT_US:44548000", "UMLS:C0424295" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0000753": { "name": [ "autism with high cognitive abilities", "autism with high cognitive ability" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025832" ], "is_a": [ "HP:0000729" ], "is_obsolete": "", "replace_id": "" }, "HP:0000756": { "name": [ "agoraphobia", "agoraphobia" ], "alt_id": [], "def": "A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather.", "synonym": [ [ "fear of open spaces", "fear of open space" ] ], "xref": [ "MSH:D000379", "SNOMEDCT_US:247830007", "SNOMEDCT_US:70691001", "UMLS:C0001818" ], "is_a": [ "HP:0100852" ], "is_obsolete": "", "replace_id": "" }, "HP:0000757": { "name": [ "lack of insight", "lack of insight" ], "alt_id": [], "def": "", "synonym": [ [ "lack of insight", "lack of insight" ] ], "xref": [ "SNOMEDCT_US:24340004", "UMLS:C0233824" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0000758": { "name": [ "impaired use of nonverbal behaviors", "impaired use of nonverbal behavior" ], "alt_id": [], "def": "Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures.", "synonym": [ [ "impaired use of nonverbal behaviors", "impaired use of nonverbal behavior" ], [ "impaired use of nonverbal behaviours", "impaired use of nonverbal behaviour" ] ], "xref": [ "UMLS:C4021798" ], "is_a": [ "HP:0000735" ], "is_obsolete": "", "replace_id": "" }, "HP:0000759": { "name": [ "abnormal peripheral nervous system morphology", "abnormal peripheral nervous system morphology" ], "alt_id": [ "HP:0003483" ], "def": "A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).", "synonym": [ [ "abnormal peripheral nervous system structure", "abnormal peripheral nervous system structure" ], [ "peripheral nervous system disease", "peripheral nervous system disease" ] ], "xref": [ "MSH:D010523", "SNOMEDCT_US:302226006", "SNOMEDCT_US:42658009", "UMLS:C0031117", "UMLS:C4025831" ], "is_a": [ "HP:0012639" ], "is_obsolete": "", "replace_id": "" }, "HP:0000762": { "name": [ "decreased nerve conduction velocity", "decrease nerve conduction velocity" ], "alt_id": [ "HP:0000761", "HP:0007118", "HP:0007218", "HP:0007231" ], "def": "A reduction in the speed at which electrical signals propagate along the axon of a neuron.", "synonym": [ [ "decreased ncv", "decrease ncv" ], [ "decreased nerve conduction velocities", "decrease nerve conduction velocity" ], [ "delayed nerve conduction velocity", "delay nerve conduction velocity" ], [ "reduced nerve conduction velocities", "reduce nerve conduction velocity" ], [ "slow nerve conduction velocity", "slow nerve conduction velocity" ], [ "slowed nerve conduction velocities", "slow nerve conduction velocity" ] ], "xref": [ "UMLS:C1857640" ], "is_a": [ "HP:0040129" ], "is_obsolete": "", "replace_id": "" }, "HP:0000763": { "name": [ "sensory neuropathy", "sensory neuropathy" ], "alt_id": [ "HP:0003410", "HP:0006815", "HP:0007043", "HP:0007142" ], "def": "Peripheral neuropathy affecting the sensory nerves.", "synonym": [ [ "damage to nerves that sense feeling", "damage to nerve that sense feel" ], [ "peripheral sensory neuropathy", "peripheral sensory neuropathy" ] ], "xref": [ "SNOMEDCT_US:95662005", "UMLS:C0151313" ], "is_a": [ "HP:0009830" ], "is_obsolete": "", "replace_id": "" }, "HP:0000764": { "name": [ "peripheral axonal degeneration", "peripheral axonal degeneration" ], "alt_id": [ "HP:0006787", "HP:0006876", "HP:0007304" ], "def": "Progressive deterioration of peripheral axons.", "synonym": [], "xref": [ "UMLS:C4025830" ], "is_a": [ "HP:0000759" ], "is_obsolete": "", "replace_id": "" }, "HP:0000765": { "name": [ "abnormal thorax morphology", "abnormal thorax morphology" ], "alt_id": [ "HP:0100655" ], "def": "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).", "synonym": [ [ "abnormality of the chest", "abnormality of the chest" ], [ "abnormality of the thorax", "abnormality of the thorax" ], [ "structural abnormality of the chest wall", "structural abnormality of the chest wall" ] ], "xref": [ "UMLS:C4021797" ], "is_a": [ "HP:0009121" ], "is_obsolete": "", "replace_id": "" }, "HP:0000766": { "name": [ "abnormal sternum morphology", "abnormal sternum morphology" ], "alt_id": [ "HP:0000780", "HP:0006586", "HP:0006594", "HP:0006605", "HP:0006630", "HP:0006708" ], "def": "An anomaly of the sternum, also known as the breastbone.", "synonym": [ [ "abnormality of the sternum", "abnormality of the sternum" ], [ "pectus carinatum or pectus excavatum", "pectus carinatum or pectus excavatum" ], [ "pectus deformities", "pectus deformity" ], [ "pectus deformity", "pectus deformity" ], [ "pectus excavatum or carinatum", "pectus excavatum or carinatum" ], [ "pectus excavatum or pectus carinatum", "pectus excavatum or pectus carinatum" ], [ "pectus excavatum / carinatum", "pectus excavatum / carinatum" ], [ "sternal anomalies", "sternal anomaly" ] ], "xref": [ "UMLS:C1860493" ], "is_a": [ "HP:0000765" ], "is_obsolete": "", "replace_id": "" }, "HP:0000767": { "name": [ "pectus excavatum", "pectus excavatum" ], "alt_id": [ "HP:0006613", "HP:0006617" ], "def": "A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.", "synonym": [ [ "funnel chest", "funnel chest" ] ], "xref": [ "SNOMEDCT_US:391987005", "UMLS:C2051831" ], "is_a": [ "HP:0000766" ], "is_obsolete": "", "replace_id": "" }, "HP:0000768": { "name": [ "pectus carinatum", "pectus carinatum" ], "alt_id": [ "HP:0006639" ], "def": "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.", "synonym": [ [ "pigeon chest", "pigeon chest" ] ], "xref": [ "MSH:D066166", "SNOMEDCT_US:205101001", "UMLS:C0158731" ], "is_a": [ "HP:0000766" ], "is_obsolete": "", "replace_id": "" }, "HP:0000769": { "name": [ "abnormality of the breast", "abnormality of the breast" ], "alt_id": [], "def": "An abnormality of the breast.", "synonym": [ [ "abnormality of the breast", "abnormality of the breast" ] ], "xref": [ "UMLS:C4025829" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0000771": { "name": [ "gynecomastia", "gynecomastia" ], "alt_id": [ "HP:0000770" ], "def": "Abnormal development of large mammary glands in males resulting in breast enlargement.", "synonym": [ [ "enlarged male breast", "enlarge male breast" ], [ "gynaecomastia", "gynaecomastia" ] ], "xref": [ "MSH:D006177", "SNOMEDCT_US:4754008", "UMLS:C0018418" ], "is_a": [ "HP:0031093" ], "is_obsolete": "", "replace_id": "" }, "HP:0000772": { "name": [ "abnormality of the ribs", "abnormality of the rib" ], "alt_id": [ "HP:0006618" ], "def": "An anomaly of the rib.", "synonym": [ [ "abnormality of the ribs", "abnormality of the rib" ], [ "rib abnormalities", "rib abnormality" ], [ "rib anomalies", "rib anomaly" ] ], "xref": [ "UMLS:C1842083" ], "is_a": [ "HP:0001547" ], "is_obsolete": "", "replace_id": "" }, "HP:0000773": { "name": [ "short ribs", "short rib" ], "alt_id": [ "HP:0000899", "HP:0000908", "HP:0009750" ], "def": "Reduced rib length.", "synonym": [ [ "hypoplastic ribs", "hypoplastic rib" ], [ "rib hypoplasia", "rib hypoplasia" ], [ "short ribs", "short rib" ] ], "xref": [ "SNOMEDCT_US:249696007", "UMLS:C0426817" ], "is_a": [ "HP:0006712" ], "is_obsolete": "", "replace_id": "" }, "HP:0000774": { "name": [ "narrow chest", "narrow chest" ], "alt_id": [ "HP:0000909", "HP:0005252", "HP:0006588" ], "def": "Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.", "synonym": [ [ "low chest circumference", "low chest circumference" ], [ "narrow chest", "narrow chest" ], [ "narrow shoulders", "narrow shoulder" ], [ "narrow thorax", "narrow thorax" ], [ "reduced anterior - posterior chest diameter", "reduce anterior - posterior chest diameter" ] ], "xref": [ "SNOMEDCT_US:249671009", "UMLS:C0426790" ], "is_a": [ "HP:0005257" ], "is_obsolete": "", "replace_id": "" }, "HP:0000775": { "name": [ "abnormality of the diaphragm", "abnormality of the diaphragm" ], "alt_id": [ "HP:0005204" ], "def": "Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.", "synonym": [ [ "abnormality of the diaphragm", "abnormality of the diaphragm" ], [ "diaphragm issues", "diaphragm issue" ], [ "diaphragmatic defect", "diaphragmatic defect" ] ], "xref": [ "UMLS:C1848873" ], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0000776": { "name": [ "congenital diaphragmatic hernia", "congenital diaphragmatic hernia" ], "alt_id": [ "HP:0006604" ], "def": "The presence of a hernia of the diaphragm present at birth.", "synonym": [ [ "diaphragmatic hernia", "diaphragmatic hernia" ] ], "xref": [ "MSH:D065630", "SNOMEDCT_US:17190001", "UMLS:C0235833" ], "is_a": [ "HP:0000775", "HP:0100790" ], "is_obsolete": "", "replace_id": "" }, "HP:0000777": { "name": [ "abnormality of the thymus", "abnormality of the thymus" ], "alt_id": [], "def": "Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.", "synonym": [ [ "abnormality of the thymus", "abnormality of the thymus" ] ], "xref": [ "SNOMEDCT_US:93297002", "UMLS:C0262650", "UMLS:C0685891" ], "is_a": [ "HP:0000818", "HP:0100763" ], "is_obsolete": "", "replace_id": "" }, "HP:0000778": { "name": [ "hypoplasia of the thymus", "hypoplasia of the thymus" ], "alt_id": [], "def": "Underdevelopment of the thymus.", "synonym": [ [ "small thymus", "small thymus" ], [ "thymic hypoplasia", "thymic hypoplasia" ], [ "thymus hypoplasia", "thymus hypoplasia" ] ], "xref": [ "SNOMEDCT_US:93297002", "UMLS:C0685891", "UMLS:C4228227" ], "is_a": [ "HP:0010515" ], "is_obsolete": "", "replace_id": "" }, "HP:0000782": { "name": [ "abnormal scapula morphology", "abnormal scapula morphology" ], "alt_id": [], "def": "Any abnormality of the scapula, also known as the shoulder blade.", "synonym": [ [ "abnormality of the shoulder blade", "abnormality of the shoulder blade" ] ], "xref": [ "UMLS:C4025828" ], "is_a": [ "HP:0000765" ], "is_obsolete": "", "replace_id": "" }, "HP:0000786": { "name": [ "primary amenorrhea", "primary amenorrhea" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:8913004", "UMLS:C0232939" ], "is_a": [ "HP:0000141" ], "is_obsolete": "", "replace_id": "" }, "HP:0000787": { "name": [ "nephrolithiasis", "nephrolithiasis" ], "alt_id": [ "HP:0000102" ], "def": "The presence of calculi (stones) in the kidneys.", "synonym": [ [ "kidney stones", "kidney stone" ], [ "renal calculi", "renal calculus" ], [ "renal stones", "renal stone" ] ], "xref": [ "MSH:D053040", "UMLS:C0392525" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0000789": { "name": [ "infertility", "infertility" ], "alt_id": [], "def": "", "synonym": [ [ "infertility", "infertility" ] ], "xref": [ "MSH:D007246", "SNOMEDCT_US:15296000", "SNOMEDCT_US:8619003", "UMLS:C0021359" ], "is_a": [ "HP:0000144" ], "is_obsolete": "", "replace_id": "" }, "HP:0000790": { "name": [ "hematuria", "hematuria" ], "alt_id": [], "def": "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).", "synonym": [ [ "blood in urine", "blood in urine" ], [ "high urine occult blood", "high urine occult blood" ] ], "xref": [ "MSH:D006417", "SNOMEDCT_US:34436003", "SNOMEDCT_US:53298000", "UMLS:C0018965" ], "is_a": [ "HP:0012211", "HP:0012614" ], "is_obsolete": "", "replace_id": "" }, "HP:0000791": { "name": [ "uric acid nephrolithiasis", "uric acid nephrolithiasis" ], "alt_id": [], "def": "The presence of uric acid-containing calculi (stones) in the kidneys.", "synonym": [ [ "uric acid stones", "uric acid stone" ], [ "uric acid urolithiasis", "uric acid urolithiasis" ] ], "xref": [ "SNOMEDCT_US:267441009", "UMLS:C0403719" ], "is_a": [ "HP:0000787" ], "is_obsolete": "", "replace_id": "" }, "HP:0000793": { "name": [ "membranoproliferative glomerulonephritis", "membranoproliferative glomerulonephritis" ], "alt_id": [], "def": "A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity", "synonym": [ [ "mesangiocapillary glomerulonephritis", "mesangiocapillary glomerulonephritis" ] ], "xref": [ "MSH:D015432", "SNOMEDCT_US:80321008", "UMLS:C0017662" ], "is_a": [ "HP:0000099" ], "is_obsolete": "", "replace_id": "" }, "HP:0000794": { "name": [ "iga deposition in the glomerulus", "iga deposition in the glomerulus" ], "alt_id": [], "def": "The presence of immunoglobulin A deposits in the glomerulus.", "synonym": [ [ "iga nephropathy", "iga nephropathy" ] ], "xref": [ "MSH:D005922", "SNOMEDCT_US:236407003", "SNOMEDCT_US:68779003", "UMLS:C0017661", "UMLS:C4025827" ], "is_a": [ "HP:0030949" ], "is_obsolete": "", "replace_id": "" }, "HP:0000795": { "name": [ "abnormality of the urethra", "abnormality of the urethra" ], "alt_id": [], "def": "An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.", "synonym": [ [ "urethra issue", "urethra issue" ] ], "xref": [ "UMLS:C4025826" ], "is_a": [ "HP:0000032", "HP:0010936" ], "is_obsolete": "", "replace_id": "" }, "HP:0000796": { "name": [ "urethral obstruction", "urethral obstruction" ], "alt_id": [], "def": "Obstruction of the flow of urine through the urethra.", "synonym": [], "xref": [ "MSH:D014524", "SNOMEDCT_US:95588004", "UMLS:C0041972" ], "is_a": [ "HP:0000795" ], "is_obsolete": "", "replace_id": "" }, "HP:0000798": { "name": [ "oligospermia", "oligospermia" ], "alt_id": [], "def": "Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.", "synonym": [ [ "low sperm count", "low sperm count" ] ], "xref": [ "MSH:D009845", "UMLS:C0028960" ], "is_a": [ "HP:0008669" ], "is_obsolete": "", "replace_id": "" }, "HP:0000799": { "name": [ "renal steatosis", "renal steatosis" ], "alt_id": [], "def": "Abnormal fat accumulation in the kidneys.", "synonym": [ [ "fatty kidney", "fatty kidney" ] ], "xref": [ "UMLS:C4021796" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0000800": { "name": [ "cystic renal dysplasia", "cystic renal dysplasia" ], "alt_id": [ "HP:0008737" ], "def": "", "synonym": [ [ "bilateral cystic dysplasia", "bilateral cystic dysplasia" ], [ "renal cystic dysplasia", "renal cystic dysplasia" ], [ "renal dysplasia , cystic", "renal dysplasia , cystic" ] ], "xref": [ "UMLS:C1834931" ], "is_a": [ "HP:0000107" ], "is_obsolete": "", "replace_id": "" }, "HP:0000802": { "name": [ "impotence", "impotence" ], "alt_id": [], "def": "Inability to develop or maintain an erection of the penis.", "synonym": [ [ "difficulty getting a full erection", "difficulty get a full erection" ], [ "difficulty getting an erection", "difficulty get an erection" ] ], "xref": [ "MSH:D007172", "SNOMEDCT_US:397803000", "UMLS:C0242350" ], "is_a": [ "HP:0100639" ], "is_obsolete": "", "replace_id": "" }, "HP:0000803": { "name": [ "renal cortical cysts", "renal cortical cyst" ], "alt_id": [], "def": "Cysts of the cortex of the kidney.", "synonym": [ [ "cortical cysts", "cortical cyst" ] ], "xref": [ "UMLS:C1969144" ], "is_a": [ "HP:0000107", "HP:0011035" ], "is_obsolete": "", "replace_id": "" }, "HP:0000804": { "name": [ "xanthine nephrolithiasis", "xanthine nephrolithiasis" ], "alt_id": [], "def": "The presence of xanthine-containing calculi (stones) in the kidneys.", "synonym": [ [ "urinary xanthine stones", "urinary xanthine stone" ], [ "xanthine stones", "xanthine stone" ] ], "xref": [ "UMLS:C1848431" ], "is_a": [ "HP:0000787" ], "is_obsolete": "", "replace_id": "" }, "HP:0000805": { "name": [ "enuresis", "enuresis" ], "alt_id": [], "def": "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.", "synonym": [], "xref": [ "MSH:D004775", "SNOMEDCT_US:8009008", "UMLS:C0014394" ], "is_a": [ "HP:0000009" ], "is_obsolete": "", "replace_id": "" }, "HP:0000807": { "name": [ "glandular hypospadias", "glandular hypospadias" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:204891000", "SNOMEDCT_US:429631000124104", "UMLS:C0452168" ], "is_a": [ "HP:0000047" ], "is_obsolete": "", "replace_id": "" }, "HP:0000808": { "name": [ "penoscrotal hypospadias", "penoscrotal hypospadias" ], "alt_id": [], "def": "A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.", "synonym": [], "xref": [ "SNOMEDCT_US:204889008", "UMLS:C0452147" ], "is_a": [ "HP:0000047" ], "is_obsolete": "", "replace_id": "" }, "HP:0000809": { "name": [ "urinary tract atresia", "urinary tract atresia" ], "alt_id": [], "def": "Congenital absence of the normal opening of a structure of the urinary tract.", "synonym": [], "xref": [ "UMLS:C1389003" ], "is_a": [ "HP:0000079" ], "is_obsolete": "", "replace_id": "" }, "HP:0000811": { "name": [ "abnormal external genitalia", "abnormal external genitalia" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal external genitalia", "abnormal external genitalia" ] ], "xref": [ "UMLS:C4025825" ], "is_a": [ "HP:0012243" ], "is_obsolete": "", "replace_id": "" }, "HP:0000812": { "name": [ "abnormal internal genitalia", "abnormal internal genitalia" ], "alt_id": [], "def": "An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).", "synonym": [ [ "abnormal internal genitalia", "abnormal internal genitalia" ] ], "xref": [ "UMLS:C4025824" ], "is_a": [ "HP:0012243" ], "is_obsolete": "", "replace_id": "" }, "HP:0000813": { "name": [ "bicornuate uterus", "bicornuate uterus" ], "alt_id": [ "HP:0008735" ], "def": "The presence of a bicornuate uterus.", "synonym": [ [ "heart shaped uterus", "heart shape uterus" ], [ "heart - shaped uterus", "heart - shape uterus" ], [ "uterus bicornis", "uterus bicornis" ] ], "xref": [ "SNOMEDCT_US:31401003", "UMLS:C0266387" ], "is_a": [ "HP:0031105" ], "is_obsolete": "", "replace_id": "" }, "HP:0000815": { "name": [ "hypergonadotropic hypogonadism", "hypergonadotropic hypogonadism" ], "alt_id": [ "HP:0008679" ], "def": "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.", "synonym": [ [ "hypergonadotrophic hypogonadism", "hypergonadotrophic hypogonadism" ], [ "primary hypogonadism", "primary hypogonadism" ] ], "xref": [ "MSH:D007006", "SNOMEDCT_US:370999003", "UMLS:C0948896" ], "is_a": [ "HP:0000135" ], "is_obsolete": "", "replace_id": "" }, "HP:0000816": { "name": [ "abnormality of krebs cycle metabolism", "abnormality of krebs cycle metabolism" ], "alt_id": [], "def": "An abnormality of the tricarboxylic acid cycle.", "synonym": [ [ "abnormality of citric acid cycle", "abnormality of citric acid cycle" ], [ "abnormality of the tricarboxylic cycle", "abnormality of the tricarboxylic cycle" ] ], "xref": [ "UMLS:C4021795" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0000817": { "name": [ "poor eye contact", "poor eye contact" ], "alt_id": [], "def": "Difficulty in looking at another person in the eye.", "synonym": [ [ "poor eye contact", "poor eye contact" ] ], "xref": [ "SNOMEDCT_US:412786000", "UMLS:C1445953" ], "is_a": [ "HP:0000735" ], "is_obsolete": "", "replace_id": "" }, "HP:0000818": { "name": [ "abnormality of the endocrine system", "abnormality of the endocrine system" ], "alt_id": [], "def": "An abnormality of the endocrine system.", "synonym": [ [ "endocrine system disease", "endocrine system disease" ] ], "xref": [ "MSH:D004700", "SNOMEDCT_US:362969004", "UMLS:C0014130", "UMLS:C4025823" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0000819": { "name": [ "diabetes mellitus", "diabetes mellitus" ], "alt_id": [ "HP:0004908", "HP:0008217", "HP:0008234", "HP:0008260" ], "def": "A group of abnormalities characterized by hyperglycemia and glucose intolerance.", "synonym": [], "xref": [ "MSH:D003920", "SNOMEDCT_US:73211009", "UMLS:C0011849" ], "is_a": [ "HP:0000818", "HP:0001952" ], "is_obsolete": "", "replace_id": "" }, "HP:0000820": { "name": [ "abnormality of the thyroid gland", "abnormality of the thyroid gland" ], "alt_id": [], "def": "An abnormality of the thyroid gland.", "synonym": [ [ "abnormality of the thyroid gland", "abnormality of the thyroid gland" ], [ "thyroid abnormality", "thyroid abnormality" ], [ "thyroid disease", "thyroid disease" ] ], "xref": [ "MSH:D013959", "SNOMEDCT_US:14304000", "UMLS:C0040128" ], "is_a": [ "HP:0000818" ], "is_obsolete": "", "replace_id": "" }, "HP:0000821": { "name": [ "hypothyroidism", "hypothyroidism" ], "alt_id": [ "HP:0003222", "HP:0008203" ], "def": "Deficiency of thyroid hormone.", "synonym": [ [ "low t4", "low t4" ], [ "underactive thyroid", "underactive thyroid" ] ], "xref": [ "MSH:D007037", "SNOMEDCT_US:40930008", "UMLS:C0020676" ], "is_a": [ "HP:0002926" ], "is_obsolete": "", "replace_id": "" }, "HP:0000822": { "name": [ "hypertension", "hypertension" ], "alt_id": [ "HP:0004949", "HP:0005126" ], "def": "The presence of chronic increased pressure in the systemic arterial system.", "synonym": [ [ "arterial hypertension", "arterial hypertension" ], [ "high blood pressure", "high blood pressure" ], [ "systemic hypertension", "systemic hypertension" ] ], "xref": [ "MSH:D006973", "SNOMEDCT_US:24184005", "SNOMEDCT_US:38341003", "UMLS:C0020538", "UMLS:C0497247" ], "is_a": [ "HP:0032263" ], "is_obsolete": "", "replace_id": "" }, "HP:0000823": { "name": [ "delayed puberty", "delay puberty" ], "alt_id": [ "HP:0008859", "HP:0010466", "HP:0010467" ], "def": "Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.", "synonym": [ [ "delayed pubertal development", "delay pubertal development" ], [ "delayed pubertal growth", "delay pubertal growth" ], [ "delayed puberty", "delay puberty" ], [ "pubertal delay", "pubertal delay" ] ], "xref": [ "MSH:D011628", "SNOMEDCT_US:123526007", "SNOMEDCT_US:400003000", "UMLS:C0034012" ], "is_a": [ "HP:0001510", "HP:0008373" ], "is_obsolete": "", "replace_id": "" }, "HP:0000824": { "name": [ "decreased response to growth hormone stimulation test", "decrease response to growth hormone stimulation test" ], "alt_id": [ "HP:0000861", "HP:0008195", "HP:0008206" ], "def": "Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.", "synonym": [ [ "growth hormone deficiency", "growth hormone deficiency" ], [ "somatotropin deficiency", "somatotropin deficiency" ] ], "xref": [ "SNOMEDCT_US:2109003", "UMLS:C3714796" ], "is_a": [ "HP:0000830", "HP:0032367" ], "is_obsolete": "", "replace_id": "" }, "HP:0000825": { "name": [ "hyperinsulinemic hypoglycemia", "hyperinsulinemic hypoglycemia" ], "alt_id": [], "def": "An increased concentration of insulin combined with a decreased concentration of glucose in the blood.", "synonym": [ [ "hyperinsulinaemic hypoglycaemia", "hyperinsulinaemic hypoglycaemia" ], [ "hyperinsulinemia hypoglycemia", "hyperinsulinemia hypoglycemia" ] ], "xref": [ "UMLS:C1864903" ], "is_a": [ "HP:0000842" ], "is_obsolete": "", "replace_id": "" }, "HP:0000826": { "name": [ "precocious puberty", "precocious puberty" ], "alt_id": [], "def": "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.", "synonym": [ [ "early onset of puberty", "early onset of puberty" ], [ "early puberty", "early puberty" ] ], "xref": [ "MSH:D011629", "SNOMEDCT_US:123527003", "SNOMEDCT_US:400179000", "UMLS:C0034013" ], "is_a": [ "HP:0100000" ], "is_obsolete": "", "replace_id": "" }, "HP:0000828": { "name": [ "abnormality of the parathyroid gland", "abnormality of the parathyroid gland" ], "alt_id": [], "def": "An abnormality of the parathyroid gland.", "synonym": [ [ "parathyroid disease", "parathyroid disease" ] ], "xref": [ "MSH:D010279", "SNOMEDCT_US:73132005", "UMLS:C0030517", "UMLS:C4025822" ], "is_a": [ "HP:0000818" ], "is_obsolete": "", "replace_id": "" }, "HP:0000829": { "name": [ "hypoparathyroidism", "hypoparathyroidism" ], "alt_id": [ "HP:0000856", "HP:0008292" ], "def": "A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.", "synonym": [ [ "decreased parathyroid hormone secretion", "decrease parathyroid hormone secretion" ], [ "low parathyroid hormone", "low parathyroid hormone" ] ], "xref": [ "MSH:D007011", "SNOMEDCT_US:36976004", "UMLS:C0020626" ], "is_a": [ "HP:0011767" ], "is_obsolete": "", "replace_id": "" }, "HP:0000830": { "name": [ "anterior hypopituitarism", "anterior hypopituitarism" ], "alt_id": [], "def": "A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.", "synonym": [], "xref": [ "UMLS:C4025821" ], "is_a": [ "HP:0040075" ], "is_obsolete": "", "replace_id": "" }, "HP:0000831": { "name": [ "insulin - resistant diabetes mellitus", "insulin - resistant diabetes mellitus" ], "alt_id": [], "def": "A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels.", "synonym": [ [ "insulin resistant diabetes", "insulin resistant diabetes" ], [ "insulin resistant diabetes mellitus", "insulin resistant diabetes mellitus" ], [ "insulin - resistant diabetes", "insulin - resistant diabetes" ] ], "xref": [ "UMLS:C0854110" ], "is_a": [ "HP:0000819", "HP:0000855" ], "is_obsolete": "", "replace_id": "" }, "HP:0000832": { "name": [ "primary hypothyroidism", "primary hypothyroidism" ], "alt_id": [], "def": "A type of hypothyroidism that results from a defect in the thyroid gland.", "synonym": [], "xref": [ "SNOMEDCT_US:111566002", "UMLS:C0700502" ], "is_a": [ "HP:0000821" ], "is_obsolete": "", "replace_id": "" }, "HP:0000833": { "name": [ "obsolete glucose intolerance", "obsolete glucose intolerance" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001952" }, "HP:0000834": { "name": [ "abnormality of the adrenal glands", "abnormality of the adrenal gland" ], "alt_id": [], "def": "Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.", "synonym": [ [ "adrenal abnormalities", "adrenal abnormality" ], [ "adrenal gland disease", "adrenal gland disease" ] ], "xref": [ "MSH:D000307", "SNOMEDCT_US:30171000", "UMLS:C0001621", "UMLS:C4021794" ], "is_a": [ "HP:0000818" ], "is_obsolete": "", "replace_id": "" }, "HP:0000835": { "name": [ "adrenal hypoplasia", "adrenal hypoplasia" ], "alt_id": [], "def": "Developmental hypoplasia of the adrenal glands.", "synonym": [ [ "adrenal gland hypoplasia", "adrenal gland hypoplasia" ], [ "hypoplastic adrenal glands", "hypoplastic adrenal gland" ], [ "small adrenal glands", "small adrenal gland" ], [ "underdeveloped adrenal glands", "underdeveloped adrenal gland" ] ], "xref": [ "MSH:C538429", "SNOMEDCT_US:237774001", "UMLS:C0342491", "UMLS:C1846223" ], "is_a": [ "HP:0011732" ], "is_obsolete": "", "replace_id": "" }, "HP:0000836": { "name": [ "hyperthyroidism", "hyperthyroidism" ], "alt_id": [ "HP:0008241" ], "def": "An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).", "synonym": [ [ "overactive thyroid", "overactive thyroid" ] ], "xref": [ "MSH:D006980", "SNOMEDCT_US:34486009", "UMLS:C0020550" ], "is_a": [ "HP:0002926" ], "is_obsolete": "", "replace_id": "" }, "HP:0000837": { "name": [ "increased circulating gonadotropin level", "increase circulate gonadotropin level" ], "alt_id": [ "HP:0030340" ], "def": "Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.", "synonym": [ [ "elevated gonadotropins", "elevate gonadotropin" ], [ "elevated serum gonadotropins", "elevate serum gonadotropin" ], [ "gonadotropin excess", "gonadotropin excess" ], [ "increased circulating gonadotropin level", "increase circulate gonadotropin level" ] ], "xref": [ "UMLS:C1862265" ], "is_a": [ "HP:0010514", "HP:0030338" ], "is_obsolete": "", "replace_id": "" }, "HP:0000839": { "name": [ "pituitary dwarfism", "pituitary dwarfism" ], "alt_id": [], "def": "A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.", "synonym": [], "xref": [ "MSH:D004393", "SNOMEDCT_US:367460001", "SNOMEDCT_US:7530009", "UMLS:C0013338" ], "is_a": [ "HP:0004322" ], "is_obsolete": "", "replace_id": "" }, "HP:0000840": { "name": [ "adrenogenital syndrome", "adrenogenital syndrome" ], "alt_id": [ "HP:0001921" ], "def": "Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.", "synonym": [], "xref": [ "MSH:D047808", "SNOMEDCT_US:237751000", "SNOMEDCT_US:267395000", "SNOMEDCT_US:271077003", "UMLS:C0302280" ], "is_a": [ "HP:0008373" ], "is_obsolete": "", "replace_id": "" }, "HP:0000841": { "name": [ "hyperactive renin - angiotensin system", "hyperactive renin - angiotensin system" ], "alt_id": [], "def": "An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.", "synonym": [ [ "increased plasma renin activity", "increase plasma renin activity" ] ], "xref": [ "UMLS:C1846345", "UMLS:C3150267" ], "is_a": [ "HP:0000847" ], "is_obsolete": "", "replace_id": "" }, "HP:0000842": { "name": [ "hyperinsulinemia", "hyperinsulinemia" ], "alt_id": [], "def": "An increased concentration of insulin in the blood.", "synonym": [ [ "elevated insulin level", "elevate insulin level" ] ], "xref": [ "MSH:D006946", "SNOMEDCT_US:83469008", "UMLS:C0020459" ], "is_a": [ "HP:0011014", "HP:0040215" ], "is_obsolete": "", "replace_id": "" }, "HP:0000843": { "name": [ "hyperparathyroidism", "hyperparathyroidism" ], "alt_id": [], "def": "Excessive production of parathyroid hormone (PTH) by the parathyroid glands.", "synonym": [ [ "elevated blood parathyroid hormone level", "elevate blood parathyroid hormone level" ] ], "xref": [ "MSH:D006961", "SNOMEDCT_US:66999008", "UMLS:C0020502" ], "is_a": [ "HP:0011767" ], "is_obsolete": "", "replace_id": "" }, "HP:0000845": { "name": [ "elevated circulating growth hormone concentration", "elevate circulate growth hormone concentration" ], "alt_id": [ "HP:0008856" ], "def": "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.", "synonym": [ [ "elevated circulating somatotropin concentration", "elevate circulate somatotropin concentration" ], [ "growth hormone excess", "growth hormone excess" ], [ "somatotropin excess", "somatotropin excess" ] ], "xref": [ "MSH:C531600", "MSH:D000172", "SNOMEDCT_US:74107003", "UMLS:C0001206", "UMLS:C0235986" ], "is_a": [ "HP:0010514", "HP:0032367" ], "is_obsolete": "", "replace_id": "" }, "HP:0000846": { "name": [ "adrenal insufficiency", "adrenal insufficiency" ], "alt_id": [ "HP:0000865", "HP:0008218" ], "def": "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.", "synonym": [ [ "hypoadrenalism", "hypoadrenalism" ] ], "xref": [ "MSH:D000309", "SNOMEDCT_US:111563005", "SNOMEDCT_US:237785004", "SNOMEDCT_US:386584007", "UMLS:C0001623" ], "is_a": [ "HP:0011733" ], "is_obsolete": "", "replace_id": "" }, "HP:0000847": { "name": [ "abnormality of renin - angiotensin system", "abnormality of renin - angiotensin system" ], "alt_id": [ "HP:0003350" ], "def": "An abnormality of the renin-angiotensin system.", "synonym": [ [ "abnormality of the renin - aldosterone axis", "abnormality of the renin - aldosterone axis" ] ], "xref": [ "UMLS:C4021793" ], "is_a": [ "HP:0000818" ], "is_obsolete": "", "replace_id": "" }, "HP:0000848": { "name": [ "increased circulating renin level", "increase circulate renin level" ], "alt_id": [ "HP:0003615" ], "def": "An increased level of renin in the blood.", "synonym": [ [ "elevated blood renin level", "elevate blood renin level" ], [ "elevated plasma renin", "elevate plasma renin" ], [ "hyperreninemia", "hyperreninemia" ], [ "increased plasma renin", "increase plasma renin" ], [ "increased serum renin", "increase serum renin" ] ], "xref": [ "UMLS:C0240783" ], "is_a": [ "HP:0040084" ], "is_obsolete": "", "replace_id": "" }, "HP:0000849": { "name": [ "adrenocortical abnormality", "adrenocortical abnormality" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025820" ], "is_a": [ "HP:0011732" ], "is_obsolete": "", "replace_id": "" }, "HP:0000851": { "name": [ "congenital hypothyroidism", "congenital hypothyroidism" ], "alt_id": [], "def": "A type of hypothyroidism with congenital onset.", "synonym": [ [ "hypothyroidism , congenital", "hypothyroidism , congenital" ], [ "underactive thyroid gland from birth", "underactive thyroid gland from birth" ] ], "xref": [ "MSH:D003409", "SNOMEDCT_US:190268003", "SNOMEDCT_US:217710005", "UMLS:C0010308" ], "is_a": [ "HP:0000821" ], "is_obsolete": "", "replace_id": "" }, "HP:0000852": { "name": [ "pseudohypoparathyroidism", "pseudohypoparathyroidism" ], "alt_id": [], "def": "A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.", "synonym": [], "xref": [ "MSH:D011547", "SNOMEDCT_US:58976002", "UMLS:C0033806" ], "is_a": [ "HP:0011767" ], "is_obsolete": "", "replace_id": "" }, "HP:0000853": { "name": [ "goiter", "goiter" ], "alt_id": [], "def": "An enlargement of the thyroid gland.", "synonym": [ [ "enlarged thyroid gland in neck", "enlarge thyroid gland in neck" ], [ "goitre", "goitre" ], [ "thyroid goiter", "thyroid goiter" ], [ "thyroid goitre", "thyroid goitre" ] ], "xref": [ "MSH:D006042", "SNOMEDCT_US:3716002", "UMLS:C0018021" ], "is_a": [ "HP:0011772" ], "is_obsolete": "", "replace_id": "" }, "HP:0000854": { "name": [ "thyroid adenoma", "thyroid adenoma" ], "alt_id": [], "def": "The presence of a adenoma of the thyroid gland.", "synonym": [], "xref": [ "MSH:D013964", "NCIT:C2855", "SNOMEDCT_US:255033000", "SNOMEDCT_US:255034006", "UMLS:C0151468" ], "is_a": [ "HP:0100031" ], "is_obsolete": "", "replace_id": "" }, "HP:0000855": { "name": [ "insulin resistance", "insulin resistance" ], "alt_id": [], "def": "Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.", "synonym": [ [ "body fails to respond to insulin", "body fail to respond to insulin" ] ], "xref": [ "MSH:D007333", "SNOMEDCT_US:48606007", "UMLS:C0021655" ], "is_a": [ "HP:0011014" ], "is_obsolete": "", "replace_id": "" }, "HP:0000857": { "name": [ "neonatal insulin - dependent diabetes mellitus", "neonatal insulin - dependent diabetes mellitus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3278636" ], "is_a": [ "HP:0000831" ], "is_obsolete": "", "replace_id": "" }, "HP:0000858": { "name": [ "irregular menstruation", "irregular menstruation" ], "alt_id": [], "def": "Abnormally high variation in the amount of time between periods.", "synonym": [ [ "irregular menses", "irregular menses" ], [ "irregular periods", "irregular period" ], [ "menstrual irregularities", "menstrual irregularity" ], [ "menstrual irregularity", "menstrual irregularity" ] ], "xref": [ "SNOMEDCT_US:80182007", "UMLS:C0156404" ], "is_a": [ "HP:0000140" ], "is_obsolete": "", "replace_id": "" }, "HP:0000859": { "name": [ "hyperaldosteronism", "hyperaldosteronism" ], "alt_id": [ "HP:0004318", "HP:0005975" ], "def": "Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.", "synonym": [ [ "elevated plasma aldosterone", "elevate plasma aldosterone" ], [ "increased aldosterone", "increase aldosterone" ], [ "increased aldosterone production", "increase aldosterone production" ], [ "mineralocorticoid excess", "mineralocorticoid excess" ] ], "xref": [ "MSH:D006929", "SNOMEDCT_US:88213004", "UMLS:C0020428" ], "is_a": [ "HP:0002717" ], "is_obsolete": "", "replace_id": "" }, "HP:0000860": { "name": [ "parathyroid hypoplasia", "parathyroid hypoplasia" ], "alt_id": [], "def": "Developmental hypoplasia of the parathyroid gland.", "synonym": [ [ "small parathyroid glands", "small parathyroid gland" ], [ "underdeveloped parathyroid glands", "underdeveloped parathyroid gland" ] ], "xref": [ "UMLS:C1389851" ], "is_a": [ "HP:0011768" ], "is_obsolete": "", "replace_id": "" }, "HP:0000863": { "name": [ "central diabetes insipidus", "central diabetes insipidus" ], "alt_id": [ "HP:0008210" ], "def": "A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.", "synonym": [ [ "neurohypophyseal diabetes insipidus", "neurohypophyseal diabetes insipidus" ] ], "xref": [ "MSH:D020790", "SNOMEDCT_US:45369008", "UMLS:C0687720" ], "is_a": [ "HP:0000873", "HP:0011751" ], "is_obsolete": "", "replace_id": "" }, "HP:0000864": { "name": [ "abnormality of the hypothalamus - pituitary axis", "abnormality of the hypothalamus - pituitary axis" ], "alt_id": [ "HP:0000838", "HP:0000844" ], "def": "Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.", "synonym": [], "xref": [ "UMLS:C4025819" ], "is_a": [ "HP:0000818" ], "is_obsolete": "", "replace_id": "" }, "HP:0000866": { "name": [ "euthyroid multinodular goiter", "euthyroid multinodular goiter" ], "alt_id": [], "def": "", "synonym": [ [ "euthyroid multinodular goitre", "euthyroid multinodular goitre" ] ], "xref": [ "UMLS:C1846034" ], "is_a": [ "HP:0009798" ], "is_obsolete": "", "replace_id": "" }, "HP:0000867": { "name": [ "secondary hyperparathyroidism", "secondary hyperparathyroidism" ], "alt_id": [], "def": "Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia.", "synonym": [], "xref": [ "MSH:D006962", "SNOMEDCT_US:91478007", "UMLS:C0020503" ], "is_a": [ "HP:0000843" ], "is_obsolete": "", "replace_id": "" }, "HP:0000868": { "name": [ "decreased fertility in females", "decrease fertility in female" ], "alt_id": [], "def": "", "synonym": [ [ "decreased fertility in females", "decrease fertility in female" ], [ "reduced fertility in females", "reduce fertility in female" ] ], "xref": [ "UMLS:C0151639" ], "is_a": [ "HP:0000144" ], "is_obsolete": "", "replace_id": "" }, "HP:0000869": { "name": [ "secondary amenorrhea", "secondary amenorrhea" ], "alt_id": [], "def": "", "synonym": [ [ "previous menstrual periods stop", "previous menstrual period stop" ] ], "xref": [ "SNOMEDCT_US:86030004", "UMLS:C0232940" ], "is_a": [ "HP:0000141" ], "is_obsolete": "", "replace_id": "" }, "HP:0000870": { "name": [ "increased circulating prolactin concentration", "increase circulate prolactin concentration" ], "alt_id": [], "def": "The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.", "synonym": [ [ "hyperprolactinaemia", "hyperprolactinaemia" ], [ "hyperprolactinemia", "hyperprolactinemia" ], [ "prolactin excess", "prolactin excess" ] ], "xref": [ "MSH:D006966", "SNOMEDCT_US:237662005", "UMLS:C0020514" ], "is_a": [ "HP:0010514" ], "is_obsolete": "", "replace_id": "" }, "HP:0000871": { "name": [ "panhypopituitarism", "panhypopituitarism" ], "alt_id": [], "def": "A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).", "synonym": [], "xref": [ "MSH:C580003", "SNOMEDCT_US:32390006", "UMLS:C0242343" ], "is_a": [ "HP:0000830" ], "is_obsolete": "", "replace_id": "" }, "HP:0000872": { "name": [ "hashimoto thyroiditis", "hashimoto thyroiditis" ], "alt_id": [], "def": "A chronic, autoimmune type of thyroiditis associated with hypothyroidism.", "synonym": [ [ "chronic lymphocytic thyroiditis", "chronic lymphocytic thyroiditis" ], [ "hashimoto 's thyroiditis", "hashimoto 's thyroiditis" ] ], "xref": [ "MSH:D050031", "SNOMEDCT_US:21983002", "UMLS:C0677607" ], "is_a": [ "HP:0002960", "HP:0100646" ], "is_obsolete": "", "replace_id": "" }, "HP:0000873": { "name": [ "diabetes insipidus", "diabetes insipidus" ], "alt_id": [], "def": "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).", "synonym": [], "xref": [ "MSH:D003919", "SNOMEDCT_US:15771004", "UMLS:C0011848" ], "is_a": [ "HP:0000818" ], "is_obsolete": "", "replace_id": "" }, "HP:0000875": { "name": [ "episodic hypertension", "episodic hypertension" ], "alt_id": [], "def": "", "synonym": [ [ "intermittent high blood pressure", "intermittent high blood pressure" ] ], "xref": [ "UMLS:C1857175" ], "is_a": [ "HP:0000822" ], "is_obsolete": "", "replace_id": "" }, "HP:0000876": { "name": [ "oligomenorrhea", "oligomenorrhea" ], "alt_id": [], "def": "Infrequent menses (less than 6 per year or more than 35 days between cycles).", "synonym": [ [ "light or infrequent menstrual periods", "light or infrequent menstrual period" ] ], "xref": [ "MSH:D009839", "SNOMEDCT_US:52073004", "UMLS:C0028949" ], "is_a": [ "HP:0000140" ], "is_obsolete": "", "replace_id": "" }, "HP:0000877": { "name": [ "insulin - resistant diabetes mellitus at puberty", "insulin - resistant diabetes mellitus at puberty" ], "alt_id": [], "def": "", "synonym": [ [ "insulin - resistant diabetes mellitus at puberty", "insulin - resistant diabetes mellitus at puberty" ] ], "xref": [ "UMLS:C1837792" ], "is_a": [ "HP:0000831" ], "is_obsolete": "", "replace_id": "" }, "HP:0000878": { "name": [ "11 pairs of ribs", "11 pair of rib" ], "alt_id": [], "def": "Presence of only 11 pairs of ribs.", "synonym": [ [ "11 pairs of ribs", "11 pair of rib" ] ], "xref": [ "UMLS:C1839731" ], "is_a": [ "HP:0000921" ], "is_obsolete": "", "replace_id": "" }, "HP:0000879": { "name": [ "short sternum", "short sternum" ], "alt_id": [], "def": "Decreased inferosuperior length of the sternum.", "synonym": [ [ "hypoplastic sternum", "hypoplastic sternum" ], [ "short sternum", "short sternum" ] ], "xref": [ "SNOMEDCT_US:298724002", "UMLS:C0575497", "UMLS:C4020883" ], "is_a": [ "HP:0006714" ], "is_obsolete": "", "replace_id": "" }, "HP:0000882": { "name": [ "hypoplastic scapulae", "hypoplastic scapula" ], "alt_id": [ "HP:0000906", "HP:0006616" ], "def": "Underdeveloped scapula.", "synonym": [ [ "hypoplastic scapula", "hypoplastic scapula" ], [ "scapular hypoplasia", "scapular hypoplasia" ], [ "short scapulae", "short scapula" ], [ "small scapula", "small scapula" ], [ "small scapulae", "small scapula" ], [ "small shoulder blade", "small shoulder blade" ] ], "xref": [ "UMLS:C1846434" ], "is_a": [ "HP:0006713" ], "is_obsolete": "", "replace_id": "" }, "HP:0000883": { "name": [ "thin ribs", "thin rib" ], "alt_id": [], "def": "Ribs with a reduced diameter.", "synonym": [ [ "slender ribs", "slender rib" ], [ "thin ribs", "thin rib" ] ], "xref": [ "SNOMEDCT_US:249697003", "UMLS:C0426818" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0000884": { "name": [ "prominent sternum", "prominent sternum" ], "alt_id": [], "def": "", "synonym": [ [ "prominent sternum", "prominent sternum" ], [ "sternal protrusion", "sternal protrusion" ] ], "xref": [ "UMLS:C1846433" ], "is_a": [ "HP:0000766" ], "is_obsolete": "", "replace_id": "" }, "HP:0000885": { "name": [ "broad ribs", "broad rib" ], "alt_id": [ "HP:0000903", "HP:0000950", "HP:0006667" ], "def": "Increased width of ribs", "synonym": [ [ "broad ribs", "broad rib" ], [ "wide ribs", "wide rib" ] ], "xref": [ "UMLS:C1848654" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0000886": { "name": [ "deformed rib cage", "deform rib cage" ], "alt_id": [], "def": "Malformation of the rib cage.", "synonym": [ [ "deformed rib cage", "deform rib cage" ] ], "xref": [ "UMLS:C1838659" ], "is_a": [ "HP:0001547" ], "is_obsolete": "", "replace_id": "" }, "HP:0000887": { "name": [ "cupped ribs", "cup rib" ], "alt_id": [ "HP:0006635" ], "def": "Wide, concave rib end.", "synonym": [ [ "cupped ribs", "cup rib" ], [ "rib cupping", "rib cup" ], [ "rib flaring", "rib flaring" ] ], "xref": [ "SNOMEDCT_US:249704008", "UMLS:C0426826", "UMLS:C1865039" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0000888": { "name": [ "horizontal ribs", "horizontal rib" ], "alt_id": [], "def": "A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.", "synonym": [ [ "horizontal ribs", "horizontal rib" ] ], "xref": [ "UMLS:C3806510" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0000889": { "name": [ "abnormal clavicle morphology", "abnormal clavicle morphology" ], "alt_id": [], "def": "Any abnormality of the clavicles (collar bones).", "synonym": [ [ "abnormal clavicles", "abnormal clavicle" ], [ "abnormal collarbone", "abnormal collarbone" ], [ "abnormality of the clavicle", "abnormality of the clavicle" ] ], "xref": [ "UMLS:C4021792" ], "is_a": [ "HP:0000765" ], "is_obsolete": "", "replace_id": "" }, "HP:0000890": { "name": [ "long clavicles", "long clavicle" ], "alt_id": [ "HP:0006592" ], "def": "Increased length of the clavicles.", "synonym": [ [ "elongated clavicles", "elongate clavicle" ], [ "long collarbone", "long collarbone" ] ], "xref": [ "SNOMEDCT_US:249687007", "UMLS:C0426808" ], "is_a": [ "HP:0000889" ], "is_obsolete": "", "replace_id": "" }, "HP:0000891": { "name": [ "cervical ribs", "cervical rib" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D057070", "SNOMEDCT_US:72535009", "UMLS:C0158779" ], "is_a": [ "HP:0005815" ], "is_obsolete": "", "replace_id": "" }, "HP:0000892": { "name": [ "bifid ribs", "bifid rib" ], "alt_id": [], "def": "A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.", "synonym": [ [ "cleft ribs", "cleft rib" ], [ "split ribs", "split rib" ] ], "xref": [ "UMLS:C4721788" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0000893": { "name": [ "bulging of the costochondral junction", "bulging of the costochondral junction" ], "alt_id": [], "def": "Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.", "synonym": [], "xref": [ "UMLS:C1848538" ], "is_a": [ "HP:0000766", "HP:0000919" ], "is_obsolete": "", "replace_id": "" }, "HP:0000894": { "name": [ "short clavicles", "short clavicle" ], "alt_id": [ "HP:0000898", "HP:0005698", "HP:0005902" ], "def": "Reduced length of the clavicles.", "synonym": [ [ "clavicular hypoplasia", "clavicular hypoplasia" ], [ "hypoplastic clavicles", "hypoplastic clavicle" ], [ "short collarbone", "short collarbone" ], [ "underdeveloped clavicles", "underdeveloped clavicle" ] ], "xref": [ "SNOMEDCT_US:93250003", "UMLS:C0426799" ], "is_a": [ "HP:0006710" ], "is_obsolete": "", "replace_id": "" }, "HP:0000895": { "name": [ "lateral clavicle hook", "lateral clavicle hook" ], "alt_id": [], "def": "An excessive upward convexity of the lateral clavicle.", "synonym": [ [ "handlebar clavicle", "handlebar clavicle" ], [ "hook - shaped clavicle", "hook - shaped clavicle" ], [ "hook - shaped collarbone", "hook - shape collarbone" ], [ "hooked clavicle", "hooked clavicle" ] ], "xref": [ "SNOMEDCT_US:249684000", "UMLS:C0426805" ], "is_a": [ "HP:0000889" ], "is_obsolete": "", "replace_id": "" }, "HP:0000896": { "name": [ "rib exostoses", "rib exostosis" ], "alt_id": [], "def": "Multiple circumscribed bony excrescences located in the ribs.", "synonym": [], "xref": [ "UMLS:C1835579" ], "is_a": [ "HP:0000772", "HP:0100777" ], "is_obsolete": "", "replace_id": "" }, "HP:0000897": { "name": [ "rachitic rosary", "rachitic rosary" ], "alt_id": [], "def": "A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary.", "synonym": [], "xref": [ "SNOMEDCT_US:15214001", "SNOMEDCT_US:249702007" ], "is_a": [ "HP:0000766", "HP:0000919" ], "is_obsolete": "", "replace_id": "" }, "HP:0000900": { "name": [ "thickened ribs", "thicken rib" ], "alt_id": [], "def": "Increased thickness (diameter) of ribs.", "synonym": [], "xref": [ "SNOMEDCT_US:249699000", "UMLS:C0426820" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0000902": { "name": [ "rib fusion", "rib fusion" ], "alt_id": [ "HP:0000880" ], "def": "Complete or partial merging of adjacent ribs.", "synonym": [ [ "fused ribs", "fuse rib" ], [ "rib fusion", "rib fusion" ] ], "xref": [ "UMLS:C1844749" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0000904": { "name": [ "flaring of rib cage", "flaring of rib cage" ], "alt_id": [ "HP:0006656" ], "def": "The presence of wide, concave anterior rib ends.", "synonym": [ [ "anterior flaring of ribs", "anterior flaring of rib" ], [ "flaring of rib cage", "flaring of rib cage" ] ], "xref": [ "UMLS:C1854780" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0000905": { "name": [ "progressive clavicular acroosteolysis", "progressive clavicular acroosteolysis" ], "alt_id": [], "def": "Progressive bone resorption in the distal part of the clavicle.", "synonym": [ [ "progressive acroosteolysis of the clavicle", "progressive acroosteolysis of the clavicle" ] ], "xref": [ "UMLS:C1837757" ], "is_a": [ "HP:0000889", "HP:0002797" ], "is_obsolete": "", "replace_id": "" }, "HP:0000907": { "name": [ "anterior rib cupping", "anterior rib cup" ], "alt_id": [ "HP:0006601" ], "def": "Wide, concave anterior rib end.", "synonym": [ [ "anterior cupping of ribs", "anterior cupping of rib" ], [ "anteriorly splayed ribs", "anteriorly splay rib" ] ], "xref": [ "UMLS:C1846154" ], "is_a": [ "HP:0000887" ], "is_obsolete": "", "replace_id": "" }, "HP:0000910": { "name": [ "wide - cupped costochondral junctions", "wide - cupped costochondral junction" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1861213" ], "is_a": [ "HP:0000919" ], "is_obsolete": "", "replace_id": "" }, "HP:0000911": { "name": [ "flat glenoid fossa", "flat glenoid fossa" ], "alt_id": [], "def": "Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.", "synonym": [], "xref": [ "UMLS:C1855177" ], "is_a": [ "HP:0011912" ], "is_obsolete": "", "replace_id": "" }, "HP:0000912": { "name": [ "sprengel anomaly", "sprengel anomaly" ], "alt_id": [ "HP:0006621" ], "def": "A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).", "synonym": [ [ "congenital , upward displacement of the scapula", "congenital , upward displacement of the scapula" ], [ "high scapula", "high scapula" ], [ "high shoulder blade", "high shoulder blade" ], [ "sprengel deformity", "sprengel deformity" ] ], "xref": [ "MEDDRA:10010455 \"Congenital elevation of scapula\"", "MSH:C535802", "SNOMEDCT_US:79120002", "UMLS:C0152438" ], "is_a": [ "HP:0000782" ], "is_obsolete": "", "replace_id": "" }, "HP:0000913": { "name": [ "posterior rib fusion", "posterior rib fusion" ], "alt_id": [], "def": "Complete or partial merging of the posterior part of adjacent ribs.", "synonym": [], "xref": [ "UMLS:C1842084" ], "is_a": [ "HP:0000902" ], "is_obsolete": "", "replace_id": "" }, "HP:0000914": { "name": [ "shield chest", "shield chest" ], "alt_id": [], "def": "A broad chest.", "synonym": [ [ "broad chest", "broad chest" ], [ "shield chest", "shield chest" ] ], "xref": [ "UMLS:C1834124", "UMLS:C1839248" ], "is_a": [ "HP:0100625" ], "is_obsolete": "", "replace_id": "" }, "HP:0000915": { "name": [ "pectus excavatum of inferior sternum", "pectus excavatum of inferior sternum" ], "alt_id": [], "def": "Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum.", "synonym": [ [ "pectus excavatum inferiorly", "pectus excavatum inferiorly" ] ], "xref": [ "UMLS:C1864796" ], "is_a": [ "HP:0000767" ], "is_obsolete": "", "replace_id": "" }, "HP:0000916": { "name": [ "broad clavicles", "broad clavicle" ], "alt_id": [ "HP:0006651" ], "def": "Increased width (cross-sectional diameter) of the clavicles.", "synonym": [ [ "broad collarbone", "broad collarbone" ] ], "xref": [ "SNOMEDCT_US:249680009", "UMLS:C0426801" ], "is_a": [ "HP:0000889" ], "is_obsolete": "", "replace_id": "" }, "HP:0000917": { "name": [ "superior pectus carinatum", "superior pectus carinatum" ], "alt_id": [], "def": "Pectus carinatum affecting primarily the superior part of the sternum.", "synonym": [ [ "pectus carinatum superiorly", "pectus carinatum superiorly" ] ], "xref": [ "UMLS:C1864795" ], "is_a": [ "HP:0000768" ], "is_obsolete": "", "replace_id": "" }, "HP:0000918": { "name": [ "scapular exostoses", "scapular exostosis" ], "alt_id": [], "def": "The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.", "synonym": [ [ "scapulae exostoses", "scapula exostosis" ], [ "shoulder bone exostoes", "shoulder bone exostoes" ] ], "xref": [ "UMLS:C1851415" ], "is_a": [ "HP:0000782", "HP:0100777" ], "is_obsolete": "", "replace_id": "" }, "HP:0000919": { "name": [ "abnormality of the costochondral junction", "abnormality of the costochondral junction" ], "alt_id": [], "def": "Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.", "synonym": [ [ "costochondral juctions abnormal", "costochondral juctions abnormal" ] ], "xref": [ "UMLS:C4021791" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0000920": { "name": [ "enlargement of the costochondral junction", "enlargement of the costochondral junction" ], "alt_id": [ "HP:0006620" ], "def": "Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.", "synonym": [ [ "costochondral thickening", "costochondral thickening" ], [ "enlarged costochondral junctions", "enlarged costochondral junction" ], [ "prominent costochondral junction", "prominent costochondral junction" ], [ "wide costochondral junctions", "wide costochondral junction" ], [ "widened costochondral junction", "widen costochondral junction" ] ], "xref": [ "UMLS:C1857180" ], "is_a": [ "HP:0000919" ], "is_obsolete": "", "replace_id": "" }, "HP:0000921": { "name": [ "missing ribs", "miss rib" ], "alt_id": [ "HP:0000881", "HP:0006627" ], "def": "A developmental anomaly with absence of one or more ribs.", "synonym": [ [ "absent ribs", "absent rib" ], [ "decreased rib number", "decrease rib number" ], [ "missing ribs", "miss rib" ] ], "xref": [ "SNOMEDCT_US:249695006", "UMLS:C0426816" ], "is_a": [ "HP:0006712" ], "is_obsolete": "", "replace_id": "" }, "HP:0000922": { "name": [ "posterior rib cupping", "posterior rib cup" ], "alt_id": [ "HP:0006622" ], "def": "Wide, concave posterior rib end.", "synonym": [ [ "anterior and posterior rib cupping", "anterior and posterior rib cup" ] ], "xref": [ "UMLS:C1837483" ], "is_a": [ "HP:0000887" ], "is_obsolete": "", "replace_id": "" }, "HP:0000923": { "name": [ "beaded ribs", "bead rib" ], "alt_id": [], "def": "The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage.", "synonym": [], "xref": [ "UMLS:C0426824" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0000924": { "name": [ "abnormality of the skeletal system", "abnormality of the skeletal system" ], "alt_id": [], "def": "An abnormality of the skeletal system.", "synonym": [ [ "abnormality of the skeletal system", "abnormality of the skeletal system" ], [ "skeletal abnormalities", "skeletal abnormality" ], [ "skeletal anomalies", "skeletal anomaly" ] ], "xref": [ "UMLS:C4021790" ], "is_a": [ "HP:0033127" ], "is_obsolete": "", "replace_id": "" }, "HP:0000925": { "name": [ "abnormality of the vertebral column", "abnormality of the vertebral column" ], "alt_id": [], "def": "Any abnormality of the vertebral column.", "synonym": [ [ "abnormal spine", "abnormal spine" ], [ "abnormal vertebral column", "abnormal vertebral column" ], [ "abnormality of the backbone", "abnormality of the backbone" ], [ "abnormality of the spine", "abnormality of the spine" ], [ "abnormality of the vertebral column", "abnormality of the vertebral column" ] ], "xref": [ "UMLS:C4020882", "UMLS:C4021789" ], "is_a": [ "HP:0009121" ], "is_obsolete": "", "replace_id": "" }, "HP:0000926": { "name": [ "platyspondyly", "platyspondyly" ], "alt_id": [ "HP:0002940", "HP:0003421", "HP:0004595", "HP:0004623", "HP:0004627", "HP:0005123", "HP:0005644", "HP:0008466" ], "def": "A flattened vertebral body shape with reduced distance between the vertebral endplates.", "synonym": [ [ "flat vertebral bodies", "flat vertebral body" ], [ "flattened vertebrae", "flatten vertebra" ], [ "flattened vertebral bodies", "flatten vertebral body" ] ], "xref": [ "UMLS:C1844704" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0000927": { "name": [ "abnormality of skeletal maturation", "abnormality of skeletal maturation" ], "alt_id": [], "def": "The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.", "synonym": [ [ "abnormality of skeletal maturation", "abnormality of skeletal maturation" ] ], "xref": [ "UMLS:C4025818" ], "is_a": [ "HP:0011843" ], "is_obsolete": "", "replace_id": "" }, "HP:0000929": { "name": [ "abnormal skull morphology", "abnormal skull morphology" ], "alt_id": [], "def": "An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.", "synonym": [ [ "abnormality of the skull", "abnormality of the skull" ], [ "abnormality of the skull bones", "abnormality of the skull bone" ] ], "xref": [ "UMLS:C0235942" ], "is_a": [ "HP:0000234", "HP:0009121" ], "is_obsolete": "", "replace_id": "" }, "HP:0000930": { "name": [ "elevated imprint of the transverse sinuses", "elevate imprint of the transverse sinus" ], "alt_id": [], "def": "", "synonym": [ [ "elevated imprint of occipital bone over the transverse sinuses", "elevate imprint of occipital bone over the transverse sinus" ], [ "elevated imprint of posterior skull bones over the transverse sinuses", "elevate imprint of posterior skull bone over the transverse sinus" ], [ "thinning and bulging of occipital bone over the transverse sinuses", "thinning and bulging of occipital bone over the transverse sinus" ], [ "thinning and bulging of posterior skull bones over the transverse sinuses", "thinning and bulging of posterior skull bone over the transverse sinus" ] ], "xref": [ "UMLS:C4025817" ], "is_a": [ "HP:0002693" ], "is_obsolete": "", "replace_id": "" }, "HP:0000931": { "name": [ "thinning and bulging of the posterior fossa bones", "thinning and bulging of the posterior fossa bone" ], "alt_id": [], "def": "", "synonym": [ [ "thinning and bulging of occipital bone of skull", "thinning and bulging of occipital bone of skull" ], [ "thinning and bulging of posterior fossa bones", "thinning and bulging of posterior fossa bone" ], [ "thinning and bulging of posterior skull bones", "thinning and bulging of posterior skull bone" ] ], "xref": [ "UMLS:C4021788", "UMLS:C4280608" ], "is_a": [ "HP:0000932" ], "is_obsolete": "", "replace_id": "" }, "HP:0000932": { "name": [ "abnormal posterior cranial fossa morphology", "abnormal posterior cranial fossa morphology" ], "alt_id": [ "HP:0007306" ], "def": "An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.", "synonym": [ [ "abnormality of the posterior cranial fossa", "abnormality of the posterior cranial fossa" ], [ "abnormality of the posterior fossa", "abnormality of the posterior fossa" ], [ "posterior fossa anomaly", "posterior fossa anomaly" ] ], "xref": [ "UMLS:C3280768" ], "is_a": [ "HP:0002693" ], "is_obsolete": "", "replace_id": "" }, "HP:0000933": { "name": [ "posterior fossa cyst at the fourth ventricle", "posterior fossa cyst at the fourth ventricle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025816" ], "is_a": [ "HP:0007109", "HP:0007291" ], "is_obsolete": "", "replace_id": "" }, "HP:0000934": { "name": [ "chondrocalcinosis", "chondrocalcinosis" ], "alt_id": [], "def": "Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .", "synonym": [ [ "calcium deposits in joints", "calcium deposit in joint" ] ], "xref": [ "MSH:D002805", "SNOMEDCT_US:201637001", "SNOMEDCT_US:239832006", "SNOMEDCT_US:239838005", "UMLS:C0553730" ], "is_a": [ "HP:0001367", "HP:0010766", "HP:0100685" ], "is_obsolete": "", "replace_id": "" }, "HP:0000935": { "name": [ "thickened cortex of long bones", "thicken cortex of long bone" ], "alt_id": [], "def": "Abnormal thickening of the cortex of long bones.", "synonym": [ [ "broad cortex of long bones", "broad cortex of long bone" ], [ "cortical thickening of the long bones", "cortical thickening of the long bone" ], [ "thickened cortices of long bones", "thickened cortex of long bone" ] ], "xref": [ "UMLS:C1840418" ], "is_a": [ "HP:0011314", "HP:0100039" ], "is_obsolete": "", "replace_id": "" }, "HP:0000938": { "name": [ "osteopenia", "osteopenia" ], "alt_id": [ "HP:0002768", "HP:0002799", "HP:0002800" ], "def": "Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.", "synonym": [ [ "generalised osteopenia", "generalise osteopenia" ], [ "generalized osteopenia", "generalize osteopenia" ], [ "osteopaenia", "osteopaenia" ] ], "xref": [ "MSH:D001851", "SNOMEDCT_US:312894000", "SNOMEDCT_US:78441005", "UMLS:C0029453", "UMLS:C0747078" ], "is_a": [ "HP:0004349" ], "is_obsolete": "", "replace_id": "" }, "HP:0000939": { "name": [ "osteoporosis", "osteoporosis" ], "alt_id": [ "HP:0002774" ], "def": "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).", "synonym": [], "xref": [ "MSH:D010024", "SNOMEDCT_US:64859006", "UMLS:C0029456" ], "is_a": [ "HP:0004349" ], "is_obsolete": "", "replace_id": "" }, "HP:0000940": { "name": [ "abnormal diaphysis morphology", "abnormal diaphysis morphology" ], "alt_id": [ "HP:0006504" ], "def": "An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.", "synonym": [ [ "abnormal shape of shaft of long bone", "abnormal shape of shaft of long bone" ], [ "abnormality involving the diaphyses of the limbs", "abnormality involve the diaphysis of the limb" ], [ "abnormality of shaft of long bone of the limbs", "abnormality of shaft of long bone of the limb" ], [ "abnormality of the diaphyses", "abnormality of the diaphysis" ], [ "anomaly of the limb diaphyses", "anomaly of the limb diaphysis" ], [ "anomaly of the limb diaphyses morphology", "anomaly of the limb diaphyses morphology" ] ], "xref": [ "UMLS:C4021787" ], "is_a": [ "HP:0002813", "HP:0011314" ], "is_obsolete": "", "replace_id": "" }, "HP:0000941": { "name": [ "short diaphyses", "short diaphysis" ], "alt_id": [], "def": "", "synonym": [ [ "short shaft of long bone", "short shaft of long bone" ] ], "xref": [ "UMLS:C4025815" ], "is_a": [ "HP:0000940" ], "is_obsolete": "", "replace_id": "" }, "HP:0000943": { "name": [ "dysostosis multiplex", "dysostosis multiplex" ], "alt_id": [ "HP:0002760" ], "def": "", "synonym": [], "xref": [ "MSH:D008059", "SNOMEDCT_US:254069004", "SNOMEDCT_US:65327002", "UMLS:C0086795" ], "is_a": [ "HP:0011842" ], "is_obsolete": "", "replace_id": "" }, "HP:0000944": { "name": [ "abnormality of the metaphysis", "abnormality of the metaphysis" ], "alt_id": [ "HP:0006506" ], "def": "An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.", "synonym": [ [ "abnormality of the wide portion of a long bone", "abnormality of the wide portion of a long bone" ] ], "xref": [ "UMLS:C4025814" ], "is_a": [ "HP:0002813", "HP:0011314" ], "is_obsolete": "", "replace_id": "" }, "HP:0000946": { "name": [ "hypoplastic ilia", "hypoplastic ilium" ], "alt_id": [ "HP:0003176", "HP:0003178" ], "def": "Underdevelopment of the ilium.", "synonym": [ [ "short and small iliac bones", "short and small iliac bone" ], [ "small iliac bones", "small iliac bone" ], [ "small wings of the pelvic girdle", "small wing of the pelvic girdle" ] ], "xref": [ "UMLS:C1861218", "UMLS:C4280607" ], "is_a": [ "HP:0002867" ], "is_obsolete": "", "replace_id": "" }, "HP:0000947": { "name": [ "dumbbell - shaped long bone", "dumbbell - shape long bone" ], "alt_id": [ "HP:0005061", "HP:0005071", "HP:0005075" ], "def": "An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.", "synonym": [ [ "dumbbell widening of long bone metaphyses", "dumbbell widening of long bone metaphyses" ], [ "dumbbell - shaped long bone", "dumbbell - shape long bone" ] ], "xref": [ "UMLS:C2749582" ], "is_a": [ "HP:0003016" ], "is_obsolete": "", "replace_id": "" }, "HP:0000951": { "name": [ "abnormality of the skin", "abnormality of the skin" ], "alt_id": [ "HP:0001478", "HP:0001479", "HP:0005591", "HP:0006736", "HP:0007415", "HP:0007580" ], "def": "An abnormality of the skin.", "synonym": [ [ "abnormality of the skin", "abnormality of the skin" ], [ "dermatopathy", "dermatopathy" ], [ "dermopathy", "dermopathy" ], [ "skin abnormality", "skin abnormality" ] ], "xref": [ "MSH:D012868", "MSH:D012871", "SNOMEDCT_US:199879009", "SNOMEDCT_US:95320005", "UMLS:C0037268", "UMLS:C0037274" ], "is_a": [ "HP:0001574" ], "is_obsolete": "", "replace_id": "" }, "HP:0000952": { "name": [ "jaundice", "jaundice" ], "alt_id": [], "def": "Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.", "synonym": [ [ "icterus", "icterus" ], [ "jaundice", "jaundice" ], [ "yellow skin", "yellow skin" ], [ "yellowing of the skin", "yellowing of the skin" ] ], "xref": [ "MSH:D007565", "SNOMEDCT_US:18165001", "UMLS:C0022346" ], "is_a": [ "HP:0001005", "HP:0001396" ], "is_obsolete": "", "replace_id": "" }, "HP:0000953": { "name": [ "hyperpigmentation of the skin", "hyperpigmentation of the skin" ], "alt_id": [ "HP:0007527" ], "def": "A darkening of the skin related to an increase in melanin production and deposition.", "synonym": [ [ "cutaneous hyperpigmentation", "cutaneous hyperpigmentation" ], [ "hyperpigmented lesion", "hyperpigmented lesion" ], [ "increased skin pigmentation", "increase skin pigmentation" ], [ "melanoderma", "melanoderma" ], [ "melanodermia", "melanodermia" ], [ "patchy darkened skin", "patchy darken skin" ], [ "skin hyperpigmentation", "skin hyperpigmentation" ] ], "xref": [ "MSH:D017495", "SNOMEDCT_US:4830009", "SNOMEDCT_US:49765009", "UMLS:C0162834" ], "is_a": [ "HP:0001000" ], "is_obsolete": "", "replace_id": "" }, "HP:0000954": { "name": [ "single transverse palmar crease", "single transverse palmar crease" ], "alt_id": [ "HP:0006214" ], "def": "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.", "synonym": [ [ "simian crease", "simian crease" ], [ "simian creases", "simian crease" ], [ "simian line", "simian line" ], [ "single flexion crease", "single flexion crease" ], [ "single palmar crease", "single palmar crease" ], [ "single palmar creases", "single palmar crease" ], [ "single transverse palmar creases", "single transverse palmar crease" ], [ "transverse palmar crease", "transverse palmar crease" ] ], "xref": [ "SNOMEDCT_US:248409006", "UMLS:C0424731" ], "is_a": [ "HP:0010490" ], "is_obsolete": "", "replace_id": "" }, "HP:0000956": { "name": [ "acanthosis nigricans", "acanthosis nigricans" ], "alt_id": [ "HP:0007498", "HP:0007518", "HP:0007591" ], "def": "A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.", "synonym": [ [ "darkened and thickened skin", "darken and thicken skin" ], [ "keratosis nigricans", "keratosis nigricans" ] ], "xref": [ "MSH:D000052", "SNOMEDCT_US:402599005", "SNOMEDCT_US:72129000", "UMLS:C0000889" ], "is_a": [ "HP:0011368" ], "is_obsolete": "", "replace_id": "" }, "HP:0000957": { "name": [ "cafe - au - lait spot", "cafe - au - lait spot" ], "alt_id": [ "HP:0005601", "HP:0007454" ], "def": "Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.", "synonym": [ [ "birthmark", "birthmark" ], [ "cafe au lait spots", "cafe au lait spot" ], [ "cafe - au - lait macule", "cafe - au - lait macule" ], [ "cafe - au - lait macules", "cafe - au - lait macule" ], [ "cafe - au - lait spots", "cafe - au - lait spot" ], [ "flat light - brown mark on skin", "flat light - brown mark on skin" ] ], "xref": [ "MSH:D019080", "SNOMEDCT_US:201281002", "SNOMEDCT_US:51089004", "UMLS:C0221263", "UMLS:C0265974" ], "is_a": [ "HP:0001034" ], "is_obsolete": "", "replace_id": "" }, "HP:0000958": { "name": [ "dry skin", "dry skin" ], "alt_id": [], "def": "Skin characterized by the lack of natural or normal moisture.", "synonym": [ [ "dry skin", "dry skin" ], [ "xerosis", "xerosis" ] ], "xref": [ "MEDDRA:10048222 \"Xerosis\"", "SNOMEDCT_US:16386004", "UMLS:C0151908", "UMLS:C0259817" ], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0000960": { "name": [ "sacral dimple", "sacral dimple" ], "alt_id": [], "def": "A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.", "synonym": [ [ "pilonidal dimple", "pilonidal dimple" ], [ "spinal dimple", "spinal dimple" ] ], "xref": [ "SNOMEDCT_US:249729002", "SNOMEDCT_US:311897005", "UMLS:C0426848" ], "is_a": [ "HP:0010767", "HP:0010781" ], "is_obsolete": "", "replace_id": "" }, "HP:0000961": { "name": [ "cyanosis", "cyanosis" ], "alt_id": [], "def": "Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.", "synonym": [ [ "blue discoloration of the skin", "blue discoloration of the skin" ] ], "xref": [ "MSH:D003490", "SNOMEDCT_US:119419001", "SNOMEDCT_US:3415004", "UMLS:C0010520" ], "is_a": [ "HP:0001005" ], "is_obsolete": "", "replace_id": "" }, "HP:0000962": { "name": [ "hyperkeratosis", "hyperkeratosis" ], "alt_id": [ "HP:0007523" ], "def": "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.", "synonym": [], "xref": [ "MEDDRA:10020649 \"Hyperkeratosis\"", "SNOMEDCT_US:26996000", "SNOMEDCT_US:396228006", "SNOMEDCT_US:399955009", "UMLS:C0870082" ], "is_a": [ "HP:0011368" ], "is_obsolete": "", "replace_id": "" }, "HP:0000963": { "name": [ "thin skin", "thin skin" ], "alt_id": [ "HP:0001020" ], "def": "Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.", "synonym": [ [ "thin skin", "thin skin" ] ], "xref": [ "SNOMEDCT_US:277797007", "UMLS:C0423757" ], "is_a": [ "HP:0008065" ], "is_obsolete": "", "replace_id": "" }, "HP:0000964": { "name": [ "eczema", "eczema" ], "alt_id": [ "HP:0001481" ], "def": "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.", "synonym": [ [ "eczema", "eczema" ] ], "xref": [ "MSH:D004485", "SNOMEDCT_US:281104002", "SNOMEDCT_US:43116000", "UMLS:C0013595" ], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0000965": { "name": [ "cutis marmorata", "cutis marmorata" ], "alt_id": [ "HP:0001037" ], "def": "A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.", "synonym": [], "xref": [ "UMLS:C0263401" ], "is_a": [ "HP:0011276" ], "is_obsolete": "", "replace_id": "" }, "HP:0000966": { "name": [ "hypohidrosis", "hypohidrosis" ], "alt_id": [ "HP:0007551", "HP:0007571" ], "def": "Abnormally diminished capacity to sweat.", "synonym": [ [ "decreased ability to sweat", "decrease ability to sweat" ], [ "decreased sweating", "decrease sweating" ], [ "inadequate sweating", "inadequate sweating" ], [ "oligohidrosis", "oligohidrosis" ], [ "sweating , decreased", "sweating , decrease" ] ], "xref": [ "MEDDRA:10021013 \"Hypohidrosis\"", "MSH:D007007", "SNOMEDCT_US:45004005", "UMLS:C0020620" ], "is_a": [ "HP:0007550" ], "is_obsolete": "", "replace_id": "" }, "HP:0000967": { "name": [ "petechiae", "petechia" ], "alt_id": [], "def": "Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.", "synonym": [], "xref": [ "MEDDRA:10034754 \"Petechiae\"", "MSH:D011693", "SNOMEDCT_US:271813007", "SNOMEDCT_US:50091001", "UMLS:C0031256" ], "is_a": [ "HP:0031365" ], "is_obsolete": "", "replace_id": "" }, "HP:0000968": { "name": [ "ectodermal dysplasia", "ectodermal dysplasia" ], "alt_id": [ "HP:0007615" ], "def": "Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.", "synonym": [], "xref": [ "MSH:D004476", "SNOMEDCT_US:254154003", "SNOMEDCT_US:8654005", "UMLS:C0013575" ], "is_a": [ "HP:0011354" ], "is_obsolete": "", "replace_id": "" }, "HP:0000969": { "name": [ "edema", "edema" ], "alt_id": [ "HP:0000990" ], "def": "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.", "synonym": [ [ "dropsy", "dropsy" ], [ "fluid retention", "fluid retention" ], [ "hydrops", "hydrops" ], [ "oedema", "oedema" ], [ "water retention", "water retention" ] ], "xref": [ "MSH:D004487", "SNOMEDCT_US:20741006", "SNOMEDCT_US:267038008", "SNOMEDCT_US:423666004", "SNOMEDCT_US:79654002", "UMLS:C0013604" ], "is_a": [ "HP:0011032" ], "is_obsolete": "", "replace_id": "" }, "HP:0000970": { "name": [ "anhidrosis", "anhidrosis" ], "alt_id": [], "def": "Inability to sweat.", "synonym": [ [ "anhydrosis", "anhydrosis" ], [ "lack of sweating", "lack of sweat" ], [ "sudomotor dysfunction", "sudomotor dysfunction" ], [ "sweating dysfunction", "sweat dysfunction" ] ], "xref": [ "MEDDRA:10002512 \"Anhidrosis\"", "MSH:D007007", "SNOMEDCT_US:14662005", "SNOMEDCT_US:39659002", "UMLS:C0003028" ], "is_a": [ "HP:0025276" ], "is_obsolete": "", "replace_id": "" }, "HP:0000971": { "name": [ "abnormal sweat gland morphology", "abnormal sweat gland morphology" ], "alt_id": [], "def": "Any structural abnormality of the sweat gland.", "synonym": [ [ "abnormalities of sweating", "abnormality of sweat" ], [ "abnormality of the sweat gland", "abnormality of the sweat gland" ], [ "sweat gland disease", "sweat gland disease" ] ], "xref": [ "MSH:D013543", "SNOMEDCT_US:88232005", "UMLS:C0038986", "UMLS:C0262643", "UMLS:C4020881" ], "is_a": [ "HP:0011138" ], "is_obsolete": "", "replace_id": "" }, "HP:0000972": { "name": [ "palmoplantar hyperkeratosis", "palmoplantar hyperkeratosis" ], "alt_id": [], "def": "Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.", "synonym": [ [ "hyperkeratosis of palms and soles", "hyperkeratosis of palm and sol" ], [ "hyperkeratosis of the palms and soles", "hyperkeratosis of the palm and sol" ], [ "palmoplantar keratoses", "palmoplantar keratoses" ], [ "palmoplantar keratosis", "palmoplantar keratosis" ], [ "thick palms and soles", "thick palm and sol" ], [ "thickened palms and soles", "thicken palm and sol" ], [ "thickening of the outer layer of the skin of the palms and soles", "thickening of the outer layer of the skin of the palm and sol" ] ], "xref": [ "MSH:D007645", "SNOMEDCT_US:706885006", "UMLS:C0022596" ], "is_a": [ "HP:0007556", "HP:0010765" ], "is_obsolete": "", "replace_id": "" }, "HP:0000973": { "name": [ "cutis laxa", "cutis laxa" ], "alt_id": [], "def": "Wrinkled, redundant, inelastic and sagging skin.", "synonym": [ [ "chalazoderma", "chalazoderma" ], [ "cutaneous laxity", "cutaneous laxity" ], [ "dermatochalasia", "dermatochalasia" ], [ "dermatomegaly", "dermatomegaly" ], [ "elastolysis", "elastolysis" ], [ "generalised elastolysis", "generalise elastolysis" ], [ "generalized elastolysis", "generalize elastolysis" ], [ "hanging skin", "hang skin" ], [ "hypoelastic skin", "hypoelastic skin" ], [ "inelastic skin", "inelastic skin" ], [ "lax skin", "lax skin" ], [ "loose and inelastic skin", "loose and inelastic skin" ], [ "loose skin", "loose skin" ], [ "skin laxity", "skin laxity" ] ], "xref": [ "MSH:C531660", "MSH:D003483", "SNOMEDCT_US:58588007", "UMLS:C0010495", "UMLS:C2930812", "UMLS:C4280606" ], "is_a": [ "HP:0008067" ], "is_obsolete": "", "replace_id": "" }, "HP:0000974": { "name": [ "hyperextensible skin", "hyperextensible skin" ], "alt_id": [ "HP:0007389", "HP:0007493", "HP:0007578" ], "def": "A condition in which the skin can be stretched beyond normal, and then returns to its initial position.", "synonym": [ [ "hyperelastic skin", "hyperelastic skin" ], [ "skin hyperelasticity", "skin hyperelasticity" ], [ "skin hyperextensibility", "skin hyperextensibility" ], [ "stretchable skin", "stretchable skin" ] ], "xref": [ "UMLS:C0241074" ], "is_a": [ "HP:0008067" ], "is_obsolete": "", "replace_id": "" }, "HP:0000975": { "name": [ "hyperhidrosis", "hyperhidrosis" ], "alt_id": [ "HP:0001011", "HP:0001064", "HP:0007424" ], "def": "Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.", "synonym": [ [ "diaphoresis", "diaphoresis" ], [ "excessive sweating", "excessive sweating" ], [ "increased sweating", "increase sweating" ], [ "profuse sweating", "profuse sweat" ], [ "sweating", "sweat" ], [ "sweating profusely", "sweat profusely" ], [ "sweating , increased", "sweating , increase" ] ], "xref": [ "MEDDRA:10020642 \"Hyperhidrosis\"", "MSH:D006945", "MSH:D013546", "SNOMEDCT_US:161857006", "SNOMEDCT_US:312230002", "SNOMEDCT_US:364538006", "SNOMEDCT_US:415690000", "SNOMEDCT_US:415691001", "SNOMEDCT_US:52613005", "UMLS:C0020458", "UMLS:C0038990", "UMLS:C0700590" ], "is_a": [ "HP:0007550" ], "is_obsolete": "", "replace_id": "" }, "HP:0000976": { "name": [ "eczematoid dermatitis", "eczematoid dermatitis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D004485", "SNOMEDCT_US:281104002", "SNOMEDCT_US:43116000", "UMLS:C0013595" ], "is_a": [ "HP:0000964" ], "is_obsolete": "", "replace_id": "" }, "HP:0000977": { "name": [ "soft skin", "soft skin" ], "alt_id": [], "def": "Subjective impression of increased softness upon palpitation of the skin.", "synonym": [ [ "soft skin", "soft skin" ], [ "velvety skin", "velvety skin" ], [ "velvety skin texture", "velvety skin texture" ] ], "xref": [ "UMLS:C0241178", "UMLS:C1844592" ], "is_a": [ "HP:0010647" ], "is_obsolete": "", "replace_id": "" }, "HP:0000978": { "name": [ "bruising susceptibility", "bruise susceptibility" ], "alt_id": [ "HP:0000959", "HP:0007433", "HP:0007472" ], "def": "An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.", "synonym": [ [ "bruisability", "bruisability" ], [ "bruise easily", "bruise easily" ], [ "bruising susceptibility", "bruise susceptibility" ], [ "easy bruisability", "easy bruisability" ], [ "easy bruising", "easy bruising" ] ], "xref": [ "MSH:D004438", "SNOMEDCT_US:302227002", "SNOMEDCT_US:424131007", "SNOMEDCT_US:425075004", "SNOMEDCT_US:77643000", "UMLS:C0013491", "UMLS:C0423798" ], "is_a": [ "HP:0001933" ], "is_obsolete": "", "replace_id": "" }, "HP:0000979": { "name": [ "purpura", "purpura" ], "alt_id": [], "def": "Purpura (from Latin: purpura, meaning \\\"purple\\\") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.", "synonym": [ [ "blood spots", "blood spot" ], [ "red or purple spots on the skin", "red or purple spot on the skin" ] ], "xref": [ "MSH:D011693", "SNOMEDCT_US:12393003", "SNOMEDCT_US:387778001", "SNOMEDCT_US:423902002", "UMLS:C0034150" ], "is_a": [ "HP:0001933" ], "is_obsolete": "", "replace_id": "" }, "HP:0000980": { "name": [ "pallor", "pallor" ], "alt_id": [], "def": "Abnormally pale skin.", "synonym": [ [ "paleness", "paleness" ], [ "skin paleness", "skin paleness" ] ], "xref": [ "MSH:D010167", "SNOMEDCT_US:398979000", "UMLS:C0030232" ], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0000982": { "name": [ "palmoplantar keratoderma", "palmoplantar keratoderma" ], "alt_id": [], "def": "Abnormal thickening of the skin of the palms of the hands and the soles of the feet.", "synonym": [ [ "palmar and plantar keratoderma", "palmar and plantar keratoderma" ], [ "thickening of palms and soles", "thickening of palm and sol" ] ], "xref": [ "MSH:D007645", "SNOMEDCT_US:706885006", "UMLS:C0022596" ], "is_a": [ "HP:0000972" ], "is_obsolete": "", "replace_id": "" }, "HP:0000987": { "name": [ "atypical scarring of skin", "atypical scarring of skin" ], "alt_id": [], "def": "Atypically scarred skin .", "synonym": [ [ "atypical scarring", "atypical scarring" ], [ "atypical scarring of skin", "atypical scarring of skin" ] ], "xref": [ "UMLS:C4021786" ], "is_a": [ "HP:0011355", "HP:0100699" ], "is_obsolete": "", "replace_id": "" }, "HP:0000988": { "name": [ "skin rash", "skin rash" ], "alt_id": [], "def": "A red eruption of the skin.", "synonym": [ [ "rash", "rash" ], [ "skin rash", "skin rash" ] ], "xref": [ "MEDDRA:10037844 \"Rash\"", "MSH:D005076", "SNOMEDCT_US:112625008", "SNOMEDCT_US:271807003", "UMLS:C0015230" ], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0000989": { "name": [ "pruritus", "pruritus" ], "alt_id": [], "def": "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.", "synonym": [ [ "itching", "itch" ], [ "itchy skin", "itchy skin" ], [ "pruritis", "pruritis" ], [ "skin itching", "skin itching" ] ], "xref": [ "MSH:D011537", "SNOMEDCT_US:279333002", "SNOMEDCT_US:418290006", "SNOMEDCT_US:418363000", "SNOMEDCT_US:424492005", "UMLS:C0033774" ], "is_a": [ "HP:0011122" ], "is_obsolete": "", "replace_id": "" }, "HP:0000991": { "name": [ "xanthomatosis", "xanthomatosis" ], "alt_id": [], "def": "The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.", "synonym": [ [ "xanthomata", "xanthomata" ], [ "yellow bumps of fatty deposits on skin", "yellow bump of fatty deposit on skin" ] ], "xref": [ "MSH:D014973", "SNOMEDCT_US:63103006", "UMLS:C0043325" ], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0000992": { "name": [ "cutaneous photosensitivity", "cutaneous photosensitivity" ], "alt_id": [ "HP:0005594", "HP:0006831", "HP:0007538" ], "def": "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.", "synonym": [ [ "photosensitive skin", "photosensitive skin" ], [ "photosensitive skin rashes", "photosensitive skin rash" ], [ "photosensitivity", "photosensitivity" ], [ "sensitivity to sunlight", "sensitivity to sunlight" ], [ "skin photosensitivity", "skin photosensitivity" ], [ "sun sensitivity", "sun sensitivity" ] ], "xref": [ "MSH:D010787", "SNOMEDCT_US:90128006", "UMLS:C0349506" ], "is_a": [ "HP:0011354" ], "is_obsolete": "", "replace_id": "" }, "HP:0000993": { "name": [ "molluscoid pseudotumors", "molluscoid pseudotumors" ], "alt_id": [], "def": "Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.", "synonym": [ [ "molluscoid pseudotumor", "molluscoid pseudotumor" ] ], "xref": [ "UMLS:C1844597" ], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0000995": { "name": [ "melanocytic nevus", "melanocytic nevus" ], "alt_id": [], "def": "A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.", "synonym": [ [ "beauty mark", "beauty mark" ], [ "melanocytic naevus", "melanocytic naevus" ], [ "melanocytic nevi", "melanocytic nevus" ], [ "nevocellular nevi", "nevocellular nevus" ], [ "noncancerous mole", "noncancerous mole" ], [ "pigmented naevi", "pigment naevi" ], [ "pigmented nevi", "pigment nevus" ] ], "xref": [ "MSH:D009508", "SNOMEDCT_US:21119008", "SNOMEDCT_US:400096001", "UMLS:C0027962", "UMLS:C4280269" ], "is_a": [ "HP:0001000", "HP:0003764" ], "is_obsolete": "", "replace_id": "" }, "HP:0000996": { "name": [ "facial capillary hemangioma", "facial capillary hemangioma" ], "alt_id": [], "def": "Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.", "synonym": [], "xref": [ "UMLS:C1858545" ], "is_a": [ "HP:0000329", "HP:0005306" ], "is_obsolete": "", "replace_id": "" }, "HP:0000997": { "name": [ "axillary freckling", "axillary freckling" ], "alt_id": [], "def": "The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.", "synonym": [], "xref": [ "UMLS:C1860335" ], "is_a": [ "HP:0001480" ], "is_obsolete": "", "replace_id": "" }, "HP:0000998": { "name": [ "hypertrichosis", "hypertrichosis" ], "alt_id": [], "def": "Hypertrichosis is increased hair growth that is abnormal in quantity or location.", "synonym": [ [ "excessive hair growth", "excessive hair growth" ], [ "increased hair growth on body", "increase hair growth on body" ] ], "xref": [ "MSH:D006983", "SNOMEDCT_US:271607001", "SNOMEDCT_US:29966009", "UMLS:C0020555" ], "is_a": [ "HP:0011362" ], "is_obsolete": "", "replace_id": "" }, "HP:0000999": { "name": [ "pyoderma", "pyoderma" ], "alt_id": [], "def": "Any manifestation of a skin disease associated with the production of pus.", "synonym": [ [ "pus - filled lesion", "pu - fill lesion" ] ], "xref": [ "MSH:D011711", "SNOMEDCT_US:70759006", "UMLS:C0034212" ], "is_a": [ "HP:0005406" ], "is_obsolete": "", "replace_id": "" }, "HP:0001000": { "name": [ "abnormality of skin pigmentation", "abnormality of skin pigmentation" ], "alt_id": [ "HP:0007582", "HP:0200045" ], "def": "An abnormality of the pigmentation of the skin.", "synonym": [ [ "abnormal pigmentation", "abnormal pigmentation" ], [ "abnormal skin color", "abnormal skin color" ], [ "abnormal skin colour", "abnormal skin colour" ], [ "abnormal skin pigmentation", "abnormal skin pigmentation" ], [ "abnormality of pigmentation", "abnormality of pigmentation" ], [ "abnormality of skin pigmentation", "abnormality of skin pigmentation" ], [ "pigmentary changes", "pigmentary change" ], [ "pigmentary skin changes", "pigmentary skin change" ], [ "pigmentation anomaly", "pigmentation anomaly" ] ], "xref": [ "UMLS:C1260926" ], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0001001": { "name": [ "abnormality of subcutaneous fat tissue", "abnormality of subcutaneous fat tissue" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of fatty tissue below the skin", "abnormality of fatty tissue below the skin" ] ], "xref": [ "UMLS:C4025813" ], "is_a": [ "HP:0009124", "HP:0011354" ], "is_obsolete": "", "replace_id": "" }, "HP:0001002": { "name": [ "obsolete decreased subcutaneous fat", "obsolete decrease subcutaneous fat" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0003758" }, "HP:0001003": { "name": [ "multiple lentigines", "multiple lentigo" ], "alt_id": [], "def": "Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.", "synonym": [ [ "liver spots", "liver spot" ] ], "xref": [ "SNOMEDCT_US:72100002", "UMLS:C0036651", "UMLS:C1328931" ], "is_a": [ "HP:0001034" ], "is_obsolete": "", "replace_id": "" }, "HP:0001004": { "name": [ "lymphedema", "lymphedema" ], "alt_id": [ "HP:0003605" ], "def": "Localized fluid retention and tissue swelling caused by a compromised lymphatic system.", "synonym": [ [ "lymphatic obstruction", "lymphatic obstruction" ], [ "lymphoedema", "lymphoedema" ], [ "onset of lymphedema around puberty", "onset of lymphedema around puberty" ], [ "swelling caused by excess lymph fluid under skin", "swell cause by excess lymph fluid under skin" ] ], "xref": [ "MSH:D008209", "SNOMEDCT_US:234097001", "SNOMEDCT_US:30213001", "UMLS:C0024236", "UMLS:C0240278", "UMLS:C1835229" ], "is_a": [ "HP:0000969" ], "is_obsolete": "", "replace_id": "" }, "HP:0001005": { "name": [ "dermatological manifestations of systemic disorders", "dermatological manifestation of systemic disorder" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025812" ], "is_a": [ "HP:0011354" ], "is_obsolete": "", "replace_id": "" }, "HP:0001006": { "name": [ "obsolete hypotrichosis", "obsolete hypotrichosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0008070" }, "HP:0001007": { "name": [ "hirsutism", "hirsutism" ], "alt_id": [], "def": "Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).", "synonym": [ [ "excessive hairiness", "excessive hairiness" ] ], "xref": [ "MSH:D006628", "SNOMEDCT_US:399939002", "UMLS:C0019572" ], "is_a": [ "HP:0011362" ], "is_obsolete": "", "replace_id": "" }, "HP:0001008": { "name": [ "accumulation of melanosomes in melanocytes", "accumulation of melanosomes in melanocyte" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1843389" ], "is_a": [ "HP:0011125" ], "is_obsolete": "", "replace_id": "" }, "HP:0001009": { "name": [ "telangiectasia", "telangiectasia" ], "alt_id": [ "HP:0001079" ], "def": "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.", "synonym": [ [ "cutaneous telangiectasia", "cutaneous telangiectasia" ], [ "spider veins", "spider vein" ], [ "telangiectases", "telangiectases" ] ], "xref": [ "MSH:D013684", "SNOMEDCT_US:112641009", "SNOMEDCT_US:247479008", "UMLS:C0039446", "UMLS:C1138421" ], "is_a": [ "HP:0011276" ], "is_obsolete": "", "replace_id": "" }, "HP:0001010": { "name": [ "hypopigmentation of the skin", "hypopigmentation of the skin" ], "alt_id": [ "HP:0005589", "HP:0007604", "HP:0007622" ], "def": "A reduction of skin color related to a decrease in melanin production and deposition.", "synonym": [ [ "hypopigmentation", "hypopigmentation" ], [ "hypopigmented skin", "hypopigmented skin" ], [ "patchy lightened skin", "patchy lighten skin" ], [ "skin hypopigmentation", "skin hypopigmentation" ] ], "xref": [ "MSH:D017496", "SNOMEDCT_US:18655006", "SNOMEDCT_US:201284005", "SNOMEDCT_US:23006000", "SNOMEDCT_US:89031001", "UMLS:C0162835" ], "is_a": [ "HP:0001000" ], "is_obsolete": "", "replace_id": "" }, "HP:0001011": { "name": [ "obsolete diaphoresis ( with pheochromocytoma )", "obsolete diaphoresis ( with pheochromocytoma )" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000975" }, "HP:0001012": { "name": [ "multiple lipomas", "multiple lipoma" ], "alt_id": [], "def": "The presence of multiple lipomas (a type of benign tissue made of fatty tissue).", "synonym": [ [ "lipomas", "lipoma" ], [ "lipomatosis", "lipomatosis" ], [ "multiple fatty lumps", "multiple fatty lump" ] ], "xref": [ "MSH:D008067", "NCIT:C3192", "SNOMEDCT_US:404062002", "SNOMEDCT_US:46720004", "SNOMEDCT_US:93163002", "UMLS:C0023798", "UMLS:C0745730" ], "is_a": [ "HP:0012031" ], "is_obsolete": "", "replace_id": "" }, "HP:0001013": { "name": [ "eruptive xanthomas", "eruptive xanthoma" ], "alt_id": [], "def": "Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.", "synonym": [], "xref": [ "SNOMEDCT_US:238952003", "UMLS:C0221252" ], "is_a": [ "HP:0000991" ], "is_obsolete": "", "replace_id": "" }, "HP:0001014": { "name": [ "angiokeratoma", "angiokeratoma" ], "alt_id": [], "def": "A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot.", "synonym": [ [ "angiokeratomas", "angiokeratomas" ] ], "xref": [ "MSH:D000794", "SNOMEDCT_US:26810009", "UMLS:C0002985" ], "is_a": [ "HP:0011276" ], "is_obsolete": "", "replace_id": "" }, "HP:0001015": { "name": [ "prominent superficial veins", "prominent superficial vein" ], "alt_id": [], "def": "A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.", "synonym": [ [ "prominent veins", "prominent vein" ] ], "xref": [ "UMLS:C1837785" ], "is_a": [ "HP:0002624", "HP:0007394" ], "is_obsolete": "", "replace_id": "" }, "HP:0001017": { "name": [ "anemic pallor", "anemic pallor" ], "alt_id": [], "def": "A type of pallor that is secondary to the presence of anemia.", "synonym": [ [ "anaemic pallor", "anaemic pallor" ] ], "xref": [ "UMLS:C4025811" ], "is_a": [ "HP:0000980" ], "is_obsolete": "", "replace_id": "" }, "HP:0001018": { "name": [ "abnormal palmar dermatoglyphics", "abnormal palmar dermatoglyphic" ], "alt_id": [], "def": "An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.", "synonym": [], "xref": [ "UMLS:C4025810" ], "is_a": [ "HP:0007477", "HP:0040211" ], "is_obsolete": "", "replace_id": "" }, "HP:0001019": { "name": [ "erythroderma", "erythroderma" ], "alt_id": [], "def": "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.", "synonym": [ [ "exfoliative dermititis", "exfoliative dermititis" ], [ "generalised erythroderma", "generalise erythroderma" ], [ "generalised erythrodermia", "generalise erythrodermia" ], [ "generalized erythroderma", "generalize erythroderma" ], [ "generalized erythrodermia", "generalize erythrodermia" ], [ "red scaly skin caused by inflammatory skin disease", "red scaly skin cause by inflammatory skin disease" ] ], "xref": [ "MSH:D003873", "SNOMEDCT_US:200948000", "SNOMEDCT_US:396349005", "SNOMEDCT_US:396350005", "SNOMEDCT_US:399992009", "SNOMEDCT_US:400005007", "UMLS:C0011606" ], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0001022": { "name": [ "albinism", "albinism" ], "alt_id": [], "def": "An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).", "synonym": [ [ "achromasia", "achromasia" ], [ "albinism", "albinism" ] ], "xref": [ "MSH:D000417", "SNOMEDCT_US:15890002", "SNOMEDCT_US:18064000", "UMLS:C0001916", "UMLS:C0333913" ], "is_a": [ "HP:0005599", "HP:0007513" ], "is_obsolete": "", "replace_id": "" }, "HP:0001024": { "name": [ "skin dimple over apex of long bone angulation", "skin dimple over apex of long bone angulation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1855815" ], "is_a": [ "HP:0010781" ], "is_obsolete": "", "replace_id": "" }, "HP:0001025": { "name": [ "urticaria", "urticaria" ], "alt_id": [], "def": "Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.", "synonym": [ [ "hives", "hive" ] ], "xref": [ "MEDDRA:10046735 \"Urticaria\"", "MSH:D014581", "SNOMEDCT_US:126485001", "SNOMEDCT_US:247472004", "SNOMEDCT_US:64305001", "UMLS:C0042109" ], "is_a": [ "HP:0011276" ], "is_obsolete": "", "replace_id": "" }, "HP:0001026": { "name": [ "penetrating foot ulcers", "penetrate foot ulcer" ], "alt_id": [], "def": "", "synonym": [ [ "penetrating foot ulcers", "penetrate foot ulcer" ] ], "xref": [ "UMLS:C4025809" ], "is_a": [ "HP:0200042" ], "is_obsolete": "", "replace_id": "" }, "HP:0001027": { "name": [ "soft , doughy skin", "soft , doughy skin" ], "alt_id": [], "def": "A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.", "synonym": [ [ "soft , doughy skin", "soft , doughy skin" ] ], "xref": [ "UMLS:C1849043" ], "is_a": [ "HP:0000977" ], "is_obsolete": "", "replace_id": "" }, "HP:0001028": { "name": [ "hemangioma", "hemangioma" ], "alt_id": [ "HP:0007444" ], "def": "A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).", "synonym": [ [ "hemangiomata", "hemangiomata" ], [ "strawberry mark", "strawberry mark" ] ], "xref": [ "MSH:D006391", "NCIT:C3085", "SNOMEDCT_US:2099007", "SNOMEDCT_US:253053003", "SNOMEDCT_US:400210000", "UMLS:C0018916" ], "is_a": [ "HP:0100742" ], "is_obsolete": "", "replace_id": "" }, "HP:0001029": { "name": [ "poikiloderma", "poikiloderma" ], "alt_id": [], "def": "Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.", "synonym": [], "xref": [ "MEDDRA:10057041 \"Poikiloderma\"", "SNOMEDCT_US:402685001", "SNOMEDCT_US:70114006", "UMLS:C0392777" ], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0001030": { "name": [ "fragile skin", "fragile skin" ], "alt_id": [], "def": "Skin that splits easily with minimal injury.", "synonym": [ [ "fragile skin", "fragile skin" ], [ "skin fragility", "skin fragility" ] ], "xref": [ "MEDDRA:10040851 \"Skin fragility\"", "SNOMEDCT_US:247427007", "UMLS:C0241181" ], "is_a": [ "HP:0011354" ], "is_obsolete": "", "replace_id": "" }, "HP:0001031": { "name": [ "subcutaneous lipoma", "subcutaneous lipoma" ], "alt_id": [], "def": "The presence of subcutaneous lipoma.", "synonym": [], "xref": [ "NCIT:C3192", "UMLS:C1403035" ], "is_a": [ "HP:0001001", "HP:0001012", "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0001032": { "name": [ "absent distal interphalangeal creases", "absent distal interphalangeal crease" ], "alt_id": [], "def": "Absence of the distal interphalangeal flexion creases of the fingers.", "synonym": [ [ "absence of skin creases over distal interphalangeal joints", "absence of skin crease over distal interphalangeal joint" ], [ "aplasia of the distal interphalangeal creases", "aplasia of the distal interphalangeal crease" ], [ "distal finger flexion creases absent", "distal finger flexion crease absent" ] ], "xref": [ "UMLS:C1861349" ], "is_a": [ "HP:0006109" ], "is_obsolete": "", "replace_id": "" }, "HP:0001033": { "name": [ "facial flushing after alcohol intake", "facial flushing after alcohol intake" ], "alt_id": [], "def": "", "synonym": [ [ "facial flushing after alcohol intake", "facial flushing after alcohol intake" ] ], "xref": [ "UMLS:C4025808" ], "is_a": [ "HP:0031284" ], "is_obsolete": "", "replace_id": "" }, "HP:0001034": { "name": [ "hypermelanotic macule", "hypermelanotic macule" ], "alt_id": [ "HP:0007442", "HP:0007491", "HP:0007492", "HP:0100815", "HP:0200031", "HP:0200033" ], "def": "A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.", "synonym": [ [ "hyperpigmented macules", "hyperpigmented macule" ], [ "hyperpigmented skin patches", "hyperpigmented skin patch" ], [ "hyperpigmented spots", "hyperpigmented spot" ] ], "xref": [ "UMLS:C1842774" ], "is_a": [ "HP:0007400", "HP:0012733" ], "is_obsolete": "", "replace_id": "" }, "HP:0001036": { "name": [ "parakeratosis", "parakeratosis" ], "alt_id": [], "def": "Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.", "synonym": [], "xref": [ "MSH:D010241", "SNOMEDCT_US:200766001", "SNOMEDCT_US:65068000", "UMLS:C0030436" ], "is_a": [ "HP:0011368" ], "is_obsolete": "", "replace_id": "" }, "HP:0001038": { "name": [ "warfarin - induced skin necrosis", "warfarin - induced skin necrosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1867638" ], "is_a": [ "HP:0001005" ], "is_obsolete": "", "replace_id": "" }, "HP:0001039": { "name": [ "atheroeruptive xanthoma", "atheroeruptive xanthoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025807" ], "is_a": [ "HP:0000991" ], "is_obsolete": "", "replace_id": "" }, "HP:0001040": { "name": [ "multiple pterygia", "multiple pterygium" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1867448" ], "is_a": [ "HP:0001059" ], "is_obsolete": "", "replace_id": "" }, "HP:0001041": { "name": [ "facial erythema", "facial erythema" ], "alt_id": [ "HP:0001068" ], "def": "Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.", "synonym": [ [ "blushed cheeks", "blush cheek" ], [ "blushing", "blushing" ], [ "red face", "red face" ], [ "red in the face", "red in the face" ], [ "rosacea", "rosacea" ], [ "ruddy face", "ruddy face" ] ], "xref": [ "MSH:D001821", "MSH:D012393", "SNOMEDCT_US:20255002", "SNOMEDCT_US:271811009", "SNOMEDCT_US:398909004", "UMLS:C0005874", "UMLS:C0035854", "UMLS:C0239488", "UMLS:C4020880" ], "is_a": [ "HP:0010783" ], "is_obsolete": "", "replace_id": "" }, "HP:0001042": { "name": [ "high axial triradius", "high axial triradius" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025806" ], "is_a": [ "HP:0001018" ], "is_obsolete": "", "replace_id": "" }, "HP:0001043": { "name": [ "prominent scalp veins", "prominent scalp vein" ], "alt_id": [], "def": "", "synonym": [ [ "prominent scalp veins", "prominent scalp vein" ] ], "xref": [ "UMLS:C1856542" ], "is_a": [ "HP:0001015", "HP:0001965", "HP:3000036" ], "is_obsolete": "", "replace_id": "" }, "HP:0001045": { "name": [ "vitiligo", "vitiligo" ], "alt_id": [], "def": "", "synonym": [ [ "blotchy loss of skin color", "blotchy loss of skin color" ], [ "blotchy loss of skin colour", "blotchy loss of skin colour" ] ], "xref": [ "MSH:D014820", "SNOMEDCT_US:56727007", "UMLS:C0042900" ], "is_a": [ "HP:0001000" ], "is_obsolete": "", "replace_id": "" }, "HP:0001046": { "name": [ "intermittent jaundice", "intermittent jaundice" ], "alt_id": [], "def": "Jaundice that is sometimes present, sometimes not.", "synonym": [ [ "intermittent icterus", "intermittent icterus" ], [ "intermittent yellow skin", "intermittent yellow skin" ], [ "intermittent yellowing of skin", "intermittent yellowing of skin" ] ], "xref": [ "UMLS:C4025805" ], "is_a": [ "HP:0000952" ], "is_obsolete": "", "replace_id": "" }, "HP:0001047": { "name": [ "atopic dermatitis", "atopic dermatitis" ], "alt_id": [ "HP:0007533", "HP:0007564" ], "def": "Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.", "synonym": [ [ "atopic dermatitis , chronic", "atopic dermatitis , chronic" ], [ "baby eczema", "baby eczema" ], [ "dermatitis , atopic", "dermatitis , atopic" ] ], "xref": [ "MSH:D003876", "SNOMEDCT_US:200775004", "SNOMEDCT_US:24079001", "UMLS:C0011615", "UMLS:C4280605" ], "is_a": [ "HP:0000964" ], "is_obsolete": "", "replace_id": "" }, "HP:0001048": { "name": [ "cavernous hemangioma", "cavernous hemangioma" ], "alt_id": [], "def": "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.", "synonym": [ [ "cavernous angioma", "cavernous angioma" ], [ "cavernous haemangioma", "cavernous haemangioma" ], [ "collection of dilated blood vessels that forms mass", "collection of dilated blood vessel that form mass" ] ], "xref": [ "MEDDRA:10055899 \"Haemangioma cavernous\"", "MSH:D006392", "NCIT:C3086", "SNOMEDCT_US:33377007", "SNOMEDCT_US:416824008", "SNOMEDCT_US:56975005", "UMLS:C0018920" ], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0001049": { "name": [ "absent dorsal skin creases over affected joints", "absent dorsal skin crease over affected joint" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1861400" ], "is_a": [ "HP:0006143" ], "is_obsolete": "", "replace_id": "" }, "HP:0001050": { "name": [ "plethora", "plethora" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:75246004", "UMLS:C0232370" ], "is_a": [ "HP:0001005" ], "is_obsolete": "", "replace_id": "" }, "HP:0001051": { "name": [ "seborrheic dermatitis", "seborrheic dermatitis" ], "alt_id": [ "HP:0007562" ], "def": "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.", "synonym": [ [ "dysseborrheic dermatitis", "dysseborrheic dermatitis" ], [ "seborrhea", "seborrhea" ], [ "seborrheic eczema", "seborrheic eczema" ] ], "xref": [ "MSH:D012628", "SNOMEDCT_US:50563003", "SNOMEDCT_US:86708008", "UMLS:C0036508", "UMLS:C3806554" ], "is_a": [ "HP:0000964" ], "is_obsolete": "", "replace_id": "" }, "HP:0001052": { "name": [ "nevus flammeus", "nevus flammeus" ], "alt_id": [], "def": "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.", "synonym": [ [ "nevus simplex", "nevus simplex" ], [ "port - wine stain", "port - wine stain" ] ], "xref": [ "MEDDRA:10067193 \"Naevus flammeus\"", "MSH:D019339", "SNOMEDCT_US:254211001", "SNOMEDCT_US:416377005", "UMLS:C0235752" ], "is_a": [ "HP:0003764", "HP:0025104" ], "is_obsolete": "", "replace_id": "" }, "HP:0001053": { "name": [ "hypopigmented skin patches", "hypopigmented skin patch" ], "alt_id": [], "def": "", "synonym": [ [ "patchy loss of skin color", "patchy loss of skin color" ], [ "patchy loss of skin colour", "patchy loss of skin colour" ] ], "xref": [ "UMLS:C1836735" ], "is_a": [ "HP:0001010", "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0001054": { "name": [ "numerous nevi", "numerous nevus" ], "alt_id": [], "def": "", "synonym": [ [ "multiple pigmented nevi", "multiple pigment nevus" ], [ "numerous moles", "numerous mole" ] ], "xref": [ "UMLS:C1849677" ], "is_a": [ "HP:0003764", "HP:0010566" ], "is_obsolete": "", "replace_id": "" }, "HP:0001055": { "name": [ "erysipelas", "erysipelas" ], "alt_id": [], "def": "Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.", "synonym": [ [ "st. anthony 's fire", "st. anthony 's fire" ] ], "xref": [ "MEDDRA:10015145 \"Erysipelas\"", "MSH:D004881", "MSH:D004886", "SNOMEDCT_US:44653001", "SNOMEDCT_US:51510002", "UMLS:C0014714", "UMLS:C0014733" ], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0001056": { "name": [ "milia", "milium" ], "alt_id": [], "def": "Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.", "synonym": [ [ "milk spot", "milk spot" ], [ "millium cyst", "millium cyst" ] ], "xref": [ "SNOMEDCT_US:254679001", "SNOMEDCT_US:254683001", "SNOMEDCT_US:37719003", "UMLS:C0345996" ], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0001057": { "name": [ "aplasia cutis congenita", "aplasia cutis congenita" ], "alt_id": [], "def": "A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.", "synonym": [ [ "absence of part of skin at birth", "absence of part of skin at birth" ], [ "congenital absence of skin", "congenital absence of skin" ], [ "congenital scars", "congenital scar" ], [ "cutis aplasia", "cutis aplasia" ] ], "xref": [ "MEDDRA:10002963 \"Aplasia cutis congenita\"", "MSH:D004476", "SNOMEDCT_US:254237003", "SNOMEDCT_US:35484002", "SNOMEDCT_US:74223008", "UMLS:C0265989", "UMLS:C0282160" ], "is_a": [ "HP:0008065" ], "is_obsolete": "", "replace_id": "" }, "HP:0001058": { "name": [ "poor wound healing", "poor wind heal" ], "alt_id": [], "def": "A reduced ability to heal cutaneous wounds.", "synonym": [ [ "poor wound healing", "poor wind heal" ] ], "xref": [ "UMLS:C1851789" ], "is_a": [ "HP:0011354" ], "is_obsolete": "", "replace_id": "" }, "HP:0001059": { "name": [ "pterygium", "pterygium" ], "alt_id": [], "def": "Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.", "synonym": [ [ "pterygia", "pterygium" ], [ "surfer 's eye", "surfer 's eye" ] ], "xref": [ "MSH:D011625", "SNOMEDCT_US:77489003", "UMLS:C0033999" ], "is_a": [ "HP:0001367", "HP:0011356" ], "is_obsolete": "", "replace_id": "" }, "HP:0001060": { "name": [ "axillary pterygium", "axillary pterygium" ], "alt_id": [], "def": "Presence of a cutaneous membrane (flap) in the armpit.", "synonym": [ [ "axillary pterygia", "axillary pterygium" ] ], "xref": [ "UMLS:C1844738" ], "is_a": [ "HP:0001059" ], "is_obsolete": "", "replace_id": "" }, "HP:0001061": { "name": [ "acne", "acne" ], "alt_id": [ "HP:0005596" ], "def": "A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).", "synonym": [ [ "acne", "acne" ], [ "breaking out", "break out" ] ], "xref": [ "MEDDRA:10000496 \"Acne\"", "SNOMEDCT_US:11381005", "UMLS:C0702166" ], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0001062": { "name": [ "atypical nevus", "atypical nevus" ], "alt_id": [], "def": "A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink.", "synonym": [ [ "atypical mole", "atypical mole" ], [ "dysplastic nevus", "dysplastic nevus" ] ], "xref": [ "MSH:D004416", "SNOMEDCT_US:254818000", "SNOMEDCT_US:61814002", "UMLS:C0205748" ], "is_a": [ "HP:0003764" ], "is_obsolete": "", "replace_id": "" }, "HP:0001063": { "name": [ "acrocyanosis", "acrocyanosis" ], "alt_id": [], "def": "Bluish discoloration of the skin of the hands or feet.", "synonym": [ [ "persistent blue color of hands or feet", "persistent blue color of hand or foot" ], [ "persistent blue colour of hands or feet", "persistent blue colour of hand or foot" ] ], "xref": [ "SNOMEDCT_US:25003006", "UMLS:C0221347" ], "is_a": [ "HP:0034033" ], "is_obsolete": "", "replace_id": "" }, "HP:0001065": { "name": [ "striae distensae", "stria distensae" ], "alt_id": [ "HP:0001023", "HP:0001066", "HP:0100680" ], "def": "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.", "synonym": [ [ "purplish striae", "purplish stria" ], [ "stretch marks", "stretch mark" ], [ "striae", "stria" ], [ "striae atrophicae", "stria atrophicae" ], [ "striae cutis distensae", "stria cutis distensae" ] ], "xref": [ "MEDDRA:10040925 \"Skin striae\"", "MSH:D057896", "SNOMEDCT_US:201066002", "SNOMEDCT_US:201067006", "SNOMEDCT_US:47212006", "UMLS:C0152459" ], "is_a": [ "HP:0004334", "HP:0100679" ], "is_obsolete": "", "replace_id": "" }, "HP:0001067": { "name": [ "neurofibromas", "neurofibroma" ], "alt_id": [ "HP:0006746", "HP:0007386", "HP:0007612" ], "def": "The presence of multiple cutaneous neurofibromas.", "synonym": [ [ "multiple neurofibromas", "multiple neurofibroma" ], [ "neurofibromata", "neurofibromata" ], [ "neurofibromatosis", "neurofibromatosis" ] ], "xref": [ "MSH:D017253", "NCIT:C3272", "SNOMEDCT_US:19133005", "SNOMEDCT_US:81669005", "UMLS:C0162678" ], "is_a": [ "HP:0008069", "HP:0010614", "HP:0100007" ], "is_obsolete": "", "replace_id": "" }, "HP:0001069": { "name": [ "episodic hyperhidrosis", "episodic hyperhidrosis" ], "alt_id": [], "def": "Intermittent episodes of abnormally increased perspiration.", "synonym": [ [ "hyperhidrosis , episodic", "hyperhidrosis , episodic" ], [ "sporadic excessive sweating", "sporadic excessive sweating" ] ], "xref": [ "UMLS:C1857171" ], "is_a": [ "HP:0000975" ], "is_obsolete": "", "replace_id": "" }, "HP:0001070": { "name": [ "mottled pigmentation", "mottle pigmentation" ], "alt_id": [ "HP:0007584" ], "def": "Patchy and irregular skin pigmentation.", "synonym": [ [ "mottled skin coloring", "mottle skin color" ], [ "mottled skin colouring", "mottle skin colour" ], [ "stippled pigmentation", "stipple pigmentation" ] ], "xref": [ "UMLS:C0860439", "UMLS:C4020879" ], "is_a": [ "HP:0001000" ], "is_obsolete": "", "replace_id": "" }, "HP:0001071": { "name": [ "angiokeratoma corporis diffusum", "angiokeratoma corporis diffusum" ], "alt_id": [], "def": "", "synonym": [ [ "fabry syndrome", "fabry syndrome" ] ], "xref": [ "MSH:D000795", "SNOMEDCT_US:124464003", "SNOMEDCT_US:16652001", "UMLS:C0002986" ], "is_a": [ "HP:0001014" ], "is_obsolete": "", "replace_id": "" }, "HP:0001072": { "name": [ "thickened skin", "thicken skin" ], "alt_id": [ "HP:0007393" ], "def": "Laminar thickening of skin.", "synonym": [ [ "diffusely thickened skin", "diffusely thicken skin" ], [ "pachydermia", "pachydermia" ], [ "thick skin", "thick skin" ], [ "thickened skin", "thicken skin" ] ], "xref": [ "MEDDRA:10040936 \"Skin thickening\"", "SNOMEDCT_US:17417006", "SNOMEDCT_US:69943009", "UMLS:C0334008", "UMLS:C4020878" ], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0001073": { "name": [ "cigarette - paper scars", "cigarette - paper scar" ], "alt_id": [], "def": "Thin (atrophic) and wide scars.", "synonym": [ [ "'cigarette paper scarring '", "'cigarette paper scarring '" ], [ "cigarette paper scarring", "cigarette paper scar" ], [ "cigarette - paper scars", "cigarette - paper scar" ] ], "xref": [ "UMLS:C1851828" ], "is_a": [ "HP:0001075" ], "is_obsolete": "", "replace_id": "" }, "HP:0001074": { "name": [ "atypical nevi in non - sun exposed areas", "atypical nevus in non - sun expose area" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021837" ], "is_a": [ "HP:0003764" ], "is_obsolete": "", "replace_id": "" }, "HP:0001075": { "name": [ "atrophic scars", "atrophic scar" ], "alt_id": [ "HP:0007567" ], "def": "Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.", "synonym": [ [ "sunken or indented skin due to damage", "sunken or indent skin due to damage" ], [ "thin , atrophic scars", "thin , atrophic scar" ] ], "xref": [ "SNOMEDCT_US:239172000", "SNOMEDCT_US:409766009", "UMLS:C0162154" ], "is_a": [ "HP:0000987", "HP:0004334" ], "is_obsolete": "", "replace_id": "" }, "HP:0001076": { "name": [ "glabellar hemangioma", "glabellar hemangioma" ], "alt_id": [], "def": "", "synonym": [ [ "glabellar capillary hemangioma", "glabellar capillary hemangioma" ] ], "xref": [ "UMLS:C1854408" ], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0001080": { "name": [ "biliary tract abnormality", "biliary tract abnormality" ], "alt_id": [], "def": "An abnormality of the biliary tree.", "synonym": [ [ "biliary tract disease", "biliary tract disease" ] ], "xref": [ "MSH:D001660", "SNOMEDCT_US:105997008", "UMLS:C0005424", "UMLS:C0549613" ], "is_a": [ "HP:0004297" ], "is_obsolete": "", "replace_id": "" }, "HP:0001081": { "name": [ "cholelithiasis", "cholelithiasis" ], "alt_id": [], "def": "Hard, pebble-like deposits that form within the gallbladder.", "synonym": [ [ "gallstones", "gallstone" ] ], "xref": [ "MSH:D002769", "SNOMEDCT_US:266474003", "UMLS:C0008350" ], "is_a": [ "HP:0012437" ], "is_obsolete": "", "replace_id": "" }, "HP:0001082": { "name": [ "cholecystitis", "cholecystitis" ], "alt_id": [], "def": "The presence of inflammatory changes in the gallbladder.", "synonym": [ [ "gallbladder inflammation", "gallbladder inflammation" ] ], "xref": [ "MSH:D002764", "SNOMEDCT_US:76581006", "UMLS:C0008325" ], "is_a": [ "HP:0012438" ], "is_obsolete": "", "replace_id": "" }, "HP:0001083": { "name": [ "ectopia lentis", "ectopia lentis" ], "alt_id": [ "HP:0000665", "HP:0007637", "HP:0007882", "HP:0008016" ], "def": "Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.", "synonym": [ [ "abnormality of lens position", "abnormality of lens position" ], [ "lens dislocation", "lens dislocation" ] ], "xref": [ "MSH:D004479", "MSH:D007906", "SNOMEDCT_US:74969002", "UMLS:C0013581", "UMLS:C0023309" ], "is_a": [ "HP:0000517" ], "is_obsolete": "", "replace_id": "" }, "HP:0001084": { "name": [ "corneal arcus", "corneal arcus" ], "alt_id": [ "HP:0100741" ], "def": "A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.", "synonym": [ [ "anterior embryotoxon", "anterior embryotoxon" ], [ "arcus juvenilis", "arcus juvenilis" ], [ "arcus lipoidis", "arcus lipoidis" ], [ "arcus senilis", "arcus senilis" ], [ "corneal annulus", "corneal annulus" ], [ "gerontoxon", "gerontoxon" ] ], "xref": [ "MSH:D001112", "SNOMEDCT_US:111522004", "SNOMEDCT_US:231924000", "SNOMEDCT_US:231925004", "UMLS:C0003742", "UMLS:C0339268" ], "is_a": [ "HP:0008011" ], "is_obsolete": "", "replace_id": "" }, "HP:0001085": { "name": [ "papilledema", "papilledema" ], "alt_id": [ "HP:0001130" ], "def": "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.", "synonym": [], "xref": [ "MSH:D010211", "SNOMEDCT_US:248487006", "SNOMEDCT_US:423341008", "SNOMEDCT_US:73221001", "UMLS:C0030353" ], "is_a": [ "HP:0012795" ], "is_obsolete": "", "replace_id": "" }, "HP:0001087": { "name": [ "developmental glaucoma", "developmental glaucoma" ], "alt_id": [], "def": "Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma.", "synonym": [ [ "childhood glaucoma", "childhood glaucoma" ], [ "infantile glaucoma", "infantile glaucoma" ], [ "paediatric glaucoma", "paediatric glaucoma" ], [ "pediatric glaucoma", "pediatric glaucoma" ] ], "xref": [ "MSH:D006871", "SNOMEDCT_US:204113001", "SNOMEDCT_US:413728006", "UMLS:C0020302" ], "is_a": [ "HP:0000501", "HP:0007700" ], "is_obsolete": "", "replace_id": "" }, "HP:0001088": { "name": [ "brushfield spots", "brushfield spot" ], "alt_id": [], "def": "The presence of whitish spots in a ring-like arrangement at the periphery of the iris.", "synonym": [ [ "iris brushfield spots", "iris brushfield spot" ], [ "speckled iris", "speckle iris" ] ], "xref": [ "SNOMEDCT_US:400960002", "UMLS:C1303007", "UMLS:C4280604" ], "is_a": [ "HP:0008034" ], "is_obsolete": "", "replace_id": "" }, "HP:0001089": { "name": [ "iris atrophy", "iris atrophy" ], "alt_id": [], "def": "Loss of iris tissue (atrophy)", "synonym": [ [ "iris degeneration", "iris degeneration" ] ], "xref": [ "SNOMEDCT_US:95709007", "UMLS:C0423319" ], "is_a": [ "HP:0000525" ], "is_obsolete": "", "replace_id": "" }, "HP:0001090": { "name": [ "abnormally large globe", "abnormally large globe" ], "alt_id": [ "HP:0200093" ], "def": "Diffusely large eye (with megalocornea) without glaucoma.", "synonym": [ [ "increased size of eyes", "increase size of eye" ], [ "increased size of palpebral fissures", "increase size of palpebral fissure" ], [ "large eyeballs", "large eyeball" ], [ "large eyes", "large eye" ], [ "large of palpebral fissures", "large of palpebral fissure" ], [ "megalophthalmos", "megalophthalmos" ] ], "xref": [ "SNOMEDCT_US:246920008", "UMLS:C0423221", "UMLS:C1855852", "UMLS:C4280603" ], "is_a": [ "HP:0100887" ], "is_obsolete": "", "replace_id": "" }, "HP:0001092": { "name": [ "absent lacrimal punctum", "absent lacrimal punctum" ], "alt_id": [ "HP:0007977" ], "def": "No identifiable superior and/or inferior lacrimal punctum.", "synonym": [ [ "absent lacrimal gland puncta", "absent lacrimal gland puncta" ], [ "absent lacrimal openings", "absent lacrimal opening" ], [ "absent lacrimal puncta", "absent lacrimal puncta" ], [ "agenesis of the lacrimal punctum", "agenesis of the lacrimal punctum" ], [ "aplasia of lacrimal puncta", "aplasia of lacrimal puncta" ], [ "lacrimal puncta aplasia", "lacrimal puncta aplasia" ], [ "lacrimal punctum , absence", "lacrimal punctum , absence" ] ], "xref": [ "MSH:C566703", "SNOMEDCT_US:204208005", "SNOMEDCT_US:253217007", "UMLS:C0344509", "UMLS:C1867060" ], "is_a": [ "HP:0011479" ], "is_obsolete": "", "replace_id": "" }, "HP:0001093": { "name": [ "optic nerve dysplasia", "optic nerve dysplasia" ], "alt_id": [], "def": "The presence of developmental dysplasia of the optic nerve.", "synonym": [], "xref": [ "UMLS:C2676026" ], "is_a": [ "HP:0000587" ], "is_obsolete": "", "replace_id": "" }, "HP:0001094": { "name": [ "iridocyclitis", "iridocyclitis" ], "alt_id": [], "def": "A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.", "synonym": [], "xref": [ "MSH:D015863", "SNOMEDCT_US:77971008", "UMLS:C0022073" ], "is_a": [ "HP:0012122" ], "is_obsolete": "", "replace_id": "" }, "HP:0001095": { "name": [ "hypertensive retinopathy", "hypertensive retinopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D058437", "SNOMEDCT_US:6962006", "UMLS:C0152132" ], "is_a": [ "HP:0008046" ], "is_obsolete": "", "replace_id": "" }, "HP:0001096": { "name": [ "keratoconjunctivitis", "keratoconjunctivitis" ], "alt_id": [], "def": "Inflammation of the cornea and conjunctiva.", "synonym": [], "xref": [ "MSH:D007637", "SNOMEDCT_US:88151007", "UMLS:C0022573" ], "is_a": [ "HP:0000491", "HP:0000509" ], "is_obsolete": "", "replace_id": "" }, "HP:0001097": { "name": [ "keratoconjunctivitis sicca", "keratoconjunctivitis sicca" ], "alt_id": [], "def": "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.", "synonym": [ [ "dry eye syndrome", "dry eye syndrome" ], [ "dry eyes", "dry eye" ], [ "keratitis sicca", "keratitis sicca" ], [ "xerophthalmia", "xerophthalmia" ] ], "xref": [ "MSH:C531719", "MSH:D007638", "MSH:D014985", "MSH:D015352", "SNOMEDCT_US:302896008", "SNOMEDCT_US:363677007", "SNOMEDCT_US:46152009", "UMLS:C0013238", "UMLS:C0022575", "UMLS:C0043349", "UMLS:C2930821" ], "is_a": [ "HP:0001096" ], "is_obsolete": "", "replace_id": "" }, "HP:0001098": { "name": [ "abnormal fundus morphology", "abnormal fundus morphology" ], "alt_id": [], "def": "Any structural abnormality of the fundus of the eye.", "synonym": [ [ "abnormality of the fundus", "abnormality of the fundus" ] ], "xref": [ "UMLS:C4025804" ], "is_a": [ "HP:0004329" ], "is_obsolete": "", "replace_id": "" }, "HP:0001099": { "name": [ "fundus atrophy", "fundus atrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C2673929" ], "is_a": [ "HP:0001098" ], "is_obsolete": "", "replace_id": "" }, "HP:0001100": { "name": [ "heterochromia iridis", "heterochromia iridis" ], "alt_id": [], "def": "Heterochromia iridis is a difference in the color of the iris in the two eyes.", "synonym": [ [ "different colored eyes", "different color eye" ], [ "different coloured eyes", "different colour eye" ], [ "heterochromia irides", "heterochromia iris" ] ], "xref": [ "MSH:C538115", "SNOMEDCT_US:247033008", "UMLS:C0423318" ], "is_a": [ "HP:0200064" ], "is_obsolete": "", "replace_id": "" }, "HP:0001101": { "name": [ "iritis", "iritis" ], "alt_id": [], "def": "Inflammation of the iris.", "synonym": [ [ "inflammation of iris", "inflammation of iris" ] ], "xref": [ "MSH:D007500", "SNOMEDCT_US:65074000", "UMLS:C0022081" ], "is_a": [ "HP:0000525" ], "is_obsolete": "", "replace_id": "" }, "HP:0001102": { "name": [ "angioid streaks of the fundus", "angioid streak of the fundus" ], "alt_id": [], "def": "Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic.", "synonym": [ [ "angioid streaks", "angioid streak" ], [ "angioid streaks of the retina", "angioid streak of the retina" ], [ "angioid streaks , retina", "angioid streak , retina" ], [ "knapp streaks", "knapp streak" ], [ "laquer cracks of the retina", "laquer crack of the retina" ] ], "xref": [ "MSH:D000793", "UMLS:C0002982" ], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0001103": { "name": [ "abnormal macular morphology", "abnormal macular morphology" ], "alt_id": [], "def": "A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.", "synonym": [ [ "abnormality of the macula", "abnormality of the macula" ], [ "macula abnormality", "macula abnormality" ], [ "macular abnormality", "macular abnormality" ] ], "xref": [ "SNOMEDCT_US:312999006", "UMLS:C0730362" ], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0001104": { "name": [ "macular hypoplasia", "macular hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the macula lutea.", "synonym": [], "xref": [ "UMLS:C1849412" ], "is_a": [ "HP:0008059" ], "is_obsolete": "", "replace_id": "" }, "HP:0001105": { "name": [ "retinal atrophy", "retinal atrophy" ], "alt_id": [], "def": "Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.", "synonym": [], "xref": [ "MSH:D012162", "SNOMEDCT_US:405722004", "SNOMEDCT_US:95695004", "UMLS:C0035304", "UMLS:C0521694" ], "is_a": [ "HP:0000546" ], "is_obsolete": "", "replace_id": "" }, "HP:0001106": { "name": [ "periorbital hyperpigmentation", "periorbital hyperpigmentation" ], "alt_id": [], "def": "Increased pigmentation of the skin in the region surrounding the orbit of the eye.", "synonym": [ [ "dark circles around the eyes", "dark circle around the eye" ], [ "dark circles under the eyes", "dark circle under the eye" ], [ "darkening around the eyes", "darken around the eye" ], [ "idiopathic cutaneous hyperchromia at the orbital region", "idiopathic cutaneous hyperchromia at the orbital region" ], [ "infraorbital pigmentation", "infraorbital pigmentation" ], [ "periorbital melanosis", "periorbital melanosis" ], [ "pigmentation around the eyes", "pigmentation around the eye" ] ], "xref": [ "UMLS:C1844606" ], "is_a": [ "HP:0000606", "HP:0001000" ], "is_obsolete": "", "replace_id": "" }, "HP:0001107": { "name": [ "ocular albinism", "ocular albinism" ], "alt_id": [ "HP:0007745", "HP:0007837" ], "def": "An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.", "synonym": [ [ "absent pigmentation in the eye", "absent pigmentation in the eye" ], [ "albinism , ocular", "albinism , ocular" ] ], "xref": [ "MSH:D016117", "SNOMEDCT_US:26399002", "UMLS:C0078917" ], "is_a": [ "HP:0001098", "HP:0007730" ], "is_obsolete": "", "replace_id": "" }, "HP:0001112": { "name": [ "leber optic atrophy", "leber optic atrophy" ], "alt_id": [ "HP:0001086" ], "def": "Degeneration of retinal ganglion cells and their axons.", "synonym": [ [ "leber optic atrophy features", "leber optic atrophy feature" ], [ "leber optic degeneration", "leber optic degeneration" ] ], "xref": [ "MSH:D029242", "SNOMEDCT_US:58610003", "UMLS:C0917796" ], "is_a": [ "HP:0000587" ], "is_obsolete": "", "replace_id": "" }, "HP:0001113": { "name": [ "obsolete early cataracts", "obsolete early cataract" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000518" }, "HP:0001114": { "name": [ "xanthelasma", "xanthelasma" ], "alt_id": [], "def": "The presence of xanthomata in the skin of the eyelid.", "synonym": [ [ "fatty deposits in skin around the eyes", "fatty deposit in skin around the eye" ], [ "fatty deposits on eyelids", "fatty deposit on eyelid" ], [ "xanthelasma of eyelid", "xanthelasma of eyelid" ], [ "xanthelasma of periocular region", "xanthelasma of periocular region" ], [ "xanthelasma palpebrarum", "xanthelasma palpebrarum" ], [ "xanthoma", "xanthoma" ], [ "xanthoma of eyelid", "xanthoma of eyelid" ], [ "xanthoma of periocular region", "xanthoma of periocular region" ] ], "xref": [ "MSH:D014973", "SNOMEDCT_US:63103006", "SNOMEDCT_US:6400008", "SNOMEDCT_US:75594004", "UMLS:C0155210", "UMLS:C0302314", "UMLS:C4280601", "UMLS:C4280602" ], "is_a": [ "HP:0000991", "HP:0010732" ], "is_obsolete": "", "replace_id": "" }, "HP:0001115": { "name": [ "posterior polar cataract", "posterior polar cataract" ], "alt_id": [], "def": "A polar cataract that affects the posterior pole of the lens.", "synonym": [ [ "polar cataract , posterior", "polar cataract , posterior" ] ], "xref": [ "UMLS:C1850191" ], "is_a": [ "HP:0010696" ], "is_obsolete": "", "replace_id": "" }, "HP:0001116": { "name": [ "macular coloboma", "macular coloboma" ], "alt_id": [], "def": "A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented.", "synonym": [ [ "coloboma of the macula", "coloboma of the macula" ] ], "xref": [ "MSH:C535968", "UMLS:C1852767" ], "is_a": [ "HP:0000480", "HP:0001103" ], "is_obsolete": "", "replace_id": "" }, "HP:0001117": { "name": [ "sudden loss of visual acuity", "sudden loss of visual acuity" ], "alt_id": [], "def": "Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.", "synonym": [ [ "sudden central visual loss", "sudden central visual loss" ], [ "sudden decrease in vision", "sudden decrease in vision" ] ], "xref": [ "UMLS:C4025803", "UMLS:C4072828", "UMLS:C4280600" ], "is_a": [ "HP:0007663" ], "is_obsolete": "", "replace_id": "" }, "HP:0001118": { "name": [ "juvenile cataract", "juvenile cataract" ], "alt_id": [], "def": "A type of cataract that is not apparent at birth but that arises in childhood or adolescence.", "synonym": [], "xref": [ "SNOMEDCT_US:399336001", "UMLS:C0302254" ], "is_a": [ "HP:0000518" ], "is_obsolete": "", "replace_id": "" }, "HP:0001119": { "name": [ "keratoglobus", "keratoglobus" ], "alt_id": [], "def": "Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.", "synonym": [], "xref": [ "UMLS:C3887531" ], "is_a": [ "HP:0007700", "HP:0100689", "HP:0100692" ], "is_obsolete": "", "replace_id": "" }, "HP:0001120": { "name": [ "abnormality of corneal size", "abnormality of corneal size" ], "alt_id": [], "def": "Any abnormality of the size or morphology of the cornea.", "synonym": [], "xref": [ "UMLS:C4025802" ], "is_a": [ "HP:0000481" ], "is_obsolete": "", "replace_id": "" }, "HP:0001122": { "name": [ "obsolete aplasia / hypoplasia of the choroid", "obsolete aplasia / hypoplasia of the choroid" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0001123": { "name": [ "visual field defect", "visual field defect" ], "alt_id": [], "def": "", "synonym": [ [ "partial loss of field of vision", "partial loss of field of vision" ], [ "visual field defects", "visual field defect" ] ], "xref": [ "SNOMEDCT_US:12184005", "UMLS:C3887875" ], "is_a": [ "HP:0000505" ], "is_obsolete": "", "replace_id": "" }, "HP:0001125": { "name": [ "transient unilateral blurring of vision", "transient unilateral blurring of vision" ], "alt_id": [ "HP:0000583" ], "def": "Transient blurring of vision associated with the aura phase of migraine.", "synonym": [ [ "hemianopic blurring", "hemianopic blurring" ], [ "hemianoptic blurring of vision", "hemianoptic blurring of vision" ], [ "transient unilateral blurred vision", "transient unilateral blur vision" ] ], "xref": [ "UMLS:C1865332" ], "is_a": [ "HP:0000622" ], "is_obsolete": "", "replace_id": "" }, "HP:0001126": { "name": [ "cryptophthalmos", "cryptophthalmos" ], "alt_id": [ "HP:0008032" ], "def": "Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.", "synonym": [], "xref": [ "SNOMEDCT_US:400951005", "UMLS:C0311249" ], "is_a": [ "HP:0011226" ], "is_obsolete": "", "replace_id": "" }, "HP:0001128": { "name": [ "trichiasis", "trichiasis" ], "alt_id": [], "def": "Inversion and rubbing of the eyelashes against the globe of the eye.", "synonym": [ [ "ingrown eyelashes", "ingrown eyelash" ], [ "introversion of eyelashes", "introversion of eyelash" ], [ "trichiasis of eyelid eyelashes", "trichiasis of eyelid eyelash" ] ], "xref": [ "MSH:D058457", "SNOMEDCT_US:60332004", "UMLS:C0221259" ], "is_a": [ "HP:0000499" ], "is_obsolete": "", "replace_id": "" }, "HP:0001129": { "name": [ "large central visual field defect", "large central visual field defect" ], "alt_id": [], "def": "", "synonym": [ [ "large central loss of field of vision", "large central loss of field of vision" ] ], "xref": [ "UMLS:C4025800" ], "is_a": [ "HP:0001123" ], "is_obsolete": "", "replace_id": "" }, "HP:0001131": { "name": [ "corneal dystrophy", "corneal dystrophy" ], "alt_id": [ "HP:0007775" ], "def": "An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.", "synonym": [], "xref": [ "SNOMEDCT_US:5587004", "UMLS:C0010036" ], "is_a": [ "HP:0000481" ], "is_obsolete": "", "replace_id": "" }, "HP:0001132": { "name": [ "lens subluxation", "lens subluxation" ], "alt_id": [], "def": "Partial dislocation of the lens of the eye.", "synonym": [ [ "partially dislocated lens", "partially dislocate lens" ] ], "xref": [ "MSH:D007906", "SNOMEDCT_US:65814009", "UMLS:C0023316" ], "is_a": [ "HP:0001083" ], "is_obsolete": "", "replace_id": "" }, "HP:0001133": { "name": [ "constriction of peripheral visual field", "constriction of peripheral visual field" ], "alt_id": [ "HP:0007887", "HP:0007981" ], "def": "An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.", "synonym": [ [ "concentric narrowing of visual field", "concentric narrowing of visual field" ], [ "constricted visual field", "constrict visual field" ], [ "constricted visual fields", "constrict visual field" ], [ "limited peripheral vision", "limited peripheral vision" ], [ "visual field constriction", "visual field constriction" ] ], "xref": [ "SNOMEDCT_US:1151008", "SNOMEDCT_US:267628004", "UMLS:C0235095" ], "is_a": [ "HP:0001123" ], "is_obsolete": "", "replace_id": "" }, "HP:0001134": { "name": [ "anterior polar cataract", "anterior polar cataract" ], "alt_id": [], "def": "A polar cataract that affects the anterior pole of the lens.", "synonym": [ [ "polar cataract , anterior", "polar cataract , anterior" ] ], "xref": [ "MSH:C538282", "UMLS:C1855179" ], "is_a": [ "HP:0010696" ], "is_obsolete": "", "replace_id": "" }, "HP:0001135": { "name": [ "chorioretinal dystrophy", "chorioretinal dystrophy" ], "alt_id": [ "HP:0007712", "HP:0007920" ], "def": "", "synonym": [], "xref": [ "UMLS:C1857627" ], "is_a": [ "HP:0000532", "HP:0000556" ], "is_obsolete": "", "replace_id": "" }, "HP:0001136": { "name": [ "retinal arteriolar tortuosity", "retinal arteriolar tortuosity" ], "alt_id": [], "def": "The presence of an increased number of twists and turns of the retinal arterioles.", "synonym": [ [ "tortuous retinal arterioles", "tortuous retinal arteriole" ] ], "xref": [ "UMLS:C1843517" ], "is_a": [ "HP:0000630", "HP:0012841" ], "is_obsolete": "", "replace_id": "" }, "HP:0001137": { "name": [ "alternating esotropia", "alternate esotropia" ], "alt_id": [], "def": "Esotropia in which either eye may be used for fixation.", "synonym": [ [ "alternating cross eyes", "alternate cross eye" ] ], "xref": [ "SNOMEDCT_US:39837002", "UMLS:C0152205" ], "is_a": [ "HP:0000565" ], "is_obsolete": "", "replace_id": "" }, "HP:0001138": { "name": [ "optic neuropathy", "optic neuropathy" ], "alt_id": [ "HP:0007806" ], "def": "", "synonym": [ [ "damaged optic nerve", "damage optic nerve" ] ], "xref": [ "SNOMEDCT_US:82108004", "UMLS:C3887709" ], "is_a": [ "HP:0000587" ], "is_obsolete": "", "replace_id": "" }, "HP:0001139": { "name": [ "choroideremia", "choroideremia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D015794", "SNOMEDCT_US:75241009", "UMLS:C0008525" ], "is_a": [ "HP:0000610" ], "is_obsolete": "", "replace_id": "" }, "HP:0001140": { "name": [ "limbal dermoid", "limbal dermoid" ], "alt_id": [], "def": "A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).", "synonym": [ [ "benign eye tumor", "benign eye tumor" ], [ "benign eye tumour", "benign eye tumour" ], [ "epibulbar dermoid", "epibulbar dermoid" ], [ "epibulbar dermoids", "epibulbar dermoids" ] ], "xref": [ "SNOMEDCT_US:5131000119107", "SNOMEDCT_US:92097004", "UMLS:C0496897", "UMLS:C1867616" ], "is_a": [ "HP:0000481", "HP:0000502", "HP:0000591" ], "is_obsolete": "", "replace_id": "" }, "HP:0001141": { "name": [ "severely reduced visual acuity", "severely reduce visual acuity" ], "alt_id": [ "HP:0007640", "HP:0007842", "HP:0007951", "HP:0008023" ], "def": "Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation).", "synonym": [ [ "marked vision impairment", "mark vision impairment" ], [ "severe reduction in visual acuity", "severe reduction in visual acuity" ], [ "severe vision loss", "severe vision loss" ], [ "severe visual impairment", "severe visual impairment" ], [ "severe visual loss", "severe visual loss" ], [ "severely impaired vision", "severely impaired vision" ] ], "xref": [ "SNOMEDCT_US:397541004", "UMLS:C1301509" ], "is_a": [ "HP:0007663" ], "is_obsolete": "", "replace_id": "" }, "HP:0001142": { "name": [ "lenticonus", "lenticonus" ], "alt_id": [], "def": "A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.", "synonym": [], "xref": [ "SNOMEDCT_US:253221000", "UMLS:C0239119" ], "is_a": [ "HP:0011526" ], "is_obsolete": "", "replace_id": "" }, "HP:0001144": { "name": [ "orbital cyst", "orbital cyst" ], "alt_id": [], "def": "Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).", "synonym": [ [ "cyst of eye socket", "cyst of eye socket" ], [ "orbital cysts", "orbital cyst" ] ], "xref": [ "SNOMEDCT_US:31021007", "UMLS:C0155285" ], "is_a": [ "HP:0000315" ], "is_obsolete": "", "replace_id": "" }, "HP:0001145": { "name": [ "obsolete chorioretinopathy", "obsolete chorioretinopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0001146": { "name": [ "obsolete pigmentary retinal degeneration", "obsolete pigmentary retinal degeneration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000580" }, "HP:0001147": { "name": [ "retinal exudate", "retinal exudate" ], "alt_id": [], "def": "Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.", "synonym": [ [ "retinal exudates", "retinal exudate" ] ], "xref": [ "SNOMEDCT_US:39832008", "UMLS:C0240897" ], "is_a": [ "HP:0030506" ], "is_obsolete": "", "replace_id": "" }, "HP:0001149": { "name": [ "lattice corneal dystrophy", "lattice corneal dystrophy" ], "alt_id": [], "def": "The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.", "synonym": [ [ "biber haab dimmer dystrophy", "biber haab dimmer dystrophy" ] ], "xref": [ "MSH:D028227", "SNOMEDCT_US:1192004", "SNOMEDCT_US:361199007", "UMLS:C0155127" ], "is_a": [ "HP:0001131" ], "is_obsolete": "", "replace_id": "" }, "HP:0001150": { "name": [ "obsolete choroidal sclerosis", "obsolete choroidal sclerosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0001151": { "name": [ "impaired horizontal smooth pursuit", "impaired horizontal smooth pursuit" ], "alt_id": [], "def": "An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.", "synonym": [ [ "abnormal horizontal ocular pursuit", "abnormal horizontal ocular pursuit" ], [ "impaired horizontal visual pursuit", "impaired horizontal visual pursuit" ] ], "xref": [ "UMLS:C1866753" ], "is_a": [ "HP:0007772" ], "is_obsolete": "", "replace_id": "" }, "HP:0001152": { "name": [ "saccadic smooth pursuit", "saccadic smooth pursuit" ], "alt_id": [ "HP:0000530" ], "def": "An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.", "synonym": [ [ "saccadic pursuit movements", "saccadic pursuit movement" ], [ "saccadic slow pursuit", "saccadic slow pursuit" ] ], "xref": [ "UMLS:C1836479" ], "is_a": [ "HP:0000617" ], "is_obsolete": "", "replace_id": "" }, "HP:0001153": { "name": [ "septate vagina", "septate vagina" ], "alt_id": [], "def": "The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.", "synonym": [ [ "double vagina", "double vagina" ] ], "xref": [ "SNOMEDCT_US:47054003", "UMLS:C0266411" ], "is_a": [ "HP:0000142" ], "is_obsolete": "", "replace_id": "" }, "HP:0001155": { "name": [ "abnormality of the hand", "abnormality of the hand" ], "alt_id": [ "HP:0005858" ], "def": "An abnormality affecting one or both hands.", "synonym": [ [ "abnormal hands", "abnormal hand" ], [ "abnormality of the hand", "abnormality of the hand" ], [ "hand anomalies", "hand anomaly" ], [ "hand deformities", "hand deformity" ] ], "xref": [ "MSH:D006226", "SNOMEDCT_US:299033004", "UMLS:C0018564" ], "is_a": [ "HP:0002817" ], "is_obsolete": "", "replace_id": "" }, "HP:0001156": { "name": [ "brachydactyly", "brachydactyly" ], "alt_id": [ "HP:0001189", "HP:0001201", "HP:0005630", "HP:0005657", "HP:0005727", "HP:0006017", "HP:0006128", "HP:0100667" ], "def": "Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.", "synonym": [ [ "brachydactyly syndrome", "brachydactyly syndrome" ], [ "short fingers or toes", "short finger or toe" ] ], "xref": [ "MSH:D059327", "SNOMEDCT_US:43476002", "UMLS:C0221357" ], "is_a": [ "HP:0011927" ], "is_obsolete": "", "replace_id": "" }, "HP:0001159": { "name": [ "syndactyly", "syndactyly" ], "alt_id": [ "HP:0001206", "HP:0001236" ], "def": "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\", "synonym": [ [ "webbed fingers or toes", "webbed finger or toe" ] ], "xref": [ "Fyler:4174", "MSH:D013576", "SNOMEDCT_US:373413006", "UMLS:C0039075" ], "is_a": [ "HP:0011297" ], "is_obsolete": "", "replace_id": "" }, "HP:0001161": { "name": [ "hand polydactyly", "hand polydactyly" ], "alt_id": [], "def": "A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.", "synonym": [ [ "extra finger", "extra finger" ], [ "finger polydactyly", "finger polydactyly" ], [ "polydactyly of the hand", "polydactyly of the hand" ], [ "supernumerary finger", "supernumerary finger" ] ], "xref": [ "MEDDRA:10036064 \"Polydactyly of fingers\"", "SNOMEDCT_US:81793007", "UMLS:C0158733" ], "is_a": [ "HP:0009997", "HP:0010442" ], "is_obsolete": "", "replace_id": "" }, "HP:0001162": { "name": [ "postaxial hand polydactyly", "postaxial hand polydactyly" ], "alt_id": [ "HP:0004698", "HP:0005763", "HP:0009984" ], "def": "Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).", "synonym": [ [ "extra little finger", "extra little finger" ], [ "extra pinkie finger", "extra pinkie finger" ], [ "extra pinky finger", "extra pinky finger" ], [ "polydactyly affecting the 5th finger", "polydactyly affect the 5th finger" ], [ "postaxial polydactyly of fingers", "postaxial polydactyly of finger" ], [ "postaxial polydactyly of hand", "postaxial polydactyly of hand" ], [ "postaxial polydactyly of hands", "postaxial polydactyly of hand" ] ], "xref": [ "SNOMEDCT_US:205131007", "UMLS:C0431904" ], "is_a": [ "HP:0001161", "HP:0004207", "HP:0100259" ], "is_obsolete": "", "replace_id": "" }, "HP:0001163": { "name": [ "abnormality of the metacarpal bones", "abnormality of the metacarpal bone" ], "alt_id": [], "def": "An abnormality of the metacarpal bones.", "synonym": [ [ "abnormality of the long bone of hand", "abnormality of the long bone of hand" ], [ "anomaly of the metacarpal bones", "anomaly of the metacarpal bone" ] ], "xref": [ "UMLS:C4021785" ], "is_a": [ "HP:0001155", "HP:0040070" ], "is_obsolete": "", "replace_id": "" }, "HP:0001166": { "name": [ "arachnodactyly", "arachnodactyly" ], "alt_id": [ "HP:0001505" ], "def": "Abnormally long and slender fingers (\\\"spider fingers\\\").", "synonym": [ [ "long slender fingers", "long slender finger" ], [ "long , slender fingers", "long , slender finger" ], [ "spider fingers", "spider finger" ] ], "xref": [ "MSH:D054119", "SNOMEDCT_US:62250003", "UMLS:C0003706" ], "is_a": [ "HP:0001238", "HP:0100807" ], "is_obsolete": "", "replace_id": "" }, "HP:0001167": { "name": [ "abnormality of finger", "abnormality of finger" ], "alt_id": [ "HP:0003035" ], "def": "An anomaly of a finger.", "synonym": [ [ "abnormalities of the fingers", "abnormality of the finger" ], [ "abnormality of finger", "abnormality of finger" ] ], "xref": [ "UMLS:C2674737" ], "is_a": [ "HP:0001155", "HP:0011297" ], "is_obsolete": "", "replace_id": "" }, "HP:0001169": { "name": [ "broad palm", "broad palm" ], "alt_id": [ "HP:0001174" ], "def": "For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.", "synonym": [ [ "broad hand", "broad hand" ], [ "broad hands", "broad hand" ], [ "broad palm", "broad palm" ], [ "wide palm", "wide palm" ] ], "xref": [ "SNOMEDCT_US:48251003", "UMLS:C0264142" ], "is_a": [ "HP:0100871" ], "is_obsolete": "", "replace_id": "" }, "HP:0001171": { "name": [ "split hand", "split hand" ], "alt_id": [ "HP:0001247", "HP:0003050" ], "def": "A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.", "synonym": [ [ "claw hand", "claw hand" ], [ "claw hand deformities", "claw hand deformity" ], [ "claw hands", "claw hand" ], [ "claw - hand deformities", "claw - hand deformity" ], [ "ectrodactyly of the hand", "ectrodactyly of the hand" ], [ "hand ectrodactyly", "hand ectrodactyly" ], [ "split hand", "split hand" ], [ "split - hand", "split - hand" ] ], "xref": [ "SNOMEDCT_US:299034005", "UMLS:C0221373" ], "is_a": [ "HP:0001155", "HP:0100257" ], "is_obsolete": "", "replace_id": "" }, "HP:0001172": { "name": [ "abnormal thumb morphology", "abnormal thumb morphology" ], "alt_id": [], "def": "An abnormal structure of the first digit of the hand.", "synonym": [ [ "abnormality of the thumb", "abnormality of the thumb" ], [ "abnormality of the thumbs", "abnormality of the thumb" ], [ "thumb deformity", "thumb deformity" ] ], "xref": [ "MSH:C536903", "SNOMEDCT_US:299130003", "UMLS:C0575897" ], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0001176": { "name": [ "large hands", "large hand" ], "alt_id": [ "HP:0002820", "HP:0006044", "HP:0006219" ], "def": "", "synonym": [ [ "disproportionately large hands", "disproportionately large hand" ], [ "large hand", "large hand" ], [ "large hands", "large hand" ] ], "xref": [ "SNOMEDCT_US:249752003", "UMLS:C0426870" ], "is_a": [ "HP:0005922" ], "is_obsolete": "", "replace_id": "" }, "HP:0001177": { "name": [ "preaxial hand polydactyly", "preaxial hand polydactyly" ], "alt_id": [ "HP:0005629", "HP:0005634", "HP:0006182", "HP:0009604" ], "def": "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.", "synonym": [ [ "extra thumb", "extra thumb" ], [ "polydactyly affecting the thumb", "polydactyly affect the thumb" ], [ "preaxial polydactyly of hands", "preaxial polydactyly of hand" ], [ "supernumerary thumb", "supernumerary thumb" ], [ "thumb polydactyly", "thumb polydactyly" ] ], "xref": [ "MSH:C536332", "SNOMEDCT_US:205135003", "SNOMEDCT_US:445216006", "UMLS:C1395852" ], "is_a": [ "HP:0001161", "HP:0001172", "HP:0100258" ], "is_obsolete": "", "replace_id": "" }, "HP:0001178": { "name": [ "ulnar claw", "ulnar claw" ], "alt_id": [], "def": "An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.", "synonym": [], "xref": [ "UMLS:C4025799" ], "is_a": [ "HP:0001155" ], "is_obsolete": "", "replace_id": "" }, "HP:0001180": { "name": [ "hand oligodactyly", "hand oligodactyly" ], "alt_id": [], "def": "A developmental defect resulting in the presence of fewer than the normal number of fingers.", "synonym": [ [ "hand has less than 5 fingers", "hand have less than 5 finger" ] ], "xref": [ "SNOMEDCT_US:71358006", "UMLS:C0728895" ], "is_a": [ "HP:0009380", "HP:0012165" ], "is_obsolete": "", "replace_id": "" }, "HP:0001181": { "name": [ "adducted thumb", "adduct thumb" ], "alt_id": [ "HP:0005646" ], "def": "In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.", "synonym": [ [ "adducted thumbs", "adduct thumb" ], [ "inward turned thumb", "inward turn thumb" ] ], "xref": [ "UMLS:C3554617" ], "is_a": [ "HP:0001172" ], "is_obsolete": "", "replace_id": "" }, "HP:0001182": { "name": [ "tapered finger", "taper finger" ], "alt_id": [ "HP:0005795", "HP:0005800", "HP:0006032", "HP:0006080", "HP:0006098", "HP:0006111", "HP:0006125", "HP:0006244", "HP:0007532" ], "def": "The gradual reduction in girth of the finger from proximal to distal.", "synonym": [ [ "distally tapering fingers", "distally taper finger" ], [ "tapered finger", "taper finger" ], [ "tapered fingers", "tapered finger" ], [ "tapered fingertips", "taper fingertip" ], [ "tapering fingers", "taper finger" ] ], "xref": [ "SNOMEDCT_US:249768009", "UMLS:C0426886" ], "is_a": [ "HP:0100807" ], "is_obsolete": "", "replace_id": "" }, "HP:0001187": { "name": [ "hyperextensibility of the finger joints", "hyperextensibility of the finger joint" ], "alt_id": [ "HP:0006158" ], "def": "The ability of the finger joints to move beyond their normal range of motion.", "synonym": [ [ "finger joint hyperextensibility", "finger joint hyperextensibility" ], [ "hyperextensible digits", "hyperextensible digit" ], [ "hyperextensible finger", "hyperextensible finger" ], [ "hyperextensible fingers", "hyperextensible finger" ] ], "xref": [ "UMLS:C1844577" ], "is_a": [ "HP:0006094" ], "is_obsolete": "", "replace_id": "" }, "HP:0001188": { "name": [ "hand clenching", "hand clench" ], "alt_id": [], "def": "An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints.", "synonym": [ [ "clenched hands", "clench hand" ], [ "hand clenching", "hand clench" ] ], "xref": [ "UMLS:C0239815" ], "is_a": [ "HP:0005922" ], "is_obsolete": "", "replace_id": "" }, "HP:0001191": { "name": [ "abnormality of the carpal bones", "abnormality of the carpal bone" ], "alt_id": [], "def": "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).", "synonym": [ [ "abnormal carpal bones", "abnormal carpal bone" ], [ "abnormal wrist bones", "abnormal wrist bone" ], [ "anomalous carpal bones", "anomalous carpal bone" ], [ "carpal bone anomalies", "carpal bone anomaly" ] ], "xref": [ "UMLS:C1840535" ], "is_a": [ "HP:0001155", "HP:0003019" ], "is_obsolete": "", "replace_id": "" }, "HP:0001193": { "name": [ "ulnar deviation of the hand or of fingers of the hand", "ulnar deviation of the hand or of finger of the hand" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4048199" ], "is_a": [ "HP:0009484" ], "is_obsolete": "", "replace_id": "" }, "HP:0001194": { "name": [ "abnormalities of placenta or umbilical cord", "abnormality of placenta or umbilical cord" ], "alt_id": [], "def": "An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).", "synonym": [ [ "abnormalities of placenta or umbilical cord", "abnormality of placenta or umbilical cord" ] ], "xref": [ "UMLS:C4025798" ], "is_a": [ "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0001195": { "name": [ "single umbilical artery", "single umbilical artery" ], "alt_id": [], "def": "Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.", "synonym": [ [ "2 vessel cord", "2 vessel cord" ], [ "2 vessel umbilical cord", "2 vessel umbilical cord" ], [ "only one artery in umbilical cord instead of two", "only one artery in umbilical cord instead of two" ], [ "two vessel cord", "two vessel cord" ], [ "two vessel umbilical cord", "two vessel umbilical cord" ], [ "two - vessel cord", "two - vessel cord" ] ], "xref": [ "MSH:D058529", "SNOMEDCT_US:204470001", "UMLS:C1384670" ], "is_a": [ "HP:0010948", "HP:0011403", "HP:0011425" ], "is_obsolete": "", "replace_id": "" }, "HP:0001196": { "name": [ "short umbilical cord", "short umbilical cord" ], "alt_id": [], "def": "Decreased length of the umbilical cord.", "synonym": [ [ "short umbilical cord", "short umbilical cord" ] ], "xref": [ "SNOMEDCT_US:59795007", "UMLS:C0266786" ], "is_a": [ "HP:0010881" ], "is_obsolete": "", "replace_id": "" }, "HP:0001197": { "name": [ "abnormality of prenatal development or birth", "abnormality of prenatal development or birth" ], "alt_id": [], "def": "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.", "synonym": [ [ "abnormality of prenatal development or birth", "abnormality of prenatal development or birth" ] ], "xref": [ "UMLS:C4025797" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0001199": { "name": [ "triphalangeal thumb", "triphalangeal thumb" ], "alt_id": [ "HP:0005846", "HP:0006194", "HP:0009610", "HP:0009619" ], "def": "A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.", "synonym": [ [ "accessory phalanx of the thumb", "accessory phalanx of the thumb" ], [ "digitalized thumb", "digitalize thumb" ], [ "finger - like thumb", "finger - like thumb" ], [ "triphalangeal thumbs", "triphalangeal thumb" ], [ "triphalangy of thumb", "triphalangy of thumb" ] ], "xref": [ "MSH:C573898", "SNOMEDCT_US:205308004", "UMLS:C0241397" ], "is_a": [ "HP:0009602" ], "is_obsolete": "", "replace_id": "" }, "HP:0001204": { "name": [ "distal symphalangism of hands", "distal symphalangism of hand" ], "alt_id": [ "HP:0006079", "HP:0006116", "HP:0009841", "HP:0009871" ], "def": "The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.", "synonym": [ [ "fused outermost bones of hand", "fuse outermost bone of hand" ], [ "symphalangism affecting the distal phalanges of the hand", "symphalangism affect the distal phalanx of the hand" ], [ "synostosis of distal phalanges", "synostosis of distal phalanx" ], [ "terminal symphalangism", "terminal symphalangism" ] ], "xref": [ "UMLS:C1862158" ], "is_a": [ "HP:0009700", "HP:0009773", "HP:0009832", "HP:0100263" ], "is_obsolete": "", "replace_id": "" }, "HP:0001211": { "name": [ "abnormal fingertip morphology", "abnormal fingertip morphology" ], "alt_id": [], "def": "An abnormal structure of the tip (end) of a finger.", "synonym": [ [ "abnormality of the fingertips", "abnormality of the fingertip" ] ], "xref": [ "UMLS:C4025796" ], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0001212": { "name": [ "prominent fingertip pads", "prominent fingertip pad" ], "alt_id": [ "HP:0001235" ], "def": "A soft tissue prominence of the ventral aspects of the fingertips. The term \\\"persistent fetal fingertip pads\\", "synonym": [ [ "persistence of fingerpads", "persistence of fingerpads" ], [ "persistent fetal fingertip pads", "persistent fetal fingertip pad" ], [ "persistent foetal fingertip pads", "persistent foetal fingertip pad" ], [ "prominent finger pads", "prominent finger pad" ], [ "prominent fingertip pads", "prominent fingertip pad" ] ], "xref": [ "UMLS:C1835807" ], "is_a": [ "HP:0001211", "HP:0011298" ], "is_obsolete": "", "replace_id": "" }, "HP:0001215": { "name": [ "camptodactyly of 2nd - 5th fingers", "camptodactyly of 2nd - 5th finger" ], "alt_id": [], "def": "The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.", "synonym": [], "xref": [ "UMLS:C1859368" ], "is_a": [ "HP:0100490" ], "is_obsolete": "", "replace_id": "" }, "HP:0001216": { "name": [ "delayed ossification of carpal bones", "delay ossification of carpal bone" ], "alt_id": [], "def": "Ossification of carpal bones occurs later than age-adjusted norms.", "synonym": [ [ "carpal delayed ossification", "carpal delay ossification" ], [ "delayed carpal bone age", "delay carpal bone age" ], [ "delayed carpal ossification", "delay carpal ossification" ], [ "delayed maturation of carpal bones", "delay maturation of carpal bone" ], [ "delayed maturation of wrist bone", "delay maturation of wrist bone" ] ], "xref": [ "UMLS:C1841684", "UMLS:C4280599" ], "is_a": [ "HP:0006257" ], "is_obsolete": "", "replace_id": "" }, "HP:0001217": { "name": [ "clubbing", "club" ], "alt_id": [ "HP:0003036", "HP:0005874" ], "def": "Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.", "synonym": [ [ "clubbing of fingers and toes", "clubbing of finger and toe" ], [ "digital clubbing", "digital clubbing" ] ], "xref": [ "SNOMEDCT_US:367004", "UMLS:C0149651" ], "is_a": [ "HP:0011297" ], "is_obsolete": "", "replace_id": "" }, "HP:0001218": { "name": [ "autoamputation", "autoamputation" ], "alt_id": [], "def": "Spontaneous detachment (amputation) of an appendage from the body.", "synonym": [], "xref": [ "UMLS:C1833222" ], "is_a": [ "HP:0040064" ], "is_obsolete": "", "replace_id": "" }, "HP:0001220": { "name": [ "interphalangeal joint contracture of finger", "interphalangeal joint contracture of finger" ], "alt_id": [], "def": "Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.", "synonym": [ [ "interphalangeal joint flexion contractures", "interphalangeal joint flexion contracture" ] ], "xref": [ "UMLS:C4021784" ], "is_a": [ "HP:0012785" ], "is_obsolete": "", "replace_id": "" }, "HP:0001222": { "name": [ "spatulate thumbs", "spatulate thumb" ], "alt_id": [], "def": "Spoon-shaped, broad thumbs.", "synonym": [ [ "spoon shaped thumbs", "spoon shape thumb" ] ], "xref": [ "UMLS:C0241395" ], "is_a": [ "HP:0011304" ], "is_obsolete": "", "replace_id": "" }, "HP:0001223": { "name": [ "pointed proximal second through fifth metacarpals", "point proximal second through fifth metacarpal" ], "alt_id": [], "def": "All of the metacarpal bones of the hand have a pointed proximal appearance.", "synonym": [], "xref": [ "UMLS:C1854787" ], "is_a": [ "HP:0006119" ], "is_obsolete": "", "replace_id": "" }, "HP:0001225": { "name": [ "wrist swelling", "wrist swell" ], "alt_id": [], "def": "", "synonym": [ [ "wrist swelling", "wrist swell" ] ], "xref": [ "UMLS:C0241760" ], "is_a": [ "HP:0003019" ], "is_obsolete": "", "replace_id": "" }, "HP:0001226": { "name": [ "obsolete acral ulceration and osteomyelitis leading to autoamputation of digits", "obsolete acral ulceration and osteomyelitis lead to autoamputation of digit" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0006121" }, "HP:0001227": { "name": [ "abnormality of the thenar eminence", "abnormality of the thenar eminence" ], "alt_id": [], "def": "An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.", "synonym": [ [ "thenar abnormality", "thenar abnormality" ] ], "xref": [ "UMLS:C4021783" ], "is_a": [ "HP:0001421" ], "is_obsolete": "", "replace_id": "" }, "HP:0001230": { "name": [ "broad metacarpals", "broad metacarpal" ], "alt_id": [ "HP:0006024", "HP:0006065" ], "def": "Abnormally broad metacarpal bones.", "synonym": [ [ "wide long bones of hand", "wide long bone of hand" ], [ "wide metacarpals", "wide metacarpal" ] ], "xref": [ "UMLS:C1842229" ], "is_a": [ "HP:0005916" ], "is_obsolete": "", "replace_id": "" }, "HP:0001231": { "name": [ "abnormal fingernail morphology", "abnormal fingernail morphology" ], "alt_id": [], "def": "An abnormality of the fingernails.", "synonym": [ [ "abnormal fingernails", "abnormal fingernail" ], [ "abnormality of the fingernails", "abnormality of the fingernail" ] ], "xref": [ "UMLS:C4021782" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0001232": { "name": [ "nail bed telangiectasia", "nail bed telangiectasia" ], "alt_id": [], "def": "Telangiectases in the area of the nails.", "synonym": [ [ "nail bed telangiectases", "nail bed telangiectases" ] ], "xref": [ "UMLS:C1838167" ], "is_a": [ "HP:0001009", "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0001233": { "name": [ "2 - 3 finger syndactyly", "2 - 3 finger syndactyly" ], "alt_id": [ "HP:0006039", "HP:0006122" ], "def": "Syndactyly with fusion of fingers two and three.", "synonym": [ [ "syndactyly 2nd - 3rd fingers", "syndactyly 2nd - 3rd finger" ], [ "syndactyly , 2 - 3 finger", "syndactyly , 2 - 3 finger" ], [ "webbed 2nd - 3rd fingers", "web 2nd - 3rd finger" ] ], "xref": [ "SNOMEDCT_US:205139009", "UMLS:C0432055" ], "is_a": [ "HP:0006101" ], "is_obsolete": "", "replace_id": "" }, "HP:0001234": { "name": [ "hitchhiker thumb", "hitchhiker thumb" ], "alt_id": [], "def": "With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.", "synonym": [ [ "abducted thumb", "abduct thumb" ], [ "hitchhiker thumb", "hitchhiker thumb" ] ], "xref": [ "UMLS:C1857269" ], "is_a": [ "HP:0009466", "HP:0009603", "HP:0009617" ], "is_obsolete": "", "replace_id": "" }, "HP:0001238": { "name": [ "slender finger", "slender finger" ], "alt_id": [], "def": "Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.", "synonym": [ [ "narrow fingers", "narrow finger" ], [ "slender finger", "slender finger" ], [ "slender fingers", "slender finger" ], [ "thin fingers", "thin finger" ] ], "xref": [ "UMLS:C1857482" ], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0001239": { "name": [ "wrist flexion contracture", "wrist flexion contracture" ], "alt_id": [ "HP:0006049", "HP:0006137" ], "def": "A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.", "synonym": [ [ "wrist contracture", "wrist contracture" ], [ "wrist flexion deformity", "wrist flexion deformity" ] ], "xref": [ "SNOMEDCT_US:202275008", "UMLS:C0409345" ], "is_a": [ "HP:0003019", "HP:0100360" ], "is_obsolete": "", "replace_id": "" }, "HP:0001241": { "name": [ "capitate - hamate fusion", "capitate - hamate fusion" ], "alt_id": [], "def": "", "synonym": [ [ "capitate - hamate fusions", "capitate - hamate fusion" ], [ "fused capitate and hamate", "fuse capitate and hamate" ], [ "fusion of capitate and hamate", "fusion of capitate and hamate" ], [ "fusion of hamate and capitate", "fusion of hamate and capitate" ] ], "xref": [ "UMLS:C1857002" ], "is_a": [ "HP:0004259", "HP:0004262", "HP:0009702" ], "is_obsolete": "", "replace_id": "" }, "HP:0001245": { "name": [ "small thenar eminence", "small thenar eminence" ], "alt_id": [ "HP:0006188" ], "def": "Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.", "synonym": [ [ "decreased thenar eminence", "decrease thenar eminence" ], [ "hypoplastic thenar eminences", "hypoplastic thenar eminence" ], [ "thenar hypoplasia", "thenar hypoplasia" ], [ "thenar muscle hypoplasia", "thenar muscle hypoplasia" ] ], "xref": [ "UMLS:C1846474" ], "is_a": [ "HP:0001227" ], "is_obsolete": "", "replace_id": "" }, "HP:0001248": { "name": [ "short tubular bones of the hand", "short tubular bone of the hand" ], "alt_id": [], "def": "Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.", "synonym": [ [ "shortened short tubular bones of the hand", "shorten short tubular bone of the hand" ] ], "xref": [ "UMLS:C4025795" ], "is_a": [ "HP:0001155", "HP:0003026" ], "is_obsolete": "", "replace_id": "" }, "HP:0001249": { "name": [ "intellectual disability", "intellectual disability" ], "alt_id": [ "HP:0000730", "HP:0001267", "HP:0001286", "HP:0002122", "HP:0002192", "HP:0002316", "HP:0002382", "HP:0002386", "HP:0002402", "HP:0002458", "HP:0002482", "HP:0002499", "HP:0002543", "HP:0003767", "HP:0006833", "HP:0006877", "HP:0007154", "HP:0007176", "HP:0007180" ], "def": "Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.", "synonym": [ [ "dull intelligence", "dull intelligence" ], [ "intellectual disability", "intellectual disability" ], [ "low intelligence", "low intelligence" ], [ "mental deficiency", "mental deficiency" ], [ "mental retardation", "mental retardation" ], [ "mental retardation , nonspecific", "mental retardation , nonspecific" ], [ "mental - retardation", "mental - retardation" ], [ "nonprogressive intellectual disability", "nonprogressive intellectual disability" ], [ "nonprogressive mental retardation", "nonprogressive mental retardation" ], [ "poor school performance", "poor school performance" ] ], "xref": [ "MSH:D008607", "SNOMEDCT_US:228156007", "SNOMEDCT_US:247578003", "SNOMEDCT_US:91138005", "UMLS:C0025362", "UMLS:C0423903", "UMLS:C0917816", "UMLS:C1843367", "UMLS:C3714756", "UMLS:C4020876" ], "is_a": [ "HP:0011446", "HP:0012759" ], "is_obsolete": "", "replace_id": "" }, "HP:0001250": { "name": [ "seizure", "seizure" ], "alt_id": [ "HP:0001275", "HP:0001303", "HP:0002125", "HP:0002182", "HP:0002279", "HP:0002306", "HP:0002348", "HP:0002391", "HP:0002417", "HP:0002430", "HP:0002431", "HP:0002432", "HP:0002434", "HP:0002437", "HP:0002466", "HP:0002479", "HP:0002794", "HP:0006997", "HP:0010520" ], "def": "A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.", "synonym": [ [ "epilepsy", "epilepsy" ], [ "epileptic seizure", "epileptic seizure" ], [ "seizures", "seizure" ] ], "xref": [ "MSH:D004827", "MSH:D012640", "SNOMEDCT_US:128613002", "SNOMEDCT_US:246545002", "SNOMEDCT_US:313307000", "SNOMEDCT_US:84757009", "SNOMEDCT_US:91175000", "UMLS:C0014544", "UMLS:C0036572" ], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0001251": { "name": [ "ataxia", "ataxia" ], "alt_id": [ "HP:0001253", "HP:0002513", "HP:0007050", "HP:0007157" ], "def": "Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).", "synonym": [ [ "cerebellar ataxia", "cerebellar ataxia" ] ], "xref": [ "MSH:D002524", "SNOMEDCT_US:85102008", "UMLS:C0007758" ], "is_a": [ "HP:0011443" ], "is_obsolete": "", "replace_id": "" }, "HP:0001252": { "name": [ "hypotonia", "hypotonia" ], "alt_id": [ "HP:0011398" ], "def": "Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.", "synonym": [ [ "central hypotonia", "central hypotonia" ], [ "low muscle tone", "low muscle tone" ], [ "low or weak muscle tone", "low or weak muscle tone" ], [ "muscle hypotonia", "muscle hypotonia" ], [ "muscular hypotonia", "muscular hypotonia" ], [ "peripheral hypotonia", "peripheral hypotonia" ] ], "xref": [ "MSH:D009123", "SNOMEDCT_US:398151007", "SNOMEDCT_US:398152000", "UMLS:C0026827" ], "is_a": [ "HP:0003808" ], "is_obsolete": "", "replace_id": "" }, "HP:0001254": { "name": [ "lethargy", "lethargy" ], "alt_id": [], "def": "A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.", "synonym": [ [ "lethargy", "lethargy" ] ], "xref": [ "MSH:D053609", "SNOMEDCT_US:214264003", "UMLS:C0023380" ], "is_a": [ "HP:0004372" ], "is_obsolete": "", "replace_id": "" }, "HP:0001256": { "name": [ "intellectual disability , mild", "intellectual disability , mild" ], "alt_id": [ "HP:0006908", "HP:0007119" ], "def": "Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.", "synonym": [ [ "intellectual disability , mild", "intellectual disability , mild" ], [ "mental retardation , borderline - mild", "mental retardation , borderline - mild" ], [ "mental retardation , mild", "mental retardation , mild" ], [ "mild and nonprogressive mental retardation", "mild and nonprogressive mental retardation" ], [ "mild mental retardation", "mild mental retardation" ] ], "xref": [ "SNOMEDCT_US:86765009", "UMLS:C0026106" ], "is_a": [ "HP:0001249" ], "is_obsolete": "", "replace_id": "" }, "HP:0001257": { "name": [ "spasticity", "spasticity" ], "alt_id": [], "def": "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.", "synonym": [ [ "involuntary muscle stiffness , contraction , or spasm", "involuntary muscle stiffness , contraction , or spasm" ], [ "muscle spasticity", "muscle spasticity" ], [ "muscular spasticity", "muscular spasticity" ] ], "xref": [ "MSH:D009128", "SNOMEDCT_US:221360009", "SNOMEDCT_US:397790002", "UMLS:C0026838" ], "is_a": [ "HP:0001276", "HP:0002493" ], "is_obsolete": "", "replace_id": "" }, "HP:0001258": { "name": [ "spastic paraplegia", "spastic paraplegia" ], "alt_id": [ "HP:0007062", "HP:0007124", "HP:0007216" ], "def": "Spasticity and weakness of the leg and hip muscles.", "synonym": [ [ "spastic paraplegia , lower limb", "spastic paraplegia , low limb" ] ], "xref": [ "MSH:D010264", "SNOMEDCT_US:192967009", "UMLS:C0037772" ], "is_a": [ "HP:0002061", "HP:0010550" ], "is_obsolete": "", "replace_id": "" }, "HP:0001259": { "name": [ "coma", "coma" ], "alt_id": [], "def": "Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.", "synonym": [ [ "coma", "coma" ] ], "xref": [ "ICD-10:R40.2 \"Coma, unspecified\"", "MSH:D003128", "SNOMEDCT_US:371632003", "UMLS:C0009421" ], "is_a": [ "HP:0004372" ], "is_obsolete": "", "replace_id": "" }, "HP:0001260": { "name": [ "dysarthria", "dysarthria" ], "alt_id": [ "HP:0002327" ], "def": "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.", "synonym": [ [ "difficulty articulating speech", "difficulty articulate speech" ], [ "dysarthric speech", "dysarthric speech" ] ], "xref": [ "MSH:D004401", "SNOMEDCT_US:8011004", "UMLS:C0013362" ], "is_a": [ "HP:0002167" ], "is_obsolete": "", "replace_id": "" }, "HP:0001262": { "name": [ "excessive daytime somnolence", "excessive daytime somnolence" ], "alt_id": [ "HP:0002189" ], "def": "A state of abnormally strong desire for sleep during the daytime.", "synonym": [ [ "excessive daytime sleepiness", "excessive daytime sleepiness" ], [ "more than typical sleepiness during day", "more than typical sleepiness during day" ] ], "xref": [ "SNOMEDCT_US:271782001", "SNOMEDCT_US:79519003", "UMLS:C2830004" ], "is_a": [ "HP:0002360", "HP:0004372" ], "is_obsolete": "", "replace_id": "" }, "HP:0001263": { "name": [ "global developmental delay", "global developmental delay" ], "alt_id": [ "HP:0000754", "HP:0001255", "HP:0001277", "HP:0001292", "HP:0002433", "HP:0002473", "HP:0002532", "HP:0006793", "HP:0006867", "HP:0006885", "HP:0006935", "HP:0007005", "HP:0007094", "HP:0007106", "HP:0007174", "HP:0007224", "HP:0007228", "HP:0007342" ], "def": "A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.", "synonym": [ [ "cognitive delay", "cognitive delay" ], [ "delayed cognitive development", "delay cognitive development" ], [ "delayed development", "delay development" ], [ "delayed developmental milestones", "delay developmental milestone" ], [ "delayed intellectual development", "delay intellectual development" ], [ "delayed milestones", "delay milestone" ], [ "delayed psychomotor development", "delay psychomotor development" ], [ "developmental delay", "developmental delay" ], [ "developmental delay in early childhood", "developmental delay in early childhood" ], [ "developmental delay , global", "developmental delay , global" ], [ "developmental retardation", "developmental retardation" ], [ "lack of psychomotor development", "lack of psychomotor development" ], [ "mental and motor retardation", "mental and motor retardation" ], [ "motor and developmental delay", "motor and developmental delay" ], [ "psychomotor delay", "psychomotor delay" ], [ "psychomotor development deficiency", "psychomotor development deficiency" ], [ "psychomotor development failure", "psychomotor development failure" ], [ "psychomotor developmental delay", "psychomotor developmental delay" ], [ "retarded development", "retard development" ], [ "retarded mental development", "retarded mental development" ], [ "retarded psychomotor development", "retarded psychomotor development" ] ], "xref": [ "SNOMEDCT_US:224958001", "UMLS:C0557874", "UMLS:C1864897", "UMLS:C4020875" ], "is_a": [ "HP:0012758" ], "is_obsolete": "", "replace_id": "" }, "HP:0001264": { "name": [ "spastic diplegia", "spastic diplegia" ], "alt_id": [], "def": "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.", "synonym": [ [ "spastic diparesis", "spastic diparesis" ] ], "xref": [ "MSH:D002547", "SNOMEDCT_US:281411007", "UMLS:C0023882" ], "is_a": [ "HP:0001257" ], "is_obsolete": "", "replace_id": "" }, "HP:0001265": { "name": [ "hyporeflexia", "hyporeflexia" ], "alt_id": [ "HP:0002467" ], "def": "Reduction of neurologic reflexes such as the knee-jerk reaction.", "synonym": [ [ "decreased reflex response", "decrease reflex response" ], [ "decreased reflexes", "decrease reflex" ] ], "xref": [ "SNOMEDCT_US:405946002", "UMLS:C0700078" ], "is_a": [ "HP:0001315" ], "is_obsolete": "", "replace_id": "" }, "HP:0001266": { "name": [ "choreoathetosis", "choreoathetosis" ], "alt_id": [ "HP:0002469", "HP:0006811", "HP:0007028", "HP:0007337" ], "def": "Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).", "synonym": [ [ "choreoathetoid movements", "choreoathetoid movement" ] ], "xref": [ "SNOMEDCT_US:43105007", "UMLS:C0085583", "UMLS:C0234967" ], "is_a": [ "HP:0002072" ], "is_obsolete": "", "replace_id": "" }, "HP:0001268": { "name": [ "mental deterioration", "mental deterioration" ], "alt_id": [ "HP:0002303", "HP:0006822", "HP:0007155", "HP:0007253", "HP:0007264", "HP:0007298" ], "def": "Loss of previously present mental abilities, generally in adults.", "synonym": [ [ "cognitive decline", "cognitive decline" ], [ "cognitive decline , progressive", "cognitive decline , progressive" ], [ "intellectual deterioration", "intellectual deterioration" ], [ "mental deterioration", "mental deterioration" ], [ "progressive cognitive decline", "progressive cognitive decline" ] ], "xref": [ "MSH:D060825", "UMLS:C0234985" ], "is_a": [ "HP:0100543" ], "is_obsolete": "", "replace_id": "" }, "HP:0001269": { "name": [ "hemiparesis", "hemiparesis" ], "alt_id": [], "def": "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.", "synonym": [ [ "weakness of one side of body", "weakness of one side of body" ] ], "xref": [ "MSH:D010291", "SNOMEDCT_US:127377003", "SNOMEDCT_US:20022000", "UMLS:C0018989" ], "is_a": [ "HP:0004374" ], "is_obsolete": "", "replace_id": "" }, "HP:0001270": { "name": [ "motor delay", "motor delay" ], "alt_id": [ "HP:0001307", "HP:0002130", "HP:0006788", "HP:0006826", "HP:0006909", "HP:0006950", "HP:0006968", "HP:0007219", "HP:0007251" ], "def": "A type of Developmental delay characterized by a delay in acquiring motor skills.", "synonym": [ [ "delay in motor development", "delay in motor development" ], [ "delayed early motor milestones", "delay early motor milestone" ], [ "delayed motor development", "delay motor development" ], [ "delayed motor milestones", "delay motor milestone" ], [ "locomotor delay", "locomotor delay" ], [ "motor developmental delay", "motor developmental delay" ], [ "motor developmental milestones not achieved", "motor developmental milestone not achieve" ], [ "motor retardation", "motor retardation" ], [ "no development of motor milestones", "no development of motor milestone" ], [ "retarded motor development", "retard motor development" ] ], "xref": [ "UMLS:C1854301", "UMLS:C4020874" ], "is_a": [ "HP:0012758" ], "is_obsolete": "", "replace_id": "" }, "HP:0001271": { "name": [ "polyneuropathy", "polyneuropathy" ], "alt_id": [ "HP:0006941", "HP:0007287" ], "def": "A generalized disorder of peripheral nerves.", "synonym": [ [ "peripheral nerve disease", "peripheral nerve disease" ] ], "xref": [ "MSH:D010523", "MSH:D011115", "SNOMEDCT_US:302226006", "SNOMEDCT_US:42345000", "SNOMEDCT_US:42658009", "UMLS:C0031117", "UMLS:C0152025" ], "is_a": [ "HP:0009830" ], "is_obsolete": "", "replace_id": "" }, "HP:0001272": { "name": [ "cerebellar atrophy", "cerebellar atrophy" ], "alt_id": [ "HP:0002364", "HP:0006839", "HP:0007072", "HP:0007203" ], "def": "Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.", "synonym": [ [ "atrophic cerebellum", "atrophic cerebellum" ], [ "degeneration of cerebellum", "degeneration of cerebellum" ], [ "infratentorial atrophy", "infratentorial atrophy" ] ], "xref": [ "SNOMEDCT_US:95646004", "UMLS:C0262404", "UMLS:C0740279", "UMLS:C4020873" ], "is_a": [ "HP:0001317" ], "is_obsolete": "", "replace_id": "" }, "HP:0001273": { "name": [ "abnormal corpus callosum morphology", "abnormal corpus callosum morphology" ], "alt_id": [ "HP:0007323" ], "def": "Abnormality of the corpus callosum.", "synonym": [ [ "abnormal corpus callosum", "abnormal corpus callosum" ], [ "abnormality of the corpus callosum", "abnormality of the corpus callosum" ], [ "corpus callosum abnormality", "corpus callosum abnormality" ] ], "xref": [ "UMLS:C1842581" ], "is_a": [ "HP:0002500" ], "is_obsolete": "", "replace_id": "" }, "HP:0001274": { "name": [ "agenesis of corpus callosum", "agenesis of corpus callosum" ], "alt_id": [ "HP:0006800" ], "def": "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.", "synonym": [ [ "absence of corpus callosum", "absence of corpus callosum" ], [ "absent corpus callosum", "absent corpus callosum" ], [ "agenesis of the corpus callosum", "agenesis of the corpus callosum" ], [ "callosal agenesis", "callosal agenesis" ], [ "corpus callosum agenesis", "corpus callosum agenesis" ], [ "dysplastic or absent corpus callosum", "dysplastic or absent corpus callosum" ] ], "xref": [ "Fyler:4321", "MSH:D061085", "SNOMEDCT_US:5102002", "UMLS:C0175754" ], "is_a": [ "HP:0007370" ], "is_obsolete": "", "replace_id": "" }, "HP:0001276": { "name": [ "hypertonia", "hypertonia" ], "alt_id": [ "HP:0002388" ], "def": "A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.", "synonym": [ [ "hypertonicity", "hypertonicity" ], [ "increased muscle tone", "increased muscle tone" ], [ "muscle hypertonia", "muscle hypertonia" ], [ "spasticity and rigidity of muscles", "spasticity and rigidity of muscle" ] ], "xref": [ "MSH:D009122", "SNOMEDCT_US:41581000", "SNOMEDCT_US:56731001", "UMLS:C0026826" ], "is_a": [ "HP:0003808" ], "is_obsolete": "", "replace_id": "" }, "HP:0001278": { "name": [ "orthostatic hypotension", "orthostatic hypotension" ], "alt_id": [ "HP:0004932", "HP:0006700" ], "def": "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.", "synonym": [ [ "decrease in blood pressure upon standing up", "decrease in blood pressure upon stand up" ], [ "postural hypotension", "postural hypotension" ] ], "xref": [ "MSH:D007024", "SNOMEDCT_US:28651003", "UMLS:C0020651" ], "is_a": [ "HP:0002615", "HP:0012332" ], "is_obsolete": "", "replace_id": "" }, "HP:0001279": { "name": [ "syncope", "syncope" ], "alt_id": [], "def": "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.", "synonym": [ [ "fainting spell", "fainting spell" ] ], "xref": [ "MSH:D013575", "SNOMEDCT_US:271594007", "SNOMEDCT_US:272030005", "SNOMEDCT_US:309585006", "UMLS:C0039070" ], "is_a": [ "HP:0011025" ], "is_obsolete": "", "replace_id": "" }, "HP:0001281": { "name": [ "tetany", "tetany" ], "alt_id": [], "def": "A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.", "synonym": [ [ "intermittent involuntary muscle spasm", "intermittent involuntary muscle spasm" ] ], "xref": [ "MSH:D013746", "SNOMEDCT_US:10629009", "UMLS:C0039621" ], "is_a": [ "HP:0011804" ], "is_obsolete": "", "replace_id": "" }, "HP:0001283": { "name": [ "bulbar palsy", "bulbar palsy" ], "alt_id": [ "HP:0003441", "HP:0003709" ], "def": "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.", "synonym": [ [ "bulbar muscle weakness", "bulbar muscle weakness" ], [ "bulbar palsies", "bulbar palsy" ], [ "bulbar weakness", "bulbar weakness" ] ], "xref": [ "MSH:D010244", "SNOMEDCT_US:398432008", "UMLS:C1301959", "UMLS:C4082299" ], "is_a": [ "HP:0001324", "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0001284": { "name": [ "areflexia", "areflexia" ], "alt_id": [ "HP:0001314" ], "def": "Absence of neurologic reflexes such as the knee-jerk reaction.", "synonym": [ [ "absent deep tendon reflexes", "absent deep tendon reflex" ], [ "absent reflexes", "absent reflex" ], [ "absent tendon reflexes", "absent tendon reflex" ], [ "deep tendon reflexes absent", "deep tendon reflex absent" ], [ "loss of deep tendon reflexes", "loss of deep tendon reflex" ] ], "xref": [ "MSH:D012021", "SNOMEDCT_US:349006", "SNOMEDCT_US:37280007", "UMLS:C0234146", "UMLS:C0241772", "UMLS:C0278124" ], "is_a": [ "HP:0001315" ], "is_obsolete": "", "replace_id": "" }, "HP:0001285": { "name": [ "spastic tetraparesis", "spastic tetraparesis" ], "alt_id": [ "HP:0002393" ], "def": "Spastic weakness affecting all four limbs.", "synonym": [ [ "spastic quadriparesis", "spastic quadriparesis" ] ], "xref": [ "SNOMEDCT_US:298282001", "UMLS:C0575059" ], "is_a": [ "HP:0001257", "HP:0002273" ], "is_obsolete": "", "replace_id": "" }, "HP:0001287": { "name": [ "meningitis", "meningitis" ], "alt_id": [], "def": "Inflammation of the meninges.", "synonym": [], "xref": [ "MSH:D008581", "SNOMEDCT_US:7180009", "UMLS:C0025289" ], "is_a": [ "HP:0011450" ], "is_obsolete": "", "replace_id": "" }, "HP:0001288": { "name": [ "gait disturbance", "gait disturbance" ], "alt_id": [ "HP:0006953" ], "def": "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.", "synonym": [ [ "abnormal gait", "abnormal gait" ], [ "abnormal walk", "abnormal walk" ], [ "gait abnormalities", "gait abnormality" ], [ "gait difficulties", "gait difficulty" ], [ "gait disturbances", "gait disturbance" ], [ "impaired gait", "impaired gait" ] ], "xref": [ "SNOMEDCT_US:22325002", "UMLS:C0575081" ], "is_a": [ "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0001289": { "name": [ "confusion", "confusion" ], "alt_id": [ "HP:0000731" ], "def": "Lack of clarity and coherence of thought, perception, understanding, or action.", "synonym": [ [ "confusion", "confusion" ], [ "disorientation", "disorientation" ], [ "easily confused", "easily confuse" ], [ "mental disorientation", "mental disorientation" ] ], "xref": [ "MSH:D003221", "SNOMEDCT_US:286933003", "UMLS:C0009676" ], "is_a": [ "HP:0004372" ], "is_obsolete": "", "replace_id": "" }, "HP:0001290": { "name": [ "generalized hypotonia", "generalize hypotonia" ], "alt_id": [], "def": "Generalized muscular hypotonia (abnormally low muscle tone).", "synonym": [ [ "generalised decreased muscle tone", "generalise decreased muscle tone" ], [ "generalised hypotonia", "generalise hypotonia" ], [ "generalised muscular hypotonia", "generalise muscular hypotonia" ], [ "generalized decreased muscle tone", "generalize decreased muscle tone" ], [ "generalized muscular hypotonia", "generalize muscular hypotonia" ], [ "hypotonia , generalised", "hypotonia , generalise" ], [ "hypotonia , generalized", "hypotonia , generalize" ] ], "xref": [ "UMLS:C1858120" ], "is_a": [ "HP:0001252" ], "is_obsolete": "", "replace_id": "" }, "HP:0001291": { "name": [ "abnormal cranial nerve morphology", "abnormal cranial nerve morphology" ], "alt_id": [ "HP:0003480" ], "def": "Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.", "synonym": [ [ "abnormality of cranial nerve", "abnormality of cranial nerve" ], [ "abnormality of the cranial nerves", "abnormality of the cranial nerve" ], [ "cranial nerve abnormality", "cranial nerve abnormality" ], [ "cranial nerve disease", "cranial nerve disease" ], [ "cranial nerve involvement", "cranial nerve involvement" ] ], "xref": [ "UMLS:C1854510", "UMLS:C4020872" ], "is_a": [ "HP:0000759" ], "is_obsolete": "", "replace_id": "" }, "HP:0001293": { "name": [ "cranial nerve compression", "cranial nerve compression" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:95664006", "UMLS:C0521670" ], "is_a": [ "HP:0001291" ], "is_obsolete": "", "replace_id": "" }, "HP:0001297": { "name": [ "stroke", "stroke" ], "alt_id": [ "HP:0002452" ], "def": "Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.", "synonym": [ [ "cerebral vascular events", "cerebral vascular event" ], [ "cerebrovascular accident", "cerebrovascular accident" ], [ "cerebrovascular accidents", "cerebrovascular accident" ], [ "stroke", "stroke" ] ], "xref": [ "MSH:D020521", "SNOMEDCT_US:230690007", "UMLS:C0038454" ], "is_a": [ "HP:0100659" ], "is_obsolete": "", "replace_id": "" }, "HP:0001298": { "name": [ "encephalopathy", "encephalopathy" ], "alt_id": [], "def": "Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.", "synonym": [], "xref": [ "MSH:D001927", "SNOMEDCT_US:81308009", "UMLS:C0085584" ], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0001300": { "name": [ "parkinsonism", "parkinsonism" ], "alt_id": [], "def": "Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.", "synonym": [ [ "parkinsonian disease", "parkinsonian disease" ] ], "xref": [ "MSH:D020734", "SNOMEDCT_US:32798002", "UMLS:C0242422" ], "is_a": [ "HP:0002071" ], "is_obsolete": "", "replace_id": "" }, "HP:0001301": { "name": [ "chronic sensorineural polyneuropathy", "chronic sensorineural polyneuropathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025794" ], "is_a": [ "HP:0009830" ], "is_obsolete": "", "replace_id": "" }, "HP:0001302": { "name": [ "pachygyria", "pachygyria" ], "alt_id": [], "def": "Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.", "synonym": [ [ "cerebral pachygyria", "cerebral pachygyria" ], [ "fewer and broader ridges in brain", "few and broad ridge in brain" ] ], "xref": [ "MSH:D054082", "SNOMEDCT_US:23024003", "UMLS:C0266483" ], "is_a": [ "HP:0001339" ], "is_obsolete": "", "replace_id": "" }, "HP:0001304": { "name": [ "torsion dystonia", "torsion dystonia" ], "alt_id": [], "def": "Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.", "synonym": [ [ "dystonia musculorum deformans", "dystonia musculorum deformans" ] ], "xref": [ "MSH:D004422", "SNOMEDCT_US:22451001", "SNOMEDCT_US:431034009", "UMLS:C0013423" ], "is_a": [ "HP:0001332" ], "is_obsolete": "", "replace_id": "" }, "HP:0001305": { "name": [ "dandy - walker malformation", "dandy - walker malformation" ], "alt_id": [ "HP:0001313", "HP:0006809" ], "def": "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.", "synonym": [ [ "dandy - walker anomaly", "dandy - walker anomaly" ], [ "dandy - walker cyst", "dandy - walker cyst" ] ], "xref": [ "MSH:D003616", "SNOMEDCT_US:14447001", "UMLS:C0010964" ], "is_a": [ "HP:0001320", "HP:0002198", "HP:0002350", "HP:0005445" ], "is_obsolete": "", "replace_id": "" }, "HP:0001308": { "name": [ "tongue fasciculations", "tongue fasciculation" ], "alt_id": [ "HP:0003727" ], "def": "Fasciculations or fibrillation affecting the tongue muscle.", "synonym": [ [ "lingual fasciculations", "lingual fasciculation" ], [ "lingual fibrillations", "lingual fibrillation" ], [ "lingual twitching", "lingual twitching" ], [ "tongue fasciculation", "tongue fasciculation" ], [ "tongue fasciculations / fibrillations", "tongue fasciculation / fibrillation" ], [ "tongue twitching", "tongue twitching" ], [ "twitching of the tongue", "twitching of the tongue" ] ], "xref": [ "MSH:D005207", "SNOMEDCT_US:249878001", "UMLS:C0239548" ], "is_a": [ "HP:0002380", "HP:0010546", "HP:0030810" ], "is_obsolete": "", "replace_id": "" }, "HP:0001310": { "name": [ "dysmetria", "dysmetria" ], "alt_id": [], "def": "A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.", "synonym": [ [ "abnormal finger chase test", "abnormal finger chase test" ], [ "abnormal finger - nose - finger test", "abnormal finger - nose - finger test" ], [ "lack of coordination of movement", "lack of coordination of movement" ] ], "xref": [ "MSH:D002524", "SNOMEDCT_US:32566006", "UMLS:C0234162" ], "is_a": [ "HP:0001251" ], "is_obsolete": "", "replace_id": "" }, "HP:0001311": { "name": [ "abnormal nervous system electrophysiology", "abnormal nervous system electrophysiology" ], "alt_id": [ "HP:0002531", "HP:0003129" ], "def": "An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.", "synonym": [ [ "neurophysiologic abnormalities", "neurophysiologic abnormality" ], [ "neurophysiologic abnormality", "neurophysiologic abnormality" ] ], "xref": [ "UMLS:C4021781" ], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0001312": { "name": [ "giant somatosensory evoked potentials", "giant somatosensory evoke potential" ], "alt_id": [], "def": "An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.", "synonym": [ [ "giant seps", "giant sep" ] ], "xref": [ "UMLS:C3806961" ], "is_a": [ "HP:0007377" ], "is_obsolete": "", "replace_id": "" }, "HP:0001315": { "name": [ "reduced tendon reflexes", "reduce tendon reflex" ], "alt_id": [ "HP:0001316" ], "def": "Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.", "synonym": [ [ "absent or decreased deep tendon reflexes", "absent or decrease deep tendon reflex" ], [ "decreased deep tendon reflexes", "decrease deep tendon reflex" ], [ "decreased tendon reflexes", "decrease tendon reflex" ], [ "decreased to absent deep tendon reflexes", "decrease to absent deep tendon reflex" ], [ "decreased / absent deep tendon reflexes", "decrease / absent deep tendon reflex" ], [ "depressed tendon reflexes", "depressed tendon reflex" ], [ "diminished deep tendon reflexes", "diminish deep tendon reflex" ], [ "diminished or absent deep tendon reflexes", "diminish or absent deep tendon reflex" ], [ "diminished or absent tendon reflexes", "diminish or absent tendon reflex" ], [ "hypoactive to absent deep tendon reflexes", "hypoactive to absent deep tendon reflex" ], [ "impaired tendon reflexes", "impaired tendon reflex" ], [ "reduced / absent deep tendon reflexes", "reduce / absent deep tendon reflex" ], [ "weak or absent deep tendon reflexes", "weak or absent deep tendon reflex" ] ], "xref": [ "UMLS:C1866934" ], "is_a": [ "HP:0031826" ], "is_obsolete": "", "replace_id": "" }, "HP:0001317": { "name": [ "abnormal cerebellum morphology", "abnormal cerebellum morphology" ], "alt_id": [], "def": "Any structural abnormality of the cerebellum.", "synonym": [ [ "abnormality of the cerebellum", "abnormality of the cerebellum" ], [ "cerebellar abnormalities", "cerebellar abnormality" ], [ "cerebellar abnormality", "cerebellar abnormality" ], [ "cerebellar anomaly", "cerebellar anomaly" ], [ "cerebellar signs", "cerebellar sign" ] ], "xref": [ "UMLS:C0742038", "UMLS:C1866129" ], "is_a": [ "HP:0011283" ], "is_obsolete": "", "replace_id": "" }, "HP:0001319": { "name": [ "neonatal hypotonia", "neonatal hypotonia" ], "alt_id": [ "HP:0006830", "HP:0008976" ], "def": "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.", "synonym": [ [ "congenital hypotonia", "congenital hypotonia" ], [ "hypotonia , in neonatal onset", "hypotonia , in neonatal onset" ], [ "hypotonia , neonatal", "hypotonia , neonatal" ], [ "low muscle tone , in neonatal onset", "low muscle tone , in neonatal onset" ] ], "xref": [ "MSH:D009123", "SNOMEDCT_US:205294008", "UMLS:C2267233" ], "is_a": [ "HP:0001252" ], "is_obsolete": "", "replace_id": "" }, "HP:0001320": { "name": [ "cerebellar vermis hypoplasia", "cerebellar vermis hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the vermis of cerebellum.", "synonym": [ [ "cerebellar vermal hypoplasia", "cerebellar vermal hypoplasia" ], [ "hypoplasia of the cerebellar vermis", "hypoplasia of the cerebellar vermis" ], [ "hypoplastic cerebellar vermis", "hypoplastic cerebellar vermis" ] ], "xref": [ "UMLS:C1840379" ], "is_a": [ "HP:0001321", "HP:0006817" ], "is_obsolete": "", "replace_id": "" }, "HP:0001321": { "name": [ "cerebellar hypoplasia", "cerebellar hypoplasia" ], "alt_id": [ "HP:0006806", "HP:0006910", "HP:0007038", "HP:0007053" ], "def": "Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.", "synonym": [ [ "congenital cerebellar hypoplasia", "congenital cerebellar hypoplasia" ], [ "hypoplasia of cerebellum", "hypoplasia of cerebellum" ], [ "hypoplastic cerebellum", "hypoplastic cerebellum" ], [ "small cerebellum", "small cerebellum" ], [ "underdeveloped cerebellum", "underdeveloped cerebellum" ] ], "xref": [ "MSH:C562568", "SNOMEDCT_US:16026008", "UMLS:C0266470" ], "is_a": [ "HP:0007360" ], "is_obsolete": "", "replace_id": "" }, "HP:0001322": { "name": [ "obsolete brain very small", "obsolete brain very small" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0006872" }, "HP:0001324": { "name": [ "muscle weakness", "muscle weakness" ], "alt_id": [ "HP:0002309", "HP:0008979", "HP:0009012", "HP:0009061" ], "def": "Reduced strength of muscles.", "synonym": [ [ "muscle weakness", "muscle weakness" ], [ "muscular weakness", "muscular weakness" ] ], "xref": [ "MSH:D018908", "SNOMEDCT_US:26544005", "UMLS:C0151786" ], "is_a": [ "HP:0011804" ], "is_obsolete": "", "replace_id": "" }, "HP:0001325": { "name": [ "hypoglycemic coma", "hypoglycemic coma" ], "alt_id": [], "def": "", "synonym": [ [ "coma caused by low blood sugar", "coma cause by low blood sugar" ], [ "coma , hypoglycemic", "coma , hypoglycemic" ], [ "hypoglycaemic coma", "hypoglycaemic coma" ], [ "loss of consciousness due to hypoglycemia", "loss of consciousness due to hypoglycemia" ] ], "xref": [ "SNOMEDCT_US:267384006", "UMLS:C0020617" ], "is_a": [ "HP:0001259" ], "is_obsolete": "", "replace_id": "" }, "HP:0001326": { "name": [ "eeg with irregular generalized spike and wave complexes", "eeg with irregular generalize spike and wave complex" ], "alt_id": [], "def": "EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.", "synonym": [ [ "eeg with irregular generalised spike and wave complexes", "eeg with irregular generalise spike and wave complex" ] ], "xref": [ "UMLS:C4025792" ], "is_a": [ "HP:0010850" ], "is_obsolete": "", "replace_id": "" }, "HP:0001327": { "name": [ "photosensitive myoclonic seizure", "photosensitive myoclonic seizure" ], "alt_id": [], "def": "Generalised myoclonic seizure provoked by flashing or flickering light.", "synonym": [ [ "photically induced myoclonic seizure", "photically induce myoclonic seizure" ], [ "photomyoclonic seizure", "photomyoclonic seizure" ], [ "photomyoclonic seizures", "photomyoclonic seizure" ] ], "xref": [ "UMLS:C4025791" ], "is_a": [ "HP:0002123", "HP:0020216" ], "is_obsolete": "", "replace_id": "" }, "HP:0001328": { "name": [ "specific learning disability", "specific learn disability" ], "alt_id": [ "HP:0007234" ], "def": "Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.", "synonym": [], "xref": [ "UMLS:C4025790" ], "is_a": [ "HP:0012759" ], "is_obsolete": "", "replace_id": "" }, "HP:0001331": { "name": [ "absent septum pellucidum", "absent septum pellucidum" ], "alt_id": [ "HP:0006969" ], "def": "Absence of the septum pellucidum.", "synonym": [ [ "absence of septum pellucidum", "absence of septum pellucidum" ], [ "absence of the septum pellucidum", "absence of the septum pellucidum" ], [ "agenesis of the septum pellucidum", "agenesis of the septum pellucidum" ], [ "missing septum pellucidum", "miss septum pellucidum" ] ], "xref": [ "MSH:C535562", "SNOMEDCT_US:253143001", "UMLS:C0431371" ], "is_a": [ "HP:0007375" ], "is_obsolete": "", "replace_id": "" }, "HP:0001332": { "name": [ "dystonia", "dystonia" ], "alt_id": [ "HP:0002328" ], "def": "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.", "synonym": [ [ "dystonic disease", "dystonic disease" ], [ "dystonic movements", "dystonic movement" ] ], "xref": [ "MSH:D004421", "UMLS:C0013421", "UMLS:C4020871" ], "is_a": [ "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0001334": { "name": [ "communicating hydrocephalus", "communicate hydrocephalus" ], "alt_id": [], "def": "A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.", "synonym": [], "xref": [ "MSH:D006849", "SNOMEDCT_US:271569006", "UMLS:C0009451" ], "is_a": [ "HP:0000238" ], "is_obsolete": "", "replace_id": "" }, "HP:0001335": { "name": [ "bimanual synkinesia", "bimanual synkinesia" ], "alt_id": [], "def": "Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.", "synonym": [ [ "hand mirror movements", "hand mirror movement" ], [ "mirror hand movements", "mirror hand movement" ], [ "mirror movements", "mirror movement" ] ], "xref": [ "SNOMEDCT_US:229247004", "UMLS:C0454455" ], "is_a": [ "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0001336": { "name": [ "myoclonus", "myoclonus" ], "alt_id": [ "HP:0002535", "HP:0007087" ], "def": "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.", "synonym": [ [ "involuntary jerking movements", "involuntary jerking movement" ], [ "jerking", "jerking" ], [ "myoclonic jerks", "myoclonic jerk" ] ], "xref": [ "MSH:D009207", "SNOMEDCT_US:127324008", "SNOMEDCT_US:17450006", "UMLS:C0027066", "UMLS:C1854302" ], "is_a": [ "HP:0004305" ], "is_obsolete": "", "replace_id": "" }, "HP:0001337": { "name": [ "tremor", "tremor" ], "alt_id": [ "HP:0001295", "HP:0001309" ], "def": "An unintentional, oscillating to-and-fro muscle movement about a joint axis.", "synonym": [ [ "tremor", "tremor" ], [ "tremors", "tremor" ] ], "xref": [ "MSH:D014202", "SNOMEDCT_US:26079004", "UMLS:C0040822" ], "is_a": [ "HP:0004305" ], "is_obsolete": "", "replace_id": "" }, "HP:0001338": { "name": [ "partial agenesis of the corpus callosum", "partial agenesis of the corpus callosum" ], "alt_id": [ "HP:0006982", "HP:0007090", "HP:0007128" ], "def": "A partial failure of the development of the corpus callosum.", "synonym": [ [ "corpus callosum agenesis , partial", "corpus callosum agenesis , partial" ], [ "partial agenesis of corpus callosum", "partial agenesis of corpus callosum" ], [ "partial corpus callosum agenesis", "partial corpus callosum agenesis" ], [ "partial or complete agenesis of corpus callosum", "partial or complete agenesis of corpus callosum" ], [ "partial or complete agenesis of the corpus callosum", "partial or complete agenesis of the corpus callosum" ], [ "partial to complete agenesis of corpus callosum", "partial to complete agenesis of corpus callosum" ], [ "partial - total agenesis of corpus callosum", "partial - total agenesis of corpus callosum" ] ], "xref": [ "MSH:C536111", "SNOMEDCT_US:253140003", "UMLS:C0431368", "UMLS:C1857278" ], "is_a": [ "HP:0001274" ], "is_obsolete": "", "replace_id": "" }, "HP:0001339": { "name": [ "lissencephaly", "lissencephaly" ], "alt_id": [ "HP:0002537" ], "def": "A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.", "synonym": [ [ "fewer or absent grooves in brain", "few or absent groove in brain" ] ], "xref": [ "MSH:D054082", "SNOMEDCT_US:204036008", "UMLS:C0266463", "UMLS:C1879312" ], "is_a": [ "HP:0002536" ], "is_obsolete": "", "replace_id": "" }, "HP:0001340": { "name": [ "enhancement of the c - reflex", "enhancement of the c - reflex" ], "alt_id": [], "def": "Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.", "synonym": [], "xref": [ "UMLS:C3552824" ], "is_a": [ "HP:0007377" ], "is_obsolete": "", "replace_id": "" }, "HP:0001341": { "name": [ "olfactory lobe agenesis", "olfactory lobe agenesis" ], "alt_id": [], "def": "", "synonym": [ [ "olfactory lobe absence", "olfactory lobe absence" ] ], "xref": [ "UMLS:C1855331" ], "is_a": [ "HP:0025057" ], "is_obsolete": "", "replace_id": "" }, "HP:0001342": { "name": [ "cerebral hemorrhage", "cerebral hemorrhage" ], "alt_id": [ "HP:0002137" ], "def": "Hemorrhage into the parenchyma of the brain.", "synonym": [ [ "bleeding in brain", "bleeding in brain" ], [ "cerebral haemorrhage", "cerebral haemorrhage" ], [ "hemorrhagic stroke", "hemorrhagic stroke" ], [ "intracerebral haemorrhage", "intracerebral haemorrhage" ], [ "intracerebral hemorrhage", "intracerebral hemorrhage" ] ], "xref": [ "MSH:D002543", "MSH:D020300", "SNOMEDCT_US:230706003", "SNOMEDCT_US:274100004", "UMLS:C0553692", "UMLS:C2937358" ], "is_a": [ "HP:0002170" ], "is_obsolete": "", "replace_id": "" }, "HP:0001343": { "name": [ "kernicterus", "kernicterus" ], "alt_id": [], "def": "Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.", "synonym": [], "xref": [ "MSH:D007647", "SNOMEDCT_US:50143004", "SNOMEDCT_US:74925009", "UMLS:C0022610" ], "is_a": [ "HP:0012443" ], "is_obsolete": "", "replace_id": "" }, "HP:0001344": { "name": [ "absent speech", "absent speech" ], "alt_id": [ "HP:0001617", "HP:0006798" ], "def": "Complete lack of development of speech and language abilities.", "synonym": [ [ "absent speech development", "absent speech development" ], [ "lack of language development", "lack of language development" ], [ "lack of speech", "lack of speech" ], [ "no speech development", "no speech development" ], [ "no speech or language development", "no speech or language development" ], [ "nonverbal", "nonverbal" ] ], "xref": [ "UMLS:C0746940", "UMLS:C1854882" ], "is_a": [ "HP:0000750" ], "is_obsolete": "", "replace_id": "" }, "HP:0001345": { "name": [ "psychotic mentation", "psychotic mentation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025789" ], "is_a": [ "HP:0000709" ], "is_obsolete": "", "replace_id": "" }, "HP:0001347": { "name": [ "hyperreflexia", "hyperreflexia" ], "alt_id": [ "HP:0001282", "HP:0006820", "HP:0007184", "HP:0007318" ], "def": "Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.", "synonym": [ [ "increased deep tendon reflexes", "increase deep tendon reflex" ], [ "increased reflexes", "increase reflex" ] ], "xref": [ "MSH:D012021", "SNOMEDCT_US:86854008", "UMLS:C0151889" ], "is_a": [ "HP:0031826" ], "is_obsolete": "", "replace_id": "" }, "HP:0001348": { "name": [ "brisk reflexes", "brisk reflex" ], "alt_id": [], "def": "Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.", "synonym": [ [ "brisk deep tendon reflexes", "brisk deep tendon reflex" ] ], "xref": [ "UMLS:C2673700" ], "is_a": [ "HP:0001347" ], "is_obsolete": "", "replace_id": "" }, "HP:0001349": { "name": [ "facial diplegia", "facial diplegia" ], "alt_id": [ "HP:0005334", "HP:0007085" ], "def": "Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).", "synonym": [ [ "bilateral facial weakness", "bilateral facial weakness" ], [ "facial paresis , bilateral", "facial paresis , bilateral" ] ], "xref": [ "UMLS:C1836003" ], "is_a": [ "HP:0010628" ], "is_obsolete": "", "replace_id": "" }, "HP:0001350": { "name": [ "slurred speech", "slur speech" ], "alt_id": [], "def": "Abnormal coordination of muscles involved in speech.", "synonym": [ [ "slurred speech", "slur speech" ] ], "xref": [ "SNOMEDCT_US:289195008", "UMLS:C0234518" ], "is_a": [ "HP:0011443" ], "is_obsolete": "", "replace_id": "" }, "HP:0001351": { "name": [ "jerk - locked premyoclonus spikes", "jerk - lock premyoclonus spike" ], "alt_id": [], "def": "Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.", "synonym": [], "xref": [ "UMLS:C3552825" ], "is_a": [ "HP:0030178" ], "is_obsolete": "", "replace_id": "" }, "HP:0001355": { "name": [ "megalencephaly", "megalencephaly" ], "alt_id": [], "def": "Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).", "synonym": [ [ "enlarged brain", "enlarge brain" ], [ "macrencephaly", "macrencephaly" ] ], "xref": [ "MSH:D058627", "SNOMEDCT_US:19410003", "UMLS:C0221355" ], "is_a": [ "HP:0002060" ], "is_obsolete": "", "replace_id": "" }, "HP:0001357": { "name": [ "plagiocephaly", "plagiocephaly" ], "alt_id": [ "HP:0001121" ], "def": "Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.", "synonym": [ [ "asymmetry of the posterior cranium", "asymmetry of the posterior cranium" ], [ "asymmetry of the posterior head", "asymmetry of the posterior head" ], [ "asymmetry of the posterior skull", "asymmetry of the posterior skull" ], [ "deformational plagiocephaly", "deformational plagiocephaly" ], [ "flat head", "flat head" ], [ "flat head syndrome", "flat head syndrome" ], [ "flattening of cranial vault", "flattening of cranial vault" ], [ "flattening of cranium", "flattening of cranium" ], [ "flattening of head", "flattening of head" ], [ "flattening of skull", "flattening of skull" ], [ "positional plagiocephaly", "positional plagiocephaly" ], [ "rhomboid shaped cranium", "rhomboid shape cranium" ], [ "rhomboid shaped head", "rhomboid shape head" ], [ "rhomboid shaped skull", "rhomboid shape skull" ] ], "xref": [ "MSH:D049068", "MSH:D059041", "SNOMEDCT_US:21850008", "SNOMEDCT_US:254024005", "UMLS:C0265529", "UMLS:C1450010", "UMLS:C4072830", "UMLS:C4280597", "UMLS:C4280598", "UMLS:C4280807" ], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0001360": { "name": [ "holoprosencephaly", "holoprosencephaly" ], "alt_id": [ "HP:0009807" ], "def": "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.", "synonym": [ [ "single brain ventricle", "single brain ventricle" ] ], "xref": [ "Fyler:4338", "MSH:D016142", "SNOMEDCT_US:30915001", "UMLS:C0079541" ], "is_a": [ "HP:0012443" ], "is_obsolete": "", "replace_id": "" }, "HP:0001361": { "name": [ "nystagmus - induced head nodding", "nystagmus - induced head nod" ], "alt_id": [], "def": "Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.", "synonym": [], "xref": [ "UMLS:C4025788" ], "is_a": [ "HP:0000639" ], "is_obsolete": "", "replace_id": "" }, "HP:0001362": { "name": [ "calvarial skull defect", "calvarial skull defect" ], "alt_id": [], "def": "A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.", "synonym": [ [ "calvarial defect", "calvarial defect" ], [ "cranial defect", "cranial defect" ], [ "skull defect", "skull defect" ] ], "xref": [ "UMLS:C4025787", "UMLS:C4280595", "UMLS:C4280596" ], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0001363": { "name": [ "craniosynostosis", "craniosynostosis" ], "alt_id": [ "HP:0001365", "HP:0004494", "HP:0005448", "HP:0005457", "HP:0005467", "HP:0008492" ], "def": "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.", "synonym": [ [ "cranial suture synostosis", "cranial suture synostosis" ], [ "craniostenosis", "craniostenosis" ], [ "craniosyostosis", "craniosyostosis" ], [ "deformity of the skull", "deformity of the skull" ], [ "early fusion of cranial sutures", "early fusion of cranial suture" ], [ "premature closure of cranial sutures", "premature closure of cranial suture" ], [ "premature fontanel closure", "premature fontanel closure" ], [ "premature suture closure", "premature suture closure" ] ], "xref": [ "Fyler:4336", "MSH:D003398", "SNOMEDCT_US:57219006", "UMLS:C0010278", "UMLS:C0235942" ], "is_a": [ "HP:0002648", "HP:0011329" ], "is_obsolete": "", "replace_id": "" }, "HP:0001367": { "name": [ "abnormal joint morphology", "abnormal joint morphology" ], "alt_id": [], "def": "An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.", "synonym": [ [ "abnormal shape of joints", "abnormal shape of joint" ], [ "abnormality of the joints", "abnormality of the joint" ], [ "anomaly of the joints", "anomaly of the joint" ], [ "joint disease", "joint disease" ] ], "xref": [ "MSH:D007592", "SNOMEDCT_US:399269003", "UMLS:C0022408", "UMLS:C0240083" ], "is_a": [ "HP:0011842" ], "is_obsolete": "", "replace_id": "" }, "HP:0001369": { "name": [ "arthritis", "arthritis" ], "alt_id": [], "def": "Inflammation of a joint.", "synonym": [ [ "arthritis", "arthritis" ], [ "joint inflammation", "joint inflammation" ] ], "xref": [ "MSH:D001168", "SNOMEDCT_US:3723001", "UMLS:C0003864" ], "is_a": [ "HP:0001367" ], "is_obsolete": "", "replace_id": "" }, "HP:0001370": { "name": [ "rheumatoid arthritis", "rheumatoid arthritis" ], "alt_id": [], "def": "Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.", "synonym": [ [ "rheumatoid arthritis", "rheumatoid arthritis" ] ], "xref": [ "MSH:D001172", "SNOMEDCT_US:69896004", "UMLS:C0003873" ], "is_a": [ "HP:0001369" ], "is_obsolete": "", "replace_id": "" }, "HP:0001371": { "name": [ "flexion contracture", "flexion contracture" ], "alt_id": [ "HP:0001372", "HP:0001381", "HP:0005053", "HP:0005189", "HP:0005660" ], "def": "A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.", "synonym": [ [ "contracture", "contracture" ], [ "contractures", "contracture" ], [ "flexed joint that can not be straightened", "flexed joint that can not be straighten" ], [ "flexion contractures", "flexion contracture" ], [ "flexion contractures of joints", "flexion contracture of joint" ], [ "joint contracture", "joint contracture" ], [ "joint contractures", "joint contracture" ] ], "xref": [ "MSH:D003286", "SNOMEDCT_US:203598005", "SNOMEDCT_US:385522000", "SNOMEDCT_US:55033002", "SNOMEDCT_US:57048009", "SNOMEDCT_US:7890003", "SNOMEDCT_US:88565003", "UMLS:C0009917", "UMLS:C0009918", "UMLS:C0333068", "UMLS:C1850530" ], "is_a": [ "HP:0003549", "HP:0011729", "HP:0011805", "HP:0100261" ], "is_obsolete": "", "replace_id": "" }, "HP:0001373": { "name": [ "joint dislocation", "joint dislocation" ], "alt_id": [ "HP:0002772", "HP:0005837" ], "def": "Displacement or malalignment of joints.", "synonym": [ [ "joint dislocation", "joint dislocation" ], [ "joint dislocations", "joint dislocation" ], [ "recurrent joint dislocations", "recurrent joint dislocation" ] ], "xref": [ "MSH:D004204", "SNOMEDCT_US:108367008", "SNOMEDCT_US:87642003", "UMLS:C0012691" ], "is_a": [ "HP:0001367" ], "is_obsolete": "", "replace_id": "" }, "HP:0001374": { "name": [ "congenital hip dislocation", "congenital hip dislocation" ], "alt_id": [], "def": "", "synonym": [ [ "congenital dislocation of the hip", "congenital dislocation of the hip" ], [ "congenital dislocation of the hips", "congenital dislocation of the hip" ], [ "congenital hip anomaly", "congenital hip anomaly" ], [ "congenital hip dislocations", "congenital hip dislocation" ], [ "dislocated hip since birth", "dislocate hip since birth" ] ], "xref": [ "MSH:D006618", "SNOMEDCT_US:48334007", "SNOMEDCT_US:52781008", "UMLS:C0019555" ], "is_a": [ "HP:0002827" ], "is_obsolete": "", "replace_id": "" }, "HP:0001376": { "name": [ "limitation of joint mobility", "limitation of joint mobility" ], "alt_id": [ "HP:0003101" ], "def": "A reduction in the freedom of movement of one or more joints.", "synonym": [ [ "decreased joint mobility", "decrease joint mobility" ], [ "decreased mobility of joints", "decreased mobility of joint" ], [ "limitation of joint mobility", "limitation of joint mobility" ], [ "limited joint mobility", "limited joint mobility" ], [ "limited joint motion", "limited joint motion" ] ], "xref": [ "UMLS:C1857108" ], "is_a": [ "HP:0011729" ], "is_obsolete": "", "replace_id": "" }, "HP:0001377": { "name": [ "limited elbow extension", "limited elbow extension" ], "alt_id": [ "HP:0005073" ], "def": "Limited ability to straighten the arm at the elbow joint.", "synonym": [ [ "decreased elbow extension", "decrease elbow extension" ], [ "elbow limited extension", "elbow limited extension" ], [ "limitation of elbow extension", "limitation of elbow extension" ], [ "limited elbow extension", "limited elbow extension" ], [ "limited extension at elbows", "limited extension at elbow" ], [ "limited forearm extension", "limited forearm extension" ], [ "restricted elbow extension", "restrict elbow extension" ] ], "xref": [ "UMLS:C1867103" ], "is_a": [ "HP:0002996" ], "is_obsolete": "", "replace_id": "" }, "HP:0001379": { "name": [ "obsolete degenerative joint disease", "obsolete degenerative joint disease" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0002758" }, "HP:0001380": { "name": [ "obsolete ligamentous laxity", "obsolete ligamentous laxity" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001388" }, "HP:0001382": { "name": [ "joint hypermobility", "joint hypermobility" ], "alt_id": [ "HP:0001378", "HP:0005034" ], "def": "The ability of a joint to move beyond its normal range of motion.", "synonym": [ [ "double - jointed", "double - joint" ], [ "extensible joints", "extensible joint" ], [ "flexible joints", "flexible joint" ], [ "hyperextensible joints", "hyperextensible joint" ], [ "increased joint mobility", "increase joint mobility" ], [ "increased mobility of joints", "increase mobility of joint" ], [ "joint hyperextensibility", "joint hyperextensibility" ] ], "xref": [ "SNOMEDCT_US:298181000", "UMLS:C1844820" ], "is_a": [ "HP:0011729" ], "is_obsolete": "", "replace_id": "" }, "HP:0001384": { "name": [ "abnormal hip joint morphology", "abnormal hip joint morphology" ], "alt_id": [], "def": "An abnormality of the hip joint.", "synonym": [ [ "abnormality of the hip joint", "abnormality of the hip joint" ], [ "abnormality of the hip joints", "abnormality of the hip joint" ] ], "xref": [ "UMLS:C4020870" ], "is_a": [ "HP:0003272", "HP:0005262", "HP:0100491" ], "is_obsolete": "", "replace_id": "" }, "HP:0001385": { "name": [ "hip dysplasia", "hip dysplasia" ], "alt_id": [ "HP:0008787" ], "def": "The presence of developmental dysplasia of the hip.", "synonym": [ [ "abnormal formation of the hip", "abnormal formation of the hip" ], [ "congenital hip dysplasia", "congenital hip dysplasia" ] ], "xref": [ "MSH:D006618", "SNOMEDCT_US:48334007", "SNOMEDCT_US:52781008", "UMLS:C0019555" ], "is_a": [ "HP:0003272" ], "is_obsolete": "", "replace_id": "" }, "HP:0001386": { "name": [ "joint swelling", "joint swell" ], "alt_id": [], "def": "", "synonym": [ [ "joint swelling", "joint swell" ] ], "xref": [ "SNOMEDCT_US:271771009", "UMLS:C0152031" ], "is_a": [ "HP:0000969", "HP:0001367" ], "is_obsolete": "", "replace_id": "" }, "HP:0001387": { "name": [ "joint stiffness", "joint stiffness" ], "alt_id": [ "HP:0002775", "HP:0003033" ], "def": "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.", "synonym": [ [ "joint stiffness", "joint stiffness" ], [ "stiff joint", "stiff joint" ], [ "stiff joints", "stiff joint" ] ], "xref": [ "SNOMEDCT_US:84445001", "UMLS:C0162298" ], "is_a": [ "HP:0001376" ], "is_obsolete": "", "replace_id": "" }, "HP:0001388": { "name": [ "joint laxity", "joint laxity" ], "alt_id": [ "HP:0001380", "HP:0001383", "HP:0002771" ], "def": "Lack of stability of a joint.", "synonym": [ [ "hyperlaxity", "hyperlaxity" ], [ "joint instability", "joint instability" ], [ "joint ligamentous laxity", "joint ligamentous laxity" ], [ "lax joints", "lax joint" ], [ "ligamentous laxity", "ligamentous laxity" ], [ "loose - jointedness", "loose - jointedness" ], [ "loosejointedness", "loosejointedness" ] ], "xref": [ "MSH:D007593", "SNOMEDCT_US:27911000", "SNOMEDCT_US:298203008", "UMLS:C0086437", "UMLS:C0158359" ], "is_a": [ "HP:0011729" ], "is_obsolete": "", "replace_id": "" }, "HP:0001392": { "name": [ "abnormality of the liver", "abnormality of the liver" ], "alt_id": [], "def": "An abnormality of the liver.", "synonym": [ [ "abnormal liver", "abnormal liver" ], [ "abnormality of the liver", "abnormality of the liver" ], [ "liver abnormality", "liver abnormality" ], [ "liver disease", "liver disease" ] ], "xref": [ "MSH:D008107", "SNOMEDCT_US:235856003", "UMLS:C0023895", "UMLS:C4021780" ], "is_a": [ "HP:0002012" ], "is_obsolete": "", "replace_id": "" }, "HP:0001394": { "name": [ "cirrhosis", "cirrhosis" ], "alt_id": [], "def": "A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.", "synonym": [ [ "hepatic cirrhosis", "hepatic cirrhosis" ], [ "liver cirrhosis", "liver cirrhosis" ], [ "scar tissue replaces healthy tissue in the liver", "scar tissue replace healthy tissue in the liver" ] ], "xref": [ "MSH:D008103", "SNOMEDCT_US:19943007", "UMLS:C0023890" ], "is_a": [ "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0001395": { "name": [ "hepatic fibrosis", "hepatic fibrosis" ], "alt_id": [], "def": "The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.", "synonym": [ [ "liver fibrosis", "liver fibrosis" ] ], "xref": [ "MSH:D008103", "SNOMEDCT_US:62484002", "UMLS:C0239946" ], "is_a": [ "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0001396": { "name": [ "cholestasis", "cholestasis" ], "alt_id": [], "def": "Impairment of bile flow due to obstruction in bile ducts.", "synonym": [ [ "slowed or blocked flow of bile from liver", "slow or block flow of bile from liver" ] ], "xref": [ "MSH:D002779", "SNOMEDCT_US:197446008", "SNOMEDCT_US:30144000", "SNOMEDCT_US:33688009", "UMLS:C0008370" ], "is_a": [ "HP:0004297" ], "is_obsolete": "", "replace_id": "" }, "HP:0001397": { "name": [ "hepatic steatosis", "hepatic steatosis" ], "alt_id": [ "HP:0002252", "HP:0200121" ], "def": "Steatosis is a term used to denote lipid accumulation within hepatocytes.", "synonym": [ [ "fatty infiltration of liver", "fatty infiltration of liver" ], [ "fatty liver", "fatty liver" ], [ "liver steatosis", "liver steatosis" ], [ "steatosis", "steatosis" ] ], "xref": [ "MSH:D005234", "SNOMEDCT_US:197321007", "SNOMEDCT_US:442191002", "UMLS:C2711227" ], "is_a": [ "HP:0006561" ], "is_obsolete": "", "replace_id": "" }, "HP:0001399": { "name": [ "hepatic failure", "hepatic failure" ], "alt_id": [], "def": "", "synonym": [ [ "liver failure", "liver failure" ] ], "xref": [ "MSH:D017093", "SNOMEDCT_US:59927004", "UMLS:C0085605" ], "is_a": [ "HP:0001410" ], "is_obsolete": "", "replace_id": "" }, "HP:0001400": { "name": [ "obsolete hepatic abscesses due to immunodeficiency", "obsolete hepatic abscess due to immunodeficiency" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0100523" }, "HP:0001401": { "name": [ "intrahepatic biliary dysgenesis", "intrahepatic biliary dysgenesis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1859235" ], "is_a": [ "HP:0011040" ], "is_obsolete": "", "replace_id": "" }, "HP:0001402": { "name": [ "hepatocellular carcinoma", "hepatocellular carcinoma" ], "alt_id": [ "HP:0002899", "HP:0003007", "HP:0006750" ], "def": "A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.", "synonym": [ [ "increased hepatocellular carcinoma risk", "increase hepatocellular carcinoma risk" ], [ "increased incidence of hepatocellular carcinoma", "increase incidence of hepatocellular carcinoma" ] ], "xref": [ "MSH:D006528", "NCIT:C3099", "SNOMEDCT_US:109841003", "SNOMEDCT_US:187769009", "SNOMEDCT_US:25370001", "UMLS:C1862761", "UMLS:C1867955", "UMLS:C2239176" ], "is_a": [ "HP:0002896" ], "is_obsolete": "", "replace_id": "" }, "HP:0001403": { "name": [ "macrovesicular hepatic steatosis", "macrovesicular hepatic steatosis" ], "alt_id": [], "def": "A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.", "synonym": [ [ "macrovesicular steatosis", "macrovesicular steatosis" ] ], "xref": [ "UMLS:C1837256" ], "is_a": [ "HP:0001397" ], "is_obsolete": "", "replace_id": "" }, "HP:0001404": { "name": [ "hepatocellular necrosis", "hepatocellular necrosis" ], "alt_id": [], "def": "", "synonym": [ [ "death of liver cells", "death of liver cell" ], [ "hepatocellular loss", "hepatocellular loss" ] ], "xref": [ "UMLS:C1855038" ], "is_a": [ "HP:0002605" ], "is_obsolete": "", "replace_id": "" }, "HP:0001405": { "name": [ "periportal fibrosis", "periportal fibrosis" ], "alt_id": [], "def": "The presence of fibrosis affecting the interlobular stroma of liver.", "synonym": [], "xref": [ "UMLS:C1849766" ], "is_a": [ "HP:0001395" ], "is_obsolete": "", "replace_id": "" }, "HP:0001406": { "name": [ "intrahepatic cholestasis", "intrahepatic cholestasis" ], "alt_id": [], "def": "Impairment of bile flow due to obstruction in the small bile ducts within the liver.", "synonym": [ [ "impaired release of bile from liver", "impaired release of bile from liver" ] ], "xref": [ "MSH:D002780", "SNOMEDCT_US:4637005", "UMLS:C0008372" ], "is_a": [ "HP:0001396", "HP:0031865" ], "is_obsolete": "", "replace_id": "" }, "HP:0001407": { "name": [ "hepatic cysts", "hepatic cyst" ], "alt_id": [], "def": "", "synonym": [ [ "liver cysts", "liver cyst" ] ], "xref": [ "SNOMEDCT_US:85057007", "UMLS:C0267834" ], "is_a": [ "HP:0006706" ], "is_obsolete": "", "replace_id": "" }, "HP:0001408": { "name": [ "bile duct proliferation", "bile duct proliferation" ], "alt_id": [], "def": "Proliferative changes of the bile ducts.", "synonym": [ [ "proliferation of bile canaliculi", "proliferation of bile canaliculus" ] ], "xref": [ "SNOMEDCT_US:20239009", "UMLS:C0267818" ], "is_a": [ "HP:0012440" ], "is_obsolete": "", "replace_id": "" }, "HP:0001409": { "name": [ "portal hypertension", "portal hypertension" ], "alt_id": [], "def": "Increased pressure in the portal vein.", "synonym": [], "xref": [ "MSH:D006975", "SNOMEDCT_US:34742003", "UMLS:C0020541" ], "is_a": [ "HP:0006707", "HP:0032263" ], "is_obsolete": "", "replace_id": "" }, "HP:0001410": { "name": [ "decreased liver function", "decrease liver function" ], "alt_id": [ "HP:0004393", "HP:0005228", "HP:0006570" ], "def": "Reduced ability of the liver to perform its functions.", "synonym": [ [ "decreased liver function", "decrease liver function" ], [ "hepatopathy", "hepatopathy" ], [ "liver dysfunction", "liver dysfunction" ], [ "liver dysfunction , mild", "liver dysfunction , mild" ] ], "xref": [ "MSH:D008107", "SNOMEDCT_US:75183008", "SNOMEDCT_US:77981007", "UMLS:C0086565", "UMLS:C0232744", "UMLS:C3279149" ], "is_a": [ "HP:0025155" ], "is_obsolete": "", "replace_id": "" }, "HP:0001412": { "name": [ "enteroviral hepatitis", "enteroviral hepatitis" ], "alt_id": [], "def": "Inflammation of the liver due to infection with enterovirus.", "synonym": [], "xref": [ "UMLS:C1843995" ], "is_a": [ "HP:0006562" ], "is_obsolete": "", "replace_id": "" }, "HP:0001413": { "name": [ "micronodular cirrhosis", "micronodular cirrhosis" ], "alt_id": [], "def": "A type of cirrhosis characterized by the presence of small regenerative nodules.", "synonym": [], "xref": [ "SNOMEDCT_US:21861000", "UMLS:C0267812" ], "is_a": [ "HP:0001394" ], "is_obsolete": "", "replace_id": "" }, "HP:0001414": { "name": [ "microvesicular hepatic steatosis", "microvesicular hepatic steatosis" ], "alt_id": [], "def": "A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.", "synonym": [ [ "microvesicular steatosis", "microvesicular steatosis" ] ], "xref": [ "UMLS:C1850415" ], "is_a": [ "HP:0001397" ], "is_obsolete": "", "replace_id": "" }, "HP:0001417": { "name": [ "x - linked inheritance", "x - link inheritance" ], "alt_id": [ "HP:0001418" ], "def": "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.", "synonym": [ [ "x - linked", "x - link" ], [ "x - linked form", "x - link form" ] ], "xref": [ "MSH:D050172", "SNOMEDCT_US:263934009", "UMLS:C0241764" ], "is_a": [ "HP:0010985" ], "is_obsolete": "", "replace_id": "" }, "HP:0001419": { "name": [ "x - linked recessive inheritance", "x - link recessive inheritance" ], "alt_id": [], "def": "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.", "synonym": [ [ "x - linked recessive", "x - link recessive" ] ], "xref": [ "UMLS:C1845977" ], "is_a": [ "HP:0001417" ], "is_obsolete": "", "replace_id": "" }, "HP:0001421": { "name": [ "abnormality of the musculature of the hand", "abnormality of the musculature of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal hand muscles", "abnormal hand muscle" ] ], "xref": [ "UMLS:C4025786" ], "is_a": [ "HP:0001155", "HP:0001446" ], "is_obsolete": "", "replace_id": "" }, "HP:0001423": { "name": [ "x - linked dominant inheritance", "x - link dominant inheritance" ], "alt_id": [], "def": "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.", "synonym": [ [ "x - linked dominant", "x - link dominant" ] ], "xref": [ "UMLS:C1847879" ], "is_a": [ "HP:0001417" ], "is_obsolete": "", "replace_id": "" }, "HP:0001425": { "name": [ "heterogeneous", "heterogeneous" ], "alt_id": [], "def": "", "synonym": [ [ "genetic heterogeneity", "genetic heterogeneity" ], [ "heterogeneity", "heterogeneity" ] ], "xref": [ "MSH:D018740", "UMLS:C0242960" ], "is_a": [ "HP:0000005" ], "is_obsolete": "", "replace_id": "" }, "HP:0001426": { "name": [ "multifactorial inheritance", "multifactorial inheritance" ], "alt_id": [ "HP:0001429", "HP:0001472" ], "def": "A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.", "synonym": [ [ "familial predisposition", "familial predisposition" ] ], "xref": [ "MSH:D020412", "UMLS:C0600599" ], "is_a": [ "HP:0000005" ], "is_obsolete": "", "replace_id": "" }, "HP:0001427": { "name": [ "mitochondrial inheritance", "mitochondrial inheritance" ], "alt_id": [ "HP:0001431", "HP:0001458", "HP:0001506" ], "def": "A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).", "synonym": [ [ "mitochondrial", "mitochondrial" ] ], "xref": [ "MSH:D050259", "UMLS:C0887941" ], "is_a": [ "HP:0000005" ], "is_obsolete": "", "replace_id": "" }, "HP:0001428": { "name": [ "somatic mutation", "somatic mutation" ], "alt_id": [], "def": "A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.", "synonym": [], "xref": [ "SNOMEDCT_US:124975008", "UMLS:C0544886" ], "is_a": [ "HP:0000005" ], "is_obsolete": "", "replace_id": "" }, "HP:0001430": { "name": [ "abnormality of the calf musculature", "abnormality of the calf musculature" ], "alt_id": [ "HP:0004300" ], "def": "", "synonym": [ [ "abnormal calf muscles", "abnormal calf muscle" ], [ "abnormality of calf musculature", "abnormality of calf musculature" ] ], "xref": [ "UMLS:C4021779" ], "is_a": [ "HP:0001437" ], "is_obsolete": "", "replace_id": "" }, "HP:0001433": { "name": [ "hepatosplenomegaly", "hepatosplenomegaly" ], "alt_id": [], "def": "Simultaneous enlargement of the liver and spleen.", "synonym": [ [ "enlarged liver and spleen", "enlarge liver and spleen" ] ], "xref": [ "SNOMEDCT_US:36760000", "UMLS:C0019214" ], "is_a": [ "HP:0003271", "HP:0025408", "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0001435": { "name": [ "abnormality of the shoulder girdle musculature", "abnormality of the shoulder girdle musculature" ], "alt_id": [ "HP:0004301" ], "def": "", "synonym": [ [ "abnormality of shoulder musculature", "abnormality of shoulder musculature" ] ], "xref": [ "UMLS:C4021778" ], "is_a": [ "HP:0001446" ], "is_obsolete": "", "replace_id": "" }, "HP:0001436": { "name": [ "abnormality of the foot musculature", "abnormality of the foot musculature" ], "alt_id": [], "def": "An anomaly of the musculature of foot.", "synonym": [ [ "abnormal foot muscles", "abnormal foot muscle" ] ], "xref": [ "UMLS:C4025785" ], "is_a": [ "HP:0001437" ], "is_obsolete": "", "replace_id": "" }, "HP:0001437": { "name": [ "abnormality of the musculature of the lower limbs", "abnormality of the musculature of the low limb" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025784" ], "is_a": [ "HP:0002814", "HP:0009127" ], "is_obsolete": "", "replace_id": "" }, "HP:0001438": { "name": [ "abnormal abdomen morphology", "abnormal abdomen morphology" ], "alt_id": [], "def": "A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.", "synonym": [ [ "abdomen abnormality", "abdomen abnormality" ], [ "abnormality of abdomen morphology", "abnormality of abdomen morphology" ], [ "abnormality of abdomen structure", "abnormality of abdomen structure" ], [ "abnormality of the abdomen", "abnormality of the abdomen" ] ], "xref": [ "UMLS:C4020869" ], "is_a": [ "HP:0025031" ], "is_obsolete": "", "replace_id": "" }, "HP:0001440": { "name": [ "metatarsal synostosis", "metatarsal synostosis" ], "alt_id": [ "HP:0004705", "HP:0008098" ], "def": "", "synonym": [ [ "fusion of metatarsals", "fusion of metatarsal" ], [ "fusion of the long bones of the feet", "fusion of the long bone of the foot" ], [ "synostosis involving metatarsal bones", "synostosis involve metatarsal bone" ] ], "xref": [ "UMLS:C1862697" ], "is_a": [ "HP:0001832", "HP:0009140", "HP:0100265" ], "is_obsolete": "", "replace_id": "" }, "HP:0001441": { "name": [ "abnormality of the musculature of the thigh", "abnormality of the musculature of the thigh" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal thigh muscles", "abnormal thigh muscle" ] ], "xref": [ "UMLS:C4025783" ], "is_a": [ "HP:0001437" ], "is_obsolete": "", "replace_id": "" }, "HP:0001442": { "name": [ "somatic mosaicism", "somatic mosaicism" ], "alt_id": [], "def": "The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations.", "synonym": [], "xref": [ "UMLS:C1866227" ], "is_a": [ "HP:0001428" ], "is_obsolete": "", "replace_id": "" }, "HP:0001443": { "name": [ "abnormality of the gluteal musculature", "abnormality of the gluteal musculature" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of glutes", "abnormality of glute" ] ], "xref": [ "UMLS:C4025782" ], "is_a": [ "HP:0001469" ], "is_obsolete": "", "replace_id": "" }, "HP:0001444": { "name": [ "autosomal dominant somatic cell mutation", "autosomal dominant somatic cell mutation" ], "alt_id": [], "def": "Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body.", "synonym": [], "xref": [ "UMLS:C4025781" ], "is_a": [ "HP:0000006" ], "is_obsolete": "", "replace_id": "" }, "HP:0001445": { "name": [ "abnormality of the hip - girdle musculature", "abnormality of the hip - girdle musculature" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025780" ], "is_a": [ "HP:0001469" ], "is_obsolete": "", "replace_id": "" }, "HP:0001446": { "name": [ "abnormality of the musculature of the upper limbs", "abnormality of the musculature of the upper limb" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal upper limb muscles", "abnormal upper limb muscle" ] ], "xref": [ "UMLS:C4025779" ], "is_a": [ "HP:0002817", "HP:0009127" ], "is_obsolete": "", "replace_id": "" }, "HP:0001449": { "name": [ "duplication of metatarsal bones", "duplication of metatarsal bone" ], "alt_id": [], "def": "", "synonym": [ [ "duplication of long bones of foot", "duplication of long bone of foot" ] ], "xref": [ "UMLS:C4025778" ], "is_a": [ "HP:0001832", "HP:0009136" ], "is_obsolete": "", "replace_id": "" }, "HP:0001450": { "name": [ "y - linked inheritance", "y - link inheritance" ], "alt_id": [], "def": "A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.", "synonym": [ [ "y - linked", "y - link" ] ], "xref": [ "MSH:D050173", "UMLS:C0814045" ], "is_a": [ "HP:0010985" ], "is_obsolete": "", "replace_id": "" }, "HP:0001452": { "name": [ "autosomal dominant contiguous gene syndrome", "autosomal dominant contiguous gene syndrome" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025777" ], "is_a": [ "HP:0000006", "HP:0001466" ], "is_obsolete": "", "replace_id": "" }, "HP:0001454": { "name": [ "abnormality of the upper arm", "abnormality of the upper arm" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025776" ], "is_a": [ "HP:0002817" ], "is_obsolete": "", "replace_id": "" }, "HP:0001457": { "name": [ "abnormality of the musculature of the upper arm", "abnormality of the musculature of the upper arm" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025775" ], "is_a": [ "HP:0001446", "HP:0001454" ], "is_obsolete": "", "replace_id": "" }, "HP:0001459": { "name": [ "1 - 3 toe syndactyly", "1 - 3 toe syndactyly" ], "alt_id": [], "def": "Syndactyly with fusion of toes one to three.", "synonym": [ [ "webbed 1st - 3rd toes", "web 1st - 3rd toe" ] ], "xref": [ "UMLS:C4025774" ], "is_a": [ "HP:0001770" ], "is_obsolete": "", "replace_id": "" }, "HP:0001460": { "name": [ "aplasia / hypoplasia involving the skeletal musculature", "aplasia / hypoplasia involve the skeletal musculature" ], "alt_id": [], "def": "Absence or underdevelopment of the musculature.", "synonym": [ [ "absent / small skeletal muscles", "absent / small skeletal muscle" ], [ "absent / underdeveloped skeletal muscles", "absent / underdevelop skeletal muscle" ] ], "xref": [ "UMLS:C4025773" ], "is_a": [ "HP:0030236" ], "is_obsolete": "", "replace_id": "" }, "HP:0001464": { "name": [ "aplasia / hypoplasia involving the shoulder musculature", "aplasia / hypoplasia involve the shoulder musculature" ], "alt_id": [], "def": "Absence or underdevelopment of the muscles of the shoulder.", "synonym": [ [ "absent / small shoulder muscles", "absent / small shoulder muscle" ], [ "absent / underdeveloped shoulder muscles", "absent / underdevelop shoulder muscle" ] ], "xref": [ "UMLS:C4025772" ], "is_a": [ "HP:0001435", "HP:0001467" ], "is_obsolete": "", "replace_id": "" }, "HP:0001465": { "name": [ "amyotrophy involving the shoulder musculature", "amyotrophy involve the shoulder musculature" ], "alt_id": [], "def": "", "synonym": [ [ "shoulder muscle degeneration", "shoulder muscle degeneration" ], [ "wasting of shoulder muscles", "wasting of shoulder muscle" ] ], "xref": [ "UMLS:C4025771" ], "is_a": [ "HP:0001435" ], "is_obsolete": "", "replace_id": "" }, "HP:0001466": { "name": [ "contiguous gene syndrome", "contiguous gene syndrome" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1855496" ], "is_a": [ "HP:0000005" ], "is_obsolete": "", "replace_id": "" }, "HP:0001467": { "name": [ "aplasia / hypoplasia involving the musculature of the upper limbs", "aplasia / hypoplasia involve the musculature of the upper limb" ], "alt_id": [], "def": "Absence or underdevelopment of the musculature of the upper limbs.", "synonym": [ [ "absent / small upper limb muscles", "absent / small upper limb muscle" ], [ "absent / underdeveloped upper limb muscles", "absent / underdevelop upper limb muscle" ] ], "xref": [ "UMLS:C4025770" ], "is_a": [ "HP:0001446", "HP:0009128" ], "is_obsolete": "", "replace_id": "" }, "HP:0001468": { "name": [ "aplasia / hypoplasia involving the musculature of the upper arm", "aplasia / hypoplasia involve the musculature of the upper arm" ], "alt_id": [], "def": "Absence or underdevelopment of the muscles of the upper arm.", "synonym": [ [ "absent / small upper arm muscles", "absent / small upper arm muscle" ], [ "absent / underdeveloped upper arm muscles", "absent / underdevelop upper arm muscle" ] ], "xref": [ "UMLS:C4025769" ], "is_a": [ "HP:0001457", "HP:0001467" ], "is_obsolete": "", "replace_id": "" }, "HP:0001469": { "name": [ "abnormal morphology of the pelvis musculature", "abnormal morphology of the pelvis musculature" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the musculature of the pelvis", "abnormality of the musculature of the pelvis" ] ], "xref": [ "UMLS:C4025768" ], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0001470": { "name": [ "sex - limited autosomal dominant", "sex - limited autosomal dominant" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025767" ], "is_a": [ "HP:0000006" ], "is_obsolete": "", "replace_id": "" }, "HP:0001471": { "name": [ "aplasia / hypoplasia of the musculature of the pelvis", "aplasia / hypoplasia of the musculature of the pelvis" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small pelvis muscles", "absent / small pelvis muscle" ], [ "absent / underdeveloped pelvis muscles", "absent / underdevelop pelvis muscle" ] ], "xref": [ "UMLS:C4025766" ], "is_a": [ "HP:0001469" ], "is_obsolete": "", "replace_id": "" }, "HP:0001472": { "name": [ "obsolete familial predisposition", "obsolete familial predisposition" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001426" }, "HP:0001473": { "name": [ "metatarsal osteolysis", "metatarsal osteolysis" ], "alt_id": [ "HP:0001866" ], "def": "Osteolysis involving metatarsal bones.", "synonym": [ [ "osteolysis involving metatarsal bones", "osteolysis involve metatarsal bone" ] ], "xref": [ "UMLS:C1854614" ], "is_a": [ "HP:0001832", "HP:0009134" ], "is_obsolete": "", "replace_id": "" }, "HP:0001474": { "name": [ "sclerotic scapulae", "sclerotic scapula" ], "alt_id": [], "def": "Increased density of the bony tissue of the scapula.", "synonym": [], "xref": [ "UMLS:C1849263" ], "is_a": [ "HP:0000782", "HP:0011001" ], "is_obsolete": "", "replace_id": "" }, "HP:0001475": { "name": [ "male - limited autosomal dominant", "male - limited autosomal dominant" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025764" ], "is_a": [ "HP:0001470" ], "is_obsolete": "", "replace_id": "" }, "HP:0001476": { "name": [ "delayed closure of the anterior fontanelle", "delayed closure of the anterior fontanelle" ], "alt_id": [], "def": "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.", "synonym": [ [ "delayed closure anterior fontanel", "delay closure anterior fontanel" ], [ "delayed closure of anterior fontanelle", "delayed closure of anterior fontanelle" ], [ "delayed closure of the bregma sutures", "delayed closure of the bregma suture" ], [ "delayed closure of the soft spot on the skull", "delayed closure of the soft spot on the skull" ], [ "late closure of anterior fontanelle", "late closure of anterior fontanelle" ], [ "late closure of large anterior fontanel", "late closure of large anterior fontanel" ], [ "late closure of soft spot on the skull", "late closure of soft spot on the skull" ], [ "late closure of the bregma sutures", "late closure of the bregma suture" ], [ "later than typical closing of soft spot of skull", "later than typical closing of soft spot of skull" ], [ "persistent anterior fontanelle", "persistent anterior fontanelle" ] ], "xref": [ "SNOMEDCT_US:295091000119100", "UMLS:C3840083", "UMLS:C4072831" ], "is_a": [ "HP:0000236", "HP:0000270" ], "is_obsolete": "", "replace_id": "" }, "HP:0001477": { "name": [ "compensatory chin elevation", "compensatory chin elevation" ], "alt_id": [], "def": "A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.", "synonym": [ [ "compensatory head tilt / chin elevation", "compensatory head tilt / chin elevation" ] ], "xref": [ "UMLS:C1846911" ], "is_a": [ "HP:0031705" ], "is_obsolete": "", "replace_id": "" }, "HP:0001480": { "name": [ "freckling", "freckle" ], "alt_id": [], "def": "The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.", "synonym": [ [ "freckling", "freckle" ] ], "xref": [ "MSH:D008548", "SNOMEDCT_US:403536009", "SNOMEDCT_US:699225003", "UMLS:C0016689" ], "is_a": [ "HP:0001000" ], "is_obsolete": "", "replace_id": "" }, "HP:0001482": { "name": [ "subcutaneous nodule", "subcutaneous nodule" ], "alt_id": [ "HP:0005903" ], "def": "Slightly elevated lesions on or in the skin with a diameter of over 5 mm.", "synonym": [ [ "firm lump under the skin", "firm lump under the skin" ], [ "growth of abnormal tissue under the skin", "growth of abnormal tissue under the skin" ], [ "multiple , subcutaneous nodules", "multiple , subcutaneous nodule" ], [ "nodule below the skin", "nodule below the skin" ], [ "subcutaneous nodules", "subcutaneous nodule" ] ], "xref": [ "SNOMEDCT_US:95325000", "UMLS:C0151811", "UMLS:C0746926" ], "is_a": [ "HP:0200036" ], "is_obsolete": "", "replace_id": "" }, "HP:0001483": { "name": [ "eye poking", "eye poking" ], "alt_id": [], "def": "Repetitive pressing, poking, and/or rubbing in the eyes.", "synonym": [], "xref": [ "SNOMEDCT_US:78894008", "UMLS:C0233593" ], "is_a": [ "HP:0000733" ], "is_obsolete": "", "replace_id": "" }, "HP:0001487": { "name": [ "obsolete hypopigmented fundi", "obsolete hypopigmented fundus" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0007894" }, "HP:0001488": { "name": [ "bilateral ptosis", "bilateral ptosis" ], "alt_id": [], "def": "", "synonym": [ [ "drooping of both upper eyelids", "drooping of both upper eyelid" ] ], "xref": [ "UMLS:C1865916" ], "is_a": [ "HP:0000508" ], "is_obsolete": "", "replace_id": "" }, "HP:0001489": { "name": [ "posterior vitreous detachment", "posterior vitreous detachment" ], "alt_id": [], "def": "Separation of the vitreous humor from the retina.", "synonym": [ [ "vitreous detachment", "vitreous detachment" ] ], "xref": [ "MSH:D020255", "SNOMEDCT_US:247081001", "UMLS:C0423361" ], "is_a": [ "HP:0004327" ], "is_obsolete": "", "replace_id": "" }, "HP:0001491": { "name": [ "congenital fibrosis of extraocular muscles", "congenital fibrosis of extraocular muscle" ], "alt_id": [], "def": "Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.", "synonym": [ [ "congenital fibrosis of the extraocular muscles", "congenital fibrosis of the extraocular muscle" ], [ "congenital ophthalmoplegia", "congenital ophthalmoplegia" ] ], "xref": [ "MSH:C580012", "SNOMEDCT_US:400946004", "UMLS:C1302995" ], "is_a": [ "HP:0008049" ], "is_obsolete": "", "replace_id": "" }, "HP:0001492": { "name": [ "axenfeld anomaly", "axenfeld anomaly" ], "alt_id": [], "def": "Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.", "synonym": [], "xref": [ "MSH:C535679", "SNOMEDCT_US:204152008", "UMLS:C0266548" ], "is_a": [ "HP:0007700" ], "is_obsolete": "", "replace_id": "" }, "HP:0001493": { "name": [ "falciform retinal fold", "falciform retinal fold" ], "alt_id": [ "HP:0008013" ], "def": "An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.", "synonym": [ [ "congenital retinal fold", "congenital retinal fold" ] ], "xref": [ "SNOMEDCT_US:204181009", "UMLS:C0344550" ], "is_a": [ "HP:0008052" ], "is_obsolete": "", "replace_id": "" }, "HP:0001495": { "name": [ "carpal osteolysis", "carpal osteolysis" ], "alt_id": [], "def": "Osteolysis affecting carpal bones.", "synonym": [ [ "carpal bone osteolysis", "carpal bone osteolysis" ] ], "xref": [ "UMLS:C1833734" ], "is_a": [ "HP:0001191", "HP:0045039" ], "is_obsolete": "", "replace_id": "" }, "HP:0001498": { "name": [ "carpal bone hypoplasia", "carpal bone hypoplasia" ], "alt_id": [ "HP:0001209", "HP:0006029", "HP:0006072", "HP:0006117", "HP:0006130", "HP:0006227" ], "def": "Underdevelopment of one or more carpal bones.", "synonym": [ [ "hypoplasia of carpal bones", "hypoplasia of carpal bone" ], [ "hypoplastic carpal bones", "hypoplastic carpal bone" ], [ "small carpal bones", "small carpal bone" ], [ "small carpals", "small carpal" ], [ "small wrist bones", "small wrist bone" ] ], "xref": [ "UMLS:C1863749", "UMLS:C4280594" ], "is_a": [ "HP:0006502" ], "is_obsolete": "", "replace_id": "" }, "HP:0001500": { "name": [ "broad finger", "broad finger" ], "alt_id": [ "HP:0001497" ], "def": "Increased width of a non-thumb digit of the hand.", "synonym": [ [ "broad finger", "broad finger" ], [ "broad fingers", "broad finger" ], [ "wide fingers", "wide finger" ] ], "xref": [ "UMLS:C1844906" ], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0001501": { "name": [ "6 metacarpals", "6 metacarpal" ], "alt_id": [], "def": "", "synonym": [ [ "6 long bones of hand", "6 long bone of hand" ] ], "xref": [ "UMLS:C1861360" ], "is_a": [ "HP:0005917" ], "is_obsolete": "", "replace_id": "" }, "HP:0001504": { "name": [ "metacarpal osteolysis", "metacarpal osteolysis" ], "alt_id": [], "def": "", "synonym": [ [ "metacarpals osteolysis", "metacarpal osteolysis" ] ], "xref": [ "UMLS:C1854610" ], "is_a": [ "HP:0001163", "HP:0045039" ], "is_obsolete": "", "replace_id": "" }, "HP:0001507": { "name": [ "growth abnormality", "growth abnormality" ], "alt_id": [ "HP:0008904" ], "def": "", "synonym": [ [ "abnormal growth", "abnormal growth" ], [ "growth abnormality", "growth abnormality" ], [ "growth issue", "growth issue" ] ], "xref": [ "UMLS:C0262361" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0001508": { "name": [ "failure to thrive", "failure to thrive" ], "alt_id": [ "HP:0001535", "HP:0008853", "HP:0008878", "HP:0008916" ], "def": "Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.", "synonym": [ [ "faltering weight", "falter weight" ], [ "poor weight gain", "poor weight gain" ], [ "postnatal failure to thrive", "postnatal failure to thrive" ], [ "undergrowth", "undergrowth" ], [ "weight faltering", "weight falter" ] ], "xref": [ "SNOMEDCT_US:36440009", "SNOMEDCT_US:432788009", "UMLS:C0231246", "UMLS:C2315100" ], "is_a": [ "HP:0004325" ], "is_obsolete": "", "replace_id": "" }, "HP:0001510": { "name": [ "growth delay", "growth delay" ], "alt_id": [ "HP:0001434", "HP:0001512", "HP:0001514", "HP:0001517", "HP:0001532", "HP:0008847", "HP:0008870", "HP:0008886", "HP:0008893", "HP:0008926" ], "def": "A deficiency or slowing down of growth pre- and postnatally.", "synonym": [ [ "delayed growth", "delay growth" ], [ "growth deficiency", "growth deficiency" ], [ "growth delay", "growth delay" ], [ "growth failure", "growth failure" ], [ "growth retardation", "growth retardation" ], [ "poor growth", "poor growth" ], [ "retarded growth", "retarded growth" ], [ "very poor growth", "very poor growth" ] ], "xref": [ "SNOMEDCT_US:276617005", "SNOMEDCT_US:444896005", "SNOMEDCT_US:59576002", "UMLS:C0151686", "UMLS:C0456070", "UMLS:C0878787", "UMLS:C1837385", "UMLS:C3552463" ], "is_a": [ "HP:0001507" ], "is_obsolete": "", "replace_id": "" }, "HP:0001511": { "name": [ "intrauterine growth retardation", "intrauterine growth retardation" ], "alt_id": [ "HP:0001515", "HP:0008862", "HP:0008892", "HP:0008931" ], "def": "An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.", "synonym": [ [ "in utero growth retardation", "in utero growth retardation" ], [ "intrauterine growth failure", "intrauterine growth failure" ], [ "intrauterine growth restriction", "intrauterine growth restriction" ], [ "intrauterine growth retardation , iugr", "intrauterine growth retardation , iugr" ], [ "intrauterine retardation", "intrauterine retardation" ], [ "prenatal growth deficiency", "prenatal growth deficiency" ], [ "prenatal growth failure", "prenatal growth failure" ], [ "prenatal growth retardation", "prenatal growth retardation" ], [ "prenatal onset growth retardation", "prenatal onset growth retardation" ], [ "prenatal - onset growth retardation", "prenatal - onset growth retardation" ], [ "small for gestational age infant", "small for gestational age infant" ] ], "xref": [ "MSH:D005317", "MSH:D007236", "SNOMEDCT_US:199612005", "SNOMEDCT_US:22033007", "UMLS:C0015934", "UMLS:C0021296", "UMLS:C1386048" ], "is_a": [ "HP:0001510" ], "is_obsolete": "", "replace_id": "" }, "HP:0001513": { "name": [ "obesity", "obesity" ], "alt_id": [], "def": "Accumulation of substantial excess body fat.", "synonym": [ [ "having too much body fat", "have too much body fat" ], [ "obesity", "obesity" ] ], "xref": [ "MSH:D009765", "SNOMEDCT_US:414915002", "SNOMEDCT_US:414916001", "UMLS:C0028754" ], "is_a": [ "HP:0004324" ], "is_obsolete": "", "replace_id": "" }, "HP:0001518": { "name": [ "small for gestational age", "small for gestational age" ], "alt_id": [ "HP:0001422", "HP:0008849", "HP:0008919", "HP:0008927" ], "def": "Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.", "synonym": [ [ "birth weight less than 10th percentile", "birth weight less than 10th percentile" ], [ "low birth weight", "low birth weight" ], [ "small for gestational age", "small for gestational age" ] ], "xref": [ "MSH:D007230", "SNOMEDCT_US:267258002", "SNOMEDCT_US:276610007", "UMLS:C0024032", "UMLS:C0235991" ], "is_a": [ "HP:0004325" ], "is_obsolete": "", "replace_id": "" }, "HP:0001519": { "name": [ "disproportionate tall stature", "disproportionate tall stature" ], "alt_id": [ "HP:0003511", "HP:0008864" ], "def": "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.", "synonym": [ [ "dolichostenomelia", "dolichostenomelia" ], [ "marfanoid body habitus", "marfanoid body habitus" ], [ "marfanoid habitus", "marfanoid habitus" ], [ "reduced upper - lower segment ratio", "reduce upper - low segment ratio" ] ], "xref": [ "MSH:D054119", "SNOMEDCT_US:62250003", "UMLS:C0003706", "UMLS:C1836996" ], "is_a": [ "HP:0000098" ], "is_obsolete": "", "replace_id": "" }, "HP:0001520": { "name": [ "large for gestational age", "large for gestational age" ], "alt_id": [ "HP:0001825" ], "def": "The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.", "synonym": [ [ "birth weight > 90th percentile", "birth weight > 90th percentile" ], [ "birthweight > 90th percentile", "birthweight > 90th percentile" ], [ "fetal macrosomia", "fetal macrosomia" ], [ "foetal macrosomia", "foetal macrosomia" ], [ "macrosomia", "macrosomia" ], [ "macrosomia , neonatal", "macrosomia , neonatal" ] ], "xref": [ "UMLS:C1848395" ], "is_a": [ "HP:0004324" ], "is_obsolete": "", "replace_id": "" }, "HP:0001522": { "name": [ "death in infancy", "death in infancy" ], "alt_id": [ "HP:0003816", "HP:0003817", "HP:0003818", "HP:0003823", "HP:0003827" ], "def": "Death within the first 24 months of life.", "synonym": [ [ "death in early childhood", "death in early childhood" ], [ "death in infancy", "death in infancy" ], [ "infantile death", "infantile death" ], [ "lethal in infancy", "lethal in infancy" ] ], "xref": [ "UMLS:C1844947", "UMLS:C1858430" ], "is_a": [ "HP:0011420" ], "is_obsolete": "", "replace_id": "" }, "HP:0001525": { "name": [ "severe failure to thrive", "severe failure to thrive" ], "alt_id": [ "HP:0008876" ], "def": "", "synonym": [ [ "marked failure to thrive", "marked failure to thrive" ], [ "severe faltering weight", "severe falter weight" ], [ "severe postnatal failure to thrive", "severe postnatal failure to thrive" ], [ "severe weight faltering", "severe weight faltering" ] ], "xref": [ "UMLS:C1855514" ], "is_a": [ "HP:0001508" ], "is_obsolete": "", "replace_id": "" }, "HP:0001528": { "name": [ "hemihypertrophy", "hemihypertrophy" ], "alt_id": [ "HP:0006416" ], "def": "Overgrowth of only one side of the body.", "synonym": [ [ "asymmetric limb hypertrophy", "asymmetric limb hypertrophy" ], [ "asymmetric overgrowth", "asymmetric overgrowth" ] ], "xref": [ "SNOMEDCT_US:205838004", "SNOMEDCT_US:56007004", "UMLS:C0332890" ], "is_a": [ "HP:0040064", "HP:0100555" ], "is_obsolete": "", "replace_id": "" }, "HP:0001530": { "name": [ "mild postnatal growth retardation", "mild postnatal growth retardation" ], "alt_id": [ "HP:0008860", "HP:0008917" ], "def": "A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.", "synonym": [ [ "mild growth deficiency", "mild growth deficiency" ], [ "postnatal onset of mild growth retardation", "postnatal onset of mild growth retardation" ] ], "xref": [ "UMLS:C1835580", "UMLS:C3550204" ], "is_a": [ "HP:0008897" ], "is_obsolete": "", "replace_id": "" }, "HP:0001531": { "name": [ "failure to thrive in infancy", "failure to thrive in infancy" ], "alt_id": [ "HP:0008863", "HP:0008925" ], "def": "", "synonym": [ [ "failure to thrive in first year of life", "failure to thrive in first year of life" ], [ "faltering weight in infancy", "falter weight in infancy" ], [ "weight faltering in infancy", "weight falter in infancy" ] ], "xref": [ "UMLS:C1867873" ], "is_a": [ "HP:0001508" ], "is_obsolete": "", "replace_id": "" }, "HP:0001533": { "name": [ "slender build", "slender build" ], "alt_id": [ "HP:0001529" ], "def": "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.", "synonym": [ [ "asthenic habitus", "asthenic habitus" ], [ "slender build", "slender build" ], [ "thin body habitus", "thin body habitus" ], [ "thin build", "thin build" ] ], "xref": [ "UMLS:C1850573" ], "is_a": [ "HP:0000098", "HP:0004325" ], "is_obsolete": "", "replace_id": "" }, "HP:0001537": { "name": [ "umbilical hernia", "umbilical hernia" ], "alt_id": [], "def": "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.", "synonym": [ [ "umbilical hernias", "umbilical hernia" ] ], "xref": [ "Fyler:4445", "SNOMEDCT_US:396347007", "UMLS:C0019322" ], "is_a": [ "HP:0001551", "HP:0004299" ], "is_obsolete": "", "replace_id": "" }, "HP:0001538": { "name": [ "protuberant abdomen", "protuberant abdomen" ], "alt_id": [], "def": "A thrusting or bulging out of the abdomen.", "synonym": [ [ "abdominal protuberance", "abdominal protuberance" ], [ "belly sticks out", "belly stick out" ], [ "extended belly", "extend belly" ] ], "xref": [ "UMLS:C1854928" ], "is_a": [ "HP:0003270" ], "is_obsolete": "", "replace_id": "" }, "HP:0001539": { "name": [ "omphalocele", "omphalocele" ], "alt_id": [], "def": "A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.", "synonym": [ [ "omphalocoele", "omphalocoele" ] ], "xref": [ "Fyler:4404", "MEDDRA:10030309 \"Omphalocoele\"", "MSH:D006554", "SNOMEDCT_US:18735004", "UMLS:C0795690" ], "is_a": [ "HP:0004299" ], "is_obsolete": "", "replace_id": "" }, "HP:0001540": { "name": [ "diastasis recti", "diastasis rectus" ], "alt_id": [], "def": "A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).", "synonym": [ [ "gap between large left and right abdominal muscles", "gap between large left and right abdominal muscle" ] ], "xref": [ "SNOMEDCT_US:62629000", "UMLS:C0221766" ], "is_a": [ "HP:0010991" ], "is_obsolete": "", "replace_id": "" }, "HP:0001541": { "name": [ "ascites", "ascites" ], "alt_id": [], "def": "Accumulation of fluid in the peritoneal cavity.", "synonym": [ [ "accumulation of fluid in the abdomen", "accumulation of fluid in the abdomen" ] ], "xref": [ "MSH:D001201", "SNOMEDCT_US:389026000", "UMLS:C0003962" ], "is_a": [ "HP:0001438" ], "is_obsolete": "", "replace_id": "" }, "HP:0001543": { "name": [ "gastroschisis", "gastroschisis" ], "alt_id": [], "def": "A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus.", "synonym": [], "xref": [ "MEDDRA:10018046 \"Gastroschisis\"", "MSH:D020139", "SNOMEDCT_US:72951007", "UMLS:C0265706" ], "is_a": [ "HP:0010866" ], "is_obsolete": "", "replace_id": "" }, "HP:0001544": { "name": [ "prominent umbilicus", "prominent umbilicus" ], "alt_id": [], "def": "Abnormally prominent umbilicus (belly button).", "synonym": [ [ "prominent belly button", "prominent belly button" ], [ "prominent navel", "prominent navel" ] ], "xref": [ "UMLS:C1837795" ], "is_a": [ "HP:0001551" ], "is_obsolete": "", "replace_id": "" }, "HP:0001545": { "name": [ "anteriorly placed anus", "anteriorly place anus" ], "alt_id": [], "def": "Anterior malposition of the anus.", "synonym": [ [ "anteriorly displaced anus", "anteriorly displace anus" ], [ "anus anteposition", "anus anteposition" ] ], "xref": [ "UMLS:C1838705" ], "is_a": [ "HP:0004397" ], "is_obsolete": "", "replace_id": "" }, "HP:0001547": { "name": [ "abnormal rib cage morphology", "abnormal rib cage morphology" ], "alt_id": [], "def": "A morphological anomaly of the rib cage.", "synonym": [ [ "abnormality of the rib cage", "abnormality of the rib cage" ] ], "xref": [ "UMLS:C4025763" ], "is_a": [ "HP:0000765" ], "is_obsolete": "", "replace_id": "" }, "HP:0001548": { "name": [ "overgrowth", "overgrowth" ], "alt_id": [], "def": "Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.", "synonym": [ [ "general overgrowth", "general overgrowth" ], [ "generalised overgrowth", "generalise overgrowth" ], [ "generalized overgrowth", "generalize overgrowth" ] ], "xref": [ "UMLS:C1849265", "UMLS:C1851731", "UMLS:C3150281" ], "is_a": [ "HP:0000098" ], "is_obsolete": "", "replace_id": "" }, "HP:0001549": { "name": [ "abnormal ileum morphology", "abnormal ileum morphology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the ileum", "abnormality of the ileum" ] ], "xref": [ "UMLS:C4025762" ], "is_a": [ "HP:0002244" ], "is_obsolete": "", "replace_id": "" }, "HP:0001551": { "name": [ "abnormal umbilicus morphology", "abnormal umbilicus morphology" ], "alt_id": [], "def": "An abnormality of the structure or appearance of the umbilicus.", "synonym": [ [ "abnormal belly button", "abnormal belly button" ], [ "abnormal navel", "abnormal navel" ], [ "abnormal umbilicus", "abnormal umbilicus" ] ], "xref": [ "UMLS:C1849338" ], "is_a": [ "HP:0004298" ], "is_obsolete": "", "replace_id": "" }, "HP:0001552": { "name": [ "barrel - shaped chest", "barrel - shape chest" ], "alt_id": [ "HP:0000781", "HP:0001553" ], "def": "A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.", "synonym": [ [ "barrel chest", "barrel chest" ], [ "barrel - shaped chest", "barrel - shape chest" ] ], "xref": [ "SNOMEDCT_US:24228002", "UMLS:C0264172" ], "is_a": [ "HP:0100625" ], "is_obsolete": "", "replace_id": "" }, "HP:0001555": { "name": [ "asymmetry of the thorax", "asymmetry of the thorax" ], "alt_id": [], "def": "Lack of symmetry between the left and right halves of the thorax.", "synonym": [ [ "asymmetric chest", "asymmetric chest" ] ], "xref": [ "UMLS:C1858033" ], "is_a": [ "HP:0001547" ], "is_obsolete": "", "replace_id": "" }, "HP:0001557": { "name": [ "prenatal movement abnormality", "prenatal movement abnormality" ], "alt_id": [ "HP:0007629" ], "def": "An abnormality of fetal movement.", "synonym": [ [ "abnormal intrauterine movements", "abnormal intrauterine movement" ] ], "xref": [ "UMLS:C1849510" ], "is_a": [ "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0001558": { "name": [ "decreased fetal movement", "decrease fetal movement" ], "alt_id": [ "HP:0001559", "HP:0006840", "HP:0007630", "HP:0007631" ], "def": "An abnormal reduction in quantity or strength of fetal movements.", "synonym": [ [ "decreased fetal activity", "decreased fetal activity" ], [ "decreased fetal movements", "decrease fetal movement" ], [ "decreased foetal activity", "decreased foetal activity" ], [ "decreased foetal movement", "decrease foetal movement" ], [ "decreased foetal movements", "decrease foetal movement" ], [ "decreased movement in utero", "decrease movement in utero" ], [ "fetal hypokinesia", "fetal hypokinesia" ], [ "foetal hypokinesia", "foetal hypokinesia" ], [ "less than 10 fetal movements in 12 hours", "less than 10 fetal movement in 12 hour" ], [ "less than 10 foetal movements in 12 hours", "less than 10 foetal movement in 12 hour" ], [ "reduced fetal movement", "reduce fetal movement" ], [ "reduced fetal movements", "reduce fetal movement" ], [ "reduced foetal movement", "reduce foetal movement" ], [ "reduced foetal movements", "reduce foetal movement" ] ], "xref": [ "SNOMEDCT_US:276369006", "UMLS:C0235659" ], "is_a": [ "HP:0001557" ], "is_obsolete": "", "replace_id": "" }, "HP:0001560": { "name": [ "abnormality of the amniotic fluid", "abnormality of the amniotic fluid" ], "alt_id": [], "def": "Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.", "synonym": [ [ "abnormal amniotic fluid", "abnormal amniotic fluid" ] ], "xref": [ "SNOMEDCT_US:42170009", "UMLS:C0266781" ], "is_a": [ "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0001561": { "name": [ "polyhydramnios", "polyhydramnios" ], "alt_id": [ "HP:0005098" ], "def": "The presence of excess amniotic fluid in the uterus during pregnancy.", "synonym": [ [ "high levels of amniotic fluid", "high level of amniotic fluid" ], [ "hydramnios", "hydramnios" ] ], "xref": [ "MSH:D006831", "SNOMEDCT_US:86203003", "UMLS:C0020224" ], "is_a": [ "HP:0001560" ], "is_obsolete": "", "replace_id": "" }, "HP:0001562": { "name": [ "oligohydramnios", "oligohydramnios" ], "alt_id": [ "HP:0004638" ], "def": "Diminished amniotic fluid volume in pregnancy.", "synonym": [ [ "low levels of amniotic fluid", "low level of amniotic fluid" ], [ "maternal oligohydramnios", "maternal oligohydramnios" ] ], "xref": [ "MSH:D016104", "SNOMEDCT_US:59566000", "UMLS:C0079924", "UMLS:C3550658" ], "is_a": [ "HP:0001560" ], "is_obsolete": "", "replace_id": "" }, "HP:0001563": { "name": [ "fetal polyuria", "fetal polyuria" ], "alt_id": [], "def": "Abnormally increased production of urine by the fetus resulting in polyhydramnios.", "synonym": [ [ "foetal polyuria", "foetal polyuria" ] ], "xref": [ "UMLS:C1865279" ], "is_a": [ "HP:0001560" ], "is_obsolete": "", "replace_id": "" }, "HP:0001566": { "name": [ "widely - spaced maxillary central incisors", "widely - space maxillary central incisor" ], "alt_id": [ "HP:0000669", "HP:0001570", "HP:0006300", "HP:0006324" ], "def": "Increased distance between the maxillary central permanent incisor tooth.", "synonym": [ [ "central incisor gap", "central incisor gap" ], [ "diastasis of the central incisors", "diastasis of the central incisor" ], [ "diastema between maxillary central incisors", "diastema between maxillary central incisor" ], [ "diastema between upper front teeth", "diastema between upper front teeth" ], [ "diastema between upper incisors", "diastema between upper incisor" ], [ "gap between upper front teeth", "gap between upper front teeth" ], [ "separated superior central incisors", "separate superior central incisor" ], [ "wide gap between upper central incisors", "wide gap between upper central incisor" ], [ "wide upper central incisors", "wide upper central incisor" ], [ "widely spaced upper incisors", "widely space upper incisor" ] ], "xref": [ "UMLS:C1835762", "UMLS:C1845110", "UMLS:C4280252" ], "is_a": [ "HP:0006304" ], "is_obsolete": "", "replace_id": "" }, "HP:0001571": { "name": [ "multiple impacted teeth", "multiple impacted teeth" ], "alt_id": [], "def": "The presence of multiple impacted teeth.", "synonym": [ [ "impacted teeth", "impact teeth" ], [ "multiple buried teeth", "multiple bury teeth" ], [ "multiple impacted teeth", "multiple impacted teeth" ], [ "multiple retained teeth", "multiple retain teeth" ] ], "xref": [ "UMLS:C1839965", "UMLS:C4280593" ], "is_a": [ "HP:0011079" ], "is_obsolete": "", "replace_id": "" }, "HP:0001572": { "name": [ "macrodontia", "macrodontia" ], "alt_id": [], "def": "Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.", "synonym": [ [ "hyperplasia of tooth", "hyperplasia of tooth" ], [ "hypertrophy of tooth", "hypertrophy of tooth" ], [ "increased size of tooth", "increase size of tooth" ], [ "increased width of tooth", "increase width of tooth" ], [ "large tooth", "large tooth" ], [ "megalodontia", "megalodontia" ], [ "tooth mass excess", "tooth mass excess" ] ], "xref": [ "SNOMEDCT_US:71485000", "UMLS:C0266036", "UMLS:C4280590", "UMLS:C4280591", "UMLS:C4280592" ], "is_a": [ "HP:0006482" ], "is_obsolete": "", "replace_id": "" }, "HP:0001574": { "name": [ "abnormality of the integument", "abnormality of the integument" ], "alt_id": [], "def": "An abnormality of the integument, which consists of the skin and the superficial fascia.", "synonym": [], "xref": [ "UMLS:C4025761" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0001575": { "name": [ "obsolete mood changes", "obsolete mood change" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000712" }, "HP:0001579": { "name": [ "primary hypercortisolism", "primary hypercortisolism" ], "alt_id": [], "def": "Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.", "synonym": [ [ "acth - independent hypercortisolemia", "acth - independent hypercortisolemia" ] ], "xref": [ "UMLS:C1968852", "UMLS:C4025760" ], "is_a": [ "HP:0003118" ], "is_obsolete": "", "replace_id": "" }, "HP:0001580": { "name": [ "pigmented micronodular adrenocortical disease", "pigment micronodular adrenocortical disease" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1968851" ], "is_a": [ "HP:0000849" ], "is_obsolete": "", "replace_id": "" }, "HP:0001581": { "name": [ "recurrent skin infections", "recurrent skin infection" ], "alt_id": [ "HP:0007563" ], "def": "Infections of the skin that happen multiple times.", "synonym": [ [ "cutaneous infections", "cutaneous infection" ], [ "recurrent skin infections", "recurrent skin infection" ], [ "skin infections , recurrent", "skin infection , recurrent" ] ], "xref": [ "UMLS:C1853193" ], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0001582": { "name": [ "redundant skin", "redundant skin" ], "alt_id": [ "HP:0007391" ], "def": "Loose and sagging skin often associated with loss of skin elasticity.", "synonym": [ [ "loose redundant skin", "loose redundant skin" ], [ "redundant skin folds", "redundant skin fold" ], [ "sagging , redundant skin", "sagging , redundant skin" ] ], "xref": [ "SNOMEDCT_US:201093004", "UMLS:C0581342" ], "is_a": [ "HP:0000973" ], "is_obsolete": "", "replace_id": "" }, "HP:0001583": { "name": [ "rotary nystagmus", "rotary nystagmus" ], "alt_id": [], "def": "A form of nystagmus in which the eyeball makes rotary motions around the axis.", "synonym": [ [ "rotatory nystagmus", "rotatory nystagmus" ] ], "xref": [ "MSH:D009759", "SNOMEDCT_US:44526006", "SNOMEDCT_US:95783006", "UMLS:C0240595" ], "is_a": [ "HP:0000639" ], "is_obsolete": "", "replace_id": "" }, "HP:0001586": { "name": [ "vesicovaginal fistula", "vesicovaginal fistula" ], "alt_id": [], "def": "The presence of a fistula connecting the urinary bladder to the vagina.", "synonym": [], "xref": [ "MSH:D014719", "SNOMEDCT_US:89405008", "UMLS:C0042582" ], "is_a": [ "HP:0004320", "HP:0004321" ], "is_obsolete": "", "replace_id": "" }, "HP:0001587": { "name": [ "obsolete primary ovarian failure", "obsolete primary ovarian failure" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0001591": { "name": [ "bell - shaped thorax", "bell - shape thorax" ], "alt_id": [ "HP:0006626", "HP:0006664" ], "def": "The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.", "synonym": [ [ "bell - shaped chest", "bell - shape chest" ], [ "constricted , bell - shaped thorax", "constrict , bell - shape thorax" ], [ "narrow , bell - shaped thorax", "narrow , bell - shape thorax" ] ], "xref": [ "UMLS:C1865186" ], "is_a": [ "HP:0001547" ], "is_obsolete": "", "replace_id": "" }, "HP:0001592": { "name": [ "selective tooth agenesis", "selective tooth agenesis" ], "alt_id": [], "def": "Agenesis specifically affecting one of the classes incisor, premolar, or molar.", "synonym": [ [ "absence of a tooth", "absence of a tooth" ], [ "agenesis of a tooth", "agenesis of a tooth" ], [ "failure of development of a tooth", "failure of development of a tooth" ], [ "missing a tooth", "miss a tooth" ] ], "xref": [ "UMLS:C1970308", "UMLS:C4280251" ], "is_a": [ "HP:0009804" ], "is_obsolete": "", "replace_id": "" }, "HP:0001593": { "name": [ "maxillary lateral incisor microdontia", "maxillary lateral incisor microdontia" ], "alt_id": [], "def": "Decreased size of the maxillary permanent incisor.", "synonym": [ [ "decreased size of maxillary lateral incisor", "decreased size of maxillary lateral incisor" ], [ "decreased size of upper lateral incisor", "decreased size of upper lateral incisor" ], [ "decreased width of upper lateral incisor", "decrease width of upper lateral incisor" ], [ "hypotrophic maxillary lateral incisor", "hypotrophic maxillary lateral incisor" ], [ "hypotrophic upper lateral incisor", "hypotrophic upper lateral incisor" ], [ "small maxillary lateral incisor", "small maxillary lateral incisor" ], [ "small upper lateral incisor", "small upper lateral incisor" ] ], "xref": [ "UMLS:C1845111", "UMLS:C4280588", "UMLS:C4280589" ], "is_a": [ "HP:0000691", "HP:0011063" ], "is_obsolete": "", "replace_id": "" }, "HP:0001595": { "name": [ "abnormal hair morphology", "abnormal hair morphology" ], "alt_id": [], "def": "An abnormality of the hair.", "synonym": [ [ "abnormality of the hair", "abnormality of the hair" ], [ "abnormality of the hair shaft", "abnormality of the hair shaft" ], [ "hair abnormality", "hair abnormality" ] ], "xref": [ "UMLS:C0157733", "UMLS:C2677869" ], "is_a": [ "HP:0011138" ], "is_obsolete": "", "replace_id": "" }, "HP:0001596": { "name": [ "alopecia", "alopecia" ], "alt_id": [ "HP:0002238", "HP:0008068" ], "def": "A noncongenital process of hair loss, which may progress to partial or complete baldness.", "synonym": [ [ "hair loss", "hair loss" ] ], "xref": [ "MEDDRA:10001760 \"Alopecia\"", "MSH:D000505", "SNOMEDCT_US:278040002", "SNOMEDCT_US:56317004", "UMLS:C0002170" ], "is_a": [ "HP:0011362" ], "is_obsolete": "", "replace_id": "" }, "HP:0001597": { "name": [ "abnormality of the nail", "abnormality of the nail" ], "alt_id": [], "def": "Abnormality of the nail.", "synonym": [ [ "abnormality of the nail", "abnormality of the nail" ], [ "nail disease", "nail disease" ] ], "xref": [ "MSH:D009260", "MSH:D009264", "SNOMEDCT_US:17790008", "UMLS:C0027339", "UMLS:C0853087" ], "is_a": [ "HP:0011138" ], "is_obsolete": "", "replace_id": "" }, "HP:0001598": { "name": [ "concave nail", "concave nail" ], "alt_id": [ "HP:0001815" ], "def": "The natural longitudinal (posterodistal) convex arch is not present or is inverted.", "synonym": [ [ "koilonychia", "koilonychia" ], [ "spoon - shaped nails", "spoon - shape nail" ] ], "xref": [ "SNOMEDCT_US:66270006", "UMLS:C0221261" ], "is_a": [ "HP:0002164" ], "is_obsolete": "", "replace_id": "" }, "HP:0001600": { "name": [ "abnormality of the larynx", "abnormality of the larynx" ], "alt_id": [], "def": "An abnormality of the larynx.", "synonym": [ [ "laryngeal abnormalities", "laryngeal abnormality" ], [ "laryngeal anomalies", "laryngeal anomaly" ] ], "xref": [ "UMLS:C4021777" ], "is_a": [ "HP:0002087" ], "is_obsolete": "", "replace_id": "" }, "HP:0001601": { "name": [ "laryngomalacia", "laryngomalacia" ], "alt_id": [], "def": "Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.", "synonym": [ [ "softening of voice box tissue", "softening of voice box tissue" ] ], "xref": [ "MSH:D055092", "SNOMEDCT_US:38086007", "UMLS:C0264303" ], "is_a": [ "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0001602": { "name": [ "laryngeal stenosis", "laryngeal stenosis" ], "alt_id": [], "def": "Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.", "synonym": [], "xref": [ "MSH:D007829", "SNOMEDCT_US:75547007", "UMLS:C0023075" ], "is_a": [ "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0001604": { "name": [ "vocal cord paresis", "vocal cord paresis" ], "alt_id": [ "HP:0001603", "HP:0001616", "HP:0008745" ], "def": "Decreased strength of the vocal folds.", "synonym": [ [ "hoarse voice due to vocal cord paresis", "hoarse voice due to vocal cord paresis" ], [ "vocal cord paresis in severe cases", "vocal cord paresis in severe case" ], [ "weakness of the vocal cords", "weakness of the vocal cord" ] ], "xref": [ "MSH:D014826", "SNOMEDCT_US:302912005", "SNOMEDCT_US:445424004", "UMLS:C0751576", "UMLS:C1832690", "UMLS:C1843187", "UMLS:C1853729" ], "is_a": [ "HP:0001605" ], "is_obsolete": "", "replace_id": "" }, "HP:0001605": { "name": [ "vocal cord paralysis", "vocal cord paralysis" ], "alt_id": [ "HP:0001606", "HP:0006847" ], "def": "A loss of the ability to move the vocal folds.", "synonym": [ [ "inability to move vocal cords", "inability to move vocal cord" ], [ "laryngeal paralysis", "laryngeal paralysis" ] ], "xref": [ "MSH:D014826", "SNOMEDCT_US:302912005", "UMLS:C0042928", "UMLS:C1854345" ], "is_a": [ "HP:0003470", "HP:0031801" ], "is_obsolete": "", "replace_id": "" }, "HP:0001606": { "name": [ "obsolete vocal cord paralysis ( caused by tumor impingement )", "obsolete vocal cord paralysis ( cause by tumor impingement )" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001605" }, "HP:0001607": { "name": [ "subglottic stenosis", "subglottic stenosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:22668006", "UMLS:C0238441" ], "is_a": [ "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0001608": { "name": [ "abnormality of the voice", "abnormality of the voice" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the voice", "abnormality of the voice" ], [ "voice abnormality", "voice abnormality" ] ], "xref": [ "UMLS:C4021776" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0001609": { "name": [ "hoarse voice", "hoarse voice" ], "alt_id": [ "HP:0001613", "HP:0001619" ], "def": "Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.", "synonym": [ [ "hoarse voice", "hoarse voice" ], [ "hoarseness", "hoarseness" ], [ "husky voice", "husky voice" ] ], "xref": [ "MSH:D006685", "SNOMEDCT_US:50219008", "UMLS:C0019825", "UMLS:C1854348" ], "is_a": [ "HP:0001608" ], "is_obsolete": "", "replace_id": "" }, "HP:0001611": { "name": [ "nasal speech", "nasal speech" ], "alt_id": [ "HP:0001614" ], "def": "A type of speech characterized by the presence of an abnormally increased nasal airflow during speech.", "synonym": [ [ "hypernasal speech", "hypernasal speech" ], [ "hypernasal voice", "hypernasal voice" ], [ "nasal speech", "nasal speech" ], [ "nasal voice", "nasal voice" ] ], "xref": [ "SNOMEDCT_US:229645001", "SNOMEDCT_US:289190003", "UMLS:C0454555", "UMLS:C0566620" ], "is_a": [ "HP:0001608" ], "is_obsolete": "", "replace_id": "" }, "HP:0001612": { "name": [ "weak cry", "weak cry" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:2120003", "UMLS:C0234860" ], "is_a": [ "HP:0025429" ], "is_obsolete": "", "replace_id": "" }, "HP:0001613": { "name": [ "obsolete hoarse voice ( caused by tumor impingement )", "obsolete hoarse voice ( cause by tumor impingement )" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001609" }, "HP:0001615": { "name": [ "hoarse cry", "hoarse cry" ], "alt_id": [], "def": "", "synonym": [ [ "hoarse cry", "hoarse cry" ] ], "xref": [ "UMLS:C2678303" ], "is_a": [ "HP:0001609" ], "is_obsolete": "", "replace_id": "" }, "HP:0001618": { "name": [ "dysphonia", "dysphonia" ], "alt_id": [], "def": "An impairment in the ability to produce voice sounds.", "synonym": [ [ "inability to produce voice sounds", "inability to produce voice sound" ], [ "voice change", "voice change" ] ], "xref": [ "MSH:D055154", "SNOMEDCT_US:47004009", "UMLS:C1527344" ], "is_a": [ "HP:0001608", "HP:0002167" ], "is_obsolete": "", "replace_id": "" }, "HP:0001620": { "name": [ "high pitched voice", "high pitch voice" ], "alt_id": [ "HP:0001610", "HP:0008374", "HP:0008377", "HP:0008378", "HP:0008379", "HP:0009146" ], "def": "An abnormal increase in the pitch (frequency) of the voice.", "synonym": [ [ "high pitched voice", "high pitch voice" ], [ "high - pitched voice", "high - pitched voice" ] ], "xref": [ "SNOMEDCT_US:51406002", "UMLS:C0241703" ], "is_a": [ "HP:0001608" ], "is_obsolete": "", "replace_id": "" }, "HP:0001621": { "name": [ "weak voice", "weak voice" ], "alt_id": [], "def": "Reduced intensity (volume) of speech.", "synonym": [ [ "hypophonia", "hypophonia" ], [ "soft voice", "soft voice" ], [ "weak voice", "weak voice" ] ], "xref": [ "MSH:D014832", "SNOMEDCT_US:34527004", "SNOMEDCT_US:8614008", "UMLS:C0241700", "UMLS:C0521007" ], "is_a": [ "HP:0001608" ], "is_obsolete": "", "replace_id": "" }, "HP:0001622": { "name": [ "premature birth", "premature birth" ], "alt_id": [], "def": "The birth of a baby of less than 37 weeks of gestational age.", "synonym": [ [ "premature birth", "premature birth" ], [ "premature delivery", "premature delivery" ], [ "premature delivery of affected infants", "premature delivery of affected infant" ], [ "preterm delivery", "preterm delivery" ], [ "shortened gestation time", "shorten gestation time" ] ], "xref": [ "MSH:D047928", "SNOMEDCT_US:282020008", "SNOMEDCT_US:367494004", "SNOMEDCT_US:49550006", "UMLS:C0151526", "UMLS:C0233315" ], "is_a": [ "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0001623": { "name": [ "breech presentation", "breech presentation" ], "alt_id": [], "def": "A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.", "synonym": [ [ "breech presentation at birth", "breech presentation at birth" ], [ "feet or buttocks of fetus positioned near opening of uterus", "foot or buttock of fetus position near opening of uterus" ], [ "feet or buttocks of foetus positioned near opening of uterus", "foot or buttock of foetus position near opening of uterus" ] ], "xref": [ "MSH:D001946", "SNOMEDCT_US:249101006", "SNOMEDCT_US:6096002", "UMLS:C0006157" ], "is_a": [ "HP:0001787" ], "is_obsolete": "", "replace_id": "" }, "HP:0001626": { "name": [ "abnormality of the cardiovascular system", "abnormality of the cardiovascular system" ], "alt_id": [], "def": "Any abnormality of the cardiovascular system.", "synonym": [ [ "abnormality of the cardiovascular system", "abnormality of the cardiovascular system" ], [ "cardiovascular abnormality", "cardiovascular abnormality" ], [ "cardiovascular disease", "cardiovascular disease" ] ], "xref": [ "MSH:D002318", "MSH:D018376", "SNOMEDCT_US:49601007", "UMLS:C0007222", "UMLS:C0243050" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0001627": { "name": [ "abnormal heart morphology", "abnormal heart morphology" ], "alt_id": [ "HP:3000001" ], "def": "Any structural anomaly of the heart.", "synonym": [ [ "abnormality of cardiac morphology", "abnormality of cardiac morphology" ], [ "abnormality of the heart", "abnormality of the heart" ], [ "abnormally shaped heart", "abnormally shaped heart" ], [ "cardiac abnormality", "cardiac abnormality" ], [ "cardiac anomalies", "cardiac anomaly" ], [ "cardiac anomaly", "cardiac anomaly" ], [ "congenital heart defect", "congenital heart defect" ], [ "congenital heart defects", "congenital heart defect" ], [ "heart defect", "heart defect" ] ], "xref": [ "MSH:D006330", "SNOMEDCT_US:13213009", "UMLS:C0018798", "UMLS:C0152021" ], "is_a": [ "HP:0030680" ], "is_obsolete": "", "replace_id": "" }, "HP:0001629": { "name": [ "ventricular septal defect", "ventricular septal defect" ], "alt_id": [ "HP:0001652" ], "def": "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.", "synonym": [ [ "hole in heart wall separating two lower heart chambers", "hole in heart wall separate two low heart chamber" ], [ "ventricular septal defects", "ventricular septal defect" ], [ "ventriculoseptal defect", "ventriculoseptal defect" ] ], "xref": [ "Fyler:1300", "MSH:D006345", "SNOMEDCT_US:253549006", "SNOMEDCT_US:30288003", "UMLS:C0018818" ], "is_a": [ "HP:0010438" ], "is_obsolete": "", "replace_id": "" }, "HP:0001631": { "name": [ "atrial septal defect", "atrial septal defect" ], "alt_id": [ "HP:0001630" ], "def": "Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.", "synonym": [ [ "an opening in the wall separating the top two chambers of the heart", "an opening in the wall separate the top two chamber of the heart" ], [ "atria septal defect", "atrium septal defect" ], [ "atrial septum defect", "atrial septum defect" ], [ "atrioseptal defect", "atrioseptal defect" ], [ "defect in the atrial septum", "defect in the atrial septum" ], [ "hole in heart wall separating two upper heart chambers", "hole in heart wall separate two upper heart chamber" ] ], "xref": [ "Fyler:2050", "ICD-10:Q21.1", "MSH:D006344", "SNOMEDCT_US:253366007", "SNOMEDCT_US:405752007", "SNOMEDCT_US:70142008", "UMLS:C0018817" ], "is_a": [ "HP:0005120", "HP:0011994" ], "is_obsolete": "", "replace_id": "" }, "HP:0001633": { "name": [ "abnormal mitral valve morphology", "abnormal mitral valve morphology" ], "alt_id": [ "HP:0031477" ], "def": "Any structural anomaly of the mitral valve.", "synonym": [ [ "abnormality of the mitral valve", "abnormality of the mitral valve" ] ], "xref": [ "UMLS:C4025759" ], "is_a": [ "HP:0006705" ], "is_obsolete": "", "replace_id": "" }, "HP:0001634": { "name": [ "mitral valve prolapse", "mitral valve prolapse" ], "alt_id": [], "def": "One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.", "synonym": [], "xref": [ "Fyler:1533", "MSH:D008945", "SNOMEDCT_US:409712001", "SNOMEDCT_US:8074002", "UMLS:C0026267" ], "is_a": [ "HP:0001633" ], "is_obsolete": "", "replace_id": "" }, "HP:0001635": { "name": [ "congestive heart failure", "congestive heart failure" ], "alt_id": [ "HP:0006686" ], "def": "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.", "synonym": [ [ "cardiac failure", "cardiac failure" ], [ "cardiac failures", "cardiac failure" ], [ "cardiac insufficiency", "cardiac insufficiency" ], [ "chronic heart failure", "chronic heart failure" ], [ "heart failure", "heart failure" ] ], "xref": [ "MSH:D006333", "SNOMEDCT_US:42343007", "SNOMEDCT_US:84114007", "UMLS:C0018801", "UMLS:C0018802" ], "is_a": [ "HP:0011025" ], "is_obsolete": "", "replace_id": "" }, "HP:0001636": { "name": [ "tetralogy of fallot", "tetralogy of fallot" ], "alt_id": [], "def": "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.", "synonym": [ [ "tetrology of fallot", "tetrology of fallot" ] ], "xref": [ "ICD-10:Q21.3", "MSH:D013771", "SNOMEDCT_US:86299006", "UMLS:C0039685" ], "is_a": [ "HP:0001710" ], "is_obsolete": "", "replace_id": "" }, "HP:0001637": { "name": [ "abnormal myocardium morphology", "abnormal myocardium morphology" ], "alt_id": [], "def": "A structural anomaly of the muscle layer of the heart wall.", "synonym": [ [ "abnormality of the myocardium", "abnormality of the myocardium" ] ], "xref": [ "UMLS:C4025758" ], "is_a": [ "HP:0001627" ], "is_obsolete": "", "replace_id": "" }, "HP:0001638": { "name": [ "cardiomyopathy", "cardiomyopathy" ], "alt_id": [], "def": "A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.", "synonym": [ [ "disease of the heart muscle", "disease of the heart muscle" ] ], "xref": [ "Fyler:1840", "MSH:D009202", "SNOMEDCT_US:57809008", "SNOMEDCT_US:85898001", "UMLS:C0878544" ], "is_a": [ "HP:0001637" ], "is_obsolete": "", "replace_id": "" }, "HP:0001639": { "name": [ "hypertrophic cardiomyopathy", "hypertrophic cardiomyopathy" ], "alt_id": [], "def": "Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.", "synonym": [ [ "cardiomyopathy , hypertrophic", "cardiomyopathy , hypertrophic" ], [ "enlarged and thickened heart muscle", "enlarge and thicken heart muscle" ] ], "xref": [ "MSH:D002312", "SNOMEDCT_US:233873004", "SNOMEDCT_US:45227007", "UMLS:C0007194" ], "is_a": [ "HP:0001638" ], "is_obsolete": "", "replace_id": "" }, "HP:0001640": { "name": [ "cardiomegaly", "cardiomegaly" ], "alt_id": [], "def": "Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.", "synonym": [ [ "enlarged heart", "enlarge heart" ], [ "increased heart size", "increase heart size" ] ], "xref": [ "MSH:D006332", "SNOMEDCT_US:8186001", "UMLS:C0018800" ], "is_a": [ "HP:0001627" ], "is_obsolete": "", "replace_id": "" }, "HP:0001641": { "name": [ "abnormal pulmonary valve morphology", "abnormal pulmonary valve morphology" ], "alt_id": [], "def": "Any structural abnormality of the pulmonary valve.", "synonym": [ [ "abnormality of the pulmonary valve", "abnormality of the pulmonary valve" ], [ "anomaly of the pulmonary valve", "anomaly of the pulmonary valve" ] ], "xref": [ "Fyler:1600", "Fyler:1602", "SNOMEDCT_US:448643005", "UMLS:C3164374" ], "is_a": [ "HP:0001654" ], "is_obsolete": "", "replace_id": "" }, "HP:0001642": { "name": [ "pulmonic stenosis", "pulmonic stenosis" ], "alt_id": [], "def": "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).", "synonym": [ [ "narrowing of pulmonic valve", "narrowing of pulmonic valve" ], [ "pulmonary stenosis", "pulmonary stenosis" ], [ "pulmonary valve stenosis", "pulmonary valve stenosis" ], [ "pulmonic valve stenosis", "pulmonic valve stenosis" ] ], "xref": [ "Fyler:1611", "MSH:D011666", "SNOMEDCT_US:56786000", "UMLS:C1956257" ], "is_a": [ "HP:0031654" ], "is_obsolete": "", "replace_id": "" }, "HP:0001643": { "name": [ "patent ductus arteriosus", "patent ductus arteriosus" ], "alt_id": [], "def": "In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.", "synonym": [ [ "ductus arteriosus", "ductus arteriosus" ], [ "persistent arterial duct", "persistent arterial duct" ], [ "persistent ductus arteriosus", "persistent ductus arteriosus" ] ], "xref": [ "Fyler:2100", "MSH:D004374", "SNOMEDCT_US:83330001", "UMLS:C0013274" ], "is_a": [ "HP:0011603" ], "is_obsolete": "", "replace_id": "" }, "HP:0001644": { "name": [ "dilated cardiomyopathy", "dilate cardiomyopathy" ], "alt_id": [ "HP:0001725", "HP:0005159", "HP:0200130" ], "def": "Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.", "synonym": [ [ "cardiomyopathy , dilated", "cardiomyopathy , dilate" ], [ "congestive cardiomyopathy", "congestive cardiomyopathy" ], [ "stretched and thinned heart muscle", "stretch and thin heart muscle" ] ], "xref": [ "Fyler:1843", "MSH:D002311", "SNOMEDCT_US:195021004", "SNOMEDCT_US:399020009", "UMLS:C0007193" ], "is_a": [ "HP:0001638" ], "is_obsolete": "", "replace_id": "" }, "HP:0001645": { "name": [ "sudden cardiac death", "sudden cardiac death" ], "alt_id": [ "HP:0005161" ], "def": "The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).", "synonym": [ [ "premature sudden cardiac death", "premature sudden cardiac death" ], [ "sudden cardiac death", "sudden cardiac death" ] ], "xref": [ "MSH:D016757", "SNOMEDCT_US:95281009", "UMLS:C0085298" ], "is_a": [ "HP:0001695", "HP:0001699" ], "is_obsolete": "", "replace_id": "" }, "HP:0001646": { "name": [ "abnormal aortic valve morphology", "abnormal aortic valve morphology" ], "alt_id": [], "def": "Any abnormality of the aortic valve.", "synonym": [ [ "abnormality of the aortic valve", "abnormality of the aortic valve" ] ], "xref": [ "Fyler:1400", "Fyler:1408", "SNOMEDCT_US:448743001", "UMLS:C3164445" ], "is_a": [ "HP:0001654" ], "is_obsolete": "", "replace_id": "" }, "HP:0001647": { "name": [ "bicuspid aortic valve", "bicuspid aortic valve" ], "alt_id": [], "def": "The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).", "synonym": [ [ "aortic valve has two leaflets rather than three", "aortic valve have two leaflet rather than three" ] ], "xref": [ "MSH:C562388", "SNOMEDCT_US:72352009", "UMLS:C0149630" ], "is_a": [ "HP:0031567" ], "is_obsolete": "", "replace_id": "" }, "HP:0001648": { "name": [ "cor pulmonale", "cor pulmonale" ], "alt_id": [], "def": "Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.", "synonym": [], "xref": [ "MSH:D011660", "SNOMEDCT_US:274096000", "SNOMEDCT_US:83291003", "UMLS:C0034072" ], "is_a": [ "HP:0001707" ], "is_obsolete": "", "replace_id": "" }, "HP:0001649": { "name": [ "tachycardia", "tachycardia" ], "alt_id": [ "HP:0001673", "HP:0001720" ], "def": "A rapid heartrate that exceeds the range of the normal resting heartrate for age.", "synonym": [ [ "elevated heart rate", "elevate heart rate" ], [ "fast heart rate", "fast heart rate" ], [ "heart racing", "heart race" ], [ "increased heart rate", "increase heart rate" ], [ "racing heart", "race heart" ], [ "rapid heart beat", "rapid heart beat" ] ], "xref": [ "MSH:D013610", "SNOMEDCT_US:3424008", "SNOMEDCT_US:86651002", "UMLS:C0039231", "UMLS:C4020868" ], "is_a": [ "HP:0004308" ], "is_obsolete": "", "replace_id": "" }, "HP:0001650": { "name": [ "aortic valve stenosis", "aortic valve stenosis" ], "alt_id": [ "HP:0005140" ], "def": "The presence of a stenosis (narrowing) of the aortic valve.", "synonym": [ [ "aortic stenosis", "aortic stenosis" ], [ "narrowing of aortic valve", "narrowing of aortic valve" ], [ "valvular aortic stenosis", "valvular aortic stenosis" ] ], "xref": [ "Fyler:1411", "MSH:D001024", "SNOMEDCT_US:60573004", "UMLS:C0003507" ], "is_a": [ "HP:0031652" ], "is_obsolete": "", "replace_id": "" }, "HP:0001651": { "name": [ "dextrocardia", "dextrocardia" ], "alt_id": [], "def": "The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \\\"mirror reflection\\\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.", "synonym": [ [ "heart tip and four chambers point towards right side of body", "heart tip and four chamber point towards right side of body" ], [ "thoracic situs inversus", "thoracic situs inversus" ] ], "xref": [ "EPCC:02.01.02", "Fyler:0110", "Fyler:110", "ICD-10:Q24.0", "MSH:D003914", "SNOMEDCT_US:27637000", "UMLS:C0011813" ], "is_a": [ "HP:0004307" ], "is_obsolete": "", "replace_id": "" }, "HP:0001653": { "name": [ "mitral regurgitation", "mitral regurgitation" ], "alt_id": [], "def": "An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.", "synonym": [ [ "mitral incompetence", "mitral incompetence" ], [ "mitral insufficiency", "mitral insufficiency" ], [ "mitral regurgitation , mild", "mitral regurgitation , mild" ], [ "mitral valve insufficiency", "mitral valve insufficiency" ], [ "mitral valve regurgitation", "mitral valve regurgitation" ] ], "xref": [ "Fyler:1151", "MSH:D008944", "SNOMEDCT_US:48724000", "UMLS:C0026266", "UMLS:C3551535" ], "is_a": [ "HP:0031481" ], "is_obsolete": "", "replace_id": "" }, "HP:0001654": { "name": [ "abnormal heart valve morphology", "abnormal heart valve morphology" ], "alt_id": [ "HP:0001703" ], "def": "Any structural abnormality of a cardiac valve.", "synonym": [ [ "abnormality of the heart valves", "abnormality of the heart valve" ], [ "valvular abnormality", "valvular abnormality" ], [ "valvular heart disease", "valvular heart disease" ] ], "xref": [ "MSH:D006349", "SNOMEDCT_US:368009", "UMLS:C0018824", "UMLS:C0241654" ], "is_a": [ "HP:0001627" ], "is_obsolete": "", "replace_id": "" }, "HP:0001655": { "name": [ "patent foramen ovale", "patent foramen ovale" ], "alt_id": [], "def": "Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.", "synonym": [ [ "persistent foramen ovale", "persistent foramen ovale" ] ], "xref": [ "Fyler:2020", "ICD-10:Q21.1", "MSH:D054092", "SNOMEDCT_US:204317008", "UMLS:C0016522" ], "is_a": [ "HP:0001631" ], "is_obsolete": "", "replace_id": "" }, "HP:0001657": { "name": [ "prolonged qt interval", "prolonged qt interval" ], "alt_id": [], "def": "Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).", "synonym": [ [ "long q - t syndrome", "long q - t syndrome" ], [ "long qt syndrome", "long qt syndrome" ], [ "prolong qt interval on ekg", "prolong qt interval on ekg" ] ], "xref": [ "SNOMEDCT_US:111975006", "UMLS:C0151878" ], "is_a": [ "HP:0031547" ], "is_obsolete": "", "replace_id": "" }, "HP:0001658": { "name": [ "myocardial infarction", "myocardial infarction" ], "alt_id": [], "def": "Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.", "synonym": [ [ "heart attack", "heart attack" ] ], "xref": [ "MSH:D009203", "SNOMEDCT_US:22298006", "UMLS:C0027051" ], "is_a": [ "HP:0033678" ], "is_obsolete": "", "replace_id": "" }, "HP:0001659": { "name": [ "aortic regurgitation", "aortic regurgitation" ], "alt_id": [], "def": "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.", "synonym": [ [ "aortic insufficiency", "aortic insufficiency" ], [ "aortic valve regurgitation", "aortic valve regurgitation" ] ], "xref": [ "MSH:D001022", "SNOMEDCT_US:60234000", "UMLS:C0003504" ], "is_a": [ "HP:0031652" ], "is_obsolete": "", "replace_id": "" }, "HP:0001660": { "name": [ "truncus arteriosus", "truncus arteriosus" ], "alt_id": [], "def": "A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.", "synonym": [ [ "common arterial trunk", "common arterial trunk" ], [ "persistant truncus arteriosus", "persistant truncus arteriosus" ] ], "xref": [ "Fyler:0500", "Fyler:500", "ICD-10:Q20.0", "MSH:D014338", "SNOMEDCT_US:58140002", "UMLS:C0041206", "UMLS:C4020867" ], "is_a": [ "HP:0011603" ], "is_obsolete": "", "replace_id": "" }, "HP:0001662": { "name": [ "bradycardia", "bradycardia" ], "alt_id": [], "def": "A slower than normal heart rate (in adults, slower than 60 beats per minute).", "synonym": [ [ "brachycardia", "brachycardia" ], [ "slow heartbeats", "slow heartbeat" ] ], "xref": [ "MSH:D001919", "SNOMEDCT_US:48867003", "UMLS:C0428977" ], "is_a": [ "HP:0011675" ], "is_obsolete": "", "replace_id": "" }, "HP:0001663": { "name": [ "ventricular fibrillation", "ventricular fibrillation" ], "alt_id": [ "HP:0005166" ], "def": "Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.", "synonym": [], "xref": [ "MSH:D014693", "SNOMEDCT_US:71908006", "UMLS:C0042510" ], "is_a": [ "HP:0004308" ], "is_obsolete": "", "replace_id": "" }, "HP:0001664": { "name": [ "torsade de pointes", "torsade de pointes" ], "alt_id": [], "def": "A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.", "synonym": [ [ "torsades de pointes", "torsades de pointes" ] ], "xref": [ "MSH:D016171", "SNOMEDCT_US:31722008", "UMLS:C0040479" ], "is_a": [ "HP:0004308" ], "is_obsolete": "", "replace_id": "" }, "HP:0001667": { "name": [ "right ventricular hypertrophy", "right ventricular hypertrophy" ], "alt_id": [], "def": "In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.", "synonym": [ [ "heart right ventricle hypertrophy", "heart right ventricle hypertrophy" ] ], "xref": [ "Fyler:3609", "MSH:D017380", "SNOMEDCT_US:89792004", "UMLS:C0162770" ], "is_a": [ "HP:0001707", "HP:0001714" ], "is_obsolete": "", "replace_id": "" }, "HP:0001669": { "name": [ "transposition of the great arteries", "transposition of the great artery" ], "alt_id": [], "def": "A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.", "synonym": [ [ "transposition of great vessels", "transposition of great vessel" ] ], "xref": [ "SNOMEDCT_US:204296002", "SNOMEDCT_US:26146002", "UMLS:C3536741" ], "is_a": [ "HP:0011563", "HP:0011603" ], "is_obsolete": "", "replace_id": "" }, "HP:0001670": { "name": [ "asymmetric septal hypertrophy", "asymmetric septal hypertrophy" ], "alt_id": [], "def": "Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.", "synonym": [], "xref": [ "UMLS:C0205700" ], "is_a": [ "HP:0001639" ], "is_obsolete": "", "replace_id": "" }, "HP:0001671": { "name": [ "abnormal cardiac septum morphology", "abnormal cardiac septum morphology" ], "alt_id": [ "HP:0001690", "HP:0004760" ], "def": "An anomaly of the intra-atrial or intraventricular septum.", "synonym": [ [ "abnormality of the cardiac septa", "abnormality of the cardiac septum" ], [ "heart septal defect", "heart septal defect" ], [ "septal defects", "septal defect" ] ], "xref": [ "MSH:D006343", "SNOMEDCT_US:253273004", "SNOMEDCT_US:396351009", "SNOMEDCT_US:59494005", "UMLS:C0018816" ], "is_a": [ "HP:0001627" ], "is_obsolete": "", "replace_id": "" }, "HP:0001673": { "name": [ "obsolete tachycardia ( with pheochromocytoma )", "obsolete tachycardia ( with pheochromocytoma )" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001649" }, "HP:0001674": { "name": [ "complete atrioventricular canal defect", "complete atrioventricular canal defect" ], "alt_id": [ "HP:0001689", "HP:0006697" ], "def": "A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.", "synonym": [ [ "atrioventricular canal", "atrioventricular canal" ], [ "common atrioventricular canal", "common atrioventricular canal" ], [ "complete atrioventricular septal defect", "complete atrioventricular septal defect" ], [ "complete common av canal", "complete common av canal" ] ], "xref": [ "Fyler:1120" ], "is_a": [ "HP:0006695" ], "is_obsolete": "", "replace_id": "" }, "HP:0001675": { "name": [ "obsolete rhythm disturbances associated with pheochromocytoma", "obsolete rhythm disturbance associate with pheochromocytoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0011675" }, "HP:0001676": { "name": [ "obsolete palpitations ( with pheochromocytoma )", "obsolete palpitation ( with pheochromocytoma )" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001962" }, "HP:0001677": { "name": [ "coronary artery atherosclerosis", "coronary artery atherosclerosis" ], "alt_id": [ "HP:0004929", "HP:0005138" ], "def": "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.", "synonym": [ [ "coronary atherosclerosis", "coronary atherosclerosis" ], [ "coronary disease", "coronary disease" ], [ "plaque build - up in arteries supplying blood to heart", "plaque build - up in artery supply blood to heart" ] ], "xref": [ "MSH:D003324", "SNOMEDCT_US:414024009", "SNOMEDCT_US:53741008", "UMLS:C1956346" ], "is_a": [ "HP:0002621", "HP:0006704", "HP:0100545" ], "is_obsolete": "", "replace_id": "" }, "HP:0001678": { "name": [ "atrioventricular block", "atrioventricular block" ], "alt_id": [ "HP:0001668", "HP:0005142", "HP:0006672" ], "def": "Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.", "synonym": [ [ "atrioventricular nodal disease", "atrioventricular nodal disease" ], [ "interruption of electrical communication between upper and lower chambers of heart", "interruption of electrical communication between upper and low chamber of heart" ] ], "xref": [ "MSH:D054537", "SNOMEDCT_US:233917008", "UMLS:C0004245", "UMLS:C1841659" ], "is_a": [ "HP:0005150", "HP:0012722" ], "is_obsolete": "", "replace_id": "" }, "HP:0001679": { "name": [ "abnormal aortic morphology", "abnormal aortic morphology" ], "alt_id": [ "HP:0030963" ], "def": "An abnormality of the aorta.", "synonym": [ [ "abnormal aorta morphology", "abnormal aorta morphology" ], [ "abnormality of the aorta", "abnormality of the aorta" ] ], "xref": [ "Fyler:1453", "UMLS:C4025756" ], "is_a": [ "HP:0011004", "HP:0030962" ], "is_obsolete": "", "replace_id": "" }, "HP:0001680": { "name": [ "coarctation of aorta", "coarctation of aorta" ], "alt_id": [], "def": "Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.", "synonym": [ [ "aortic coarctation", "aortic coarctation" ], [ "coarctation of the aorta", "coarctation of the aorta" ], [ "narrowing of aorta", "narrowing of aorta" ], [ "narrowing of the aorta", "narrowing of the aorta" ] ], "xref": [ "MSH:D001017", "SNOMEDCT_US:7305005", "UMLS:C0003492" ], "is_a": [ "HP:0001679" ], "is_obsolete": "", "replace_id": "" }, "HP:0001681": { "name": [ "angina pectoris", "angina pectoris" ], "alt_id": [], "def": "Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.", "synonym": [], "xref": [ "MSH:D000787", "SNOMEDCT_US:194828000", "SNOMEDCT_US:225566008", "UMLS:C0002962" ], "is_a": [ "HP:0011025" ], "is_obsolete": "", "replace_id": "" }, "HP:0001682": { "name": [ "subvalvular aortic stenosis", "subvalvular aortic stenosis" ], "alt_id": [], "def": "A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.", "synonym": [ [ "narrowing of blood vessel below aortic heart valve", "narrowing of blood vessel below aortic heart valve" ], [ "subaortic stenosis", "subaortic stenosis" ] ], "xref": [ "MSH:D001020", "SNOMEDCT_US:204368006", "UMLS:C0340375" ], "is_a": [ "HP:0011103" ], "is_obsolete": "", "replace_id": "" }, "HP:0001683": { "name": [ "ectopia cordis", "ectopia cordis" ], "alt_id": [], "def": "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall.", "synonym": [], "xref": [ "Fyler:0170", "Fyler:170", "MSH:D054083", "SNOMEDCT_US:78250005", "UMLS:C0013580" ], "is_a": [ "HP:0004307" ], "is_obsolete": "", "replace_id": "" }, "HP:0001684": { "name": [ "secundum atrial septal defect", "secundum atrial septal defect" ], "alt_id": [ "HP:0200131" ], "def": "A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.", "synonym": [ [ "atrial septal defect , ostium secundum type", "atrial septal defect , ostium secundum type" ], [ "ostium secundum atrial septal defect", "ostium secundum atrial septal defect" ], [ "patent ostium secundum", "patent ostium secundum" ] ], "xref": [ "Fyler:2000", "ICD-10:Q21.1", "MSH:D006344", "SNOMEDCT_US:204315000", "UMLS:C0344724" ], "is_a": [ "HP:0001631" ], "is_obsolete": "", "replace_id": "" }, "HP:0001685": { "name": [ "myocardial fibrosis", "myocardial fibrosis" ], "alt_id": [], "def": "Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.", "synonym": [], "xref": [ "UMLS:C0151654" ], "is_a": [ "HP:0001637" ], "is_obsolete": "", "replace_id": "" }, "HP:0001686": { "name": [ "loss of voice", "loss of voice" ], "alt_id": [], "def": "", "synonym": [ [ "aphonia", "aphonia" ] ], "xref": [ "MSH:D001044", "SNOMEDCT_US:441913003", "SNOMEDCT_US:44564008", "UMLS:C0003564" ], "is_a": [ "HP:0001608" ], "is_obsolete": "", "replace_id": "" }, "HP:0001688": { "name": [ "sinus bradycardia", "sinus bradycardia" ], "alt_id": [ "HP:0005137" ], "def": "Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.", "synonym": [], "xref": [ "Fyler:7013", "SNOMEDCT_US:49710005", "UMLS:C0085610" ], "is_a": [ "HP:0001662", "HP:0011702" ], "is_obsolete": "", "replace_id": "" }, "HP:0001691": { "name": [ "muscular subvalvular aortic stenosis", "muscular subvalvular aortic stenosis" ], "alt_id": [], "def": "A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.", "synonym": [ [ "muscular subaortic stenosis", "muscular subaortic stenosis" ] ], "xref": [ "UMLS:C3887554" ], "is_a": [ "HP:0001682" ], "is_obsolete": "", "replace_id": "" }, "HP:0001692": { "name": [ "atrial arrhythmia", "atrial arrhythmia" ], "alt_id": [], "def": "A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.", "synonym": [ [ "primary atrial arrhythmia", "primary atrial arrhythmia" ] ], "xref": [ "SNOMEDCT_US:17366009", "UMLS:C0085611", "UMLS:C4025755" ], "is_a": [ "HP:0005115" ], "is_obsolete": "", "replace_id": "" }, "HP:0001693": { "name": [ "cardiac shunt", "cardiac shunt" ], "alt_id": [], "def": "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.", "synonym": [], "xref": [ "SNOMEDCT_US:442119001", "UMLS:C0232180" ], "is_a": [ "HP:0011028" ], "is_obsolete": "", "replace_id": "" }, "HP:0001694": { "name": [ "right - to - left shunt", "right - to - left shunt" ], "alt_id": [], "def": "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.", "synonym": [], "xref": [ "SNOMEDCT_US:79692001", "UMLS:C0428871" ], "is_a": [ "HP:0001693" ], "is_obsolete": "", "replace_id": "" }, "HP:0001695": { "name": [ "cardiac arrest", "cardiac arrest" ], "alt_id": [], "def": "An abrupt loss of heart function.", "synonym": [ [ "heart stops beating", "heart stop beat" ] ], "xref": [ "MSH:D006323", "SNOMEDCT_US:397829000", "SNOMEDCT_US:410429000", "UMLS:C0018790" ], "is_a": [ "HP:0011675" ], "is_obsolete": "", "replace_id": "" }, "HP:0001696": { "name": [ "situs inversus totalis", "situs inversus totalis" ], "alt_id": [], "def": "A left-right reversal (or \\\"mirror reflection\\\") of the anatomical location of the major thoracic and abdominal organs.", "synonym": [ [ "all organs on wrong side of body", "all organ on wrong side of body" ], [ "situs inversus", "situs inversus" ], [ "situs oppositus", "situs oppositus" ], [ "situs transversus", "situs transversus" ] ], "xref": [ "Fyler:0100", "Fyler:100", "MSH:D012857", "MSH:D059446", "SNOMEDCT_US:14821001", "SNOMEDCT_US:24614000", "SNOMEDCT_US:27317008", "SNOMEDCT_US:43876007", "UMLS:C0037221", "UMLS:C0266642" ], "is_a": [ "HP:0001651", "HP:0011534" ], "is_obsolete": "", "replace_id": "" }, "HP:0001697": { "name": [ "abnormal pericardium morphology", "abnormal pericardium morphology" ], "alt_id": [], "def": "An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.", "synonym": [ [ "abnormality of the pericardium", "abnormality of the pericardium" ] ], "xref": [ "Fyler:1900", "UMLS:C4025754" ], "is_a": [ "HP:0001627" ], "is_obsolete": "", "replace_id": "" }, "HP:0001698": { "name": [ "pericardial effusion", "pericardial effusion" ], "alt_id": [], "def": "Accumulation of fluid within the pericardium.", "synonym": [ [ "fluid around heart", "fluid around heart" ], [ "pericardial effusions", "pericardial effusion" ] ], "xref": [ "Fyler:1940", "MSH:D010490", "SNOMEDCT_US:373945007", "UMLS:C0031039" ], "is_a": [ "HP:0001697" ], "is_obsolete": "", "replace_id": "" }, "HP:0001699": { "name": [ "sudden death", "sudden death" ], "alt_id": [], "def": "Rapid and unexpected death.", "synonym": [], "xref": [ "MSH:D003645", "SNOMEDCT_US:26636000", "UMLS:C0011071" ], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0001700": { "name": [ "myocardial necrosis", "myocardial necrosis" ], "alt_id": [], "def": "Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).", "synonym": [], "xref": [ "SNOMEDCT_US:251061000", "UMLS:C1442837" ], "is_a": [ "HP:0001637" ], "is_obsolete": "", "replace_id": "" }, "HP:0001701": { "name": [ "pericarditis", "pericarditis" ], "alt_id": [], "def": "Inflammation of the sac-like covering around the heart (pericardium).", "synonym": [ [ "swelling or irritation of membrane around heart", "swell or irritation of membrane around heart" ] ], "xref": [ "MSH:D010493", "SNOMEDCT_US:3238004", "UMLS:C0031046" ], "is_a": [ "HP:0001697", "HP:0045073" ], "is_obsolete": "", "replace_id": "" }, "HP:0001702": { "name": [ "abnormal tricuspid valve morphology", "abnormal tricuspid valve morphology" ], "alt_id": [ "HP:0031440" ], "def": "Any structural anomaly of the tricuspid valve.", "synonym": [ [ "abnormality of the tricuspid valve", "abnormality of the tricuspid valve" ] ], "xref": [ "EPCC:06.01.00", "UMLS:C4025753" ], "is_a": [ "HP:0006705" ], "is_obsolete": "", "replace_id": "" }, "HP:0001704": { "name": [ "tricuspid valve prolapse", "tricuspid valve prolapse" ], "alt_id": [], "def": "One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.", "synonym": [], "xref": [ "Fyler:1733", "MSH:D014263", "SNOMEDCT_US:253383003", "UMLS:C0040962" ], "is_a": [ "HP:0001702" ], "is_obsolete": "", "replace_id": "" }, "HP:0001705": { "name": [ "right ventricular outlet tract obstruction", "right ventricular outlet tract obstruction" ], "alt_id": [], "def": "An obstruction to the forward flow of blood in the outflow tract of the right ventricle.", "synonym": [ [ "right ventricular outlet obstruction", "right ventricular outlet obstruction" ] ], "xref": [ "MSH:D014694", "UMLS:C0035619" ], "is_a": [ "HP:0033118" ], "is_obsolete": "", "replace_id": "" }, "HP:0001706": { "name": [ "endocardial fibroelastosis", "endocardial fibroelastosis" ], "alt_id": [], "def": "Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction", "synonym": [], "xref": [ "MSH:D004695", "SNOMEDCT_US:65457005", "UMLS:C0014117" ], "is_a": [ "HP:0004306" ], "is_obsolete": "", "replace_id": "" }, "HP:0001707": { "name": [ "abnormal right ventricle morphology", "abnormal right ventricle morphology" ], "alt_id": [], "def": "An abnormality of the right ventricle of the heart.", "synonym": [ [ "abnormality of the right ventricle", "abnormality of the right ventricle" ], [ "right ventricular abnormality", "right ventricular abnormality" ] ], "xref": [ "Fyler:1820", "SNOMEDCT_US:253516002", "UMLS:C0344887" ], "is_a": [ "HP:0001713" ], "is_obsolete": "", "replace_id": "" }, "HP:0001708": { "name": [ "right ventricular failure", "right ventricular failure" ], "alt_id": [], "def": "Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.", "synonym": [ [ "impaired right ventricular function", "impaired right ventricular function" ], [ "right ventricular impairment", "right ventricular impairment" ], [ "right - sided heart failure", "right - side heart failure" ] ], "xref": [ "MSH:D006333", "SNOMEDCT_US:128404006", "SNOMEDCT_US:367363000", "UMLS:C0235527", "UMLS:C2939447" ], "is_a": [ "HP:0033118" ], "is_obsolete": "", "replace_id": "" }, "HP:0001709": { "name": [ "third degree atrioventricular block", "third degree atrioventricular block" ], "alt_id": [], "def": "Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.", "synonym": [ [ "complete heart block", "complete heart block" ], [ "third - degree heart block", "third - degree heart block" ] ], "xref": [ "SNOMEDCT_US:27885002", "UMLS:C0151517" ], "is_a": [ "HP:0001678" ], "is_obsolete": "", "replace_id": "" }, "HP:0001710": { "name": [ "conotruncal defect", "conotruncal defect" ], "alt_id": [], "def": "A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.", "synonym": [ [ "conotruncal heart defects", "conotruncal heart defect" ] ], "xref": [ "UMLS:C1853238" ], "is_a": [ "HP:0011563", "HP:0011603" ], "is_obsolete": "", "replace_id": "" }, "HP:0001711": { "name": [ "abnormal left ventricle morphology", "abnormal leave ventricle morphology" ], "alt_id": [], "def": "Any structural abnormality of the left ventricle of the heart.", "synonym": [ [ "abnormal heart left ventricle morphology", "abnormal heart leave ventricle morphology" ], [ "abnormality of the left ventricle", "abnormality of the left ventricle" ], [ "left ventricular abnormality", "leave ventricular abnormality" ] ], "xref": [ "Fyler:1810", "SNOMEDCT_US:253535002", "UMLS:C0344905" ], "is_a": [ "HP:0001713" ], "is_obsolete": "", "replace_id": "" }, "HP:0001712": { "name": [ "left ventricular hypertrophy", "leave ventricular hypertrophy" ], "alt_id": [ "HP:0005171" ], "def": "Enlargement or increased size of the heart left ventricle.", "synonym": [ [ "heart left ventricle hypertrophy", "heart leave ventricle hypertrophy" ], [ "left ventricular wall hypertrophy", "leave ventricular wall hypertrophy" ] ], "xref": [ "Fyler:3608", "MSH:D017379", "SNOMEDCT_US:55827005", "UMLS:C0149721" ], "is_a": [ "HP:0001711", "HP:0001714" ], "is_obsolete": "", "replace_id": "" }, "HP:0001713": { "name": [ "abnormal cardiac ventricle morphology", "abnormal cardiac ventricle morphology" ], "alt_id": [], "def": "An abnormality of a cardiac ventricle.", "synonym": [ [ "abnormality of cardiac ventricle", "abnormality of cardiac ventricle" ] ], "xref": [ "UMLS:C4025752" ], "is_a": [ "HP:0001627" ], "is_obsolete": "", "replace_id": "" }, "HP:0001714": { "name": [ "ventricular hypertrophy", "ventricular hypertrophy" ], "alt_id": [ "HP:0005167" ], "def": "Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.", "synonym": [], "xref": [ "SNOMEDCT_US:266249003", "UMLS:C0340279" ], "is_a": [ "HP:0001713" ], "is_obsolete": "", "replace_id": "" }, "HP:0001716": { "name": [ "wolff - parkinson - white syndrome", "wolff - parkinson - white syndrome" ], "alt_id": [], "def": "A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway.", "synonym": [], "xref": [ "MSH:D014927", "SNOMEDCT_US:74390002", "UMLS:C0043202" ], "is_a": [ "HP:0004309" ], "is_obsolete": "", "replace_id": "" }, "HP:0001717": { "name": [ "coronary artery calcification", "coronary artery calcification" ], "alt_id": [], "def": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.", "synonym": [], "xref": [ "SNOMEDCT_US:445512009", "UMLS:C1611184" ], "is_a": [ "HP:0003207", "HP:0006704" ], "is_obsolete": "", "replace_id": "" }, "HP:0001718": { "name": [ "mitral stenosis", "mitral stenosis" ], "alt_id": [ "HP:0005163" ], "def": "An abnormal narrowing of the orifice of the mitral valve.", "synonym": [ [ "mitral valve stenosis", "mitral valve stenosis" ] ], "xref": [ "EPCC:06.02.92", "Fyler:1511", "ICD-10:Q23.2", "MSH:D008946", "SNOMEDCT_US:79619009", "UMLS:C0026269" ], "is_a": [ "HP:0031481" ], "is_obsolete": "", "replace_id": "" }, "HP:0001719": { "name": [ "double outlet right ventricle", "double outlet right ventricle" ], "alt_id": [], "def": "Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.", "synonym": [ [ "double - outlet right ventricle", "double - outlet right ventricle" ] ], "xref": [ "Fyler:600", "Fyler:606", "MSH:D004310", "SNOMEDCT_US:7484005", "UMLS:C0013069" ], "is_a": [ "HP:0001710", "HP:0011723" ], "is_obsolete": "", "replace_id": "" }, "HP:0001722": { "name": [ "high - output congestive heart failure", "high - output congestive heart failure" ], "alt_id": [], "def": "A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.", "synonym": [], "xref": [ "UMLS:C0742747" ], "is_a": [ "HP:0001635" ], "is_obsolete": "", "replace_id": "" }, "HP:0001723": { "name": [ "restrictive cardiomyopathy", "restrictive cardiomyopathy" ], "alt_id": [ "HP:0005130" ], "def": "Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.", "synonym": [], "xref": [ "MSH:D002313", "SNOMEDCT_US:415295002", "SNOMEDCT_US:90828009", "UMLS:C0007196" ], "is_a": [ "HP:0001638" ], "is_obsolete": "", "replace_id": "" }, "HP:0001724": { "name": [ "obsolete aortic dilatation", "obsolete aortic dilatation" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0004942" }, "HP:0001726": { "name": [ "obsolete increased prevalence of valvular disease", "obsolete increase prevalence of valvular disease" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0001727": { "name": [ "thromboembolic stroke", "thromboembolic stroke" ], "alt_id": [], "def": "A cerebrovascular accident (stroke) that occurs because of thromboembolism.", "synonym": [], "xref": [ "UMLS:C1112433" ], "is_a": [ "HP:0001907" ], "is_obsolete": "", "replace_id": "" }, "HP:0001730": { "name": [ "progressive hearing impairment", "progressive hearing impairment" ], "alt_id": [ "HP:0008590" ], "def": "A progressive form of hearing impairment.", "synonym": [ [ "progressive hearing loss", "progressive hearing loss" ] ], "xref": [ "UMLS:C1842138" ], "is_a": [ "HP:0000365" ], "is_obsolete": "", "replace_id": "" }, "HP:0001732": { "name": [ "abnormality of the pancreas", "abnormality of the pancreas" ], "alt_id": [], "def": "An abnormality of the pancreas.", "synonym": [ [ "abnormality of the pancreas", "abnormality of the pancreas" ], [ "pancreatic disease", "pancreatic disease" ] ], "xref": [ "MSH:D010182", "SNOMEDCT_US:3855007", "UMLS:C0030286", "UMLS:C4025751" ], "is_a": [ "HP:0002012" ], "is_obsolete": "", "replace_id": "" }, "HP:0001733": { "name": [ "pancreatitis", "pancreatitis" ], "alt_id": [], "def": "The presence of inflammation in the pancreas.", "synonym": [ [ "pancreatic inflammation", "pancreatic inflammation" ] ], "xref": [ "MSH:D010195", "SNOMEDCT_US:75694006", "UMLS:C0030305" ], "is_a": [ "HP:0012091", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0001734": { "name": [ "annular pancreas", "annular pancreas" ], "alt_id": [], "def": "A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.", "synonym": [], "xref": [ "MSH:C536376", "SNOMEDCT_US:40315008", "UMLS:C0149955" ], "is_a": [ "HP:0012090" ], "is_obsolete": "", "replace_id": "" }, "HP:0001735": { "name": [ "acute pancreatitis", "acute pancreatitis" ], "alt_id": [ "HP:0004512" ], "def": "A acute form of pancreatitis.", "synonym": [ [ "acute pancreatic inflammation", "acute pancreatic inflammation" ], [ "pancreatitis , acute", "pancreatitis , acute" ] ], "xref": [ "SNOMEDCT_US:197456007", "UMLS:C0001339" ], "is_a": [ "HP:0001733" ], "is_obsolete": "", "replace_id": "" }, "HP:0001737": { "name": [ "pancreatic cysts", "pancreatic cyst" ], "alt_id": [], "def": "A cyst of the pancreas that possess a lining of mucous epithelium.", "synonym": [ [ "multiple pancreatic cysts", "multiple pancreatic cyst" ], [ "pancreatic cyst", "pancreatic cyst" ], [ "pancreatic cysts", "pancreatic cyst" ] ], "xref": [ "MSH:D010181", "SNOMEDCT_US:31258000", "UMLS:C0030283", "UMLS:C1860394" ], "is_a": [ "HP:0012090" ], "is_obsolete": "", "replace_id": "" }, "HP:0001738": { "name": [ "exocrine pancreatic insufficiency", "exocrine pancreatic insufficiency" ], "alt_id": [ "HP:0002581", "HP:0004508", "HP:0004509" ], "def": "Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.", "synonym": [ [ "inability to properly digest food due to lack of pancreatic digestive enzymes", "inability to properly digest food due to lack of pancreatic digestive enzyme" ], [ "pancreatic insufficiency", "pancreatic insufficiency" ] ], "xref": [ "MSH:D010188", "SNOMEDCT_US:37992001", "SNOMEDCT_US:47367009", "UMLS:C0030293", "UMLS:C0267963" ], "is_a": [ "HP:0012092" ], "is_obsolete": "", "replace_id": "" }, "HP:0001739": { "name": [ "abnormal nasopharynx morphology", "abnormal nasopharynx morphology" ], "alt_id": [], "def": "A structural anomaly of the nasopharynx.", "synonym": [ [ "abnormality of the nasopharynx", "abnormality of the nasopharynx" ] ], "xref": [ "UMLS:C4025750" ], "is_a": [ "HP:0000366", "HP:0033151" ], "is_obsolete": "", "replace_id": "" }, "HP:0001741": { "name": [ "phimosis", "phimosis" ], "alt_id": [], "def": "The male foreskin cannot be fully retracted from the head of the penis.", "synonym": [], "xref": [ "SNOMEDCT_US:253854008", "UMLS:C0345326" ], "is_a": [ "HP:0100587" ], "is_obsolete": "", "replace_id": "" }, "HP:0001742": { "name": [ "nasal congestion", "nasal congestion" ], "alt_id": [], "def": "Reduced ability to pass air through the nasal cavity often leading to mouth breathing.", "synonym": [ [ "blockage of nose", "blockage of nose" ], [ "congestion of nose", "congestion of nose" ], [ "nasal blockage", "nasal blockage" ], [ "nasal obstruction", "nasal obstruction" ], [ "obstruction of nose", "obstruction of nose" ], [ "stuffy nose", "stuffy nose" ] ], "xref": [ "MSH:D015508", "SNOMEDCT_US:232209000", "SNOMEDCT_US:267100006", "SNOMEDCT_US:68235000", "UMLS:C0027424", "UMLS:C0027429" ], "is_a": [ "HP:0000366" ], "is_obsolete": "", "replace_id": "" }, "HP:0001743": { "name": [ "abnormality of the spleen", "abnormality of the spleen" ], "alt_id": [], "def": "An abnormality of the spleen.", "synonym": [ [ "abnormality of the spleen", "abnormality of the spleen" ] ], "xref": [ "UMLS:C4025749" ], "is_a": [ "HP:0002012", "HP:0100763" ], "is_obsolete": "", "replace_id": "" }, "HP:0001744": { "name": [ "splenomegaly", "splenomegaly" ], "alt_id": [ "HP:0001745", "HP:0006269" ], "def": "Abnormal increased size of the spleen.", "synonym": [ [ "increased spleen size", "increase spleen size" ] ], "xref": [ "MSH:D013163", "SNOMEDCT_US:16294009", "UMLS:C0038002" ], "is_a": [ "HP:0003271", "HP:0025408" ], "is_obsolete": "", "replace_id": "" }, "HP:0001746": { "name": [ "asplenia", "asplenia" ], "alt_id": [], "def": "Absence (aplasia) of the spleen.", "synonym": [ [ "absent spleen", "absent spleen" ] ], "xref": [ "Fyler:4771", "SNOMEDCT_US:702624008", "SNOMEDCT_US:707147002", "SNOMEDCT_US:93030006", "UMLS:C0600031" ], "is_a": [ "HP:0010451" ], "is_obsolete": "", "replace_id": "" }, "HP:0001747": { "name": [ "accessory spleen", "accessory spleen" ], "alt_id": [], "def": "An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.", "synonym": [], "xref": [ "Fyler:4772", "SNOMEDCT_US:10362008", "UMLS:C0266631" ], "is_a": [ "HP:0009799" ], "is_obsolete": "", "replace_id": "" }, "HP:0001748": { "name": [ "polysplenia", "polysplenia" ], "alt_id": [ "HP:0001749", "HP:0006271", "HP:0006272" ], "def": "Polysplenia is a congenital disease manifested by multiple small accessory spleens.", "synonym": [ [ "accessory spleens", "accessory spleen" ], [ "multiple accessory spleens", "multiple accessory spleen" ], [ "multiple small spleens", "multiple small spleen" ] ], "xref": [ "UMLS:C1856659" ], "is_a": [ "HP:0009799" ], "is_obsolete": "", "replace_id": "" }, "HP:0001750": { "name": [ "single ventricle", "single ventricle" ], "alt_id": [], "def": "The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.", "synonym": [ [ "common ventricle", "common ventricle" ] ], "xref": [ "Fyler:0200", "Fyler:200", "SNOMEDCT_US:45503006", "UMLS:C0152424" ], "is_a": [ "HP:0001713" ], "is_obsolete": "", "replace_id": "" }, "HP:0001751": { "name": [ "vestibular dysfunction", "vestibular dysfunction" ], "alt_id": [ "HP:0006917", "HP:0007921" ], "def": "An abnormality of the functioning of the vestibular apparatus.", "synonym": [ [ "impaired vestibular function", "impaired vestibular function" ], [ "interictal vestibular dysfunction", "interictal vestibular dysfunction" ], [ "vestibular function defect", "vestibular function defect" ] ], "xref": [ "UMLS:C1843865" ], "is_a": [ "HP:0011389" ], "is_obsolete": "", "replace_id": "" }, "HP:0001756": { "name": [ "vestibular hypofunction", "vestibular hypofunction" ], "alt_id": [], "def": "Reduced functioning of the vestibular apparatus.", "synonym": [], "xref": [ "UMLS:C1848606" ], "is_a": [ "HP:0001751" ], "is_obsolete": "", "replace_id": "" }, "HP:0001757": { "name": [ "high - frequency sensorineural hearing impairment", "high - frequency sensorineural hearing impairment" ], "alt_id": [], "def": "A form of sensorineural hearing impairment that affects primarily the higher frequencies.", "synonym": [ [ "high frequency sensorineural hearing impairment", "high frequency sensorineural hearing impairment" ], [ "high - tone sensorineural deafness", "high - tone sensorineural deafness" ], [ "high - tone sensorineural hearing impairment", "high - tone sensorineural hearing impairment" ] ], "xref": [ "UMLS:C4021775" ], "is_a": [ "HP:0000407" ], "is_obsolete": "", "replace_id": "" }, "HP:0001760": { "name": [ "abnormal foot morphology", "abnormal foot morphology" ], "alt_id": [ "HP:0010216", "HP:0010611" ], "def": "An abnormality of the skeleton of foot.", "synonym": [ [ "abnormal feet structure", "abnormal foot structure" ], [ "abnormality of the feet", "abnormality of the foot" ], [ "abnormality of the foot", "abnormality of the foot" ], [ "foot deformities", "foot deformity" ], [ "foot deformity", "foot deformity" ] ], "xref": [ "MSH:D005530", "SNOMEDCT_US:229844004", "UMLS:C0016506" ], "is_a": [ "HP:0002814" ], "is_obsolete": "", "replace_id": "" }, "HP:0001761": { "name": [ "pes cavus", "pe cavus" ], "alt_id": [], "def": "The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.", "synonym": [ [ "high - arched foot", "high - arched foot" ] ], "xref": [ "MEDDRA:10034743 \"Pes cavus\"", "SNOMEDCT_US:205091006", "UMLS:C0728829" ], "is_a": [ "HP:0001760" ], "is_obsolete": "", "replace_id": "" }, "HP:0001762": { "name": [ "talipes equinovarus", "talipes equinovarus" ], "alt_id": [], "def": "Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.", "synonym": [ [ "club feet", "club foot" ], [ "club foot", "club foot" ], [ "clubbing of feet", "clubbing of foot" ], [ "clubfeet", "clubfeet" ], [ "clubfoot", "clubfoot" ], [ "equinovarus", "equinovarus" ], [ "foot , talipes equinovarus", "foot , talipes equinovarus" ], [ "pes equinovarus", "pe equinovarus" ], [ "pes equinus", "pe equinus" ], [ "talipes varus", "talipes varus" ] ], "xref": [ "Fyler:4171", "MEDDRA:10043106 \"Talipes equinovarus, congenital\"", "MSH:D003025", "SNOMEDCT_US:249808002", "SNOMEDCT_US:397932003", "UMLS:C0009081" ], "is_a": [ "HP:0001883" ], "is_obsolete": "", "replace_id": "" }, "HP:0001763": { "name": [ "pes planus", "pe planus" ], "alt_id": [], "def": "A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.", "synonym": [ [ "dropped arches", "drop arch" ], [ "fallen arches", "fall arch" ], [ "flat feet", "flat foot" ], [ "flat foot", "flat foot" ] ], "xref": [ "MSH:D005413", "SNOMEDCT_US:203534009", "SNOMEDCT_US:53226007", "UMLS:C0016202", "UMLS:C0264133" ], "is_a": [ "HP:0001760" ], "is_obsolete": "", "replace_id": "" }, "HP:0001765": { "name": [ "hammertoe", "hammertoe" ], "alt_id": [], "def": "Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.", "synonym": [ [ "hammer toe", "hammer toe" ], [ "hammertoe", "hammertoe" ], [ "hammertoes", "hammertoe" ] ], "xref": [ "MSH:D037801", "SNOMEDCT_US:122481008", "UMLS:C1136179" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0001769": { "name": [ "broad foot", "broad foot" ], "alt_id": [], "def": "A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.", "synonym": [ [ "broad feet", "broad foot" ], [ "broad foot", "broad foot" ], [ "wide foot", "wide foot" ] ], "xref": [ "UMLS:C1866241" ], "is_a": [ "HP:0001760" ], "is_obsolete": "", "replace_id": "" }, "HP:0001770": { "name": [ "toe syndactyly", "toe syndactyly" ], "alt_id": [ "HP:0001828", "HP:0005677" ], "def": "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\", "synonym": [ [ "foot syndactyly", "foot syndactyly" ], [ "fused toes", "fuse toe" ], [ "syndactyly of feet", "syndactyly of foot" ], [ "syndactyly of toes", "syndactyly of toe" ], [ "webbed toes", "webbed toe" ] ], "xref": [ "SNOMEDCT_US:32113001", "UMLS:C0265660" ], "is_a": [ "HP:0001159", "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0001771": { "name": [ "achilles tendon contracture", "achilles tendon contracture" ], "alt_id": [ "HP:0004711", "HP:0005031", "HP:0006430" ], "def": "A contracture of the Achilles tendon.", "synonym": [ [ "achilles tendon contractures", "achilles tendon contracture" ], [ "contractures of the achilles tendon", "contracture of the achilles tendon" ], [ "shortening of the achilles tendon", "shortening of the achilles tendon" ], [ "tight achilles tendon", "tight achilles tendon" ] ], "xref": [ "SNOMEDCT_US:203076007", "UMLS:C0410264" ], "is_a": [ "HP:0005109", "HP:0008366" ], "is_obsolete": "", "replace_id": "" }, "HP:0001772": { "name": [ "talipes equinovalgus", "talipes equinovalgus" ], "alt_id": [], "def": "A deformity of foot and ankle in which the foot is bent down and outwards.", "synonym": [ [ "equinovalgus deformity", "equinovalgus deformity" ] ], "xref": [ "MSH:D004863", "SNOMEDCT_US:68284008", "UMLS:C0265642", "UMLS:C4020866" ], "is_a": [ "HP:0001883" ], "is_obsolete": "", "replace_id": "" }, "HP:0001773": { "name": [ "short foot", "short foot" ], "alt_id": [ "HP:0001764", "HP:0001766", "HP:0001778", "HP:0008135" ], "def": "A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).", "synonym": [ [ "hypoplastic feet", "hypoplastic foot" ], [ "short feet", "short foot" ], [ "short foot", "short foot" ], [ "small feet", "small foot" ] ], "xref": [ "UMLS:C1848673" ], "is_a": [ "HP:0006494" ], "is_obsolete": "", "replace_id": "" }, "HP:0001775": { "name": [ "tarsal osteovalgus", "tarsal osteovalgus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025748" ], "is_a": [ "HP:0008365" ], "is_obsolete": "", "replace_id": "" }, "HP:0001776": { "name": [ "bilateral talipes equinovarus", "bilateral talipes equinovarus" ], "alt_id": [], "def": "Bilateral clubfoot deformity (see HP:0001762).", "synonym": [ [ "bilateral clubfeet", "bilateral clubfeet" ], [ "bilateral clubfoot", "bilateral clubfoot" ], [ "club foot on both sides", "club foot on both side" ] ], "xref": [ "UMLS:C1837835" ], "is_a": [ "HP:0001762" ], "is_obsolete": "", "replace_id": "" }, "HP:0001780": { "name": [ "abnormality of toe", "abnormality of toe" ], "alt_id": [], "def": "An anomaly of a toe.", "synonym": [ [ "abnormalities of the toes", "abnormality of the toe" ], [ "abnormality of toe", "abnormality of toe" ] ], "xref": [ "UMLS:C2674738" ], "is_a": [ "HP:0001760", "HP:0011297" ], "is_obsolete": "", "replace_id": "" }, "HP:0001782": { "name": [ "bulbous tips of toes", "bulbous tip of toe" ], "alt_id": [], "def": "An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.", "synonym": [], "xref": [ "UMLS:C4025747" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0001783": { "name": [ "broad metatarsal", "broad metatarsal" ], "alt_id": [ "HP:0005907", "HP:0008106" ], "def": "Increased side-to-side width of a metatarsal bone.", "synonym": [ [ "broad metatarsals", "broad metatarsal" ], [ "wide long bone of foot", "wide long bone of foot" ], [ "widened metatarsal shaft", "widen metatarsal shaft" ] ], "xref": [ "UMLS:C1842231", "UMLS:C1850161" ], "is_a": [ "HP:0001832" ], "is_obsolete": "", "replace_id": "" }, "HP:0001785": { "name": [ "ankle swelling", "ankle swell" ], "alt_id": [], "def": "", "synonym": [ [ "ankle swelling", "ankle swell" ] ], "xref": [ "SNOMEDCT_US:26237000", "SNOMEDCT_US:267039000", "UMLS:C0235439" ], "is_a": [ "HP:0003028" ], "is_obsolete": "", "replace_id": "" }, "HP:0001786": { "name": [ "narrow foot", "narrow foot" ], "alt_id": [], "def": "A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.", "synonym": [ [ "narrow foot", "narrow foot" ], [ "slender feet", "slender foot" ] ], "xref": [ "SNOMEDCT_US:299464006", "UMLS:C0576227" ], "is_a": [ "HP:0001760" ], "is_obsolete": "", "replace_id": "" }, "HP:0001787": { "name": [ "abnormal delivery", "abnormal delivery" ], "alt_id": [], "def": "An abnormality of the birth process.", "synonym": [ [ "abnormal delivery", "abnormal delivery" ], [ "delivery complication", "delivery complication" ] ], "xref": [ "SNOMEDCT_US:274127000", "UMLS:C0549629" ], "is_a": [ "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0001788": { "name": [ "premature rupture of membranes", "premature rupture of membrane" ], "alt_id": [ "HP:0002163" ], "def": "Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.", "synonym": [], "xref": [ "MSH:D005322", "SNOMEDCT_US:237266003", "SNOMEDCT_US:44223004", "UMLS:C0015944" ], "is_a": [ "HP:0001787" ], "is_obsolete": "", "replace_id": "" }, "HP:0001789": { "name": [ "hydrops fetalis", "hydrops fetalis" ], "alt_id": [], "def": "The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.", "synonym": [], "xref": [ "MSH:D015160", "SNOMEDCT_US:276508000", "UMLS:C0020305" ], "is_a": [ "HP:0000969", "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0001790": { "name": [ "nonimmune hydrops fetalis", "nonimmune hydrops fetalis" ], "alt_id": [], "def": "A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .", "synonym": [ [ "hydrops fetalis , non - immune", "hydrops fetalis , non - immune" ], [ "hydrops fetalis , nonimmune", "hydrops fetalis , nonimmune" ], [ "non - immune fetal hydrops", "non - immune fetal hydrops" ], [ "non - immune foetal hydrops", "non - immune foetal hydrops" ], [ "nonimmune hydrops", "nonimmune hydrops" ] ], "xref": [ "MSH:D015160", "SNOMEDCT_US:206538000", "SNOMEDCT_US:276509008", "UMLS:C0455988" ], "is_a": [ "HP:0001789" ], "is_obsolete": "", "replace_id": "" }, "HP:0001791": { "name": [ "fetal ascites", "fetal ascites" ], "alt_id": [], "def": "Accumulation of fluid in the peritoneal cavity during the fetal period.", "synonym": [ [ "foetal ascites", "foetal ascites" ] ], "xref": [ "SNOMEDCT_US:363125002", "UMLS:C1285291" ], "is_a": [ "HP:0001197", "HP:0001541" ], "is_obsolete": "", "replace_id": "" }, "HP:0001792": { "name": [ "small nail", "small nail" ], "alt_id": [ "HP:0001813" ], "def": "A nail that is diminished in length and width, i.e., underdeveloped nail.", "synonym": [ [ "hypoplastic nail", "hypoplastic nail" ], [ "hypoplastic nails", "hypoplastic nail" ], [ "nail hypoplasia", "nail hypoplasia" ], [ "small nail", "small nail" ], [ "small nails", "small nail" ] ], "xref": [ "SNOMEDCT_US:11375002", "UMLS:C0263523" ], "is_a": [ "HP:0008386" ], "is_obsolete": "", "replace_id": "" }, "HP:0001795": { "name": [ "hyperconvex nail", "hyperconvex nail" ], "alt_id": [ "HP:0008413" ], "def": "When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.", "synonym": [ [ "increased nail curvature", "increase nail curvature" ], [ "nail overcurvature", "nail overcurvature" ] ], "xref": [ "SNOMEDCT_US:247487009", "UMLS:C0423807" ], "is_a": [ "HP:0002164" ], "is_obsolete": "", "replace_id": "" }, "HP:0001798": { "name": [ "anonychia", "anonychia" ], "alt_id": [ "HP:0007593", "HP:0008384" ], "def": "Aplasia of the nail.", "synonym": [ [ "absent nails", "absent nail" ], [ "aplastic nails", "aplastic nail" ] ], "xref": [ "MSH:C536377", "SNOMEDCT_US:23610003", "UMLS:C0265998" ], "is_a": [ "HP:0008386" ], "is_obsolete": "", "replace_id": "" }, "HP:0001799": { "name": [ "short nail", "short nail" ], "alt_id": [ "HP:0200075" ], "def": "Decreased length of nail.", "synonym": [ [ "short nail", "short nail" ], [ "short nails", "short nail" ] ], "xref": [ "SNOMEDCT_US:247488004", "UMLS:C0423808" ], "is_a": [ "HP:0008386" ], "is_obsolete": "", "replace_id": "" }, "HP:0001800": { "name": [ "hypoplastic toenails", "hypoplastic toenail" ], "alt_id": [], "def": "Underdevelopment of the toenail.", "synonym": [ [ "underdeveloped toenails", "underdeveloped toenail" ] ], "xref": [ "UMLS:C1837279" ], "is_a": [ "HP:0001792", "HP:0010624" ], "is_obsolete": "", "replace_id": "" }, "HP:0001802": { "name": [ "absent toenail", "absent toenail" ], "alt_id": [], "def": "Congenital absence of the toenail.", "synonym": [ [ "absent toenail", "absent toenail" ], [ "absent toenails", "absent toenail" ], [ "absent toenails ( anonychia )", "absent toenail ( anonychia )" ], [ "anonychia of toenails", "anonychia of toenail" ] ], "xref": [ "UMLS:C1844555" ], "is_a": [ "HP:0001798", "HP:0010624" ], "is_obsolete": "", "replace_id": "" }, "HP:0001803": { "name": [ "nail pits", "nail pit" ], "alt_id": [], "def": "Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.", "synonym": [ [ "nail pits", "nail pit" ], [ "nail pitting", "nail pitting" ], [ "pitted nails", "pit nail" ] ], "xref": [ "MEDDRA:10028702 \"Nail pitting\"", "SNOMEDCT_US:89704006", "UMLS:C0150993" ], "is_a": [ "HP:0002164" ], "is_obsolete": "", "replace_id": "" }, "HP:0001804": { "name": [ "hypoplastic fingernail", "hypoplastic fingernail" ], "alt_id": [], "def": "Underdevelopment of a fingernail.", "synonym": [ [ "small fingernail", "small fingernail" ], [ "underdeveloped fingernail", "underdeveloped fingernail" ] ], "xref": [ "UMLS:C1856786" ], "is_a": [ "HP:0001231", "HP:0001792" ], "is_obsolete": "", "replace_id": "" }, "HP:0001805": { "name": [ "onychogryposis", "onychogryposis" ], "alt_id": [ "HP:0001819", "HP:0200088" ], "def": "Nail that appears thick when viewed on end.", "synonym": [ [ "dystrophic thickened nails", "dystrophic thicken nail" ], [ "thick nail", "thick nail" ], [ "thickened nails", "thicken nail" ] ], "xref": [ "SNOMEDCT_US:52897009", "UMLS:C0263537" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0001806": { "name": [ "onycholysis", "onycholysis" ], "alt_id": [], "def": "Detachment of the nail from the nail bed.", "synonym": [ [ "detachment of nail", "detachment of nail" ], [ "oncholysis", "oncholysis" ] ], "xref": [ "MEDDRA:10030337 \"Onycholysis\"", "MSH:D054039", "SNOMEDCT_US:75789001", "UMLS:C0085661" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0001807": { "name": [ "ridged nail", "ridge nail" ], "alt_id": [ "HP:0001801", "HP:0001811" ], "def": "Longitudinal, linear prominences in the nail plate.", "synonym": [ [ "grooved nails", "groove nail" ], [ "longitudinal ridging", "longitudinal ridging" ], [ "nail ridging", "nail ridging" ], [ "ridged nails", "ridge nail" ] ], "xref": [ "SNOMEDCT_US:271768001", "UMLS:C0423820" ], "is_a": [ "HP:0002164" ], "is_obsolete": "", "replace_id": "" }, "HP:0001808": { "name": [ "fragile nails", "fragile nail" ], "alt_id": [ "HP:0001796" ], "def": "Nails that easily break.", "synonym": [ [ "brittle nails", "brittle nail" ] ], "xref": [ "UMLS:C1856963" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0001809": { "name": [ "split nail", "split nail" ], "alt_id": [], "def": "A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.", "synonym": [ [ "longitudinal splitting of nail", "longitudinal splitting of nail" ] ], "xref": [ "SNOMEDCT_US:85136002", "UMLS:C0263530" ], "is_a": [ "HP:0002164" ], "is_obsolete": "", "replace_id": "" }, "HP:0001810": { "name": [ "dystrophic toenail", "dystrophic toenail" ], "alt_id": [ "HP:0007558" ], "def": "Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.", "synonym": [ [ "dystrophic toenail changes", "dystrophic toenail change" ], [ "dystrophic toenails", "dystrophic toenail" ], [ "poor toenail formation", "poor toenail formation" ] ], "xref": [ "UMLS:C1833225" ], "is_a": [ "HP:0008388", "HP:0008404" ], "is_obsolete": "", "replace_id": "" }, "HP:0001812": { "name": [ "hyperconvex fingernails", "hyperconvex fingernail" ], "alt_id": [ "HP:0008380" ], "def": "When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity.", "synonym": [ [ "tubular fingernails", "tubular fingernail" ] ], "xref": [ "UMLS:C1844825" ], "is_a": [ "HP:0001795" ], "is_obsolete": "", "replace_id": "" }, "HP:0001814": { "name": [ "deep - set nails", "deep - set nail" ], "alt_id": [], "def": "Deeply placed nails.", "synonym": [ [ "deep - set nails", "deep - set nail" ] ], "xref": [ "UMLS:C3277753" ], "is_a": [ "HP:0002164" ], "is_obsolete": "", "replace_id": "" }, "HP:0001816": { "name": [ "thin nail", "thin nail" ], "alt_id": [], "def": "Nail that appears thin when viewed on end.", "synonym": [ [ "thin nail", "thin nail" ], [ "thin nails", "thin nail" ] ], "xref": [ "SNOMEDCT_US:63829008", "UMLS:C0423823" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0001817": { "name": [ "absent fingernail", "absent fingernail" ], "alt_id": [], "def": "Absence of a fingernail.", "synonym": [ [ "absent fingernail", "absent fingernail" ], [ "anonychia of fingernails", "anonychia of fingernail" ], [ "aplasia of the fingernail", "aplasia of the fingernail" ] ], "xref": [ "UMLS:C1844554" ], "is_a": [ "HP:0001798" ], "is_obsolete": "", "replace_id": "" }, "HP:0001818": { "name": [ "paronychia", "paronychia" ], "alt_id": [], "def": "The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).", "synonym": [], "xref": [ "MEDDRA:10034016 \"Paronychia\"", "MSH:D010304", "SNOMEDCT_US:71906005", "UMLS:C0030578" ], "is_a": [ "HP:0100803" ], "is_obsolete": "", "replace_id": "" }, "HP:0001820": { "name": [ "leukonychia", "leukonychia" ], "alt_id": [], "def": "White discoloration of the nails.", "synonym": [ [ "white discoloration of nails", "white discoloration of nail" ] ], "xref": [ "MEDDRA:10050658 \"Leukonychia\"", "SNOMEDCT_US:111202002", "UMLS:C0240182" ], "is_a": [ "HP:0100643" ], "is_obsolete": "", "replace_id": "" }, "HP:0001821": { "name": [ "broad nail", "broad nail" ], "alt_id": [ "HP:0008406" ], "def": "Increased width of nail.", "synonym": [ [ "broad fingernails", "broad fingernail" ], [ "broad nail", "broad nail" ], [ "wide fingernails", "wide fingernail" ] ], "xref": [ "UMLS:C1843112" ], "is_a": [ "HP:0002164" ], "is_obsolete": "", "replace_id": "" }, "HP:0001822": { "name": [ "hallux valgus", "hallux valgus" ], "alt_id": [ "HP:0004682" ], "def": "Lateral deviation of the great toe (i.e., in the direction of the little toe).", "synonym": [ [ "bunion", "bunion" ], [ "lateral deviation of great toe", "lateral deviation of great toe" ], [ "lateral deviation of halluces", "lateral deviation of hallux" ] ], "xref": [ "MSH:D000071378", "MSH:D006215", "SNOMEDCT_US:122480009", "SNOMEDCT_US:415692008", "UMLS:C0006386", "UMLS:C0018536" ], "is_a": [ "HP:0010051" ], "is_obsolete": "", "replace_id": "" }, "HP:0001824": { "name": [ "weight loss", "weight loss" ], "alt_id": [], "def": "Reduction of total body weight.", "synonym": [ [ "loss of weight", "loss of weight" ] ], "xref": [ "MSH:D015431", "SNOMEDCT_US:161832001", "SNOMEDCT_US:262285001", "SNOMEDCT_US:89362005", "UMLS:C1262477" ], "is_a": [ "HP:0004325" ], "is_obsolete": "", "replace_id": "" }, "HP:0001827": { "name": [ "genital tract atresia", "genital tract atresia" ], "alt_id": [ "HP:0001534" ], "def": "Congenital occlusion of a tube in the genital tract.", "synonym": [], "xref": [ "UMLS:C4025746" ], "is_a": [ "HP:0012243" ], "is_obsolete": "", "replace_id": "" }, "HP:0001829": { "name": [ "foot polydactyly", "foot polydactyly" ], "alt_id": [ "HP:0009135" ], "def": "A kind of polydactyly characterized by the presence of a supernumerary toe or toes.", "synonym": [ [ "duplication of bones of the toes", "duplication of bone of the toe" ], [ "polydactyly of feet", "polydactyly of foot" ], [ "polydactyly of the foot", "polydactyly of the foot" ] ], "xref": [ "SNOMEDCT_US:62218008", "UMLS:C0158734" ], "is_a": [ "HP:0001780", "HP:0009136", "HP:0010442" ], "is_obsolete": "", "replace_id": "" }, "HP:0001830": { "name": [ "postaxial foot polydactyly", "postaxial foot polydactyly" ], "alt_id": [ "HP:0010346" ], "def": "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.", "synonym": [ [ "extra toe attached near the little toe", "extra toe attach near the little toe" ], [ "fibular polydactyly", "fibular polydactyly" ], [ "polydactyly affecting the 5th toe", "polydactyly affect the 5th toe" ], [ "postaxial polydactyly of feet", "postaxial polydactyly of foot" ], [ "postaxial polydactyly of foot", "postaxial polydactyly of foot" ], [ "posterior polydactyly of foot", "posterior polydactyly of foot" ] ], "xref": [ "UMLS:C2112129", "UMLS:C4020865" ], "is_a": [ "HP:0001829", "HP:0010322", "HP:0100259" ], "is_obsolete": "", "replace_id": "" }, "HP:0001831": { "name": [ "short toe", "short toe" ], "alt_id": [ "HP:0001767", "HP:0001781", "HP:0001855", "HP:0004701", "HP:0005889", "HP:0008099" ], "def": "A toe that appears disproportionately short compared to the foot.", "synonym": [ [ "brachydactyly of the foot", "brachydactyly of the foot" ], [ "hypoplasia of the toe", "hypoplasia of the toe" ], [ "hypoplastic toes", "hypoplastic toe" ], [ "short foot phalanges", "short foot phalanx" ], [ "short toe", "short toe" ], [ "short toes", "short toe" ], [ "stubby toes", "stubby toe" ] ], "xref": [ "UMLS:C1836195" ], "is_a": [ "HP:0001991", "HP:0011927" ], "is_obsolete": "", "replace_id": "" }, "HP:0001832": { "name": [ "abnormal metatarsal morphology", "abnormal metatarsal morphology" ], "alt_id": [], "def": "Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).", "synonym": [ [ "abnormality of the long bone of foot", "abnormality of the long bone of foot" ] ], "xref": [ "UMLS:C4025745" ], "is_a": [ "HP:0001760", "HP:0040069" ], "is_obsolete": "", "replace_id": "" }, "HP:0001833": { "name": [ "long foot", "long foot" ], "alt_id": [ "HP:0008136", "HP:0008143" ], "def": "Increased back to front length of the foot.", "synonym": [ [ "disproportionately large feet", "disproportionately large foot" ], [ "large feet", "large foot" ], [ "long feet", "long foot" ], [ "long foot", "long foot" ] ], "xref": [ "SNOMEDCT_US:299462005", "UMLS:C0576225" ], "is_a": [ "HP:0001760" ], "is_obsolete": "", "replace_id": "" }, "HP:0001836": { "name": [ "camptodactyly of toe", "camptodactyly of toe" ], "alt_id": [], "def": "Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.", "synonym": [ [ "camptodactyly of feet", "camptodactyly of foot" ] ], "xref": [ "UMLS:C4021774" ], "is_a": [ "HP:0005830", "HP:0012385" ], "is_obsolete": "", "replace_id": "" }, "HP:0001837": { "name": [ "broad toe", "broad toe" ], "alt_id": [], "def": "Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.", "synonym": [ [ "broad toe", "broad toe" ], [ "wide toe", "wide toe" ] ], "xref": [ "UMLS:C1865038" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0001838": { "name": [ "rocker bottom foot", "rocker bottom foot" ], "alt_id": [ "HP:0001835", "HP:0004693", "HP:0010218" ], "def": "The presence of both a prominent heel and a convex contour of the sole.", "synonym": [ [ "congenital vertical talus", "congenital vertical talus" ], [ "rocker bottom feet", "rocker bottom foot" ], [ "rocker bottom foot", "rocker bottom foot" ], [ "rocker - bottom feet", "rocker - bottom foot" ], [ "rockerbottom feet", "rockerbottom foot" ] ], "xref": [ "MEDDRA:10066242 \"Vertical talus\"", "MSH:C536345", "MSH:D005413", "SNOMEDCT_US:205082007", "SNOMEDCT_US:205359003", "UMLS:C0240912" ], "is_a": [ "HP:0008365" ], "is_obsolete": "", "replace_id": "" }, "HP:0001839": { "name": [ "split foot", "split foot" ], "alt_id": [ "HP:0003062", "HP:0005904" ], "def": "A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.", "synonym": [ [ "foot ectrodactyly", "foot ectrodactyly" ], [ "lobster - claw foot deformity", "lobster - claw foot deformity" ], [ "split foot", "split foot" ], [ "split - foot", "split - foot" ] ], "xref": [ "SNOMEDCT_US:205358006", "UMLS:C0432028" ], "is_a": [ "HP:0001760", "HP:0100257" ], "is_obsolete": "", "replace_id": "" }, "HP:0001840": { "name": [ "metatarsus adductus", "metatarsus adductus" ], "alt_id": [ "HP:0001768", "HP:0010217" ], "def": "The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.", "synonym": [ [ "forefoot varus", "forefoot varus" ], [ "front half of foot turns inward", "front half of foot turn inward" ], [ "intoe", "intoe" ], [ "metatarsus adductovarsus", "metatarsus adductovarsus" ], [ "metatarsus varus", "metatarsus varus" ] ], "xref": [ "MSH:D000070592", "SNOMEDCT_US:77599005", "UMLS:C0231791", "UMLS:C4082169" ], "is_a": [ "HP:0001832" ], "is_obsolete": "", "replace_id": "" }, "HP:0001841": { "name": [ "preaxial foot polydactyly", "preaxial foot polydactyly" ], "alt_id": [ "HP:0009607", "HP:0010050" ], "def": "Duplication of all or part of the first ray.", "synonym": [ [ "partial / complete duplication of the phalanges of the big toe", "partial / complete duplication of the phalanx of the big toe" ], [ "polydactyly affecting the hallux", "polydactyly affect the hallux" ], [ "preaxial hallucal polydactyly", "preaxial hallucal polydactyly" ], [ "preaxial polydactyly of feet", "preaxial polydactyly of foot" ], [ "preaxial polydactyly of foot", "preaxial polydactyly of foot" ], [ "preaxial polydactyly of the feet", "preaxial polydactyly of the foot" ], [ "preaxial polydactyly , feet", "preaxial polydactyly , foot" ] ], "xref": [ "MSH:C566632", "UMLS:C1866339", "UMLS:C2112942" ], "is_a": [ "HP:0001829", "HP:0001844", "HP:0100258" ], "is_obsolete": "", "replace_id": "" }, "HP:0001842": { "name": [ "foot acroosteolysis", "foot acroosteolysis" ], "alt_id": [], "def": "", "synonym": [ [ "acroosteolysis of feet", "acroosteolysis of foot" ] ], "xref": [ "UMLS:C4025744" ], "is_a": [ "HP:0010177" ], "is_obsolete": "", "replace_id": "" }, "HP:0001844": { "name": [ "abnormality of the hallux", "abnormality of the hallux" ], "alt_id": [], "def": "This term applies for all abnormalities of the big toe, also called hallux.", "synonym": [ [ "abnormalities of the hallux", "abnormality of the hallux" ], [ "abnormality of the big toe", "abnormality of the big toe" ] ], "xref": [ "UMLS:C4021773" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0001845": { "name": [ "overlapping toe", "overlap toe" ], "alt_id": [], "def": "Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.", "synonym": [ [ "crossover toe", "crossover toe" ], [ "overlapping toe", "overlap toe" ], [ "overlapping toes", "overlap toe" ], [ "overriding toes", "override toe" ] ], "xref": [ "SNOMEDCT_US:203541003", "UMLS:C0920299" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0001847": { "name": [ "long hallux", "long hallux" ], "alt_id": [ "HP:0001867" ], "def": "Increased length of the big toe.", "synonym": [ [ "increased length of the hallux", "increased length of the hallux" ], [ "large halluces", "large hallux" ], [ "long big toe", "long big toe" ], [ "long halluces", "long hallux" ] ], "xref": [ "UMLS:C1864375" ], "is_a": [ "HP:0001844", "HP:0010511" ], "is_obsolete": "", "replace_id": "" }, "HP:0001848": { "name": [ "calcaneovalgus deformity", "calcaneovalgus deformity" ], "alt_id": [ "HP:0001774", "HP:0008120" ], "def": "This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).", "synonym": [ [ "calcaneovalgus", "calcaneovalgus" ], [ "calcaneovalgus foot", "calcaneovalgus foot" ], [ "foot and ankle bend up toward shin of leg", "foot and ankle bend up toward shin of leg" ], [ "valgus position of the calcaneus", "valgus position of the calcaneus" ] ], "xref": [ "UMLS:C1860450" ], "is_a": [ "HP:0008119", "HP:0008364" ], "is_obsolete": "", "replace_id": "" }, "HP:0001849": { "name": [ "foot oligodactyly", "foot oligodactyly" ], "alt_id": [ "HP:0001777" ], "def": "A developmental defect resulting in the presence of fewer than the normal number of toes.", "synonym": [ [ "missing toes", "miss toe" ], [ "oligodactyly of feet", "oligodactyly of foot" ] ], "xref": [ "SNOMEDCT_US:249820005", "UMLS:C0426934" ], "is_a": [ "HP:0010760", "HP:0012165" ], "is_obsolete": "", "replace_id": "" }, "HP:0001850": { "name": [ "abnormality of the tarsal bones", "abnormality of the tarsal bone" ], "alt_id": [], "def": "An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.", "synonym": [ [ "abnormal ankle bones", "abnormal ankle bone" ], [ "abnormal tarsals", "abnormal tarsal" ] ], "xref": [ "UMLS:C1862136" ], "is_a": [ "HP:0001760", "HP:0040069" ], "is_obsolete": "", "replace_id": "" }, "HP:0001852": { "name": [ "sandal gap", "sandal gap" ], "alt_id": [], "def": "A widely spaced gap between the first toe (the great toe) and the second toe.", "synonym": [ [ "gap between 1st and 2nd toes", "gap between 1st and 2nd toe" ], [ "gap between first and second toe", "gap between first and second toe" ], [ "increased space between first and second toes", "increase space between first and second toe" ], [ "sandal gap between first and second toes", "sandal gap between first and second toe" ], [ "space between great toe and second toe", "space between great toe and second toe" ], [ "wide space between 1st , 2nd toes", "wide space between 1st , 2nd toe" ], [ "wide space between first and second toes", "wide space between first and second toe" ], [ "wide - spaced big toe", "wide - space big toe" ], [ "widely spaced 1st - 2nd toes", "widely space 1st - 2nd toe" ], [ "widely spaced first and second toes", "widely space first and second toe" ], [ "widened gap 1st - 2nd toes", "widen gap 1st - 2nd toe" ], [ "widened gap first and second toe", "widen gap first and second toe" ] ], "xref": [ "UMLS:C1840069" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0001853": { "name": [ "bifid distal phalanx of toe", "bifid distal phalanx of toe" ], "alt_id": [ "HP:0005615" ], "def": "", "synonym": [ [ "bifid distal phalanges of toes", "bifid distal phalanx of toe" ], [ "bifid terminal phalanx of toe", "bifid terminal phalanx of toe" ], [ "notched outermost bones of toes", "notch outermost bone of toe" ] ], "xref": [ "UMLS:C4021772" ], "is_a": [ "HP:0009136" ], "is_obsolete": "", "replace_id": "" }, "HP:0001854": { "name": [ "podagra", "podagra" ], "alt_id": [], "def": "Gout affecting the Metatarsophalangeal joint of big toe.", "synonym": [ [ "gout of big toe", "gout of big toe" ] ], "xref": [ "SNOMEDCT_US:67148009", "UMLS:C0221168" ], "is_a": [ "HP:0001760", "HP:0001997" ], "is_obsolete": "", "replace_id": "" }, "HP:0001857": { "name": [ "short distal phalanx of toe", "short distal phalanx of toe" ], "alt_id": [], "def": "Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.", "synonym": [ [ "hypoplastic distal phalanges of feet", "hypoplastic distal phalanx of foot" ], [ "short outermost bone of toe", "short outermost bone of toe" ] ], "xref": [ "UMLS:C4021771" ], "is_a": [ "HP:0005035", "HP:0010185" ], "is_obsolete": "", "replace_id": "" }, "HP:0001859": { "name": [ "distal foot symphalangism", "distal foot symphalangism" ], "alt_id": [ "HP:0100236" ], "def": "", "synonym": [], "xref": [ "UMLS:C4025743" ], "is_a": [ "HP:0010179", "HP:0100235", "HP:0100263" ], "is_obsolete": "", "replace_id": "" }, "HP:0001862": { "name": [ "obsolete acral ulceration and osteomyelitis leading to autoamputation of the digits ( feet )", "obsolete acral ulceration and osteomyelitis lead to autoamputation of the digit ( foot )" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0006121" }, "HP:0001863": { "name": [ "toe clinodactyly", "toe clinodactyly" ], "alt_id": [], "def": "Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).", "synonym": [ [ "clinodactyly of feet", "clinodactyly of foot" ], [ "toe curvature", "toe curvature" ] ], "xref": [ "UMLS:C4021770", "UMLS:C4280587" ], "is_a": [ "HP:0030084", "HP:0100498" ], "is_obsolete": "", "replace_id": "" }, "HP:0001864": { "name": [ "clinodactyly of the 5th toe", "clinodactyly of the 5th toe" ], "alt_id": [], "def": "Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).", "synonym": [ [ "curvature of the little toe", "curvature of the little toe" ], [ "curvature of the pinkie toe", "curvature of the pinkie toe" ], [ "curvature of the pinky toe", "curvature of the pinky toe" ] ], "xref": [ "UMLS:C4025741", "UMLS:C4280586" ], "is_a": [ "HP:0001863", "HP:0010344" ], "is_obsolete": "", "replace_id": "" }, "HP:0001868": { "name": [ "autoamputation of foot", "autoamputation of foot" ], "alt_id": [], "def": "Spontaneous detachment of a foot from the body.", "synonym": [], "xref": [ "UMLS:C4025740" ], "is_a": [ "HP:0001218", "HP:0001760" ], "is_obsolete": "", "replace_id": "" }, "HP:0001869": { "name": [ "deep plantar creases", "deep plantar crease" ], "alt_id": [], "def": "The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.", "synonym": [ [ "deep wrinkles in soles of feet", "deep wrinkle in sol of foot" ] ], "xref": [ "UMLS:C1857953" ], "is_a": [ "HP:0100872" ], "is_obsolete": "", "replace_id": "" }, "HP:0001870": { "name": [ "acroosteolysis of distal phalanges ( feet )", "acroosteolysis of distal phalanx ( foot )" ], "alt_id": [], "def": "", "synonym": [ [ "acroosteolysis of distal phalanges of feet", "acroosteolysis of distal phalanx of foot" ] ], "xref": [ "UMLS:C4025739" ], "is_a": [ "HP:0001842", "HP:0010189" ], "is_obsolete": "", "replace_id": "" }, "HP:0001871": { "name": [ "abnormality of blood and blood - forming tissues", "abnormality of blood and blood - forming tissue" ], "alt_id": [ "HP:0003135" ], "def": "An abnormality of the hematopoietic system.", "synonym": [ [ "abnormality of blood and blood - forming tissues", "abnormality of blood and blood - forming tissue" ], [ "abnormality of the haematopoietic system", "abnormality of the haematopoietic system" ], [ "abnormality of the hematopoietic system", "abnormality of the hematopoietic system" ], [ "haematological abnormality", "haematological abnormality" ], [ "hematologic disease", "hematologic disease" ], [ "hematological abnormality", "hematological abnormality" ] ], "xref": [ "MSH:D006402", "SNOMEDCT_US:191124002", "SNOMEDCT_US:34093004", "UMLS:C0018939", "UMLS:C0850715", "UMLS:C4020864" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0001872": { "name": [ "abnormal thrombocyte morphology", "abnormal thrombocyte morphology" ], "alt_id": [ "HP:0004807", "HP:0005554" ], "def": "An abnormality of platelets.", "synonym": [ [ "blood platelet disease", "blood platelet disease" ], [ "platelet abnormalities", "platelet abnormality" ], [ "thrombasthenia", "thrombasthenia" ] ], "xref": [ "MSH:D013915", "SNOMEDCT_US:127566005", "SNOMEDCT_US:32942005", "UMLS:C0040015", "UMLS:C0151854", "UMLS:C4020863" ], "is_a": [ "HP:0001871" ], "is_obsolete": "", "replace_id": "" }, "HP:0001873": { "name": [ "thrombocytopenia", "thrombocytopenia" ], "alt_id": [ "HP:0001906", "HP:0004838", "HP:0008175", "HP:0008268", "HP:0008302" ], "def": "A reduction in the number of circulating thrombocytes.", "synonym": [ [ "low platelet count", "low platelet count" ] ], "xref": [ "MSH:D013921", "SNOMEDCT_US:302215000", "SNOMEDCT_US:415116008", "UMLS:C0040034", "UMLS:C0392386" ], "is_a": [ "HP:0011873" ], "is_obsolete": "", "replace_id": "" }, "HP:0001874": { "name": [ "abnormality of neutrophils", "abnormality of neutrophil" ], "alt_id": [], "def": "A neutrophil abnormality.", "synonym": [ [ "abnormality of neutrophil", "abnormality of neutrophil" ], [ "abnormality of neutrophils", "abnormality of neutrophil" ], [ "abnormality of polymorphonuclear neutrophils", "abnormality of polymorphonuclear neutrophil" ] ], "xref": [ "SNOMEDCT_US:250274006", "UMLS:C0427515" ], "is_a": [ "HP:0001911" ], "is_obsolete": "", "replace_id": "" }, "HP:0001875": { "name": [ "neutropenia", "neutropenia" ], "alt_id": [ "HP:0005515", "HP:0005533" ], "def": "An abnormally low number of neutrophils in the peripheral blood.", "synonym": [ [ "low blood neutrophil count", "low blood neutrophil count" ], [ "low neutrophil count", "low neutrophil count" ], [ "neutropoenia", "neutropoenia" ], [ "peripheral neutropenia", "peripheral neutropenia" ] ], "xref": [ "SNOMEDCT_US:165517008", "UMLS:C0853697" ], "is_a": [ "HP:0011991" ], "is_obsolete": "", "replace_id": "" }, "HP:0001876": { "name": [ "pancytopenia", "pancytopenia" ], "alt_id": [], "def": "An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).", "synonym": [ [ "low blood cell count", "low blood cell count" ], [ "pancytopaenia", "pancytopaenia" ] ], "xref": [ "MSH:D010198", "SNOMEDCT_US:127034005", "UMLS:C0030312" ], "is_a": [ "HP:0012145" ], "is_obsolete": "", "replace_id": "" }, "HP:0001877": { "name": [ "abnormal erythrocyte morphology", "abnormal erythrocyte morphology" ], "alt_id": [ "HP:0010973" ], "def": "Any structural abnormality of erythrocytes (red-blood cells).", "synonym": [ [ "abnormality of erythrocytes", "abnormality of erythrocyte" ], [ "abnormality of erythroid lineage cell", "abnormality of erythroid lineage cell" ], [ "abnormality of red blood cells", "abnormality of red blood cell" ] ], "xref": [ "SNOMEDCT_US:12222001", "UMLS:C0391870", "UMLS:C4020862" ], "is_a": [ "HP:0001871" ], "is_obsolete": "", "replace_id": "" }, "HP:0001878": { "name": [ "hemolytic anemia", "hemolytic anemia" ], "alt_id": [ "HP:0001910", "HP:0004827", "HP:0004853", "HP:0004868", "HP:0005503" ], "def": "A type of anemia caused by premature destruction of red blood cells (hemolysis).", "synonym": [ [ "haemolytic anaemia", "haemolytic anaemia" ], [ "hemolytic anaemia", "hemolytic anaemia" ], [ "increased hemolysis", "increase hemolysis" ] ], "xref": [ "MSH:D000743", "SNOMEDCT_US:61261009", "UMLS:C0002878" ], "is_a": [ "HP:0011895" ], "is_obsolete": "", "replace_id": "" }, "HP:0001879": { "name": [ "abnormal eosinophil morphology", "abnormal eosinophil morphology" ], "alt_id": [], "def": "An abnormal count or structure of eosinophils.", "synonym": [ [ "abnormality of eosinophils", "abnormality of eosinophil" ] ], "xref": [ "UMLS:C4025738" ], "is_a": [ "HP:0001911" ], "is_obsolete": "", "replace_id": "" }, "HP:0001880": { "name": [ "eosinophilia", "eosinophilia" ], "alt_id": [], "def": "Increased count of eosinophils in the blood.", "synonym": [ [ "high blood eosinophil count", "high blood eosinophil count" ] ], "xref": [ "MSH:D004802", "UMLS:C0014457" ], "is_a": [ "HP:0001974", "HP:0020064" ], "is_obsolete": "", "replace_id": "" }, "HP:0001881": { "name": [ "abnormal leukocyte morphology", "abnormal leukocyte morphology" ], "alt_id": [], "def": "An abnormality of leukocytes.", "synonym": [ [ "abnormality of leukocytes", "abnormality of leukocyte" ] ], "xref": [ "SNOMEDCT_US:134199001", "SNOMEDCT_US:24827003", "UMLS:C0152009" ], "is_a": [ "HP:0001871", "HP:0010987" ], "is_obsolete": "", "replace_id": "" }, "HP:0001882": { "name": [ "leukopenia", "leukopenia" ], "alt_id": [], "def": "An abnormal decreased number of leukocytes in the blood.", "synonym": [ [ "decreased blood leukocyte number", "decrease blood leukocyte number" ], [ "low white blood cell count", "low white blood cell count" ] ], "xref": [ "MSH:D007970", "SNOMEDCT_US:84828003", "UMLS:C0023530" ], "is_a": [ "HP:0011893" ], "is_obsolete": "", "replace_id": "" }, "HP:0001883": { "name": [ "talipes", "talipes" ], "alt_id": [], "def": "A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.", "synonym": [ [ "talipes foot deformities", "talipes foot deformity" ] ], "xref": [ "MSH:D000070558", "SNOMEDCT_US:398309008", "UMLS:C1301937", "UMLS:C3552713" ], "is_a": [ "HP:0005656" ], "is_obsolete": "", "replace_id": "" }, "HP:0001884": { "name": [ "talipes calcaneovalgus", "talipes calcaneovalgus" ], "alt_id": [], "def": "Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \\\"up and out\\", "synonym": [ [ "pes calcaneovarus", "pe calcaneovarus" ] ], "xref": [ "MSH:D005413", "SNOMEDCT_US:205083002", "SNOMEDCT_US:31668003", "UMLS:C0152237" ], "is_a": [ "HP:0001883" ], "is_obsolete": "", "replace_id": "" }, "HP:0001885": { "name": [ "short 2nd toe", "short 2nd toe" ], "alt_id": [], "def": "Underdevelopment (hypoplasia) of the second toe.", "synonym": [ [ "short second toe", "short second toe" ] ], "xref": [ "UMLS:C4021769" ], "is_a": [ "HP:0001831" ], "is_obsolete": "", "replace_id": "" }, "HP:0001886": { "name": [ "foot osteomyelitis", "foot osteomyelitis" ], "alt_id": [], "def": "An infection of bone of the foot.", "synonym": [ [ "foot bone infection", "foot bone infection" ] ], "xref": [ "UMLS:C4025737" ], "is_a": [ "HP:0001760", "HP:0002754" ], "is_obsolete": "", "replace_id": "" }, "HP:0001888": { "name": [ "lymphopenia", "lymphopenia" ], "alt_id": [], "def": "A reduced number of lymphocytes in the blood.", "synonym": [ [ "absolute lymphocyte count decrease", "absolute lymphocyte count decrease" ], [ "decreased blood lymphocyte number", "decrease blood lymphocyte number" ], [ "low lymphocyte number", "low lymphocyte number" ], [ "lymphocytopenia", "lymphocytopenia" ] ], "xref": [ "MSH:D008231", "SNOMEDCT_US:48813009", "UMLS:C0024312" ], "is_a": [ "HP:0040088" ], "is_obsolete": "", "replace_id": "" }, "HP:0001889": { "name": [ "megaloblastic anemia", "megaloblastic anemia" ], "alt_id": [ "HP:0004858" ], "def": "Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).", "synonym": [ [ "megaloblastic anaemia", "megaloblastic anaemia" ] ], "xref": [ "MSH:D000749", "SNOMEDCT_US:53165003", "UMLS:C0002888" ], "is_a": [ "HP:0001972" ], "is_obsolete": "", "replace_id": "" }, "HP:0001890": { "name": [ "autoimmune hemolytic anemia", "autoimmune hemolytic anemia" ], "alt_id": [], "def": "An autoimmune form of hemolytic anemia.", "synonym": [ [ "autoimmune haemolytic anaemia", "autoimmune haemolytic anaemia" ], [ "autoimmune hemolytic anaemia", "autoimmune hemolytic anaemia" ], [ "hemolytic anemia , autoimmune", "hemolytic anemia , autoimmune" ] ], "xref": [ "MSH:D000744", "SNOMEDCT_US:413603009", "UMLS:C0002880" ], "is_a": [ "HP:0001878", "HP:0002960" ], "is_obsolete": "", "replace_id": "" }, "HP:0001891": { "name": [ "iron deficiency anemia", "iron deficiency anemia" ], "alt_id": [], "def": "", "synonym": [ [ "ferropenic", "ferropenic" ], [ "iron deficiency anaemia", "iron deficiency anaemia" ], [ "iron - deficiency anaemia", "iron - deficiency anaemia" ], [ "iron - deficiency anemia", "iron - deficiency anemia" ] ], "xref": [ "MSH:D018798", "SNOMEDCT_US:87522002", "UMLS:C0162316" ], "is_a": [ "HP:0001931" ], "is_obsolete": "", "replace_id": "" }, "HP:0001892": { "name": [ "abnormal bleeding", "abnormal bleeding" ], "alt_id": [ "HP:0004830", "HP:0004834", "HP:0004849", "HP:0004862", "HP:0004865", "HP:0008183" ], "def": "An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.", "synonym": [ [ "bleeding diathesis", "bleed diathesis" ], [ "bleeding tendency", "bleeding tendency" ], [ "hemorrhagic diathesis", "hemorrhagic diathesis" ] ], "xref": [ "SNOMEDCT_US:248250000", "SNOMEDCT_US:64779008", "UMLS:C1458140" ], "is_a": [ "HP:0001871" ], "is_obsolete": "", "replace_id": "" }, "HP:0001894": { "name": [ "thrombocytosis", "thrombocytosis" ], "alt_id": [], "def": "Increased numbers of platelets in the peripheral blood.", "synonym": [ [ "increased number of platelets in blood", "increased number of platelet in blood" ], [ "increased platelet count", "increase platelet count" ], [ "thrombocythaemia", "thrombocythaemia" ], [ "thrombocythemia", "thrombocythemia" ] ], "xref": [ "MSH:D013922", "SNOMEDCT_US:415115007", "SNOMEDCT_US:6631009", "UMLS:C0836924", "UMLS:C0857460" ], "is_a": [ "HP:0011873" ], "is_obsolete": "", "replace_id": "" }, "HP:0001895": { "name": [ "normochromic anemia", "normochromic anemia" ], "alt_id": [], "def": "", "synonym": [ [ "normochromic anaemia", "normochromic anaemia" ] ], "xref": [ "UMLS:C0235983" ], "is_a": [ "HP:0010972" ], "is_obsolete": "", "replace_id": "" }, "HP:0001896": { "name": [ "reticulocytopenia", "reticulocytopenia" ], "alt_id": [], "def": "A reduced number of reticulocytes in the peripheral blood.", "synonym": [], "xref": [ "SNOMEDCT_US:124961001", "UMLS:C0858867" ], "is_a": [ "HP:0004312" ], "is_obsolete": "", "replace_id": "" }, "HP:0001897": { "name": [ "normocytic anemia", "normocytic anemia" ], "alt_id": [], "def": "A kind of anemia in which the volume of the red blood cells is normal.", "synonym": [ [ "normocytic anaemia", "normocytic anaemia" ] ], "xref": [ "SNOMEDCT_US:300980002", "UMLS:C0085577" ], "is_a": [ "HP:0010972" ], "is_obsolete": "", "replace_id": "" }, "HP:0001898": { "name": [ "increased red blood cell mass", "increase red blood cell mass" ], "alt_id": [], "def": "The presence of an increased mass of red blood cells in the circulation.", "synonym": [ [ "increased rbc mass", "increase rbc mass" ] ], "xref": [ "UMLS:C1853288" ], "is_a": [ "HP:0001901" ], "is_obsolete": "", "replace_id": "" }, "HP:0001899": { "name": [ "increased hematocrit", "increase hematocrit" ], "alt_id": [], "def": "An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.", "synonym": [ [ "increased hct", "increase hct" ] ], "xref": [ "UMLS:C0239935" ], "is_a": [ "HP:0031850" ], "is_obsolete": "", "replace_id": "" }, "HP:0001900": { "name": [ "increased hemoglobin", "increase hemoglobin" ], "alt_id": [], "def": "", "synonym": [ [ "increased haemoglobin", "increase haemoglobin" ], [ "increased hb", "increase hb" ] ], "xref": [ "SNOMEDCT_US:131141003", "UMLS:C0549448" ], "is_a": [ "HP:0001901" ], "is_obsolete": "", "replace_id": "" }, "HP:0001901": { "name": [ "polycythemia", "polycythemia" ], "alt_id": [ "HP:0001893" ], "def": "Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.", "synonym": [ [ "abnormally shaped erythrocytes", "abnormally shape erythrocyte" ], [ "erythrocytosis", "erythrocytosis" ], [ "increased red blood cells", "increase red blood cell" ], [ "polyglobulia", "polyglobulia" ] ], "xref": [ "MSH:D011086", "SNOMEDCT_US:109992005", "SNOMEDCT_US:127062003", "UMLS:C0032461", "UMLS:C1527405" ], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0001902": { "name": [ "giant platelets", "giant platelet" ], "alt_id": [], "def": "Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).", "synonym": [], "xref": [ "SNOMEDCT_US:44687006", "UMLS:C0333864" ], "is_a": [ "HP:0011877" ], "is_obsolete": "", "replace_id": "" }, "HP:0001903": { "name": [ "anemia", "anemia" ], "alt_id": [ "HP:0001926", "HP:0003136", "HP:0005509" ], "def": "A reduction in erythrocytes volume or hemoglobin concentration.", "synonym": [ [ "anaemia", "anaemia" ], [ "decreased haemoglobin", "decrease haemoglobin" ], [ "decreased hemoglobin", "decrease hemoglobin" ], [ "low number of red blood cells or haemoglobin", "low number of red blood cell or haemoglobin" ], [ "low number of red blood cells or hemoglobin", "low number of red blood cell or hemoglobin" ] ], "xref": [ "MSH:D000740", "SNOMEDCT_US:165397008", "SNOMEDCT_US:271737000", "UMLS:C0002871", "UMLS:C0162119" ], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0001904": { "name": [ "neutropenia in presence of anti - neutropil antibodies", "neutropenia in presence of anti - neutropil antibody" ], "alt_id": [], "def": "A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.", "synonym": [ [ "autoimmune neutropenia", "autoimmune neutropenia" ] ], "xref": [ "SNOMEDCT_US:234425008", "UMLS:C0340971" ], "is_a": [ "HP:0001875", "HP:0002960" ], "is_obsolete": "", "replace_id": "" }, "HP:0001905": { "name": [ "congenital thrombocytopenia", "congenital thrombocytopenia" ], "alt_id": [ "HP:0004869" ], "def": "Thrombocytopenia with congenital onset.", "synonym": [ [ "thrombocytopenia , congenital", "thrombocytopenia , congenital" ] ], "xref": [ "UMLS:C0272278" ], "is_a": [ "HP:0001873" ], "is_obsolete": "", "replace_id": "" }, "HP:0001907": { "name": [ "thromboembolism", "thromboembolism" ], "alt_id": [], "def": "The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.", "synonym": [ [ "blood clot in blood vessel", "blood clot in blood vessel" ], [ "embolism and thrombosis", "embolism and thrombosis" ], [ "thromboembolic disease", "thromboembolic disease" ], [ "thromboembolic events", "thromboembolic event" ] ], "xref": [ "MSH:D013923", "MSH:D016769", "SNOMEDCT_US:13713005", "SNOMEDCT_US:371039008", "UMLS:C0040038", "UMLS:C0085307" ], "is_a": [ "HP:0001977" ], "is_obsolete": "", "replace_id": "" }, "HP:0001908": { "name": [ "hypoplastic anemia", "hypoplastic anemia" ], "alt_id": [], "def": "Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.", "synonym": [ [ "hypoplastic anaemia", "hypoplastic anaemia" ] ], "xref": [ "MSH:D000741", "SNOMEDCT_US:167923006", "SNOMEDCT_US:41614006", "UMLS:C0178416" ], "is_a": [ "HP:0010972" ], "is_obsolete": "", "replace_id": "" }, "HP:0001909": { "name": [ "leukemia", "leukemia" ], "alt_id": [ "HP:0005519", "HP:0006726" ], "def": "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.", "synonym": [ [ "blood cancer", "blood cancer" ], [ "leukaemia", "leukaemia" ] ], "xref": [ "MSH:D007938", "MSH:D019337", "SNOMEDCT_US:129154003", "SNOMEDCT_US:269475001", "SNOMEDCT_US:87163000", "SNOMEDCT_US:93143009", "UMLS:C0023418", "UMLS:C0376545" ], "is_a": [ "HP:0001881", "HP:0004377" ], "is_obsolete": "", "replace_id": "" }, "HP:0001911": { "name": [ "abnormal granulocyte morphology", "abnormal granulocyte morphology" ], "alt_id": [ "HP:0005438" ], "def": "Any structural abnormality or abnormal count of granulocytes.", "synonym": [ [ "abnormality of granulocytes", "abnormality of granulocyte" ] ], "xref": [ "SNOMEDCT_US:250274006", "UMLS:C0427515" ], "is_a": [ "HP:0010974" ], "is_obsolete": "", "replace_id": "" }, "HP:0001912": { "name": [ "abnormal basophil morphology", "abnormal basophil morphology" ], "alt_id": [], "def": "Any structural abnormality or abnormal count of basophils.", "synonym": [ [ "abnormality of basophils", "abnormality of basophil" ] ], "xref": [ "UMLS:C4025736" ], "is_a": [ "HP:0001911" ], "is_obsolete": "", "replace_id": "" }, "HP:0001913": { "name": [ "granulocytopenia", "granulocytopenia" ], "alt_id": [], "def": "An abnormally reduced number of granulocytes in the blood.", "synonym": [], "xref": [ "MSH:D000380", "SNOMEDCT_US:17182001", "SNOMEDCT_US:417672002", "UMLS:C0001824" ], "is_a": [ "HP:0032309" ], "is_obsolete": "", "replace_id": "" }, "HP:0001915": { "name": [ "aplastic anemia", "aplastic anemia" ], "alt_id": [], "def": "Aplastic anemia is defined as pancytopenia with a hypocellular marrow.", "synonym": [ [ "aplastic anaemia", "aplastic anaemia" ] ], "xref": [ "MSH:D000741", "SNOMEDCT_US:304132006", "SNOMEDCT_US:306058006", "UMLS:C0002874" ], "is_a": [ "HP:0001876" ], "is_obsolete": "", "replace_id": "" }, "HP:0001917": { "name": [ "renal amyloidosis", "renal amyloidosis" ], "alt_id": [], "def": "A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).", "synonym": [], "xref": [ "SNOMEDCT_US:48713002", "UMLS:C0268382" ], "is_a": [ "HP:0011034", "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0001919": { "name": [ "acute kidney injury", "acute kidney injury" ], "alt_id": [], "def": "Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).", "synonym": [ [ "acute kidney failure", "acute kidney failure" ], [ "acute renal failure", "acute renal failure" ] ], "xref": [ "MSH:D058186", "SNOMEDCT_US:14350001000004108", "SNOMEDCT_US:14669001", "UMLS:C0022660", "UMLS:C2609414" ], "is_a": [ "HP:0000083" ], "is_obsolete": "", "replace_id": "" }, "HP:0001920": { "name": [ "renal artery stenosis", "renal artery stenosis" ], "alt_id": [], "def": "The presence of stenosis of the renal artery.", "synonym": [ [ "narrowing of kidney artery", "narrowing of kidney artery" ] ], "xref": [ "Fyler:2634", "MSH:D012078", "SNOMEDCT_US:282664001", "SNOMEDCT_US:302233006", "UMLS:C0035067" ], "is_a": [ "HP:0008776", "HP:0100545" ], "is_obsolete": "", "replace_id": "" }, "HP:0001922": { "name": [ "vacuolated lymphocytes", "vacuolated lymphocyte" ], "alt_id": [ "HP:0008147", "HP:0008329" ], "def": "The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.", "synonym": [ [ "enlarged lysosomal vacuoles in lymphocytes", "enlarge lysosomal vacuole in lymphocyte" ], [ "vacuolated blood lymphocytes", "vacuolated blood lymphocyte" ] ], "xref": [ "UMLS:C1836855" ], "is_a": [ "HP:0004332" ], "is_obsolete": "", "replace_id": "" }, "HP:0001923": { "name": [ "reticulocytosis", "reticulocytosis" ], "alt_id": [], "def": "An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.", "synonym": [ [ "increased immature red blood cells", "increased immature red blood cell" ], [ "increased number of immature red blood cells", "increased number of immature red blood cell" ], [ "increased reticulocyte count", "increase reticulocyte count" ], [ "increased reticulocytes", "increase reticulocyte" ], [ "polychromasia", "polychromasia" ] ], "xref": [ "MSH:D045262", "SNOMEDCT_US:46049004", "UMLS:C0206160" ], "is_a": [ "HP:0004312" ], "is_obsolete": "", "replace_id": "" }, "HP:0001924": { "name": [ "sideroblastic anemia", "sideroblastic anemia" ], "alt_id": [ "HP:0100791" ], "def": "Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).", "synonym": [ [ "hypersideremic anaemia", "hypersideremic anaemia" ], [ "hypersideremic anemia", "hypersideremic anemia" ], [ "sideroblastic anaemia", "sideroblastic anaemia" ] ], "xref": [ "MSH:D000756", "SNOMEDCT_US:41841004", "UMLS:C0002896" ], "is_a": [ "HP:0010972" ], "is_obsolete": "", "replace_id": "" }, "HP:0001927": { "name": [ "acanthocytosis", "acanthocytosis" ], "alt_id": [ "HP:0005552" ], "def": "Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.", "synonym": [ [ "acanthocytes", "acanthocyte" ], [ "red cell acanthocytosis", "red cell acanthocytosis" ] ], "xref": [ "SNOMEDCT_US:250249008", "UMLS:C0687751" ], "is_a": [ "HP:0004447" ], "is_obsolete": "", "replace_id": "" }, "HP:0001928": { "name": [ "abnormality of coagulation", "abnormality of coagulation" ], "alt_id": [], "def": "An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.", "synonym": [ [ "abnormal blood coagulation studies", "abnormal blood coagulation study" ], [ "blood coagulation disorder", "blood coagulation disorder" ], [ "coagulation abnormalities", "coagulation abnormality" ], [ "coagulation abnormality", "coagulation abnormality" ], [ "haemorrhagic disorders", "haemorrhagic disorder" ] ], "xref": [ "MSH:D001778", "MSH:D006474", "SNOMEDCT_US:362970003", "SNOMEDCT_US:64779008", "UMLS:C0005779", "UMLS:C0019087", "UMLS:C1846821" ], "is_a": [ "HP:0001871" ], "is_obsolete": "", "replace_id": "" }, "HP:0001929": { "name": [ "reduced factor xi activity", "reduce factor xi activity" ], "alt_id": [], "def": "Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.", "synonym": [ [ "factor xi deficiency", "factor xi deficiency" ], [ "low factor xi activity", "low factor xi activity" ] ], "xref": [ "MSH:D005173", "SNOMEDCT_US:49762007", "UMLS:C0015523" ], "is_a": [ "HP:0010989" ], "is_obsolete": "", "replace_id": "" }, "HP:0001930": { "name": [ "nonspherocytic hemolytic anemia", "nonspherocytic hemolytic anemia" ], "alt_id": [], "def": "", "synonym": [ [ "nonspherocytic hemolytic anaemia", "nonspherocytic hemolytic anaemia" ] ], "xref": [ "UMLS:C4025735" ], "is_a": [ "HP:0001878" ], "is_obsolete": "", "replace_id": "" }, "HP:0001931": { "name": [ "hypochromic anemia", "hypochromic anemia" ], "alt_id": [], "def": "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.", "synonym": [ [ "hypochromic anaemia", "hypochromic anaemia" ] ], "xref": [ "MSH:D000747", "SNOMEDCT_US:44452003", "UMLS:C0002884" ], "is_a": [ "HP:0010972" ], "is_obsolete": "", "replace_id": "" }, "HP:0001933": { "name": [ "subcutaneous hemorrhage", "subcutaneous hemorrhage" ], "alt_id": [], "def": "This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).", "synonym": [ [ "bleeding below the skin", "bleed below the skin" ], [ "subcutaneous haemorrhage", "subcutaneous haemorrhage" ] ], "xref": [ "UMLS:C0854107" ], "is_a": [ "HP:0001892", "HP:0011276" ], "is_obsolete": "", "replace_id": "" }, "HP:0001934": { "name": [ "persistent bleeding after trauma", "persistent bleeding after trauma" ], "alt_id": [ "HP:0007463" ], "def": "", "synonym": [ [ "excessive bleeding after minor trauma", "excessive bleeding after minor trauma" ], [ "frequent bleeding with trauma", "frequent bleed with trauma" ], [ "prolonged bleeding after minor trauma", "prolong bleeding after minor trauma" ] ], "xref": [ "UMLS:C1844374" ], "is_a": [ "HP:0001892" ], "is_obsolete": "", "replace_id": "" }, "HP:0001935": { "name": [ "microcytic anemia", "microcytic anemia" ], "alt_id": [], "def": "A kind of anemia in which the volume of the red blood cells is reduced.", "synonym": [ [ "microcytic anaemia", "microcytic anaemia" ] ], "xref": [ "MSH:C562385", "SNOMEDCT_US:234349007", "UMLS:C0085576" ], "is_a": [ "HP:0010972" ], "is_obsolete": "", "replace_id": "" }, "HP:0001937": { "name": [ "microangiopathic hemolytic anemia", "microangiopathic hemolytic anemia" ], "alt_id": [], "def": "", "synonym": [ [ "microangiopathic hemolytic anaemia", "microangiopathic hemolytic anaemia" ] ], "xref": [ "MSH:D000743", "SNOMEDCT_US:51071000", "UMLS:C0221021" ], "is_a": [ "HP:0001878" ], "is_obsolete": "", "replace_id": "" }, "HP:0001939": { "name": [ "abnormality of metabolism / homeostasis", "abnormality of metabolism / homeostasis" ], "alt_id": [ "HP:0002146", "HP:0004355", "HP:0004367" ], "def": "", "synonym": [ [ "laboratory abnormality", "laboratory abnormality" ], [ "metabolism abnormality", "metabolism abnormality" ] ], "xref": [ "UMLS:C4021768" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0001941": { "name": [ "acidosis", "acidosis" ], "alt_id": [ "HP:0001940" ], "def": "Abnormal acid accumulation or depletion of base.", "synonym": [], "xref": [ "MSH:D000138", "SNOMEDCT_US:51387008", "UMLS:C0001122" ], "is_a": [ "HP:0004360" ], "is_obsolete": "", "replace_id": "" }, "HP:0001942": { "name": [ "metabolic acidosis", "metabolic acidosis" ], "alt_id": [ "HP:0004895", "HP:0004907" ], "def": "Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.", "synonym": [], "xref": [ "MSH:D000138", "SNOMEDCT_US:59455009", "UMLS:C0220981" ], "is_a": [ "HP:0001941" ], "is_obsolete": "", "replace_id": "" }, "HP:0001943": { "name": [ "hypoglycemia", "hypoglycemia" ], "alt_id": [ "HP:0003356" ], "def": "A decreased concentration of glucose in the blood.", "synonym": [ [ "hypoglycaemia", "hypoglycaemia" ], [ "low blood sugar", "low blood sugar" ] ], "xref": [ "MSH:D007003", "SNOMEDCT_US:237630007", "SNOMEDCT_US:271327008", "SNOMEDCT_US:302866003", "UMLS:C0020615" ], "is_a": [ "HP:0011015" ], "is_obsolete": "", "replace_id": "" }, "HP:0001944": { "name": [ "dehydration", "dehydration" ], "alt_id": [], "def": "", "synonym": [ [ "dehydration", "dehydration" ], [ "exsiccosis", "exsiccosis" ] ], "xref": [ "MSH:D003681", "SNOMEDCT_US:34095006", "UMLS:C0011175" ], "is_a": [ "HP:0011032" ], "is_obsolete": "", "replace_id": "" }, "HP:0001945": { "name": [ "fever", "fever" ], "alt_id": [], "def": "Body temperature elevated above the normal range.", "synonym": [ [ "fever", "fever" ], [ "hyperthermia", "hyperthermia" ], [ "pyrexia", "pyrexia" ] ], "xref": [ "MSH:D005334", "SNOMEDCT_US:386661006", "SNOMEDCT_US:50177009", "UMLS:C0015967" ], "is_a": [ "HP:0004370" ], "is_obsolete": "", "replace_id": "" }, "HP:0001946": { "name": [ "ketosis", "ketosis" ], "alt_id": [ "HP:0003543" ], "def": "Presence of elevated levels of ketone bodies in the body.", "synonym": [ [ "high levels of ketone bodies", "high level of ketone body" ], [ "hyperketosis", "hyperketosis" ] ], "xref": [ "MSH:D007662", "SNOMEDCT_US:213281004", "SNOMEDCT_US:2538008", "UMLS:C0022638", "UMLS:C0235430" ], "is_a": [ "HP:0001939" ], "is_obsolete": "", "replace_id": "" }, "HP:0001947": { "name": [ "renal tubular acidosis", "renal tubular acidosis" ], "alt_id": [], "def": "Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.", "synonym": [ [ "accumulation of acid in body due to kidney problem", "accumulation of acid in body due to kidney problem" ] ], "xref": [ "MSH:D000141", "SNOMEDCT_US:1776003", "UMLS:C0001126" ], "is_a": [ "HP:0000124", "HP:0001942" ], "is_obsolete": "", "replace_id": "" }, "HP:0001948": { "name": [ "alkalosis", "alkalosis" ], "alt_id": [], "def": "Depletion of acid or accumulation base in the body fluids.", "synonym": [], "xref": [ "MSH:D000471", "SNOMEDCT_US:21420006", "UMLS:C0002063" ], "is_a": [ "HP:0004360" ], "is_obsolete": "", "replace_id": "" }, "HP:0001949": { "name": [ "hypokalemic alkalosis", "hypokalemic alkalosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:22774003", "UMLS:C0085570" ], "is_a": [ "HP:0001948" ], "is_obsolete": "", "replace_id": "" }, "HP:0001950": { "name": [ "respiratory alkalosis", "respiratory alkalosis" ], "alt_id": [], "def": "Alkalosis due to excess loss of carbon dioxide from the body.", "synonym": [], "xref": [ "MSH:D000472", "SNOMEDCT_US:111378004", "UMLS:C0002064" ], "is_a": [ "HP:0001948" ], "is_obsolete": "", "replace_id": "" }, "HP:0001951": { "name": [ "episodic ammonia intoxication", "episodic ammonia intoxication" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1839541" ], "is_a": [ "HP:0004364" ], "is_obsolete": "", "replace_id": "" }, "HP:0001952": { "name": [ "glucose intolerance", "glucose intolerance" ], "alt_id": [ "HP:0000833" ], "def": "Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).", "synonym": [ [ "abnormal glucose tolerance", "abnormal glucose tolerance" ], [ "glucose intolerance", "glucose intolerance" ] ], "xref": [ "UMLS:C0235401" ], "is_a": [ "HP:0011014" ], "is_obsolete": "", "replace_id": "" }, "HP:0001953": { "name": [ "diabetic ketoacidosis", "diabetic ketoacidosis" ], "alt_id": [ "HP:0008253" ], "def": "A type of diabetic metabolic abnormality with an accumulation of ketone bodies.", "synonym": [ [ "diabetic ketosis", "diabetic ketosis" ] ], "xref": [ "MSH:D016883", "SNOMEDCT_US:420422005", "UMLS:C0011880" ], "is_a": [ "HP:0000819", "HP:0001993" ], "is_obsolete": "", "replace_id": "" }, "HP:0001954": { "name": [ "recurrent fever", "recurrent fever" ], "alt_id": [ "HP:0004903", "HP:0005962", "HP:0005966", "HP:0005980" ], "def": "Periodic (episodic or recurrent) bouts of fever.", "synonym": [ [ "episodic fever", "episodic fever" ], [ "hyperthermia , episodic", "hyperthermia , episodic" ], [ "increased body temperature , episodic", "increase body temperature , episodic" ], [ "intermittent fever", "intermittent fever" ] ], "xref": [ "SNOMEDCT_US:77957000", "UMLS:C0277799" ], "is_a": [ "HP:0001945" ], "is_obsolete": "", "replace_id": "" }, "HP:0001955": { "name": [ "unexplained fevers", "unexplained fever" ], "alt_id": [], "def": "Episodes of fever for which no infectious cause can be identified.", "synonym": [ [ "unexplained fevers", "unexplained fever" ] ], "xref": [ "UMLS:C1844662" ], "is_a": [ "HP:0001945" ], "is_obsolete": "", "replace_id": "" }, "HP:0001956": { "name": [ "truncal obesity", "truncal obesity" ], "alt_id": [ "HP:0008885" ], "def": "Obesity located preferentially in the trunk of the body as opposed to the extremities.", "synonym": [ [ "centripetal obesity", "centripetal obesity" ], [ "truncal obesity", "truncal obesity" ] ], "xref": [ "MSH:D056128", "SNOMEDCT_US:248311001", "UMLS:C0311277" ], "is_a": [ "HP:0001513" ], "is_obsolete": "", "replace_id": "" }, "HP:0001958": { "name": [ "nonketotic hypoglycemia", "nonketotic hypoglycemia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1865292" ], "is_a": [ "HP:0001943" ], "is_obsolete": "", "replace_id": "" }, "HP:0001959": { "name": [ "polydipsia", "polydipsia" ], "alt_id": [], "def": "Excessive thirst manifested by excessive fluid intake.", "synonym": [ [ "extreme thirst", "extreme thirst" ] ], "xref": [ "MSH:D059606", "SNOMEDCT_US:17173007", "SNOMEDCT_US:267026004", "UMLS:C0085602" ], "is_a": [ "HP:0030082" ], "is_obsolete": "", "replace_id": "" }, "HP:0001960": { "name": [ "hypokalemic metabolic alkalosis", "hypokalemic metabolic alkalosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C0740898" ], "is_a": [ "HP:0001949", "HP:0200114" ], "is_obsolete": "", "replace_id": "" }, "HP:0001961": { "name": [ "hypoplastic heart", "hypoplastic heart" ], "alt_id": [], "def": "", "synonym": [ [ "small heart", "small heart" ], [ "underdeveloped heart", "underdeveloped heart" ] ], "xref": [ "UMLS:C3151525" ], "is_a": [ "HP:0001627" ], "is_obsolete": "", "replace_id": "" }, "HP:0001962": { "name": [ "palpitations", "palpitation" ], "alt_id": [ "HP:0001676" ], "def": "A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.", "synonym": [ [ "heart palpitations", "heart palpitation" ], [ "missed heart beat", "missed heart beat" ], [ "palpitations", "palpitation" ], [ "skipped heart beat", "skipped heart beat" ] ], "xref": [ "SNOMEDCT_US:80313002", "UMLS:C0030252" ], "is_a": [ "HP:0011675" ], "is_obsolete": "", "replace_id": "" }, "HP:0001963": { "name": [ "abnormal speech discrimination", "abnormal speech discrimination" ], "alt_id": [], "def": "A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.", "synonym": [ [ "abnormal speech discrimination", "abnormal speech discrimination" ], [ "poor speech discrimination", "poor speech discrimination" ] ], "xref": [ "UMLS:C1836752" ], "is_a": [ "HP:0000364" ], "is_obsolete": "", "replace_id": "" }, "HP:0001964": { "name": [ "aplasia / hypoplasia of metatarsal bones", "aplasia / hypoplasia of metatarsal bone" ], "alt_id": [], "def": "Absence or underdevelopment of the metatarsal bones.", "synonym": [ [ "absent or hypoplastic metatarsal", "absent or hypoplastic metatarsal" ], [ "absent / hypoplastic metacarpals", "absent / hypoplastic metacarpal" ], [ "absent / hypoplastic metatarsals", "absent / hypoplastic metatarsal" ], [ "absent / small long bone of foot", "absent / small long bone of foot" ], [ "absent / underdeveloped long bone of foot", "absent / underdevelop long bone of foot" ], [ "aplastic / hypoplastic metatarsals", "aplastic / hypoplastic metatarsal" ] ], "xref": [ "UMLS:C1860182" ], "is_a": [ "HP:0001832", "HP:0006494" ], "is_obsolete": "", "replace_id": "" }, "HP:0001965": { "name": [ "abnormal scalp morphology", "abnormal scalp morphology" ], "alt_id": [], "def": "Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.", "synonym": [ [ "abnormality of the scalp", "abnormality of the scalp" ], [ "anomaly of scalp", "anomaly of scalp" ] ], "xref": [ "UMLS:C4025734" ], "is_a": [ "HP:0000234" ], "is_obsolete": "", "replace_id": "" }, "HP:0001966": { "name": [ "abnormal glomerular mesangium morphology", "abnormal glomerular mesangium morphology" ], "alt_id": [], "def": "An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.", "synonym": [ [ "abnormality glomerular mesangium morphology", "abnormality glomerular mesangium morphology" ], [ "abnormality of the glomerular mesangium", "abnormality of the glomerular mesangium" ], [ "mesangial abnormality", "mesangial abnormality" ] ], "xref": [ "UMLS:C4025733" ], "is_a": [ "HP:0000095" ], "is_obsolete": "", "replace_id": "" }, "HP:0001967": { "name": [ "diffuse mesangial sclerosis", "diffuse mesangial sclerosis" ], "alt_id": [ "HP:0004728" ], "def": "Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.", "synonym": [ [ "diffuse mesangial sclerosis glomerulopathy", "diffuse mesangial sclerosis glomerulopathy" ], [ "mesangial sclerosis", "mesangial sclerosis" ] ], "xref": [ "MSH:C537346", "SNOMEDCT_US:111406002", "UMLS:C0268747" ], "is_a": [ "HP:0001966" ], "is_obsolete": "", "replace_id": "" }, "HP:0001969": { "name": [ "abnormal tubulointerstitial morphology", "abnormal tubulointerstitial morphology" ], "alt_id": [ "HP:0008654" ], "def": "An abnormality that involves the tubules and interstitial tissue of the kidney.", "synonym": [ [ "tubulointerstitial abnormality", "tubulointerstitial abnormality" ], [ "tubulointerstitial nephropathy", "tubulointerstitial nephropathy" ] ], "xref": [ "MSH:D009395", "SNOMEDCT_US:28689008", "SNOMEDCT_US:428255004", "UMLS:C0041349", "UMLS:C4025732" ], "is_a": [ "HP:0000091", "HP:0032581" ], "is_obsolete": "", "replace_id": "" }, "HP:0001970": { "name": [ "tubulointerstitial nephritis", "tubulointerstitial nephritis" ], "alt_id": [], "def": "A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.", "synonym": [ [ "interstitial nephritis", "interstitial nephritis" ], [ "nephritis , tubulointerstitial", "nephritis , tubulointerstitial" ] ], "xref": [ "MSH:D009395", "SNOMEDCT_US:28689008", "SNOMEDCT_US:428255004", "UMLS:C0041349" ], "is_a": [ "HP:0001969" ], "is_obsolete": "", "replace_id": "" }, "HP:0001971": { "name": [ "hypersplenism", "hypersplenism" ], "alt_id": [], "def": "A malfunctioning of the spleen in which it prematurely destroys red blood cells.", "synonym": [], "xref": [ "MSH:D006971", "SNOMEDCT_US:58381000", "UMLS:C0020532" ], "is_a": [ "HP:0025409" ], "is_obsolete": "", "replace_id": "" }, "HP:0001972": { "name": [ "macrocytic anemia", "macrocytic anemia" ], "alt_id": [], "def": "A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).", "synonym": [ [ "macrocytic anaemia", "macrocytic anaemia" ] ], "xref": [ "MSH:D000748", "SNOMEDCT_US:83414005", "UMLS:C0002886" ], "is_a": [ "HP:0010972" ], "is_obsolete": "", "replace_id": "" }, "HP:0001973": { "name": [ "autoimmune thrombocytopenia", "autoimmune thrombocytopenia" ], "alt_id": [ "HP:0001936", "HP:0004806", "HP:0004829" ], "def": "The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.", "synonym": [ [ "idiopathic thrombocytopenia", "idiopathic thrombocytopenia" ], [ "idiopathic thrombocytopenic purpura", "idiopathic thrombocytopenic purpura" ], [ "immune thrombocytopenia", "immune thrombocytopenia" ] ], "xref": [ "MSH:D016553", "SNOMEDCT_US:128091003", "SNOMEDCT_US:13172003", "SNOMEDCT_US:234490009", "SNOMEDCT_US:32273002", "UMLS:C0242584", "UMLS:C0398650", "UMLS:C0920163" ], "is_a": [ "HP:0001873", "HP:0002960" ], "is_obsolete": "", "replace_id": "" }, "HP:0001974": { "name": [ "leukocytosis", "leukocytosis" ], "alt_id": [], "def": "An abnormal increase in the number of leukocytes in the blood.", "synonym": [ [ "elevated white blood count", "elevate white blood count" ], [ "high white blood count", "high white blood count" ], [ "increased blood leukocyte number", "increase blood leukocyte number" ] ], "xref": [ "MSH:D007964", "SNOMEDCT_US:111583006", "UMLS:C0023518" ], "is_a": [ "HP:0011893" ], "is_obsolete": "", "replace_id": "" }, "HP:0001975": { "name": [ "decreased platelet glycoprotein iib - iiia", "decrease platelet glycoprotein iib - iiia" ], "alt_id": [], "def": "Decreased cell membrane concentration of glycoprotein IIb-IIIa.", "synonym": [ [ "glanzmann thrombasthenia", "glanzmann thrombasthenia" ], [ "reduced level of platelet glycoprotein iib / iiia complex", "reduce level of platelet glycoprotein iib / iiia complex" ] ], "xref": [ "MSH:D013915", "SNOMEDCT_US:32942005", "UMLS:C0040015", "UMLS:C4021767" ], "is_a": [ "HP:0011878" ], "is_obsolete": "", "replace_id": "" }, "HP:0001976": { "name": [ "reduced antithrombin iii activity", "reduce antithrombin iii activity" ], "alt_id": [], "def": "An abnormality of coagulation related to a decreased concentration of antithrombin-III.", "synonym": [ [ "anti - thrombin iii deficiency", "anti - thrombin iii deficiency" ], [ "antithrombin iii deficiency", "antithrombin iii deficiency" ], [ "decreased antithrombin iii", "decrease antithrombin iii" ] ], "xref": [ "MSH:D020152", "SNOMEDCT_US:36351005", "UMLS:C0272375" ], "is_a": [ "HP:0010988", "HP:0010989" ], "is_obsolete": "", "replace_id": "" }, "HP:0001977": { "name": [ "abnormal thrombosis", "abnormal thrombosis" ], "alt_id": [], "def": "Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).", "synonym": [ [ "abnormal blood clot", "abnormal blood clot" ], [ "abnormal blood clotting", "abnormal blood clotting" ] ], "xref": [ "UMLS:C4025731" ], "is_a": [ "HP:0001871" ], "is_obsolete": "", "replace_id": "" }, "HP:0001978": { "name": [ "extramedullary hematopoiesis", "extramedullary hematopoiesis" ], "alt_id": [ "HP:0004847" ], "def": "The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.", "synonym": [ [ "extramedullary erythropoiesis", "extramedullary erythropoiesis" ] ], "xref": [ "SNOMEDCT_US:124958002", "SNOMEDCT_US:42952007", "UMLS:C1292120", "UMLS:C2613439" ], "is_a": [ "HP:0001871" ], "is_obsolete": "", "replace_id": "" }, "HP:0001980": { "name": [ "megaloblastic bone marrow", "megaloblastic bone marrow" ], "alt_id": [], "def": "Abnormal increased number of megaloblasts in the bone marrow.", "synonym": [], "xref": [ "SNOMEDCT_US:167921008", "UMLS:C0238801" ], "is_a": [ "HP:0012145" ], "is_obsolete": "", "replace_id": "" }, "HP:0001981": { "name": [ "schistocytosis", "schistocytosis" ], "alt_id": [], "def": "The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.", "synonym": [ [ "schistocytes", "schistocytes" ] ], "xref": [ "SNOMEDCT_US:385472000", "UMLS:C0344386" ], "is_a": [ "HP:0004447" ], "is_obsolete": "", "replace_id": "" }, "HP:0001982": { "name": [ "sea - blue histiocytosis", "sea - blue histiocytosis" ], "alt_id": [], "def": "An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.", "synonym": [ [ "'sea blue ' histiocytes", "'sea blue ' histiocyte" ], [ "sea - blue histiocyte", "sea - blue histiocyte" ] ], "xref": [ "MSH:D012618", "SNOMEDCT_US:37821003", "UMLS:C0036489" ], "is_a": [ "HP:0004311" ], "is_obsolete": "", "replace_id": "" }, "HP:0001983": { "name": [ "reduced lymphocyte surface expression of cd43", "reduce lymphocyte surface expression of cd43" ], "alt_id": [], "def": "A reduction in the expression of CD43 on the cell surface of lymphocytes.", "synonym": [ [ "cd43 defectively expressed on surface of blood cells", "cd43 defectively express on surface of blood cell" ], [ "reduced lymphocyte surface expression of sialophorin", "reduce lymphocyte surface expression of sialophorin" ] ], "xref": [ "UMLS:C4021766" ], "is_a": [ "HP:0031383" ], "is_obsolete": "", "replace_id": "" }, "HP:0001984": { "name": [ "intolerance to protein", "intolerance to protein" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1396243" ], "is_a": [ "HP:0012537" ], "is_obsolete": "", "replace_id": "" }, "HP:0001985": { "name": [ "hypoketotic hypoglycemia", "hypoketotic hypoglycemia" ], "alt_id": [ "HP:0005969" ], "def": "A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.", "synonym": [ [ "hypoglycemia , hypoketotic", "hypoglycemia , hypoketotic" ] ], "xref": [ "UMLS:C1856438" ], "is_a": [ "HP:0001943" ], "is_obsolete": "", "replace_id": "" }, "HP:0001986": { "name": [ "hypertonic dehydration", "hypertonic dehydration" ], "alt_id": [], "def": "", "synonym": [ [ "hyperosmolar dehydration", "hyperosmolar dehydration" ] ], "xref": [ "UMLS:C1112601" ], "is_a": [ "HP:0001944" ], "is_obsolete": "", "replace_id": "" }, "HP:0001987": { "name": [ "hyperammonemia", "hyperammonemia" ], "alt_id": [ "HP:0008308", "HP:0008334" ], "def": "An increased concentration of ammonia in the blood.", "synonym": [ [ "high blood ammonia levels", "high blood ammonia level" ] ], "xref": [ "MSH:D022124", "SNOMEDCT_US:9360008", "UMLS:C0220994" ], "is_a": [ "HP:0002157" ], "is_obsolete": "", "replace_id": "" }, "HP:0001988": { "name": [ "recurrent hypoglycemia", "recurrent hypoglycemia" ], "alt_id": [], "def": "Recurrent episodes of decreased concentration of glucose in the blood.", "synonym": [ [ "hypoglycaemia , recurrent", "hypoglycaemia , recurrent" ], [ "hypoglycemia , recurrent", "hypoglycemia , recurrent" ], [ "hypoglycemic episodes", "hypoglycemic episode" ], [ "recurrent hypoglycaemia", "recurrent hypoglycaemia" ], [ "recurrent hypoglycemic episodes", "recurrent hypoglycemic episode" ], [ "recurrent low blood sugar levels", "recurrent low blood sugar level" ] ], "xref": [ "UMLS:C1846288" ], "is_a": [ "HP:0001943" ], "is_obsolete": "", "replace_id": "" }, "HP:0001989": { "name": [ "fetal akinesia sequence", "fetal akinesia sequence" ], "alt_id": [], "def": "Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).", "synonym": [ [ "early severe fetal akinesia sequence", "early severe fetal akinesia sequence" ], [ "early severe foetal akinesia sequence", "early severe foetal akinesia sequence" ], [ "fetal akinesia", "fetal akinesia" ], [ "foetal akinesia", "foetal akinesia" ], [ "foetal akinesia sequence", "foetal akinesia sequence" ] ], "xref": [ "MSH:C536647", "SNOMEDCT_US:401138005", "UMLS:C1276035", "UMLS:C3151520" ], "is_a": [ "HP:0001558" ], "is_obsolete": "", "replace_id": "" }, "HP:0001991": { "name": [ "aplasia / hypoplasia of toe", "aplasia / hypoplasia of toe" ], "alt_id": [], "def": "Absence or hypoplasia of toes.", "synonym": [ [ "absent / hypoplastic toes", "absent / hypoplastic toe" ], [ "absent / small toe", "absent / small toe" ], [ "absent / underdeveloped toe", "absent / underdevelop toe" ], [ "aplastic / hypoplastic toe phalanges", "aplastic / hypoplastic toe phalanx" ] ], "xref": [ "UMLS:C3551148" ], "is_a": [ "HP:0001780", "HP:0006494" ], "is_obsolete": "", "replace_id": "" }, "HP:0001992": { "name": [ "organic aciduria", "organic aciduria" ], "alt_id": [], "def": "Excretion of non-amino organic acids in urine.", "synonym": [], "xref": [ "UMLS:C0241775" ], "is_a": [ "HP:0012072" ], "is_obsolete": "", "replace_id": "" }, "HP:0001993": { "name": [ "ketoacidosis", "ketoacidosis" ], "alt_id": [], "def": "Acidosis resulting from accumulation of ketone bodies.", "synonym": [], "xref": [ "SNOMEDCT_US:56051008", "UMLS:C0220982" ], "is_a": [ "HP:0001941", "HP:0001946" ], "is_obsolete": "", "replace_id": "" }, "HP:0001994": { "name": [ "renal fanconi syndrome", "renal fanconi syndrome" ], "alt_id": [], "def": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", "synonym": [ [ "'de toni - fanconi - debre ' syndrome", "'de toni - fanconi - debre ' syndrome" ], [ "renal tubular fanconi syndrome", "renal tubular fanconi syndrome" ] ], "xref": [ "MSH:D005198", "SNOMEDCT_US:236468006", "SNOMEDCT_US:44673006", "UMLS:C0341703" ], "is_a": [ "HP:0001947", "HP:0011038" ], "is_obsolete": "", "replace_id": "" }, "HP:0001995": { "name": [ "hyperchloremic acidosis", "hyperchloremic acidosis" ], "alt_id": [], "def": "Acidosis (pH less than 7.35) that develops with an increase in ionic chloride.", "synonym": [], "xref": [ "SNOMEDCT_US:18104000", "UMLS:C0085569" ], "is_a": [ "HP:0001941" ], "is_obsolete": "", "replace_id": "" }, "HP:0001996": { "name": [ "chronic metabolic acidosis", "chronic metabolic acidosis" ], "alt_id": [], "def": "Longstanding metabolic acidosis.", "synonym": [], "xref": [ "UMLS:C0740749" ], "is_a": [ "HP:0001942", "HP:0012468" ], "is_obsolete": "", "replace_id": "" }, "HP:0001997": { "name": [ "gout", "gout" ], "alt_id": [ "HP:0001368" ], "def": "Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.", "synonym": [ [ "gouty arthritis", "gouty arthritis" ] ], "xref": [ "MSH:D006073", "MSH:D015210", "SNOMEDCT_US:170733007", "SNOMEDCT_US:190828008", "SNOMEDCT_US:48440001", "SNOMEDCT_US:90560007", "UMLS:C0003868", "UMLS:C0018099" ], "is_a": [ "HP:0001369" ], "is_obsolete": "", "replace_id": "" }, "HP:0001998": { "name": [ "neonatal hypoglycemia", "neonatal hypoglycemia" ], "alt_id": [], "def": "", "synonym": [ [ "low blood sugar in newborn", "low blood sugar in newborn" ] ], "xref": [ "SNOMEDCT_US:52767006", "UMLS:C0158986" ], "is_a": [ "HP:0001943" ], "is_obsolete": "", "replace_id": "" }, "HP:0001999": { "name": [ "abnormal facial shape", "abnormal facial shape" ], "alt_id": [ "HP:0002004", "HP:0002260", "HP:0004643", "HP:0004649", "HP:0004652", "HP:0004655", "HP:0004675", "HP:0005124" ], "def": "An abnormal morphology (form) of the face or its components.", "synonym": [ [ "abnormal facial shape", "abnormal facial shape" ], [ "abnormal morphology of the face", "abnormal morphology of the face" ], [ "deformity of face", "deformity of face" ], [ "distinctive facies", "distinctive facies" ], [ "distortion of face", "distortion of face" ], [ "dysmorphic facial features", "dysmorphic facial feature" ], [ "dysmorphic facies", "dysmorphic facies" ], [ "facial dysmorphism", "facial dysmorphism" ], [ "funny looking face", "funny look face" ], [ "malformation of face", "malformation of face" ], [ "unusual facial appearance", "unusual facial appearance" ], [ "unusual facies", "unusual facies" ] ], "xref": [ "SNOMEDCT_US:248200007", "SNOMEDCT_US:32003007", "SNOMEDCT_US:398206004", "SNOMEDCT_US:398302004", "UMLS:C0266617", "UMLS:C0424503", "UMLS:C1385263", "UMLS:C4072832", "UMLS:C4072833" ], "is_a": [ "HP:0000271" ], "is_obsolete": "", "replace_id": "" }, "HP:0002000": { "name": [ "short columella", "short columella" ], "alt_id": [], "def": "Reduced distance from the anterior border of the naris to the subnasale.", "synonym": [ [ "columella , short", "columella , short" ], [ "decreased length of columella", "decreased length of columella" ], [ "hypoplasia of columella", "hypoplasia of columella" ] ], "xref": [ "UMLS:C1857479", "UMLS:C4280585" ], "is_a": [ "HP:0009929" ], "is_obsolete": "", "replace_id": "" }, "HP:0002002": { "name": [ "deep philtrum", "deep philtrum" ], "alt_id": [ "HP:0000305", "HP:0004654" ], "def": "Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.", "synonym": [ [ "depressed philtrum", "depressed philtrum" ], [ "increased depth of philtrum", "increase depth of philtrum" ], [ "philtrum , deep", "philtrum , deep" ], [ "prominent philtrum", "prominent philtrum" ], [ "pronounced philtrum", "pronounce philtrum" ] ], "xref": [ "UMLS:C1839797", "UMLS:C4020861" ], "is_a": [ "HP:0000288" ], "is_obsolete": "", "replace_id": "" }, "HP:0002003": { "name": [ "large forehead", "large forehead" ], "alt_id": [], "def": "", "synonym": [ [ "hyperplasia of forehead", "hyperplasia of forehead" ], [ "hypertrophy of forehead", "hypertrophy of forehead" ], [ "increased size of forehead", "increase size of forehead" ], [ "increased size of frontal region of face", "increase size of frontal region of face" ], [ "large forehead", "large forehead" ] ], "xref": [ "UMLS:C1839783", "UMLS:C4280583", "UMLS:C4280584" ], "is_a": [ "HP:0000290" ], "is_obsolete": "", "replace_id": "" }, "HP:0002006": { "name": [ "facial cleft", "facial cleft" ], "alt_id": [], "def": "A congenital malformation with a cleft (gap or opening) in the face.", "synonym": [ [ "cleft of the face", "cleft of the face" ], [ "facial cleft", "facial cleft" ], [ "facial clefts", "facial cleft" ], [ "tessier facial cleft", "tessier facial cleft" ] ], "xref": [ "SNOMEDCT_US:92821006", "UMLS:C0685787" ], "is_a": [ "HP:0000271" ], "is_obsolete": "", "replace_id": "" }, "HP:0002007": { "name": [ "frontal bossing", "frontal bossing" ], "alt_id": [ "HP:0000254", "HP:0000333", "HP:0001358", "HP:0001359" ], "def": "Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.", "synonym": [ [ "frontal protruberance", "frontal protruberance" ], [ "skull bossing", "skull bossing" ] ], "xref": [ "SNOMEDCT_US:90145001", "UMLS:C0221354" ], "is_a": [ "HP:0000290", "HP:0011218" ], "is_obsolete": "", "replace_id": "" }, "HP:0002009": { "name": [ "potter facies", "potter facies" ], "alt_id": [], "def": "A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.", "synonym": [], "xref": [ "SNOMEDCT_US:24814002", "UMLS:C0266619" ], "is_a": [ "HP:0011334" ], "is_obsolete": "", "replace_id": "" }, "HP:0002010": { "name": [ "narrow maxilla", "narrow maxilla" ], "alt_id": [], "def": "", "synonym": [ [ "decreased breadth of upper jaw bones", "decrease breadth of upper jaw bone" ], [ "decreased transverse dimension of maxilla", "decreased transverse dimension of maxilla" ], [ "decreased width of maxilla", "decrease width of maxilla" ], [ "decreased width of upper jaw bones", "decrease width of upper jaw bone" ], [ "narrow upper jaw bones", "narrow upper jaw bone" ], [ "transverse hypoplasia of maxilla", "transverse hypoplasia of maxilla" ], [ "transverse maxillary deficiency", "transverse maxillary deficiency" ], [ "transverse maxillary insufficiency", "transverse maxillary insufficiency" ] ], "xref": [ "UMLS:C1851835" ], "is_a": [ "HP:0000326" ], "is_obsolete": "", "replace_id": "" }, "HP:0002011": { "name": [ "morphological central nervous system abnormality", "morphological central nervous system abnormality" ], "alt_id": [ "HP:0002405", "HP:0002413", "HP:0002481", "HP:0007319" ], "def": "A structural abnormality of the central nervous system.", "synonym": [ [ "abnormality of the central nervous system", "abnormality of the central nervous system" ], [ "central nervous system disease", "central nervous system disease" ], [ "morphological abnormality of the central nervous system", "morphological abnormality of the central nervous system" ], [ "morphological abnormality of the cns", "morphological abnormality of the cns" ] ], "xref": [ "MSH:D002493", "SNOMEDCT_US:23853001", "UMLS:C0007682", "UMLS:C4021765" ], "is_a": [ "HP:0012639" ], "is_obsolete": "", "replace_id": "" }, "HP:0002012": { "name": [ "abnormality of the abdominal organs", "abnormality of the abdominal organ" ], "alt_id": [], "def": "An abnormality of the viscera of the abdomen.", "synonym": [ [ "abnormality of the abdominal organs", "abnormality of the abdominal organ" ], [ "gastrointestinal tract defects", "gastrointestinal tract defect" ] ], "xref": [ "UMLS:C4021764" ], "is_a": [ "HP:0025031" ], "is_obsolete": "", "replace_id": "" }, "HP:0002013": { "name": [ "vomiting", "vomit" ], "alt_id": [], "def": "Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.", "synonym": [ [ "emesis", "emesis" ], [ "throwing up", "throw up" ], [ "vomiting", "vomit" ] ], "xref": [ "MEDDRA:10047700 \"Vomiting\"", "MSH:D014839", "SNOMEDCT_US:249497008", "SNOMEDCT_US:300359004", "SNOMEDCT_US:422400008", "UMLS:C0042963" ], "is_a": [ "HP:0002017" ], "is_obsolete": "", "replace_id": "" }, "HP:0002014": { "name": [ "diarrhea", "diarrhea" ], "alt_id": [], "def": "Abnormally increased frequency of loose or watery bowel movements.", "synonym": [ [ "diarrhea", "diarrhea" ], [ "diarrhoea", "diarrhoea" ], [ "watery stool", "watery stool" ] ], "xref": [ "MSH:D003967", "SNOMEDCT_US:267060006", "SNOMEDCT_US:62315008", "UMLS:C0011991" ], "is_a": [ "HP:0011458" ], "is_obsolete": "", "replace_id": "" }, "HP:0002015": { "name": [ "dysphagia", "dysphagia" ], "alt_id": [ "HP:0002569" ], "def": "Difficulty in swallowing.", "synonym": [ [ "deglutition disorder", "deglutition disorder" ], [ "difficulty swallowing", "difficulty swallow" ], [ "poor swallowing", "poor swallowing" ], [ "swallowing difficulties", "swallow difficulty" ], [ "swallowing difficulty", "swallow difficulty" ] ], "xref": [ "MEDDRA:10013950 \"Dysphagia\"", "MSH:D003680", "SNOMEDCT_US:288939007", "SNOMEDCT_US:40739000", "UMLS:C0011168" ], "is_a": [ "HP:0012638", "HP:0025270" ], "is_obsolete": "", "replace_id": "" }, "HP:0002017": { "name": [ "nausea and vomiting", "nausea and vomiting" ], "alt_id": [], "def": "Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.", "synonym": [ [ "nausea and vomiting", "nausea and vomiting" ] ], "xref": [ "SNOMEDCT_US:16932000", "UMLS:C0027498" ], "is_a": [ "HP:0011458" ], "is_obsolete": "", "replace_id": "" }, "HP:0002018": { "name": [ "nausea", "nausea" ], "alt_id": [], "def": "A sensation of unease in the stomach together with an urge to vomit.", "synonym": [ [ "nausea", "nausea" ] ], "xref": [ "MEDDRA:10028813 \"Nausea\"", "MSH:D009325", "SNOMEDCT_US:422587007", "UMLS:C0027497" ], "is_a": [ "HP:0002017" ], "is_obsolete": "", "replace_id": "" }, "HP:0002019": { "name": [ "constipation", "constipation" ], "alt_id": [ "HP:0002241", "HP:0003786" ], "def": "Infrequent or difficult evacuation of feces.", "synonym": [ [ "constipation", "constipation" ], [ "costiveness", "costiveness" ], [ "dyschezia", "dyschezia" ] ], "xref": [ "MSH:D003248", "SNOMEDCT_US:14760008", "SNOMEDCT_US:225595004", "UMLS:C0009806", "UMLS:C0237326" ], "is_a": [ "HP:0011458" ], "is_obsolete": "", "replace_id": "" }, "HP:0002020": { "name": [ "gastroesophageal reflux", "gastroesophageal reflux" ], "alt_id": [ "HP:0004793" ], "def": "A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.", "synonym": [ [ "acid reflux", "acid reflux" ], [ "acid reflux disease", "acid reflux disease" ], [ "gastro - esophageal reflux", "gastro - esophageal reflux" ], [ "gastro - oesophageal reflux", "gastro - oesophageal reflux" ], [ "gastroesophageal reflux disease", "gastroesophageal reflux disease" ], [ "heartburn", "heartburn" ] ], "xref": [ "MSH:D005764", "MSH:D006356", "SNOMEDCT_US:16331000", "SNOMEDCT_US:235595009", "SNOMEDCT_US:698065002", "UMLS:C0017168", "UMLS:C0018834" ], "is_a": [ "HP:0025270" ], "is_obsolete": "", "replace_id": "" }, "HP:0002021": { "name": [ "pyloric stenosis", "pyloric stenosis" ], "alt_id": [], "def": "An abnormal narrowing of the pylorus.", "synonym": [], "xref": [ "Fyler:4444", "MEDDRA:10037621 \"Pyloric stenosis\"", "MSH:D011707", "SNOMEDCT_US:367403001", "UMLS:C0034194" ], "is_a": [ "HP:0004400" ], "is_obsolete": "", "replace_id": "" }, "HP:0002023": { "name": [ "anal atresia", "anal atresia" ], "alt_id": [ "HP:0001550" ], "def": "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.", "synonym": [ [ "absent anus", "absent anus" ], [ "imperforate anus", "imperforate anus" ] ], "xref": [ "Fyler:4402", "Fyler:4443", "MEDDRA:10002120 \"Anal atresia\"", "MSH:D001006", "SNOMEDCT_US:204712000", "SNOMEDCT_US:204731006", "UMLS:C0003466" ], "is_a": [ "HP:0004378" ], "is_obsolete": "", "replace_id": "" }, "HP:0002024": { "name": [ "malabsorption", "malabsorption" ], "alt_id": [ "HP:0008270" ], "def": "Impaired ability to absorb one or more nutrients from the intestine.", "synonym": [ [ "intestinal malabsorption", "intestinal malabsorption" ], [ "malabsorption", "malabsorption" ] ], "xref": [ "UMLS:C3714745" ], "is_a": [ "HP:0002242" ], "is_obsolete": "", "replace_id": "" }, "HP:0002025": { "name": [ "anal stenosis", "anal stenosis" ], "alt_id": [], "def": "Abnormal narrowing of the anal opening.", "synonym": [ [ "narrowing of anal opening", "narrowing of anal opening" ] ], "xref": [ "MEDDRA:10002176 \"Anal stenosis\"", "SNOMEDCT_US:250037002", "SNOMEDCT_US:69914001", "UMLS:C0262374" ], "is_a": [ "HP:0004378" ], "is_obsolete": "", "replace_id": "" }, "HP:0002027": { "name": [ "abdominal pain", "abdominal pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.", "synonym": [ [ "abdominal discomfort", "abdominal discomfort" ], [ "abdominal pain", "abdominal pain" ], [ "gastro pain", "gastro pain" ], [ "gastrointestinal pain", "gastrointestinal pain" ], [ "pain in stomach", "pain in stomach" ], [ "stomach pain", "stomach pain" ], [ "upset stomach", "upset stomach" ] ], "xref": [ "MEDDRA:10000081 \"Abdominal pain\"", "MSH:D015746", "SNOMEDCT_US:21522001", "UMLS:C0000737" ], "is_a": [ "HP:0011458", "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0002028": { "name": [ "chronic diarrhea", "chronic diarrhea" ], "alt_id": [], "def": "The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.", "synonym": [ [ "chronic diarrhea", "chronic diarrhea" ], [ "chronic diarrhoea", "chronic diarrhoea" ], [ "diarrhea , recurrent", "diarrhea , recurrent" ], [ "recurrent diarrhea", "recurrent diarrhea" ], [ "recurrent diarrhoea", "recurrent diarrhoea" ] ], "xref": [ "SNOMEDCT_US:236071009", "UMLS:C0401151" ], "is_a": [ "HP:0002014" ], "is_obsolete": "", "replace_id": "" }, "HP:0002031": { "name": [ "abnormal esophagus morphology", "abnormal esophagus morphology" ], "alt_id": [], "def": "A structural abnormality of the esophagus.", "synonym": [ [ "abnormal oesophagus morphology", "abnormal oesophagus morphology" ], [ "abnormality of esophagus structure", "abnormality of esophagus structure" ], [ "abnormality of oesophagus structure", "abnormality of oesophagus structure" ], [ "anomaly of the esophagus", "anomaly of the esophagus" ], [ "anomaly of the oesophagus", "anomaly of the oesophagus" ] ], "xref": [ "SNOMEDCT_US:69771008", "UMLS:C0266126" ], "is_a": [ "HP:0012718" ], "is_obsolete": "", "replace_id": "" }, "HP:0002032": { "name": [ "esophageal atresia", "esophageal atresia" ], "alt_id": [], "def": "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.", "synonym": [ [ "birth defect in which part of esophagus did not develop", "birth defect in which part of esophagus do not develop" ], [ "birth defect in which part of oesophagus did not develop", "birth defect in which part of oesophagus do not develop" ] ], "xref": [ "Fyler:4412", "MSH:D004933", "SNOMEDCT_US:26179002", "UMLS:C0014850" ], "is_a": [ "HP:0002031", "HP:0002589" ], "is_obsolete": "", "replace_id": "" }, "HP:0002033": { "name": [ "poor suck", "poor suck" ], "alt_id": [], "def": "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.", "synonym": [ [ "poor suck", "poor suck" ], [ "poor sucking", "poor sucking" ], [ "sucking weakness", "suck weakness" ] ], "xref": [ "UMLS:C1837142" ], "is_a": [ "HP:0008872" ], "is_obsolete": "", "replace_id": "" }, "HP:0002034": { "name": [ "abnormal rectum morphology", "abnormal rectum morphology" ], "alt_id": [], "def": "An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.", "synonym": [ [ "abnormality of the rectum", "abnormality of the rectum" ], [ "anomaly of the rectum", "anomaly of the rectum" ] ], "xref": [ "SNOMEDCT_US:86993003", "UMLS:C0266210" ], "is_a": [ "HP:0002250", "HP:0012732" ], "is_obsolete": "", "replace_id": "" }, "HP:0002035": { "name": [ "rectal prolapse", "rectal prolapse" ], "alt_id": [], "def": "Protrusion of the rectal mucous membrane through the anus.", "synonym": [ [ "rectal prolapsed", "rectal prolapse" ], [ "rectum protrudes through anus", "rectum protrudes through anus" ] ], "xref": [ "MEDDRA:10038077 \"Rectal prolapse\"", "MSH:D012005", "SNOMEDCT_US:57773001", "UMLS:C0034888" ], "is_a": [ "HP:0002034" ], "is_obsolete": "", "replace_id": "" }, "HP:0002036": { "name": [ "hiatus hernia", "hiatus hernia" ], "alt_id": [], "def": "The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.", "synonym": [ [ "hiatal hernia", "hiatal hernia" ], [ "stomach hernia", "stomach hernia" ] ], "xref": [ "MEDDRA:10020028 \"Hiatus hernia\"", "MSH:D006551", "SNOMEDCT_US:84089009", "UMLS:C3489393" ], "is_a": [ "HP:0002577", "HP:0100790" ], "is_obsolete": "", "replace_id": "" }, "HP:0002037": { "name": [ "inflammation of the large intestine", "inflammation of the large intestine" ], "alt_id": [], "def": "Inflammation, or an inflammatory state in the large intestine.", "synonym": [ [ "inflammation of the large intestine", "inflammation of the large intestine" ], [ "inflammatory bowel disease", "inflammatory bowel disease" ] ], "xref": [ "MSH:D015212", "SNOMEDCT_US:24526004", "SNOMEDCT_US:302168000", "UMLS:C0021390", "UMLS:C0578878" ], "is_a": [ "HP:0002250", "HP:0004386" ], "is_obsolete": "", "replace_id": "" }, "HP:0002038": { "name": [ "protein avoidance", "protein avoidance" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1839531" ], "is_a": [ "HP:0011458" ], "is_obsolete": "", "replace_id": "" }, "HP:0002039": { "name": [ "anorexia", "anorexia" ], "alt_id": [], "def": "A lack or loss of appetite for food (as a medical condition).", "synonym": [ [ "anorexia", "anorexia" ] ], "xref": [ "MSH:D000855", "SNOMEDCT_US:79890006", "UMLS:C0003123" ], "is_a": [ "HP:0011458" ], "is_obsolete": "", "replace_id": "" }, "HP:0002040": { "name": [ "esophageal varix", "esophageal varix" ], "alt_id": [], "def": "Extreme dilation of the submucusoal veins in the lower portion of the esophagus.", "synonym": [ [ "enlarged vein in esophagus", "enlarge vein in esophagus" ], [ "enlarged vein in oesophagus", "enlarge vein in oesophagus" ], [ "esophageal varices", "esophageal varix" ] ], "xref": [ "MEDDRA:10056091 \"Varices oesophageal\"", "MSH:D004932", "SNOMEDCT_US:28670008", "UMLS:C0014867" ], "is_a": [ "HP:0002031" ], "is_obsolete": "", "replace_id": "" }, "HP:0002041": { "name": [ "intractable diarrhea", "intractable diarrhea" ], "alt_id": [], "def": "", "synonym": [ [ "intractable diarrhoea", "intractable diarrhoea" ] ], "xref": [ "UMLS:C0743178" ], "is_a": [ "HP:0002014" ], "is_obsolete": "", "replace_id": "" }, "HP:0002043": { "name": [ "esophageal stricture", "esophageal stricture" ], "alt_id": [], "def": "A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.", "synonym": [ [ "narrowing of esophagus due to inflammation and scar tissue", "narrowing of esophagus due to inflammation and scar tissue" ], [ "narrowing of oesophagus due to inflammation and scar tissue", "narrowing of oesophagus due to inflammation and scar tissue" ] ], "xref": [ "MSH:D004940", "SNOMEDCT_US:63305008", "UMLS:C0014866" ], "is_a": [ "HP:0010450" ], "is_obsolete": "", "replace_id": "" }, "HP:0002044": { "name": [ "zollinger - ellison syndrome", "zollinger - ellison syndrome" ], "alt_id": [], "def": "A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration.", "synonym": [], "xref": [ "MEDDRA:10048281 \"Zollinger-Ellison syndrome\"", "MSH:D015043", "SNOMEDCT_US:53132006", "UMLS:C0043515" ], "is_a": [ "HP:0007378" ], "is_obsolete": "", "replace_id": "" }, "HP:0002045": { "name": [ "hypothermia", "hypothermia" ], "alt_id": [], "def": "Reduced body temperature due to failed thermoregulation.", "synonym": [ [ "abnormally low body temperature", "abnormally low body temperature" ], [ "hypothermia", "hypothermia" ] ], "xref": [ "MSH:D007035", "SNOMEDCT_US:386689009", "UMLS:C0020672" ], "is_a": [ "HP:0004370" ], "is_obsolete": "", "replace_id": "" }, "HP:0002046": { "name": [ "heat intolerance", "heat intolerance" ], "alt_id": [], "def": "The inability to maintain a comfortable body temperature in warm or hot weather.", "synonym": [ [ "heat intolerance", "heat intolerance" ], [ "intolerance to heat and fevers", "intolerance to heat and fever" ] ], "xref": [ "SNOMEDCT_US:69215007", "UMLS:C0231274" ], "is_a": [ "HP:0004370" ], "is_obsolete": "", "replace_id": "" }, "HP:0002047": { "name": [ "malignant hyperthermia", "malignant hyperthermia" ], "alt_id": [ "HP:0004896" ], "def": "Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.", "synonym": [ [ "malignant hyperthermia with anaesthesia", "malignant hyperthermia with anaesthesia" ], [ "malignant hyperthermia with anesthesia", "malignant hyperthermia with anesthesia" ] ], "xref": [ "MSH:D008305", "SNOMEDCT_US:213026003", "SNOMEDCT_US:405501007", "UMLS:C0024591" ], "is_a": [ "HP:0004370" ], "is_obsolete": "", "replace_id": "" }, "HP:0002048": { "name": [ "renal cortical atrophy", "renal cortical atrophy" ], "alt_id": [], "def": "Atrophy of the cortex of the kidney.", "synonym": [], "xref": [ "UMLS:C4025730" ], "is_a": [ "HP:0011035", "HP:0012585" ], "is_obsolete": "", "replace_id": "" }, "HP:0002049": { "name": [ "proximal renal tubular acidosis", "proximal renal tubular acidosis" ], "alt_id": [], "def": "A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.", "synonym": [ [ "proximal tubular acidosis", "proximal tubular acidosis" ], [ "renal tubular acidosis , proximal", "renal tubular acidosis , proximal" ], [ "renal tubular acidosis , type ii", "renal tubular acidosis , type ii" ] ], "xref": [ "MSH:D000141", "SNOMEDCT_US:24790002", "UMLS:C0268435" ], "is_a": [ "HP:0001947" ], "is_obsolete": "", "replace_id": "" }, "HP:0002050": { "name": [ "macroorchidism , postpubertal", "macroorchidism , postpubertal" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1839782" ], "is_a": [ "HP:0000053" ], "is_obsolete": "", "replace_id": "" }, "HP:0002054": { "name": [ "heavy supraorbital ridges", "heavy supraorbital ridge" ], "alt_id": [], "def": "", "synonym": [ [ "heavy brow of the face", "heavy brow of the face" ], [ "heavy supraorbital ridge", "heavy supraorbital ridge" ] ], "xref": [ "UMLS:C1845107" ], "is_a": [ "HP:0000336" ], "is_obsolete": "", "replace_id": "" }, "HP:0002055": { "name": [ "curved linear dimple below the lower lip", "curve linear dimple below the low lip" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1844572" ], "is_a": [ "HP:0000178" ], "is_obsolete": "", "replace_id": "" }, "HP:0002056": { "name": [ "abnormality of the glabella", "abnormality of the glabella" ], "alt_id": [], "def": "An abnormality of the glabella.", "synonym": [ [ "abnormality of the area between the eyebrows", "abnormality of the area between the eyebrow" ], [ "deformity of the area between the eyebrows", "deformity of the area between the eyebrow" ], [ "glabellar abnormality", "glabellar abnormality" ], [ "malformation of the area between the eyebrows", "malformation of the area between the eyebrow" ] ], "xref": [ "UMLS:C4021763" ], "is_a": [ "HP:0000290" ], "is_obsolete": "", "replace_id": "" }, "HP:0002057": { "name": [ "prominent glabella", "prominent glabella" ], "alt_id": [], "def": "Forward protrusion of the glabella.", "synonym": [ [ "convex glabella", "convex glabella" ], [ "hyperplasia of glabella", "hyperplasia of glabella" ], [ "prominent area between the eyebrows", "prominent area between the eyebrow" ], [ "protruding area between the eyebrows", "protrude area between the eyebrow" ] ], "xref": [ "UMLS:C1860247" ], "is_a": [ "HP:0002056" ], "is_obsolete": "", "replace_id": "" }, "HP:0002058": { "name": [ "myopathic facies", "myopathic facies" ], "alt_id": [ "HP:0004647" ], "def": "A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.", "synonym": [ [ "myopathic face", "myopathic face" ], [ "myopathic facial appearance", "myopathic facial appearance" ] ], "xref": [ "SNOMEDCT_US:26432009", "UMLS:C0332615" ], "is_a": [ "HP:0004673" ], "is_obsolete": "", "replace_id": "" }, "HP:0002059": { "name": [ "cerebral atrophy", "cerebral atrophy" ], "alt_id": [ "HP:0002422", "HP:0006890" ], "def": "Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.", "synonym": [ [ "degeneration of cerebrum", "degeneration of cerebrum" ], [ "supratentorial atrophy", "supratentorial atrophy" ] ], "xref": [ "SNOMEDCT_US:278849000", "SNOMEDCT_US:418143002", "SNOMEDCT_US:52522001", "UMLS:C0154671", "UMLS:C0235946", "UMLS:C4020860" ], "is_a": [ "HP:0007369" ], "is_obsolete": "", "replace_id": "" }, "HP:0002060": { "name": [ "abnormal cerebral morphology", "abnormal cerebral morphology" ], "alt_id": [], "def": "Any structural abnormality of the telencephalon, which is also known as the cerebrum.", "synonym": [ [ "abnormality of the cerebrum", "abnormality of the cerebrum" ], [ "abnormality of the telencephalon", "abnormality of the telencephalon" ], [ "cerebral lesion", "cerebral lesion" ] ], "xref": [ "UMLS:C4021762" ], "is_a": [ "HP:0100547" ], "is_obsolete": "", "replace_id": "" }, "HP:0002061": { "name": [ "lower limb spasticity", "low limb spasticity" ], "alt_id": [], "def": "Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis", "synonym": [], "xref": [ "SNOMEDCT_US:394679006", "UMLS:C1271100" ], "is_a": [ "HP:0001257" ], "is_obsolete": "", "replace_id": "" }, "HP:0002062": { "name": [ "morphological abnormality of the pyramidal tract", "morphological abnormality of the pyramidal tract" ], "alt_id": [ "HP:0012445" ], "def": "Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.", "synonym": [ [ "abnormality of the pyramidal tracts", "abnormality of the pyramidal tract" ], [ "pyramidal tract disease", "pyramidal tract disease" ] ], "xref": [ "UMLS:C4020859", "UMLS:C4021761" ], "is_a": [ "HP:0002011" ], "is_obsolete": "", "replace_id": "" }, "HP:0002063": { "name": [ "rigidity", "rigidity" ], "alt_id": [], "def": "Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.", "synonym": [ [ "muscle rigidity", "muscle rigidity" ], [ "rigidity", "rigidity" ] ], "xref": [ "MSH:D009127", "SNOMEDCT_US:16046003", "UMLS:C0026837" ], "is_a": [ "HP:0001276" ], "is_obsolete": "", "replace_id": "" }, "HP:0002064": { "name": [ "spastic gait", "spastic gait" ], "alt_id": [], "def": "Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.", "synonym": [ [ "spastic walk", "spastic walk" ] ], "xref": [ "MSH:D020233", "SNOMEDCT_US:9447003", "UMLS:C0231687" ], "is_a": [ "HP:0001257", "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0002066": { "name": [ "gait ataxia", "gait ataxia" ], "alt_id": [ "HP:0002379" ], "def": "A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.", "synonym": [ [ "ataxia of gait", "ataxia of gait" ], [ "ataxic gait", "ataxic gait" ], [ "inability to coordinate movements when walking", "inability to coordinate movement when walk" ] ], "xref": [ "MSH:D020234", "SNOMEDCT_US:25136009", "UMLS:C0751837" ], "is_a": [ "HP:0001251", "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0002067": { "name": [ "bradykinesia", "bradykinesia" ], "alt_id": [], "def": "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).", "synonym": [ [ "slow movements", "slow movement" ], [ "slowness of movements", "slowness of movement" ] ], "xref": [ "MSH:D018476", "SNOMEDCT_US:399317006", "UMLS:C0233565" ], "is_a": [ "HP:0002071" ], "is_obsolete": "", "replace_id": "" }, "HP:0002068": { "name": [ "neuromuscular dysphagia", "neuromuscular dysphagia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025729" ], "is_a": [ "HP:0002015" ], "is_obsolete": "", "replace_id": "" }, "HP:0002069": { "name": [ "bilateral tonic - clonic seizure", "bilateral tonic - clonic seizure" ], "alt_id": [ "HP:0001306", "HP:0002407", "HP:0007252" ], "def": "A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.", "synonym": [ [ "bilateral convulsive seizures", "bilateral convulsive seizure" ], [ "generalised convulsion", "generalise convulsion" ], [ "generalised tonic - clonic seizure ( without specification of onset )", "generalise tonic - clonic seizure ( without specification of onset )" ], [ "generalized convulsion", "generalize convulsion" ], [ "generalized tonic - clonic seizure ( without specification of onset )", "generalize tonic - clonic seizure ( without specification of onset )" ], [ "grand mal", "grand mal" ], [ "grand mal seizures", "grand mal seizure" ], [ "seizures , tonic - clonic", "seizure , tonic - clonic" ], [ "tonic - clonic convulsion", "tonic - clonic convulsion" ], [ "tonic - clonic convulsions", "tonic - clonic convulsion" ] ], "xref": [ "MSH:D012640", "SNOMEDCT_US:54200006", "UMLS:C0494475" ], "is_a": [ "HP:0001250" ], "is_obsolete": "", "replace_id": "" }, "HP:0002070": { "name": [ "limb ataxia", "limb ataxia" ], "alt_id": [], "def": "A kind of ataxia that affects movements of the extremities.", "synonym": [ [ "appendicular ataxia", "appendicular ataxia" ] ], "xref": [ "MSH:D001259", "UMLS:C0750937" ], "is_a": [ "HP:0001251" ], "is_obsolete": "", "replace_id": "" }, "HP:0002071": { "name": [ "abnormality of extrapyramidal motor function", "abnormality of extrapyramidal motor function" ], "alt_id": [ "HP:0006810", "HP:0007113" ], "def": "A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).", "synonym": [ [ "extrapyramidal dysfunction", "extrapyramidal dysfunction" ], [ "extrapyramidal signs", "extrapyramidal sign" ], [ "extrapyramidal symptoms", "extrapyramidal symptom" ], [ "extrapyramidal syndrome", "extrapyramidal syndrome" ], [ "extrapyramidal tract signs", "extrapyramidal tract sign" ] ], "xref": [ "MSH:D001480", "SNOMEDCT_US:43378000", "SNOMEDCT_US:76349003", "UMLS:C0015371", "UMLS:C0234133" ], "is_a": [ "HP:0011442" ], "is_obsolete": "", "replace_id": "" }, "HP:0002072": { "name": [ "chorea", "chorea" ], "alt_id": [ "HP:0002397" ], "def": "Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.", "synonym": [ [ "choreatic disease", "choreatic disease" ], [ "choreic movements", "choreic movement" ], [ "choreiform movements", "choreiform movement" ] ], "xref": [ "MSH:D002819", "SNOMEDCT_US:271700006", "UMLS:C0008489", "UMLS:C4020858" ], "is_a": [ "HP:0004305" ], "is_obsolete": "", "replace_id": "" }, "HP:0002073": { "name": [ "progressive cerebellar ataxia", "progressive cerebellar ataxia" ], "alt_id": [ "HP:0001329", "HP:0002496", "HP:0007331" ], "def": "", "synonym": [ [ "cerebellar ataxia , progressive", "cerebellar ataxia , progressive" ], [ "progressive ataxia", "progressive ataxia" ] ], "xref": [ "SNOMEDCT_US:230233000", "UMLS:C0393525" ], "is_a": [ "HP:0001251" ], "is_obsolete": "", "replace_id": "" }, "HP:0002074": { "name": [ "increased neuronal autofluorescent lipopigment", "increase neuronal autofluorescent lipopigment" ], "alt_id": [], "def": "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.", "synonym": [ [ "neuronal lipopigments", "neuronal lipopigments" ] ], "xref": [ "UMLS:C4020857", "UMLS:C4025728" ], "is_a": [ "HP:0011813" ], "is_obsolete": "", "replace_id": "" }, "HP:0002075": { "name": [ "dysdiadochokinesis", "dysdiadochokinesis" ], "alt_id": [ "HP:0002426" ], "def": "A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.", "synonym": [ [ "difficulty performing quick and alternating movements", "difficulty perform quick and alternate movement" ], [ "dysdiadochokinesia", "dysdiadochokinesia" ] ], "xref": [ "SNOMEDCT_US:23133003", "UMLS:C0234979" ], "is_a": [ "HP:0001251" ], "is_obsolete": "", "replace_id": "" }, "HP:0002076": { "name": [ "migraine", "migraine" ], "alt_id": [ "HP:0007194" ], "def": "Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.", "synonym": [ [ "intermittent migraine headaches", "intermittent migraine headache" ], [ "migraine", "migraine" ], [ "migraine headache", "migraine headache" ], [ "migraine headaches", "migraine headache" ] ], "xref": [ "MSH:D008881", "SNOMEDCT_US:37796009", "UMLS:C0149931", "UMLS:C0744641" ], "is_a": [ "HP:0002315" ], "is_obsolete": "", "replace_id": "" }, "HP:0002077": { "name": [ "migraine with aura", "migraine with aura" ], "alt_id": [], "def": "A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.", "synonym": [], "xref": [ "MSH:D020325", "SNOMEDCT_US:4473006", "UMLS:C0154723" ], "is_a": [ "HP:0002076" ], "is_obsolete": "", "replace_id": "" }, "HP:0002078": { "name": [ "truncal ataxia", "truncal ataxia" ], "alt_id": [ "HP:0007014" ], "def": "Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.", "synonym": [ [ "instability or lack of coordination of central trunk muscles", "instability or lack of coordination of central trunk muscle" ], [ "trunk ataxia", "trunk ataxia" ] ], "xref": [ "MSH:D001259", "SNOMEDCT_US:250067008", "UMLS:C0427190" ], "is_a": [ "HP:0001251" ], "is_obsolete": "", "replace_id": "" }, "HP:0002079": { "name": [ "hypoplasia of the corpus callosum", "hypoplasia of the corpus callosum" ], "alt_id": [ "HP:0002319", "HP:0007026" ], "def": "Underdevelopment of the corpus callosum.", "synonym": [ [ "corpus callosum hypoplasia", "corpus callosum hypoplasia" ], [ "hypoplasia of corpus callosum", "hypoplasia of corpus callosum" ], [ "hypoplastic corpus callosum", "hypoplastic corpus callosum" ], [ "underdevelopment of part of brain called corpus callosum", "underdevelopment of part of brain call corpus callosum" ] ], "xref": [ "SNOMEDCT_US:204043002", "UMLS:C0344482" ], "is_a": [ "HP:0007370" ], "is_obsolete": "", "replace_id": "" }, "HP:0002080": { "name": [ "intention tremor", "intention tremor" ], "alt_id": [], "def": "A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).", "synonym": [ [ "cerebellar tremor", "cerebellar tremor" ], [ "terminal tremor", "terminal tremor" ] ], "xref": [ "MSH:D014202", "SNOMEDCT_US:30721006", "UMLS:C0234376", "UMLS:C4020856" ], "is_a": [ "HP:0030186" ], "is_obsolete": "", "replace_id": "" }, "HP:0002083": { "name": [ "migraine without aura", "migraine without aura" ], "alt_id": [], "def": "Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia.", "synonym": [], "xref": [ "MSH:D020326", "SNOMEDCT_US:56097005", "UMLS:C0338480" ], "is_a": [ "HP:0002076" ], "is_obsolete": "", "replace_id": "" }, "HP:0002084": { "name": [ "encephalocele", "encephalocele" ], "alt_id": [ "HP:0002736", "HP:0100664" ], "def": "A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.", "synonym": [ [ "bifid skull", "bifid skull" ], [ "cranium bifidum", "cranium bifidum" ] ], "xref": [ "MSH:D004677", "SNOMEDCT_US:253101008", "SNOMEDCT_US:48777005", "SNOMEDCT_US:55999004", "UMLS:C0014065" ], "is_a": [ "HP:0002011", "HP:0011815" ], "is_obsolete": "", "replace_id": "" }, "HP:0002085": { "name": [ "occipital encephalocele", "occipital encephalocele" ], "alt_id": [ "HP:0007051", "HP:0007357" ], "def": "A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.", "synonym": [ [ "brain tissue sticks out through back of skull", "brain tissue stick out through back of skull" ], [ "occipital meningoencephalocele", "occipital meningoencephalocele" ], [ "posterior encephalocele", "posterior encephalocele" ] ], "xref": [ "MSH:D004677", "SNOMEDCT_US:42376006", "UMLS:C0014067" ], "is_a": [ "HP:0002084" ], "is_obsolete": "", "replace_id": "" }, "HP:0002086": { "name": [ "abnormality of the respiratory system", "abnormality of the respiratory system" ], "alt_id": [], "def": "An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.", "synonym": [ [ "respiratory abnormality", "respiratory abnormality" ] ], "xref": [ "UMLS:C4018871" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0002087": { "name": [ "abnormality of the upper respiratory tract", "abnormality of the upper respiratory tract" ], "alt_id": [], "def": "An abnormality of the upper respiratory tract.", "synonym": [ [ "abnormality of the upper respiratory tract", "abnormality of the upper respiratory tract" ], [ "upper respiratory tract issues", "upper respiratory tract issue" ] ], "xref": [ "UMLS:C4025727" ], "is_a": [ "HP:0012252" ], "is_obsolete": "", "replace_id": "" }, "HP:0002088": { "name": [ "abnormal lung morphology", "abnormal lung morphology" ], "alt_id": [], "def": "Any structural anomaly of the lung.", "synonym": [ [ "abnormality of lung structure", "abnormality of lung structure" ], [ "abnormality of the lungs", "abnormality of the lung" ], [ "abnormally shaped lung", "abnormally shape lung" ], [ "lung disease", "lung disease" ], [ "unusal lung shape", "unusal lung shape" ] ], "xref": [ "MSH:D008171", "SNOMEDCT_US:19829001", "UMLS:C0024115", "UMLS:C4021760" ], "is_a": [ "HP:0012252" ], "is_obsolete": "", "replace_id": "" }, "HP:0002089": { "name": [ "pulmonary hypoplasia", "pulmonary hypoplasia" ], "alt_id": [], "def": "", "synonym": [ [ "hypoplastic lung", "hypoplastic lung" ], [ "hypoplastic lungs", "hypoplastic lung" ], [ "lung hypoplasia", "lung hypoplasia" ], [ "poorly developed lungs", "poorly develop lung" ], [ "small lung", "small lung" ], [ "underdeveloped lung", "underdeveloped lung" ] ], "xref": [ "SNOMEDCT_US:80825009", "UMLS:C0265783" ], "is_a": [ "HP:0006703" ], "is_obsolete": "", "replace_id": "" }, "HP:0002090": { "name": [ "pneumonia", "pneumonia" ], "alt_id": [], "def": "Inflammation of any part of the lung parenchyma.", "synonym": [ [ "pneumonia", "pneumonia" ] ], "xref": [ "MSH:D011014", "SNOMEDCT_US:233604007", "UMLS:C0032285" ], "is_a": [ "HP:0011947", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0002091": { "name": [ "restrictive ventilatory defect", "restrictive ventilatory defect" ], "alt_id": [ "HP:0002111" ], "def": "A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.", "synonym": [ [ "restrictive deficit on pulmonary function testing", "restrictive deficit on pulmonary function test" ], [ "restrictive deficit on pulmonary function tests", "restrictive deficit on pulmonary function test" ], [ "restrictive lung disease", "restrictive lung disease" ], [ "restrictive respiratory disease", "restrictive respiratory disease" ], [ "restrictive respiratory insufficiency", "restrictive respiratory insufficiency" ], [ "restrictive respiratory syndrome", "restrictive respiratory syndrome" ], [ "spirometric restriction", "spirometric restriction" ], [ "stiff lung or chest wall causing decreased lung volume", "stiff lung or chest wall causing decrease lung volume" ] ], "xref": [ "SNOMEDCT_US:36485005", "UMLS:C0085581", "UMLS:C3277226" ], "is_a": [ "HP:0030878" ], "is_obsolete": "", "replace_id": "" }, "HP:0002092": { "name": [ "pulmonary arterial hypertension", "pulmonary arterial hypertension" ], "alt_id": [ "HP:0006546" ], "def": "Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.", "synonym": [ [ "increased blood pressure in blood vessels of lungs", "increase blood pressure in blood vessel of lung" ], [ "primary pulmonary hypertension", "primary pulmonary hypertension" ], [ "pulmonary artery hypertension", "pulmonary artery hypertension" ] ], "xref": [ "MSH:D006976", "MSH:D065627", "SNOMEDCT_US:11399002", "SNOMEDCT_US:697898008", "SNOMEDCT_US:70995007", "UMLS:C0020542", "UMLS:C2973725", "UMLS:C3203102" ], "is_a": [ "HP:0033578" ], "is_obsolete": "", "replace_id": "" }, "HP:0002093": { "name": [ "respiratory insufficiency", "respiratory insufficiency" ], "alt_id": [ "HP:0004893", "HP:0005937", "HP:0006542" ], "def": "", "synonym": [ [ "progressive respiratory failure", "progressive respiratory failure" ], [ "respiratory function loss", "respiratory function loss" ], [ "respiratory impairment", "respiratory impairment" ] ], "xref": [ "MSH:D012131", "SNOMEDCT_US:409623005", "UMLS:C0035229", "UMLS:C4020855" ], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0002094": { "name": [ "dyspnea", "dyspnea" ], "alt_id": [], "def": "Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.", "synonym": [ [ "abnormal breathing", "abnormal breathing" ], [ "breathing difficulty", "breathe difficulty" ], [ "difficult to breathe", "difficult to breathe" ], [ "difficulty breathing", "difficulty breathe" ], [ "dyspnoea", "dyspnoea" ], [ "panting", "pant" ], [ "shortness of breath", "shortness of breath" ], [ "trouble breathing", "trouble breathe" ] ], "xref": [ "MSH:D004417", "SNOMEDCT_US:230145002", "SNOMEDCT_US:267036007", "UMLS:C0013404" ], "is_a": [ "HP:0002793" ], "is_obsolete": "", "replace_id": "" }, "HP:0002097": { "name": [ "emphysema", "emphysema" ], "alt_id": [ "HP:0006534" ], "def": "", "synonym": [ [ "pulmonary emphysema", "pulmonary emphysema" ] ], "xref": [ "MSH:D011656", "SNOMEDCT_US:87433001", "UMLS:C0034067" ], "is_a": [ "HP:0002088" ], "is_obsolete": "", "replace_id": "" }, "HP:0002098": { "name": [ "respiratory distress", "respiratory distress" ], "alt_id": [ "HP:0002880" ], "def": "Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.", "synonym": [ [ "breathing difficulties", "breathe difficulty" ], [ "labored breathing", "labor breathing" ], [ "respiratory difficulties", "respiratory difficulty" ] ], "xref": [ "MSH:D004417", "SNOMEDCT_US:230145002", "SNOMEDCT_US:267036007", "SNOMEDCT_US:271825005", "UMLS:C0013404", "UMLS:C0476273" ], "is_a": [ "HP:0002094" ], "is_obsolete": "", "replace_id": "" }, "HP:0002099": { "name": [ "asthma", "asthma" ], "alt_id": [ "HP:0002112" ], "def": "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.", "synonym": [ [ "asthma", "asthma" ], [ "bronchial asthma", "bronchial asthma" ], [ "reactive airway disease", "reactive airway disease" ] ], "xref": [ "MSH:D001249", "SNOMEDCT_US:195967001", "SNOMEDCT_US:991000119106", "UMLS:C0004096", "UMLS:C3714497" ], "is_a": [ "HP:0002795", "HP:0100326" ], "is_obsolete": "", "replace_id": "" }, "HP:0002100": { "name": [ "recurrent aspiration pneumonia", "recurrent aspiration pneumonia" ], "alt_id": [ "HP:0002106" ], "def": "Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.", "synonym": [ [ "recurrent pneumonia due to aspiration ,", "recurrent pneumonia due to aspiration ," ] ], "xref": [ "SNOMEDCT_US:430969000", "UMLS:C0747651" ], "is_a": [ "HP:0011951" ], "is_obsolete": "", "replace_id": "" }, "HP:0002101": { "name": [ "abnormal lung lobation", "abnormal lung lobation" ], "alt_id": [ "HP:0006525", "HP:0009753" ], "def": "A developmental defect in the formation of pulmonary lobes.", "synonym": [ [ "defective lung lobation", "defective lung lobation" ], [ "lung segmentation defects", "lung segmentation defect" ] ], "xref": [ "SNOMEDCT_US:91842005", "UMLS:C0685695" ], "is_a": [ "HP:4000059" ], "is_obsolete": "", "replace_id": "" }, "HP:0002102": { "name": [ "pleuritis", "pleuritis" ], "alt_id": [], "def": "Inflammation of the pleura.", "synonym": [ [ "inflammation of tissues lining lungs and chest", "inflammation of tissue line lung and chest" ], [ "pleurisy", "pleurisy" ] ], "xref": [ "MSH:D010998", "SNOMEDCT_US:196075003", "UMLS:C0032231" ], "is_a": [ "HP:0002103" ], "is_obsolete": "", "replace_id": "" }, "HP:0002103": { "name": [ "abnormal pleura morphology", "abnormal pleura morphology" ], "alt_id": [], "def": "An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.", "synonym": [ [ "abnormality of the pleura", "abnormality of the pleura" ] ], "xref": [ "UMLS:C4025726" ], "is_a": [ "HP:0002088" ], "is_obsolete": "", "replace_id": "" }, "HP:0002104": { "name": [ "apnea", "apnea" ], "alt_id": [ "HP:0005936", "HP:0005958" ], "def": "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.", "synonym": [ [ "absence of spontaneous respiration", "absence of spontaneous respiration" ], [ "apneic episodes", "apneic episode" ], [ "apnoea", "apnoea" ] ], "xref": [ "MSH:D001049", "SNOMEDCT_US:1023001", "SNOMEDCT_US:248583008", "UMLS:C0003578" ], "is_a": [ "HP:0002793" ], "is_obsolete": "", "replace_id": "" }, "HP:0002105": { "name": [ "hemoptysis", "hemoptysis" ], "alt_id": [], "def": "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.", "synonym": [ [ "coughing up blood", "cough up blood" ], [ "coughing up blood or blood - stained mucus", "cough up blood or blood - stain mucus" ], [ "haemoptysis", "haemoptysis" ] ], "xref": [ "MSH:D006469", "SNOMEDCT_US:66857006", "SNOMEDCT_US:6686005", "UMLS:C0019079" ], "is_a": [ "HP:0032016" ], "is_obsolete": "", "replace_id": "" }, "HP:0002107": { "name": [ "pneumothorax", "pneumothorax" ], "alt_id": [], "def": "Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.", "synonym": [ [ "collapsed lung", "collapse lung" ] ], "xref": [ "MSH:D011030", "SNOMEDCT_US:36118008", "UMLS:C0032326" ], "is_a": [ "HP:0002103" ], "is_obsolete": "", "replace_id": "" }, "HP:0002108": { "name": [ "spontaneous pneumothorax", "spontaneous pneumothorax" ], "alt_id": [], "def": "Pneumothorax occurring without traumatic injury to the chest or lung.", "synonym": [ [ "spontaneous collapsed lung", "spontaneous collapse lung" ] ], "xref": [ "MSH:D011030", "SNOMEDCT_US:80423007", "UMLS:C0149781" ], "is_a": [ "HP:0002107" ], "is_obsolete": "", "replace_id": "" }, "HP:0002109": { "name": [ "obsolete abnormality of the bronchi", "obsolete abnormality of the bronchus" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0025426" }, "HP:0002110": { "name": [ "bronchiectasis", "bronchiectasis" ], "alt_id": [], "def": "Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.", "synonym": [ [ "permanent enlargement of the airways of the lungs", "permanent enlargement of the airway of the lung" ] ], "xref": [ "MSH:D001987", "SNOMEDCT_US:12295008", "UMLS:C0006267" ], "is_a": [ "HP:0025426" ], "is_obsolete": "", "replace_id": "" }, "HP:0002111": { "name": [ "obsolete restrictive deficit on pulmonary function testing", "obsolete restrictive deficit on pulmonary function test" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0002091" }, "HP:0002113": { "name": [ "pulmonary infiltrates", "pulmonary infiltrates" ], "alt_id": [], "def": "", "synonym": [ [ "lung infiltrates", "lung infiltrates" ], [ "pulmonic infiltration", "pulmonic infiltration" ] ], "xref": [ "UMLS:C0235896" ], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0002118": { "name": [ "abnormal cerebral ventricle morphology", "abnormal cerebral ventricle morphology" ], "alt_id": [], "def": "Any structural abnormality of the cerebral ventricles.", "synonym": [ [ "abnormality of the cerebral ventricles", "abnormality of the cerebral ventricle" ] ], "xref": [ "UMLS:C4025724" ], "is_a": [ "HP:0012443" ], "is_obsolete": "", "replace_id": "" }, "HP:0002119": { "name": [ "ventriculomegaly", "ventriculomegaly" ], "alt_id": [ "HP:0002447", "HP:0005691", "HP:0007071" ], "def": "An increase in size of the ventricular system of the brain.", "synonym": [ [ "cerebral ventricular dilatation", "cerebral ventricular dilatation" ], [ "dilated cerebral ventricle", "dilate cerebral ventricle" ], [ "dilated cerebral ventricles", "dilate cerebral ventricle" ], [ "dilated ventricles", "dilate ventricle" ], [ "enlarged cerebral ventricles", "enlarged cerebral ventricle" ], [ "enlarged ventricles", "enlarge ventricle" ], [ "enlarged ventricular system", "enlarge ventricular system" ], [ "large cerebral ventricles and cisternae", "large cerebral ventricle and cisterna" ], [ "ventricular dilatation", "ventricular dilatation" ] ], "xref": [ "UMLS:C3278923" ], "is_a": [ "HP:0002118" ], "is_obsolete": "", "replace_id": "" }, "HP:0002120": { "name": [ "cerebral cortical atrophy", "cerebral cortical atrophy" ], "alt_id": [ "HP:0006823", "HP:0006835" ], "def": "Atrophy of the cortex of the cerebrum.", "synonym": [ [ "cerebral cortex atrophy", "cerebral cortex atrophy" ], [ "cortical atrophy", "cortical atrophy" ], [ "decrease in size of the outer layer of the brain due to loss of brain cells", "decrease in size of the outer layer of the brain due to loss of brain cell" ] ], "xref": [ "SNOMEDCT_US:278849000", "UMLS:C0235946" ], "is_a": [ "HP:0002059", "HP:0002538" ], "is_obsolete": "", "replace_id": "" }, "HP:0002121": { "name": [ "generalized non - motor ( absence ) seizure", "generalize non - motor ( absence ) seizure" ], "alt_id": [ "HP:0007143", "HP:0011148" ], "def": "A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.", "synonym": [ [ "absence seizure", "absence seizure" ], [ "absence seizures", "absence seizure" ], [ "brief seizures with staring spells", "brief seizure with star spell" ], [ "generalised non - motor ( absence ) seizure", "generalise non - motor ( absence ) seizure" ], [ "generalised non - motor seizure", "generalise non - motor seizure" ], [ "petit mal", "petit mal" ], [ "petit mal seizure", "petit mal seizure" ], [ "petit mal seizures", "petit mal seizure" ] ], "xref": [ "MSH:D004832", "SNOMEDCT_US:230413002", "SNOMEDCT_US:432241000124101", "SNOMEDCT_US:50866000", "SNOMEDCT_US:79631006", "UMLS:C0014553" ], "is_a": [ "HP:0002197", "HP:0011146", "HP:0033259" ], "is_obsolete": "", "replace_id": "" }, "HP:0002123": { "name": [ "generalized myoclonic seizure", "generalize myoclonic seizure" ], "alt_id": [ "HP:0006869", "HP:0006902", "HP:0007075", "HP:0007202", "HP:0007284", "HP:0007294" ], "def": "A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.", "synonym": [ [ "generalised epileptic myoclonus", "generalise epileptic myoclonus" ], [ "generalised myoclonic seizure", "generalise myoclonic seizure" ], [ "generalised myoclonic seizures", "generalise myoclonic seizure" ], [ "generalized epileptic myoclonus", "generalize epileptic myoclonus" ], [ "generalized myoclonic seizures", "generalize myoclonic seizure" ], [ "myoclonic epilepsy , progressive", "myoclonic epilepsy , progressive" ], [ "myoclonus seizures", "myoclonus seizure" ] ], "xref": [ "MSH:D004831", "MSH:D020191", "SNOMEDCT_US:192992007", "SNOMEDCT_US:267581004", "SNOMEDCT_US:37356005", "UMLS:C0014550", "UMLS:C0751778", "UMLS:C4021759" ], "is_a": [ "HP:0032677", "HP:0032794" ], "is_obsolete": "", "replace_id": "" }, "HP:0002126": { "name": [ "polymicrogyria", "polymicrogyria" ], "alt_id": [], "def": "Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).", "synonym": [ [ "more grooves in brain", "more groove in brain" ] ], "xref": [ "MSH:D065706", "SNOMEDCT_US:4945003", "UMLS:C0266464" ], "is_a": [ "HP:0002536" ], "is_obsolete": "", "replace_id": "" }, "HP:0002127": { "name": [ "abnormal upper motor neuron morphology", "abnormal upper motor neuron morphology" ], "alt_id": [], "def": "Any structural anomaly that affects the upper motor neuron.", "synonym": [ [ "abnormal shape of upper motor neuron", "abnormal shape of upper motor neuron" ] ], "xref": [ "UMLS:C4025723" ], "is_a": [ "HP:0002450" ], "is_obsolete": "", "replace_id": "" }, "HP:0002131": { "name": [ "episodic ataxia", "episodic ataxia" ], "alt_id": [ "HP:0006862", "HP:0007152", "HP:0007214" ], "def": "Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.\\n", "synonym": [ [ "intermittent cerebellar ataxia", "intermittent cerebellar ataxia" ], [ "paroxysmal ataxia", "paroxysmal ataxia" ] ], "xref": [ "MSH:C580065", "SNOMEDCT_US:421455009", "UMLS:C1720189" ], "is_a": [ "HP:0001251" ], "is_obsolete": "", "replace_id": "" }, "HP:0002132": { "name": [ "porencephalic cyst", "porencephalic cyst" ], "alt_id": [], "def": "A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.", "synonym": [ [ "cavity within brain", "cavity within brain" ] ], "xref": [ "MSH:D065708", "UMLS:C4082173" ], "is_a": [ "HP:0002060" ], "is_obsolete": "", "replace_id": "" }, "HP:0002133": { "name": [ "status epilepticus", "status epilepticus" ], "alt_id": [], "def": "Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.", "synonym": [ [ "prolonged seizure", "prolonged seizure" ], [ "repeated seizure without recovery", "repeat seizure without recovery" ], [ "repeated seizures without recovery between them", "repeat seizure without recovery between them" ] ], "xref": [ "MSH:D013226", "SNOMEDCT_US:230456007", "UMLS:C0038220" ], "is_a": [ "HP:0001250" ], "is_obsolete": "", "replace_id": "" }, "HP:0002134": { "name": [ "abnormality of the basal ganglia", "abnormality of the basal ganglion" ], "alt_id": [ "HP:0006952", "HP:0007257" ], "def": "Abnormality of the basal ganglia.", "synonym": [ [ "anomaly of the basal ganglia", "anomaly of the basal ganglion" ], [ "basal ganglia disease", "basal ganglion disease" ] ], "xref": [ "MSH:D001480", "SNOMEDCT_US:70835005", "UMLS:C0004782" ], "is_a": [ "HP:0010993" ], "is_obsolete": "", "replace_id": "" }, "HP:0002135": { "name": [ "basal ganglia calcification", "basal ganglion calcification" ], "alt_id": [ "HP:0002485" ], "def": "The presence of calcium deposition affecting one or more structures of the basal ganglia.", "synonym": [ [ "basal ganglia calcifications", "basal ganglion calcification" ], [ "basal ganglion calcification", "basal ganglion calcification" ], [ "calcification of the basal ganglia", "calcification of the basal ganglion" ] ], "xref": [ "UMLS:C1389280" ], "is_a": [ "HP:0002134", "HP:0002514" ], "is_obsolete": "", "replace_id": "" }, "HP:0002136": { "name": [ "broad - based gait", "broad - base gait" ], "alt_id": [], "def": "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.", "synonym": [ [ "broad based gait", "broad base gait" ], [ "wide based gait", "wide base gait" ], [ "wide based walk", "wide base walk" ], [ "wide - based gait", "wide - base gait" ] ], "xref": [ "UMLS:C0856863" ], "is_a": [ "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0002138": { "name": [ "subarachnoid hemorrhage", "subarachnoid hemorrhage" ], "alt_id": [], "def": "Hemorrhage occurring between the arachnoid mater and the pia mater.", "synonym": [ [ "subarachnoid haemorrhage", "subarachnoid haemorrhage" ] ], "xref": [ "MSH:D013345", "SNOMEDCT_US:21454007", "UMLS:C0038525" ], "is_a": [ "HP:0002170", "HP:0012703" ], "is_obsolete": "", "replace_id": "" }, "HP:0002139": { "name": [ "arrhinencephaly", "arrhinencephaly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D016142", "UMLS:C0078982" ], "is_a": [ "HP:0002323" ], "is_obsolete": "", "replace_id": "" }, "HP:0002140": { "name": [ "ischemic stroke", "ischemic stroke" ], "alt_id": [], "def": "Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.", "synonym": [ [ "ischaemic stroke", "ischaemic stroke" ] ], "xref": [ "SNOMEDCT_US:422504002", "UMLS:C0948008" ], "is_a": [ "HP:0001297", "HP:0002637" ], "is_obsolete": "", "replace_id": "" }, "HP:0002141": { "name": [ "gait imbalance", "gait imbalance" ], "alt_id": [ "HP:0100683" ], "def": "", "synonym": [ [ "abnormality of balance", "abnormality of balance" ], [ "abnormality of equilibrium", "abnormality of equilibrium" ], [ "imbalanced walk", "imbalanced walk" ] ], "xref": [ "UMLS:C1836150" ], "is_a": [ "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0002143": { "name": [ "abnormality of the spinal cord", "abnormality of the spinal cord" ], "alt_id": [], "def": "An abnormality of the spinal cord (myelon).", "synonym": [ [ "abnormality of the spinal cord", "abnormality of the spinal cord" ], [ "spinal cord disease", "spinal cord disease" ], [ "spinal cord pathology", "spinal cord pathology" ] ], "xref": [ "MSH:D013118", "SNOMEDCT_US:48522003", "UMLS:C0037928", "UMLS:C4025722" ], "is_a": [ "HP:0002011" ], "is_obsolete": "", "replace_id": "" }, "HP:0002144": { "name": [ "tethered cord", "tether cord" ], "alt_id": [], "def": "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.", "synonym": [ [ "occult spinal dysraphism", "occult spinal dysraphism" ] ], "xref": [ "MSH:D009436", "SNOMEDCT_US:70534000", "UMLS:C0080218" ], "is_a": [ "HP:0031938" ], "is_obsolete": "", "replace_id": "" }, "HP:0002145": { "name": [ "frontotemporal dementia", "frontotemporal dementia" ], "alt_id": [], "def": "A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.", "synonym": [], "xref": [ "MSH:D057180", "SNOMEDCT_US:230270009", "UMLS:C0338451" ], "is_a": [ "HP:0000726" ], "is_obsolete": "", "replace_id": "" }, "HP:0002148": { "name": [ "hypophosphatemia", "hypophosphatemia" ], "alt_id": [], "def": "An abnormally decreased phosphate concentration in the blood.", "synonym": [ [ "hypophosphataemia", "hypophosphataemia" ], [ "low blood phosphate level", "low blood phosphate level" ] ], "xref": [ "MSH:D017674", "SNOMEDCT_US:4996001", "UMLS:C0085682" ], "is_a": [ "HP:0100529" ], "is_obsolete": "", "replace_id": "" }, "HP:0002149": { "name": [ "hyperuricemia", "hyperuricemia" ], "alt_id": [], "def": "An abnormally high level of uric acid in the blood.", "synonym": [ [ "high blood uric acid level", "high blood uric acid level" ], [ "hyperuricaemia", "hyperuricaemia" ] ], "xref": [ "MSH:D033461", "SNOMEDCT_US:35885006", "UMLS:C0740394" ], "is_a": [ "HP:0002157", "HP:0010932" ], "is_obsolete": "", "replace_id": "" }, "HP:0002150": { "name": [ "hypercalciuria", "hypercalciuria" ], "alt_id": [], "def": "", "synonym": [ [ "elevated urine calcium levels", "elevate urine calcium level" ], [ "hypercalcinuria", "hypercalcinuria" ] ], "xref": [ "MSH:D053565", "SNOMEDCT_US:71938000", "UMLS:C0020438" ], "is_a": [ "HP:0011280" ], "is_obsolete": "", "replace_id": "" }, "HP:0002151": { "name": [ "increased serum lactate", "increase serum lactate" ], "alt_id": [ "HP:0003638" ], "def": "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).", "synonym": [ [ "higher than normal levels of lactate in blood", "high than normal level of lactate in blood" ], [ "increased blood lactate", "increase blood lactate" ] ], "xref": [ "UMLS:C1836440" ], "is_a": [ "HP:0001941" ], "is_obsolete": "", "replace_id": "" }, "HP:0002152": { "name": [ "hyperproteinemia", "hyperproteinemia" ], "alt_id": [], "def": "An increased concentration of proteins in the blood.", "synonym": [], "xref": [ "SNOMEDCT_US:37064009", "UMLS:C0267988" ], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0002153": { "name": [ "hyperkalemia", "hyperkalemia" ], "alt_id": [], "def": "An abnormally increased potassium concentration in the blood.", "synonym": [ [ "elevated serum potassium levels", "elevate serum potassium level" ] ], "xref": [ "MSH:D006947", "SNOMEDCT_US:14140009", "SNOMEDCT_US:166689004", "SNOMEDCT_US:238142003", "UMLS:C0020461" ], "is_a": [ "HP:0011042" ], "is_obsolete": "", "replace_id": "" }, "HP:0002154": { "name": [ "hyperglycinemia", "hyperglycinemia" ], "alt_id": [], "def": "An elevated concentration of glycine in the blood.", "synonym": [ [ "elevated blood glycine levels", "elevate blood glycine level" ], [ "hyperglycinaemia", "hyperglycinaemia" ] ], "xref": [ "SNOMEDCT_US:64654004", "UMLS:C0268559" ], "is_a": [ "HP:0010895" ], "is_obsolete": "", "replace_id": "" }, "HP:0002155": { "name": [ "hypertriglyceridemia", "hypertriglyceridemia" ], "alt_id": [ "HP:0003082", "HP:0008174", "HP:0008332" ], "def": "An abnormal increase in the level of triglycerides in the blood.", "synonym": [ [ "increased circulating tg levels", "increase circulate tg level" ], [ "increased plasma tg levels", "increase plasma tg level" ], [ "increased plasma triglycerides", "increase plasma triglyceride" ], [ "increased serum triglycerides", "increase serum triglyceride" ], [ "increased triglycerides", "increase triglyceride" ] ], "xref": [ "UMLS:C1522137" ], "is_a": [ "HP:0003077" ], "is_obsolete": "", "replace_id": "" }, "HP:0002156": { "name": [ "homocystinuria", "homocystinuria" ], "alt_id": [], "def": "An increased concentration of homocystine in the urine.", "synonym": [ [ "high urine homocystine levels", "high urine homocystine level" ] ], "xref": [ "MSH:D006712", "SNOMEDCT_US:11282001", "UMLS:C0019880" ], "is_a": [ "HP:0033095" ], "is_obsolete": "", "replace_id": "" }, "HP:0002157": { "name": [ "azotemia", "azotemia" ], "alt_id": [], "def": "An increased concentration of nitrogen compounds in the blood.", "synonym": [ [ "azotaemia", "azotaemia" ] ], "xref": [ "MSH:D053099", "SNOMEDCT_US:445009001", "UMLS:C0242528" ], "is_a": [ "HP:0004364" ], "is_obsolete": "", "replace_id": "" }, "HP:0002159": { "name": [ "heparan sulfate excretion in urine", "heparan sulfate excretion in urine" ], "alt_id": [], "def": "An increased concentration of heparan sulfates in the urine.", "synonym": [ [ "heparan sulphate excretion in urine", "heparan sulphate excretion in urine" ] ], "xref": [ "UMLS:C1854827" ], "is_a": [ "HP:0008155" ], "is_obsolete": "", "replace_id": "" }, "HP:0002160": { "name": [ "hyperhomocystinemia", "hyperhomocystinemia" ], "alt_id": [], "def": "An increased concentration of homocystine in the blood.", "synonym": [ [ "elevated blood homocystine", "elevate blood homocystine" ], [ "homocystinemia", "homocystinemia" ] ], "xref": [ "UMLS:C3806347" ], "is_a": [ "HP:0010919" ], "is_obsolete": "", "replace_id": "" }, "HP:0002161": { "name": [ "hyperlysinemia", "hyperlysinemia" ], "alt_id": [], "def": "An increased concentration of lysine in the blood.", "synonym": [ [ "elevated blood lysine", "elevate blood lysine" ] ], "xref": [ "MSH:D020167", "SNOMEDCT_US:58558003", "UMLS:C0268553" ], "is_a": [ "HP:0010908" ], "is_obsolete": "", "replace_id": "" }, "HP:0002162": { "name": [ "low posterior hairline", "low posterior hairline" ], "alt_id": [], "def": "Hair on the neck extends more inferiorly than usual.", "synonym": [ [ "low hairline at back of neck", "low hairline at back of neck" ], [ "low posterior hair line", "low posterior hair line" ] ], "xref": [ "UMLS:C1855728" ], "is_a": [ "HP:0000464", "HP:0030141" ], "is_obsolete": "", "replace_id": "" }, "HP:0002164": { "name": [ "nail dysplasia", "nail dysplasia" ], "alt_id": [ "HP:0001793", "HP:0001794", "HP:0001797", "HP:0008387", "HP:0008403", "HP:0008409", "HP:0008412" ], "def": "The presence of developmental dysplasia of the nail.", "synonym": [ [ "atypical nail growth", "atypical nail growth" ], [ "dysplastic nails", "dysplastic nail" ], [ "onychodysplasia", "onychodysplasia" ] ], "xref": [ "UMLS:C1834405" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0002165": { "name": [ "pterygium of nails", "pterygium of nail" ], "alt_id": [], "def": "Inward advance of skin over the nail plate.", "synonym": [ [ "nail pterygium", "nail pterygium" ] ], "xref": [ "SNOMEDCT_US:110987009", "UMLS:C0406438" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0002166": { "name": [ "impaired vibration sensation in the lower limbs", "impaired vibration sensation in the low limb" ], "alt_id": [], "def": "A decrease in the ability to perceive vibration in the legs.", "synonym": [ [ "decreased lower limb vibratory sense", "decrease low limb vibratory sense" ], [ "decreased vibratory sense in lower limbs", "decreased vibratory sense in low limb" ], [ "decreased vibratory sense in the lower extremities", "decreased vibratory sense in the low extremity" ], [ "decreased vibratory sense in the lower limbs", "decreased vibratory sense in the low limb" ], [ "diminished vibratory sensation in the legs", "diminished vibratory sensation in the leg" ], [ "distal sensory loss , especially vibratory sense", "distal sensory loss , especially vibratory sense" ], [ "distal vibratory impairment of the lower limbs", "distal vibratory impairment of the low limb" ], [ "impaired vibration sensation in the lower limbs", "impaired vibration sensation in the low limb" ] ], "xref": [ "UMLS:C1849134" ], "is_a": [ "HP:0002495" ], "is_obsolete": "", "replace_id": "" }, "HP:0002167": { "name": [ "neurological speech impairment", "neurological speech impairment" ], "alt_id": [], "def": "", "synonym": [ [ "speech disorder", "speech disorder" ], [ "speech impairment", "speech impairment" ], [ "speech impediment", "speech impediment" ] ], "xref": [ "MSH:D013064", "UMLS:C0037822" ], "is_a": [ "HP:0011446" ], "is_obsolete": "", "replace_id": "" }, "HP:0002168": { "name": [ "scanning speech", "scan speech" ], "alt_id": [], "def": "An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.", "synonym": [ [ "explosive speech", "explosive speech" ] ], "xref": [ "SNOMEDCT_US:102935005", "SNOMEDCT_US:77420001", "UMLS:C0278184", "UMLS:C0522198" ], "is_a": [ "HP:0002167" ], "is_obsolete": "", "replace_id": "" }, "HP:0002169": { "name": [ "clonus", "clonus" ], "alt_id": [], "def": "A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.", "synonym": [ [ "involuntary rhythmic muscular contractions and relaxations", "involuntary rhythmic muscular contraction and relaxation" ] ], "xref": [ "SNOMEDCT_US:36649002", "UMLS:C0009024" ], "is_a": [ "HP:0001347", "HP:0004305" ], "is_obsolete": "", "replace_id": "" }, "HP:0002170": { "name": [ "intracranial hemorrhage", "intracranial hemorrhage" ], "alt_id": [], "def": "Hemorrhage occurring within the skull.", "synonym": [ [ "bleeding within the skull", "bleed within the skull" ], [ "intracranial haemorrhage", "intracranial haemorrhage" ] ], "xref": [ "MSH:D020300", "SNOMEDCT_US:1386000", "UMLS:C0151699" ], "is_a": [ "HP:0011029", "HP:0100659" ], "is_obsolete": "", "replace_id": "" }, "HP:0002171": { "name": [ "gliosis", "gliosis" ], "alt_id": [], "def": "Gliosis is the focal proliferation of glial cells in the central nervous system.", "synonym": [ [ "cerebral gliosis", "cerebral gliosis" ], [ "excess astrocytes in brain", "excess astrocyte in brain" ] ], "xref": [ "MSH:D005911", "SNOMEDCT_US:359580009", "SNOMEDCT_US:81415000", "UMLS:C0017639" ], "is_a": [ "HP:0100705" ], "is_obsolete": "", "replace_id": "" }, "HP:0002172": { "name": [ "postural instability", "postural instability" ], "alt_id": [], "def": "A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.", "synonym": [ [ "abnormal retropulsion test", "abnormal retropulsion test" ], [ "balance impairment", "balance impairment" ], [ "imbalance", "imbalance" ] ], "xref": [ "UMLS:C1843921" ], "is_a": [ "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0002173": { "name": [ "hypoglycemic seizures", "hypoglycemic seizure" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C0877056" ], "is_a": [ "HP:0001943", "HP:0011145" ], "is_obsolete": "", "replace_id": "" }, "HP:0002174": { "name": [ "postural tremor", "postural tremor" ], "alt_id": [ "HP:0006925", "HP:0007197" ], "def": "A type of tremors that is triggered by holding a limb in a fixed position.", "synonym": [ [ "tremor , postural", "tremor , postural" ] ], "xref": [ "MSH:D014202", "SNOMEDCT_US:56610005", "UMLS:C0234378" ], "is_a": [ "HP:0002345" ], "is_obsolete": "", "replace_id": "" }, "HP:0002176": { "name": [ "spinal cord compression", "spinal cord compression" ], "alt_id": [], "def": "External mechanical compression of the spinal cord.", "synonym": [ [ "pressure on spinal cord", "pressure on spinal cord" ] ], "xref": [ "MSH:D013117", "SNOMEDCT_US:71286001", "UMLS:C0037926" ], "is_a": [ "HP:0002143" ], "is_obsolete": "", "replace_id": "" }, "HP:0002179": { "name": [ "opisthotonus", "opisthotonus" ], "alt_id": [], "def": "", "synonym": [ [ "opisthotonos", "opisthotonos" ] ], "xref": [ "SNOMEDCT_US:8652009", "UMLS:C0151818" ], "is_a": [ "HP:0001257" ], "is_obsolete": "", "replace_id": "" }, "HP:0002180": { "name": [ "neurodegeneration", "neurodegeneration" ], "alt_id": [], "def": "Progressive loss of neural cells and tissue.", "synonym": [ [ "neuro - degenerative disease", "neuro - degenerative disease" ], [ "neurodegenerative disease", "neurodegenerative disease" ], [ "ongoing loss of nerve cells", "ongoing loss of nerve cell" ], [ "progressive neurodegenerative disorder", "progressive neurodegenerative disorder" ] ], "xref": [ "MSH:D009410", "MSH:D019636", "UMLS:C0027746", "UMLS:C0524851", "UMLS:C4020854" ], "is_a": [ "HP:0007367" ], "is_obsolete": "", "replace_id": "" }, "HP:0002181": { "name": [ "cerebral edema", "cerebral edema" ], "alt_id": [], "def": "Abnormal accumulation of fluid in the brain.", "synonym": [ [ "brain edema", "brain edema" ], [ "brain oedema", "brain oedema" ], [ "brain swelling", "brain swelling" ], [ "cerebral oedema", "cerebral oedema" ], [ "swelling of brain", "swell of brain" ] ], "xref": [ "MSH:D001929", "SNOMEDCT_US:2032001", "UMLS:C0006114", "UMLS:C1527311" ], "is_a": [ "HP:0000969", "HP:0002060" ], "is_obsolete": "", "replace_id": "" }, "HP:0002183": { "name": [ "phonophobia", "phonophobia" ], "alt_id": [], "def": "An abnormally heightened sensitivity to loud sounds.", "synonym": [ [ "fear of loud sounds", "fear of loud sound" ] ], "xref": [ "MSH:D012001", "SNOMEDCT_US:313387002", "UMLS:C0751466" ], "is_a": [ "HP:0025112" ], "is_obsolete": "", "replace_id": "" }, "HP:0002185": { "name": [ "neurofibrillary tangles", "neurofibrillary tangle" ], "alt_id": [ "HP:0003132", "HP:0007070" ], "def": "Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.", "synonym": [ [ "neurofibrillary tangles composed of disordered microtubules in neurons", "neurofibrillary tangle compose of disordered microtubule in neuron" ], [ "paired helical filaments", "paired helical filament" ] ], "xref": [ "MSH:D016874", "SNOMEDCT_US:85775002", "UMLS:C0085400" ], "is_a": [ "HP:0100314" ], "is_obsolete": "", "replace_id": "" }, "HP:0002186": { "name": [ "apraxia", "apraxia" ], "alt_id": [], "def": "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.", "synonym": [ [ "apraxias", "apraxia" ] ], "xref": [ "MSH:D001072", "SNOMEDCT_US:68345001", "SNOMEDCT_US:6950007", "UMLS:C0003635" ], "is_a": [ "HP:0011442", "HP:0011446" ], "is_obsolete": "", "replace_id": "" }, "HP:0002187": { "name": [ "intellectual disability , profound", "intellectual disability , profound" ], "alt_id": [], "def": "Profound mental retardation is defined as an intelligence quotient (IQ) below 20.", "synonym": [ [ "iq less than 20", "iq less than 20" ], [ "mental retardation , profound", "mental retardation , profound" ], [ "profound mental retardation", "profound mental retardation" ] ], "xref": [ "MSH:D008607", "SNOMEDCT_US:31216003", "UMLS:C0020796", "UMLS:C3161330" ], "is_a": [ "HP:0001249" ], "is_obsolete": "", "replace_id": "" }, "HP:0002188": { "name": [ "delayed cns myelination", "delay cns myelination" ], "alt_id": [ "HP:0005770", "HP:0006974", "HP:0007300" ], "def": "Delayed myelination in the central nervous system.", "synonym": [ [ "delay in central nervous system myelination", "delay in central nervous system myelination" ] ], "xref": [ "UMLS:C4021758" ], "is_a": [ "HP:0011400", "HP:0012448" ], "is_obsolete": "", "replace_id": "" }, "HP:0002189": { "name": [ "obsolete excessive daytime sleepiness", "obsolete excessive daytime sleepiness" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001262" }, "HP:0002190": { "name": [ "choroid plexus cyst", "choroid plexus cyst" ], "alt_id": [], "def": "A cyst occurring within the choroid plexus within a cerebral ventricle.", "synonym": [], "xref": [ "SNOMEDCT_US:230790004", "UMLS:C0338597" ], "is_a": [ "HP:0007376" ], "is_obsolete": "", "replace_id": "" }, "HP:0002191": { "name": [ "progressive spasticity", "progressive spasticity" ], "alt_id": [], "def": "Spasticity that increases in degree with time.", "synonym": [ [ "spasticity , progressive", "spasticity , progressive" ] ], "xref": [ "UMLS:C1859520" ], "is_a": [ "HP:0001257" ], "is_obsolete": "", "replace_id": "" }, "HP:0002193": { "name": [ "pseudobulbar behavioral symptoms", "pseudobulbar behavioral symptom" ], "alt_id": [], "def": "Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.", "synonym": [ [ "pseudobulbar behavioural symptoms", "pseudobulbar behavioural symptom" ] ], "xref": [ "UMLS:C4025720" ], "is_a": [ "HP:0000708", "HP:0002200" ], "is_obsolete": "", "replace_id": "" }, "HP:0002194": { "name": [ "delayed gross motor development", "delay gross motor development" ], "alt_id": [ "HP:0006905", "HP:0007046", "HP:0008973" ], "def": "A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.", "synonym": [ [ "delayed gross motor skills", "delay gross motor skill" ], [ "delayed motor skills", "delay motor skill" ], [ "developmental delay , gross motor", "developmental delay , gross motor" ], [ "gross motor delay", "gross motor delay" ], [ "limited gross motor development", "limited gross motor development" ] ], "xref": [ "SNOMEDCT_US:430099007", "UMLS:C1837658" ], "is_a": [ "HP:0001270" ], "is_obsolete": "", "replace_id": "" }, "HP:0002195": { "name": [ "dysgenesis of the cerebellar vermis", "dysgenesis of the cerebellar vermis" ], "alt_id": [], "def": "Defective development of the vermis of cerebellum.", "synonym": [], "xref": [ "UMLS:C4025719" ], "is_a": [ "HP:0002334" ], "is_obsolete": "", "replace_id": "" }, "HP:0002196": { "name": [ "myelopathy", "myelopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D013118", "SNOMEDCT_US:48522003", "UMLS:C0037928" ], "is_a": [ "HP:0002143" ], "is_obsolete": "", "replace_id": "" }, "HP:0002197": { "name": [ "generalized - onset seizure", "generalize - onset seizure" ], "alt_id": [ "HP:0002409", "HP:0007114", "HP:0007339" ], "def": "A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.", "synonym": [ [ "generalised onset seizure", "generalise onset seizure" ], [ "generalised seizures", "generalise seizure" ], [ "generalised - onset seizure", "generalise - onset seizure" ], [ "generalized onset seizure", "generalize onset seizure" ], [ "generalized seizures", "generalize seizure" ], [ "generalized - onset seizures", "generalize - onset seizure" ], [ "primary generalised seizure", "primary generalise seizure" ], [ "primary generalized seizure", "primary generalize seizure" ] ], "xref": [ "MSH:D012640", "SNOMEDCT_US:246545002", "UMLS:C0234533", "UMLS:C1833488" ], "is_a": [ "HP:0001250" ], "is_obsolete": "", "replace_id": "" }, "HP:0002198": { "name": [ "dilated fourth ventricle", "dilate fourth ventricle" ], "alt_id": [ "HP:0007223" ], "def": "An abnormal dilatation of the fourth cerebral ventricle.", "synonym": [ [ "enlarged fourth ventricle", "enlarge fourth ventricle" ] ], "xref": [ "UMLS:C1847117" ], "is_a": [ "HP:0002119", "HP:0010950" ], "is_obsolete": "", "replace_id": "" }, "HP:0002199": { "name": [ "hypocalcemic seizures", "hypocalcemic seizure" ], "alt_id": [], "def": "", "synonym": [ [ "low calcium seizures", "low calcium seizure" ], [ "seizures due to hypocalcemia", "seizure due to hypocalcemia" ] ], "xref": [ "UMLS:C1855841" ], "is_a": [ "HP:0002901", "HP:0011145" ], "is_obsolete": "", "replace_id": "" }, "HP:0002200": { "name": [ "pseudobulbar signs", "pseudobulbar sign" ], "alt_id": [], "def": "Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.", "synonym": [ [ "pseudobulbar symptoms", "pseudobulbar symptom" ] ], "xref": [ "UMLS:C1838579" ], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0002202": { "name": [ "pleural effusion", "pleural effusion" ], "alt_id": [], "def": "The presence of an excessive amount of fluid in the pleural cavity.", "synonym": [ [ "fluid around lungs", "fluid around lung" ] ], "xref": [ "MSH:D010996", "SNOMEDCT_US:60046008", "UMLS:C0032227" ], "is_a": [ "HP:0000969", "HP:0002103" ], "is_obsolete": "", "replace_id": "" }, "HP:0002203": { "name": [ "respiratory paralysis", "respiratory paralysis" ], "alt_id": [], "def": "Inability to move the muscles of respiration.", "synonym": [], "xref": [ "MSH:D012133", "SNOMEDCT_US:64228003", "UMLS:C0035232" ], "is_a": [ "HP:0003470", "HP:0004347" ], "is_obsolete": "", "replace_id": "" }, "HP:0002204": { "name": [ "pulmonary embolism", "pulmonary embolism" ], "alt_id": [], "def": "An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.", "synonym": [ [ "blood clot in artery of lung", "blood clot in artery of lung" ] ], "xref": [ "MSH:D011655", "SNOMEDCT_US:59282003", "UMLS:C0034065" ], "is_a": [ "HP:0030875" ], "is_obsolete": "", "replace_id": "" }, "HP:0002205": { "name": [ "recurrent respiratory infections", "recurrent respiratory infection" ], "alt_id": [ "HP:0002782", "HP:0002873" ], "def": "An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.", "synonym": [ [ "frequent respiratory infections", "frequent respiratory infection" ], [ "multiple respiratory infections", "multiple respiratory infection" ], [ "recurrent respiratory infections", "recurrent respiratory infection" ], [ "respiratory infections , recurrent", "respiratory infection , recurrent" ], [ "susceptibility to respiratory infections", "susceptibility to respiratory infection" ] ], "xref": [ "UMLS:C3806482" ], "is_a": [ "HP:0002719", "HP:0011947" ], "is_obsolete": "", "replace_id": "" }, "HP:0002206": { "name": [ "pulmonary fibrosis", "pulmonary fibrosis" ], "alt_id": [ "HP:0006523" ], "def": "Replacement of normal lung tissues by fibroblasts and collagen.", "synonym": [], "xref": [ "MSH:D011658", "SNOMEDCT_US:51615001", "UMLS:C0034069" ], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0002207": { "name": [ "diffuse reticular or finely nodular infiltrations", "diffuse reticular or finely nodular infiltration" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1843428" ], "is_a": [ "HP:0002113" ], "is_obsolete": "", "replace_id": "" }, "HP:0002208": { "name": [ "coarse hair", "coarse hair" ], "alt_id": [ "HP:0200078" ], "def": "Hair shafts are rough in texture.", "synonym": [ [ "coarse hair", "coarse hair" ], [ "coarse hair texture", "coarse hair texture" ], [ "rough hair texture", "rough hair texture" ] ], "xref": [ "SNOMEDCT_US:48610005", "UMLS:C0277959", "UMLS:C4072834" ], "is_a": [ "HP:0010719" ], "is_obsolete": "", "replace_id": "" }, "HP:0002209": { "name": [ "sparse scalp hair", "sparse scalp hair" ], "alt_id": [ "HP:0002233", "HP:0002556", "HP:0004526", "HP:0004534", "HP:0004541", "HP:0004542", "HP:0004772", "HP:0004774", "HP:0004775", "HP:0004782" ], "def": "Decreased number of hairs per unit area of skin of the scalp.", "synonym": [ [ "decreased number of scalp follicles", "decreased number of scalp follicle" ], [ "hypotrichosis on scalp", "hypotrichosis on scalp" ], [ "reduced / lack of hair on scalp", "reduce / lack of hair on scalp" ], [ "reduction in the number of scalp follicles", "reduction in the number of scalp follicle" ], [ "scalp hair , thinning", "scalp hair , thin" ], [ "scalp hypotrichosis", "scalp hypotrichosis" ], [ "sparse scalp hair", "sparse scalp hair" ], [ "sparse , thin scalp hair", "sparse , thin scalp hair" ], [ "sparse - absent scalp hair", "sparse - absent scalp hair" ], [ "thin scalp hair", "thin scalp hair" ] ], "xref": [ "UMLS:C1857042", "UMLS:C1873509" ], "is_a": [ "HP:0008070", "HP:0100037" ], "is_obsolete": "", "replace_id": "" }, "HP:0002211": { "name": [ "white forelock", "white forelock" ], "alt_id": [], "def": "A triangular depigmented region of white hairs located in the anterior midline of the scalp.", "synonym": [ [ "poliosis of anterior hair", "poliosis of anterior hair" ], [ "poliosis of forelock hair", "poliosis of forelock hair" ], [ "white part of hair above forehead", "white part of hair above forehead" ] ], "xref": [ "SNOMEDCT_US:247564004", "UMLS:C0344312" ], "is_a": [ "HP:0011365" ], "is_obsolete": "", "replace_id": "" }, "HP:0002212": { "name": [ "curly hair", "curly hair" ], "alt_id": [], "def": "", "synonym": [ [ "curly hair", "curly hair" ] ], "xref": [ "SNOMEDCT_US:225570000", "UMLS:C0558165" ], "is_a": [ "HP:0010719" ], "is_obsolete": "", "replace_id": "" }, "HP:0002213": { "name": [ "fine hair", "fine hair" ], "alt_id": [ "HP:0200132" ], "def": "Hair that is fine or thin to the touch.", "synonym": [ [ "fine hair", "fine hair" ], [ "fine hair shaft", "fine hair shaft" ], [ "fine hair texture", "fine hair texture" ], [ "thin hair", "thin hair" ], [ "thin hair shaft", "thin hair shaft" ], [ "thin hair texture", "thin hair texture" ], [ "thinned hair", "thin hair" ] ], "xref": [ "SNOMEDCT_US:247546006", "UMLS:C0423867" ], "is_a": [ "HP:0010719" ], "is_obsolete": "", "replace_id": "" }, "HP:0002215": { "name": [ "sparse axillary hair", "sparse axillary hair" ], "alt_id": [ "HP:0004514", "HP:0004518", "HP:0004545" ], "def": "Reduced number or density of axillary hair.", "synonym": [ [ "limited armpit hair", "limited armpit hair" ], [ "little underarm hair", "little underarm hair" ], [ "sparse axillary and pubic hair", "sparse axillary and pubic hair" ], [ "sparse scalp , axillary , and pubic hair", "sparse scalp , axillary , and pubic hair" ], [ "sparse to absent axillary hair", "sparse to absent axillary hair" ] ], "xref": [ "UMLS:C1858574" ], "is_a": [ "HP:0008070", "HP:0100134" ], "is_obsolete": "", "replace_id": "" }, "HP:0002216": { "name": [ "premature graying of hair", "premature graying of hair" ], "alt_id": [], "def": "Development of gray hair at a younger than normal age.", "synonym": [ [ "early graying", "early graying" ], [ "early greying", "early greying" ], [ "premature graying", "premature gray" ], [ "premature graying of hair", "premature graying of hair" ], [ "premature graying of the hair", "premature graying of the hair" ], [ "premature greying", "premature grey" ], [ "premature greying of hair", "premature greying of hair" ], [ "premature greying of the hair", "premature greying of the hair" ], [ "premature hair graying", "premature hair gray" ], [ "premature hair greying", "premature hair grey" ] ], "xref": [ "SNOMEDCT_US:387833009", "UMLS:C0263498" ], "is_a": [ "HP:0007495", "HP:0009887" ], "is_obsolete": "", "replace_id": "" }, "HP:0002217": { "name": [ "slow - growing hair", "slow - grow hair" ], "alt_id": [ "HP:0004767", "HP:0004770", "HP:0004781" ], "def": "Hair whose growth is slower than normal.", "synonym": [ [ "slow growing hair", "slow grow hair" ], [ "slow rate of hair growth", "slow rate of hair growth" ], [ "slow speed of hair growth", "slow speed of hair growth" ], [ "slow - growing hair", "slow - grow hair" ] ], "xref": [ "UMLS:C1832348" ], "is_a": [ "HP:0011363" ], "is_obsolete": "", "replace_id": "" }, "HP:0002218": { "name": [ "silver - gray hair", "silver - gray hair" ], "alt_id": [], "def": "Hypopigmented hair that appears silver-gray.", "synonym": [ [ "silver - gray hair", "silver - gray hair" ], [ "silver - gray hair color", "silver - gray hair color" ], [ "silver - gray hair colour", "silver - gray hair colour" ], [ "silvery - gray hair", "silvery - gray hair" ] ], "xref": [ "UMLS:C1836576" ], "is_a": [ "HP:0011358" ], "is_obsolete": "", "replace_id": "" }, "HP:0002219": { "name": [ "facial hypertrichosis", "facial hypertrichosis" ], "alt_id": [], "def": "Excessive, increased hair growth located in the facial region.", "synonym": [ [ "increased facial hair growth", "increase facial hair growth" ] ], "xref": [ "MSH:C565029", "UMLS:C1851400" ], "is_a": [ "HP:0000998" ], "is_obsolete": "", "replace_id": "" }, "HP:0002220": { "name": [ "melanin pigment aggregation in hair shafts", "melanin pigment aggregation in hair shaft" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1843390" ], "is_a": [ "HP:0009887" ], "is_obsolete": "", "replace_id": "" }, "HP:0002221": { "name": [ "absent axillary hair", "absent axillary hair" ], "alt_id": [ "HP:0004549" ], "def": "Absence of axillary hair.", "synonym": [], "xref": [ "UMLS:C1859392" ], "is_a": [ "HP:0002298", "HP:0100134" ], "is_obsolete": "", "replace_id": "" }, "HP:0002223": { "name": [ "absent eyebrow", "absent eyebrow" ], "alt_id": [], "def": "Absence of the eyebrow.", "synonym": [ [ "absent eyebrow", "absent eyebrow" ], [ "absent eyebrows", "absent eyebrow" ], [ "agenesis of eyebrows", "agenesis of eyebrow" ], [ "aplasia of eyebrows", "aplasia of eyebrow" ], [ "failure of development of eyebrows", "failure of development of eyebrow" ], [ "loss of eyebrows", "loss of eyebrow" ], [ "missing eyebrows", "miss eyebrow" ] ], "xref": [ "SNOMEDCT_US:253208007", "SNOMEDCT_US:422441003", "UMLS:C0431448", "UMLS:C0578682", "UMLS:C4280581", "UMLS:C4280582" ], "is_a": [ "HP:0002298", "HP:0100840" ], "is_obsolete": "", "replace_id": "" }, "HP:0002224": { "name": [ "woolly hair", "woolly hair" ], "alt_id": [], "def": "The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.", "synonym": [ [ "afro - textured hair", "afro - textured hair" ], [ "kinked hair", "kink hair" ], [ "kinky hair texture", "kinky hair texture" ], [ "nappy hair texture", "nappy hair texture" ], [ "wooly hair", "wooly hair" ] ], "xref": [ "MEDDRA:10048017 \"Wooly hair\"", "SNOMEDCT_US:52564001", "UMLS:C0343073", "UMLS:C4072835", "UMLS:C4072836", "UMLS:C4073292" ], "is_a": [ "HP:0010719" ], "is_obsolete": "", "replace_id": "" }, "HP:0002225": { "name": [ "sparse pubic hair", "sparse pubic hair" ], "alt_id": [ "HP:0004778" ], "def": "Reduced number or density of pubic hair.", "synonym": [ [ "decreased sexual hair", "decrease sexual hair" ], [ "sparse pubic hair", "sparse pubic hair" ], [ "sparse to absent pubic hair", "sparse to absent pubic hair" ] ], "xref": [ "UMLS:C1858573" ], "is_a": [ "HP:0008070", "HP:0100133" ], "is_obsolete": "", "replace_id": "" }, "HP:0002226": { "name": [ "white eyebrow", "white eyebrow" ], "alt_id": [ "HP:0002228", "HP:0004536" ], "def": "White color (lack of pigmentation) of the eyebrow.", "synonym": [ [ "blonde eyebrow", "blonde eyebrow" ], [ "depigmented eyebrow", "depigmented eyebrow" ], [ "grey eyebrow", "grey eyebrow" ], [ "hypopigmented eyebrow", "hypopigmented eyebrow" ], [ "pale eyebrow", "pale eyebrow" ], [ "white eyebrow", "white eyebrow" ] ], "xref": [ "UMLS:C1836737", "UMLS:C4280579", "UMLS:C4280580" ], "is_a": [ "HP:0000534", "HP:0009887" ], "is_obsolete": "", "replace_id": "" }, "HP:0002227": { "name": [ "white eyelashes", "white eyelash" ], "alt_id": [], "def": "White color (lack of pigmentation) of the eyelashes.", "synonym": [ [ "blonde eyelashes", "blonde eyelash" ], [ "depigmented eyelashes", "depigmented eyelash" ], [ "grey eyelashes", "grey eyelash" ], [ "pale eyelashes", "pale eyelash" ], [ "white eyelashes", "white eyelash" ] ], "xref": [ "UMLS:C1836736", "UMLS:C4280578" ], "is_a": [ "HP:0000499", "HP:0009887" ], "is_obsolete": "", "replace_id": "" }, "HP:0002229": { "name": [ "obsolete alopecia areata", "obsolete alopecia areata" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0002232" }, "HP:0002230": { "name": [ "generalized hirsutism", "generalize hirsutism" ], "alt_id": [], "def": "Abnormally increased hair growth over much of the entire body.", "synonym": [ [ "excessive hairiness over body", "excessive hairiness over body" ], [ "generalised hirsutism", "generalise hirsutism" ] ], "xref": [ "UMLS:C1849211" ], "is_a": [ "HP:0001007" ], "is_obsolete": "", "replace_id": "" }, "HP:0002231": { "name": [ "sparse body hair", "sparse body hair" ], "alt_id": [], "def": "Sparseness of the body hair.", "synonym": [ [ "limited body hair", "limited body hair" ], [ "little body hair", "little body hair" ], [ "sparse body hair", "sparse body hair" ], [ "sparse to absent body hair", "sparse to absent body hair" ] ], "xref": [ "UMLS:C1862863" ], "is_a": [ "HP:0008070" ], "is_obsolete": "", "replace_id": "" }, "HP:0002232": { "name": [ "patchy alopecia", "patchy alopecia" ], "alt_id": [ "HP:0002229" ], "def": "Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.", "synonym": [ [ "alopecia areata", "alopecia areata" ], [ "patchy baldness", "patchy baldness" ] ], "xref": [ "MSH:C531609", "MSH:D000506", "SNOMEDCT_US:68225006", "UMLS:C0002171", "UMLS:C1862862" ], "is_a": [ "HP:0001596", "HP:0011360" ], "is_obsolete": "", "replace_id": "" }, "HP:0002234": { "name": [ "early balding", "early balding" ], "alt_id": [], "def": "Loss of scalp hair at an earlier than normal age.", "synonym": [ [ "early balding", "early balding" ] ], "xref": [ "UMLS:C4025718" ], "is_a": [ "HP:0011360" ], "is_obsolete": "", "replace_id": "" }, "HP:0002235": { "name": [ "pili canaliculi", "pili canaliculus" ], "alt_id": [ "HP:0002285" ], "def": "Uncombable hair.", "synonym": [], "xref": [ "UMLS:C1860608" ], "is_a": [ "HP:0003328" ], "is_obsolete": "", "replace_id": "" }, "HP:0002236": { "name": [ "frontal upsweep of hair", "frontal upsweep of hair" ], "alt_id": [], "def": "Upward and/or sideward growth of anterior hair.", "synonym": [ [ "cowlick", "cowlick" ], [ "frontal cowlick", "frontal cowlick" ], [ "frontal upsweep of hair", "frontal upsweep of hair" ], [ "upswept frontal hair", "upswept frontal hair" ], [ "upswept frontal hair pattern", "upswept frontal hair pattern" ], [ "upswept frontal hairline", "upswept frontal hairline" ] ], "xref": [ "UMLS:C1185616", "UMLS:C2675540", "UMLS:C3275754" ], "is_a": [ "HP:0010721" ], "is_obsolete": "", "replace_id": "" }, "HP:0002239": { "name": [ "gastrointestinal hemorrhage", "gastrointestinal hemorrhage" ], "alt_id": [], "def": "Hemorrhage affecting the gastrointestinal tract.", "synonym": [ [ "gastrointestinal bleeding", "gastrointestinal bleeding" ], [ "gastrointestinal haemorrhage", "gastrointestinal haemorrhage" ], [ "gi haemorrhage", "gi haemorrhage" ], [ "gi hemorrhage", "gi hemorrhage" ] ], "xref": [ "MSH:D006471", "SNOMEDCT_US:74474003", "UMLS:C0017181" ], "is_a": [ "HP:0011029", "HP:0012719" ], "is_obsolete": "", "replace_id": "" }, "HP:0002240": { "name": [ "hepatomegaly", "hepatomegaly" ], "alt_id": [ "HP:0001393", "HP:0001398" ], "def": "Abnormally increased size of the liver.", "synonym": [ [ "enlarged liver", "enlarge liver" ] ], "xref": [ "MSH:D006529", "SNOMEDCT_US:80515008", "UMLS:C0019209" ], "is_a": [ "HP:0003271", "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0002242": { "name": [ "abnormal intestine morphology", "abnormal intestine morphology" ], "alt_id": [ "HP:0002628" ], "def": "An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.", "synonym": [ [ "abnormality of the intestine", "abnormality of the intestine" ], [ "enteropathy", "enteropathy" ] ], "xref": [ "MSH:D007410", "SNOMEDCT_US:85919009", "UMLS:C0021831" ], "is_a": [ "HP:0012718" ], "is_obsolete": "", "replace_id": "" }, "HP:0002243": { "name": [ "protein - losing enteropathy", "protein - losing enteropathy" ], "alt_id": [], "def": "Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.", "synonym": [], "xref": [ "MSH:D011504", "SNOMEDCT_US:22542007", "SNOMEDCT_US:66972006", "UMLS:C0033680" ], "is_a": [ "HP:0002244" ], "is_obsolete": "", "replace_id": "" }, "HP:0002244": { "name": [ "abnormality of the small intestine", "abnormality of the small intestine" ], "alt_id": [], "def": "An abnormality of the small intestine.", "synonym": [], "xref": [ "UMLS:C4025717" ], "is_a": [ "HP:0002242" ], "is_obsolete": "", "replace_id": "" }, "HP:0002245": { "name": [ "meckel diverticulum", "meckel diverticulum" ], "alt_id": [], "def": "Meckel's diverticulum is a congenital diverticulum located in the distal ileum.", "synonym": [], "xref": [ "MEDDRA:10027055 \"Meckel's diverticulum\"", "MSH:D008467", "SNOMEDCT_US:127962001", "SNOMEDCT_US:37373007", "UMLS:C0025037" ], "is_a": [ "HP:0001549" ], "is_obsolete": "", "replace_id": "" }, "HP:0002246": { "name": [ "abnormal duodenum morphology", "abnormal duodenum morphology" ], "alt_id": [], "def": "An abnormality of the duodenum, i.e., the first section of the small intestine.", "synonym": [ [ "abnormality of the duodenum", "abnormality of the duodenum" ] ], "xref": [ "UMLS:C4025716" ], "is_a": [ "HP:0002244" ], "is_obsolete": "", "replace_id": "" }, "HP:0002247": { "name": [ "duodenal atresia", "duodenal atresia" ], "alt_id": [], "def": "A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.", "synonym": [ [ "absence or narrowing of first part of small bowel", "absence or narrowing of first part of small bowel" ] ], "xref": [ "Fyler:4406", "MEDDRA:10013812 \"Duodenal atresia\"", "MSH:C535720", "SNOMEDCT_US:51118003", "UMLS:C0266174" ], "is_a": [ "HP:0002246", "HP:0011100" ], "is_obsolete": "", "replace_id": "" }, "HP:0002248": { "name": [ "hematemesis", "hematemesis" ], "alt_id": [], "def": "The vomiting of blood.", "synonym": [ [ "vomitting blood", "vomitting blood" ] ], "xref": [ "MSH:D006396", "SNOMEDCT_US:8765009", "UMLS:C0018926" ], "is_a": [ "HP:0002239" ], "is_obsolete": "", "replace_id": "" }, "HP:0002249": { "name": [ "melena", "melena" ], "alt_id": [], "def": "The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.", "synonym": [ [ "black faeces", "black faeces" ], [ "black feces", "black feces" ] ], "xref": [ "MSH:D008551", "SNOMEDCT_US:249627005", "SNOMEDCT_US:267055007", "SNOMEDCT_US:269899009", "SNOMEDCT_US:2901004", "SNOMEDCT_US:35064005", "UMLS:C0025222", "UMLS:C0474585" ], "is_a": [ "HP:0002239", "HP:0025085" ], "is_obsolete": "", "replace_id": "" }, "HP:0002250": { "name": [ "abnormal large intestine morphology", "abnormal large intestine morphology" ], "alt_id": [], "def": "Any abnormality of the large intestine.", "synonym": [ [ "abnormality of the large intestine", "abnormality of the large intestine" ] ], "xref": [ "UMLS:C4025715" ], "is_a": [ "HP:0002242" ], "is_obsolete": "", "replace_id": "" }, "HP:0002251": { "name": [ "aganglionic megacolon", "aganglionic megacolon" ], "alt_id": [ "HP:0002029", "HP:0002030", "HP:0002606", "HP:0004391" ], "def": "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.", "synonym": [ [ "congenital megacolon", "congenital megacolon" ], [ "enlarged colon lacking nerve cells", "enlarge colon lack nerve cell" ], [ "hirschsprung disease", "hirschsprung disease" ], [ "hirschsprung megacolon", "hirschsprung megacolon" ], [ "megacolon", "megacolon" ] ], "xref": [ "MEDDRA:10027110 \"Megacolon\"", "MSH:D006627", "MSH:D008531", "SNOMEDCT_US:204739008", "SNOMEDCT_US:33995003", "SNOMEDCT_US:367495003", "UMLS:C0019569", "UMLS:C0025160" ], "is_a": [ "HP:0004362" ], "is_obsolete": "", "replace_id": "" }, "HP:0002253": { "name": [ "colonic diverticula", "colonic diverticulum" ], "alt_id": [ "HP:0005860" ], "def": "The presence of multiple diverticula of the colon.", "synonym": [ [ "colon diverticula", "colon diverticulum" ], [ "colonic diverticulosis", "colonic diverticulosis" ] ], "xref": [ "MEDDRA:10009993 \"Colonic diverticulosis\"", "MSH:D004241", "MSH:D043963", "SNOMEDCT_US:398050005", "UMLS:C0012811", "UMLS:C0012819" ], "is_a": [ "HP:0002250", "HP:0005222" ], "is_obsolete": "", "replace_id": "" }, "HP:0002254": { "name": [ "intermittent diarrhea", "intermittent diarrhea" ], "alt_id": [], "def": "Repeated episodes of diarrhea separated by periods without diarrhea.", "synonym": [ [ "episodic diarrhea", "episodic diarrhea" ], [ "episodic diarrhoea", "episodic diarrhoea" ], [ "intermittent diarrhoea", "intermittent diarrhoea" ] ], "xref": [ "UMLS:C0239181" ], "is_a": [ "HP:0002014" ], "is_obsolete": "", "replace_id": "" }, "HP:0002256": { "name": [ "small bowel diverticula", "small bowel diverticulum" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MEDDRA:10013533 \"Diverticula of small intestine\"", "SNOMEDCT_US:8114009", "UMLS:C0267498" ], "is_a": [ "HP:0002244", "HP:0005222" ], "is_obsolete": "", "replace_id": "" }, "HP:0002257": { "name": [ "chronic rhinitis", "chronic rhinitis" ], "alt_id": [], "def": "Chronic inflammation of the nasal mucosa.", "synonym": [], "xref": [ "SNOMEDCT_US:86094006", "UMLS:C0008711" ], "is_a": [ "HP:0012384" ], "is_obsolete": "", "replace_id": "" }, "HP:0002263": { "name": [ "exaggerated cupid 's bow", "exaggerated cupid 's bow" ], "alt_id": [], "def": "More pronounced paramedian peaks and median notch of the Cupid's bow.", "synonym": [ [ "cupid bow upper lip", "cupid bow upper lip" ], [ "cupid 's bow , accentuated", "cupid 's bow , accentuate" ], [ "cupid - bow shaped upper lip", "cupid - bow shape upper lip" ], [ "exaggerated cupid 's bow", "exaggerated cupid 's bow" ], [ "prominent cupid - bow of upper lip", "prominent cupid - bow of upper lip" ] ], "xref": [ "UMLS:C1850629" ], "is_a": [ "HP:0011339" ], "is_obsolete": "", "replace_id": "" }, "HP:0002265": { "name": [ "large fleshy ears", "large fleshy ear" ], "alt_id": [], "def": "", "synonym": [ [ "large fleshy ears", "large fleshy ear" ] ], "xref": [ "UMLS:C3808403" ], "is_a": [ "HP:0000400" ], "is_obsolete": "", "replace_id": "" }, "HP:0002266": { "name": [ "focal clonic seizure", "focal clonic seizure" ], "alt_id": [], "def": "A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.", "synonym": [ [ "focal clonic seizures", "focal clonic seizure" ], [ "localised clonic seizure", "localise clonic seizure" ], [ "localized clonic seizure", "localize clonic seizure" ], [ "partial clonic seizure", "partial clonic seizure" ], [ "segmental clonic seizure", "segmental clonic seizure" ] ], "xref": [ "MSH:D020938", "UMLS:C0752323" ], "is_a": [ "HP:0011153", "HP:0020221" ], "is_obsolete": "", "replace_id": "" }, "HP:0002267": { "name": [ "exaggerated startle response", "exaggerated startle response" ], "alt_id": [], "def": "An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.", "synonym": [ [ "exaggerated acoustic startle response", "exaggerated acoustic startle response" ], [ "hyperekplexia", "hyperekplexia" ], [ "increased startle response", "increase startle response" ] ], "xref": [ "MSH:D000071017", "SNOMEDCT_US:19557000", "UMLS:C0234166", "UMLS:C1740801", "UMLS:C1836014", "UMLS:C1848918" ], "is_a": [ "HP:0002071" ], "is_obsolete": "", "replace_id": "" }, "HP:0002268": { "name": [ "paroxysmal dystonia", "paroxysmal dystonia" ], "alt_id": [ "HP:0002412" ], "def": "A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.", "synonym": [ [ "episodic dystonia", "episodic dystonia" ] ], "xref": [ "MSH:D004421", "SNOMEDCT_US:230310003", "UMLS:C0393588" ], "is_a": [ "HP:0001332" ], "is_obsolete": "", "replace_id": "" }, "HP:0002269": { "name": [ "abnormality of neuronal migration", "abnormality of neuronal migration" ], "alt_id": [ "HP:0007317" ], "def": "An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.", "synonym": [ [ "abnormal neuronal migration", "abnormal neuronal migration" ], [ "heterotopias / abnormal migration", "heterotopias / abnormal migration" ], [ "migrational brain disorder", "migrational brain disorder" ], [ "neuronal migration disorder", "neuronal migration disorder" ] ], "xref": [ "MSH:D054081", "UMLS:C1837249" ], "is_a": [ "HP:0002011" ], "is_obsolete": "", "replace_id": "" }, "HP:0002270": { "name": [ "abnormality of the autonomic nervous system", "abnormality of the autonomic nervous system" ], "alt_id": [], "def": "An abnormality of the autonomic nervous system.", "synonym": [], "xref": [ "UMLS:C4025714" ], "is_a": [ "HP:0410008" ], "is_obsolete": "", "replace_id": "" }, "HP:0002271": { "name": [ "obsolete autonomic dysregulation", "obsolete autonomic dysregulation" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0012332" }, "HP:0002273": { "name": [ "tetraparesis", "tetraparesis" ], "alt_id": [ "HP:0002338" ], "def": "Weakness of all four limbs.", "synonym": [ [ "quadriparesis", "quadriparesis" ] ], "xref": [ "MSH:D011782", "SNOMEDCT_US:91327001", "UMLS:C0270790" ], "is_a": [ "HP:0030182" ], "is_obsolete": "", "replace_id": "" }, "HP:0002275": { "name": [ "poor motor coordination", "poor motor coordination" ], "alt_id": [], "def": "", "synonym": [ [ "poor motor coordination", "poor motor coordination" ] ], "xref": [ "UMLS:C1848453" ], "is_a": [ "HP:0011443" ], "is_obsolete": "", "replace_id": "" }, "HP:0002277": { "name": [ "horner syndrome", "horner syndrome" ], "alt_id": [ "HP:0000596" ], "def": "An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.", "synonym": [ [ "horner 's syndrome", "horner 's syndrome" ], [ "oculosympathetic palsy", "oculosympathetic palsy" ] ], "xref": [ "MSH:D006732", "SNOMEDCT_US:12731000", "SNOMEDCT_US:192915005", "SNOMEDCT_US:271730003", "UMLS:C0019937" ], "is_a": [ "HP:0000508", "HP:0000616", "HP:0012332" ], "is_obsolete": "", "replace_id": "" }, "HP:0002280": { "name": [ "enlarged cisterna magna", "enlarge cisterna magna" ], "alt_id": [], "def": "Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.", "synonym": [ [ "large cisterna magna", "large cisterna magna" ], [ "mega cisterna magna", "mega cisterna magna" ] ], "xref": [ "UMLS:C1853377" ], "is_a": [ "HP:0005445" ], "is_obsolete": "", "replace_id": "" }, "HP:0002281": { "name": [ "obsolete gray matter heterotopias", "obsolete gray matter heterotopias" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0002282" }, "HP:0002282": { "name": [ "gray matter heterotopia", "gray matter heterotopia" ], "alt_id": [ "HP:0002281", "HP:0007314" ], "def": "Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.", "synonym": [ [ "gray matter heterotopias", "gray matter heterotopias" ], [ "grey matter heterotopia", "grey matter heterotopia" ], [ "grey matter heterotopias", "grey matter heterotopias" ], [ "heterotopia", "heterotopia" ], [ "heterotopias", "heterotopias" ], [ "neuronal heterotopia", "neuronal heterotopia" ] ], "xref": [ "MSH:D002828", "SNOMEDCT_US:128490007", "SNOMEDCT_US:416286003", "SNOMEDCT_US:417338002", "UMLS:C0008519" ], "is_a": [ "HP:0002269" ], "is_obsolete": "", "replace_id": "" }, "HP:0002283": { "name": [ "global brain atrophy", "global brain atrophy" ], "alt_id": [ "HP:0002369", "HP:0002462" ], "def": "Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.", "synonym": [ [ "diffuse brain atrophy", "diffuse brain atrophy" ], [ "generalised brain atrophy", "generalise brain atrophy" ], [ "generalised brain degeneration", "generalise brain degeneration" ], [ "generalised cerebral atrophy", "generalised cerebral atrophy" ], [ "generalized brain atrophy", "generalize brain atrophy" ], [ "generalized brain degeneration", "generalize brain degeneration" ], [ "generalized cerebral atrophy", "generalize cerebral atrophy" ] ], "xref": [ "UMLS:C0241816" ], "is_a": [ "HP:0002977", "HP:0012444" ], "is_obsolete": "", "replace_id": "" }, "HP:0002286": { "name": [ "fair hair", "fair hair" ], "alt_id": [ "HP:0002214", "HP:0002294" ], "def": "A lesser degree of hair pigmentation than would otherwise be expected.", "synonym": [ [ "blond hair", "blond hair" ], [ "fair hair", "fair hair" ], [ "fair hair color", "fair hair color" ], [ "fair hair colour", "fair hair colour" ], [ "flaxen hair color", "flaxen hair color" ], [ "flaxen hair colour", "flaxen hair colour" ], [ "light colored hair", "light color hair" ], [ "light coloured hair", "light colour hair" ], [ "sandy hair color", "sandy hair color" ], [ "sandy hair colour", "sandy hair colour" ], [ "straw colored hair", "straw color hair" ], [ "straw coloured hair", "straw colour hair" ], [ "towhead ( hair color )", "towhead ( hair color )" ] ], "xref": [ "SNOMEDCT_US:297995004", "UMLS:C0239801", "UMLS:C1849221" ], "is_a": [ "HP:0011358" ], "is_obsolete": "", "replace_id": "" }, "HP:0002287": { "name": [ "progressive alopecia", "progressive alopecia" ], "alt_id": [], "def": "Progressive loss of hair.", "synonym": [], "xref": [ "UMLS:C1851885" ], "is_a": [ "HP:0001596" ], "is_obsolete": "", "replace_id": "" }, "HP:0002289": { "name": [ "alopecia universalis", "alopecia universalis" ], "alt_id": [ "HP:0004550" ], "def": "Loss of all hair on the entire body.", "synonym": [ [ "alopecia , complete", "alopecia , complete" ], [ "universal alopecia", "universal alopecia" ] ], "xref": [ "MSH:C537055", "SNOMEDCT_US:86166000", "UMLS:C0263505" ], "is_a": [ "HP:0001596" ], "is_obsolete": "", "replace_id": "" }, "HP:0002290": { "name": [ "poliosis", "poliosis" ], "alt_id": [], "def": "Circumscribed depigmentation of the hair of the head or the eyelashes.", "synonym": [ [ "patch of white hair", "patch of white hair" ], [ "white patch", "white patch" ] ], "xref": [ "SNOMEDCT_US:14240001", "UMLS:C0221262" ], "is_a": [ "HP:0011365" ], "is_obsolete": "", "replace_id": "" }, "HP:0002292": { "name": [ "frontal balding", "frontal balding" ], "alt_id": [], "def": "Absence of hair in the anterior midline and/or parietal areas.", "synonym": [ [ "frontal balding", "frontal balding" ], [ "male pattern baldness", "male pattern baldness" ] ], "xref": [ "MSH:D000505", "SNOMEDCT_US:87872006", "UMLS:C1864584", "UMLS:C4083212" ], "is_a": [ "HP:0011360" ], "is_obsolete": "", "replace_id": "" }, "HP:0002293": { "name": [ "alopecia of scalp", "alopecia of scalp" ], "alt_id": [ "HP:0200115" ], "def": "", "synonym": [ [ "absence of scalp hair", "absence of scalp hair" ], [ "baldness", "baldness" ], [ "missing scalp hair", "miss scalp hair" ], [ "pathologic hair loss from scalp", "pathologic hair loss from scalp" ], [ "scalp hair loss", "scalp hair loss" ] ], "xref": [ "MSH:D000505", "SNOMEDCT_US:278040002", "SNOMEDCT_US:298000004", "SNOMEDCT_US:56317004", "UMLS:C0002170", "UMLS:C0574769", "UMLS:C1850535" ], "is_a": [ "HP:0001596", "HP:0100037" ], "is_obsolete": "", "replace_id": "" }, "HP:0002296": { "name": [ "progressive hypotrichosis", "progressive hypotrichosis" ], "alt_id": [], "def": "Progressively reduced or lacking hair growth.", "synonym": [], "xref": [ "UMLS:C1857048" ], "is_a": [ "HP:0008070" ], "is_obsolete": "", "replace_id": "" }, "HP:0002297": { "name": [ "red hair", "red hair" ], "alt_id": [], "def": "", "synonym": [ [ "ginger hair color", "ginger hair color" ], [ "ginger hair colour", "ginger hair colour" ], [ "red hair", "red hair" ], [ "red hair color", "red hair color" ], [ "red hair colour", "red hair colour" ], [ "red head ( hair color )", "red head ( hair color )" ] ], "xref": [ "SNOMEDCT_US:297997007", "UMLS:C0239803" ], "is_a": [ "HP:0009887" ], "is_obsolete": "", "replace_id": "" }, "HP:0002298": { "name": [ "absent hair", "absent hair" ], "alt_id": [ "HP:0004548" ], "def": "", "synonym": [ [ "absent hair", "absent hair" ] ], "xref": [ "SNOMEDCT_US:297991008", "UMLS:C0574763" ], "is_a": [ "HP:0011362" ], "is_obsolete": "", "replace_id": "" }, "HP:0002299": { "name": [ "brittle hair", "brittle hair" ], "alt_id": [], "def": "Fragile, easily breakable hair, i.e., with reduced tensile strength.", "synonym": [ [ "brittle hair", "brittle hair" ], [ "easily breakable hair", "easily breakable hair" ], [ "fractured hair", "fracture hair" ], [ "fragile hair", "fragile hair" ], [ "reduced tensile strength of hair", "reduce tensile strength of hair" ] ], "xref": [ "SNOMEDCT_US:25159003", "UMLS:C0263490", "UMLS:C1851868", "UMLS:C1970705", "UMLS:C4072837" ], "is_a": [ "HP:0010719" ], "is_obsolete": "", "replace_id": "" }, "HP:0002300": { "name": [ "mutism", "mutism" ], "alt_id": [], "def": "", "synonym": [ [ "inability to speak", "inability to speak" ], [ "muteness", "muteness" ] ], "xref": [ "MSH:D009155", "SNOMEDCT_US:88052002", "UMLS:C0026884" ], "is_a": [ "HP:0000708", "HP:0002167" ], "is_obsolete": "", "replace_id": "" }, "HP:0002301": { "name": [ "hemiplegia", "hemiplegia" ], "alt_id": [], "def": "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.", "synonym": [ [ "paralysis on one side of body", "paralysis on one side of body" ] ], "xref": [ "MSH:D006429", "SNOMEDCT_US:50582007", "UMLS:C0018991" ], "is_a": [ "HP:0004374" ], "is_obsolete": "", "replace_id": "" }, "HP:0002304": { "name": [ "akinesia", "akinesia" ], "alt_id": [], "def": "Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.", "synonym": [], "xref": [ "SNOMEDCT_US:33994004", "UMLS:C0085623" ], "is_a": [ "HP:0002374" ], "is_obsolete": "", "replace_id": "" }, "HP:0002305": { "name": [ "athetosis", "athetosis" ], "alt_id": [ "HP:0007167", "HP:0007316" ], "def": "A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.", "synonym": [ [ "athetoid movements", "athetoid movement" ], [ "involuntary writhing movements", "involuntary writhing movement" ], [ "involuntary writhing movements in fingers , hands , toes , and feet", "involuntary writhe movement in finger , hand , toe , and foot" ] ], "xref": [ "MSH:D001264", "SNOMEDCT_US:44913001", "SNOMEDCT_US:58593005", "UMLS:C0004158", "UMLS:C1845265" ], "is_a": [ "HP:0004305" ], "is_obsolete": "", "replace_id": "" }, "HP:0002307": { "name": [ "drooling", "drool" ], "alt_id": [], "def": "Habitual flow of saliva out of the mouth.", "synonym": [ [ "dribbling", "dribble" ], [ "drooling", "drool" ], [ "sialorrhea", "sialorrhea" ] ], "xref": [ "MSH:D012798", "SNOMEDCT_US:275295002", "SNOMEDCT_US:53827007", "SNOMEDCT_US:62718007", "UMLS:C0013132", "UMLS:C0037036" ], "is_a": [ "HP:0000708", "HP:0003781" ], "is_obsolete": "", "replace_id": "" }, "HP:0002308": { "name": [ "arnold - chiari malformation", "arnold - chiari malformation" ], "alt_id": [], "def": "Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.", "synonym": [ [ "chiari malformation", "chiari malformation" ] ], "xref": [ "MSH:D001139", "SNOMEDCT_US:253184003", "UMLS:C0003803" ], "is_a": [ "HP:0002438" ], "is_obsolete": "", "replace_id": "" }, "HP:0002310": { "name": [ "orofacial dyskinesia", "orofacial dyskinesia" ], "alt_id": [], "def": "", "synonym": [ [ "orofacial dyskinesias", "orofacial dyskinesia" ] ], "xref": [ "MSH:D020820", "SNOMEDCT_US:49386006", "UMLS:C0152115" ], "is_a": [ "HP:0100660" ], "is_obsolete": "", "replace_id": "" }, "HP:0002311": { "name": [ "incoordination", "incoordination" ], "alt_id": [ "HP:0002276" ], "def": "", "synonym": [ [ "difficulties in coordination", "difficulty in coordination" ], [ "incoordination", "incoordination" ], [ "incoordination of limb movements", "incoordination of limb movement" ], [ "limb incoordination", "limb incoordination" ] ], "xref": [ "MSH:D001259", "SNOMEDCT_US:281016006", "SNOMEDCT_US:302289002", "UMLS:C0520966" ], "is_a": [ "HP:0011443" ], "is_obsolete": "", "replace_id": "" }, "HP:0002312": { "name": [ "clumsiness", "clumsiness" ], "alt_id": [], "def": "Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.", "synonym": [ [ "clumsiness", "clumsiness" ] ], "xref": [ "SNOMEDCT_US:7006003", "UMLS:C0233844" ], "is_a": [ "HP:0002311" ], "is_obsolete": "", "replace_id": "" }, "HP:0002313": { "name": [ "spastic paraparesis", "spastic paraparesis" ], "alt_id": [ "HP:0007191" ], "def": "", "synonym": [], "xref": [ "MSH:D020336", "SNOMEDCT_US:312444006", "UMLS:C0037771" ], "is_a": [ "HP:0002061", "HP:0002385" ], "is_obsolete": "", "replace_id": "" }, "HP:0002314": { "name": [ "degeneration of the lateral corticospinal tracts", "degeneration of the lateral corticospinal tract" ], "alt_id": [ "HP:0007254" ], "def": "Deterioration of the tissues of the lateral corticospinal tracts.", "synonym": [ [ "degeneration of lateral corticospinal tracts", "degeneration of lateral corticospinal tract" ] ], "xref": [ "UMLS:C1846566" ], "is_a": [ "HP:0007372" ], "is_obsolete": "", "replace_id": "" }, "HP:0002315": { "name": [ "headache", "headache" ], "alt_id": [ "HP:0000266", "HP:0001354" ], "def": "Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.", "synonym": [ [ "headache", "headache" ], [ "headaches", "headache" ] ], "xref": [ "MSH:D006261", "SNOMEDCT_US:25064002", "UMLS:C0018681" ], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0002317": { "name": [ "unsteady gait", "unsteady gait" ], "alt_id": [], "def": "", "synonym": [ [ "gait instability", "gait instability" ], [ "unsteady walk", "unsteady walk" ] ], "xref": [ "MSH:D020233", "SNOMEDCT_US:22631008", "SNOMEDCT_US:394616008", "UMLS:C0231686" ], "is_a": [ "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0002318": { "name": [ "cervical myelopathy", "cervical myelopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:202664003", "UMLS:C0149645" ], "is_a": [ "HP:0002196" ], "is_obsolete": "", "replace_id": "" }, "HP:0002321": { "name": [ "vertigo", "vertigo" ], "alt_id": [], "def": "An abnormal sensation of spinning while the body is actually stationary.", "synonym": [ [ "dizziness", "dizziness" ], [ "dizzy spell", "dizzy spell" ] ], "xref": [ "MSH:D004244", "MSH:D014717", "SNOMEDCT_US:271789005", "SNOMEDCT_US:399090003", "SNOMEDCT_US:399153001", "SNOMEDCT_US:404640003", "UMLS:C0012833", "UMLS:C0042571" ], "is_a": [ "HP:0001751" ], "is_obsolete": "", "replace_id": "" }, "HP:0002322": { "name": [ "resting tremor", "rest tremor" ], "alt_id": [], "def": "A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.", "synonym": [ [ "parkinsonian tremor", "parkinsonian tremor" ], [ "rest tremor", "rest tremor" ], [ "resting tremor", "rest tremor" ], [ "tremor at rest", "tremor at rest" ] ], "xref": [ "MSH:D014202", "SNOMEDCT_US:25082004", "UMLS:C0234379" ], "is_a": [ "HP:0001337" ], "is_obsolete": "", "replace_id": "" }, "HP:0002323": { "name": [ "anencephaly", "anencephaly" ], "alt_id": [], "def": "Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development.", "synonym": [ [ "embryonic anencephaly", "embryonic anencephaly" ], [ "fetal anencephaly", "fetal anencephaly" ], [ "foetal anencephaly", "foetal anencephaly" ] ], "xref": [ "Fyler:4332", "MSH:D000757", "SNOMEDCT_US:89369001", "UMLS:C0002902" ], "is_a": [ "HP:0007364" ], "is_obsolete": "", "replace_id": "" }, "HP:0002324": { "name": [ "hydranencephaly", "hydranencephaly" ], "alt_id": [], "def": "A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue.", "synonym": [ [ "hydrancephaly", "hydrancephaly" ] ], "xref": [ "MSH:D006832", "SNOMEDCT_US:30023002", "UMLS:C0020225" ], "is_a": [ "HP:0002323" ], "is_obsolete": "", "replace_id": "" }, "HP:0002326": { "name": [ "transient ischemic attack", "transient ischemic attack" ], "alt_id": [], "def": "", "synonym": [ [ "mini stroke", "mini stroke" ], [ "transient ischaemic attack", "transient ischaemic attack" ], [ "transient ischaemic attacks", "transient ischaemic attack" ], [ "transient ischemic attacks", "transient ischemic attack" ] ], "xref": [ "MSH:D002546", "UMLS:C0917805" ], "is_a": [ "HP:0001297", "HP:0002637" ], "is_obsolete": "", "replace_id": "" }, "HP:0002329": { "name": [ "drowsiness", "drowsiness" ], "alt_id": [], "def": "Excessive daytime sleepiness.", "synonym": [ [ "drowsiness", "drowsiness" ], [ "sleepy", "sleepy" ] ], "xref": [ "MSH:D012894", "SNOMEDCT_US:271782001", "SNOMEDCT_US:79519003", "UMLS:C0013144" ], "is_a": [ "HP:0004372" ], "is_obsolete": "", "replace_id": "" }, "HP:0002330": { "name": [ "paroxysmal drowsiness", "paroxysmal drowsiness" ], "alt_id": [], "def": "Attacks of disabling daytime drowsiness and low alertness.", "synonym": [], "xref": [ "UMLS:C4025713" ], "is_a": [ "HP:0002329" ], "is_obsolete": "", "replace_id": "" }, "HP:0002331": { "name": [ "recurrent paroxysmal headache", "recurrent paroxysmal headache" ], "alt_id": [], "def": "Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.", "synonym": [], "xref": [ "UMLS:C1854337" ], "is_a": [ "HP:0002315" ], "is_obsolete": "", "replace_id": "" }, "HP:0002332": { "name": [ "lack of peer relationships", "lack of peer relationship" ], "alt_id": [], "def": "", "synonym": [ [ "lack of peer relationships", "lack of peer relationship" ] ], "xref": [ "UMLS:C1845337" ], "is_a": [ "HP:0000735" ], "is_obsolete": "", "replace_id": "" }, "HP:0002333": { "name": [ "motor deterioration", "motor deterioration" ], "alt_id": [], "def": "Loss of previously present motor (i.e., movement) abilities.", "synonym": [ [ "progressive degeneration of movement", "progressive degeneration of movement" ] ], "xref": [ "UMLS:C1866284" ], "is_a": [ "HP:0001268" ], "is_obsolete": "", "replace_id": "" }, "HP:0002334": { "name": [ "abnormal cerebellar vermis morphology", "abnormal cerebellar vermis morphology" ], "alt_id": [], "def": "An anomaly of the vermis of cerebellum.", "synonym": [ [ "abnormality of the cerebellar vermis", "abnormality of the cerebellar vermis" ] ], "xref": [ "UMLS:C4025712" ], "is_a": [ "HP:0001317" ], "is_obsolete": "", "replace_id": "" }, "HP:0002335": { "name": [ "agenesis of cerebellar vermis", "agenesis of cerebellar vermis" ], "alt_id": [ "HP:0007125" ], "def": "Congenital absence of the vermis of cerebellum.", "synonym": [ [ "cerebellar vermis aplasia", "cerebellar vermis aplasia" ], [ "vermian agenesis", "vermian agenesis" ] ], "xref": [ "MSH:C536293", "SNOMEDCT_US:253175003", "SNOMEDCT_US:716997004", "UMLS:C0431399" ], "is_a": [ "HP:0006817" ], "is_obsolete": "", "replace_id": "" }, "HP:0002339": { "name": [ "abnormal caudate nucleus morphology", "abnormal caudate nucleus morphology" ], "alt_id": [], "def": "Any structural abnormality of the caudate nucleus.", "synonym": [ [ "abnormality of the caudate nucleus", "abnormality of the caudate nucleus" ] ], "xref": [ "UMLS:C4025711" ], "is_a": [ "HP:0010994" ], "is_obsolete": "", "replace_id": "" }, "HP:0002340": { "name": [ "caudate atrophy", "caudate atrophy" ], "alt_id": [], "def": "", "synonym": [ [ "caudate degeneration", "caudate degeneration" ] ], "xref": [ "UMLS:C1858116" ], "is_a": [ "HP:0007374" ], "is_obsolete": "", "replace_id": "" }, "HP:0002341": { "name": [ "cervical cord compression", "cervical cord compression" ], "alt_id": [ "HP:0007145" ], "def": "Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.", "synonym": [ [ "cervical cord compression myelopathy", "cervical cord compression myelopathy" ] ], "xref": [ "UMLS:C0852866" ], "is_a": [ "HP:0002176" ], "is_obsolete": "", "replace_id": "" }, "HP:0002342": { "name": [ "intellectual disability , moderate", "intellectual disability , moderate" ], "alt_id": [ "HP:0007303" ], "def": "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.", "synonym": [ [ "iq between 34 and 49", "iq between 34 and 49" ], [ "mental retardation , moderate", "mental retardation , moderate" ], [ "moderate mental deficiency", "moderate mental deficiency" ], [ "moderate mental retardation", "moderate mental retardation" ] ], "xref": [ "SNOMEDCT_US:61152003", "UMLS:C0026351" ], "is_a": [ "HP:0001249" ], "is_obsolete": "", "replace_id": "" }, "HP:0002343": { "name": [ "normal pressure hydrocephalus", "normal pressure hydrocephalus" ], "alt_id": [], "def": "A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture.", "synonym": [ [ "normal - pressure hydrocephalus", "normal - pressure hydrocephalus" ] ], "xref": [ "MSH:D006850", "SNOMEDCT_US:30753002", "UMLS:C0020258" ], "is_a": [ "HP:0000238" ], "is_obsolete": "", "replace_id": "" }, "HP:0002344": { "name": [ "progressive neurologic deterioration", "progressive neurologic deterioration" ], "alt_id": [], "def": "", "synonym": [ [ "neurologic deterioration", "neurologic deterioration" ], [ "neurologic deterioration , progressive", "neurologic deterioration , progressive" ], [ "progressive mental deterioration", "progressive mental deterioration" ], [ "progressive neurodegeneration", "progressive neurodegeneration" ], [ "worsening neurological symptoms", "worsen neurological symptom" ] ], "xref": [ "UMLS:C1854838" ], "is_a": [ "HP:0001268" ], "is_obsolete": "", "replace_id": "" }, "HP:0002345": { "name": [ "action tremor", "action tremor" ], "alt_id": [], "def": "A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.", "synonym": [ [ "ataxic tremor", "ataxic tremor" ] ], "xref": [ "MSH:D014202", "SNOMEDCT_US:30721006", "UMLS:C0234376", "UMLS:C4020853" ], "is_a": [ "HP:0001337" ], "is_obsolete": "", "replace_id": "" }, "HP:0002346": { "name": [ "head tremor", "head tremor" ], "alt_id": [], "def": "An unintentional, oscillating to-and-fro muscle movement affecting head movement.", "synonym": [ [ "head tremor", "head tremor" ] ], "xref": [ "UMLS:C0239882" ], "is_a": [ "HP:0030188" ], "is_obsolete": "", "replace_id": "" }, "HP:0002349": { "name": [ "focal aware seizure", "focal aware seizure" ], "alt_id": [], "def": "A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.", "synonym": [ [ "focal aware seizures", "focal aware seizure" ], [ "focal seizure with retained awareness", "focal seizure with retained awareness" ], [ "focal seizure without impairment of awareness", "focal seizure without impairment of awareness" ], [ "focal seizure without impairment of consciousness or awareness", "focal seizure without impairment of consciousness or awareness" ], [ "focal seizures without impairment of consciousness or awareness", "focal seizure without impairment of consciousness or awareness" ], [ "partial seizure with retained awareness", "partial seizure with retained awareness" ], [ "partial seizure without impairment of awareness", "partial seizure without impairment of awareness" ], [ "simple partial seizure", "simple partial seizure" ], [ "simple partial seizures", "simple partial seizure" ] ], "xref": [ "MSH:D004828", "SNOMEDCT_US:117891000119100", "SNOMEDCT_US:79348005", "UMLS:C0234974" ], "is_a": [ "HP:0007359" ], "is_obsolete": "", "replace_id": "" }, "HP:0002350": { "name": [ "cerebellar cyst", "cerebellar cyst" ], "alt_id": [], "def": "", "synonym": [ [ "cerebellar cysts", "cerebellar cyst" ] ], "xref": [ "UMLS:C1847762" ], "is_a": [ "HP:0002438", "HP:0010576" ], "is_obsolete": "", "replace_id": "" }, "HP:0002352": { "name": [ "leukoencephalopathy", "leukoencephalopathy" ], "alt_id": [ "HP:0006838", "HP:0007073" ], "def": "This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.", "synonym": [], "xref": [ "MSH:D056784", "SNOMEDCT_US:22811006", "UMLS:C0270612" ], "is_a": [ "HP:0002060" ], "is_obsolete": "", "replace_id": "" }, "HP:0002353": { "name": [ "eeg abnormality", "eeg abnormality" ], "alt_id": [ "HP:0001346", "HP:0002429", "HP:0006841" ], "def": "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.", "synonym": [ [ "abnormal eeg", "abnormal eeg" ], [ "abnormal electroencephalogram", "abnormal electroencephalogram" ], [ "eeg abnormalities", "eeg abnormality" ], [ "electroencephalogram abnormal", "electroencephalogram abnormal" ], [ "electroencephalogram abnormalities", "electroencephalogram abnormality" ] ], "xref": [ "SNOMEDCT_US:274521009", "UMLS:C0151611" ], "is_a": [ "HP:0030178" ], "is_obsolete": "", "replace_id": "" }, "HP:0002354": { "name": [ "memory impairment", "memory impairment" ], "alt_id": [ "HP:0000747", "HP:0002081" ], "def": "An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.", "synonym": [ [ "forgetfulness", "forgetfulness" ], [ "memory impairment", "memory impairment" ], [ "memory loss", "memory loss" ], [ "memory problems", "memory problem" ], [ "poor memory", "poor memory" ] ], "xref": [ "MSH:D008569", "SNOMEDCT_US:386807006", "SNOMEDCT_US:55533009", "UMLS:C0233794", "UMLS:C0542476", "UMLS:C0751295" ], "is_a": [ "HP:0100543" ], "is_obsolete": "", "replace_id": "" }, "HP:0002355": { "name": [ "difficulty walking", "difficulty walk" ], "alt_id": [ "HP:0007101", "HP:0009030" ], "def": "Reduced ability to walk (ambulate).", "synonym": [ [ "difficulty in walking", "difficulty in walk" ], [ "difficulty walking", "difficulty walk" ], [ "walking disability", "walk disability" ] ], "xref": [ "MSH:D051346", "SNOMEDCT_US:228158008", "UMLS:C0311394" ], "is_a": [ "HP:0001288", "HP:0004302" ], "is_obsolete": "", "replace_id": "" }, "HP:0002356": { "name": [ "writer 's cramp", "writer 's cramp" ], "alt_id": [], "def": "A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.", "synonym": [ [ "writer 's cramp", "writer 's cramp" ] ], "xref": [ "MSH:D020821", "SNOMEDCT_US:52008007", "UMLS:C0154676" ], "is_a": [ "HP:0004373" ], "is_obsolete": "", "replace_id": "" }, "HP:0002357": { "name": [ "dysphasia", "dysphasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D001037", "SNOMEDCT_US:20301004", "UMLS:C0973461" ], "is_a": [ "HP:0002381" ], "is_obsolete": "", "replace_id": "" }, "HP:0002359": { "name": [ "frequent falls", "frequent fall" ], "alt_id": [], "def": "", "synonym": [ [ "frequent falls", "frequent fall" ] ], "xref": [ "UMLS:C0850703" ], "is_a": [ "HP:0002311", "HP:0004302" ], "is_obsolete": "", "replace_id": "" }, "HP:0002360": { "name": [ "sleep disturbance", "sleep disturbance" ], "alt_id": [], "def": "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.", "synonym": [ [ "difficulty sleeping", "difficulty sleep" ], [ "sleep disturbances", "sleep disturbance" ], [ "sleep dysfunction", "sleep dysfunction" ], [ "trouble sleeping", "trouble sleep" ] ], "xref": [ "SNOMEDCT_US:53888004", "UMLS:C0037317" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0002361": { "name": [ "psychomotor deterioration", "psychomotor deterioration" ], "alt_id": [], "def": "Loss of previously present mental and motor abilities.", "synonym": [ [ "psychomotor degeneration", "psychomotor degeneration" ] ], "xref": [ "UMLS:C1836842" ], "is_a": [ "HP:0001268" ], "is_obsolete": "", "replace_id": "" }, "HP:0002362": { "name": [ "shuffling gait", "shuffle gait" ], "alt_id": [], "def": "A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.", "synonym": [ [ "shuffled walk", "shuffle walk" ] ], "xref": [ "MSH:D020233", "SNOMEDCT_US:43005009", "UMLS:C0231688" ], "is_a": [ "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0002363": { "name": [ "abnormal brainstem morphology", "abnormal brainstem morphology" ], "alt_id": [], "def": "An anomaly of the brainstem.", "synonym": [ [ "abnormal shape of brainstem", "abnormal shape of brainstem" ], [ "abnormality of brainstem morphology", "abnormality of brainstem morphology" ], [ "abnormality of the brainstem", "abnormality of the brainstem" ] ], "xref": [ "UMLS:C1850601" ], "is_a": [ "HP:0012443" ], "is_obsolete": "", "replace_id": "" }, "HP:0002365": { "name": [ "hypoplasia of the brainstem", "hypoplasia of the brainstem" ], "alt_id": [], "def": "Underdevelopment of the brainstem.", "synonym": [ [ "brainstem hypoplasia", "brainstem hypoplasia" ], [ "hypoplastic brain stem", "hypoplastic brain stem" ], [ "hypoplastic brainstem", "hypoplastic brainstem" ], [ "small brainstem", "small brainstem" ], [ "underdeveloped brainstem", "underdeveloped brainstem" ] ], "xref": [ "UMLS:C1842688" ], "is_a": [ "HP:0007362" ], "is_obsolete": "", "replace_id": "" }, "HP:0002366": { "name": [ "abnormal lower motor neuron morphology", "abnormal low motor neuron morphology" ], "alt_id": [ "HP:0007276" ], "def": "Any structural anomaly of the lower motor neuron.", "synonym": [ [ "lower motor neuron disease", "low motor neuron disease" ], [ "lower motor neuron manifestations", "low motor neuron manifestation" ], [ "lower motor neuron signs", "low motor neuron sign" ] ], "xref": [ "UMLS:C1865412" ], "is_a": [ "HP:0000759", "HP:0002450" ], "is_obsolete": "", "replace_id": "" }, "HP:0002367": { "name": [ "visual hallucinations", "visual hallucination" ], "alt_id": [], "def": "Visual perceptions that are not elicited by a corresponding stimulus from the outside world.", "synonym": [ [ "visual hallucinations", "visual hallucination" ] ], "xref": [ "MSH:D006212", "SNOMEDCT_US:64269007", "UMLS:C0233763" ], "is_a": [ "HP:0000738" ], "is_obsolete": "", "replace_id": "" }, "HP:0002370": { "name": [ "poor coordination", "poor coordination" ], "alt_id": [], "def": "", "synonym": [ [ "poor coordination", "poor coordination" ] ], "xref": [ "UMLS:C0563243" ], "is_a": [ "HP:0002311" ], "is_obsolete": "", "replace_id": "" }, "HP:0002371": { "name": [ "loss of speech", "loss of speech" ], "alt_id": [], "def": "", "synonym": [ [ "loss of speech", "loss of speech" ] ], "xref": [ "UMLS:C0542223" ], "is_a": [ "HP:0002167" ], "is_obsolete": "", "replace_id": "" }, "HP:0002372": { "name": [ "normal interictal eeg", "normal interictal eeg" ], "alt_id": [], "def": "Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.", "synonym": [], "xref": [ "UMLS:C1843146" ], "is_a": [ "HP:0025373" ], "is_obsolete": "", "replace_id": "" }, "HP:0002373": { "name": [ "febrile seizure ( within the age range of 3 months to 6 years )", "febrile seizure ( within the age range of 3 month to 6 year )" ], "alt_id": [ "HP:0002175", "HP:0007102" ], "def": "A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.", "synonym": [ [ "febrile convulsion", "febrile convulsion" ], [ "febrile seizures", "febrile seizure" ], [ "fever induced seizures", "fever induced seizure" ], [ "seizures , febrile , in early childhood", "seizure , febrile , in early childhood" ], [ "seizures , generalized , associated with fever", "seizure , generalize , associate with fever" ] ], "xref": [ "MSH:D003294", "SNOMEDCT_US:41497008", "UMLS:C0009952" ], "is_a": [ "HP:0032894" ], "is_obsolete": "", "replace_id": "" }, "HP:0002374": { "name": [ "diminished movement", "diminish movement" ], "alt_id": [], "def": "", "synonym": [ [ "diminished movement", "diminish movement" ] ], "xref": [ "UMLS:C4025710" ], "is_a": [ "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0002375": { "name": [ "hypokinesia", "hypokinesia" ], "alt_id": [ "HP:0002603", "HP:0006795" ], "def": "Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.", "synonym": [ [ "decreased muscle movement", "decreased muscle movement" ], [ "decreased spontaneous movement", "decrease spontaneous movement" ], [ "decreased spontaneous movements", "decrease spontaneous movement" ] ], "xref": [ "MSH:D018476", "SNOMEDCT_US:255385008", "SNOMEDCT_US:43994002", "UMLS:C0086439" ], "is_a": [ "HP:0002374" ], "is_obsolete": "", "replace_id": "" }, "HP:0002376": { "name": [ "developmental regression", "developmental regression" ], "alt_id": [ "HP:0002471", "HP:0002489", "HP:0006797", "HP:0006828", "HP:0006854", "HP:0007037", "HP:0007242", "HP:0007247" ], "def": "Loss of developmental skills, as manifested by loss of developmental milestones.", "synonym": [ [ "loss of developmental milestones", "loss of developmental milestone" ], [ "mental deterioration in childhood", "mental deterioration in childhood" ], [ "neurodevelopmental regression", "neurodevelopmental regression" ], [ "psychomotor regression", "psychomotor regression" ], [ "psychomotor regression beginning in infancy", "psychomotor regression begin in infancy" ], [ "psychomotor regression in infants", "psychomotor regression in infant" ], [ "psychomotor regression , progressive", "psychomotor regression , progressive" ] ], "xref": [ "SNOMEDCT_US:609225004", "UMLS:C1836550", "UMLS:C1836830", "UMLS:C1850493", "UMLS:C1855009", "UMLS:C1855019", "UMLS:C1855996", "UMLS:C1857121", "UMLS:C1859678" ], "is_a": [ "HP:0012759" ], "is_obsolete": "", "replace_id": "" }, "HP:0002377": { "name": [ "obsolete paraganglioma - related cranial nerve palsy", "obsolete paraganglioma - relate cranial nerve palsy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0006824" }, "HP:0002378": { "name": [ "hand tremor", "hand tremor" ], "alt_id": [], "def": "An unintentional, oscillating to-and-fro muscle movement affecting the hand.", "synonym": [ [ "hand tremor", "hand tremor" ], [ "tremor of hand", "tremor of hand" ], [ "tremor of hands", "tremor of hand" ], [ "tremors in hands", "tremor in hand" ] ], "xref": [ "UMLS:C0239842" ], "is_a": [ "HP:0030188" ], "is_obsolete": "", "replace_id": "" }, "HP:0002380": { "name": [ "fasciculations", "fasciculation" ], "alt_id": [ "HP:0002468", "HP:0007092" ], "def": "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.", "synonym": [ [ "fasciculation", "fasciculation" ], [ "muscle fasciculation", "muscle fasciculation" ], [ "muscle twitch", "muscle twitch" ] ], "xref": [ "MSH:D005207", "SNOMEDCT_US:82470000", "UMLS:C0015644" ], "is_a": [ "HP:0004305" ], "is_obsolete": "", "replace_id": "" }, "HP:0002381": { "name": [ "aphasia", "aphasia" ], "alt_id": [], "def": "An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.", "synonym": [ [ "difficulty finding words", "difficulty find word" ], [ "losing words", "losing word" ], [ "loss of words", "loss of word" ] ], "xref": [ "MSH:D001037", "SNOMEDCT_US:87486003", "UMLS:C0003537" ], "is_a": [ "HP:0002167" ], "is_obsolete": "", "replace_id": "" }, "HP:0002383": { "name": [ "infectious encephalitis", "infectious encephalitis" ], "alt_id": [], "def": "A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.", "synonym": [ [ "brain inflammation", "brain inflammation" ] ], "xref": [ "MSH:D004660", "SNOMEDCT_US:45170000", "UMLS:C0014038" ], "is_a": [ "HP:0011450" ], "is_obsolete": "", "replace_id": "" }, "HP:0002384": { "name": [ "focal impaired awareness seizure", "focal impair awareness seizure" ], "alt_id": [ "HP:0002278" ], "def": "Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.", "synonym": [ [ "complex focal seizures", "complex focal seizure" ], [ "complex partial seizure", "complex partial seizure" ], [ "complex partial seizures", "complex partial seizure" ], [ "dyscognitive seizures", "dyscognitive seizure" ], [ "focal dyscognitive seizure", "focal dyscognitive seizure" ], [ "focal impaired awareness seizures", "focal impair awareness seizure" ], [ "focal seizure with impairment of awareness", "focal seizure with impairment of awareness" ], [ "focal seizure with loss of awareness", "focal seizure with loss of awareness" ], [ "focal seizures with impairment of consciousness or awareness", "focal seizure with impairment of consciousness or awareness" ], [ "localised dyscognitive seizure", "localise dyscognitive seizure" ], [ "localised seizure with impaired awareness", "localised seizure with impaired awareness" ], [ "localised seizure with loss of awareness", "localised seizure with loss of awareness" ], [ "localized dyscognitive seizure", "localize dyscognitive seizure" ], [ "localized seizure with impaired awareness", "localized seizure with impaired awareness" ], [ "localized seizure with loss of awareness", "localized seizure with loss of awareness" ], [ "partial dyscognitive seizure", "partial dyscognitive seizure" ], [ "partial seizure with impairment of awareness", "partial seizure with impairment of awareness" ], [ "partial seizure with loss of awareness", "partial seizure with loss of awareness" ] ], "xref": [ "SNOMEDCT_US:4103001", "UMLS:C0149958", "UMLS:C0270834" ], "is_a": [ "HP:0007359", "HP:0011146" ], "is_obsolete": "", "replace_id": "" }, "HP:0002385": { "name": [ "paraparesis", "paraparesis" ], "alt_id": [], "def": "Weakness or partial paralysis in the lower limbs.", "synonym": [ [ "partial paralysis of legs", "partial paralysis of leg" ] ], "xref": [ "MSH:D020335", "SNOMEDCT_US:1845001", "UMLS:C0221166" ], "is_a": [ "HP:0010551" ], "is_obsolete": "", "replace_id": "" }, "HP:0002389": { "name": [ "cavum septum pellucidum", "cavum septum pellucidum" ], "alt_id": [ "HP:0006884", "HP:0007091", "HP:0007336" ], "def": "If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.", "synonym": [ [ "large cavum septi pellucidi", "large cavum septi pellucidi" ], [ "persistent cavum septum pellucidum", "persistent cavum septum pellucidum" ], [ "widened cavum septum pellucidum", "widen cavum septum pellucidum" ] ], "xref": [ "UMLS:C1840380" ], "is_a": [ "HP:0007375" ], "is_obsolete": "", "replace_id": "" }, "HP:0002390": { "name": [ "spinal arteriovenous malformation", "spinal arteriovenous malformation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:261482004", "UMLS:C0348023" ], "is_a": [ "HP:0002143", "HP:0100026" ], "is_obsolete": "", "replace_id": "" }, "HP:0002392": { "name": [ "eeg with polyspike wave complexes", "eeg with polyspike wave complex" ], "alt_id": [], "def": "The presence of complexes of repetitive spikes and waves in EEG.", "synonym": [ [ "eeg : spike and multispike waves , 3 - 4 hz", "eeg : spike and multispike wave , 3 - 4 hz" ] ], "xref": [ "UMLS:C4021757" ], "is_a": [ "HP:0010850" ], "is_obsolete": "", "replace_id": "" }, "HP:0002395": { "name": [ "lower limb hyperreflexia", "low limb hyperreflexia" ], "alt_id": [ "HP:0007245", "HP:0007288" ], "def": "", "synonym": [ [ "brisk lower extremity reflexes", "brisk low extremity reflex" ], [ "hyperreflexia in lower limbs", "hyperreflexia in low limb" ], [ "hyperreflexia in the lower limbs", "hyperreflexia in the low limb" ], [ "increased deep tendon reflexes in the lower limbs", "increase deep tendon reflex in the low limb" ], [ "leg hyperreflexia", "leg hyperreflexia" ], [ "overactive lower leg reflex", "overactive low leg reflex" ] ], "xref": [ "UMLS:C1836696" ], "is_a": [ "HP:0001347" ], "is_obsolete": "", "replace_id": "" }, "HP:0002396": { "name": [ "cogwheel rigidity", "cogwheel rigidity" ], "alt_id": [], "def": "A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).", "synonym": [], "xref": [ "MSH:D009127", "SNOMEDCT_US:55630000", "UMLS:C0151564" ], "is_a": [ "HP:0002063" ], "is_obsolete": "", "replace_id": "" }, "HP:0002398": { "name": [ "degeneration of anterior horn cells", "degeneration of anterior horn cell" ], "alt_id": [ "HP:0007136", "HP:0008312" ], "def": "", "synonym": [ [ "anterior horn cell loss", "anterior horn cell loss" ], [ "degeneration of alpha - motor neurons in anterior horn cells of the spinal cord", "degeneration of alpha - motor neuron in anterior horn cell of the spinal cord" ], [ "degeneration of spinal cord anterior horn cells", "degeneration of spinal cord anterior horn cell" ], [ "loss of spinal cord anterior horn cells", "loss of spinal cord anterior horn cell" ], [ "progressive loss of anterior horn cells", "progressive loss of anterior horn cell" ], [ "spinal cord anterior horn cell degeneration", "spinal cord anterior horn cell degeneration" ] ], "xref": [ "UMLS:C1843505" ], "is_a": [ "HP:0006802", "HP:0007373" ], "is_obsolete": "", "replace_id": "" }, "HP:0002401": { "name": [ "stroke - like episode", "stroke - like episode" ], "alt_id": [], "def": "No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.", "synonym": [ [ "stroke - like episodes", "stroke - like episode" ], [ "strokelike episodes", "strokelike episode" ] ], "xref": [ "UMLS:C1857287" ], "is_a": [ "HP:0001297" ], "is_obsolete": "", "replace_id": "" }, "HP:0002403": { "name": [ "positive romberg sign", "positive romberg sign" ], "alt_id": [], "def": "The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.", "synonym": [], "xref": [ "SNOMEDCT_US:298310004", "UMLS:C0240914" ], "is_a": [ "HP:0010831" ], "is_obsolete": "", "replace_id": "" }, "HP:0002404": { "name": [ "thickened superior cerebellar peduncle", "thicken superior cerebellar peduncle" ], "alt_id": [], "def": "Increased width of the superior cerebellar peduncle.", "synonym": [ [ "thick cerebellar peduncles", "thick cerebellar peduncle" ] ], "xref": [ "UMLS:C4021756" ], "is_a": [ "HP:0011932" ], "is_obsolete": "", "replace_id": "" }, "HP:0002406": { "name": [ "limb dysmetria", "limb dysmetria" ], "alt_id": [], "def": "A type of dysmetria involving the limbs.", "synonym": [ [ "uncoordinated limb movement", "uncoordinated limb movement" ] ], "xref": [ "UMLS:C1854489", "UMLS:C4280577" ], "is_a": [ "HP:0001310" ], "is_obsolete": "", "replace_id": "" }, "HP:0002408": { "name": [ "cerebral arteriovenous malformation", "cerebral arteriovenous malformation" ], "alt_id": [], "def": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.", "synonym": [ [ "cerebral av malformation", "cerebral av malformation" ] ], "xref": [ "Fyler:2201", "MSH:D002538", "SNOMEDCT_US:234142008", "UMLS:C0917804" ], "is_a": [ "HP:0100026", "HP:0100659" ], "is_obsolete": "", "replace_id": "" }, "HP:0002410": { "name": [ "aqueductal stenosis", "aqueductal stenosis" ], "alt_id": [], "def": "Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.", "synonym": [ [ "aqueduct of sylvius stenosis", "aqueduct of sylvius stenosis" ], [ "aqueduct stenosis", "aqueduct stenosis" ], [ "narrowing of aqueduct of sylvius", "narrowing of aqueduct of sylvius" ] ], "xref": [ "MSH:D006849", "UMLS:C2936786" ], "is_a": [ "HP:0002118" ], "is_obsolete": "", "replace_id": "" }, "HP:0002411": { "name": [ "myokymia", "myokymia" ], "alt_id": [], "def": "Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.", "synonym": [], "xref": [ "MSH:D020385", "SNOMEDCT_US:27678003", "UMLS:C0684219" ], "is_a": [ "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0002414": { "name": [ "spina bifida", "spina bifida" ], "alt_id": [], "def": "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.", "synonym": [ [ "split spine", "split spine" ] ], "xref": [ "Fyler:4157", "MSH:D016135", "SNOMEDCT_US:67531005", "UMLS:C0080178" ], "is_a": [ "HP:0010301" ], "is_obsolete": "", "replace_id": "" }, "HP:0002415": { "name": [ "leukodystrophy", "leukodystrophy" ], "alt_id": [], "def": "Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.", "synonym": [ [ "degeneration of white matter of brain", "degeneration of white matter of brain" ] ], "xref": [ "SNOMEDCT_US:192781003", "UMLS:C0023520" ], "is_a": [ "HP:0011400" ], "is_obsolete": "", "replace_id": "" }, "HP:0002416": { "name": [ "subependymal cysts", "subependymal cyst" ], "alt_id": [], "def": "Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.", "synonym": [], "xref": [ "UMLS:C1833431" ], "is_a": [ "HP:0002118", "HP:0010576" ], "is_obsolete": "", "replace_id": "" }, "HP:0002418": { "name": [ "abnormal midbrain morphology", "abnormal midbrain morphology" ], "alt_id": [], "def": "An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.", "synonym": [ [ "abnormal shape of midbrain", "abnormal shape of midbrain" ], [ "abnormality of midbrain morphology", "abnormality of midbrain morphology" ], [ "abnormality of the mesencephalon", "abnormality of the mesencephalon" ], [ "abnormality of the midbrain", "abnormality of the midbrain" ] ], "xref": [ "UMLS:C4021755" ], "is_a": [ "HP:0012443" ], "is_obsolete": "", "replace_id": "" }, "HP:0002419": { "name": [ "molar tooth sign on mri", "molar tooth sign on mri" ], "alt_id": [], "def": "An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.", "synonym": [ [ "'molar tooth sign ' on brain imaging '", "'molar tooth sign ' on brain imaging '" ], [ "'molar tooth ' sign on imaging", "'molar tooth ' sign on image" ], [ "molar tooth sign", "molar tooth sign" ] ], "xref": [ "UMLS:C1865060" ], "is_a": [ "HP:0002418" ], "is_obsolete": "", "replace_id": "" }, "HP:0002421": { "name": [ "poor head control", "poor head control" ], "alt_id": [], "def": "Difficulty to maintain correct position of the head while standing or sitting.", "synonym": [ [ "poor head control", "poor head control" ] ], "xref": [ "UMLS:C1836038" ], "is_a": [ "HP:0001324" ], "is_obsolete": "", "replace_id": "" }, "HP:0002423": { "name": [ "long - tract signs", "long - tract sign" ], "alt_id": [], "def": "", "synonym": [ [ "long tract signs", "long tract sign" ] ], "xref": [ "UMLS:C1865903" ], "is_a": [ "HP:0002143" ], "is_obsolete": "", "replace_id": "" }, "HP:0002425": { "name": [ "anarthria", "anarthria" ], "alt_id": [], "def": "A defect in the motor ability that enables speech.", "synonym": [ [ "loss of articulate speech", "loss of articulate speech" ] ], "xref": [ "SNOMEDCT_US:48257004", "UMLS:C0234517" ], "is_a": [ "HP:0002167" ], "is_obsolete": "", "replace_id": "" }, "HP:0002427": { "name": [ "expressive aphasia", "expressive aphasia" ], "alt_id": [], "def": "Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.", "synonym": [ [ "broca 's aphasia", "broca 's aphasia" ], [ "loss of expressive speech", "loss of expressive speech" ], [ "motor aphasia", "motor aphasia" ], [ "non - fluent aphasia", "non - fluent aphasia" ] ], "xref": [ "MSH:D001039", "SNOMEDCT_US:229654003", "SNOMEDCT_US:229665008", "SNOMEDCT_US:328681008", "UMLS:C0003550", "UMLS:C0917814" ], "is_a": [ "HP:0002381" ], "is_obsolete": "", "replace_id": "" }, "HP:0002435": { "name": [ "meningocele", "meningocele" ], "alt_id": [], "def": "Protrusion of the meninges through a defect of the vertebral column.", "synonym": [], "xref": [ "MSH:D008588", "SNOMEDCT_US:171131006", "UMLS:C0025299" ], "is_a": [ "HP:0002414", "HP:0010651" ], "is_obsolete": "", "replace_id": "" }, "HP:0002436": { "name": [ "occipital meningocele", "occipital meningocele" ], "alt_id": [], "def": "A herniation of meninges through a congenital bone defect in the skull in the occipital region.", "synonym": [], "xref": [ "SNOMEDCT_US:445468002", "UMLS:C1848652" ], "is_a": [ "HP:0002435" ], "is_obsolete": "", "replace_id": "" }, "HP:0002438": { "name": [ "cerebellar malformation", "cerebellar malformation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025708" ], "is_a": [ "HP:0001317" ], "is_obsolete": "", "replace_id": "" }, "HP:0002439": { "name": [ "frontolimbic dementia", "frontolimbic dementia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1836151" ], "is_a": [ "HP:0000726" ], "is_obsolete": "", "replace_id": "" }, "HP:0002442": { "name": [ "dyscalculia", "dyscalculia" ], "alt_id": [], "def": "A specific learning disability involving mathematics and arithmetic.", "synonym": [ [ "difficulty making arithmetical calculations", "difficulty make arithmetical calculation" ] ], "xref": [ "SNOMEDCT_US:47916000", "UMLS:C1411876", "UMLS:C4280576" ], "is_a": [ "HP:0001328" ], "is_obsolete": "", "replace_id": "" }, "HP:0002444": { "name": [ "hypothalamic hamartoma", "hypothalamic hamartoma" ], "alt_id": [], "def": "The presence of a hamartoma of the hypothalamus.", "synonym": [], "xref": [ "MSH:C537158", "SNOMEDCT_US:237714006", "UMLS:C0342418" ], "is_a": [ "HP:0009731", "HP:0012286" ], "is_obsolete": "", "replace_id": "" }, "HP:0002445": { "name": [ "tetraplegia", "tetraplegia" ], "alt_id": [ "HP:0010552" ], "def": "Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.", "synonym": [ [ "paralysis of all four limbs", "paralysis of all four limb" ], [ "quadriplegia", "quadriplegia" ] ], "xref": [ "MSH:D011782", "SNOMEDCT_US:11538006", "UMLS:C0034372" ], "is_a": [ "HP:0030182" ], "is_obsolete": "", "replace_id": "" }, "HP:0002446": { "name": [ "astrocytosis", "astrocytosis" ], "alt_id": [], "def": "Proliferation of astrocytes in the area of a lesion of the central nervous system.", "synonym": [ [ "increase in astrocyte number", "increase in astrocyte number" ] ], "xref": [ "MSH:D005911", "SNOMEDCT_US:81415000", "UMLS:C3887640" ], "is_a": [ "HP:0100707" ], "is_obsolete": "", "replace_id": "" }, "HP:0002448": { "name": [ "progressive encephalopathy", "progressive encephalopathy" ], "alt_id": [], "def": "", "synonym": [ [ "progressive brain disease", "progressive brain disease" ] ], "xref": [ "UMLS:C1838578", "UMLS:C4280575" ], "is_a": [ "HP:0001298" ], "is_obsolete": "", "replace_id": "" }, "HP:0002450": { "name": [ "abnormal motor neuron morphology", "abnormal motor neuron morphology" ], "alt_id": [], "def": "Any structural anomaly that affects the motor neuron.", "synonym": [ [ "abnormal shape of motor neuron", "abnormal shape of motor neuron" ] ], "xref": [ "UMLS:C4025707" ], "is_a": [ "HP:0012757" ], "is_obsolete": "", "replace_id": "" }, "HP:0002451": { "name": [ "limb dystonia", "limb dystonia" ], "alt_id": [], "def": "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.", "synonym": [], "xref": [ "MSH:D004421", "UMLS:C0751093" ], "is_a": [ "HP:0001332" ], "is_obsolete": "", "replace_id": "" }, "HP:0002453": { "name": [ "abnormal globus pallidus morphology", "abnormal globus pallidus morphology" ], "alt_id": [ "HP:0007040" ], "def": "An abnormality of the globus pallidus.", "synonym": [], "xref": [ "UMLS:C4025706" ], "is_a": [ "HP:0002134" ], "is_obsolete": "", "replace_id": "" }, "HP:0002454": { "name": [ "eye of the tiger anomaly of globus pallidus", "eye of the tiger anomaly of globus pallidus" ], "alt_id": [], "def": "The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance.", "synonym": [], "xref": [ "UMLS:C4025705" ], "is_a": [ "HP:0002453" ], "is_obsolete": "", "replace_id": "" }, "HP:0002457": { "name": [ "abnormal head movements", "abnormal head movement" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal head movements", "abnormal head movement" ] ], "xref": [ "SNOMEDCT_US:271799000", "UMLS:C0476217" ], "is_a": [ "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0002459": { "name": [ "obsolete dysautonomia", "obsolete dysautonomia" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0012332" }, "HP:0002460": { "name": [ "distal muscle weakness", "distal muscle weakness" ], "alt_id": [ "HP:0002598", "HP:0002935", "HP:0003497", "HP:0006940", "HP:0009008" ], "def": "Reduced strength of the musculature of the distal extremities.", "synonym": [ [ "distal limb muscle weakness", "distal limb muscle weakness" ], [ "distal limb muscle weakness due to peripheral neuropathy", "distal limb muscle weakness due to peripheral neuropathy" ], [ "distal limb weakness", "distal limb weakness" ], [ "distal muscular weakness", "distal muscular weakness" ], [ "distal paresis", "distal paresis" ], [ "muscle weakness , distal", "muscle weakness , distal" ], [ "muscle weakness , distal limbs , due to neuronopathy", "muscle weakness , distal limb , due to neuronopathy" ], [ "weakness of distal muscles", "weakness of distal muscle" ], [ "weakness of outermost muscles", "weakness of outermost muscle" ] ], "xref": [ "SNOMEDCT_US:249942005", "UMLS:C0427065", "UMLS:C1864696" ], "is_a": [ "HP:0001324" ], "is_obsolete": "", "replace_id": "" }, "HP:0002461": { "name": [ "dense calcifications in the cerebellar dentate nucleus", "dense calcification in the cerebellar dentate nucleus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1859273" ], "is_a": [ "HP:0007352", "HP:0100321" ], "is_obsolete": "", "replace_id": "" }, "HP:0002463": { "name": [ "language impairment", "language impairment" ], "alt_id": [], "def": "Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.", "synonym": [ [ "language disorder", "language disorder" ], [ "language impairment", "language impairment" ] ], "xref": [ "MSH:D007806", "SNOMEDCT_US:62305002", "UMLS:C0023015" ], "is_a": [ "HP:0011446" ], "is_obsolete": "", "replace_id": "" }, "HP:0002464": { "name": [ "spastic dysarthria", "spastic dysarthria" ], "alt_id": [], "def": "A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.", "synonym": [ [ "rigid dysarthria", "rigid dysarthria" ] ], "xref": [ "MSH:D004401", "SNOMEDCT_US:229684006", "UMLS:C0454596" ], "is_a": [ "HP:0001257", "HP:0001260" ], "is_obsolete": "", "replace_id": "" }, "HP:0002465": { "name": [ "poor speech", "poor speech" ], "alt_id": [], "def": "", "synonym": [ [ "difficulty speaking", "difficulty speaking" ], [ "poor speech", "poor speech" ], [ "problems speaking", "problem speak" ] ], "xref": [ "UMLS:C1848207", "UMLS:C4280574" ], "is_a": [ "HP:0002167" ], "is_obsolete": "", "replace_id": "" }, "HP:0002470": { "name": [ "nonprogressive cerebellar ataxia", "nonprogressive cerebellar ataxia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1845029" ], "is_a": [ "HP:0001251" ], "is_obsolete": "", "replace_id": "" }, "HP:0002472": { "name": [ "small cerebral cortex", "small cerebral cortex" ], "alt_id": [ "HP:0006791", "HP:0007151" ], "def": "Reduced size of the cerebral cortex.", "synonym": [ [ "decreased volume of cerebral cortex", "decreased volume of cerebral cortex" ] ], "xref": [ "UMLS:C1837503" ], "is_a": [ "HP:0002538" ], "is_obsolete": "", "replace_id": "" }, "HP:0002474": { "name": [ "expressive language delay", "expressive language delay" ], "alt_id": [ "HP:0007192" ], "def": "A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.", "synonym": [ [ "communication delay", "communication delay" ], [ "deficit in expressive language", "deficit in expressive language" ] ], "xref": [ "SNOMEDCT_US:229734008", "UMLS:C0454641", "UMLS:C1847610", "UMLS:C4280573" ], "is_a": [ "HP:0000750" ], "is_obsolete": "", "replace_id": "" }, "HP:0002475": { "name": [ "myelomeningocele", "myelomeningocele" ], "alt_id": [], "def": "Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.", "synonym": [ [ "meningomyelocele", "meningomyelocele" ], [ "spina bifida cystica", "spina bifida cystica" ] ], "xref": [ "Fyler:4309", "MSH:D008591", "SNOMEDCT_US:203994003", "SNOMEDCT_US:414667000", "UMLS:C0025312" ], "is_a": [ "HP:0002435" ], "is_obsolete": "", "replace_id": "" }, "HP:0002476": { "name": [ "primitive reflex", "primitive reflex" ], "alt_id": [], "def": "The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.", "synonym": [ [ "archaic reflex", "archaic reflex" ], [ "primitive reflexes", "primitive reflex" ] ], "xref": [ "UMLS:C1838319" ], "is_a": [ "HP:0031826" ], "is_obsolete": "", "replace_id": "" }, "HP:0002478": { "name": [ "progressive spastic quadriplegia", "progressive spastic quadriplegia" ], "alt_id": [], "def": "", "synonym": [ [ "progressive spastic quadriparesis", "progressive spastic quadriparesis" ] ], "xref": [ "UMLS:C1859736" ], "is_a": [ "HP:0002191" ], "is_obsolete": "", "replace_id": "" }, "HP:0002480": { "name": [ "hepatic encephalopathy", "hepatic encephalopathy" ], "alt_id": [], "def": "Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.", "synonym": [], "xref": [ "MSH:D006501", "SNOMEDCT_US:13920009", "SNOMEDCT_US:449902003", "UMLS:C0019151" ], "is_a": [ "HP:0001298" ], "is_obsolete": "", "replace_id": "" }, "HP:0002483": { "name": [ "bulbar signs", "bulbar sign" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1856507" ], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0002486": { "name": [ "myotonia", "myotonia" ], "alt_id": [ "HP:0003632", "HP:0003754", "HP:0003792" ], "def": "An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.", "synonym": [ [ "delayed relaxation of muscle fibers after contraction", "delay relaxation of muscle fiber after contraction" ], [ "delayed relaxation of muscle fibres after contraction", "delay relaxation of muscle fibre after contraction" ] ], "xref": [ "MSH:D009222", "SNOMEDCT_US:3434004", "UMLS:C0027125" ], "is_a": [ "HP:0011804" ], "is_obsolete": "", "replace_id": "" }, "HP:0002487": { "name": [ "hyperkinetic movements", "hyperkinetic movement" ], "alt_id": [], "def": "Motor hyperactivity with excessive movement of muscles of the body as a whole.", "synonym": [ [ "hyperkinesia", "hyperkinesia" ], [ "hyperkinesis", "hyperkinesis" ], [ "muscle spasms", "muscle spasm" ] ], "xref": [ "MSH:D006948", "MSH:D013035", "SNOMEDCT_US:44548000", "SNOMEDCT_US:45352006", "UMLS:C0037763", "UMLS:C0424295" ], "is_a": [ "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0002488": { "name": [ "acute leukemia", "acute leukemia" ], "alt_id": [], "def": "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).", "synonym": [ [ "acute blood cancer", "acute blood cancer" ], [ "acute leukaemia", "acute leukaemia" ], [ "acute leukemias", "acute leukemia" ] ], "xref": [ "SNOMEDCT_US:24072005", "SNOMEDCT_US:91855006", "UMLS:C0085669", "UMLS:C4280572" ], "is_a": [ "HP:0001909" ], "is_obsolete": "", "replace_id": "" }, "HP:0002490": { "name": [ "increased csf lactate", "increase csf lactate" ], "alt_id": [], "def": "Increased concentration of lactate in the cerebrospinal fluid.", "synonym": [ [ "hyperlactatorachia", "hyperlactatorachia" ], [ "increased cerebrospinal fluid lactate", "increase cerebrospinal fluid lactate" ], [ "increased csf lactic acid", "increase csf lactic acid" ] ], "xref": [ "UMLS:C1167918" ], "is_a": [ "HP:0030085" ], "is_obsolete": "", "replace_id": "" }, "HP:0002491": { "name": [ "spasticity of facial muscles", "spasticity of facial muscle" ], "alt_id": [ "HP:0000313" ], "def": "Spasticity of one or more muscles innervated by the facial nerve.", "synonym": [ [ "increased stiffness of facial muscles", "increased stiffness of facial muscle" ], [ "increased tone of facial muscles", "increase tone of facial muscle" ], [ "spasticity of the facial muscles", "spasticity of the facial muscle" ] ], "xref": [ "UMLS:C1853404", "UMLS:C4280570", "UMLS:C4280571" ], "is_a": [ "HP:0000301", "HP:0001257" ], "is_obsolete": "", "replace_id": "" }, "HP:0002492": { "name": [ "morphological abnormality of the corticospinal tract", "morphological abnormality of the corticospinal tract" ], "alt_id": [ "HP:0006912" ], "def": "Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.", "synonym": [ [ "abnormality of the corticospinal tract", "abnormality of the corticospinal tract" ], [ "involvement of the corticospinal pathways", "involvement of the corticospinal pathway" ] ], "xref": [ "UMLS:C4020852", "UMLS:C4025704" ], "is_a": [ "HP:0002062" ], "is_obsolete": "", "replace_id": "" }, "HP:0002493": { "name": [ "upper motor neuron dysfunction", "upper motor neuron dysfunction" ], "alt_id": [], "def": "A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.", "synonym": [ [ "corticospinal tract dysfunction", "corticospinal tract dysfunction" ], [ "pyramidal tract dysfunction", "pyramidal tract dysfunction" ] ], "xref": [ "UMLS:C1504405", "UMLS:C1839042" ], "is_a": [ "HP:0011442" ], "is_obsolete": "", "replace_id": "" }, "HP:0002494": { "name": [ "abnormal rapid eye movement sleep", "abnormal rapid eye movement sleep" ], "alt_id": [], "def": "Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements.", "synonym": [ [ "abnormal rem sleep", "abnormal rem sleep" ] ], "xref": [ "SNOMEDCT_US:69020003", "UMLS:C0392188" ], "is_a": [ "HP:0002360" ], "is_obsolete": "", "replace_id": "" }, "HP:0002495": { "name": [ "impaired vibratory sensation", "impaired vibratory sensation" ], "alt_id": [ "HP:0006836", "HP:0007116" ], "def": "A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.", "synonym": [ [ "decreased vibration sense", "decrease vibration sense" ], [ "decreased vibratory sense", "decreased vibratory sense" ], [ "diminished vibratory sense", "diminished vibratory sense" ], [ "hypopallesthesia", "hypopallesthesia" ], [ "impaired vibratory sensation", "impaired vibratory sensation" ], [ "impaired vibratory sense", "impaired vibratory sense" ] ], "xref": [ "SNOMEDCT_US:130980003", "UMLS:C1295585" ], "is_a": [ "HP:0010831" ], "is_obsolete": "", "replace_id": "" }, "HP:0002497": { "name": [ "spastic ataxia", "spastic ataxia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C564815", "UMLS:C1849156" ], "is_a": [ "HP:0001251" ], "is_obsolete": "", "replace_id": "" }, "HP:0002500": { "name": [ "abnormal cerebral white matter morphology", "abnormal cerebral white matter morphology" ], "alt_id": [ "HP:0200100" ], "def": "An abnormality of the cerebral white matter.", "synonym": [ [ "abnormality of subcortical white matter", "abnormality of subcortical white matter" ], [ "abnormality of the cerebral white matter", "abnormality of the cerebral white matter" ], [ "cerebral white matter abnormalities", "cerebral white matter abnormality" ], [ "cortical white matter abnormalities seen on mri", "cortical white matter abnormality see on mri" ], [ "leukoaraiosis", "leukoaraiosis" ], [ "white matter abnormalities", "white matter abnormality" ], [ "white matter alterations", "white matter alteration" ] ], "xref": [ "MSH:D049292", "UMLS:C0948163", "UMLS:C4020851" ], "is_a": [ "HP:0010993" ], "is_obsolete": "", "replace_id": "" }, "HP:0002501": { "name": [ "spasticity of pharyngeal muscles", "spasticity of pharyngeal muscle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1853398" ], "is_a": [ "HP:0001257" ], "is_obsolete": "", "replace_id": "" }, "HP:0002503": { "name": [ "spinocerebellar tract degeneration", "spinocerebellar tract degeneration" ], "alt_id": [], "def": "", "synonym": [ [ "degeneration of the spinocerebellar tracts", "degeneration of the spinocerebellar tract" ], [ "spinocerebellar degeneration", "spinocerebellar degeneration" ] ], "xref": [ "UMLS:C1866751" ], "is_a": [ "HP:0003133" ], "is_obsolete": "", "replace_id": "" }, "HP:0002504": { "name": [ "calcification of the small brain vessels", "calcification of the small brain vessel" ], "alt_id": [], "def": "Deposition of calcium salts within small blood vessels of the brain.", "synonym": [], "xref": [ "UMLS:C4025703" ], "is_a": [ "HP:0009145", "HP:0031306" ], "is_obsolete": "", "replace_id": "" }, "HP:0002505": { "name": [ "progressive inability to walk", "progressive inability to walk" ], "alt_id": [], "def": "", "synonym": [ [ "progressive inability to walk", "progressive inability to walk" ] ], "xref": [ "UMLS:C1836843" ], "is_a": [ "HP:0002540" ], "is_obsolete": "", "replace_id": "" }, "HP:0002506": { "name": [ "diffuse cerebral atrophy", "diffuse cerebral atrophy" ], "alt_id": [ "HP:0006954" ], "def": "Diffuse unlocalised atrophy affecting the cerebrum.", "synonym": [ [ "cerebral atrophy , diffuse", "cerebral atrophy , diffuse" ] ], "xref": [ "UMLS:C0598275" ], "is_a": [ "HP:0002059" ], "is_obsolete": "", "replace_id": "" }, "HP:0002507": { "name": [ "semilobar holoprosencephaly", "semilobar holoprosencephaly" ], "alt_id": [], "def": "A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.", "synonym": [], "xref": [ "MSH:D016142", "SNOMEDCT_US:253138008", "UMLS:C0751617" ], "is_a": [ "HP:0001360" ], "is_obsolete": "", "replace_id": "" }, "HP:0002508": { "name": [ "brainstem dysplasia", "brainstem dysplasia" ], "alt_id": [ "HP:0006991" ], "def": "A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.", "synonym": [ [ "brainstem hypoplasia / dysplasia", "brainstem hypoplasia / dysplasia" ], [ "malformation of brainstem structures", "malformation of brainstem structure" ] ], "xref": [ "UMLS:C1855677" ], "is_a": [ "HP:0002363" ], "is_obsolete": "", "replace_id": "" }, "HP:0002509": { "name": [ "limb hypertonia", "limb hypertonia" ], "alt_id": [], "def": "", "synonym": [ [ "increased muscle tone of arm or leg", "increased muscle tone of arm or leg" ] ], "xref": [ "UMLS:C1838391" ], "is_a": [ "HP:0001276", "HP:0009127" ], "is_obsolete": "", "replace_id": "" }, "HP:0002510": { "name": [ "spastic tetraplegia", "spastic tetraplegia" ], "alt_id": [ "HP:0001280" ], "def": "Spastic paralysis affecting all four limbs.", "synonym": [ [ "spastic quadriplegia", "spastic quadriplegia" ] ], "xref": [ "MSH:D011782", "SNOMEDCT_US:192965001", "UMLS:C0426970" ], "is_a": [ "HP:0001257" ], "is_obsolete": "", "replace_id": "" }, "HP:0002511": { "name": [ "alzheimer disease", "alzheimer disease" ], "alt_id": [ "HP:0006878", "HP:0007213" ], "def": "A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.", "synonym": [ [ "alzheimer disease", "alzheimer disease" ], [ "late - onset form of familial alzheimer disease", "late - onset form of familial alzheimer disease" ] ], "xref": [ "DOID:10652", "MONDO:0004975", "MSH:C536595", "MSH:D000544", "SNOMEDCT_US:230267005", "SNOMEDCT_US:26929004", "UMLS:C0002395", "UMLS:C1863051" ], "is_a": [ "HP:0002011" ], "is_obsolete": "", "replace_id": "" }, "HP:0002512": { "name": [ "brain stem compression", "brain stem compression" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:25816005", "SNOMEDCT_US:5582005", "UMLS:C0270680" ], "is_a": [ "HP:0002363" ], "is_obsolete": "", "replace_id": "" }, "HP:0002514": { "name": [ "cerebral calcification", "cerebral calcification" ], "alt_id": [ "HP:0002502", "HP:0005806", "HP:0006848" ], "def": "The presence of calcium deposition within brain structures.", "synonym": [ [ "abnormal deposits of calcium in the brain", "abnormal deposit of calcium in the brain" ], [ "brain calcification", "brain calcification" ], [ "intracerebral calcifications", "intracerebral calcification" ], [ "intracranial calcification", "intracranial calcification" ], [ "intracranial calcifications", "intracranial calcification" ] ], "xref": [ "SNOMEDCT_US:17944005", "UMLS:C0270685" ], "is_a": [ "HP:0002060", "HP:0010766" ], "is_obsolete": "", "replace_id": "" }, "HP:0002515": { "name": [ "waddling gait", "waddle gait" ], "alt_id": [], "def": "Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.", "synonym": [ [ "'waddling ' gait", "'waddling ' gait" ], [ "waddling walk", "waddle walk" ] ], "xref": [ "MSH:D020233", "SNOMEDCT_US:271706000", "UMLS:C0231712" ], "is_a": [ "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0002516": { "name": [ "increased intracranial pressure", "increase intracranial pressure" ], "alt_id": [], "def": "An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.", "synonym": [ [ "intracranial hypertension", "intracranial hypertension" ], [ "intracranial pressure elevation", "intracranial pressure elevation" ], [ "rise in pressure inside skull", "rise in pressure inside skull" ] ], "xref": [ "MSH:D019586", "SNOMEDCT_US:271719001", "UMLS:C0151740" ], "is_a": [ "HP:0012640" ], "is_obsolete": "", "replace_id": "" }, "HP:0002518": { "name": [ "abnormal periventricular white matter morphology", "abnormal periventricular white matter morphology" ], "alt_id": [], "def": "A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.", "synonym": [ [ "abnormality of the periventricular white matter", "abnormality of the periventricular white matter" ], [ "periventricular white matter abnormalities", "periventricular white matter abnormality" ] ], "xref": [ "UMLS:C2673431" ], "is_a": [ "HP:0002352", "HP:0002500" ], "is_obsolete": "", "replace_id": "" }, "HP:0002519": { "name": [ "hypnagogic hallucinations", "hypnagogic hallucination" ], "alt_id": [], "def": "Fleeting perceptual experiences that occur during the transition from wakefulness to sleep.", "synonym": [], "xref": [ "MSH:D006212", "SNOMEDCT_US:44780000", "UMLS:C0233773" ], "is_a": [ "HP:0000738" ], "is_obsolete": "", "replace_id": "" }, "HP:0002521": { "name": [ "hypsarrhythmia", "hypsarrhythmia" ], "alt_id": [], "def": "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).", "synonym": [ [ "hypsarrhythmia by eeg", "hypsarrhythmia by eeg" ] ], "xref": [ "MSH:D013036", "SNOMEDCT_US:28055006", "UMLS:C0684276" ], "is_a": [ "HP:0011198" ], "is_obsolete": "", "replace_id": "" }, "HP:0002522": { "name": [ "areflexia of lower limbs", "areflexia of low limb" ], "alt_id": [], "def": "Inability to elicit tendon reflexes in the lower limbs.", "synonym": [ [ "absent lower limb tendon reflexes", "absent low limb tendon reflex" ], [ "areflexia in lower limbs", "areflexia in low limb" ], [ "areflexia of the lower limbs", "areflexia of the low limb" ], [ "areflexia , lower limbs", "areflexia , low limb" ] ], "xref": [ "UMLS:C1856694" ], "is_a": [ "HP:0001284", "HP:0002814" ], "is_obsolete": "", "replace_id": "" }, "HP:0002524": { "name": [ "cataplexy", "cataplexy" ], "alt_id": [ "HP:0002428", "HP:0002525" ], "def": "A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.", "synonym": [], "xref": [ "MSH:D002385", "SNOMEDCT_US:46263000", "UMLS:C0007384" ], "is_a": [ "HP:0011442" ], "is_obsolete": "", "replace_id": "" }, "HP:0002526": { "name": [ "deficit in nonword repetition", "deficit in nonword repetition" ], "alt_id": [], "def": "Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.", "synonym": [], "xref": [ "UMLS:C4025702" ], "is_a": [ "HP:0002167" ], "is_obsolete": "", "replace_id": "" }, "HP:0002527": { "name": [ "falls", "fall" ], "alt_id": [], "def": "", "synonym": [ [ "falls", "fall" ] ], "xref": [ "SNOMEDCT_US:161898004", "SNOMEDCT_US:1912002", "UMLS:C0085639" ], "is_a": [ "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0002528": { "name": [ "granulovacuolar degeneration", "granulovacuolar degeneration" ], "alt_id": [], "def": "Electron-dense granules within double membrane-bound cytoplasmic vacuoles.", "synonym": [], "xref": [ "SNOMEDCT_US:90506004", "UMLS:C0333454" ], "is_a": [ "HP:0002060", "HP:0002180" ], "is_obsolete": "", "replace_id": "" }, "HP:0002529": { "name": [ "neuronal loss in central nervous system", "neuronal loss in central nervous system" ], "alt_id": [ "HP:0002400" ], "def": "", "synonym": [ [ "loss of brain cells", "loss of brain cell" ], [ "neuronal loss", "neuronal loss" ], [ "neuronal loss in cns", "neuronal loss in cns" ] ], "xref": [ "UMLS:C1850496" ], "is_a": [ "HP:0007367" ], "is_obsolete": "", "replace_id": "" }, "HP:0002530": { "name": [ "axial dystonia", "axial dystonia" ], "alt_id": [], "def": "A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.", "synonym": [ [ "truncal dystonia", "truncal dystonia" ] ], "xref": [ "UMLS:C1836149" ], "is_a": [ "HP:0001332" ], "is_obsolete": "", "replace_id": "" }, "HP:0002533": { "name": [ "abnormal posturing", "abnormal posturing" ], "alt_id": [], "def": "Involuntary flexion or extension of the arms and legs.", "synonym": [], "xref": [ "SNOMEDCT_US:43029002", "UMLS:C0231471" ], "is_a": [ "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0002536": { "name": [ "abnormal cortical gyration", "abnormal cortical gyration" ], "alt_id": [ "HP:0006900" ], "def": "An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.", "synonym": [ [ "abnormal gyration", "abnormal gyration" ], [ "cerebral gyral anomalies", "cerebral gyral anomaly" ] ], "xref": [ "UMLS:C1856019" ], "is_a": [ "HP:0002269", "HP:0002538" ], "is_obsolete": "", "replace_id": "" }, "HP:0002538": { "name": [ "abnormal cerebral cortex morphology", "abnormal cerebral cortex morphology" ], "alt_id": [], "def": "Any structural abnormality of the cerebral cortex.", "synonym": [ [ "abnormality of the cerebral cortex", "abnormality of the cerebral cortex" ] ], "xref": [ "UMLS:C4025701" ], "is_a": [ "HP:0002060" ], "is_obsolete": "", "replace_id": "" }, "HP:0002539": { "name": [ "cortical dysplasia", "cortical dysplasia" ], "alt_id": [ "HP:0007139" ], "def": "The presence of developmental dysplasia of the cerebral cortex.", "synonym": [ [ "neocortical dysplasia", "neocortical dysplasia" ] ], "xref": [ "MSH:D054220", "SNOMEDCT_US:253153000", "UMLS:C0431380" ], "is_a": [ "HP:0002538" ], "is_obsolete": "", "replace_id": "" }, "HP:0002540": { "name": [ "inability to walk", "inability to walk" ], "alt_id": [], "def": "Incapability to ambulate.", "synonym": [ [ "inability to walk", "inability to walk" ], [ "non - ambulatory", "non - ambulatory" ] ], "xref": [ "SNOMEDCT_US:282145008", "UMLS:C0560046" ], "is_a": [ "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0002542": { "name": [ "olivopontocerebellar atrophy", "olivopontocerebellar atrophy" ], "alt_id": [ "HP:0005683" ], "def": "Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.", "synonym": [ [ "olivopontocerebellar degeneration", "olivopontocerebellar degeneration" ] ], "xref": [ "MSH:D009849", "SNOMEDCT_US:67761004", "UMLS:C0028968" ], "is_a": [ "HP:0001317" ], "is_obsolete": "", "replace_id": "" }, "HP:0002544": { "name": [ "retrocollis", "retrocollis" ], "alt_id": [], "def": "A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.", "synonym": [], "xref": [ "UMLS:C3887667" ], "is_a": [ "HP:0000473" ], "is_obsolete": "", "replace_id": "" }, "HP:0002545": { "name": [ "patchy demyelination of subcortical white matter", "patchy demyelination of subcortical white matter" ], "alt_id": [], "def": "Patchy loss of myelin from nerve fibers in the central nervous system.", "synonym": [], "xref": [ "UMLS:C1857638" ], "is_a": [ "HP:0007305" ], "is_obsolete": "", "replace_id": "" }, "HP:0002546": { "name": [ "incomprehensible speech", "incomprehensible speech" ], "alt_id": [], "def": "", "synonym": [ [ "incomprehensible speech", "incomprehensible speech" ] ], "xref": [ "UMLS:C1838027" ], "is_a": [ "HP:0002167" ], "is_obsolete": "", "replace_id": "" }, "HP:0002548": { "name": [ "parkinsonism with favorable response to dopaminergic medication", "parkinsonism with favorable response to dopaminergic medication" ], "alt_id": [], "def": "Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.", "synonym": [ [ "favorable response to levodopa", "favorable response to levodopa" ], [ "favourable response to levodopa", "favourable response to levodopa" ], [ "parkinsonism with favourable response to dopaminergic medication", "parkinsonism with favourable response to dopaminergic medication" ] ], "xref": [ "UMLS:C1846868" ], "is_a": [ "HP:0001300" ], "is_obsolete": "", "replace_id": "" }, "HP:0002549": { "name": [ "deficit in phonologic short - term memory", "deficit in phonologic short - term memory" ], "alt_id": [], "def": "Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory", "synonym": [ [ "deficit in non - word repetition", "deficit in non - word repetition" ], [ "impaired non - word repetition", "impaired non - word repetition" ] ], "xref": [ "UMLS:C1847609" ], "is_a": [ "HP:0033687" ], "is_obsolete": "", "replace_id": "" }, "HP:0002550": { "name": [ "absent facial hair", "absent facial hair" ], "alt_id": [], "def": "Absence of facial hair.", "synonym": [ [ "absent facial hair", "absent facial hair" ] ], "xref": [ "UMLS:C1848192" ], "is_a": [ "HP:0002298" ], "is_obsolete": "", "replace_id": "" }, "HP:0002552": { "name": [ "trichodysplasia", "trichodysplasia" ], "alt_id": [ "HP:0004515" ], "def": "Developmental dysplasia of the hair.", "synonym": [ [ "generalised trichodysplasia", "generalise trichodysplasia" ], [ "generalized trichodysplasia", "generalize trichodysplasia" ] ], "xref": [ "UMLS:C4020850", "UMLS:C4025700" ], "is_a": [ "HP:0001595" ], "is_obsolete": "", "replace_id": "" }, "HP:0002553": { "name": [ "highly arched eyebrow", "highly arch eyebrow" ], "alt_id": [ "HP:0001584", "HP:0004533", "HP:0007681", "HP:0007804", "HP:0008505" ], "def": "Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.", "synonym": [ [ "arched eyebrows", "arch eyebrow" ], [ "bowed and upward slanting eyebrows", "bow and upward slanting eyebrow" ], [ "broad , arched eyebrows", "broad , arch eyebrow" ], [ "high arched eyebrows", "high arch eyebrow" ], [ "high , rounded eyebrows", "high , round eyebrow" ], [ "high - arched eyebrows", "high - arch eyebrow" ], [ "highly arched eyebrow", "highly arch eyebrow" ], [ "thick , flared eyebrows", "thick , flare eyebrow" ] ], "xref": [ "UMLS:C1868571", "UMLS:C4020849" ], "is_a": [ "HP:0000534" ], "is_obsolete": "", "replace_id": "" }, "HP:0002555": { "name": [ "absent pubic hair", "absent pubic hair" ], "alt_id": [ "HP:0004537", "HP:0004556" ], "def": "Absence of pubic hair.", "synonym": [ [ "absent pubic hair", "absent pubic hair" ] ], "xref": [ "UMLS:C1859391" ], "is_a": [ "HP:0002298", "HP:0100133" ], "is_obsolete": "", "replace_id": "" }, "HP:0002557": { "name": [ "hypoplastic nipples", "hypoplastic nipple" ], "alt_id": [ "HP:0002560", "HP:0003188", "HP:0006652" ], "def": "Underdevelopment of the nipple.", "synonym": [ [ "nipple hypoplasia", "nipple hypoplasia" ], [ "small nipples", "small nipple" ] ], "xref": [ "SNOMEDCT_US:268290005", "UMLS:C0432355" ], "is_a": [ "HP:0006709" ], "is_obsolete": "", "replace_id": "" }, "HP:0002558": { "name": [ "supernumerary nipple", "supernumerary nipple" ], "alt_id": [ "HP:0002559" ], "def": "Presence of more than two nipples.", "synonym": [ [ "accessory mamilla", "accessory mamilla" ], [ "accessory mamillas", "accessory mamilla" ], [ "accessory nipple", "accessory nipple" ], [ "accessory nipples", "accessory nipple" ], [ "increased nipple number", "increase nipple number" ], [ "supernumerary nipples", "supernumerary nipple" ] ], "xref": [ "Fyler:4234", "MSH:C562557", "SNOMEDCT_US:50956007", "UMLS:C0266011" ], "is_a": [ "HP:0004404" ], "is_obsolete": "", "replace_id": "" }, "HP:0002561": { "name": [ "absent nipple", "absent nipple" ], "alt_id": [], "def": "Congenital failure to develop, and absence of, the nipple.", "synonym": [ [ "absent nipple", "absent nipple" ], [ "absent nipples", "absent nipple" ], [ "athelia", "athelia" ] ], "xref": [ "SNOMEDCT_US:248820000", "UMLS:C0425795" ], "is_a": [ "HP:0006709" ], "is_obsolete": "", "replace_id": "" }, "HP:0002562": { "name": [ "low - set nipples", "low - set nipple" ], "alt_id": [], "def": "Placement of the nipples at a lower than normal location.", "synonym": [ [ "low - set nipples", "low - set nipple" ] ], "xref": [ "UMLS:C1836933" ], "is_a": [ "HP:0004404" ], "is_obsolete": "", "replace_id": "" }, "HP:0002563": { "name": [ "constrictive pericarditis", "constrictive pericarditis" ], "alt_id": [], "def": "Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium.", "synonym": [], "xref": [ "MSH:D010494", "SNOMEDCT_US:85598007", "UMLS:C0031048" ], "is_a": [ "HP:0001701" ], "is_obsolete": "", "replace_id": "" }, "HP:0002564": { "name": [ "obsolete malformation of the heart and great vessels", "obsolete malformation of the heart and great vessel" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0030680" }, "HP:0002566": { "name": [ "intestinal malrotation", "intestinal malrotation" ], "alt_id": [ "HP:0002026" ], "def": "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.", "synonym": [ [ "gut malrotation", "gut malrotation" ], [ "malrotation", "malrotation" ] ], "xref": [ "MEDDRA:10064024 \"Intestinal malrotation\"", "MSH:C562456", "SNOMEDCT_US:253789002", "SNOMEDCT_US:29980002", "SNOMEDCT_US:48641006", "UMLS:C0221210" ], "is_a": [ "HP:0002242" ], "is_obsolete": "", "replace_id": "" }, "HP:0002570": { "name": [ "steatorrhea", "steatorrhea" ], "alt_id": [], "def": "Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.", "synonym": [ [ "fat in faeces", "fat in faeces" ], [ "fat in feces", "fat in feces" ], [ "fatty stool", "fatty stool" ] ], "xref": [ "MSH:D045602", "SNOMEDCT_US:27868004", "SNOMEDCT_US:66187002", "UMLS:C0038238" ], "is_a": [ "HP:0002630" ], "is_obsolete": "", "replace_id": "" }, "HP:0002571": { "name": [ "achalasia", "achalasia" ], "alt_id": [], "def": "A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.", "synonym": [ [ "achalasia of the esophagus", "achalasia of the esophagus" ], [ "achalasia of the oesophagus", "achalasia of the oesophagus" ] ], "xref": [ "MEDDRA:10030136 \"Oesophageal achalasia\"", "MSH:D004931", "SNOMEDCT_US:45564002", "UMLS:C0014848" ], "is_a": [ "HP:0031857" ], "is_obsolete": "", "replace_id": "" }, "HP:0002572": { "name": [ "episodic vomiting", "episodic vomit" ], "alt_id": [], "def": "Paroxysmal, recurrent episodes of vomiting.", "synonym": [ [ "episodic vomiting", "episodic vomit" ], [ "frequent vomiting", "frequent vomit" ] ], "xref": [ "UMLS:C1838993", "UMLS:C1857202" ], "is_a": [ "HP:0002013" ], "is_obsolete": "", "replace_id": "" }, "HP:0002573": { "name": [ "hematochezia", "hematochezia" ], "alt_id": [ "HP:0002255", "HP:0002609" ], "def": "The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.", "synonym": [ [ "rectal bleeding", "rectal bleeding" ], [ "recurrent rectal bleeding", "recurrent rectal bleeding" ] ], "xref": [ "MSH:D006471", "SNOMEDCT_US:236068001", "SNOMEDCT_US:405729008", "UMLS:C0018932" ], "is_a": [ "HP:0002239", "HP:0025085" ], "is_obsolete": "", "replace_id": "" }, "HP:0002574": { "name": [ "episodic abdominal pain", "episodic abdominal pain" ], "alt_id": [], "def": "An intermittent form of abdominal pain.", "synonym": [ [ "intermittent abdominal pain", "intermittent abdominal pain" ] ], "xref": [ "UMLS:C0262527", "UMLS:C3808022" ], "is_a": [ "HP:0002027", "HP:0032148" ], "is_obsolete": "", "replace_id": "" }, "HP:0002575": { "name": [ "tracheoesophageal fistula", "tracheoesophageal fistula" ], "alt_id": [], "def": "An abnormal connection (fistula) between the esophagus and the trachea.", "synonym": [ [ "abnormal connection between trachea and esophagus", "abnormal connection between trachea and esophagus" ], [ "abnormal connection between trachea and oesophagus", "abnormal connection between trachea and oesophagus" ] ], "xref": [ "Fyler:4202", "MEDDRA:10044310 \"Tracheo-oesophageal fistula\"", "MSH:D014138", "SNOMEDCT_US:95435007", "UMLS:C0040588" ], "is_a": [ "HP:0002031", "HP:0002778" ], "is_obsolete": "", "replace_id": "" }, "HP:0002576": { "name": [ "intussusception", "intussusception" ], "alt_id": [], "def": "An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.", "synonym": [], "xref": [ "MEDDRA:10022863 \"Intussusception\"", "MSH:D007443", "SNOMEDCT_US:35327006", "SNOMEDCT_US:49723003", "UMLS:C0021933" ], "is_a": [ "HP:0002242" ], "is_obsolete": "", "replace_id": "" }, "HP:0002577": { "name": [ "abnormal stomach morphology", "abnormal stomach morphology" ], "alt_id": [], "def": "An abnormality of the stomach.", "synonym": [ [ "abnormality of the stomach", "abnormality of the stomach" ] ], "xref": [ "UMLS:C4025699" ], "is_a": [ "HP:0012718" ], "is_obsolete": "", "replace_id": "" }, "HP:0002578": { "name": [ "gastroparesis", "gastroparesis" ], "alt_id": [], "def": "Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.", "synonym": [ [ "delayed gastric emptying", "delay gastric empty" ] ], "xref": [ "MSH:D018589", "SNOMEDCT_US:196753007", "SNOMEDCT_US:235675006", "UMLS:C0152020" ], "is_a": [ "HP:0011804", "HP:0025032" ], "is_obsolete": "", "replace_id": "" }, "HP:0002579": { "name": [ "gastrointestinal dysmotility", "gastrointestinal dysmotility" ], "alt_id": [], "def": "Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.", "synonym": [ [ "gi dysmotility", "gi dysmotility" ] ], "xref": [ "UMLS:C1836923" ], "is_a": [ "HP:0030895" ], "is_obsolete": "", "replace_id": "" }, "HP:0002580": { "name": [ "volvulus", "volvulus" ], "alt_id": [], "def": "Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.", "synonym": [], "xref": [ "MSH:D045822", "SNOMEDCT_US:90738007", "SNOMEDCT_US:9707006", "UMLS:C0042961" ], "is_a": [ "HP:0002242" ], "is_obsolete": "", "replace_id": "" }, "HP:0002582": { "name": [ "chronic atrophic gastritis", "chronic atrophic gastritis" ], "alt_id": [], "def": "A form of chronic gastritis associated with atrophic gastric mucous membrane.", "synonym": [], "xref": [ "MSH:D005757", "SNOMEDCT_US:84568007", "UMLS:C0017154" ], "is_a": [ "HP:0005231" ], "is_obsolete": "", "replace_id": "" }, "HP:0002583": { "name": [ "colitis", "colitis" ], "alt_id": [], "def": "Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.", "synonym": [], "xref": [ "MSH:D003092", "SNOMEDCT_US:64226004", "UMLS:C0009319" ], "is_a": [ "HP:0002037" ], "is_obsolete": "", "replace_id": "" }, "HP:0002584": { "name": [ "intestinal bleeding", "intestinal bleeding" ], "alt_id": [], "def": "Bleeding from the intestines.", "synonym": [ [ "intestinal bleeding", "intestinal bleeding" ], [ "intestinal haemorrhage", "intestinal haemorrhage" ], [ "intestinal hemorrhage", "intestinal hemorrhage" ] ], "xref": [ "SNOMEDCT_US:712510007", "UMLS:C0267373" ], "is_a": [ "HP:0002239", "HP:0002242" ], "is_obsolete": "", "replace_id": "" }, "HP:0002585": { "name": [ "abnormality of the peritoneum", "abnormality of the peritoneum" ], "alt_id": [], "def": "An abnormality of the peritoneum.", "synonym": [], "xref": [ "UMLS:C4025698" ], "is_a": [ "HP:0002012" ], "is_obsolete": "", "replace_id": "" }, "HP:0002586": { "name": [ "peritonitis", "peritonitis" ], "alt_id": [ "HP:0100591" ], "def": "Inflammation of the peritoneum.", "synonym": [ [ "inflammation of the peritoneum", "inflammation of the peritoneum" ] ], "xref": [ "MSH:D010538", "SNOMEDCT_US:48661000", "UMLS:C0031154" ], "is_a": [ "HP:0002585", "HP:0045073" ], "is_obsolete": "", "replace_id": "" }, "HP:0002587": { "name": [ "projectile vomiting", "projectile vomit" ], "alt_id": [], "def": "Vomiting that ejects the gastric contents with great force.", "synonym": [ [ "projectile vomiting", "projectile vomit" ] ], "xref": [ "SNOMEDCT_US:8579004", "UMLS:C0221151" ], "is_a": [ "HP:0002013" ], "is_obsolete": "", "replace_id": "" }, "HP:0002588": { "name": [ "duodenal ulcer", "duodenal ulcer" ], "alt_id": [], "def": "An erosion of the mucous membrane in a portion of the duodenum.", "synonym": [], "xref": [ "MEDDRA:10013836 \"Duodenal ulcer\"", "MSH:D004381", "SNOMEDCT_US:367474008", "SNOMEDCT_US:51868009", "UMLS:C0013295" ], "is_a": [ "HP:0002246" ], "is_obsolete": "", "replace_id": "" }, "HP:0002589": { "name": [ "gastrointestinal atresia", "gastrointestinal atresia" ], "alt_id": [], "def": "", "synonym": [ [ "gi atresia", "gi atresia" ] ], "xref": [ "UMLS:C4025697" ], "is_a": [ "HP:0012718" ], "is_obsolete": "", "replace_id": "" }, "HP:0002590": { "name": [ "paralytic ileus", "paralytic ileus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D007418", "SNOMEDCT_US:55525008", "UMLS:C0030446" ], "is_a": [ "HP:0002595" ], "is_obsolete": "", "replace_id": "" }, "HP:0002591": { "name": [ "polyphagia", "polyphagia" ], "alt_id": [ "HP:0000724", "HP:0002042" ], "def": "A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.", "synonym": [ [ "hyperphagia", "hyperphagia" ], [ "increased appetite", "increase appetite" ], [ "voracious appetite", "voracious appetite" ] ], "xref": [ "MSH:D006963", "SNOMEDCT_US:267023007", "SNOMEDCT_US:58424009", "SNOMEDCT_US:72405004", "UMLS:C0020505", "UMLS:C0232461" ], "is_a": [ "HP:0100738" ], "is_obsolete": "", "replace_id": "" }, "HP:0002592": { "name": [ "gastric ulcer", "gastric ulcer" ], "alt_id": [], "def": "An ulcer, that is, an erosion of an area of the gastric mucous membrane.", "synonym": [ [ "stomach ulcer", "stomach ulcer" ] ], "xref": [ "MEDDRA:10017822 \"Gastric ulcer\"", "MSH:D013276", "SNOMEDCT_US:397825006", "UMLS:C0038358" ], "is_a": [ "HP:0004295", "HP:0004398" ], "is_obsolete": "", "replace_id": "" }, "HP:0002593": { "name": [ "intestinal lymphangiectasia", "intestinal lymphangiectasia" ], "alt_id": [], "def": "Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.", "synonym": [], "xref": [ "MSH:D008201", "SNOMEDCT_US:197260007", "UMLS:C0024215" ], "is_a": [ "HP:0002242", "HP:0031842" ], "is_obsolete": "", "replace_id": "" }, "HP:0002594": { "name": [ "pancreatic hypoplasia", "pancreatic hypoplasia" ], "alt_id": [ "HP:0005221" ], "def": "Hypoplasia of the pancreas.", "synonym": [ [ "hypoplastic pancreas", "hypoplastic pancreas" ], [ "underdeveloped pancreas", "underdeveloped pancreas" ] ], "xref": [ "SNOMEDCT_US:68591005", "UMLS:C0266267" ], "is_a": [ "HP:0100800" ], "is_obsolete": "", "replace_id": "" }, "HP:0002595": { "name": [ "ileus", "ileus" ], "alt_id": [], "def": "Acute obstruction of the intestines preventing passage of the contents of the intestines.", "synonym": [ [ "gastrointestinal atony", "gastrointestinal atony" ] ], "xref": [ "MEDDRA:10021328 \"Ileus\"", "MSH:D045823", "UMLS:C1258215" ], "is_a": [ "HP:0002579", "HP:0005214" ], "is_obsolete": "", "replace_id": "" }, "HP:0002597": { "name": [ "abnormality of the vasculature", "abnormality of the vasculature" ], "alt_id": [], "def": "An abnormality of the vasculature.", "synonym": [ [ "abnormality of blood vessels", "abnormality of blood vessel" ], [ "abnormality of the vasculature", "abnormality of the vasculature" ], [ "vascular abnormalities", "vascular abnormality" ] ], "xref": [ "UMLS:C0241657" ], "is_a": [ "HP:0001626" ], "is_obsolete": "", "replace_id": "" }, "HP:0002599": { "name": [ "head titubation", "head titubation" ], "alt_id": [], "def": "A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.", "synonym": [], "xref": [ "UMLS:C1608410" ], "is_a": [ "HP:0002346", "HP:0002457", "HP:0030187" ], "is_obsolete": "", "replace_id": "" }, "HP:0002600": { "name": [ "hyporeflexia of lower limbs", "hyporeflexia of low limb" ], "alt_id": [ "HP:0006861" ], "def": "Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.", "synonym": [ [ "hyporeflexia in lower limbs", "hyporeflexia in low limb" ], [ "hyporeflexia of the lower limbs", "hyporeflexia of the low limb" ], [ "hyporeflexia , lower limbs", "hyporeflexia , low limb" ], [ "hyporeflexia / areflexia in lower limbs", "hyporeflexia / areflexia in low limb" ] ], "xref": [ "UMLS:C1834696" ], "is_a": [ "HP:0001265", "HP:0002814" ], "is_obsolete": "", "replace_id": "" }, "HP:0002601": { "name": [ "paresis of extensor muscles of the big toe", "paresis of extensor muscle of the big toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025696" ], "is_a": [ "HP:0001844", "HP:0002460" ], "is_obsolete": "", "replace_id": "" }, "HP:0002604": { "name": [ "gastrointestinal telangiectasia", "gastrointestinal telangiectasia" ], "alt_id": [], "def": "Telangiectasia affecting the gastrointestinal tract.", "synonym": [ [ "gi telangiectasia", "gi telangiectasia" ], [ "small , enlarged blood vessels near skin", "small , enlarge blood vessel near skin" ] ], "xref": [ "UMLS:C1619711" ], "is_a": [ "HP:0004296", "HP:0100579" ], "is_obsolete": "", "replace_id": "" }, "HP:0002605": { "name": [ "hepatic necrosis", "hepatic necrosis" ], "alt_id": [], "def": "The presence of cell death (necrosis) affecting the liver.", "synonym": [], "xref": [ "SNOMEDCT_US:87248009", "UMLS:C0151798" ], "is_a": [ "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0002607": { "name": [ "bowel incontinence", "bowel incontinence" ], "alt_id": [ "HP:0007147" ], "def": "Involuntary fecal soiling in adults and children who have usually already been toilet trained.", "synonym": [ [ "anal incontinence", "anal incontinence" ], [ "faecal incontinence", "faecal incontinence" ], [ "fecal incontinence", "fecal incontinence" ], [ "loss of bowel control", "loss of bowel control" ] ], "xref": [ "MSH:D005242", "SNOMEDCT_US:72042002", "UMLS:C0015732" ], "is_a": [ "HP:0012700", "HP:0031064" ], "is_obsolete": "", "replace_id": "" }, "HP:0002608": { "name": [ "celiac disease", "celiac disease" ], "alt_id": [], "def": "Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases.", "synonym": [ [ "celiac disease", "celiac disease" ], [ "celiac sprue", "celiac sprue" ], [ "coeliac disease", "coeliac disease" ], [ "coeliac sprue", "coeliac sprue" ] ], "xref": [ "MSH:D002446", "SNOMEDCT_US:396331005", "UMLS:C0007570" ], "is_a": [ "HP:0002244", "HP:0100326" ], "is_obsolete": "", "replace_id": "" }, "HP:0002611": { "name": [ "cholestatic liver disease", "cholestatic liver disease" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C0860204" ], "is_a": [ "HP:0001396" ], "is_obsolete": "", "replace_id": "" }, "HP:0002612": { "name": [ "congenital hepatic fibrosis", "congenital hepatic fibrosis" ], "alt_id": [], "def": "The presence of fibrosis of that part of the liver with congenital onset.", "synonym": [ [ "congenital liver fibrosis", "congenital liver fibrosis" ], [ "excessive buildup of connective tissue and scarring of liver at birth", "excessive buildup of connective tissue and scarring of liver at birth" ] ], "xref": [ "MSH:C562378", "SNOMEDCT_US:79607001", "UMLS:C0009714" ], "is_a": [ "HP:0001395" ], "is_obsolete": "", "replace_id": "" }, "HP:0002613": { "name": [ "biliary cirrhosis", "biliary cirrhosis" ], "alt_id": [], "def": "Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.", "synonym": [ [ "primary biliary cirrhosis", "primary biliary cirrhosis" ] ], "xref": [ "MSH:D008105", "SNOMEDCT_US:1761006", "SNOMEDCT_US:31712002", "UMLS:C0008312", "UMLS:C0023892" ], "is_a": [ "HP:0012440" ], "is_obsolete": "", "replace_id": "" }, "HP:0002614": { "name": [ "hepatic periportal necrosis", "hepatic periportal necrosis" ], "alt_id": [], "def": "A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.", "synonym": [], "xref": [ "UMLS:C0546389" ], "is_a": [ "HP:0002605" ], "is_obsolete": "", "replace_id": "" }, "HP:0002615": { "name": [ "hypotension", "hypotension" ], "alt_id": [ "HP:0005127", "HP:0006701" ], "def": "Low Blood Pressure, vascular hypotension.", "synonym": [ [ "arterial hypotension", "arterial hypotension" ], [ "low blood pressure", "low blood pressure" ] ], "xref": [ "MSH:D007022", "SNOMEDCT_US:45007003", "UMLS:C0020649" ], "is_a": [ "HP:0030972" ], "is_obsolete": "", "replace_id": "" }, "HP:0002616": { "name": [ "aortic root aneurysm", "aortic root aneurysm" ], "alt_id": [ "HP:0002631", "HP:0004750", "HP:0005125" ], "def": "An abnormal localized widening (dilatation) of the aortic root.", "synonym": [ [ "aortic root dilatation", "aortic root dilatation" ], [ "bulge in wall of root of large artery that carries blood away from heart", "bulge in wall of root of large artery that carry blood away from heart" ], [ "increased aortic root diameter", "increase aortic root diameter" ] ], "xref": [ "SNOMEDCT_US:251036003", "UMLS:C0238669" ], "is_a": [ "HP:0012727" ], "is_obsolete": "", "replace_id": "" }, "HP:0002617": { "name": [ "vascular dilatation", "vascular dilatation" ], "alt_id": [], "def": "Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.", "synonym": [ [ "aneurysm", "aneurysm" ], [ "aneurysmal dilatation", "aneurysmal dilatation" ], [ "aneurysmal disease", "aneurysmal disease" ], [ "aneurysms", "aneurysm" ], [ "wider than typical opening or gap", "wide than typical opening or gap" ] ], "xref": [ "Fyler:2399", "MSH:D000783", "SNOMEDCT_US:432119003", "SNOMEDCT_US:85659009", "UMLS:C0002940", "UMLS:C4020848" ], "is_a": [ "HP:0033353" ], "is_obsolete": "", "replace_id": "" }, "HP:0002619": { "name": [ "varicose veins", "varicose vein" ], "alt_id": [], "def": "Enlarged and tortuous veins.", "synonym": [], "xref": [ "MSH:D014648", "SNOMEDCT_US:128060009", "SNOMEDCT_US:12856003", "SNOMEDCT_US:399989005", "UMLS:C0042345" ], "is_a": [ "HP:0005293" ], "is_obsolete": "", "replace_id": "" }, "HP:0002621": { "name": [ "atherosclerosis", "atherosclerosis" ], "alt_id": [], "def": "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.", "synonym": [ [ "atherosclerotic cardiovascular disease", "atherosclerotic cardiovascular disease" ], [ "narrowing and hardening of arteries", "narrowing and hardening of artery" ], [ "plaque build - up in arteries", "plaque build - up in artery" ] ], "xref": [ "MSH:D050197", "SNOMEDCT_US:38716007", "UMLS:C0004153", "UMLS:C4280569" ], "is_a": [ "HP:0002634" ], "is_obsolete": "", "replace_id": "" }, "HP:0002622": { "name": [ "obsolete dissecting aortic dilatation", "obsolete dissect aortic dilatation" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0002647" }, "HP:0002623": { "name": [ "overriding aorta", "override aorta" ], "alt_id": [], "def": "An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.", "synonym": [ [ "dextroposition of aorta", "dextroposition of aorta" ], [ "overriding aortic valve", "override aortic valve" ] ], "xref": [ "Fyler:1432", "SNOMEDCT_US:63934006", "UMLS:C0011818", "UMLS:C0265886" ], "is_a": [ "HP:0001679" ], "is_obsolete": "", "replace_id": "" }, "HP:0002624": { "name": [ "abnormal venous morphology", "abnormal venous morphology" ], "alt_id": [], "def": "An anomaly of vein.", "synonym": [ [ "abnormal vein", "abnormal vein" ], [ "venous abnormality", "venous abnormality" ] ], "xref": [ "UMLS:C0241665" ], "is_a": [ "HP:0033353" ], "is_obsolete": "", "replace_id": "" }, "HP:0002625": { "name": [ "deep venous thrombosis", "deep venous thrombosis" ], "alt_id": [], "def": "Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.", "synonym": [ [ "blood clot in a deep vein", "blood clot in a deep vein" ], [ "deep vein thrombosis", "deep vein thrombosis" ], [ "multiple deep venous thrombosis", "multiple deep venous thrombosis" ] ], "xref": [ "MSH:D020246", "SNOMEDCT_US:128053003", "UMLS:C0149871" ], "is_a": [ "HP:0004936" ], "is_obsolete": "", "replace_id": "" }, "HP:0002626": { "name": [ "venous varicosities of celiac and mesenteric vessels", "venous varicosity of celiac and mesenteric vessel" ], "alt_id": [], "def": "Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.", "synonym": [ [ "venous varicosities of coeliac and mesenteric vessels", "venous varicosity of coeliac and mesenteric vessel" ] ], "xref": [ "UMLS:C1857692" ], "is_a": [ "HP:0002619" ], "is_obsolete": "", "replace_id": "" }, "HP:0002627": { "name": [ "right aortic arch with mirror image branching", "right aortic arch with mirror image branching" ], "alt_id": [], "def": "The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.", "synonym": [], "xref": [ "UMLS:C4025695" ], "is_a": [ "HP:0012020" ], "is_obsolete": "", "replace_id": "" }, "HP:0002629": { "name": [ "gastrointestinal arteriovenous malformation", "gastrointestinal arteriovenous malformation" ], "alt_id": [], "def": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.", "synonym": [ [ "gi arteriovenous malformation", "gi arteriovenous malformation" ] ], "xref": [ "UMLS:C0744321" ], "is_a": [ "HP:0004296", "HP:0100026" ], "is_obsolete": "", "replace_id": "" }, "HP:0002630": { "name": [ "fat malabsorption", "fat malabsorption" ], "alt_id": [], "def": "Abnormality of the absorption of fat from the gastrointestinal tract.", "synonym": [], "xref": [ "SNOMEDCT_US:197494007", "UMLS:C0554103" ], "is_a": [ "HP:0002024", "HP:0002244" ], "is_obsolete": "", "replace_id": "" }, "HP:0002631": { "name": [ "obsolete dilatation of ascending aorta", "obsolete dilatation of ascend aorta" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0002616" }, "HP:0002632": { "name": [ "low - to - normal blood pressure", "low - to - normal blood pressure" ], "alt_id": [], "def": "", "synonym": [ [ "low - to - normal blood pressure", "low - to - normal blood pressure" ], [ "low - to - normal bp", "low - to - normal bp" ] ], "xref": [ "UMLS:C1866500" ], "is_a": [ "HP:0002615" ], "is_obsolete": "", "replace_id": "" }, "HP:0002633": { "name": [ "vasculitis", "vasculitis" ], "alt_id": [], "def": "Inflammation of blood vessel.", "synonym": [ [ "angiitis", "angiitis" ], [ "inflammation of blood vessel", "inflammation of blood vessel" ] ], "xref": [ "MSH:D014657", "SNOMEDCT_US:31996006", "UMLS:C0042384" ], "is_a": [ "HP:0033353" ], "is_obsolete": "", "replace_id": "" }, "HP:0002634": { "name": [ "arteriosclerosis", "arteriosclerosis" ], "alt_id": [], "def": "Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.", "synonym": [ [ "hardened artery wall", "harden artery wall" ] ], "xref": [ "MSH:D001161", "SNOMEDCT_US:107671003", "SNOMEDCT_US:28960008", "SNOMEDCT_US:72092001", "UMLS:C0003850", "UMLS:C4280568" ], "is_a": [ "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:0002635": { "name": [ "type iv atherosclerotic lesion", "type iv atherosclerotic lesion" ], "alt_id": [], "def": "In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.", "synonym": [ [ "atheromatosis", "atheromatosis" ] ], "xref": [ "MSH:D050197", "SNOMEDCT_US:38716007", "UMLS:C0004153" ], "is_a": [ "HP:0031678" ], "is_obsolete": "", "replace_id": "" }, "HP:0002636": { "name": [ "dilatation of an abdominal artery", "dilatation of an abdominal artery" ], "alt_id": [], "def": "Abnormal outpouching or sac-like dilatation in an artery that originates from he abdominal aorta.", "synonym": [ [ "aneurysm of an abdominal artery", "aneurysm of an abdominal artery" ] ], "xref": [ "UMLS:C4025694" ], "is_a": [ "HP:0002617", "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:0002637": { "name": [ "cerebral ischemia", "cerebral ischemia" ], "alt_id": [], "def": "", "synonym": [ [ "brain ischemia", "brain ischemia" ], [ "cerebrovascular ischemia", "cerebrovascular ischemia" ], [ "disruption of blood oxygen supply to brain", "disruption of blood oxygen supply to brain" ] ], "xref": [ "MSH:D002545", "SNOMEDCT_US:287731003", "SNOMEDCT_US:389100007", "UMLS:C0007786", "UMLS:C0917798" ], "is_a": [ "HP:0033401" ], "is_obsolete": "", "replace_id": "" }, "HP:0002638": { "name": [ "superficial thrombophlebitis", "superficial thrombophlebitis" ], "alt_id": [], "def": "Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).", "synonym": [], "xref": [ "SNOMEDCT_US:2477008", "UMLS:C1510431" ], "is_a": [ "HP:0004418" ], "is_obsolete": "", "replace_id": "" }, "HP:0002639": { "name": [ "budd - chiari syndrome", "budd - chiari syndrome" ], "alt_id": [], "def": "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience.", "synonym": [], "xref": [ "MSH:D006502", "SNOMEDCT_US:82385007", "UMLS:C0856761" ], "is_a": [ "HP:0030846" ], "is_obsolete": "", "replace_id": "" }, "HP:0002640": { "name": [ "hypertension associated with pheochromocytoma", "hypertension associate with pheochromocytoma" ], "alt_id": [], "def": "A type of hypertension associated with pheochromocytoma.", "synonym": [], "xref": [ "UMLS:C4025693" ], "is_a": [ "HP:0000822" ], "is_obsolete": "", "replace_id": "" }, "HP:0002641": { "name": [ "peripheral thrombosis", "peripheral thrombosis" ], "alt_id": [], "def": "", "synonym": [ [ "peripheral blood clot", "peripheral blood clot" ] ], "xref": [ "UMLS:C1849749" ], "is_a": [ "HP:0001977" ], "is_obsolete": "", "replace_id": "" }, "HP:0002642": { "name": [ "arteriovenous fistulas of celiac and mesenteric vessels", "arteriovenous fistula of celiac and mesenteric vessel" ], "alt_id": [], "def": "", "synonym": [ [ "arteriovenous fistulas of coeliac and mesenteric vessels", "arteriovenous fistula of coeliac and mesenteric vessel" ] ], "xref": [ "UMLS:C1857693" ], "is_a": [ "HP:0002624", "HP:0004947" ], "is_obsolete": "", "replace_id": "" }, "HP:0002643": { "name": [ "neonatal respiratory distress", "neonatal respiratory distress" ], "alt_id": [], "def": "Respiratory difficulty as newborn.", "synonym": [ [ "infantile respiratory distress", "infantile respiratory distress" ], [ "neonatal respiratory distress", "neonatal respiratory distress" ], [ "newborn respiratory distress", "newborn respiratory distress" ], [ "respiratory distress , neonatal", "respiratory distress , neonatal" ] ], "xref": [ "UMLS:C0852283" ], "is_a": [ "HP:0002093" ], "is_obsolete": "", "replace_id": "" }, "HP:0002644": { "name": [ "abnormality of pelvic girdle bone morphology", "abnormality of pelvic girdle bone morphology" ], "alt_id": [], "def": "An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.", "synonym": [ [ "abnormal shape of pelvic girdle bone", "abnormal shape of pelvic girdle bone" ], [ "abnormality of the pelvic girdle", "abnormality of the pelvic girdle" ] ], "xref": [ "UMLS:C4020847" ], "is_a": [ "HP:0011844" ], "is_obsolete": "", "replace_id": "" }, "HP:0002645": { "name": [ "wormian bones", "wormian bone" ], "alt_id": [], "def": "The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.", "synonym": [ [ "extra bones within cranial sutures", "extra bone within cranial suture" ], [ "intra sutural bones", "intra sutural bone" ], [ "intrasutural bones", "intrasutural bone" ], [ "islands of bone within cranial sutures", "island of bone within cranial suture" ] ], "xref": [ "SNOMEDCT_US:113194005", "UMLS:C0222716" ], "is_a": [ "HP:0011329" ], "is_obsolete": "", "replace_id": "" }, "HP:0002647": { "name": [ "aortic dissection", "aortic dissection" ], "alt_id": [ "HP:0002622" ], "def": "Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.", "synonym": [ [ "tear in inner wall of large artery that carries blood away from heart", "tear in inner wall of large artery that carry blood away from heart" ] ], "xref": [ "SNOMEDCT_US:308546005", "UMLS:C0340643" ], "is_a": [ "HP:0001679" ], "is_obsolete": "", "replace_id": "" }, "HP:0002648": { "name": [ "abnormality of calvarial morphology", "abnormality of calvarial morphology" ], "alt_id": [], "def": "The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.", "synonym": [ [ "abnormal cranium morphology", "abnormal cranium morphology" ], [ "abnormality of cranial bone morphology", "abnormality of cranial bone morphology" ], [ "abnormality of skull bone morphology", "abnormality of skull bone morphology" ], [ "abnormality of the shape of calvarium", "abnormality of the shape of calvarium" ], [ "abnormality of the shape of cranium", "abnormality of the shape of cranium" ], [ "abnormality of the shape of skull bones", "abnormality of the shape of skull bone" ], [ "abnormally shaped skull", "abnormally shape skull" ] ], "xref": [ "UMLS:C4025692", "UMLS:C4280260" ], "is_a": [ "HP:0002683" ], "is_obsolete": "", "replace_id": "" }, "HP:0002650": { "name": [ "scoliosis", "scoliosis" ], "alt_id": [ "HP:0002770", "HP:0003303", "HP:0003317", "HP:0003415" ], "def": "The presence of an abnormal lateral curvature of the spine.", "synonym": [], "xref": [ "Fyler:4160", "MSH:D013121", "SNOMEDCT_US:111266001", "SNOMEDCT_US:64217002", "UMLS:C0037932", "UMLS:C0700208" ], "is_a": [ "HP:0010674" ], "is_obsolete": "", "replace_id": "" }, "HP:0002651": { "name": [ "spondyloepimetaphyseal dysplasia", "spondyloepimetaphyseal dysplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:254062008", "UMLS:C0432211" ], "is_a": [ "HP:0002652" ], "is_obsolete": "", "replace_id": "" }, "HP:0002652": { "name": [ "skeletal dysplasia", "skeletal dysplasia" ], "alt_id": [ "HP:0005685" ], "def": "A general term describing features characterized by abnormal development of bones and connective tissues.", "synonym": [ [ "abnormal skeletal development", "abnormal skeletal development" ] ], "xref": [ "MSH:D010009", "SNOMEDCT_US:105985007", "SNOMEDCT_US:240190009", "UMLS:C0029422", "UMLS:C4280567" ], "is_a": [ "HP:0011842" ], "is_obsolete": "", "replace_id": "" }, "HP:0002653": { "name": [ "bone pain", "bone pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.", "synonym": [ [ "bone pain", "bone pain" ] ], "xref": [ "SNOMEDCT_US:12584003", "UMLS:C0151825" ], "is_a": [ "HP:0011843", "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0002654": { "name": [ "multiple epiphyseal dysplasia", "multiple epiphyseal dysplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D010009", "SNOMEDCT_US:59708000", "UMLS:C0026760" ], "is_a": [ "HP:0002652" ], "is_obsolete": "", "replace_id": "" }, "HP:0002655": { "name": [ "spondyloepiphyseal dysplasia", "spondyloepiphyseal dysplasia" ], "alt_id": [ "HP:0002776", "HP:0005893" ], "def": "A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).", "synonym": [ [ "spondyloepiphyseal dysplasia tarda", "spondyloepiphyseal dysplasia tarda" ] ], "xref": [ "MSH:D010009", "UMLS:C0038015" ], "is_a": [ "HP:0002652" ], "is_obsolete": "", "replace_id": "" }, "HP:0002656": { "name": [ "epiphyseal dysplasia", "epiphyseal dysplasia" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal development of end part of bone", "abnormal development of end part of bone" ], [ "abnormal development of the ends of long bones in arms and legs", "abnormal development of the end of long bone in arm and leg" ] ], "xref": [ "SNOMEDCT_US:254080004", "UMLS:C0392476", "UMLS:C4280566" ], "is_a": [ "HP:0002652", "HP:0005930" ], "is_obsolete": "", "replace_id": "" }, "HP:0002657": { "name": [ "spondylometaphyseal dysplasia", "spondylometaphyseal dysplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C537501", "SNOMEDCT_US:702350003", "UMLS:C0700635" ], "is_a": [ "HP:0002652" ], "is_obsolete": "", "replace_id": "" }, "HP:0002659": { "name": [ "increased susceptibility to fractures", "increase susceptibility to fracture" ], "alt_id": [ "HP:0002662", "HP:0002798", "HP:0005710", "HP:0005783", "HP:0005931" ], "def": "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.", "synonym": [ [ "abnormal susceptibility to fractures", "abnormal susceptibility to fracture" ], [ "bone fragility", "bone fragility" ], [ "frequent broken bones", "frequent break bone" ], [ "increased bone fragility", "increase bone fragility" ], [ "increased susceptibility to fractures", "increase susceptibility to fracture" ], [ "increased tendency to fractures", "increase tendency to fracture" ] ], "xref": [ "UMLS:C1390474" ], "is_a": [ "HP:0011843" ], "is_obsolete": "", "replace_id": "" }, "HP:0002661": { "name": [ "painless fractures due to injury", "painless fracture due to injury" ], "alt_id": [], "def": "An increased tendency to fractures following trauma, with fractures occurring without pain.", "synonym": [ [ "painless fractures due to injury", "painless fracture due to injury" ] ], "xref": [ "UMLS:C1837602" ], "is_a": [ "HP:0002659", "HP:0010832" ], "is_obsolete": "", "replace_id": "" }, "HP:0002663": { "name": [ "delayed epiphyseal ossification", "delay epiphyseal ossification" ], "alt_id": [ "HP:0005862" ], "def": "", "synonym": [ [ "delayed epiphyseal maturation", "delay epiphyseal maturation" ], [ "delayed epiphyseal ossification", "delay epiphyseal ossification" ], [ "delayed maturation of end part of long bone", "delay maturation of end part of long bone" ], [ "delayed opacification of the epiphyses", "delay opacification of the epiphysis" ], [ "epiphyseal ossification delay", "epiphyseal ossification delay" ] ], "xref": [ "UMLS:C1865200", "UMLS:C4280565" ], "is_a": [ "HP:0005930", "HP:0010656" ], "is_obsolete": "", "replace_id": "" }, "HP:0002664": { "name": [ "neoplasm", "neoplasm" ], "alt_id": [ "HP:0003008", "HP:0006741" ], "def": "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).", "synonym": [ [ "abnormal tissue mass", "abnormal tissue mass" ], [ "cancer", "cancer" ], [ "neoplasia", "neoplasia" ], [ "oncological abnormality", "oncological abnormality" ], [ "oncology", "oncology" ], [ "tumor", "tumor" ], [ "tumour", "tumour" ] ], "xref": [ "MSH:D009369", "NCIT:C3262", "SNOMEDCT_US:108369006", "SNOMEDCT_US:363346000", "UMLS:C0006826", "UMLS:C0027651" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0002665": { "name": [ "lymphoma", "lymphoma" ], "alt_id": [], "def": "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.", "synonym": [ [ "cancer of lymphatic system", "cancer of lymphatic system" ] ], "xref": [ "MSH:D008223", "NCIT:C7065", "SNOMEDCT_US:115244002", "SNOMEDCT_US:118600007", "SNOMEDCT_US:188676008", "SNOMEDCT_US:21964009", "UMLS:C0024299" ], "is_a": [ "HP:0004377" ], "is_obsolete": "", "replace_id": "" }, "HP:0002666": { "name": [ "pheochromocytoma", "pheochromocytoma" ], "alt_id": [], "def": "Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.", "synonym": [ [ "chromaffin tumors", "chromaffin tumor" ], [ "chromaffin tumours", "chromaffin tumour" ] ], "xref": [ "MSH:D010673", "NCIT:C3326", "SNOMEDCT_US:302835009", "SNOMEDCT_US:399343007", "SNOMEDCT_US:85583005", "UMLS:C0031511" ], "is_a": [ "HP:0100634" ], "is_obsolete": "", "replace_id": "" }, "HP:0002667": { "name": [ "nephroblastoma", "nephroblastoma" ], "alt_id": [ "HP:0000115" ], "def": "The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.", "synonym": [ [ "wilm 's tumor", "wilm 's tumor" ], [ "wilm 's tumour", "wilm 's tumour" ], [ "wilms tumor", "wilms tumor" ], [ "wilms tumour", "wilms tumour" ] ], "xref": [ "MSH:D009396", "NCIT:C40407", "SNOMEDCT_US:25081006", "SNOMEDCT_US:302849000", "UMLS:C0027708" ], "is_a": [ "HP:0011794" ], "is_obsolete": "", "replace_id": "" }, "HP:0002668": { "name": [ "paraganglioma", "paraganglioma" ], "alt_id": [ "HP:0002670", "HP:0003004" ], "def": "A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.", "synonym": [ [ "carotid body tumors", "carotid body tumor" ], [ "carotid body tumours", "carotid body tumour" ], [ "paragangliomas", "paragangliomas" ] ], "xref": [ "MSH:D010235", "NCIT:C3308", "SNOMEDCT_US:127027008", "SNOMEDCT_US:253029009", "SNOMEDCT_US:302833002", "SNOMEDCT_US:72787006", "SNOMEDCT_US:803009", "UMLS:C0030421" ], "is_a": [ "HP:0100634" ], "is_obsolete": "", "replace_id": "" }, "HP:0002669": { "name": [ "osteosarcoma", "osteosarcoma" ], "alt_id": [], "def": "A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.", "synonym": [ [ "bone cell cancer", "bone cell cancer" ], [ "osteogenic sarcoma", "osteogenic sarcoma" ] ], "xref": [ "MSH:D012516", "NCIT:C9145", "SNOMEDCT_US:21708004", "SNOMEDCT_US:307576001", "UMLS:C0029463" ], "is_a": [ "HP:0010622", "HP:0100242" ], "is_obsolete": "", "replace_id": "" }, "HP:0002671": { "name": [ "basal cell carcinoma", "basal cell carcinoma" ], "alt_id": [], "def": "The presence of a basal cell carcinoma of the skin.", "synonym": [ [ "basal cell carcinomas", "basal cell carcinoma" ], [ "basal cell epithelioma", "basal cell epithelioma" ], [ "basal cell nevus", "basal cell nevus" ], [ "basalioma", "basalioma" ] ], "xref": [ "MSH:D002280", "NCIT:C2921", "SNOMEDCT_US:1338007", "SNOMEDCT_US:254701007", "SNOMEDCT_US:275265005", "UMLS:C0007117", "UMLS:C1862314" ], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0002672": { "name": [ "gastrointestinal carcinoma", "gastrointestinal carcinoma" ], "alt_id": [], "def": "", "synonym": [ [ "gi carcinoma", "gi carcinoma" ] ], "xref": [ "UMLS:C0151544" ], "is_a": [ "HP:0006749" ], "is_obsolete": "", "replace_id": "" }, "HP:0002673": { "name": [ "coxa valga", "coxa valga" ], "alt_id": [], "def": "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).", "synonym": [ [ "coxa valga deformity", "coxa valga deformity" ] ], "xref": [ "MSH:D060906", "SNOMEDCT_US:299236004", "UMLS:C0239137", "UMLS:C3549698" ], "is_a": [ "HP:0003367" ], "is_obsolete": "", "replace_id": "" }, "HP:0002676": { "name": [ "cloverleaf skull", "cloverleaf skull" ], "alt_id": [ "HP:0004477", "HP:0005459" ], "def": "Trilobar skull configuration when viewed from the front or behind.", "synonym": [ [ "cloverleaf cranium shape", "cloverleaf cranium shape" ], [ "cloverleaf skull shape", "cloverleaf skull shape" ], [ "kleeblattschaedel", "kleeblattschaedel" ], [ "trilobar cranium shape", "trilobar cranium shape" ], [ "trilobar skull shape", "trilobar skull shape" ] ], "xref": [ "UMLS:C1860050", "UMLS:C4280564" ], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0002677": { "name": [ "small foramen magnum", "small foramen magnum" ], "alt_id": [ "HP:0005468" ], "def": "An abnormal narrowing of the foramen magnum.", "synonym": [ [ "foramen magnum stenosis", "foramen magnum stenosis" ], [ "hypoplasia of foramen magnum", "hypoplasia of foramen magnum" ], [ "little foramen magnum", "little foramen magnum" ], [ "narrow foramen magnum", "narrow foramen magnum" ], [ "stenosis of foramen magnum", "stenosis of foramen magnum" ] ], "xref": [ "SNOMEDCT_US:444879009", "UMLS:C1535953", "UMLS:C1861217", "UMLS:C4072838" ], "is_a": [ "HP:0002699" ], "is_obsolete": "", "replace_id": "" }, "HP:0002678": { "name": [ "skull asymmetry", "skull asymmetry" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of skull shape", "abnormality of skull shape" ], [ "asymmetry of skull", "asymmetry of skull" ], [ "malformation of skull shape", "malformation of skull shape" ], [ "skull asymmetry", "skull asymmetry" ], [ "unequal skull shape", "unequal skull shape" ], [ "uneven skull shape", "uneven skull shape" ] ], "xref": [ "SNOMEDCT_US:248372000", "UMLS:C0424690", "UMLS:C4280562", "UMLS:C4280563" ], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0002679": { "name": [ "abnormal sella turcica morphology", "abnormal sella turcica morphology" ], "alt_id": [], "def": "Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull.", "synonym": [ [ "abnormality of the hypophysial fossa", "abnormality of the hypophysial fossa" ], [ "abnormality of the pituitary fossa", "abnormality of the pituitary fossa" ], [ "abnormality of the sella turcica", "abnormality of the sella turcica" ], [ "anomaly of the hypophysial fossa", "anomaly of the hypophysial fossa" ], [ "anomaly of the pituitary fossa", "anomaly of the pituitary fossa" ], [ "anomaly of the sella turcica", "anomaly of the sella turcica" ] ], "xref": [ "UMLS:C4021754", "UMLS:C4072839" ], "is_a": [ "HP:0000929" ], "is_obsolete": "", "replace_id": "" }, "HP:0002680": { "name": [ "j - shaped sella turcica", "j - shaped sella turcica" ], "alt_id": [], "def": "A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.", "synonym": [ [ "hour glass shaped hypophysial fossa", "hour glass shape hypophysial fossa" ], [ "hour glass shaped pituitary fossa", "hour glass shape pituitary fossa" ], [ "hour glass shaped sella turcica", "hour glass shape sella turcica" ], [ "j - shaped hypophysial fossa", "j - shape hypophysial fossa" ], [ "j - shaped pituitary fossa", "j - shape pituitary fossa" ], [ "j - shaped sella", "j - shape sella" ], [ "omega shaped hypophysial fossa", "omega shape hypophysial fossa" ], [ "omega shaped pituitary fossa", "omega shape pituitary fossa" ], [ "omega shaped sella turcica", "omega shape sella turcica" ] ], "xref": [ "UMLS:C1854718", "UMLS:C4072841", "UMLS:C4072842" ], "is_a": [ "HP:0002681" ], "is_obsolete": "", "replace_id": "" }, "HP:0002681": { "name": [ "deformed sella turcica", "deform sella turcica" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal shape of hypophysial fossa", "abnormal shape of hypophysial fossa" ], [ "abnormal shape of pituitary fossa", "abnormal shape of pituitary fossa" ], [ "abnormal shape of sella turcica", "abnormal shape of sella turcica" ], [ "deformity of hypophysial fossa", "deformity of hypophysial fossa" ], [ "deformity of pituitary fossa", "deformity of pituitary fossa" ], [ "malformation of hypophysial fossa", "malformation of hypophysial fossa" ], [ "malformation of pituitary fossa", "malformation of pituitary fossa" ], [ "malformation of sella turcica", "malformation of sella turcica" ] ], "xref": [ "UMLS:C1846437" ], "is_a": [ "HP:0002679" ], "is_obsolete": "", "replace_id": "" }, "HP:0002682": { "name": [ "broad skull", "broad skull" ], "alt_id": [], "def": "Increased width of the skull.", "synonym": [ [ "broad cranium", "broad cranium" ], [ "broad skull", "broad skull" ], [ "increased width of cranium", "increase width of cranium" ], [ "increased width of skull", "increase width of skull" ], [ "wide cranium", "wide cranium" ], [ "wide skull", "wide skull" ] ], "xref": [ "SNOMEDCT_US:248374004", "UMLS:C0424693" ], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0002683": { "name": [ "abnormality of the calvaria", "abnormality of the calvaria" ], "alt_id": [], "def": "Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone.", "synonym": [ [ "abnormality of calvarium", "abnormality of calvarium" ], [ "abnormality of cranial vault", "abnormality of cranial vault" ], [ "abnormality of cranium", "abnormality of cranium" ], [ "abnormality of the skull cap", "abnormality of the skull cap" ], [ "abnormality of the skullcap", "abnormality of the skullcap" ] ], "xref": [ "UMLS:C4025691", "UMLS:C4280561" ], "is_a": [ "HP:0000929" ], "is_obsolete": "", "replace_id": "" }, "HP:0002684": { "name": [ "thickened calvaria", "thicken calvaria" ], "alt_id": [], "def": "The presence of an abnormally thick calvaria.", "synonym": [ [ "calvarial thickening", "calvarial thickening" ], [ "calvarium thickened", "calvarium thicken" ], [ "increased calvarial thickness", "increase calvarial thickness" ], [ "increased thickness of calvaria", "increased thickness of calvaria" ], [ "increased thickness of calvarium", "increased thickness of calvarium" ], [ "increased thickness of cranial vault", "increased thickness of cranial vault" ], [ "increased thickness of cranium", "increased thickness of cranium" ], [ "increased thickness of skull cap", "increased thickness of skull cap" ], [ "thick calvaria", "thick calvaria" ], [ "thick calvarium", "thick calvarium" ], [ "thickened calvaria", "thicken calvaria" ], [ "thickened calvarium", "thicken calvarium" ], [ "thickened cranial vault", "thicken cranial vault" ], [ "thickened cranium", "thicken cranium" ], [ "thickened skull cap", "thicken skull cap" ], [ "thickening of the calvaria", "thickening of the calvaria" ] ], "xref": [ "UMLS:C1858452", "UMLS:C4280560" ], "is_a": [ "HP:0002683" ], "is_obsolete": "", "replace_id": "" }, "HP:0002686": { "name": [ "prenatal maternal abnormality", "prenatal maternal abnormality" ], "alt_id": [], "def": "", "synonym": [ [ "maternal health problem", "maternal health problem" ] ], "xref": [ "UMLS:C4025690" ], "is_a": [ "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0002687": { "name": [ "abnormality of frontal sinus", "abnormality of frontal sinus" ], "alt_id": [], "def": "An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone.", "synonym": [ [ "abnormality of sinus frontalis", "abnormality of sinus frontalis" ], [ "abnormality of the forehead sinus", "abnormality of the forehead sinus" ] ], "xref": [ "UMLS:C4025689" ], "is_a": [ "HP:0000245" ], "is_obsolete": "", "replace_id": "" }, "HP:0002688": { "name": [ "absent frontal sinuses", "absent frontal sinus" ], "alt_id": [ "HP:0005452", "HP:0005475" ], "def": "Aplasia of frontal sinus.", "synonym": [ [ "absence of frontal sinuses", "absence of frontal sinus" ], [ "absent frontal sinus", "absent frontal sinus" ], [ "aplasia of frontal sinus", "aplasia of frontal sinus" ], [ "aplasia sinus frontalis", "aplasia sinus frontalis" ], [ "missing frontal sinus", "miss frontal sinus" ] ], "xref": [ "UMLS:C1855669", "UMLS:C4280559" ], "is_a": [ "HP:0009119" ], "is_obsolete": "", "replace_id": "" }, "HP:0002689": { "name": [ "absent paranasal sinuses", "absent paranasal sinus" ], "alt_id": [], "def": "Aplasia of the paranasal sinuses.", "synonym": [ [ "absence of paranasal sinuses", "absence of paranasal sinus" ], [ "aplasia of paranasal sinuses", "aplasia of paranasal sinus" ], [ "missing paranasal sinuses", "miss paranasal sinus" ], [ "missing sinuses", "miss sinus" ] ], "xref": [ "UMLS:C1857131", "UMLS:C3804986", "UMLS:C4072844" ], "is_a": [ "HP:0005453" ], "is_obsolete": "", "replace_id": "" }, "HP:0002690": { "name": [ "large sella turcica", "large sella turcica" ], "alt_id": [ "HP:0005444" ], "def": "An abnormal enlargement of the sella turcica.", "synonym": [ [ "big sella turcica", "big sella turcica" ], [ "enlarged sella turcica", "enlarge sella turcica" ], [ "hyperplasia of hypophysial fossa", "hyperplasia of hypophysial fossa" ], [ "hyperplasia of pituitary fossa", "hyperplasia of pituitary fossa" ], [ "hyperplasia of sella turcica", "hyperplasia of sella turcica" ], [ "large hypophysial fossa", "large hypophysial fossa" ], [ "large pituitary fossa", "large pituitary fossa" ], [ "prominent sella turcica", "prominent sella turcica" ] ], "xref": [ "UMLS:C1843677", "UMLS:C4072845", "UMLS:C4072846" ], "is_a": [ "HP:0002679" ], "is_obsolete": "", "replace_id": "" }, "HP:0002691": { "name": [ "platybasia", "platybasia" ], "alt_id": [], "def": "A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.", "synonym": [ [ "flattening of the skull base", "flattening of the skull base" ], [ "increased basal angle of skull base", "increase basal angle of skull base" ], [ "obtuse basal angle of skull base", "obtuse basal angle of skull base" ] ], "xref": [ "MSH:D010985", "SNOMEDCT_US:86587003", "UMLS:C0032209" ], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0002692": { "name": [ "hypoplastic facial bones", "hypoplastic facial bone" ], "alt_id": [], "def": "", "synonym": [ [ "decreased size of facial bones", "decreased size of facial bone" ], [ "decreased size of facial skeleton", "decreased size of facial skeleton" ], [ "flattening of facial bones", "flattening of facial bone" ], [ "flattening of facial skeleton", "flattening of facial skeleton" ], [ "hypoplasia of facial skeleton", "hypoplasia of facial skeleton" ], [ "hypotrophic facial bones", "hypotrophic facial bone" ], [ "hypotrophic facial skeleton", "hypotrophic facial skeleton" ], [ "small facial bones", "small facial bone" ], [ "small facial skeleton", "small facial skeleton" ], [ "underdevelopment of facial bones", "underdevelopment of facial bone" ], [ "underdevelopment of facial skeleton", "underdevelopment of facial skeleton" ] ], "xref": [ "UMLS:C1846438", "UMLS:C4229090", "UMLS:C4280268", "UMLS:C4280557", "UMLS:C4280558" ], "is_a": [ "HP:0011821" ], "is_obsolete": "", "replace_id": "" }, "HP:0002693": { "name": [ "abnormality of the skull base", "abnormality of the skull base" ], "alt_id": [], "def": "An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.", "synonym": [ [ "abnormality of cranial base", "abnormality of cranial base" ], [ "abnormality of the skull base", "abnormality of the skull base" ] ], "xref": [ "UMLS:C4025688" ], "is_a": [ "HP:0000929" ], "is_obsolete": "", "replace_id": "" }, "HP:0002694": { "name": [ "sclerosis of skull base", "sclerosis of skull base" ], "alt_id": [ "HP:0005757" ], "def": "Increased bone density of the skull base without significant changes in bony contour.", "synonym": [ [ "dense bone of skull base", "dense bone of skull base" ], [ "hypercalcification of skull base", "hypercalcification of skull base" ], [ "hypermineralization of skull base", "hypermineralization of skull base" ], [ "hyperossification of skull base", "hyperossification of skull base" ], [ "hyperostosis of skull base", "hyperostosis of skull base" ], [ "marked sclerosis of skull base", "marked sclerosis of skull base" ], [ "sclerosis of cranial base", "sclerosis of cranial base" ], [ "sclerosis of the skull base", "sclerosis of the skull base" ], [ "sclerotic skull base", "sclerotic skull base" ] ], "xref": [ "UMLS:C1851714", "UMLS:C4072847", "UMLS:C4072848" ], "is_a": [ "HP:0002693", "HP:0011001" ], "is_obsolete": "", "replace_id": "" }, "HP:0002695": { "name": [ "symmetrical , oval parietal bone defects", "symmetrical , oval parietal bone defect" ], "alt_id": [], "def": "", "synonym": [ [ "symmetrical , oval defects in the parietal bone", "symmetrical , oval defect in the parietal bone" ] ], "xref": [ "UMLS:C1865045" ], "is_a": [ "HP:0002696" ], "is_obsolete": "", "replace_id": "" }, "HP:0002696": { "name": [ "abnormal parietal bone morphology", "abnormal parietal bone morphology" ], "alt_id": [], "def": "Any abnormality of the parietal bone of the skull.", "synonym": [ [ "abnormality of the parietal bone", "abnormality of the parietal bone" ], [ "abnormality of the parietal bone of skull", "abnormality of the parietal bone of skull" ] ], "xref": [ "UMLS:C4021834" ], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0002697": { "name": [ "parietal foramina", "parietal foramen" ], "alt_id": [], "def": "The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.", "synonym": [ [ "holes in parietal bones", "hole in parietal bone" ], [ "openings in parietal bones", "opening in parietal bone" ], [ "persistent foramina of the parietal bones", "persistent foramen of the parietal bone" ] ], "xref": [ "SNOMEDCT_US:11240000", "SNOMEDCT_US:29307005", "UMLS:C0222706", "UMLS:C4280556" ], "is_a": [ "HP:0002696" ], "is_obsolete": "", "replace_id": "" }, "HP:0002699": { "name": [ "abnormal foramen magnum morphology", "abnormal foramen magnum morphology" ], "alt_id": [], "def": "Any abnormality of the foramen magnum.", "synonym": [ [ "abnormality of the foramen magnum", "abnormality of the foramen magnum" ] ], "xref": [ "UMLS:C4025687" ], "is_a": [ "HP:0000929" ], "is_obsolete": "", "replace_id": "" }, "HP:0002700": { "name": [ "large foramen magnum", "large foramen magnum" ], "alt_id": [], "def": "An abnormal increase in the size of the foramen magnum.", "synonym": [ [ "big foramen magnum", "big foramen magnum" ], [ "dilation of foramen magnum", "dilation of foramen magnum" ], [ "enlarged foramen magnum", "enlarge foramen magnum" ], [ "hyperplasia of foramen magnum", "hyperplasia of foramen magnum" ], [ "increased circumference of foramen magnum", "increase circumference of foramen magnum" ], [ "increased diameter of foramen magnum", "increase diameter of foramen magnum" ], [ "wide foramen magnum", "wide foramen magnum" ] ], "xref": [ "UMLS:C1844508", "UMLS:C4073291", "UMLS:C4280554", "UMLS:C4280555" ], "is_a": [ "HP:0002699" ], "is_obsolete": "", "replace_id": "" }, "HP:0002703": { "name": [ "abnormality of skull ossification", "abnormality of skull ossification" ], "alt_id": [], "def": "An abnormality of the process of ossification of the skull.", "synonym": [ [ "abnormality of bone calcification of calvarium", "abnormality of bone calcification of calvarium" ], [ "abnormality of bone calcification of cranium", "abnormality of bone calcification of cranium" ], [ "abnormality of bone calcification of skull", "abnormality of bone calcification of skull" ], [ "abnormality of bone formation of calvarium", "abnormality of bone formation of calvarium" ], [ "abnormality of bone formation of cranium", "abnormality of bone formation of cranium" ], [ "abnormality of bone mineralization of calvarium", "abnormality of bone mineralization of calvarium" ], [ "abnormality of bone mineralization of cranium", "abnormality of bone mineralization of cranium" ], [ "abnormality of bone mineralization of skull", "abnormality of bone mineralization of skull" ], [ "abnormality of ossification of calvarium", "abnormality of ossification of calvarium" ], [ "abnormality of ossification of cranium", "abnormality of ossification of cranium" ], [ "abnormality of skull bone formation", "abnormality of skull bone formation" ] ], "xref": [ "UMLS:C4025686", "UMLS:C4280550", "UMLS:C4280551", "UMLS:C4280552", "UMLS:C4280553" ], "is_a": [ "HP:0000929" ], "is_obsolete": "", "replace_id": "" }, "HP:0002705": { "name": [ "high , narrow palate", "high , narrow palate" ], "alt_id": [], "def": "The presence of a high and narrow palate.", "synonym": [ [ "gothic palate", "gothic palate" ], [ "high narrow palate", "high narrow palate" ], [ "high vaulted palate", "high vault palate" ], [ "high , narrow palate", "high , narrow palate" ], [ "narrow and high arched palate", "narrow and high arch palate" ], [ "narrow , high - arched palate", "narrow , high - arched palate" ], [ "narrow , high - arched roof of mouth", "narrow , high - arch roof of mouth" ], [ "narrow , highly arched palate", "narrow , highly arched palate" ], [ "narrow , highly arched roof of mouth", "narrow , highly arched roof of mouth" ] ], "xref": [ "UMLS:C1837404" ], "is_a": [ "HP:0000189", "HP:0000218" ], "is_obsolete": "", "replace_id": "" }, "HP:0002707": { "name": [ "palate telangiectasia", "palate telangiectasia" ], "alt_id": [ "HP:0000229" ], "def": "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.", "synonym": [ [ "palatal angioectasia", "palatal angioectasia" ], [ "palatal spider veins", "palatal spider vein" ], [ "palatal telangiectasia", "palatal telangiectasia" ], [ "palate telangiectases", "palate telangiectases" ], [ "palate teleangiectases", "palate teleangiectases" ], [ "spider veins of the roof of the mouth", "spider vein of the roof of the mouth" ], [ "telangiectasia of the roof of the mouth", "telangiectasia of the roof of the mouth" ] ], "xref": [ "UMLS:C1857699", "UMLS:C4280267" ], "is_a": [ "HP:0000174", "HP:0000228" ], "is_obsolete": "", "replace_id": "" }, "HP:0002708": { "name": [ "prominent median palatal raphe", "prominent median palatal raphe" ], "alt_id": [], "def": "Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.", "synonym": [ [ "prominent central palatal ridge", "prominent central palatal ridge" ], [ "prominent central ridge on roof of the mouth", "prominent central ridge on roof of the mouth" ], [ "prominent medial palatal suture", "prominent medial palatal suture" ] ], "xref": [ "UMLS:C1845108" ], "is_a": [ "HP:0000174" ], "is_obsolete": "", "replace_id": "" }, "HP:0002710": { "name": [ "commissural lip pit", "commissural lip pit" ], "alt_id": [], "def": "A depression located at an oral commissure.", "synonym": [ [ "commissural labial pits", "commissural labial pit" ], [ "commissural pit", "commissural pit" ], [ "lip pits at corners of the mouth", "lip pit at corner of the mouth" ], [ "pits at the corners of the lips", "pit at the corner of the lip" ] ], "xref": [ "UMLS:C0399605" ], "is_a": [ "HP:0100267" ], "is_obsolete": "", "replace_id": "" }, "HP:0002711": { "name": [ "exaggerated median tongue furrow", "exaggerated median tongue furrow" ], "alt_id": [], "def": "Increased depth of the median tongue furrow.", "synonym": [ [ "deep central lingual furrow", "deep central lingual furrow" ], [ "deep central lingual groove", "deep central lingual groove" ], [ "deep central tongue furrow", "deep central tongue furrow" ], [ "deep central tongue groove", "deep central tongue groove" ], [ "deep median lingual furrow", "deep median lingual furrow" ], [ "deep median lingual groove", "deep median lingual groove" ], [ "deep median tongue furrow", "deep median tongue furrow" ], [ "deep median tongue groove", "deep median tongue groove" ], [ "exaggerated median lingual furrow", "exaggerated median lingual furrow" ] ], "xref": [ "UMLS:C1845109" ], "is_a": [ "HP:0000221" ], "is_obsolete": "", "replace_id": "" }, "HP:0002714": { "name": [ "downturned corners of mouth", "downturned corner of mouth" ], "alt_id": [ "HP:0000192" ], "def": "A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.", "synonym": [ [ "downturned corners of mouth", "downturned corner of mouth" ], [ "downturned corners of the mouth", "downturned corner of the mouth" ], [ "downturned mouth", "downturned mouth" ], [ "downturned oral commisures", "downturned oral commisures" ] ], "xref": [ "UMLS:C1866195" ], "is_a": [ "HP:0011338" ], "is_obsolete": "", "replace_id": "" }, "HP:0002715": { "name": [ "abnormality of the immune system", "abnormality of the immune system" ], "alt_id": [ "HP:0003257", "HP:0003346", "HP:0010986" ], "def": "An abnormality of the immune system.", "synonym": [ [ "abnormality of the immune system", "abnormality of the immune system" ], [ "immunological abnormality", "immunological abnormality" ] ], "xref": [ "UMLS:C4021753" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0002716": { "name": [ "lymphadenopathy", "lymphadenopathy" ], "alt_id": [ "HP:0002735" ], "def": "Enlargment (swelling) of a lymph node.", "synonym": [ [ "lymph node hyperplasia", "lymph node hyperplasia" ], [ "swollen lymph nodes", "swollen lymph node" ] ], "xref": [ "MSH:D000072281", "SNOMEDCT_US:30746006", "UMLS:C0497156" ], "is_a": [ "HP:0002733" ], "is_obsolete": "", "replace_id": "" }, "HP:0002717": { "name": [ "adrenal overactivity", "adrenal overactivity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025685" ], "is_a": [ "HP:0011733" ], "is_obsolete": "", "replace_id": "" }, "HP:0002718": { "name": [ "recurrent bacterial infections", "recurrent bacterial infection" ], "alt_id": [ "HP:0005355", "HP:0005361", "HP:0005367", "HP:0005391", "HP:0005393", "HP:0005410" ], "def": "Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.", "synonym": [ [ "bacterial infections , recurrent", "bacterial infection , recurrent" ], [ "frequent bacterial infections", "frequent bacterial infection" ], [ "frequent pyogenic infections", "frequent pyogenic infection" ], [ "increased susceptibility to bacterial infections", "increase susceptibility to bacterial infection" ], [ "prone to bacterial infection", "prone to bacterial infection" ], [ "recurrent bacterial infections", "recurrent bacterial infection" ], [ "recurrent major bacterial infections", "recurrent major bacterial infection" ], [ "recurrent pyogenic infections", "recurrent pyogenic infection" ], [ "susceptibility to pyogenic infection", "susceptibility to pyogenic infection" ] ], "xref": [ "SNOMEDCT_US:428875002", "UMLS:C1844383", "UMLS:C2748958", "UMLS:C4020846" ], "is_a": [ "HP:0002719" ], "is_obsolete": "", "replace_id": "" }, "HP:0002719": { "name": [ "recurrent infections", "recurrent infection" ], "alt_id": [ "HP:0002957", "HP:0002964", "HP:0005405" ], "def": "Increased susceptibility to infections.", "synonym": [ [ "frequent infections", "frequent infection" ], [ "frequent , severe infections", "frequent , severe infection" ], [ "increased frequency of infection", "increased frequency of infection" ], [ "infections , recurrent", "infection , recurrent" ], [ "predisposition to infections", "predisposition to infection" ], [ "recurrent infections", "recurrent infection" ], [ "susceptibility to infection", "susceptibility to infection" ] ], "xref": [ "UMLS:C0239998" ], "is_a": [ "HP:0032101" ], "is_obsolete": "", "replace_id": "" }, "HP:0002720": { "name": [ "decreased circulating iga level", "decrease circulate iga level" ], "alt_id": [ "HP:0005358", "HP:0005399", "HP:0005431", "HP:0008350" ], "def": "Decreased levels of immunoglobulin A (IgA).", "synonym": [ [ "decreased iga", "decrease iga" ], [ "decreased immunoglobulin a", "decrease immunoglobulin a" ], [ "gamma - a globulin deficiency", "gamma - a globulin deficiency" ], [ "iga deficiency", "iga deficiency" ], [ "low levels of immunoglobulin a", "low level of immunoglobulin a" ], [ "reduced iga levels", "reduce iga level" ] ], "xref": [ "MSH:D017098", "SNOMEDCT_US:29260007", "UMLS:C0162538" ], "is_a": [ "HP:0004313", "HP:0410240" ], "is_obsolete": "", "replace_id": "" }, "HP:0002721": { "name": [ "immunodeficiency", "immunodeficiency" ], "alt_id": [ "HP:0005362", "HP:0005371" ], "def": "Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.", "synonym": [ [ "decreased immune function", "decrease immune function" ], [ "immune deficiency", "immune deficiency" ] ], "xref": [ "MSH:D007153", "SNOMEDCT_US:234532001", "UMLS:C0021051" ], "is_a": [ "HP:0010978" ], "is_obsolete": "", "replace_id": "" }, "HP:0002722": { "name": [ "recurrent abscess formation", "recurrent abscess formation" ], "alt_id": [], "def": "An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.", "synonym": [], "xref": [ "UMLS:C4025684" ], "is_a": [ "HP:0002719" ], "is_obsolete": "", "replace_id": "" }, "HP:0002723": { "name": [ "absence of bactericidal oxidative respiratory burst in phagocytes", "absence of bactericidal oxidative respiratory burst in phagocyte" ], "alt_id": [], "def": "An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.", "synonym": [], "xref": [ "UMLS:C1844385" ], "is_a": [ "HP:0010977" ], "is_obsolete": "", "replace_id": "" }, "HP:0002724": { "name": [ "recurrent aspergillus infections", "recurrent aspergillus infection" ], "alt_id": [], "def": "An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.", "synonym": [ [ "aspergillus infections , recurrent", "aspergillus infection , recurrent" ] ], "xref": [ "UMLS:C4021752" ], "is_a": [ "HP:0002841" ], "is_obsolete": "", "replace_id": "" }, "HP:0002725": { "name": [ "systemic lupus erythematosus", "systemic lupus erythematosus" ], "alt_id": [], "def": "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.", "synonym": [], "xref": [ "MSH:D008180", "SNOMEDCT_US:55464009", "UMLS:C0024141" ], "is_a": [ "HP:0002960" ], "is_obsolete": "", "replace_id": "" }, "HP:0002726": { "name": [ "recurrent staphylococcus aureus infections", "recurrent staphylococcus aureus infection" ], "alt_id": [], "def": "Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.", "synonym": [ [ "staphylococcus aureus infections , recurrent", "staphylococcus aureus infection , recurrent" ] ], "xref": [ "UMLS:C2673462" ], "is_a": [ "HP:0007499" ], "is_obsolete": "", "replace_id": "" }, "HP:0002728": { "name": [ "chronic mucocutaneous candidiasis", "chronic mucocutaneous candidiasis" ], "alt_id": [ "HP:0005392" ], "def": "Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.", "synonym": [ [ "chronic candidiasis of mucosa , skin and nails", "chronic candidiasis of mucosa , skin and nail" ], [ "mucocutaneous candidiasis", "mucocutaneous candidiasis" ] ], "xref": [ "MSH:D002178", "SNOMEDCT_US:234568006", "UMLS:C0006845" ], "is_a": [ "HP:0011370" ], "is_obsolete": "", "replace_id": "" }, "HP:0002729": { "name": [ "follicular hyperplasia", "follicular hyperplasia" ], "alt_id": [], "def": "Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.", "synonym": [], "xref": [ "UMLS:C4014733" ], "is_a": [ "HP:0002716" ], "is_obsolete": "", "replace_id": "" }, "HP:0002730": { "name": [ "chronic noninfectious lymphadenopathy", "chronic noninfectious lymphadenopathy" ], "alt_id": [], "def": "A chronic form of lymphadenopathy that is not related to infection.", "synonym": [], "xref": [ "UMLS:C1858970" ], "is_a": [ "HP:0002716" ], "is_obsolete": "", "replace_id": "" }, "HP:0002731": { "name": [ "decreased lymphocyte apoptosis", "decrease lymphocyte apoptosis" ], "alt_id": [], "def": "A reduction in the rate of apoptosis in lymphocytes.", "synonym": [ [ "defective lymphocyte apoptosis", "defective lymphocyte apoptosis" ] ], "xref": [ "UMLS:C1858969" ], "is_a": [ "HP:0030886" ], "is_obsolete": "", "replace_id": "" }, "HP:0002732": { "name": [ "lymph node hypoplasia", "lymph node hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the lymph nodes.", "synonym": [ [ "small lymph nodes", "small lymph node" ] ], "xref": [ "UMLS:C1865377", "UMLS:C4025683" ], "is_a": [ "HP:0002733" ], "is_obsolete": "", "replace_id": "" }, "HP:0002733": { "name": [ "abnormality of the lymph nodes", "abnormality of the lymph node" ], "alt_id": [ "HP:0008149" ], "def": "A lymph node abnormality.", "synonym": [ [ "abnormal lymph node histology", "abnormal lymph node histology" ], [ "abnormality of the lymph nodes", "abnormality of the lymph node" ] ], "xref": [ "UMLS:C0149727" ], "is_a": [ "HP:0100763" ], "is_obsolete": "", "replace_id": "" }, "HP:0002737": { "name": [ "thick skull base", "thick skull base" ], "alt_id": [], "def": "", "synonym": [ [ "increased thickness of bone of skull base", "increased thickness of bone of skull base" ], [ "increased thickness of skull base", "increased thickness of skull base" ], [ "thick skull base", "thick skull base" ] ], "xref": [ "UMLS:C1839507" ], "is_a": [ "HP:0002693" ], "is_obsolete": "", "replace_id": "" }, "HP:0002738": { "name": [ "hypoplastic frontal sinuses", "hypoplastic frontal sinus" ], "alt_id": [], "def": "Underdevelopment of frontal sinus.", "synonym": [ [ "decreased pneumatization of frontal sinus", "decreased pneumatization of frontal sinus" ], [ "decreased volume of frontal sinuses", "decreased volume of frontal sinus" ], [ "hypotrophic frontal sinus", "hypotrophic frontal sinus" ], [ "small frontal sinuses", "small frontal sinus" ], [ "underdeveloped frontal sinuses", "underdeveloped frontal sinus" ] ], "xref": [ "UMLS:C1859682", "UMLS:C4280548", "UMLS:C4280549" ], "is_a": [ "HP:0009119" ], "is_obsolete": "", "replace_id": "" }, "HP:0002740": { "name": [ "recurrent e. coli infections", "recurrent e. coli infection" ], "alt_id": [], "def": "Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent.", "synonym": [ [ "e coli infections", "e coli infection" ], [ "e coli infections , recurrent", "e coli infection , recurrent" ] ], "xref": [ "MSH:D004927", "SNOMEDCT_US:71057007", "UMLS:C0014836" ], "is_a": [ "HP:0005420" ], "is_obsolete": "", "replace_id": "" }, "HP:0002741": { "name": [ "recurrent serratia marcescens infections", "recurrent serratia marcescens infection" ], "alt_id": [], "def": "Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.", "synonym": [], "xref": [ "UMLS:C4025682" ], "is_a": [ "HP:0005420" ], "is_obsolete": "", "replace_id": "" }, "HP:0002742": { "name": [ "recurrent klebsiella infections", "recurrent klebsiella infection" ], "alt_id": [], "def": "Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.", "synonym": [ [ "klebsiella infections , recurrent", "klebsiella infection , recurrent" ] ], "xref": [ "UMLS:C4021751" ], "is_a": [ "HP:0005420" ], "is_obsolete": "", "replace_id": "" }, "HP:0002743": { "name": [ "recurrent enteroviral infections", "recurrent enteroviral infection" ], "alt_id": [], "def": "Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.", "synonym": [], "xref": [ "UMLS:C4025681" ], "is_a": [ "HP:0004429" ], "is_obsolete": "", "replace_id": "" }, "HP:0002744": { "name": [ "bilateral cleft lip and palate", "bilateral cleft lip and palate" ], "alt_id": [], "def": "Cleft lip and cleft palate affecting both sides of the face.", "synonym": [ [ "bilateral cleft lip and cleft palate", "bilateral cleft lip and cleft palate" ], [ "right and left cleft lip and palate", "right and leave cleft lip and palate" ] ], "xref": [ "SNOMEDCT_US:1085331000119107", "UMLS:C1398522" ], "is_a": [ "HP:0100336", "HP:0100337" ], "is_obsolete": "", "replace_id": "" }, "HP:0002745": { "name": [ "oral leukoplakia", "oral leukoplakia" ], "alt_id": [], "def": "A thickened white patch on the oral mucosa that cannot be rubbed off.", "synonym": [ [ "leukokeratosis", "leukokeratosis" ], [ "oral idiopathic keratosis", "oral idiopathic keratosis" ], [ "oral idiopathic leukoplakia", "oral idiopathic leukoplakia" ], [ "oral idiopathic white patch", "oral idiopathic white patch" ], [ "oral leucoplakia", "oral leucoplakia" ], [ "oral leukokeratosis", "oral leukokeratosis" ], [ "oral leukoplasia", "oral leukoplasia" ], [ "oral white patch", "oral white patch" ], [ "oral white plaque", "oral white plaque" ] ], "xref": [ "MSH:D007971", "MSH:D007972", "SNOMEDCT_US:414603003", "SNOMEDCT_US:9187004", "UMLS:C0023532", "UMLS:C1704317" ], "is_a": [ "HP:0025125" ], "is_obsolete": "", "replace_id": "" }, "HP:0002747": { "name": [ "respiratory insufficiency due to muscle weakness", "respiratory insufficiency due to muscle weakness" ], "alt_id": [ "HP:0004882", "HP:0004888" ], "def": "", "synonym": [ [ "decreased lung function due to weak breathing muscles", "decrease lung function due to weak breathing muscle" ], [ "decreased respiratory function due to muscle weakness", "decreased respiratory function due to muscle weakness" ], [ "respiratory distress due to muscle weakness", "respiratory distress due to muscle weakness" ], [ "respiratory failure due to muscle weakness", "respiratory failure due to muscle weakness" ], [ "respiratory muscle weakness", "respiratory muscle weakness" ] ], "xref": [ "UMLS:C3806467" ], "is_a": [ "HP:0002093", "HP:0004347" ], "is_obsolete": "", "replace_id": "" }, "HP:0002748": { "name": [ "rickets", "rickets" ], "alt_id": [], "def": "Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.", "synonym": [ [ "weak and soft bones", "weak and soft bone" ] ], "xref": [ "MSH:D012279", "SNOMEDCT_US:41345002", "UMLS:C0035579" ], "is_a": [ "HP:0004349" ], "is_obsolete": "", "replace_id": "" }, "HP:0002749": { "name": [ "osteomalacia", "osteomalacia" ], "alt_id": [], "def": "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.", "synonym": [ [ "softening of the bones", "softening of the bone" ] ], "xref": [ "SNOMEDCT_US:4598005", "UMLS:C0029442" ], "is_a": [ "HP:0004349" ], "is_obsolete": "", "replace_id": "" }, "HP:0002750": { "name": [ "delayed skeletal maturation", "delay skeletal maturation" ], "alt_id": [ "HP:0000928", "HP:0002806" ], "def": "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.", "synonym": [ [ "delayed bone age", "delay bone age" ], [ "delayed bone age before puberty", "delay bone age before puberty" ], [ "delayed bone maturation", "delay bone maturation" ], [ "delayed skeletal development", "delay skeletal development" ], [ "retarded bone age", "retard bone age" ], [ "retarded ossification", "retard ossification" ], [ "skeletal maturation retardation", "skeletal maturation retardation" ] ], "xref": [ "SNOMEDCT_US:123983008", "UMLS:C0541764" ], "is_a": [ "HP:0000927" ], "is_obsolete": "", "replace_id": "" }, "HP:0002751": { "name": [ "kyphoscoliosis", "kyphoscoliosis" ], "alt_id": [ "HP:0003412", "HP:0003424", "HP:0004593", "HP:0005728" ], "def": "An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.", "synonym": [], "xref": [ "SNOMEDCT_US:405773007", "UMLS:C0575158" ], "is_a": [ "HP:0002650", "HP:0002808" ], "is_obsolete": "", "replace_id": "" }, "HP:0002752": { "name": [ "sparse bone trabeculae", "sparse bone trabecula" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1833324" ], "is_a": [ "HP:0100671" ], "is_obsolete": "", "replace_id": "" }, "HP:0002753": { "name": [ "thin bony cortex", "thin bony cortex" ], "alt_id": [ "HP:0003104" ], "def": "Abnormal thinning of the cortical region of bones.", "synonym": [ [ "thin cortices", "thin cortex" ] ], "xref": [ "UMLS:C1833325" ], "is_a": [ "HP:0003103" ], "is_obsolete": "", "replace_id": "" }, "HP:0002754": { "name": [ "osteomyelitis", "osteomyelitis" ], "alt_id": [ "HP:0002755", "HP:0005901" ], "def": "Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.", "synonym": [ [ "bone infection", "bone infection" ] ], "xref": [ "MSH:D010019", "SNOMEDCT_US:111253001", "SNOMEDCT_US:60168000", "UMLS:C0029443", "UMLS:C2242472" ], "is_a": [ "HP:0011843", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0002755": { "name": [ "obsolete osteomyelitis due to immunodeficiency", "obsolete osteomyelitis due to immunodeficiency" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0002754" }, "HP:0002756": { "name": [ "pathologic fracture", "pathologic fracture" ], "alt_id": [ "HP:0005633" ], "def": "A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.", "synonym": [ [ "pathologic fractures", "pathologic fracture" ], [ "spontaneous fracture", "spontaneous fracture" ], [ "spontaneous fractures", "spontaneous fracture" ] ], "xref": [ "MSH:D005598", "SNOMEDCT_US:22640007", "SNOMEDCT_US:268029009", "UMLS:C0016663" ], "is_a": [ "HP:0002659" ], "is_obsolete": "", "replace_id": "" }, "HP:0002757": { "name": [ "recurrent fractures", "recurrent fracture" ], "alt_id": [ "HP:0002660", "HP:0002767", "HP:0002809" ], "def": "The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).", "synonym": [ [ "frequent fractures", "frequent fracture" ], [ "increased fracture rate", "increased fracture rate" ], [ "increased fractures", "increase fracture" ], [ "multiple fractures", "multiple fracture" ], [ "multiple spontaneous fractures", "multiple spontaneous fracture" ], [ "recurrent fractures", "recurrent fracture" ], [ "varying degree of multiple fractures", "vary degree of multiple fracture" ] ], "xref": [ "MSH:D000069076", "SNOMEDCT_US:134291007", "SNOMEDCT_US:5468008", "UMLS:C0016655", "UMLS:C1833752", "UMLS:C3805574", "UMLS:C3806283" ], "is_a": [ "HP:0002659" ], "is_obsolete": "", "replace_id": "" }, "HP:0002758": { "name": [ "osteoarthritis", "osteoarthritis" ], "alt_id": [ "HP:0001379", "HP:0002824", "HP:0005762" ], "def": "Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.", "synonym": [ [ "degenerative joint disease", "degenerative joint disease" ] ], "xref": [ "MSH:D010003", "SNOMEDCT_US:225655006", "SNOMEDCT_US:396275006", "UMLS:C0029408" ], "is_a": [ "HP:0001369" ], "is_obsolete": "", "replace_id": "" }, "HP:0002761": { "name": [ "generalized joint laxity", "generalize joint laxity" ], "alt_id": [], "def": "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body.", "synonym": [ [ "generalised joint laxity", "generalise joint laxity" ], [ "hypermobility of all joints", "hypermobility of all joint" ], [ "joint laxity , generalised", "joint laxity , generalise" ], [ "joint laxity , generalized", "joint laxity , generalize" ] ], "xref": [ "UMLS:C1836308" ], "is_a": [ "HP:0001388" ], "is_obsolete": "", "replace_id": "" }, "HP:0002762": { "name": [ "multiple exostoses", "multiple exostosis" ], "alt_id": [], "def": "Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.", "synonym": [], "xref": [ "MSH:D005097", "SNOMEDCT_US:254044004", "UMLS:C0015306" ], "is_a": [ "HP:0100777" ], "is_obsolete": "", "replace_id": "" }, "HP:0002763": { "name": [ "abnormal cartilage morphology", "abnormal cartilage morphology" ], "alt_id": [ "HP:0410007" ], "def": "Any morphological abnormality of cartilage.", "synonym": [ [ "abnormal shape of cartilage", "abnormal shape of cartilage" ], [ "abnormality of cartilage morphology", "abnormality of cartilage morphology" ] ], "xref": [ "UMLS:C4025680" ], "is_a": [ "HP:0011842" ], "is_obsolete": "", "replace_id": "" }, "HP:0002764": { "name": [ "stippled chondral calcification", "stipple chondral calcification" ], "alt_id": [], "def": "Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints).", "synonym": [], "xref": [ "UMLS:C4025679" ], "is_a": [ "HP:0002832", "HP:0100593" ], "is_obsolete": "", "replace_id": "" }, "HP:0002766": { "name": [ "relatively short spine", "relatively short spine" ], "alt_id": [], "def": "", "synonym": [ [ "relatively short spine", "relatively short spine" ] ], "xref": [ "UMLS:C3277114" ], "is_a": [ "HP:0008518" ], "is_obsolete": "", "replace_id": "" }, "HP:0002773": { "name": [ "obsolete small vertebral bodies", "obsolete small vertebral body" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0008479" }, "HP:0002777": { "name": [ "tracheal stenosis", "tracheal stenosis" ], "alt_id": [], "def": "", "synonym": [ [ "narrowing of windpipe", "narrowing of windpipe" ] ], "xref": [ "MSH:D014135", "SNOMEDCT_US:11296007", "UMLS:C0040583" ], "is_a": [ "HP:0002778" ], "is_obsolete": "", "replace_id": "" }, "HP:0002778": { "name": [ "abnormal tracheal morphology", "abnormal tracheal morphology" ], "alt_id": [], "def": "A structural anomaly of the trachea.", "synonym": [ [ "abnormal trachea morphology", "abnormal trachea morphology" ], [ "abnormality of the trachea", "abnormality of the trachea" ], [ "tracheal disease", "tracheal disease" ] ], "xref": [ "MSH:D014133", "SNOMEDCT_US:47125007", "UMLS:C0040580", "UMLS:C4025678" ], "is_a": [ "HP:0005607" ], "is_obsolete": "", "replace_id": "" }, "HP:0002779": { "name": [ "tracheomalacia", "tracheomalacia" ], "alt_id": [], "def": "", "synonym": [ [ "floppy windpipe", "floppy windpipe" ] ], "xref": [ "MSH:D055090", "SNOMEDCT_US:95434006", "UMLS:C0948187" ], "is_a": [ "HP:0002778" ], "is_obsolete": "", "replace_id": "" }, "HP:0002780": { "name": [ "bronchomalacia", "bronchomalacia" ], "alt_id": [], "def": "Weakness or softness of the cartilage in the walls of the bronchial tubes.", "synonym": [], "xref": [ "MSH:D055091", "SNOMEDCT_US:54203008", "UMLS:C0264353" ], "is_a": [ "HP:0025426" ], "is_obsolete": "", "replace_id": "" }, "HP:0002781": { "name": [ "upper airway obstruction", "upper airway obstruction" ], "alt_id": [], "def": "Increased resistance to the passage of air in the upper airway.", "synonym": [ [ "upper airway obstruction", "upper airway obstruction" ] ], "xref": [ "UMLS:C0740852" ], "is_a": [ "HP:0006536" ], "is_obsolete": "", "replace_id": "" }, "HP:0002783": { "name": [ "recurrent lower respiratory tract infections", "recurrent low respiratory tract infection" ], "alt_id": [ "HP:0004884", "HP:0005955" ], "def": "An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.", "synonym": [ [ "chronic lung infections", "chronic lung infection" ], [ "lower respiratory tract infections", "low respiratory tract infection" ], [ "recurrent chest infections", "recurrent chest infection" ] ], "xref": [ "SNOMEDCT_US:448739000", "SNOMEDCT_US:50417007", "UMLS:C0149725", "UMLS:C0585953", "UMLS:C3163798" ], "is_a": [ "HP:0002205" ], "is_obsolete": "", "replace_id": "" }, "HP:0002786": { "name": [ "tracheobronchomalacia", "tracheobronchomalacia" ], "alt_id": [], "def": "Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.", "synonym": [], "xref": [ "MSH:D055089", "SNOMEDCT_US:233788001", "UMLS:C0340231" ], "is_a": [ "HP:0002779", "HP:0002780" ], "is_obsolete": "", "replace_id": "" }, "HP:0002787": { "name": [ "tracheal calcification", "tracheal calcification" ], "alt_id": [], "def": "Calcification (abnormal deposits of calcium) in the tracheal tissues.", "synonym": [ [ "calcification of the trachea", "calcification of the trachea" ], [ "tracheal calcifications", "tracheal calcification" ], [ "tracheal ectopic calcification", "tracheal ectopic calcification" ] ], "xref": [ "SNOMEDCT_US:81089005", "UMLS:C0264324" ], "is_a": [ "HP:0002778", "HP:0010766" ], "is_obsolete": "", "replace_id": "" }, "HP:0002788": { "name": [ "recurrent upper respiratory tract infections", "recurrent upper respiratory tract infection" ], "alt_id": [ "HP:0001740", "HP:0002784" ], "def": "An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).", "synonym": [ [ "frequent upper respiratory infections", "frequent upper respiratory infection" ], [ "frequent upper respiratory tract infections", "frequent upper respiratory tract infection" ], [ "recurrent colds", "recurrent cold" ], [ "recurrent upper respiratory and lower respiratory infections", "recurrent upper respiratory and low respiratory infection" ], [ "recurrent upper respiratory infection", "recurrent upper respiratory infection" ], [ "recurrent upper respiratory infections", "recurrent upper respiratory infection" ], [ "recurrent uri", "recurrent uri" ], [ "upper respiratory tract infections", "upper respiratory tract infection" ], [ "upper respiratory tract infections , recurrent", "upper respiratory tract infection , recurrent" ] ], "xref": [ "SNOMEDCT_US:195708003", "UMLS:C0581381" ], "is_a": [ "HP:0001739", "HP:0002205" ], "is_obsolete": "", "replace_id": "" }, "HP:0002789": { "name": [ "tachypnea", "tachypnea" ], "alt_id": [ "HP:0002874", "HP:0004346" ], "def": "Very rapid breathing.", "synonym": [ [ "increased respiratory rate or depth of breathing", "increase respiratory rate or depth of breathe" ], [ "polypnea", "polypnea" ] ], "xref": [ "MSH:D059246", "SNOMEDCT_US:271823003", "UMLS:C0231835" ], "is_a": [ "HP:0002793" ], "is_obsolete": "", "replace_id": "" }, "HP:0002790": { "name": [ "neonatal breathing dysregulation", "neonatal breathing dysregulation" ], "alt_id": [], "def": "", "synonym": [ [ "impaired breathing in newborn", "impaired breathing in newborn" ] ], "xref": [ "UMLS:C3806216" ], "is_a": [ "HP:0005957" ], "is_obsolete": "", "replace_id": "" }, "HP:0002791": { "name": [ "hypoventilation", "hypoventilation" ], "alt_id": [ "HP:0004892" ], "def": "A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).", "synonym": [ [ "alveolar hypoventilation", "alveolar hypoventilation" ], [ "respiratory depression", "respiratory depression" ], [ "slow breathing", "slow breathing" ], [ "under breathing", "under breathe" ] ], "xref": [ "MSH:D007040", "MSH:D012131", "SNOMEDCT_US:15993004", "SNOMEDCT_US:31515003", "SNOMEDCT_US:80954004", "UMLS:C0235063", "UMLS:C3203358" ], "is_a": [ "HP:0002793" ], "is_obsolete": "", "replace_id": "" }, "HP:0002792": { "name": [ "reduced vital capacity", "reduce vital capacity" ], "alt_id": [], "def": "An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.", "synonym": [ [ "decreased vital capacity", "decrease vital capacity" ] ], "xref": [ "SNOMEDCT_US:274715008", "SNOMEDCT_US:607007", "UMLS:C0476408", "UMLS:C0520831" ], "is_a": [ "HP:0030878" ], "is_obsolete": "", "replace_id": "" }, "HP:0002793": { "name": [ "abnormal pattern of respiration", "abnormal pattern of respiration" ], "alt_id": [], "def": "An anomaly of the rhythm or depth of breathing.", "synonym": [ [ "abnormal pattern of respiration", "abnormal pattern of respiration" ], [ "abnormal respiratory patterns", "abnormal respiratory pattern" ], [ "unusual breathing patterns", "unusual breathing pattern" ] ], "xref": [ "UMLS:C1837388" ], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0002795": { "name": [ "abnormal respiratory system physiology", "abnormal respiratory system physiology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal respiration", "abnormal respiration" ], [ "functional respiratory abnormality", "functional respiratory abnormality" ], [ "respiratory problem", "respiratory problem" ] ], "xref": [ "Fyler:4200", "UMLS:C4025677" ], "is_a": [ "HP:0002086" ], "is_obsolete": "", "replace_id": "" }, "HP:0002797": { "name": [ "osteolysis", "osteolysis" ], "alt_id": [ "HP:0010737" ], "def": "Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.", "synonym": [ [ "breakdown of bone", "breakdown of bone" ], [ "increased bone resorption", "increase bone resorption" ], [ "osteolytic defects of bones", "osteolytic defect of bone" ] ], "xref": [ "MSH:D010014", "SNOMEDCT_US:203522001", "SNOMEDCT_US:30425001", "UMLS:C0221204" ], "is_a": [ "HP:0003330" ], "is_obsolete": "", "replace_id": "" }, "HP:0002803": { "name": [ "congenital contracture", "congenital contracture" ], "alt_id": [], "def": "One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.", "synonym": [ [ "congenital contractures", "congenital contracture" ], [ "congenital joint contractures", "congenital joint contracture" ] ], "xref": [ "UMLS:C0332878" ], "is_a": [ "HP:0001371" ], "is_obsolete": "", "replace_id": "" }, "HP:0002804": { "name": [ "arthrogryposis multiplex congenita", "arthrogryposis multiplex congenita" ], "alt_id": [ "HP:0001389", "HP:0001390", "HP:0002759", "HP:0005188", "HP:0005663", "HP:0005809", "HP:0005859" ], "def": "Multiple congenital contractures in different body areas.", "synonym": [ [ "arthrogryposis", "arthrogryposis" ], [ "arthrogryposis multiplex", "arthrogryposis multiplex" ], [ "arthrogryposis , congenital", "arthrogryposis , congenital" ], [ "multiple congenital contractures", "multiple congenital contracture" ] ], "xref": [ "MSH:D001176", "SNOMEDCT_US:111246005", "SNOMEDCT_US:77016009", "UMLS:C0003886" ], "is_a": [ "HP:0002803" ], "is_obsolete": "", "replace_id": "" }, "HP:0002805": { "name": [ "accelerated bone age after puberty", "accelerate bone age after puberty" ], "alt_id": [], "def": "", "synonym": [ [ "accelerated bone age after puberty", "accelerate bone age after puberty" ] ], "xref": [ "UMLS:C1860825" ], "is_a": [ "HP:0005616" ], "is_obsolete": "", "replace_id": "" }, "HP:0002808": { "name": [ "kyphosis", "kyphosis" ], "alt_id": [ "HP:0002769", "HP:0003314" ], "def": "Exaggerated anterior convexity of the thoracic vertebral column.", "synonym": [ [ "gibbus deformity", "gibbus deformity" ], [ "hunched back", "hunch back" ], [ "hyperkyphosis", "hyperkyphosis" ], [ "round back", "round back" ] ], "xref": [ "MSH:D007738", "SNOMEDCT_US:414564002", "UMLS:C0022821", "UMLS:C1845112" ], "is_a": [ "HP:0010674" ], "is_obsolete": "", "replace_id": "" }, "HP:0002810": { "name": [ "dumbbell - shaped metaphyses", "dumbbell - shaped metaphyses" ], "alt_id": [ "HP:0005079" ], "def": "", "synonym": [ [ "dumbbell shaped metaphyses", "dumbbell shape metaphyses" ], [ "dumbbell shaped metaphysis", "dumbbell shape metaphysis" ], [ "dumbbell shaped wide portion of long bone", "dumbbell shape wide portion of long bone" ] ], "xref": [ "UMLS:C3277123" ], "is_a": [ "HP:0000944" ], "is_obsolete": "", "replace_id": "" }, "HP:0002812": { "name": [ "coxa vara", "coxa vara" ], "alt_id": [], "def": "Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.", "synonym": [], "xref": [ "MSH:D060905", "SNOMEDCT_US:74820003", "UMLS:C0239138" ], "is_a": [ "HP:0003367" ], "is_obsolete": "", "replace_id": "" }, "HP:0002813": { "name": [ "abnormality of limb bone morphology", "abnormality of limb bone morphology" ], "alt_id": [], "def": "Any abnormality of bones of the arms or legs.", "synonym": [ [ "abnormal shape of limb bone", "abnormal shape of limb bone" ], [ "arm and / or leg bone differences", "arm and / or leg bone difference" ], [ "limb abnormality", "limb abnormality" ] ], "xref": [ "UMLS:C4082761" ], "is_a": [ "HP:0011844", "HP:0040068" ], "is_obsolete": "", "replace_id": "" }, "HP:0002814": { "name": [ "abnormality of the lower limb", "abnormality of the low limb" ], "alt_id": [], "def": "An abnormality of the leg.", "synonym": [ [ "abnormality of the leg", "abnormality of the leg" ], [ "abnormality of the lower limb", "abnormality of the low limb" ], [ "lower limb deformities", "low limb deformity" ] ], "xref": [ "SNOMEDCT_US:449715001", "UMLS:C1096086" ], "is_a": [ "HP:0040064" ], "is_obsolete": "", "replace_id": "" }, "HP:0002815": { "name": [ "abnormality of the knee", "abnormality of the knee" ], "alt_id": [], "def": "An abnormality of the knee joint or surrounding structures.", "synonym": [ [ "abnormality of the knee", "abnormality of the knee" ] ], "xref": [ "UMLS:C4025676" ], "is_a": [ "HP:0100491" ], "is_obsolete": "", "replace_id": "" }, "HP:0002816": { "name": [ "genu recurvatum", "genu recurvatum" ], "alt_id": [], "def": "An abnormally increased extension of the knee joint, so that the knee can bend backwards.", "synonym": [ [ "back knee", "back knee" ], [ "genu recurvata", "genu recurvata" ], [ "knee hyperextension", "knee hyperextension" ] ], "xref": [ "MEDDRA:10018194 \"Genu recurvatum\"", "UMLS:C0546964" ], "is_a": [ "HP:0010500" ], "is_obsolete": "", "replace_id": "" }, "HP:0002817": { "name": [ "abnormality of the upper limb", "abnormality of the upper limb" ], "alt_id": [ "HP:0003838" ], "def": "An abnormality of the arm.", "synonym": [ [ "abnormality of the arm", "abnormality of the arm" ], [ "abnormality of the upper limb", "abnormality of the upper limb" ] ], "xref": [ "UMLS:C4020900" ], "is_a": [ "HP:0040064" ], "is_obsolete": "", "replace_id": "" }, "HP:0002818": { "name": [ "abnormality of the radius", "abnormality of the radius" ], "alt_id": [], "def": "An abnormality of the radius.", "synonym": [], "xref": [ "UMLS:C4025675" ], "is_a": [ "HP:0040072" ], "is_obsolete": "", "replace_id": "" }, "HP:0002821": { "name": [ "neuropathic arthropathy", "neuropathic arthropathy" ], "alt_id": [], "def": "", "synonym": [ [ "charcot arthropathy", "charcot arthropathy" ], [ "charcot joint", "charcot joint" ] ], "xref": [ "MSH:D001177", "SNOMEDCT_US:359554008", "SNOMEDCT_US:67536000", "UMLS:C0003892" ], "is_a": [ "HP:0003040" ], "is_obsolete": "", "replace_id": "" }, "HP:0002822": { "name": [ "hyperplasia of the femoral trochanters", "hyperplasia of the femoral trochanter" ], "alt_id": [], "def": "", "synonym": [ [ "hyperplastic femoral trochanters", "hyperplastic femoral trochanter" ] ], "xref": [ "UMLS:C3277120" ], "is_a": [ "HP:0003366" ], "is_obsolete": "", "replace_id": "" }, "HP:0002823": { "name": [ "abnormality of femur morphology", "abnormality of femur morphology" ], "alt_id": [ "HP:0001439" ], "def": "Any anomaly of the structure of the femur.", "synonym": [ [ "abnormality of the femora", "abnormality of the femur" ], [ "abnormality of the thighbone", "abnormality of the thighbone" ] ], "xref": [ "UMLS:C4021750" ], "is_a": [ "HP:0040069" ], "is_obsolete": "", "replace_id": "" }, "HP:0002825": { "name": [ "caudal appendage", "caudal appendage" ], "alt_id": [], "def": "The presence of a tail-like skin appendage located adjacent to the sacrum.", "synonym": [ [ "coccygeal tail", "coccygeal tail" ], [ "human tail", "human tail" ] ], "xref": [ "UMLS:C3277117" ], "is_a": [ "HP:0008519" ], "is_obsolete": "", "replace_id": "" }, "HP:0002826": { "name": [ "halberd - shaped pelvis", "halberd - shape pelvis" ], "alt_id": [], "def": "An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).", "synonym": [ [ "halberd - shaped pelvis bone", "halberd - shape pelvis bone" ] ], "xref": [ "UMLS:C3277119" ], "is_a": [ "HP:0040163" ], "is_obsolete": "", "replace_id": "" }, "HP:0002827": { "name": [ "hip dislocation", "hip dislocation" ], "alt_id": [ "HP:0001375" ], "def": "Displacement of the femur from its normal location in the hip joint.", "synonym": [ [ "dislocated hips", "dislocate hip" ], [ "dislocation of hip", "dislocation of hip" ], [ "hip dislocation", "hip dislocation" ] ], "xref": [ "MSH:D006617", "SNOMEDCT_US:157265008", "UMLS:C0019554" ], "is_a": [ "HP:0001384", "HP:0030311" ], "is_obsolete": "", "replace_id": "" }, "HP:0002828": { "name": [ "multiple joint contractures", "multiple joint contracture" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:19393004", "SNOMEDCT_US:202264009", "UMLS:C0158118" ], "is_a": [ "HP:0001371" ], "is_obsolete": "", "replace_id": "" }, "HP:0002829": { "name": [ "arthralgia", "arthralgia" ], "alt_id": [], "def": "Joint pain.", "synonym": [ [ "arthralgias", "arthralgia" ], [ "arthritic pain", "arthritic pain" ], [ "joint pain", "joint pain" ], [ "joint pains", "joint pain" ] ], "xref": [ "MSH:D018771", "SNOMEDCT_US:57676002", "UMLS:C0003862" ], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0002831": { "name": [ "long coccyx", "long coccyx" ], "alt_id": [], "def": "", "synonym": [ [ "long tailbone", "long tailbone" ] ], "xref": [ "UMLS:C3277116" ], "is_a": [ "HP:0008519" ], "is_obsolete": "", "replace_id": "" }, "HP:0002832": { "name": [ "calcific stippling", "calcific stipple" ], "alt_id": [ "HP:0005738" ], "def": "An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs).", "synonym": [ [ "discrete calcific stippling", "discrete calcific stipple" ] ], "xref": [ "UMLS:C1849993" ], "is_a": [ "HP:0010766" ], "is_obsolete": "", "replace_id": "" }, "HP:0002833": { "name": [ "cystic angiomatosis of bone", "cystic angiomatosis of bone" ], "alt_id": [], "def": "Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping.", "synonym": [ [ "lytic cystic lesions in appendicular bones", "lytic cystic lesion in appendicular bone" ] ], "xref": [ "UMLS:C4021749" ], "is_a": [ "HP:0012062" ], "is_obsolete": "", "replace_id": "" }, "HP:0002834": { "name": [ "flared femoral metaphysis", "flared femoral metaphysis" ], "alt_id": [], "def": "", "synonym": [ [ "flared metaphysis of thigh bone", "flared metaphysis of thigh bone" ] ], "xref": [ "UMLS:C4025674" ], "is_a": [ "HP:0006489", "HP:0030307" ], "is_obsolete": "", "replace_id": "" }, "HP:0002835": { "name": [ "aspiration", "aspiration" ], "alt_id": [], "def": "Inspiration of a foreign object into the airway.", "synonym": [ [ "pulmonary aspiration", "pulmonary aspiration" ] ], "xref": [ "SNOMEDCT_US:413585005", "SNOMEDCT_US:68052005", "UMLS:C0700198", "UMLS:C2712334" ], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0002836": { "name": [ "bladder exstrophy", "bladder exstrophy" ], "alt_id": [], "def": "Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.", "synonym": [ [ "ectopia vesicae", "ectopia vesica" ] ], "xref": [ "MSH:D001746", "SNOMEDCT_US:61758007", "UMLS:C0005689" ], "is_a": [ "HP:0025487", "HP:0100548" ], "is_obsolete": "", "replace_id": "" }, "HP:0002837": { "name": [ "recurrent bronchitis", "recurrent bronchitis" ], "alt_id": [ "HP:0002785" ], "def": "An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.", "synonym": [ [ "bronchitis , recurrent", "bronchitis , recurrent" ] ], "xref": [ "UMLS:C0741796" ], "is_a": [ "HP:0002788", "HP:0012387", "HP:0025426" ], "is_obsolete": "", "replace_id": "" }, "HP:0002839": { "name": [ "urinary bladder sphincter dysfunction", "urinary bladder sphincter dysfunction" ], "alt_id": [ "HP:0000018" ], "def": "Abnormal function of a sphincter of the urinary bladder.", "synonym": [ [ "sphincter disturbance", "sphincter disturbance" ], [ "sphincter disturbances", "sphincter disturbance" ] ], "xref": [ "UMLS:C1843663" ], "is_a": [ "HP:0000009" ], "is_obsolete": "", "replace_id": "" }, "HP:0002840": { "name": [ "lymphadenitis", "lymphadenitis" ], "alt_id": [], "def": "Inflammation of a lymph node.", "synonym": [ [ "inflammation of the lymph nodes", "inflammation of the lymph node" ] ], "xref": [ "MSH:D008199", "SNOMEDCT_US:19471005", "UMLS:C0024205" ], "is_a": [ "HP:0002733", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0002841": { "name": [ "recurrent fungal infections", "recurrent fungal infection" ], "alt_id": [ "HP:0005350", "HP:0005380", "HP:0005388" ], "def": "Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.", "synonym": [ [ "recurrent fungal infections", "recurrent fungal infection" ] ], "xref": [ "UMLS:C1844384" ], "is_a": [ "HP:0002719", "HP:0020100" ], "is_obsolete": "", "replace_id": "" }, "HP:0002842": { "name": [ "recurrent burkholderia cepacia infections", "recurrent burkholderia cepacia infection" ], "alt_id": [], "def": "Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.", "synonym": [], "xref": [ "UMLS:C4025673" ], "is_a": [ "HP:0005420" ], "is_obsolete": "", "replace_id": "" }, "HP:0002843": { "name": [ "abnormal t cell morphology", "abnormal t cell morphology" ], "alt_id": [ "HP:0002734", "HP:0030332" ], "def": "An abnormality of T cells.", "synonym": [ [ "abnormal t cells", "abnormal t cell" ], [ "abnormality of t cells", "abnormality of t cell" ], [ "cellular immune defect", "cellular immune defect" ], [ "defective cellular immunity", "defective cellular immunity" ] ], "xref": [ "UMLS:C1855752" ], "is_a": [ "HP:0004332" ], "is_obsolete": "", "replace_id": "" }, "HP:0002845": { "name": [ "obsolete increased proportion of peripheral cd3+ t cells", "obsolete increase proportion of peripheral cd3+ t cell" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0002851" }, "HP:0002846": { "name": [ "abnormal b cell morphology", "abnormal b cell morphology" ], "alt_id": [], "def": "A structural abnormality of B cells.", "synonym": [ [ "abnormal b cells", "abnormal b cell" ], [ "abnormality of b cells", "abnormality of b cell" ] ], "xref": [ "UMLS:C4021748" ], "is_a": [ "HP:0004332" ], "is_obsolete": "", "replace_id": "" }, "HP:0002847": { "name": [ "impaired memory b cell generation", "impaired memory b cell generation" ], "alt_id": [], "def": "Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.", "synonym": [], "xref": [ "UMLS:C4025672" ], "is_a": [ "HP:0005372" ], "is_obsolete": "", "replace_id": "" }, "HP:0002848": { "name": [ "decreased specific anti - polysaccharide antibody level", "decrease specific anti - polysaccharide antibody level" ], "alt_id": [], "def": "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.", "synonym": [ [ "depressed antibody response to polysaccharide antigens", "depress antibody response to polysaccharide antigen" ], [ "low specific anti - polysaccharide antibody titer", "low specific anti - polysaccharide antibody titer" ], [ "specific anti - polysaccharide antibody deficiency", "specific anti - polysaccharide antibody deficiency" ] ], "xref": [ "UMLS:C4021747" ], "is_a": [ "HP:0012475" ], "is_obsolete": "", "replace_id": "" }, "HP:0002849": { "name": [ "absence of lymph node germinal center", "absence of lymph node germinal center" ], "alt_id": [], "def": "Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.", "synonym": [ [ "absence of lymph node germinal centre", "absence of lymph node germinal centre" ], [ "lymph nodes lack germinal center", "lymph node lack germinal center" ], [ "lymph nodes lack germinal centre", "lymph node lack germinal centre" ], [ "lymphoid germinal center defect", "lymphoid germinal center defect" ], [ "lymphoid germinal centre defect", "lymphoid germinal centre defect" ] ], "xref": [ "UMLS:C1847383" ], "is_a": [ "HP:0002733" ], "is_obsolete": "", "replace_id": "" }, "HP:0002850": { "name": [ "decreased circulating total igm", "decrease circulate total igm" ], "alt_id": [ "HP:0003147", "HP:0005385" ], "def": "An abnormally decreased level of immunoglobulin M (IgM) in blood.", "synonym": [ [ "decreased igm", "decrease igm" ], [ "decreased igm level", "decrease igm level" ], [ "igm deficiency", "igm deficiency" ], [ "reduced igm levels", "reduce igm level" ] ], "xref": [ "UMLS:C0239989" ], "is_a": [ "HP:0004313", "HP:0410243" ], "is_obsolete": "", "replace_id": "" }, "HP:0002851": { "name": [ "elevated proportion of cd4 - negative , cd8 - negative , alpha - beta regulatory t cells", "elevate proportion of cd4 - negative , cd8 - negative , alpha - beta regulatory t cell" ], "alt_id": [ "HP:0002845" ], "def": "An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.", "synonym": [ [ "increased number of cd4 - / cd8 - t cells expressing alpha / beta t - cell receptors", "increased number of cd4 - / cd8 - t cell express alpha / beta t - cell receptor" ] ], "xref": [ "UMLS:C1858973" ], "is_a": [ "HP:0031399" ], "is_obsolete": "", "replace_id": "" }, "HP:0002853": { "name": [ "increased proportion of hla dr+ t cells", "increase proportion of hla dr+ t cell" ], "alt_id": [], "def": "An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.", "synonym": [], "xref": [ "UMLS:C1858974" ], "is_a": [ "HP:0025540" ], "is_obsolete": "", "replace_id": "" }, "HP:0002857": { "name": [ "genu valgum", "genu valgum" ], "alt_id": [ "HP:0004999" ], "def": "The legs angle inward, such that the knees are close together and the ankles far apart.", "synonym": [ [ "genu valga", "genu valga" ], [ "genu valgus", "genu valgus" ], [ "genua valga", "genu valga" ], [ "knee joint valgus deformity", "knee joint valgus deformity" ], [ "knock knees", "knock knee" ] ], "xref": [ "MEDDRA:10023480 \"Knock-knee\"", "MSH:D056304", "SNOMEDCT_US:299330008", "UMLS:C0576093" ], "is_a": [ "HP:0002815", "HP:0002979" ], "is_obsolete": "", "replace_id": "" }, "HP:0002858": { "name": [ "meningioma", "meningioma" ], "alt_id": [ "HP:0006754" ], "def": "The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.", "synonym": [ [ "noncancerous growth of membranes covering brain", "noncancerous growth of membrane cover brain" ] ], "xref": [ "MSH:D008579", "NCIT:C3230", "UMLS:C0025286" ], "is_a": [ "HP:0100835" ], "is_obsolete": "", "replace_id": "" }, "HP:0002859": { "name": [ "rhabdomyosarcoma", "rhabdomyosarcoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D012208", "NCIT:C3359", "SNOMEDCT_US:302847003", "SNOMEDCT_US:30924005", "UMLS:C0035412" ], "is_a": [ "HP:0009728", "HP:0030448" ], "is_obsolete": "", "replace_id": "" }, "HP:0002860": { "name": [ "squamous cell carcinoma", "squamous cell carcinoma" ], "alt_id": [], "def": "The presence of squamous cell carcinoma of the skin.", "synonym": [ [ "squamous cell cancer", "squamous cell cancer" ] ], "xref": [ "MSH:D002294", "MSH:D018307", "NCIT:C2929", "SNOMEDCT_US:28899001", "SNOMEDCT_US:402815007", "UMLS:C0007137", "UMLS:C0751688" ], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0002861": { "name": [ "melanoma", "melanoma" ], "alt_id": [ "HP:0002887", "HP:0006777", "HP:0007474" ], "def": "The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).", "synonym": [ [ "cancer of skin pigment cells", "cancer of skin pigment cell" ], [ "malignant melanoma", "malignant melanoma" ], [ "skin cancer ( melanoma )", "skin cancer ( melanoma )" ] ], "xref": [ "MSH:D008545", "NCIT:C3224", "SNOMEDCT_US:2092003", "SNOMEDCT_US:372244006", "UMLS:C0025202" ], "is_a": [ "HP:0011792" ], "is_obsolete": "", "replace_id": "" }, "HP:0002862": { "name": [ "bladder carcinoma", "bladder carcinoma" ], "alt_id": [], "def": "The presence of a carcinoma of the urinary bladder.", "synonym": [], "xref": [ "NCIT:C2916", "SNOMEDCT_US:255108000", "UMLS:C0699885" ], "is_a": [ "HP:0009725" ], "is_obsolete": "", "replace_id": "" }, "HP:0002863": { "name": [ "myelodysplasia", "myelodysplasia" ], "alt_id": [ "HP:0004832", "HP:0006730" ], "def": "Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.", "synonym": [ [ "hypoplastic myelodysplasia", "hypoplastic myelodysplasia" ], [ "myelodysplastic syndrome", "myelodysplastic syndrome" ] ], "xref": [ "MSH:D009190", "SNOMEDCT_US:109995007", "SNOMEDCT_US:128623006", "SNOMEDCT_US:188736006", "UMLS:C1851971", "UMLS:C3463824" ], "is_a": [ "HP:0004377" ], "is_obsolete": "", "replace_id": "" }, "HP:0002864": { "name": [ "paraganglioma of head and neck", "paraganglioma of head and neck" ], "alt_id": [], "def": "", "synonym": [ [ "paragangliomas , head and neck", "paragangliomas , head and neck" ] ], "xref": [ "UMLS:C1333944" ], "is_a": [ "HP:0002668" ], "is_obsolete": "", "replace_id": "" }, "HP:0002865": { "name": [ "medullary thyroid carcinoma", "medullary thyroid carcinoma" ], "alt_id": [], "def": "The presence of a medullary carcinoma of the thyroid gland.", "synonym": [ [ "medullary thyroid cancer", "medullary thyroid cancer" ] ], "xref": [ "MSH:C536914", "NCIT:C3879", "SNOMEDCT_US:128916007", "SNOMEDCT_US:255032005", "UMLS:C0238462" ], "is_a": [ "HP:0002890" ], "is_obsolete": "", "replace_id": "" }, "HP:0002866": { "name": [ "hypoplastic iliac wing", "hypoplastic iliac wing" ], "alt_id": [ "HP:0003169", "HP:0003181", "HP:0008837" ], "def": "Underdevelopment of the ilium ala.", "synonym": [ [ "hypoplastic iliac alae", "hypoplastic iliac ala" ], [ "hypoplastic iliac wings", "hypoplastic iliac wing" ], [ "small iliac wings", "small iliac wing" ] ], "xref": [ "UMLS:C1865027" ], "is_a": [ "HP:0000946", "HP:0011867" ], "is_obsolete": "", "replace_id": "" }, "HP:0002867": { "name": [ "abnormal ilium morphology", "abnormal ilium morphology" ], "alt_id": [], "def": "An abnormality of the ilium, the largest and uppermost bone of the pelvis.", "synonym": [ [ "abnormality of the ilium", "abnormality of the ilium" ], [ "iliac abnormalities", "iliac abnormality" ] ], "xref": [ "UMLS:C4021746" ], "is_a": [ "HP:0003272" ], "is_obsolete": "", "replace_id": "" }, "HP:0002868": { "name": [ "narrow iliac wing", "narrow iliac wing" ], "alt_id": [], "def": "Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).", "synonym": [ [ "narrow iliac wings", "narrow iliac wing" ] ], "xref": [ "UMLS:C1836688" ], "is_a": [ "HP:0011867" ], "is_obsolete": "", "replace_id": "" }, "HP:0002869": { "name": [ "flared iliac wing", "flare iliac wing" ], "alt_id": [], "def": "Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.", "synonym": [ [ "flared iliac wings", "flare iliac wing" ] ], "xref": [ "UMLS:C1865841" ], "is_a": [ "HP:0011867" ], "is_obsolete": "", "replace_id": "" }, "HP:0002870": { "name": [ "obstructive sleep apnea", "obstructive sleep apnea" ], "alt_id": [], "def": "A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.", "synonym": [ [ "obstructive sleep apnoea", "obstructive sleep apnoea" ] ], "xref": [ "MSH:D020181", "SNOMEDCT_US:78275009", "UMLS:C0520679" ], "is_a": [ "HP:0010535" ], "is_obsolete": "", "replace_id": "" }, "HP:0002871": { "name": [ "central apnea", "central apnea" ], "alt_id": [], "def": "Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.", "synonym": [ [ "central apnoea", "central apnoea" ] ], "xref": [ "MSH:D020182", "UMLS:C0520680" ], "is_a": [ "HP:0002104" ], "is_obsolete": "", "replace_id": "" }, "HP:0002872": { "name": [ "apneic episodes precipitated by illness , fatigue , stress", "apneic episode precipitate by illness , fatigue , stress" ], "alt_id": [], "def": "Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.", "synonym": [ [ "episodic apnea induced by febrile illness or stress", "episodic apnea induce by febrile illness or stress" ] ], "xref": [ "UMLS:C3806462" ], "is_a": [ "HP:0002104" ], "is_obsolete": "", "replace_id": "" }, "HP:0002875": { "name": [ "exertional dyspnea", "exertional dyspnea" ], "alt_id": [], "def": "Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.", "synonym": [ [ "exertional breathlessness", "exertional breathlessness" ], [ "exertional dyspnoea", "exertional dyspnoea" ], [ "shortness of breathing upon physical activity", "shortness of breathe upon physical activity" ] ], "xref": [ "SNOMEDCT_US:60845006", "UMLS:C0231807" ], "is_a": [ "HP:0002094" ], "is_obsolete": "", "replace_id": "" }, "HP:0002876": { "name": [ "episodic tachypnea", "episodic tachypnea" ], "alt_id": [ "HP:0002881" ], "def": "Episodes of very rapid breathing.", "synonym": [ [ "hyperpnea , episodic", "hyperpnea , episodic" ] ], "xref": [ "UMLS:C3806218" ], "is_a": [ "HP:0002789" ], "is_obsolete": "", "replace_id": "" }, "HP:0002877": { "name": [ "nocturnal hypoventilation", "nocturnal hypoventilation" ], "alt_id": [], "def": "An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide.", "synonym": [ [ "hypoventilation during sleep", "hypoventilation during sleep" ], [ "nocturnal hypopnea", "nocturnal hypopnea" ], [ "nocturnal slow breathing", "nocturnal slow breathing" ], [ "nocturnal under breathing", "nocturnal under breathe" ] ], "xref": [ "UMLS:C1843643" ], "is_a": [ "HP:0002791" ], "is_obsolete": "", "replace_id": "" }, "HP:0002878": { "name": [ "respiratory failure", "respiratory failure" ], "alt_id": [ "HP:0004877" ], "def": "A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.", "synonym": [ [ "respiratory failure", "respiratory failure" ] ], "xref": [ "MSH:D012131", "SNOMEDCT_US:409622000", "UMLS:C1145670" ], "is_a": [ "HP:0002093" ], "is_obsolete": "", "replace_id": "" }, "HP:0002879": { "name": [ "anisospondyly", "anisospondyly" ], "alt_id": [], "def": "Abnormally increased variability of the size of the vertebral bodies.", "synonym": [], "xref": [ "UMLS:C1857101" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0002880": { "name": [ "obsolete respiratory difficulties", "obsolete respiratory difficulty" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0002098" }, "HP:0002882": { "name": [ "sudden episodic apnea", "sudden episodic apnea" ], "alt_id": [], "def": "Recurrent bouts of sudden, severe apnea that may be life-threatening.", "synonym": [], "xref": [ "UMLS:C4025671" ], "is_a": [ "HP:0002104" ], "is_obsolete": "", "replace_id": "" }, "HP:0002883": { "name": [ "hyperventilation", "hyperventilation" ], "alt_id": [], "def": "Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.", "synonym": [ [ "rapid breathing", "rapid breathing" ] ], "xref": [ "MSH:D006985", "SNOMEDCT_US:68978004", "UMLS:C0020578" ], "is_a": [ "HP:0002793" ], "is_obsolete": "", "replace_id": "" }, "HP:0002884": { "name": [ "hepatoblastoma", "hepatoblastoma" ], "alt_id": [], "def": "A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.", "synonym": [], "xref": [ "MSH:D018197", "NCIT:C3728", "SNOMEDCT_US:109843000", "SNOMEDCT_US:45024009", "UMLS:C0206624" ], "is_a": [ "HP:0002896", "HP:0002898" ], "is_obsolete": "", "replace_id": "" }, "HP:0002885": { "name": [ "medulloblastoma", "medulloblastoma" ], "alt_id": [], "def": "A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults.", "synonym": [], "xref": [ "MSH:D008527", "NCIT:C3222", "SNOMEDCT_US:443333004", "SNOMEDCT_US:83217000", "UMLS:C0025149" ], "is_a": [ "HP:0100836" ], "is_obsolete": "", "replace_id": "" }, "HP:0002886": { "name": [ "vagal paraganglioma", "vagal paraganglioma" ], "alt_id": [], "def": "A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve.", "synonym": [ [ "glomus vagale paraganglioma", "glomus vagale paraganglioma" ], [ "glomus vagale tumor", "glomus vagale tumor" ], [ "glomus vagale tumour", "glomus vagale tumour" ], [ "vagal nerve tumors", "vagal nerve tumor" ], [ "vagal nerve tumours", "vagal nerve tumour" ] ], "xref": [ "SNOMEDCT_US:253030004", "UMLS:C0474819" ], "is_a": [ "HP:0002864" ], "is_obsolete": "", "replace_id": "" }, "HP:0002888": { "name": [ "ependymoma", "ependymoma" ], "alt_id": [], "def": "The presence of an ependymoma of the central nervous system.", "synonym": [], "xref": [ "MSH:D004806", "NCIT:C3017", "SNOMEDCT_US:443643007", "SNOMEDCT_US:57706008", "UMLS:C0014474" ], "is_a": [ "HP:0009733" ], "is_obsolete": "", "replace_id": "" }, "HP:0002890": { "name": [ "thyroid carcinoma", "thyroid carcinoma" ], "alt_id": [], "def": "The presence of a carcinoma of the thyroid gland.", "synonym": [], "xref": [ "MSH:D013964", "NCIT:C2916", "UMLS:C0549473" ], "is_a": [ "HP:0100031" ], "is_obsolete": "", "replace_id": "" }, "HP:0002891": { "name": [ "uterine leiomyosarcoma", "uterine leiomyosarcoma" ], "alt_id": [], "def": "The presence of a leiomyosarcoma of the uterus.", "synonym": [], "xref": [ "NCIT:C3158", "SNOMEDCT_US:447389009", "UMLS:C0280631" ], "is_a": [ "HP:0010784", "HP:0100243" ], "is_obsolete": "", "replace_id": "" }, "HP:0002893": { "name": [ "pituitary adenoma", "pituitary adenoma" ], "alt_id": [], "def": "A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.", "synonym": [ [ "noncancerous tumor in pituitary gland", "noncancerous tumor in pituitary gland" ], [ "noncancerous tumour in pituitary gland", "noncancerous tumour in pituitary gland" ] ], "xref": [ "ICD-O:M8272/0 \"Pituitary adenoma\"", "MSH:D010911", "NCIT:C2855", "SNOMEDCT_US:128664001", "SNOMEDCT_US:254956000", "UMLS:C0032000" ], "is_a": [ "HP:0011750" ], "is_obsolete": "", "replace_id": "" }, "HP:0002894": { "name": [ "neoplasm of the pancreas", "neoplasm of the pancreas" ], "alt_id": [ "HP:0004511" ], "def": "A tumor (abnormal growth of tissue) of the pancreas.", "synonym": [ [ "cancer of the pancreas", "cancer of the pancreas" ], [ "increased risk of pancreatic cancer", "increase risk of pancreatic cancer" ], [ "neoplasia of the pancreas", "neoplasia of the pancreas" ], [ "pancreatic cancer", "pancreatic cancer" ], [ "pancreatic tumor", "pancreatic tumor" ], [ "pancreatic tumour", "pancreatic tumour" ] ], "xref": [ "MSH:D010190", "NCIT:C3262", "SNOMEDCT_US:126859007", "SNOMEDCT_US:363418001", "UMLS:C0030297", "UMLS:C0346647", "UMLS:C1842408" ], "is_a": [ "HP:0001732", "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0002895": { "name": [ "papillary thyroid carcinoma", "papillary thyroid carcinoma" ], "alt_id": [], "def": "The presence of a papillary adenocarcinoma of the thyroid gland.", "synonym": [ [ "papillary carcinoma of thyroid", "papillary carcinoma of thyroid" ], [ "thyroid papillary carcinoma", "thyroid papillary carcinoma" ] ], "xref": [ "MSH:C536915", "NCIT:C2853", "SNOMEDCT_US:255029007", "UMLS:C0238463" ], "is_a": [ "HP:0002890" ], "is_obsolete": "", "replace_id": "" }, "HP:0002896": { "name": [ "neoplasm of the liver", "neoplasm of the liver" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the liver.", "synonym": [ [ "liver cancer", "liver cancer" ], [ "liver tumor", "liver tumor" ], [ "liver tumour", "liver tumour" ] ], "xref": [ "MSH:D008113", "NCIT:C3262", "SNOMEDCT_US:126851005", "SNOMEDCT_US:93870000", "UMLS:C0023903", "UMLS:C0345904" ], "is_a": [ "HP:0001392", "HP:0007378" ], "is_obsolete": "", "replace_id": "" }, "HP:0002897": { "name": [ "parathyroid adenoma", "parathyroid adenoma" ], "alt_id": [ "HP:0008257" ], "def": "A benign tumor of the parathyroid gland that can cause hyperparathyroidism.", "synonym": [ [ "parathyroid adenomas", "parathyroid adenoma" ] ], "xref": [ "ICD-10:D35.1 \"Benign neoplasm: Parathyroid gland\"", "MSH:D010282", "NCIT:C2855", "SNOMEDCT_US:128474007", "UMLS:C0262587" ], "is_a": [ "HP:0100733" ], "is_obsolete": "", "replace_id": "" }, "HP:0002898": { "name": [ "embryonal neoplasm", "embryonal neoplasm" ], "alt_id": [], "def": "", "synonym": [ [ "embryonal neoplasia", "embryonal neoplasia" ], [ "embryonal tumors", "embryonal tumor" ], [ "embryonal tumours", "embryonal tumour" ] ], "xref": [ "MSH:D009373", "UMLS:C0027654" ], "is_a": [ "HP:0011792" ], "is_obsolete": "", "replace_id": "" }, "HP:0002900": { "name": [ "hypokalemia", "hypokalemia" ], "alt_id": [], "def": "An abnormally decreased potassium concentration in the blood.", "synonym": [ [ "low blood potassium levels", "low blood potassium level" ] ], "xref": [ "MSH:D007008", "SNOMEDCT_US:166690008", "SNOMEDCT_US:43339004", "UMLS:C0020621" ], "is_a": [ "HP:0011042" ], "is_obsolete": "", "replace_id": "" }, "HP:0002901": { "name": [ "hypocalcemia", "hypocalcemia" ], "alt_id": [], "def": "An abnormally decreased calcium concentration in the blood.", "synonym": [ [ "hypocalcaemia", "hypocalcaemia" ], [ "low blood calcium levels", "low blood calcium level" ] ], "xref": [ "MSH:D006996", "SNOMEDCT_US:5291005", "UMLS:C0020598" ], "is_a": [ "HP:0004363" ], "is_obsolete": "", "replace_id": "" }, "HP:0002902": { "name": [ "hyponatremia", "hyponatremia" ], "alt_id": [], "def": "An abnormally decreased sodium concentration in the blood.", "synonym": [ [ "low blood sodium levels", "low blood sodium level" ] ], "xref": [ "MSH:D007010", "SNOMEDCT_US:89627008", "UMLS:C0020625" ], "is_a": [ "HP:0010931" ], "is_obsolete": "", "replace_id": "" }, "HP:0002904": { "name": [ "hyperbilirubinemia", "hyperbilirubinemia" ], "alt_id": [], "def": "An increased amount of bilirubin in the blood.", "synonym": [ [ "high blood bilirubin levels", "high blood bilirubin level" ] ], "xref": [ "SNOMEDCT_US:26165005", "UMLS:C0311468" ], "is_a": [ "HP:0033479" ], "is_obsolete": "", "replace_id": "" }, "HP:0002905": { "name": [ "hyperphosphatemia", "hyperphosphatemia" ], "alt_id": [], "def": "An abnormally increased phosphate concentration in the blood.", "synonym": [ [ "high blood phosphate levels", "high blood phosphate level" ] ], "xref": [ "MSH:D054559", "SNOMEDCT_US:20165001", "UMLS:C0085681", "UMLS:C0553706" ], "is_a": [ "HP:0100529" ], "is_obsolete": "", "replace_id": "" }, "HP:0002907": { "name": [ "microscopic hematuria", "microscopic hematuria" ], "alt_id": [], "def": "Microscopic hematuria detected by dipstick or microscopic examination of the urine.", "synonym": [ [ "microhematuria", "microhematuria" ], [ "occult hematuria", "occult hematuria" ], [ "small amount of blood in urine", "small amount of blood in urine" ] ], "xref": [ "SNOMEDCT_US:197940006", "UMLS:C0239937" ], "is_a": [ "HP:0000790" ], "is_obsolete": "", "replace_id": "" }, "HP:0002908": { "name": [ "conjugated hyperbilirubinemia", "conjugate hyperbilirubinemia" ], "alt_id": [ "HP:0008351" ], "def": "", "synonym": [ [ "direct hyperbilirubinemia", "direct hyperbilirubinemia" ] ], "xref": [ "SNOMEDCT_US:9326001", "UMLS:C0268307" ], "is_a": [ "HP:0002904" ], "is_obsolete": "", "replace_id": "" }, "HP:0002909": { "name": [ "generalized aminoaciduria", "generalize aminoaciduria" ], "alt_id": [ "HP:0008284", "HP:0008317" ], "def": "An increased concentration of all types of amino acid in the urine.", "synonym": [ [ "generalised aminoaciduria", "generalise aminoaciduria" ], [ "generalised nonspecific aminoaciduria", "generalise nonspecific aminoaciduria" ], [ "generalized nonspecific aminoaciduria", "generalize nonspecific aminoaciduria" ] ], "xref": [ "UMLS:C1847868" ], "is_a": [ "HP:0003355" ], "is_obsolete": "", "replace_id": "" }, "HP:0002910": { "name": [ "elevated hepatic transaminase", "elevate hepatic transaminase" ], "alt_id": [ "HP:0001411", "HP:0003143", "HP:0003156", "HP:0003293", "HP:0006567", "HP:0006578", "HP:0008267", "HP:0008342" ], "def": "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.", "synonym": [ [ "abnormal liver enzymes", "abnormal liver enzyme" ], [ "abnormal liver function", "abnormal liver function" ], [ "abnormal liver function tests", "abnormal liver function test" ], [ "elevated liver enzymes", "elevate liver enzyme" ], [ "elevated liver function tests", "elevate liver function test" ], [ "elevated serum transaminases", "elevate serum transaminase" ], [ "elevated transaminases", "elevate transaminase" ], [ "high liver enzymes", "high liver enzyme" ], [ "increased liver enzymes", "increase liver enzyme" ], [ "increased liver function tests", "increase liver function test" ], [ "increased transaminases", "increase transaminase" ], [ "raised liver enzymes", "raise liver enzyme" ], [ "subclinical abnormal liver function tests", "subclinical abnormal liver function test" ] ], "xref": [ "MSH:D008107", "SNOMEDCT_US:166603001", "SNOMEDCT_US:166643006", "SNOMEDCT_US:75183008", "UMLS:C0086565", "UMLS:C0151766", "UMLS:C0235996", "UMLS:C0438237", "UMLS:C0438717", "UMLS:C0877359", "UMLS:C1842003", "UMLS:C1848701" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0002912": { "name": [ "methylmalonic acidemia", "methylmalonic acidemia" ], "alt_id": [ "HP:0003123", "HP:0008295" ], "def": "Increased concentration of methylmalonic acid in the blood.", "synonym": [ [ "elevated circulating methylmalonic acid concentration", "elevate circulate methylmalonic acid concentration" ] ], "xref": [ "MSH:C537358", "SNOMEDCT_US:42393006", "UMLS:C0268583" ], "is_a": [ "HP:0004341", "HP:0010995", "HP:0032368" ], "is_obsolete": "", "replace_id": "" }, "HP:0002913": { "name": [ "myoglobinuria", "myoglobinuria" ], "alt_id": [], "def": "Presence of myoglobin in the urine.", "synonym": [], "xref": [ "MSH:D009212", "SNOMEDCT_US:48165008", "UMLS:C0027080" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0002914": { "name": [ "hyperchloriduria", "hyperchloriduria" ], "alt_id": [], "def": "An increased concentration of chloride in the urine.", "synonym": [ [ "increased urinary chloride", "increase urinary chloride" ] ], "xref": [ "UMLS:C1846352" ], "is_a": [ "HP:0012600" ], "is_obsolete": "", "replace_id": "" }, "HP:0002916": { "name": [ "abnormality of chromosome segregation", "abnormality of chromosome segregation" ], "alt_id": [], "def": "An abnormality of chromosome segregation.", "synonym": [], "xref": [ "UMLS:C4025670" ], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:0002917": { "name": [ "hypomagnesemia", "hypomagnesemia" ], "alt_id": [ "HP:0003284" ], "def": "An abnormally decreased magnesium concentration in the blood.", "synonym": [ [ "low blood magnesium levels", "low blood magnesium level" ], [ "low blood mg levels", "low blood mg level" ] ], "xref": [ "SNOMEDCT_US:190855004", "UMLS:C0151723" ], "is_a": [ "HP:0004921" ], "is_obsolete": "", "replace_id": "" }, "HP:0002918": { "name": [ "hypermagnesemia", "hypermagnesemia" ], "alt_id": [], "def": "An abnormally increased magnesium concentration in the blood.", "synonym": [ [ "high blood magnesium levels", "high blood magnesium level" ], [ "high blood mg levels", "high blood mg level" ] ], "xref": [ "SNOMEDCT_US:66978005", "UMLS:C0151714" ], "is_a": [ "HP:0004921" ], "is_obsolete": "", "replace_id": "" }, "HP:0002919": { "name": [ "ketonuria", "ketonuria" ], "alt_id": [], "def": "High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.", "synonym": [ [ "acetonuria", "acetonuria" ], [ "ketoaciduria", "ketoaciduria" ], [ "ketonaciduria", "ketonaciduria" ], [ "ketone bodies in urine", "ketone body in urine" ] ], "xref": [ "MSH:D007662", "SNOMEDCT_US:274783007", "SNOMEDCT_US:36815008", "UMLS:C0162275" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0002920": { "name": [ "decreased circulating acth level", "decrease circulate acth level" ], "alt_id": [], "def": "An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.", "synonym": [], "xref": [ "UMLS:C4025669" ], "is_a": [ "HP:0011043" ], "is_obsolete": "", "replace_id": "" }, "HP:0002921": { "name": [ "abnormality of the cerebrospinal fluid", "abnormality of the cerebrospinal fluid" ], "alt_id": [], "def": "An abnormality of the cerebrospinal fluid (CSF).", "synonym": [ [ "abnormal csf findings", "abnormal csf finding" ], [ "abnormality of the csf", "abnormality of the csf" ] ], "xref": [ "UMLS:C0151583" ], "is_a": [ "HP:0002011" ], "is_obsolete": "", "replace_id": "" }, "HP:0002922": { "name": [ "increased csf protein", "increase csf protein" ], "alt_id": [], "def": "Increased concentration of protein in the cerebrospinal fluid.", "synonym": [ [ "cerebrospinal fluid protein increased", "cerebrospinal fluid protein increase" ], [ "cerebrospinal fluid with increased protein", "cerebrospinal fluid with increased protein" ], [ "elevated cerebrospinal fluid protein", "elevate cerebrospinal fluid protein" ], [ "elevated csf protein", "elevate csf protein" ], [ "hyperproteinorrhachia", "hyperproteinorrhachia" ], [ "increased protein in csf", "increase protein in csf" ], [ "spinal fluid protein elevated", "spinal fluid protein elevate" ] ], "xref": [ "UMLS:C1806780" ], "is_a": [ "HP:0025456" ], "is_obsolete": "", "replace_id": "" }, "HP:0002923": { "name": [ "rheumatoid factor positive", "rheumatoid factor positive" ], "alt_id": [], "def": "The presence in the serum of an autoantibody directed against the Fc portion of IgG.", "synonym": [], "xref": [ "SNOMEDCT_US:165839004", "UMLS:C0151379" ], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0002924": { "name": [ "obsolete decreased circulating aldosterone level", "obsolete decrease circulate aldosterone level" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0004319" }, "HP:0002925": { "name": [ "elevated circulating thyroid - stimulating hormone concentration", "elevate circulate thyroid - stimulate hormone concentration" ], "alt_id": [], "def": "Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.", "synonym": [ [ "elevated thyroid stimulating hormone", "elevate thyroid stimulate hormone" ], [ "elevated thyroid stimulating hormone levels", "elevate thyroid stimulate hormone level" ], [ "high tsh", "high tsh" ], [ "increased serum thyroid - stimulating hormone", "increase serum thyroid - stimulating hormone" ], [ "increased thyroid - stimulating hormone", "increase thyroid - stimulate hormone" ], [ "increased thyroid - stimulating hormone level", "increase thyroid - stimulate hormone level" ], [ "increased thyrotropin level", "increase thyrotropin level" ], [ "thyroid - stimulating hormone excess", "thyroid - stimulate hormone excess" ], [ "tsh excess", "tsh excess" ] ], "xref": [ "SNOMEDCT_US:309080005", "UMLS:C0586553" ], "is_a": [ "HP:0031097" ], "is_obsolete": "", "replace_id": "" }, "HP:0002926": { "name": [ "abnormality of thyroid physiology", "abnormality of thyroid physiology" ], "alt_id": [], "def": "An abnormal functionality of the thyroid gland.", "synonym": [ [ "abnormal thyroid function", "abnormal thyroid function" ] ], "xref": [ "UMLS:C0857576" ], "is_a": [ "HP:0000820" ], "is_obsolete": "", "replace_id": "" }, "HP:0002927": { "name": [ "histidinuria", "histidinuria" ], "alt_id": [ "HP:0010905" ], "def": "An increased concentration of histidine in the urine.", "synonym": [ [ "elevated histidine in urine", "elevate histidine in urine" ], [ "high urine histidine levels", "high urine histidine level" ] ], "xref": [ "MSH:C538321", "SNOMEDCT_US:78311009", "UMLS:C0268642" ], "is_a": [ "HP:0033100" ], "is_obsolete": "", "replace_id": "" }, "HP:0002928": { "name": [ "decreased activity of the pyruvate dehydrogenase complex", "decreased activity of the pyruvate dehydrogenase complex" ], "alt_id": [], "def": "", "synonym": [ [ "decreased activity of the pdh complex", "decreased activity of the pdh complex" ], [ "pyruvate dehydrogenase complex deficiency", "pyruvate dehydrogenase complex deficiency" ] ], "xref": [ "UMLS:C1839888" ], "is_a": [ "HP:0003287" ], "is_obsolete": "", "replace_id": "" }, "HP:0002929": { "name": [ "leydig cell insensitivity to gonadotropin", "leydig cell insensitivity to gonadotropin" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025668" ], "is_a": [ "HP:0008373" ], "is_obsolete": "", "replace_id": "" }, "HP:0002930": { "name": [ "impaired sensitivity to thyroid hormone", "impaired sensitivity to thyroid hormone" ], "alt_id": [ "HP:0008215", "HP:0008243", "HP:0008262" ], "def": "Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone.", "synonym": [ [ "elevated serum levels of free thyroid hormone with nonsuppressed tsh", "elevate serum level of free thyroid hormone with nonsuppressed tsh" ], [ "end - organ unresponsiveness to thyroid hormone", "end - organ unresponsiveness to thyroid hormone" ], [ "resistance to thyroid hormone", "resistance to thyroid hormone" ], [ "thyroid hormone receptor defect", "thyroid hormone receptor defect" ], [ "thyroid hormone resistance", "thyroid hormone resistance" ] ], "xref": [ "MSH:D018382", "SNOMEDCT_US:111567006", "SNOMEDCT_US:237559000", "SNOMEDCT_US:237560005", "SNOMEDCT_US:50375007", "UMLS:C2940786" ], "is_a": [ "HP:0002926" ], "is_obsolete": "", "replace_id": "" }, "HP:0002932": { "name": [ "aldehyde oxidase deficiency", "aldehyde oxidase deficiency" ], "alt_id": [], "def": "A reduction in aldehyde oxidase level.", "synonym": [], "xref": [ "SNOMEDCT_US:124161002", "UMLS:C1291266" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0002933": { "name": [ "ventral hernia", "ventral hernia" ], "alt_id": [], "def": "Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.", "synonym": [], "xref": [ "MSH:D006555", "SNOMEDCT_US:414396006", "UMLS:C0019326" ], "is_a": [ "HP:0004299" ], "is_obsolete": "", "replace_id": "" }, "HP:0002936": { "name": [ "distal sensory impairment", "distal sensory impairment" ], "alt_id": [ "HP:0003476", "HP:0006843", "HP:0006845", "HP:0006922", "HP:0006971", "HP:0006993", "HP:0007138", "HP:0007292", "HP:0007296" ], "def": "An abnormal reduction in sensation in the distal portions of the extremities.", "synonym": [ [ "decreased distal sensation", "decrease distal sensation" ], [ "decreased sensation in extremities", "decrease sensation in extremity" ], [ "distal sensation loss", "distal sensation loss" ], [ "distal sensory impairment in lower limbs", "distal sensory impairment in low limb" ], [ "distal sensory impairment of the lower extremities", "distal sensory impairment of the low extremity" ], [ "distal sensory loss", "distal sensory loss" ], [ "distal sensory loss , upper and lower limbs", "distal sensory loss , upper and low limb" ], [ "loss of distal sensation", "loss of distal sensation" ] ], "xref": [ "UMLS:C1847584" ], "is_a": [ "HP:0003474" ], "is_obsolete": "", "replace_id": "" }, "HP:0002937": { "name": [ "hemivertebrae", "hemivertebrae" ], "alt_id": [], "def": "Absence of one half of the vertebral body.", "synonym": [ [ "hemi - vertebrae", "hemi - vertebra" ], [ "hemivertebra", "hemivertebra" ], [ "missing part of vertebrae", "miss part of vertebra" ] ], "xref": [ "SNOMEDCT_US:68359008", "UMLS:C0265677" ], "is_a": [ "HP:0003312", "HP:0003422" ], "is_obsolete": "", "replace_id": "" }, "HP:0002938": { "name": [ "lumbar hyperlordosis", "lumbar hyperlordosis" ], "alt_id": [ "HP:0002941", "HP:0004560", "HP:0004574", "HP:0004596" ], "def": "An abnormal accentuation of the inward curvature of the spine in the lumbar region.", "synonym": [ [ "exaggerated lumbar lordosis", "exaggerated lumbar lordosis" ], [ "excessive inward curvature of lower spine", "excessive inward curvature of low spine" ], [ "increased lumbar lordosis", "increase lumbar lordosis" ], [ "lumbar lordosis", "lumbar lordosis" ], [ "prominent lumbar lordosis", "prominent lumbar lordosis" ] ], "xref": [ "UMLS:C1184923" ], "is_a": [ "HP:0003307" ], "is_obsolete": "", "replace_id": "" }, "HP:0002942": { "name": [ "thoracic kyphosis", "thoracic kyphosis" ], "alt_id": [], "def": "Over curvature of the thoracic region, leading to a round back or if sever to a hump.", "synonym": [ [ "accentuated thoracic kyphosis", "accentuate thoracic kyphosis" ], [ "exaggerated thoracic kyphosis", "exaggerated thoracic kyphosis" ] ], "xref": [ "UMLS:C1184919" ], "is_a": [ "HP:0002808", "HP:0100711" ], "is_obsolete": "", "replace_id": "" }, "HP:0002943": { "name": [ "thoracic scoliosis", "thoracic scoliosis" ], "alt_id": [ "HP:0004615" ], "def": "", "synonym": [], "xref": [ "UMLS:C1857790" ], "is_a": [ "HP:0002650", "HP:0100711" ], "is_obsolete": "", "replace_id": "" }, "HP:0002944": { "name": [ "thoracolumbar scoliosis", "thoracolumbar scoliosis" ], "alt_id": [ "HP:0004567", "HP:0004585" ], "def": "", "synonym": [ [ "scoliosis , thoracolumbar", "scoliosis , thoracolumbar" ] ], "xref": [ "UMLS:C0749379" ], "is_a": [ "HP:0002650" ], "is_obsolete": "", "replace_id": "" }, "HP:0002945": { "name": [ "intervertebral space narrowing", "intervertebral space narrowing" ], "alt_id": [], "def": "Decreased height of the intervertebral disk.", "synonym": [ [ "narrow intervertebral disc spaces", "narrow intervertebral disc space" ], [ "narrow intervertebral spaces", "narrow intervertebral space" ] ], "xref": [ "SNOMEDCT_US:11301007", "UMLS:C0263870" ], "is_a": [ "HP:0005108" ], "is_obsolete": "", "replace_id": "" }, "HP:0002946": { "name": [ "supernumerary vertebrae", "supernumerary vertebra" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:87294007", "UMLS:C0265681" ], "is_a": [ "HP:0009144", "HP:0030304" ], "is_obsolete": "", "replace_id": "" }, "HP:0002947": { "name": [ "cervical kyphosis", "cervical kyphosis" ], "alt_id": [], "def": "Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.", "synonym": [ [ "rounded neck", "round neck" ] ], "xref": [ "SNOMEDCT_US:298393001", "UMLS:C0575170" ], "is_a": [ "HP:0002808", "HP:0005905" ], "is_obsolete": "", "replace_id": "" }, "HP:0002948": { "name": [ "vertebral fusion", "vertebral fusion" ], "alt_id": [ "HP:0002807", "HP:0008471", "HP:0008485" ], "def": "A developmental defect leading to the union of two adjacent vertebrae.", "synonym": [ [ "fused vertebrae", "fuse vertebra" ], [ "fusion of vertebral bodies", "fusion of vertebral body" ], [ "spinal fusion", "spinal fusion" ], [ "vertebral body fusion", "vertebral body fusion" ] ], "xref": [ "UMLS:C1835763", "UMLS:C1849073", "UMLS:C3278509" ], "is_a": [ "HP:0003422", "HP:0100240" ], "is_obsolete": "", "replace_id": "" }, "HP:0002949": { "name": [ "fused cervical vertebrae", "fused cervical vertebra" ], "alt_id": [], "def": "A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.", "synonym": [ [ "cervical spine fusion", "cervical spine fusion" ], [ "cervical vertebral fusion", "cervical vertebral fusion" ], [ "fused neck", "fuse neck" ], [ "fusion of cervical vertebrae", "fusion of cervical vertebra" ] ], "xref": [ "UMLS:C3887527" ], "is_a": [ "HP:0002948" ], "is_obsolete": "", "replace_id": "" }, "HP:0002951": { "name": [ "partial absence of cerebellar vermis", "partial absence of cerebellar vermis" ], "alt_id": [], "def": "Congenital absence of a part of the vermis of cerebellum.", "synonym": [], "xref": [ "UMLS:C4025667" ], "is_a": [ "HP:0006817" ], "is_obsolete": "", "replace_id": "" }, "HP:0002953": { "name": [ "vertebral compression fracture", "vertebral compression fracture" ], "alt_id": [], "def": "", "synonym": [ [ "compression fracture of a vertebral body", "compression fracture of a vertebral body" ], [ "fractures of vertebral bodies", "fracture of vertebral body" ], [ "vertebral body compression", "vertebral body compression" ], [ "vertebral collapse", "vertebral collapse" ], [ "vertebral compression", "vertebral compression" ], [ "vertebral compression fractures", "vertebral compression fracture" ], [ "vertebral compression or collapse", "vertebral compression or collapse" ] ], "xref": [ "SNOMEDCT_US:42942008", "SNOMEDCT_US:84138006", "UMLS:C0262431", "UMLS:C0410550" ], "is_a": [ "HP:0003468" ], "is_obsolete": "", "replace_id": "" }, "HP:0002955": { "name": [ "granulomatosis", "granulomatosis" ], "alt_id": [], "def": "A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.", "synonym": [], "xref": [ "SNOMEDCT_US:443138004", "SNOMEDCT_US:44328006", "UMLS:C0521173" ], "is_a": [ "HP:0004311" ], "is_obsolete": "", "replace_id": "" }, "HP:0002958": { "name": [ "immune dysregulation", "immune dysregulation" ], "alt_id": [], "def": "Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.", "synonym": [ [ "immune dysregulation", "immune dysregulation" ], [ "unregulated immune response", "unregulated immune response" ] ], "xref": [ "UMLS:C1844666" ], "is_a": [ "HP:0010978" ], "is_obsolete": "", "replace_id": "" }, "HP:0002959": { "name": [ "impaired ig class switch recombination", "impaired ig class switch recombination" ], "alt_id": [], "def": "An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.", "synonym": [ [ "impaired b - lymphocyte isotype switching", "impaired b - lymphocyte isotype switching" ] ], "xref": [ "UMLS:C1842528" ], "is_a": [ "HP:0005372" ], "is_obsolete": "", "replace_id": "" }, "HP:0002960": { "name": [ "autoimmunity", "autoimmunity" ], "alt_id": [], "def": "The occurrence of an immune reaction against the organism's own cells or tissues.", "synonym": [ [ "autoimmune condition", "autoimmune condition" ], [ "autoimmune disease", "autoimmune disease" ], [ "autoimmune disorder", "autoimmune disorder" ], [ "autoimmunity", "autoimmunity" ] ], "xref": [ "MSH:D001327", "SNOMEDCT_US:85828009", "UMLS:C0004364" ], "is_a": [ "HP:0010978" ], "is_obsolete": "", "replace_id": "" }, "HP:0002961": { "name": [ "dysgammaglobulinemia", "dysgammaglobulinemia" ], "alt_id": [], "def": "Selective deficiency of one or more, but not all, classes of immunoglobulins.", "synonym": [], "xref": [ "MSH:D004406", "SNOMEDCT_US:123782009", "UMLS:C0013374" ], "is_a": [ "HP:0004313" ], "is_obsolete": "", "replace_id": "" }, "HP:0002963": { "name": [ "abnormal delayed hypersensitivity skin test", "abnormal delay hypersensitivity skin test" ], "alt_id": [], "def": "Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.", "synonym": [], "xref": [ "UMLS:C1833172" ], "is_a": [ "HP:0011840" ], "is_obsolete": "", "replace_id": "" }, "HP:0002965": { "name": [ "cutaneous anergy", "cutaneous anergy" ], "alt_id": [ "HP:0005427" ], "def": "Inability to react to a delayed hypersensitivity skin test.", "synonym": [ [ "absence of delayed hypersensitivity skin test", "absence of delayed hypersensitivity skin test" ], [ "lack of delayed skin hypersensitivity reaction", "lack of delayed skin hypersensitivity reaction" ] ], "xref": [ "UMLS:C1855781" ], "is_a": [ "HP:0002963" ], "is_obsolete": "", "replace_id": "" }, "HP:0002967": { "name": [ "cubitus valgus", "cubitus valgus" ], "alt_id": [], "def": "Abnormal positioning in which the elbows are turned out.", "synonym": [ [ "outward turned elbows", "outward turn elbow" ] ], "xref": [ "SNOMEDCT_US:54583007", "UMLS:C0158465" ], "is_a": [ "HP:0009811" ], "is_obsolete": "", "replace_id": "" }, "HP:0002970": { "name": [ "genu varum", "genu varum" ], "alt_id": [ "HP:0003052" ], "def": "A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.", "synonym": [ [ "genu vara", "genu vara" ], [ "genua vara", "genu vara" ], [ "outward bow - leggedness", "outward bow - leggedness" ], [ "outward bowing at knees", "outward bow at knee" ] ], "xref": [ "MSH:D056305", "SNOMEDCT_US:299331007", "UMLS:C0544755" ], "is_a": [ "HP:0002815", "HP:0002979" ], "is_obsolete": "", "replace_id": "" }, "HP:0002971": { "name": [ "absent microvilli on the surface of peripheral blood lymphocytes", "absent microvilli on the surface of peripheral blood lymphocyte" ], "alt_id": [], "def": "Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.", "synonym": [], "xref": [ "UMLS:C1833173" ], "is_a": [ "HP:0004332" ], "is_obsolete": "", "replace_id": "" }, "HP:0002972": { "name": [ "reduced delayed hypersensitivity", "reduce delayed hypersensitivity" ], "alt_id": [ "HP:0005434" ], "def": "Decreased ability to react to a delayed hypersensitivity skin test.", "synonym": [ [ "decreased reactivity to skin test antigens", "decrease reactivity to skin test antigen" ], [ "deficiency of delayed skin hypersensitivity", "deficiency of delayed skin hypersensitivity" ], [ "impaired delayed hypersensitivity", "impaired delay hypersensitivity" ] ], "xref": [ "UMLS:C1843386" ], "is_a": [ "HP:0002963" ], "is_obsolete": "", "replace_id": "" }, "HP:0002973": { "name": [ "abnormality of the forearm", "abnormality of the forearm" ], "alt_id": [], "def": "An abnormality of the lower arm.", "synonym": [ [ "abnormality of the forearm", "abnormality of the forearm" ] ], "xref": [ "UMLS:C4025666" ], "is_a": [ "HP:0002817" ], "is_obsolete": "", "replace_id": "" }, "HP:0002974": { "name": [ "radioulnar synostosis", "radioulnar synostosis" ], "alt_id": [ "HP:0003962" ], "def": "An abnormal osseous union (fusion) between the radius and the ulna.", "synonym": [ [ "fused forearm bones", "fuse forearm bone" ] ], "xref": [ "MEDDRA:10037798 \"Radioulnar synostosis\"", "MSH:C562408", "SNOMEDCT_US:33313004", "UMLS:C0158761" ], "is_a": [ "HP:0002818", "HP:0002997", "HP:0100238" ], "is_obsolete": "", "replace_id": "" }, "HP:0002977": { "name": [ "aplasia / hypoplasia involving the central nervous system", "aplasia / hypoplasia involve the central nervous system" ], "alt_id": [ "HP:0001323" ], "def": "Absence or underdevelopment of tissue in the central nervous system.", "synonym": [ [ "absent / underdeveloped central nervous system tissue", "absent / underdeveloped central nervous system tissue" ], [ "aplasia / hypoplasia involving the cns", "aplasia / hypoplasia involve the cns" ] ], "xref": [ "UMLS:C4025665" ], "is_a": [ "HP:0002011" ], "is_obsolete": "", "replace_id": "" }, "HP:0002979": { "name": [ "bowing of the legs", "bowing of the leg" ], "alt_id": [ "HP:0006428" ], "def": "A bending or abnormal curvature affecting a long bone of the leg.", "synonym": [ [ "bow legs", "bow leg" ], [ "bow - leggedness", "bow - leggedness" ], [ "bowed legs", "bow leg" ], [ "bowed lower limbs", "bow low limb" ] ], "xref": [ "MSH:D056305", "SNOMEDCT_US:299331007", "UMLS:C0544755" ], "is_a": [ "HP:0002981", "HP:0006487" ], "is_obsolete": "", "replace_id": "" }, "HP:0002980": { "name": [ "femoral bowing", "femoral bowing" ], "alt_id": [ "HP:0004998" ], "def": "Bowing (abnormal curvature) of the femur.", "synonym": [ [ "bowed femur", "bow femur" ], [ "bowed femura", "bow femura" ], [ "bowed femurs", "bow femur" ], [ "bowed thighbone", "bow thighbone" ] ], "xref": [ "UMLS:C1859461" ], "is_a": [ "HP:0002823", "HP:0002979" ], "is_obsolete": "", "replace_id": "" }, "HP:0002981": { "name": [ "abnormality of the calf", "abnormality of the calf" ], "alt_id": [], "def": "An abnormality of the calf, i.e. of the posterior part of the lower leg.", "synonym": [ [ "abnormality of the calf", "abnormality of the calf" ] ], "xref": [ "UMLS:C4021832" ], "is_a": [ "HP:0002814" ], "is_obsolete": "", "replace_id": "" }, "HP:0002982": { "name": [ "tibial bowing", "tibial bowing" ], "alt_id": [ "HP:0006363" ], "def": "A bending or abnormal curvature of the tibia.", "synonym": [ [ "bowed shankbone", "bow shankbone" ], [ "bowed shinbone", "bow shinbone" ], [ "bowed tibia", "bow tibia" ], [ "bowing of the tibia", "bowing of the tibia" ] ], "xref": [ "UMLS:C1837081" ], "is_a": [ "HP:0002979", "HP:0002992" ], "is_obsolete": "", "replace_id": "" }, "HP:0002983": { "name": [ "micromelia", "micromelia" ], "alt_id": [ "HP:0003030", "HP:0005753" ], "def": "The presence of abnormally small extremities.", "synonym": [ [ "smaller or shorter than typical limbs", "small or short than typical limb" ] ], "xref": [ "MEDDRA:10027546 \"Micromelia\"", "SNOMEDCT_US:74370006", "UMLS:C0025995" ], "is_a": [ "HP:0009826" ], "is_obsolete": "", "replace_id": "" }, "HP:0002984": { "name": [ "hypoplasia of the radius", "hypoplasia of the radius" ], "alt_id": [ "HP:0002995", "HP:0004989", "HP:0005014", "HP:0005081", "HP:0005714", "HP:0006418" ], "def": "Underdevelopment of the radius.", "synonym": [ [ "hypoplastic radii", "hypoplastic radius" ], [ "hypoplastic radius", "hypoplastic radius" ], [ "radial hypoplasia", "radial hypoplasia" ], [ "radial ray hypoplasia", "radial ray hypoplasia" ], [ "short radii", "short radius" ], [ "short radius", "short radius" ], [ "shortening of radius", "shortening of radius" ], [ "underdeveloped outer large forearm bone", "underdeveloped out large forearm bone" ] ], "xref": [ "SNOMEDCT_US:205170001", "SNOMEDCT_US:93288001", "UMLS:C0685381", "UMLS:C1840087" ], "is_a": [ "HP:0006501", "HP:0009821", "HP:0045009" ], "is_obsolete": "", "replace_id": "" }, "HP:0002986": { "name": [ "radial bowing", "radial bowing" ], "alt_id": [ "HP:0004996" ], "def": "A bending or abnormal curvature of the radius.", "synonym": [ [ "bowed radii", "bow radius" ], [ "bowed radius", "bow radius" ], [ "bowing of outer large bone of the forearm", "bowing of out large bone of the forearm" ], [ "bowing of radius bone of the forearm", "bowing of radius bone of the forearm" ] ], "xref": [ "UMLS:C1859399" ], "is_a": [ "HP:0003956", "HP:0045008" ], "is_obsolete": "", "replace_id": "" }, "HP:0002987": { "name": [ "elbow flexion contracture", "elbow flexion contracture" ], "alt_id": [ "HP:0003937", "HP:0004984", "HP:0005654" ], "def": "A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow.", "synonym": [ [ "contracture of elbow joint", "contracture of elbow joint" ], [ "contractures of elbows", "contracture of elbow" ], [ "contractures of the elbows", "contracture of the elbow" ], [ "elbow contracture", "elbow contracture" ], [ "elbow contractures", "elbow contracture" ], [ "elbow flexion contractures", "elbow flexion contracture" ], [ "elbow flexion deformity", "elbow flexion deformity" ], [ "fixed flexion at the elbow joint", "fix flexion at the elbow joint" ] ], "xref": [ "SNOMEDCT_US:202271004", "UMLS:C0409338" ], "is_a": [ "HP:0002996", "HP:0100360" ], "is_obsolete": "", "replace_id": "" }, "HP:0002990": { "name": [ "fibular aplasia", "fibular aplasia" ], "alt_id": [ "HP:0006373" ], "def": "Absence of the fibula.", "synonym": [ [ "absent calf bone", "absent calf bone" ], [ "absent fibulae", "absent fibula" ], [ "absent - hypoplastic fibulae", "absent - hypoplastic fibula" ] ], "xref": [ "MEDDRA:10054882 \"Fibula agenesis\"", "UMLS:C1836186" ], "is_a": [ "HP:0006492" ], "is_obsolete": "", "replace_id": "" }, "HP:0002991": { "name": [ "abnormality of fibula morphology", "abnormality of fibula morphology" ], "alt_id": [], "def": "An anomaly of the calf bone (fibula), one of the two bones of the calf.", "synonym": [ [ "abnormality of the calf bone", "abnormality of the calf bone" ] ], "xref": [ "UMLS:C4025664" ], "is_a": [ "HP:0002981", "HP:0040069" ], "is_obsolete": "", "replace_id": "" }, "HP:0002992": { "name": [ "abnormality of tibia morphology", "abnormality of tibia morphology" ], "alt_id": [], "def": "Abnormality of the tibia (shinbone).", "synonym": [ [ "abnormality of the shankbone", "abnormality of the shankbone" ], [ "abnormality of the shinbone", "abnormality of the shinbone" ] ], "xref": [ "UMLS:C4025663" ], "is_a": [ "HP:0002981", "HP:0040069" ], "is_obsolete": "", "replace_id": "" }, "HP:0002996": { "name": [ "limited elbow movement", "limited elbow movement" ], "alt_id": [ "HP:0006395" ], "def": "", "synonym": [ [ "decreased elbow mobility", "decrease elbow mobility" ], [ "limited elbow mobility", "limited elbow mobility" ], [ "limited elbow movement", "limited elbow movement" ], [ "restricted elbow motion", "restrict elbow motion" ] ], "xref": [ "UMLS:C1849955" ], "is_a": [ "HP:0001376", "HP:0009811" ], "is_obsolete": "", "replace_id": "" }, "HP:0002997": { "name": [ "abnormality of the ulna", "abnormality of the ulna" ], "alt_id": [], "def": "An abnormality of the ulna bone of the forearm.", "synonym": [], "xref": [ "UMLS:C4025662" ], "is_a": [ "HP:0040072" ], "is_obsolete": "", "replace_id": "" }, "HP:0002999": { "name": [ "patellar dislocation", "patellar dislocation" ], "alt_id": [], "def": "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.", "synonym": [ [ "dislocated kneecap", "dislocate kneecap" ], [ "dislocated patellae", "dislocate patella" ], [ "dislocation of patella", "dislocation of patella" ] ], "xref": [ "MSH:D031222", "SNOMEDCT_US:263029007", "UMLS:C1135812" ], "is_a": [ "HP:0003045", "HP:0030311" ], "is_obsolete": "", "replace_id": "" }, "HP:0003001": { "name": [ "glomus jugular tumor", "glomus jugular tumor" ], "alt_id": [], "def": "", "synonym": [ [ "glomus jugular tumour", "glomus jugular tumour" ], [ "glomus jugulare tumor", "glomus jugulare tumor" ], [ "glomus jugulare tumors", "glomus jugulare tumor" ], [ "glomus jugulare tumour", "glomus jugulare tumour" ], [ "glomus jugulare tumours", "glomus jugulare tumour" ] ], "xref": [ "MSH:D005925", "SNOMEDCT_US:127030001", "SNOMEDCT_US:32037004", "UMLS:C0017671" ], "is_a": [ "HP:0002864" ], "is_obsolete": "", "replace_id": "" }, "HP:0003002": { "name": [ "breast carcinoma", "breast carcinoma" ], "alt_id": [], "def": "The presence of a carcinoma of the breast.", "synonym": [ [ "breast cancer", "breast cancer" ] ], "xref": [ "MSH:D001943", "NCIT:C2916", "SNOMEDCT_US:254838004", "UMLS:C0678222" ], "is_a": [ "HP:0100013" ], "is_obsolete": "", "replace_id": "" }, "HP:0003003": { "name": [ "colon cancer", "colon cancer" ], "alt_id": [ "HP:0006718" ], "def": "", "synonym": [ [ "colon cancer", "colon cancer" ] ], "xref": [ "MSH:D003110", "SNOMEDCT_US:363406005", "UMLS:C0007102" ], "is_a": [ "HP:0100273" ], "is_obsolete": "", "replace_id": "" }, "HP:0003005": { "name": [ "ganglioneuroma", "ganglioneuroma" ], "alt_id": [], "def": "A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.", "synonym": [], "xref": [ "MSH:D005729", "SNOMEDCT_US:116371000119107", "SNOMEDCT_US:128919000", "SNOMEDCT_US:53801007", "UMLS:C0017075" ], "is_a": [ "HP:0030450" ], "is_obsolete": "", "replace_id": "" }, "HP:0003006": { "name": [ "neuroblastoma", "neuroblastoma" ], "alt_id": [ "HP:0006738" ], "def": "Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.", "synonym": [ [ "cancer of early nerve cells", "cancer of early nerve cell" ] ], "xref": [ "MSH:D009447", "NCIT:C3270", "SNOMEDCT_US:432328008", "SNOMEDCT_US:87364003", "UMLS:C0027819" ], "is_a": [ "HP:0004376", "HP:0030067" ], "is_obsolete": "", "replace_id": "" }, "HP:0003009": { "name": [ "enhanced neurotoxicity of vincristine", "enhanced neurotoxicity of vincristine" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025661" ], "is_a": [ "HP:0000759" ], "is_obsolete": "", "replace_id": "" }, "HP:0003010": { "name": [ "prolonged bleeding time", "prolong bleeding time" ], "alt_id": [ "HP:0008294", "HP:0008337" ], "def": "Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.", "synonym": [ [ "increased bleeding time", "increase bleeding time" ], [ "prolonged bleeding time", "prolong bleeding time" ] ], "xref": [ "UMLS:C0151529" ], "is_a": [ "HP:0001892" ], "is_obsolete": "", "replace_id": "" }, "HP:0003011": { "name": [ "abnormality of the musculature", "abnormality of the musculature" ], "alt_id": [ "HP:0003197", "HP:0003708", "HP:0040290" ], "def": "Abnormality originating in one or more muscles, i.e., of the set of muscles of body.", "synonym": [ [ "muscular abnormality", "muscular abnormality" ] ], "xref": [ "UMLS:C4021745" ], "is_a": [ "HP:0033127" ], "is_obsolete": "", "replace_id": "" }, "HP:0003013": { "name": [ "bulging epiphyses", "bulging epiphysis" ], "alt_id": [], "def": "A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).", "synonym": [ [ "bulging end part of bone", "bulge end part of bone" ] ], "xref": [ "UMLS:C1833329" ], "is_a": [ "HP:0010580" ], "is_obsolete": "", "replace_id": "" }, "HP:0003015": { "name": [ "flared metaphysis", "flare metaphysis" ], "alt_id": [ "HP:0000945", "HP:0003047", "HP:0004994", "HP:0005015", "HP:0005095", "HP:0200002" ], "def": "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.", "synonym": [ [ "flared wide portion of long bone", "flare wide portion of long bone" ], [ "flared , widened metaphyses", "flare , widen metaphyses" ], [ "marked metaphyseal flaring of long bones", "mark metaphyseal flaring of long bone" ], [ "metaphyseal flaring", "metaphyseal flaring" ], [ "metaphyseal flaring of long bones", "metaphyseal flaring of long bone" ], [ "metaphyseal splaying", "metaphyseal splay" ], [ "metaphyses flared", "metaphyses flare" ], [ "splayed metaphyses", "splay metaphyses" ] ], "xref": [ "UMLS:C1850135" ], "is_a": [ "HP:0003016" ], "is_obsolete": "", "replace_id": "" }, "HP:0003016": { "name": [ "metaphyseal widening", "metaphyseal widening" ], "alt_id": [ "HP:0005074" ], "def": "Abnormal widening of the metaphyseal regions of long bones.", "synonym": [ [ "broad wide portion of long bone", "broad wide portion of long bone" ], [ "wide metaphyses", "wide metaphyses" ], [ "widened long bone metaphyses", "widen long bone metaphyses" ], [ "widened metaphyses", "widen metaphyses" ] ], "xref": [ "UMLS:C1849039" ], "is_a": [ "HP:0000944" ], "is_obsolete": "", "replace_id": "" }, "HP:0003019": { "name": [ "abnormality of the wrist", "abnormality of the wrist" ], "alt_id": [ "HP:0001224" ], "def": "Abnormality of the wrist, the structure connecting the hand and the forearm.", "synonym": [ [ "abnormalities of the wrists", "abnormality of the wrist" ], [ "abnormality of the wrist", "abnormality of the wrist" ] ], "xref": [ "UMLS:C4021744" ], "is_a": [ "HP:0009810" ], "is_obsolete": "", "replace_id": "" }, "HP:0003020": { "name": [ "enlargement of the wrists", "enlargement of the wrist" ], "alt_id": [], "def": "", "synonym": [ [ "enlargement of the wrists", "enlargement of the wrist" ] ], "xref": [ "UMLS:C1838663" ], "is_a": [ "HP:0003019" ], "is_obsolete": "", "replace_id": "" }, "HP:0003021": { "name": [ "metaphyseal cupping", "metaphyseal cup" ], "alt_id": [], "def": "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.", "synonym": [], "xref": [ "UMLS:C1837082" ], "is_a": [ "HP:0000944" ], "is_obsolete": "", "replace_id": "" }, "HP:0003022": { "name": [ "hypoplasia of the ulna", "hypoplasia of the ulna" ], "alt_id": [ "HP:0002998", "HP:0005842", "HP:0006388", "HP:0006444" ], "def": "Underdevelopment of the ulna.", "synonym": [ [ "hypoplastic ulna", "hypoplastic ulna" ], [ "short ulna", "short ulna" ], [ "short ulnae", "short ulna" ], [ "ulnar hypoplasia", "ulnar hypoplasia" ], [ "underdeveloped inner large forearm bone", "underdeveloped inner large forearm bone" ], [ "underdeveloped ulna", "underdeveloped ulna" ] ], "xref": [ "MSH:C538069", "UMLS:C1860614", "UMLS:C1862132" ], "is_a": [ "HP:0006495", "HP:0009821", "HP:0040071" ], "is_obsolete": "", "replace_id": "" }, "HP:0003023": { "name": [ "bowing of limbs due to multiple fractures", "bowing of limb due to multiple fracture" ], "alt_id": [], "def": "Curvature of the shafts of the long bones due to multiple fractures.", "synonym": [ [ "bowed limbs due to multiple fractures", "bow limb due to multiple fracture" ] ], "xref": [ "UMLS:C1850178" ], "is_a": [ "HP:0002659" ], "is_obsolete": "", "replace_id": "" }, "HP:0003025": { "name": [ "metaphyseal irregularity", "metaphyseal irregularity" ], "alt_id": [ "HP:0003017", "HP:0004995", "HP:0005016", "HP:0005032", "HP:0005038", "HP:0005058", "HP:0005062", "HP:0005065", "HP:0005078", "HP:0005896" ], "def": "Irregularity of the normally smooth surface of the metaphyses.", "synonym": [ [ "frayed , irregular metaphyses", "fray , irregular metaphyses" ], [ "frayed , irregular , metaphyses", "fray , irregular , metaphyses" ], [ "irregular metaphyses", "irregular metaphyses" ], [ "irregular wide portion of a long bone", "irregular wide portion of a long bone" ], [ "metaphyseal fraying", "metaphyseal fraying" ], [ "metaphyseal irregularities", "metaphyseal irregularity" ] ], "xref": [ "UMLS:C1838662" ], "is_a": [ "HP:0000944" ], "is_obsolete": "", "replace_id": "" }, "HP:0003026": { "name": [ "short long bone", "short long bone" ], "alt_id": [ "HP:0000949", "HP:0004983", "HP:0004988", "HP:0005000", "HP:0005029", "HP:0005044", "HP:0005052", "HP:0005077", "HP:0005083", "HP:0005647", "HP:0005822", "HP:0006382", "HP:0006457", "HP:0006472" ], "def": "One or more abnormally short long bone.", "synonym": [ [ "long bone shortening", "long bone shortening" ], [ "short long bone", "short long bone" ], [ "short tubular bones", "short tubular bone" ], [ "shortened long tubular bones", "shorten long tubular bone" ] ], "xref": [ "UMLS:C1854912" ], "is_a": [ "HP:0011314" ], "is_obsolete": "", "replace_id": "" }, "HP:0003027": { "name": [ "mesomelia", "mesomelia" ], "alt_id": [], "def": "Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.", "synonym": [ [ "disproportionately short middle portion of limb", "disproportionately short middle portion of limb" ], [ "mesomelic limb shortening", "mesomelic limb shorten" ], [ "mesomelic shortening of limbs", "mesomelic shortening of limb" ], [ "symmetric mesomelic limb shortness", "symmetric mesomelic limb shortness" ] ], "xref": [ "UMLS:C0549306" ], "is_a": [ "HP:0009826" ], "is_obsolete": "", "replace_id": "" }, "HP:0003028": { "name": [ "abnormality of the ankles", "abnormality of the ankle" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the ankles", "abnormality of the ankle" ] ], "xref": [ "UMLS:C4025660" ], "is_a": [ "HP:0100491" ], "is_obsolete": "", "replace_id": "" }, "HP:0003029": { "name": [ "enlargement of the ankles", "enlargement of the ankle" ], "alt_id": [], "def": "", "synonym": [ [ "enlargement of the ankles", "enlargement of the ankle" ] ], "xref": [ "UMLS:C1838664" ], "is_a": [ "HP:0003028" ], "is_obsolete": "", "replace_id": "" }, "HP:0003031": { "name": [ "ulnar bowing", "ulnar bowing" ], "alt_id": [ "HP:0003983" ], "def": "Bending of the diaphysis (shaft) of the ulna.", "synonym": [ [ "bowed ulna", "bow ulna" ], [ "curved ulna", "curve ulna" ], [ "curving of inner forearm bone", "curving of inner forearm bone" ] ], "xref": [ "UMLS:C1865847" ], "is_a": [ "HP:0002997", "HP:0003956" ], "is_obsolete": "", "replace_id": "" }, "HP:0003034": { "name": [ "diaphyseal sclerosis", "diaphyseal sclerosis" ], "alt_id": [ "HP:0005611" ], "def": "An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "craniodiaphyseal osteosclerosis", "craniodiaphyseal osteosclerosis" ], [ "diaphyseal osteosclerosis", "diaphyseal osteosclerosis" ], [ "increased bone density in shaft of long bone", "increase bone density in shaft of long bone" ] ], "xref": [ "MSH:D003966", "SNOMEDCT_US:318761000119105", "SNOMEDCT_US:34643004", "UMLS:C0011989" ], "is_a": [ "HP:0000940", "HP:0006392" ], "is_obsolete": "", "replace_id": "" }, "HP:0003037": { "name": [ "enlarged joints", "enlarged joint" ], "alt_id": [], "def": "Increase in size of one or more joints.", "synonym": [ [ "enlarged joints", "enlarged joint" ], [ "prominent joints", "prominent joint" ] ], "xref": [ "UMLS:C1859111" ], "is_a": [ "HP:0001367" ], "is_obsolete": "", "replace_id": "" }, "HP:0003038": { "name": [ "fibular hypoplasia", "fibular hypoplasia" ], "alt_id": [ "HP:0002985", "HP:0005887", "HP:0006401" ], "def": "Underdevelopment of the fibula.", "synonym": [ [ "hypoplastic fibula", "hypoplastic fibula" ], [ "short calf bone", "short calf bone" ], [ "short fibula", "short fibula" ], [ "short fibulae", "short fibula" ] ], "xref": [ "UMLS:C1832119" ], "is_a": [ "HP:0003026", "HP:0006492" ], "is_obsolete": "", "replace_id": "" }, "HP:0003040": { "name": [ "arthropathy", "arthropathy" ], "alt_id": [], "def": "", "synonym": [ [ "disease of the joints", "disease of the joint" ] ], "xref": [ "MSH:D007592", "SNOMEDCT_US:399269003", "UMLS:C0022408" ], "is_a": [ "HP:0001367" ], "is_obsolete": "", "replace_id": "" }, "HP:0003041": { "name": [ "humeroradial synostosis", "humeroradial synostosis" ], "alt_id": [ "HP:0003936" ], "def": "An abnormal osseous union (fusion) between the radius and the humerus.", "synonym": [ [ "fusion of upper and lower arm bones", "fusion of upper and low arm bone" ], [ "humeral radial synostosis", "humeral radial synostosis" ], [ "humeral - radial synostosis", "humeral - radial synostosis" ], [ "radiohumeral synostosis of elbow", "radiohumeral synostosis of elbow" ], [ "synostosis of radius and humerus", "synostosis of radius and humerus" ] ], "xref": [ "MSH:C535284", "SNOMEDCT_US:205329008", "UMLS:C1863360", "UMLS:C2930865" ], "is_a": [ "HP:0002818", "HP:0003063", "HP:0003938", "HP:0100744" ], "is_obsolete": "", "replace_id": "" }, "HP:0003042": { "name": [ "elbow dislocation", "elbow dislocation" ], "alt_id": [ "HP:0006411" ], "def": "Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.", "synonym": [ [ "dislocations of the elbows", "dislocation of the elbow" ], [ "elbow dislocation", "elbow dislocation" ], [ "elbow dislocations", "elbow dislocation" ], [ "radiocapitellar dislocation", "radiocapitellar dislocation" ], [ "radiohumeral dislocation", "radiohumeral dislocation" ], [ "ulnohumeral dislocation", "ulnohumeral dislocation" ] ], "xref": [ "SNOMEDCT_US:125617002", "SNOMEDCT_US:417558002", "UMLS:C1403299", "UMLS:C1403321", "UMLS:C2720437" ], "is_a": [ "HP:0009811", "HP:0030310" ], "is_obsolete": "", "replace_id": "" }, "HP:0003043": { "name": [ "abnormal shoulder morphology", "abnormal shoulder morphology" ], "alt_id": [], "def": "An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.", "synonym": [ [ "abnormality of the shoulder", "abnormality of the shoulder" ] ], "xref": [ "UMLS:C4025659" ], "is_a": [ "HP:0000765", "HP:0011844" ], "is_obsolete": "", "replace_id": "" }, "HP:0003044": { "name": [ "shoulder flexion contracture", "shoulder flexion contracture" ], "alt_id": [], "def": "Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.", "synonym": [], "xref": [ "SNOMEDCT_US:202265005", "UMLS:C0409336" ], "is_a": [ "HP:0003043", "HP:0100360" ], "is_obsolete": "", "replace_id": "" }, "HP:0003045": { "name": [ "abnormal patella morphology", "abnormal patella morphology" ], "alt_id": [], "def": "Abnormality of the patella (knee cap).", "synonym": [ [ "abnormal kneecap", "abnormal kneecap" ], [ "abnormality of the patella", "abnormality of the patella" ], [ "patellar abnormality", "patellar abnormality" ] ], "xref": [ "UMLS:C4021743" ], "is_a": [ "HP:0002815" ], "is_obsolete": "", "replace_id": "" }, "HP:0003048": { "name": [ "radial head subluxation", "radial head subluxation" ], "alt_id": [], "def": "Partial dislocation of the head of the radius.", "synonym": [ [ "radial subluxation", "radial subluxation" ], [ "radial - head subluxation", "radial - head subluxation" ] ], "xref": [ "SNOMEDCT_US:417109008", "SNOMEDCT_US:95854004", "UMLS:C0149977" ], "is_a": [ "HP:0032153" ], "is_obsolete": "", "replace_id": "" }, "HP:0003049": { "name": [ "ulnar deviation of the wrist", "ulnar deviation of the wrist" ], "alt_id": [], "def": "", "synonym": [ [ "ulnar deviation of wrists", "ulnar deviation of wrist" ] ], "xref": [ "SNOMEDCT_US:43689004", "UMLS:C0231678" ], "is_a": [ "HP:0003019" ], "is_obsolete": "", "replace_id": "" }, "HP:0003051": { "name": [ "enlarged metaphyses", "enlarge metaphyses" ], "alt_id": [ "HP:0005018" ], "def": "Abnormal increase in size of one or more metaphyses.", "synonym": [ [ "enlarged wide portion of a long bone", "enlarge wide portion of a long bone" ] ], "xref": [ "UMLS:C1855544" ], "is_a": [ "HP:0000944" ], "is_obsolete": "", "replace_id": "" }, "HP:0003053": { "name": [ "epiphyseal deformities of tubular bones", "epiphyseal deformity of tubular bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1854786" ], "is_a": [ "HP:0005930" ], "is_obsolete": "", "replace_id": "" }, "HP:0003057": { "name": [ "tetraamelia", "tetraamelia" ], "alt_id": [], "def": "Amelia of all four limbs.", "synonym": [ [ "tetra - amelia", "tetra - amelia" ] ], "xref": [ "MSH:C536498", "SNOMEDCT_US:702313004", "UMLS:C2931216" ], "is_a": [ "HP:0009827" ], "is_obsolete": "", "replace_id": "" }, "HP:0003059": { "name": [ "abnormality of the radioulnar joints", "abnormality of the radioulnar joint" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025658" ], "is_a": [ "HP:0002973", "HP:0005262" ], "is_obsolete": "", "replace_id": "" }, "HP:0003063": { "name": [ "abnormality of the humerus", "abnormality of the humerus" ], "alt_id": [ "HP:0002988" ], "def": "An abnormality of the humerus (i.e., upper arm bone).", "synonym": [ [ "abnormality of the humeri", "abnormality of the humerus" ] ], "xref": [ "UMLS:C4021742" ], "is_a": [ "HP:0001454", "HP:0040070" ], "is_obsolete": "", "replace_id": "" }, "HP:0003065": { "name": [ "patellar hypoplasia", "patellar hypoplasia" ], "alt_id": [ "HP:0005020" ], "def": "Underdevelopment of the patella.", "synonym": [ [ "hypoplastic patellae", "hypoplastic patella" ], [ "small kneecap", "small kneecap" ], [ "small patella", "small patella" ], [ "small patellae", "small patella" ], [ "underdeveloped kneecap", "underdeveloped kneecap" ] ], "xref": [ "UMLS:C1840068" ], "is_a": [ "HP:0006498" ], "is_obsolete": "", "replace_id": "" }, "HP:0003066": { "name": [ "limited knee extension", "limited knee extension" ], "alt_id": [], "def": "Reduced ability to extend (straighten) the knee joint.", "synonym": [ [ "limited knee extension", "limited knee extension" ] ], "xref": [ "UMLS:C1844690" ], "is_a": [ "HP:0010501" ], "is_obsolete": "", "replace_id": "" }, "HP:0003067": { "name": [ "madelung deformity", "madelung deformity" ], "alt_id": [], "def": "An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna.", "synonym": [ [ "madelung wrist deformity", "madelung wrist deformity" ] ], "xref": [ "MSH:C562398", "SNOMEDCT_US:4530000", "UMLS:C0152441" ], "is_a": [ "HP:0003019" ], "is_obsolete": "", "replace_id": "" }, "HP:0003068": { "name": [ "madelung - like forearm deformities", "madelung - like forearm deformity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1851419" ], "is_a": [ "HP:0002818" ], "is_obsolete": "", "replace_id": "" }, "HP:0003070": { "name": [ "elbow ankylosis", "elbow ankylosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:202307002", "UMLS:C0409477" ], "is_a": [ "HP:0009811", "HP:0031013" ], "is_obsolete": "", "replace_id": "" }, "HP:0003071": { "name": [ "flattened epiphysis", "flatten epiphysis" ], "alt_id": [ "HP:0004982", "HP:0005051", "HP:0005076", "HP:0005080" ], "def": "Abnormal flatness (decreased height) of epiphyses.", "synonym": [ [ "flat end part of bone", "flat end part of bone" ], [ "flat epiphyses", "flat epiphysis" ] ], "xref": [ "UMLS:C1857527" ], "is_a": [ "HP:0005930" ], "is_obsolete": "", "replace_id": "" }, "HP:0003072": { "name": [ "hypercalcemia", "hypercalcemia" ], "alt_id": [], "def": "An abnormally increased calcium concentration in the blood.", "synonym": [ [ "high blood calcium levels", "high blood calcium level" ], [ "hypercalcaemia", "hypercalcaemia" ], [ "increased calcium in blood", "increased calcium in blood" ] ], "xref": [ "MSH:D006934", "SNOMEDCT_US:166702002", "SNOMEDCT_US:66931009", "UMLS:C0020437" ], "is_a": [ "HP:0004363" ], "is_obsolete": "", "replace_id": "" }, "HP:0003073": { "name": [ "hypoalbuminemia", "hypoalbuminemia" ], "alt_id": [], "def": "Reduction in the concentration of albumin in the blood.", "synonym": [ [ "hypoalbuminaemia", "hypoalbuminaemia" ], [ "low albumin", "low albumin" ], [ "low blood albumin", "low blood albumin" ] ], "xref": [ "MSH:D034141", "SNOMEDCT_US:119247004", "UMLS:C0239981" ], "is_a": [ "HP:0012116" ], "is_obsolete": "", "replace_id": "" }, "HP:0003074": { "name": [ "hyperglycemia", "hyperglycemia" ], "alt_id": [], "def": "An increased concentration of glucose in the blood.", "synonym": [ [ "high blood glucose", "high blood glucose" ], [ "high blood sugar", "high blood sugar" ] ], "xref": [ "MSH:D006943", "SNOMEDCT_US:237598005", "SNOMEDCT_US:80394007", "UMLS:C0020456" ], "is_a": [ "HP:0011015" ], "is_obsolete": "", "replace_id": "" }, "HP:0003075": { "name": [ "hypoproteinemia", "hypoproteinemia" ], "alt_id": [], "def": "A decreased concentration of protein in the blood.", "synonym": [ [ "decreased protein levels in blood", "decrease protein level in blood" ] ], "xref": [ "MSH:D007019", "SNOMEDCT_US:8900005", "UMLS:C0020639" ], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0003076": { "name": [ "glycosuria", "glycosuria" ], "alt_id": [ "HP:0003122", "HP:0011016" ], "def": "An increased concentration of glucose in the urine.", "synonym": [ [ "glucose in urine", "glucose in urine" ], [ "glucosuria", "glucosuria" ] ], "xref": [ "MSH:D006029", "SNOMEDCT_US:45154002", "UMLS:C0017979" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0003077": { "name": [ "hyperlipidemia", "hyperlipidemia" ], "alt_id": [ "HP:0008159", "HP:0008356" ], "def": "An elevated lipid concentration in the blood.", "synonym": [ [ "elevated lipids in blood", "elevated lipid in blood" ] ], "xref": [ "MSH:D006949", "SNOMEDCT_US:55822004", "UMLS:C0020473" ], "is_a": [ "HP:0003119" ], "is_obsolete": "", "replace_id": "" }, "HP:0003079": { "name": [ "defective dna repair after ultraviolet radiation damage", "defective dna repair after ultraviolet radiation damage" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1968564" ], "is_a": [ "HP:0003254" ], "is_obsolete": "", "replace_id": "" }, "HP:0003080": { "name": [ "hydroxyprolinuria", "hydroxyprolinuria" ], "alt_id": [], "def": "An increased concentration of 4-hydroxy-L-proline in the urine.", "synonym": [ [ "elevated urinary hydroxyproline", "elevate urinary hydroxyproline" ] ], "xref": [ "UMLS:C0948585" ], "is_a": [ "HP:0033098" ], "is_obsolete": "", "replace_id": "" }, "HP:0003081": { "name": [ "increased urinary potassium", "increase urinary potassium" ], "alt_id": [], "def": "An increased concentration of potassium(1+) in the urine.", "synonym": [ [ "hyperkaliuresis", "hyperkaliuresis" ], [ "increased urinary k", "increase urinary k" ], [ "increased urinary potassium", "increase urinary potassium" ] ], "xref": [ "UMLS:C1846351" ], "is_a": [ "HP:0012598" ], "is_obsolete": "", "replace_id": "" }, "HP:0003083": { "name": [ "dislocated radial head", "dislocate radial head" ], "alt_id": [ "HP:0002975", "HP:0005673", "HP:0005836" ], "def": "A dislocation of the head of the radius from its socket in the elbow joint.", "synonym": [ [ "congenital radial head dislocation", "congenital radial head dislocation" ], [ "dislocated radial heads", "dislocate radial head" ], [ "dislocated radius", "dislocate radius" ], [ "dislocation of radial head", "dislocation of radial head" ], [ "dislocation of the radial head", "dislocation of the radial head" ], [ "radial dislocation", "radial dislocation" ], [ "radial head dislocation", "radial head dislocation" ], [ "radial head dislocation / subluxation", "radial head dislocation / subluxation" ] ], "xref": [ "SNOMEDCT_US:9634000", "UMLS:C0265563" ], "is_a": [ "HP:0003042", "HP:0003995", "HP:0100744" ], "is_obsolete": "", "replace_id": "" }, "HP:0003084": { "name": [ "fractures of the long bones", "fracture of the long bone" ], "alt_id": [ "HP:0005847" ], "def": "An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).", "synonym": [ [ "increased long bone fracture rate", "increase long bone fracture rate" ] ], "xref": [ "UMLS:C0240231" ], "is_a": [ "HP:0002757", "HP:0011314", "HP:0020110" ], "is_obsolete": "", "replace_id": "" }, "HP:0003085": { "name": [ "long fibula", "long fibula" ], "alt_id": [], "def": "Disproportionately long fibulae.", "synonym": [ [ "disproportionately long fibula", "disproportionately long fibula" ], [ "long calf bone", "long calf bone" ], [ "long fibula", "long fibula" ] ], "xref": [ "UMLS:C1848109" ], "is_a": [ "HP:0002991" ], "is_obsolete": "", "replace_id": "" }, "HP:0003086": { "name": [ "acromesomelia", "acromesomelia" ], "alt_id": [], "def": "Small hands and feet.", "synonym": [], "xref": [ "UMLS:C1864365" ], "is_a": [ "HP:0003027" ], "is_obsolete": "", "replace_id": "" }, "HP:0003088": { "name": [ "premature osteoarthritis", "premature osteoarthritis" ], "alt_id": [], "def": "", "synonym": [ [ "premature arthritis", "premature arthritis" ], [ "premature osteoarthritis", "premature osteoarthritis" ] ], "xref": [ "UMLS:C1835121" ], "is_a": [ "HP:0002758" ], "is_obsolete": "", "replace_id": "" }, "HP:0003089": { "name": [ "hamstring contractures", "hamstring contracture" ], "alt_id": [], "def": "", "synonym": [ [ "hamstring contractures", "hamstring contracture" ] ], "xref": [ "SNOMEDCT_US:203074005", "UMLS:C0410266" ], "is_a": [ "HP:0005750" ], "is_obsolete": "", "replace_id": "" }, "HP:0003090": { "name": [ "hypoplasia of the capital femoral epiphysis", "hypoplasia of the capital femoral epiphysis" ], "alt_id": [ "HP:0003374", "HP:0008791", "HP:0008792" ], "def": "Underdevelopment of the proximal epiphysis of the femur.", "synonym": [ [ "small capital femoral epiphyses", "small capital femoral epiphysis" ], [ "small femoral capital epiphyses", "small femoral capital epiphysis" ], [ "small innermost thighbone end part", "small innermost thighbone end part" ], [ "small proximal femoral epiphyses", "small proximal femoral epiphysis" ], [ "underdevelopment of the innermost thighbone end part", "underdevelopment of the innermost thighbone end part" ] ], "xref": [ "UMLS:C1839254" ], "is_a": [ "HP:0005003" ], "is_obsolete": "", "replace_id": "" }, "HP:0003091": { "name": [ "trophic limb changes", "trophic limb change" ], "alt_id": [], "def": "Trophic changes occurring in a limb.", "synonym": [], "xref": [ "UMLS:C4025657" ], "is_a": [ "HP:0010834" ], "is_obsolete": "", "replace_id": "" }, "HP:0003093": { "name": [ "limited hip extension", "limited hip extension" ], "alt_id": [ "HP:0008810" ], "def": "Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward.", "synonym": [ [ "limited hip extension", "limited hip extension" ], [ "restricted hip extension", "restrict hip extension" ] ], "xref": [ "UMLS:C3553368" ], "is_a": [ "HP:0008800" ], "is_obsolete": "", "replace_id": "" }, "HP:0003095": { "name": [ "septic arthritis", "septic arthritis" ], "alt_id": [], "def": "", "synonym": [ [ "infected joint", "infect joint" ] ], "xref": [ "MSH:D001170", "SNOMEDCT_US:372939007", "SNOMEDCT_US:396234004", "UMLS:C0003869", "UMLS:C4280547" ], "is_a": [ "HP:0001369" ], "is_obsolete": "", "replace_id": "" }, "HP:0003097": { "name": [ "short femur", "short femur" ], "alt_id": [ "HP:0009749" ], "def": "An abnormal shortening of the femur.", "synonym": [ [ "femoral hypoplasia", "femoral hypoplasia" ], [ "hypoplasia of the femora", "hypoplasia of the femur" ], [ "short femurs", "short femur" ], [ "short thighbone", "short thighbone" ] ], "xref": [ "SNOMEDCT_US:93255008", "UMLS:C0345375" ], "is_a": [ "HP:0003026", "HP:0005613" ], "is_obsolete": "", "replace_id": "" }, "HP:0003099": { "name": [ "fibular overgrowth", "fibular overgrowth" ], "alt_id": [], "def": "Relatively increased growth of the fibula compared to that of the tibia.", "synonym": [ [ "overgrowth of calf bone", "overgrowth of calf bone" ] ], "xref": [ "UMLS:C1864298" ], "is_a": [ "HP:0002991" ], "is_obsolete": "", "replace_id": "" }, "HP:0003100": { "name": [ "slender long bone", "slender long bone" ], "alt_id": [ "HP:0003060", "HP:0003061", "HP:0003096", "HP:0005064" ], "def": "Reduced diameter of a long bone.", "synonym": [ [ "gracile long bones", "gracile long bone" ], [ "long bones slender", "long bone slender" ], [ "slender long bone", "slender long bone" ], [ "slender long bones", "slender long bone" ], [ "slender , gracile long tubular bones", "slender , gracile long tubular bone" ], [ "thin gracile long bones", "thin gracile long bone" ], [ "thin long bones", "thin long bone" ], [ "thin , gracile long bones", "thin , gracile long bone" ] ], "xref": [ "UMLS:C1833144" ], "is_a": [ "HP:0011314" ], "is_obsolete": "", "replace_id": "" }, "HP:0003102": { "name": [ "increased carrying angle", "increase carry angle" ], "alt_id": [], "def": "An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.", "synonym": [], "xref": [ "UMLS:C1855478" ], "is_a": [ "HP:0009811" ], "is_obsolete": "", "replace_id": "" }, "HP:0003103": { "name": [ "abnormal cortical bone morphology", "abnormal cortical bone morphology" ], "alt_id": [], "def": "An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.", "synonym": [ [ "abnormal compact bone morphology", "abnormal compact bone morphology" ], [ "abnormality of cortical bone", "abnormality of cortical bone" ] ], "xref": [ "UMLS:C4021741" ], "is_a": [ "HP:0003330" ], "is_obsolete": "", "replace_id": "" }, "HP:0003105": { "name": [ "protuberances at ends of long bones", "protuberance at end of long bone" ], "alt_id": [], "def": "The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.", "synonym": [ [ "protuberances at ends of long bones", "protuberance at end of long bone" ] ], "xref": [ "UMLS:C1851418" ], "is_a": [ "HP:0011314" ], "is_obsolete": "", "replace_id": "" }, "HP:0003106": { "name": [ "subperiosteal bone resorption", "subperiosteal bone resorption" ], "alt_id": [], "def": "Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.", "synonym": [ [ "subperiosteal erosions", "subperiosteal erosion" ] ], "xref": [ "UMLS:C1848541" ], "is_a": [ "HP:0002813" ], "is_obsolete": "", "replace_id": "" }, "HP:0003107": { "name": [ "abnormal circulating cholesterol concentration", "abnormal circulate cholesterol concentration" ], "alt_id": [ "HP:0003464" ], "def": "Any deviation from the normal concentration of cholesterol in the blood circulation.", "synonym": [ [ "abnormal cholesterol homeostasis", "abnormal cholesterol homeostasis" ], [ "abnormality of cholesterol metabolism", "abnormality of cholesterol metabolism" ] ], "xref": [ "UMLS:C4025656" ], "is_a": [ "HP:0003119" ], "is_obsolete": "", "replace_id": "" }, "HP:0003108": { "name": [ "hyperglycinuria", "hyperglycinuria" ], "alt_id": [ "HP:0002931" ], "def": "An increased concentration of glycine in the urine.", "synonym": [ [ "glycinuria", "glycinuria" ], [ "high urine glycine levels", "high urine glycine level" ] ], "xref": [ "MSH:C563009", "SNOMEDCT_US:236477004", "UMLS:C0341706", "UMLS:C0543541" ], "is_a": [ "HP:0033099" ], "is_obsolete": "", "replace_id": "" }, "HP:0003109": { "name": [ "hyperphosphaturia", "hyperphosphaturia" ], "alt_id": [ "HP:0003266" ], "def": "An increased excretion of phosphates in the urine.", "synonym": [ [ "high urine phosphate levels", "high urine phosphate level" ], [ "phosphaturia", "phosphaturia" ] ], "xref": [ "SNOMEDCT_US:22450000", "UMLS:C0268079", "UMLS:C0948023" ], "is_a": [ "HP:0012599" ], "is_obsolete": "", "replace_id": "" }, "HP:0003110": { "name": [ "abnormality of urine homeostasis", "abnormality of urine homeostasis" ], "alt_id": [ "HP:0011865", "HP:0011866" ], "def": "An abnormality of the composition of urine or the levels of its components.", "synonym": [ [ "pee issues", "pee issue" ], [ "urine issues", "urine issue" ] ], "xref": [ "UMLS:C4025655" ], "is_a": [ "HP:0001939", "HP:0011277" ], "is_obsolete": "", "replace_id": "" }, "HP:0003111": { "name": [ "abnormal blood ion concentration", "abnormal blood ion concentration" ], "alt_id": [ "HP:0003253" ], "def": "Abnormality of the homeostasis (concentration) of a monoatomic ion.", "synonym": [ [ "abnormality of ion homeostasis", "abnormality of ion homeostasis" ], [ "electrolyte disorders", "electrolyte disorder" ], [ "electrolyte disturbance", "electrolyte disturbance" ] ], "xref": [ "SNOMEDCT_US:237840007", "UMLS:C1704431", "UMLS:C4025654" ], "is_a": [ "HP:0032180" ], "is_obsolete": "", "replace_id": "" }, "HP:0003112": { "name": [ "abnormal circulating amino acid concentration", "abnormal circulate amino acid concentration" ], "alt_id": [], "def": "The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.", "synonym": [ [ "abnormality of serum amino acid level", "abnormality of serum amino acid level" ], [ "abnormality of serum amino acid levels", "abnormality of serum amino acid level" ] ], "xref": [ "UMLS:C4025653" ], "is_a": [ "HP:0004354" ], "is_obsolete": "", "replace_id": "" }, "HP:0003113": { "name": [ "hypochloremia", "hypochloremia" ], "alt_id": [], "def": "An abnormally decreased chloride concentration in the blood.", "synonym": [ [ "low blood chloride levels", "low blood chloride level" ] ], "xref": [ "SNOMEDCT_US:10399008", "UMLS:C0085680", "UMLS:C0595901" ], "is_a": [ "HP:0011422" ], "is_obsolete": "", "replace_id": "" }, "HP:0003114": { "name": [ "obsolete abnormal cardiological findings", "obsolete abnormal cardiological finding" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001626" }, "HP:0003115": { "name": [ "abnormal ekg", "abnormal ekg" ], "alt_id": [], "def": "Abnormal rhythm of the heart.", "synonym": [ [ "abnormal ecg", "abnormal ecg" ], [ "abnormal ekg", "abnormal ekg" ], [ "abnormal electrocardiogram", "abnormal electrocardiogram" ], [ "ekg abnormality", "ekg abnormality" ] ], "xref": [ "SNOMEDCT_US:102594003", "UMLS:C0522055" ], "is_a": [ "HP:0030956", "HP:0500015" ], "is_obsolete": "", "replace_id": "" }, "HP:0003116": { "name": [ "abnormal echocardiogram", "abnormal echocardiogram" ], "alt_id": [], "def": "An abnormality detectable by sonography of the heart (echocardiography).", "synonym": [ [ "abnormal echocardiogram", "abnormal echocardiogram" ], [ "abnormal echocardiography", "abnormal echocardiography" ] ], "xref": [ "SNOMEDCT_US:169241000", "UMLS:C0476369" ], "is_a": [ "HP:0011025", "HP:0500015" ], "is_obsolete": "", "replace_id": "" }, "HP:0003117": { "name": [ "abnormal circulating hormone concentration", "abnormal circulate hormone concentration" ], "alt_id": [], "def": "An abnormal concentration of a hormone in the blood.", "synonym": [ [ "abnormal circulating hormone level", "abnormal circulate hormone level" ], [ "abnormality of circulating hormone level", "abnormality of circulate hormone level" ] ], "xref": [ "UMLS:C4025652" ], "is_a": [ "HP:0000818" ], "is_obsolete": "", "replace_id": "" }, "HP:0003118": { "name": [ "increased circulating cortisol level", "increase circulate cortisol level" ], "alt_id": [ "HP:0000850", "HP:0001578", "HP:0004316" ], "def": "Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.", "synonym": [ [ "cushing syndrome", "cushing syndrome" ], [ "hypercortisolism", "hypercortisolism" ], [ "increased circulating cortisol level", "increase circulate cortisol level" ], [ "increased cortisol production", "increase cortisol production" ] ], "xref": [ "MSH:D000308", "SNOMEDCT_US:237735008", "SNOMEDCT_US:275437005", "SNOMEDCT_US:47270006", "UMLS:C0001622", "UMLS:C0342443", "UMLS:C4025651" ], "is_a": [ "HP:0002717", "HP:0011731" ], "is_obsolete": "", "replace_id": "" }, "HP:0003119": { "name": [ "abnormal circulating lipid concentration", "abnormal circulate lipid concentration" ], "alt_id": [ "HP:0003611" ], "def": "Any deviation from the normal concentration of a lipid in the blood circulation.", "synonym": [ [ "dyslipidaemia", "dyslipidaemia" ], [ "dyslipidemia", "dyslipidemia" ] ], "xref": [ "MSH:D050171", "SNOMEDCT_US:370992007", "UMLS:C0242339", "UMLS:C4025650" ], "is_a": [ "HP:0032180" ], "is_obsolete": "", "replace_id": "" }, "HP:0003121": { "name": [ "limb joint contracture", "limb joint contracture" ], "alt_id": [ "HP:0005631", "HP:0005839" ], "def": "A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.", "synonym": [ [ "limb contractures", "limb contracture" ] ], "xref": [ "UMLS:C1969879" ], "is_a": [ "HP:0001371" ], "is_obsolete": "", "replace_id": "" }, "HP:0003124": { "name": [ "hypercholesterolemia", "hypercholesterolemia" ], "alt_id": [ "HP:0008154", "HP:0008173", "HP:0008359" ], "def": "An increased concentration of cholesterol in the blood.", "synonym": [ [ "elevated serum cholesterol", "elevate serum cholesterol" ], [ "elevated total cholesterol", "elevate total cholesterol" ], [ "high cholesterol", "high cholesterol" ], [ "increased total cholesterol", "increase total cholesterol" ] ], "xref": [ "MSH:D006937", "SNOMEDCT_US:13644009", "SNOMEDCT_US:166830008", "UMLS:C0020443", "UMLS:C0595929" ], "is_a": [ "HP:0003107" ], "is_obsolete": "", "replace_id": "" }, "HP:0003125": { "name": [ "reduced factor viii activity", "reduce factor viii activity" ], "alt_id": [ "HP:0008349", "HP:0008355" ], "def": "Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.", "synonym": [ [ "factor viii deficiency", "factor viii deficiency" ] ], "xref": [ "MSH:D006467", "SNOMEDCT_US:234440005", "UMLS:C3494187", "UMLS:C4025649" ], "is_a": [ "HP:0030976" ], "is_obsolete": "", "replace_id": "" }, "HP:0003126": { "name": [ "low - molecular - weight proteinuria", "low - molecular - weight proteinuria" ], "alt_id": [], "def": "Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).", "synonym": [ [ "tubular proteinuria", "tubular proteinuria" ] ], "xref": [ "UMLS:C1839606" ], "is_a": [ "HP:0000093" ], "is_obsolete": "", "replace_id": "" }, "HP:0003127": { "name": [ "hypocalciuria", "hypocalciuria" ], "alt_id": [], "def": "An abnormally decreased calcium concentration in the urine.", "synonym": [ [ "low urine calcium levels", "low urine calcium level" ] ], "xref": [ "SNOMEDCT_US:86353007", "UMLS:C0020599" ], "is_a": [ "HP:0011280" ], "is_obsolete": "", "replace_id": "" }, "HP:0003128": { "name": [ "lactic acidosis", "lactic acidosis" ], "alt_id": [ "HP:0003255", "HP:0005960" ], "def": "An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.", "synonym": [ [ "hyperlacticacidemia", "hyperlacticacidemia" ], [ "increased lactate in body", "increase lactate in body" ], [ "lactic acidemia", "lactic acidemia" ], [ "lacticacidemia", "lacticacidemia" ], [ "lacticacidosis", "lacticacidosis" ] ], "xref": [ "MSH:D000140", "SNOMEDCT_US:190882007", "SNOMEDCT_US:91273001", "UMLS:C0001125", "UMLS:C0347959" ], "is_a": [ "HP:0001941" ], "is_obsolete": "", "replace_id": "" }, "HP:0003130": { "name": [ "abnormal peripheral myelination", "abnormal peripheral myelination" ], "alt_id": [ "HP:0003408" ], "def": "An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.", "synonym": [], "xref": [ "UMLS:C4025648" ], "is_a": [ "HP:0000759", "HP:0012447" ], "is_obsolete": "", "replace_id": "" }, "HP:0003131": { "name": [ "cystinuria", "cystinuria" ], "alt_id": [], "def": "An increased concentration of cystine in the urine.", "synonym": [ [ "high urine cystine levels", "high urine cystine level" ] ], "xref": [ "MSH:D003555", "SNOMEDCT_US:85020001", "UMLS:C0010691" ], "is_a": [ "HP:0033095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003133": { "name": [ "abnormality of the spinocerebellar tracts", "abnormality of the spinocerebellar tract" ], "alt_id": [], "def": "An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.", "synonym": [], "xref": [ "UMLS:C4025647" ], "is_a": [ "HP:0002143" ], "is_obsolete": "", "replace_id": "" }, "HP:0003134": { "name": [ "abnormality of peripheral nerve conduction", "abnormality of peripheral nerve conduction" ], "alt_id": [ "HP:0006832", "HP:0007186" ], "def": "An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).", "synonym": [ [ "abnormal peripheral nerve transmission", "abnormal peripheral nerve transmission" ], [ "sensory and motor nerve conduction abnormalities", "sensory and motor nerve conduction abnormality" ] ], "xref": [ "UMLS:C4020690" ], "is_a": [ "HP:0030177", "HP:0045010" ], "is_obsolete": "", "replace_id": "" }, "HP:0003137": { "name": [ "prolinuria", "prolinuria" ], "alt_id": [], "def": "An increased concentration of proline in the urine.", "synonym": [], "xref": [ "SNOMEDCT_US:53124003", "UMLS:C0268534" ], "is_a": [ "HP:0033100" ], "is_obsolete": "", "replace_id": "" }, "HP:0003138": { "name": [ "increased blood urea nitrogen", "increase blood urea nitrogen" ], "alt_id": [], "def": "An increased amount of nitrogen in the form of urea in the blood.", "synonym": [ [ "increased blood urea nitrogen", "increase blood urea nitrogen" ], [ "increased bun", "increase bun" ] ], "xref": [ "UMLS:C0151539" ], "is_a": [ "HP:0002157", "HP:0031970" ], "is_obsolete": "", "replace_id": "" }, "HP:0003139": { "name": [ "panhypogammaglobulinemia", "panhypogammaglobulinemia" ], "alt_id": [], "def": "A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.", "synonym": [ [ "panypogammaglobulinemia", "panypogammaglobulinemia" ] ], "xref": [ "UMLS:C1328587" ], "is_a": [ "HP:0004313" ], "is_obsolete": "", "replace_id": "" }, "HP:0003140": { "name": [ "t - wave inversion in the right precordial leads", "t - wave inversion in the right precordial lead" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025646" ], "is_a": [ "HP:0010872" ], "is_obsolete": "", "replace_id": "" }, "HP:0003141": { "name": [ "increased ldl cholesterol concentration", "increase ldl cholesterol concentration" ], "alt_id": [ "HP:0008343" ], "def": "An elevated concentration of low-density lipoprotein cholesterol in the blood.", "synonym": [ [ "hyperbetalipoproteinemia", "hyperbetalipoproteinemia" ], [ "increased beta - lipoproteins", "increase beta - lipoprotein" ], [ "increased circulating ldl level", "increase circulate ldl level" ], [ "increased circulating low - density lipoprotein cholesterol", "increase circulate low - density lipoprotein cholesterol" ], [ "increased circulating low - density lipoprotein levels", "increase circulate low - density lipoprotein level" ], [ "increased ldl cholesterol", "increase ldl cholesterol" ], [ "increased ldlc concentration", "increase ldlc concentration" ], [ "increased plasma ldl levels", "increase plasma ldl level" ] ], "xref": [ "MSH:D006938", "SNOMEDCT_US:190773008", "SNOMEDCT_US:398036000", "UMLS:C0020445", "UMLS:C0549399" ], "is_a": [ "HP:0010980", "HP:0031886" ], "is_obsolete": "", "replace_id": "" }, "HP:0003142": { "name": [ "excessive purine production", "excessive purine production" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025645" ], "is_a": [ "HP:0012337" ], "is_obsolete": "", "replace_id": "" }, "HP:0003144": { "name": [ "increased serum serotonin", "increase serum serotonin" ], "alt_id": [], "def": "A increased concentration of serotonin in the blood.", "synonym": [ [ "increased serum serotonin", "increase serum serotonin" ] ], "xref": [ "UMLS:C0877243" ], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0003145": { "name": [ "decreased adenosylcobalamin", "decrease adenosylcobalamin" ], "alt_id": [], "def": "Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12.", "synonym": [ [ "decreased adocbl", "decrease adocbl" ] ], "xref": [ "UMLS:C1848556" ], "is_a": [ "HP:0040126" ], "is_obsolete": "", "replace_id": "" }, "HP:0003146": { "name": [ "hypocholesterolemia", "hypocholesterolemia" ], "alt_id": [], "def": "An decreased concentration of cholesterol in the blood.", "synonym": [ [ "decreased circulating cholesterol level", "decrease circulate cholesterol level" ] ], "xref": [ "SNOMEDCT_US:61336008", "UMLS:C0151718" ], "is_a": [ "HP:0003107" ], "is_obsolete": "", "replace_id": "" }, "HP:0003148": { "name": [ "elevated serum acid phosphatase", "elevate serum acid phosphatase" ], "alt_id": [], "def": "", "synonym": [ [ "acid phosphatase elevated", "acid phosphatase elevate" ], [ "elevated serum acid phosphatase", "elevate serum acid phosphatase" ] ], "xref": [ "UMLS:C1839866" ], "is_a": [ "HP:0004356" ], "is_obsolete": "", "replace_id": "" }, "HP:0003149": { "name": [ "hyperuricosuria", "hyperuricosuria" ], "alt_id": [], "def": "An abnormally high level of uric acid in the urine.", "synonym": [ [ "high urine uric acid level", "high urine uric acid level" ] ], "xref": [ "UMLS:C0948643" ], "is_a": [ "HP:0004364", "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0003150": { "name": [ "glutaric aciduria", "glutaric aciduria" ], "alt_id": [ "HP:0003490" ], "def": "An increased concentration of glutaric acid in the urine.", "synonym": [ [ "glutarate aciduria", "glutarate aciduria" ], [ "glutaricaciduria", "glutaricaciduria" ], [ "increased glutarate level in urine", "increase glutarate level in urine" ] ], "xref": [ "SNOMEDCT_US:28987007", "UMLS:C0268594" ], "is_a": [ "HP:0003215" ], "is_obsolete": "", "replace_id": "" }, "HP:0003152": { "name": [ "obsolete increased serum 1,25 - dihydroxyvitamin d3", "obsolete increase serum 1,25 - dihydroxyvitamin d3" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0031415" }, "HP:0003153": { "name": [ "cystathioninuria", "cystathioninuria" ], "alt_id": [], "def": "An elevated urinary concentration of cystathionine.", "synonym": [ [ "high urine cystathionine levels", "high urine cystathionine level" ] ], "xref": [ "SNOMEDCT_US:13003007", "UMLS:C0220993" ], "is_a": [ "HP:0033098" ], "is_obsolete": "", "replace_id": "" }, "HP:0003154": { "name": [ "increased circulating acth level", "increase circulate acth level" ], "alt_id": [], "def": "An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.", "synonym": [ [ "high blood corticotropin levels", "high blood corticotropin level" ], [ "increased circulating acth level", "increase circulate acth level" ], [ "increased plasma acth", "increase plasma acth" ] ], "xref": [ "UMLS:C4021740" ], "is_a": [ "HP:0011043" ], "is_obsolete": "", "replace_id": "" }, "HP:0003155": { "name": [ "elevated circulating alkaline phosphatase concentration", "elevate circulate alkaline phosphatase concentration" ], "alt_id": [ "HP:0002911", "HP:0003636", "HP:0008296" ], "def": "Abnormally increased serum levels of alkaline phosphatase activity.", "synonym": [ [ "elevated alkaline phosphatase", "elevate alkaline phosphatase" ], [ "elevated alp", "elevate alp" ], [ "greatly elevated alkaline phosphatase", "greatly elevate alkaline phosphatase" ], [ "high serum alkaline phosphatase", "high serum alkaline phosphatase" ], [ "hyperphosphatasemia", "hyperphosphatasemia" ], [ "hyperphosphatasia", "hyperphosphatasia" ], [ "increased alkaline phosphatase", "increase alkaline phosphatase" ], [ "increased serum alkaline phosphatase", "increase serum alkaline phosphatase" ] ], "xref": [ "UMLS:C0750857" ], "is_a": [ "HP:0004379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003158": { "name": [ "hyposthenuria", "hyposthenuria" ], "alt_id": [], "def": "An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.", "synonym": [ [ "reduced urinary osmolality", "reduce urinary osmolality" ] ], "xref": [ "SNOMEDCT_US:76023003", "UMLS:C0232831" ], "is_a": [ "HP:0033358" ], "is_obsolete": "", "replace_id": "" }, "HP:0003159": { "name": [ "hyperoxaluria", "hyperoxaluria" ], "alt_id": [], "def": "Increased excretion of oxalates in the urine.", "synonym": [ [ "high urine oxalate levels", "high urine oxalate level" ], [ "increased level of oxalate in urine", "increase level of oxalate in urine" ] ], "xref": [ "MSH:D006959", "SNOMEDCT_US:367621000119107", "UMLS:C0020500" ], "is_a": [ "HP:0001992" ], "is_obsolete": "", "replace_id": "" }, "HP:0003160": { "name": [ "abnormal isoelectric focusing of serum transferrin", "abnormal isoelectric focusing of serum transferrin" ], "alt_id": [], "def": "Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.", "synonym": [ [ "abnormal isoelectric focusing of serum transferrin", "abnormal isoelectric focusing of serum transferrin" ], [ "abnormal transferrin isoelectric focusing", "abnormal transferrin isoelectric focusing" ] ], "xref": [ "UMLS:C2749688" ], "is_a": [ "HP:0012347" ], "is_obsolete": "", "replace_id": "" }, "HP:0003161": { "name": [ "4 - hydroxyphenylpyruvic aciduria", "4 - hydroxyphenylpyruvic aciduria" ], "alt_id": [], "def": "Increased concentration of pyruvic acid in the urine.", "synonym": [ [ "hydroxyphenylpyruvic aciduria", "hydroxyphenylpyruvic aciduria" ] ], "xref": [ "UMLS:C1848678" ], "is_a": [ "HP:0040156" ], "is_obsolete": "", "replace_id": "" }, "HP:0003162": { "name": [ "fasting hypoglycemia", "fast hypoglycemia" ], "alt_id": [], "def": "", "synonym": [ [ "low blood sugar when fasting", "low blood sugar when fasting" ] ], "xref": [ "MSH:D007003", "SNOMEDCT_US:6974005", "UMLS:C0271708" ], "is_a": [ "HP:0001943" ], "is_obsolete": "", "replace_id": "" }, "HP:0003163": { "name": [ "elevated urinary delta - aminolevulinic acid", "elevate urinary delta - aminolevulinic acid" ], "alt_id": [], "def": "An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.", "synonym": [ [ "elevated urinary delta - aminolevulinic acid", "elevate urinary delta - aminolevulinic acid" ] ], "xref": [ "UMLS:C1848702" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0003164": { "name": [ "hypothalamic gonadotropin - releasing hormone deficiency", "hypothalamic gonadotropin - release hormone deficiency" ], "alt_id": [], "def": "", "synonym": [ [ "hypothalamic gnrh deficiency", "hypothalamic gnrh deficiency" ] ], "xref": [ "UMLS:C4025644" ], "is_a": [ "HP:0012285", "HP:0500012" ], "is_obsolete": "", "replace_id": "" }, "HP:0003165": { "name": [ "elevated circulating parathyroid hormone level", "elevate circulate parathyroid hormone level" ], "alt_id": [], "def": "An abnormal increased concentration of parathyroid hormone.", "synonym": [ [ "elevated circulating pth level", "elevate circulate pth level" ], [ "elevated serum parathyroid hormone", "elevate serum parathyroid hormone" ], [ "elevated serum parathyroid hormone level", "elevate serum parathyroid hormone level" ], [ "elevated serum pth", "elevate serum pth" ], [ "increased serum parathyroid hormone", "increase serum parathyroid hormone" ] ], "xref": [ "UMLS:C0857973" ], "is_a": [ "HP:0100530" ], "is_obsolete": "", "replace_id": "" }, "HP:0003166": { "name": [ "increased urinary taurine", "increase urinary taurine" ], "alt_id": [], "def": "Increased concentration of taurine in the urine.", "synonym": [ [ "increased urinary taurine", "increase urinary taurine" ] ], "xref": [ "UMLS:C3806447" ], "is_a": [ "HP:0033097" ], "is_obsolete": "", "replace_id": "" }, "HP:0003167": { "name": [ "carnosinuria", "carnosinuria" ], "alt_id": [], "def": "An increased concentration of carnosine in the urine.", "synonym": [ [ "high urine carnosine levels", "high urine carnosine level" ] ], "xref": [ "SNOMEDCT_US:410051001", "UMLS:C3495558" ], "is_a": [ "HP:0033097" ], "is_obsolete": "", "replace_id": "" }, "HP:0003168": { "name": [ "dibasicaminoaciduria", "dibasicaminoaciduria" ], "alt_id": [], "def": "An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His).", "synonym": [], "xref": [ "UMLS:C4025643" ], "is_a": [ "HP:0033100" ], "is_obsolete": "", "replace_id": "" }, "HP:0003170": { "name": [ "abnormal acetabulum morphology", "abnormal acetabulum morphology" ], "alt_id": [], "def": "An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.", "synonym": [ [ "abnormality of the acetabulum", "abnormality of the acetabulum" ], [ "abnormality of the hipbone socket", "abnormality of the hipbone socket" ], [ "acetabular abnormality", "acetabular abnormality" ] ], "xref": [ "UMLS:C4021739" ], "is_a": [ "HP:0001384" ], "is_obsolete": "", "replace_id": "" }, "HP:0003172": { "name": [ "abnormality of the pubic bone", "abnormality of the pubic bone" ], "alt_id": [], "def": "An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone.", "synonym": [ [ "abnormality of the pubic bone", "abnormality of the pubic bone" ], [ "abnormality of the pubic bones", "abnormality of the pubic bone" ], [ "abnormality of the pubis", "abnormality of the pubis" ] ], "xref": [ "UMLS:C4021738" ], "is_a": [ "HP:0003272" ], "is_obsolete": "", "replace_id": "" }, "HP:0003173": { "name": [ "hypoplastic pubic bone", "hypoplastic pubic bone" ], "alt_id": [], "def": "Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.", "synonym": [ [ "hypoplastic pubic bones", "hypoplastic pubic bone" ], [ "hypoplastic pubis", "hypoplastic pubis" ] ], "xref": [ "UMLS:C1865030" ], "is_a": [ "HP:0009104" ], "is_obsolete": "", "replace_id": "" }, "HP:0003174": { "name": [ "abnormality of the ischium", "abnormality of the ischium" ], "alt_id": [], "def": "An anomaly of the ischium, which forms the lower and back part of the hip bone.", "synonym": [ [ "abnormality of the ischial bones", "abnormality of the ischial bone" ], [ "anomaly of the ischium", "anomaly of the ischium" ] ], "xref": [ "SNOMEDCT_US:93008005", "UMLS:C0685661" ], "is_a": [ "HP:0003272" ], "is_obsolete": "", "replace_id": "" }, "HP:0003175": { "name": [ "hypoplastic ischia", "hypoplastic ischia" ], "alt_id": [], "def": "Underdevelopment of the ischium, which forms the lower and back part of the hip bone.", "synonym": [ [ "hypoplastic ischial bones", "hypoplastic ischial bone" ], [ "hypoplastic ischii", "hypoplastic ischii" ], [ "hypoplastic ischium", "hypoplastic ischium" ] ], "xref": [ "UMLS:C1859447" ], "is_a": [ "HP:0003174" ], "is_obsolete": "", "replace_id": "" }, "HP:0003177": { "name": [ "squared iliac bones", "square iliac bone" ], "alt_id": [], "def": "A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.", "synonym": [ [ "square iliac bones", "square iliac bone" ], [ "squaring of iliac bones", "squaring of iliac bone" ] ], "xref": [ "UMLS:C1838186" ], "is_a": [ "HP:0002867" ], "is_obsolete": "", "replace_id": "" }, "HP:0003179": { "name": [ "protrusio acetabuli", "protrusio acetabuli" ], "alt_id": [], "def": "Intrapelvic bulging of the medial acetabular wall.", "synonym": [ [ "abnormally indented hip sockets", "abnormally indent hip socket" ], [ "protrusio acetabulae", "protrusio acetabulae" ] ], "xref": [ "SNOMEDCT_US:59606006", "UMLS:C0409495" ], "is_a": [ "HP:0003170" ], "is_obsolete": "", "replace_id": "" }, "HP:0003180": { "name": [ "flat acetabular roof", "flat acetabular roof" ], "alt_id": [ "HP:0003171", "HP:0008832", "HP:0008834" ], "def": "Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.", "synonym": [ [ "flat acetabular roofs", "flat acetabular roof" ], [ "flattened acetabular roof", "flatten acetabular roof" ], [ "horizontal acetabulae", "horizontal acetabulae" ], [ "horizontal acetabular roof", "horizontal acetabular roof" ], [ "horizontal acetabular roofs", "horizontal acetabular roof" ] ], "xref": [ "UMLS:C1837485" ], "is_a": [ "HP:0003170" ], "is_obsolete": "", "replace_id": "" }, "HP:0003182": { "name": [ "shallow acetabular fossae", "shallow acetabular fossa" ], "alt_id": [], "def": "", "synonym": [ [ "shallow acetabula", "shallow acetabulum" ], [ "shallow acetabulae", "shallow acetabulae" ], [ "shallow acetabular fossa", "shallow acetabular fossa" ], [ "shallow acetabulum", "shallow acetabulum" ] ], "xref": [ "UMLS:C1854910", "UMLS:C1860796" ], "is_a": [ "HP:0003170" ], "is_obsolete": "", "replace_id": "" }, "HP:0003183": { "name": [ "wide pubic symphysis", "wide pubic symphysis" ], "alt_id": [], "def": "Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.", "synonym": [ [ "wide symphysis of pubis", "wide symphysis of pubis" ] ], "xref": [ "UMLS:C1857190" ], "is_a": [ "HP:0003172" ], "is_obsolete": "", "replace_id": "" }, "HP:0003184": { "name": [ "decreased hip abduction", "decrease hip abduction" ], "alt_id": [], "def": "Reduced ability to move the femur outward to the side.", "synonym": [ [ "limited hip abduction", "limited hip abduction" ] ], "xref": [ "UMLS:C1836589" ], "is_a": [ "HP:0008800" ], "is_obsolete": "", "replace_id": "" }, "HP:0003185": { "name": [ "short greater sciatic notch", "short great sciatic notch" ], "alt_id": [ "HP:0008815" ], "def": "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.", "synonym": [ [ "short sacroiliac notch", "short sacroiliac notch" ], [ "shortened sacroiliac notches", "shorten sacroiliac notch" ], [ "small sacroiliac notch", "small sacroiliac notch" ] ], "xref": [ "UMLS:C1866689" ], "is_a": [ "HP:0010456" ], "is_obsolete": "", "replace_id": "" }, "HP:0003186": { "name": [ "inverted nipples", "inverted nipple" ], "alt_id": [], "def": "The presence of nipples that instead of pointing outward are retracted inwards.", "synonym": [ [ "invaginated nipples", "invaginated nipple" ], [ "inverted nipples", "inverted nipple" ] ], "xref": [ "SNOMEDCT_US:82231009", "UMLS:C0269269" ], "is_a": [ "HP:0004404" ], "is_obsolete": "", "replace_id": "" }, "HP:0003187": { "name": [ "breast hypoplasia", "breast hypoplasia" ], "alt_id": [ "HP:0000784" ], "def": "Underdevelopment of the breast.", "synonym": [ [ "underdeveloped breasts", "underdeveloped breast" ] ], "xref": [ "SNOMEDCT_US:8915006", "UMLS:C0266013" ], "is_a": [ "HP:0010311" ], "is_obsolete": "", "replace_id": "" }, "HP:0003189": { "name": [ "long nose", "long nose" ], "alt_id": [ "HP:0005283", "HP:0200142" ], "def": "Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.", "synonym": [ [ "elongated nose", "elongate nose" ], [ "increased height of nose", "increase height of nose" ], [ "increased length of nose", "increased length of nose" ], [ "increased nasal height", "increase nasal height" ], [ "increased nasal length", "increase nasal length" ], [ "long nose", "long nose" ], [ "nasal elongation", "nasal elongation" ] ], "xref": [ "UMLS:C1839798" ], "is_a": [ "HP:0005105" ], "is_obsolete": "", "replace_id": "" }, "HP:0003191": { "name": [ "cleft ala nasi", "cleft ala nasi" ], "alt_id": [ "HP:0004412" ], "def": "The presence of a notch in the margin of the ala nasi.", "synonym": [ [ "ala nasi , cleft", "ala nasi , cleft" ], [ "alar clefts", "alar cleft" ], [ "cleft nasal alae", "cleft nasal ala" ], [ "cleft nostril", "cleft nostril" ], [ "nostril coloboma", "nostril coloboma" ], [ "notched nasal alae", "notch nasal ala" ] ], "xref": [ "UMLS:C1844537" ], "is_a": [ "HP:0000429" ], "is_obsolete": "", "replace_id": "" }, "HP:0003193": { "name": [ "allergic rhinitis", "allergic rhinitis" ], "alt_id": [], "def": "It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.", "synonym": [ [ "hay fever", "hay fever" ], [ "hayfever", "hayfever" ], [ "nasal allergies", "nasal allergy" ] ], "xref": [ "MSH:D065631", "SNOMEDCT_US:61582004", "UMLS:C0847614", "UMLS:C2607914" ], "is_a": [ "HP:0012384", "HP:0012393" ], "is_obsolete": "", "replace_id": "" }, "HP:0003194": { "name": [ "short nasal bridge", "short nasal bridge" ], "alt_id": [], "def": "Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.", "synonym": [ [ "decreased length of bridge of nose", "decreased length of bridge of nose" ], [ "decreased length of nasal bridge", "decreased length of nasal bridge" ], [ "short bridge of nose", "short bridge of nose" ], [ "short nasal bridge", "short nasal bridge" ] ], "xref": [ "UMLS:C1854689" ], "is_a": [ "HP:0000422" ], "is_obsolete": "", "replace_id": "" }, "HP:0003196": { "name": [ "short nose", "short nose" ], "alt_id": [ "HP:0000440", "HP:0000449", "HP:0000450", "HP:0003192", "HP:0003195", "HP:0005270", "HP:0200092" ], "def": "Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.", "synonym": [ [ "decreased length of nose", "decreased length of nose" ], [ "hypoplastic nose", "hypoplastic nose" ], [ "nasal hypoplasia", "nasal hypoplasia" ], [ "short nose", "short nose" ], [ "shortened nose", "shorten nose" ], [ "small nose", "small nose" ] ], "xref": [ "SNOMEDCT_US:249310005", "UMLS:C0426414", "UMLS:C1854114" ], "is_a": [ "HP:0005105" ], "is_obsolete": "", "replace_id": "" }, "HP:0003198": { "name": [ "myopathy", "myopathy" ], "alt_id": [ "HP:0003569", "HP:0003705", "HP:0003742", "HP:0003802" ], "def": "A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.", "synonym": [ [ "muscle tissue disease", "muscle tissue disease" ], [ "myopathic changes", "myopathic change" ] ], "xref": [ "MSH:D009135", "SNOMEDCT_US:129565002", "UMLS:C0026848" ], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0003199": { "name": [ "decreased muscle mass", "decreased muscle mass" ], "alt_id": [ "HP:0003732" ], "def": "", "synonym": [ [ "decreased muscle mass", "decreased muscle mass" ] ], "xref": [ "UMLS:C1837108" ], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0003200": { "name": [ "ragged - red muscle fibers", "rag - red muscle fiber" ], "alt_id": [ "HP:0009076" ], "def": "An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.", "synonym": [ [ "mitochondrial proliferation in muscle tissue", "mitochondrial proliferation in muscle tissue" ], [ "ragged red muscle fibers", "rag red muscle fiber" ], [ "ragged red muscle fibres", "rag red muscle fibre" ], [ "ragged - red fibers", "rag - red fiber" ], [ "ragged - red fibres", "rag - red fibre" ], [ "ragged - red muscle fibres", "rag - red muscle fibre" ] ], "xref": [ "UMLS:C3275417" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0003201": { "name": [ "rhabdomyolysis", "rhabdomyolysis" ], "alt_id": [], "def": "Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.", "synonym": [ [ "breakdown of skeletal muscle", "breakdown of skeletal muscle" ] ], "xref": [ "MSH:D012206", "SNOMEDCT_US:240131006", "SNOMEDCT_US:89010004", "UMLS:C0035410" ], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0003202": { "name": [ "skeletal muscle atrophy", "skeletal muscle atrophy" ], "alt_id": [ "HP:0001299", "HP:0003545", "HP:0003671", "HP:0003702", "HP:0003746", "HP:0006995", "HP:0007171", "HP:0007356", "HP:0009010", "HP:0009048", "HP:0100868" ], "def": "The presence of skeletal muscular atrophy (which is also known as amyotrophy).", "synonym": [ [ "amyotrophy", "amyotrophy" ], [ "amyotrophy involving the extremities", "amyotrophy involve the extremity" ], [ "muscle atrophy", "muscle atrophy" ], [ "muscle atrophy , neurogenic", "muscle atrophy , neurogenic" ], [ "muscle degeneration", "muscle degeneration" ], [ "muscle hypotrophy", "muscle hypotrophy" ], [ "muscle wasting", "muscle waste" ], [ "muscular atrophy", "muscular atrophy" ], [ "neurogenic muscle atrophy", "neurogenic muscle atrophy" ], [ "neurogenic muscle atrophy , especially in the lower limbs", "neurogenic muscle atrophy , especially in the low limb" ], [ "neurogenic muscular atrophy", "neurogenic muscular atrophy" ] ], "xref": [ "MSH:D009133", "SNOMEDCT_US:74035001", "UMLS:C0234958", "UMLS:C0270948", "UMLS:C0541794", "UMLS:C1843479" ], "is_a": [ "HP:0030236" ], "is_obsolete": "", "replace_id": "" }, "HP:0003203": { "name": [ "impaired oxidative burst", "impaired oxidative burst" ], "alt_id": [], "def": "In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.", "synonym": [ [ "negative nbt reduction test", "negative nbt reduction test" ], [ "negative nitroblue tetrazolium reduction test", "negative nitroblue tetrazolium reduction test" ] ], "xref": [ "UMLS:C4280805" ], "is_a": [ "HP:0011993" ], "is_obsolete": "", "replace_id": "" }, "HP:0003204": { "name": [ "intracellular accumulation of autofluorescent lipopigment storage material", "intracellular accumulation of autofluorescent lipopigment storage material" ], "alt_id": [], "def": "The intracellular accumulation of autofluorescent storage material.", "synonym": [], "xref": [ "UMLS:C4025642" ], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:0003205": { "name": [ "curvilinear intracellular accumulation of autofluorescent lipopigment storage material", "curvilinear intracellular accumulation of autofluorescent lipopigment storage material" ], "alt_id": [], "def": "An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.", "synonym": [ [ "'curvilinear profiles ' ultrastructurally", "'curvilinear profile ' ultrastructurally" ], [ "'curvilinear profiles ' ultrastructurally in cells", "'curvilinear profile ' ultrastructurally in cell" ], [ "curvilinear profiles ultrastructurally", "curvilinear profile ultrastructurally" ], [ "intracellular curvilinear profiles on ultrastructural analysis", "intracellular curvilinear profile on ultrastructural analysis" ] ], "xref": [ "UMLS:C1836852" ], "is_a": [ "HP:0003204" ], "is_obsolete": "", "replace_id": "" }, "HP:0003206": { "name": [ "decreased activity of nadph oxidase", "decreased activity of nadph oxidase" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1844394" ], "is_a": [ "HP:0004358" ], "is_obsolete": "", "replace_id": "" }, "HP:0003207": { "name": [ "arterial calcification", "arterial calcification" ], "alt_id": [ "HP:0012455" ], "def": "Pathological deposition of calcium salts in one or more arteries.", "synonym": [], "xref": [ "UMLS:C1168153" ], "is_a": [ "HP:0004934", "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:0003208": { "name": [ "fingerprint intracellular accumulation of autofluorescent lipopigment storage material", "fingerprint intracellular accumulation of autofluorescent lipopigment storage material" ], "alt_id": [], "def": "An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.", "synonym": [ [ "'fingerprint profiles ' ultrastructurally in cells", "'fingerprint profile ' ultrastructurally in cell" ], [ "fingerprint profiles ultrastructurally", "fingerprint profile ultrastructurally" ] ], "xref": [ "UMLS:C1836851" ], "is_a": [ "HP:0003204" ], "is_obsolete": "", "replace_id": "" }, "HP:0003209": { "name": [ "decreased pyruvate carboxylase activity", "decrease pyruvate carboxylase activity" ], "alt_id": [], "def": "A decreased rate of pyruvate carboxylase activity.", "synonym": [], "xref": [ "UMLS:C4025641" ], "is_a": [ "HP:0000816" ], "is_obsolete": "", "replace_id": "" }, "HP:0003210": { "name": [ "decreased methylmalonyl - coa mutase activity", "decrease methylmalonyl - coa mutase activity" ], "alt_id": [], "def": "An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.", "synonym": [ [ "decreased methylmalonyl coa mutase activity", "decrease methylmalonyl coa mutase activity" ] ], "xref": [ "UMLS:C1848579" ], "is_a": [ "HP:0000816" ], "is_obsolete": "", "replace_id": "" }, "HP:0003212": { "name": [ "increased circulating ige level", "increase circulate ige level" ], "alt_id": [ "HP:0005382", "HP:0005418", "HP:0005433" ], "def": "An abnormally increased overall level of immunoglobulin E in blood.", "synonym": [ [ "elevated immunoglobulin e", "elevate immunoglobulin e" ], [ "elevated serum ige", "elevate serum ige" ], [ "high immunoglobulin e", "high immunoglobulin e" ] ], "xref": [ "UMLS:C0236175" ], "is_a": [ "HP:0010702", "HP:0410241" ], "is_obsolete": "", "replace_id": "" }, "HP:0003213": { "name": [ "deficient excision of uv - induced pyrimidine dimers in dna", "deficient excision of uv - induced pyrimidine dimer in dna" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025640" ], "is_a": [ "HP:0003254" ], "is_obsolete": "", "replace_id": "" }, "HP:0003214": { "name": [ "prolonged g2 phase of cell cycle", "prolonged g2 phase of cell cycle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025639" ], "is_a": [ "HP:0011018" ], "is_obsolete": "", "replace_id": "" }, "HP:0003215": { "name": [ "dicarboxylic aciduria", "dicarboxylic aciduria" ], "alt_id": [], "def": "An increased concentration of dicarboxylic acid in the urine.", "synonym": [], "xref": [ "UMLS:C1856432" ], "is_a": [ "HP:0001992" ], "is_obsolete": "", "replace_id": "" }, "HP:0003216": { "name": [ "generalized amyloid deposition", "generalize amyloid deposition" ], "alt_id": [], "def": "A diffuse form of amyloidosis.", "synonym": [ [ "generalised amyloid deposition", "generalise amyloid deposition" ] ], "xref": [ "UMLS:C1862968" ], "is_a": [ "HP:0011034" ], "is_obsolete": "", "replace_id": "" }, "HP:0003217": { "name": [ "hyperglutaminemia", "hyperglutaminemia" ], "alt_id": [], "def": "An increased concentration of glutamine in the blood.", "synonym": [ [ "high plasma glutamine", "high plasma glutamine" ] ], "xref": [ "UMLS:C1839533" ], "is_a": [ "HP:0010903" ], "is_obsolete": "", "replace_id": "" }, "HP:0003218": { "name": [ "oroticaciduria", "oroticaciduria" ], "alt_id": [ "HP:0000810", "HP:0010928" ], "def": "An increased concentration of orotic acid in the urine.", "synonym": [ [ "high urine orotic acid levels", "high urine orotic acid level" ], [ "increased urinary orotic acid concentration", "increase urinary orotic acid concentration" ], [ "orotic aciduria", "orotic aciduria" ] ], "xref": [ "SNOMEDCT_US:124277009", "SNOMEDCT_US:47641009", "UMLS:C0268128" ], "is_a": [ "HP:0031980" ], "is_obsolete": "", "replace_id": "" }, "HP:0003219": { "name": [ "ethylmalonic aciduria", "ethylmalonic aciduria" ], "alt_id": [], "def": "An increased concentration of ethylmalonic acid in the urine.", "synonym": [], "xref": [ "UMLS:C1865353" ], "is_a": [ "HP:0003215" ], "is_obsolete": "", "replace_id": "" }, "HP:0003220": { "name": [ "abnormality of chromosome stability", "abnormality of chromosome stability" ], "alt_id": [ "HP:0002915", "HP:0008307" ], "def": "A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration.", "synonym": [], "xref": [ "MSH:D019457", "UMLS:C0376628", "UMLS:C1859424" ], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:0003221": { "name": [ "chromosomal breakage induced by crosslinking agents", "chromosomal breakage induce by crosslinking agent" ], "alt_id": [], "def": "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.", "synonym": [ [ "chromosomal breakage induced by diepoxybutane", "chromosomal breakage induce by diepoxybutane" ], [ "chromosomal breakage induced by mitomycin c", "chromosomal breakage induce by mitomycin c" ] ], "xref": [ "UMLS:C4021737" ], "is_a": [ "HP:0040012" ], "is_obsolete": "", "replace_id": "" }, "HP:0003223": { "name": [ "decreased methylcobalamin", "decrease methylcobalamin" ], "alt_id": [ "HP:0008287" ], "def": "Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12.", "synonym": [ [ "methylcobalamin deficiency", "methylcobalamin deficiency" ] ], "xref": [ "UMLS:C4021736" ], "is_a": [ "HP:0040126" ], "is_obsolete": "", "replace_id": "" }, "HP:0003224": { "name": [ "increased cellular sensitivity to uv light", "increase cellular sensitivity to uv light" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1857707" ], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:0003225": { "name": [ "reduced coagulation factor v activity", "reduce coagulation factor v activity" ], "alt_id": [], "def": "Decreased activity of coagulation factor V.", "synonym": [ [ "factor v deficiency", "factor v deficiency" ], [ "reduced factor v activity", "reduce factor v activity" ] ], "xref": [ "MSH:D005166", "SNOMEDCT_US:4320005", "SNOMEDCT_US:88776002", "UMLS:C0015499" ], "is_a": [ "HP:0031899" ], "is_obsolete": "", "replace_id": "" }, "HP:0003226": { "name": [ "rectilinear intracellular accumulation of autofluorescent lipopigment storage material", "rectilinear intracellular accumulation of autofluorescent lipopigment storage material" ], "alt_id": [], "def": "An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.", "synonym": [ [ "rectilinear profiles ultrastructurally", "rectilinear profile ultrastructurally" ] ], "xref": [ "UMLS:C1850447" ], "is_a": [ "HP:0003204" ], "is_obsolete": "", "replace_id": "" }, "HP:0003228": { "name": [ "hypernatremia", "hypernatremia" ], "alt_id": [], "def": "An abnormally increased sodium concentration in the blood.", "synonym": [ [ "high blood sodium levels", "high blood sodium level" ] ], "xref": [ "MSH:D006955", "SNOMEDCT_US:286926003", "SNOMEDCT_US:39355002", "UMLS:C0020488" ], "is_a": [ "HP:0010931" ], "is_obsolete": "", "replace_id": "" }, "HP:0003231": { "name": [ "hypertyrosinemia", "hypertyrosinemia" ], "alt_id": [], "def": "An increased concentration of tyrosine in the blood.", "synonym": [ [ "increased tyrosine in blood", "increase tyrosine in blood" ], [ "tyrosinemia", "tyrosinemia" ] ], "xref": [ "SNOMEDCT_US:56595005", "UMLS:C1879362" ], "is_a": [ "HP:0010917" ], "is_obsolete": "", "replace_id": "" }, "HP:0003232": { "name": [ "mitochondrial malic enzyme reduced", "mitochondrial malic enzyme reduce" ], "alt_id": [], "def": "", "synonym": [ [ "decreased mitochondrial malic enzyme", "decrease mitochondrial malic enzyme" ] ], "xref": [ "UMLS:C1856697" ], "is_a": [ "HP:0003287" ], "is_obsolete": "", "replace_id": "" }, "HP:0003233": { "name": [ "decreased hdl cholesterol concentration", "decrease hdl cholesterol concentration" ], "alt_id": [], "def": "An decreased concentration of high-density lipoprotein cholesterol in the blood.", "synonym": [ [ "decreased circulating high - density lipoprotein cholesterol", "decrease circulate high - density lipoprotein cholesterol" ], [ "decreased circulating high - density lipoprotein levels", "decrease circulate high - density lipoprotein level" ], [ "decreased hdl cholesterol", "decrease hdl cholesterol" ], [ "hypoalphalipoproteinemia", "hypoalphalipoproteinemia" ], [ "low hdl - cholesterol", "low hdl - cholesterol" ] ], "xref": [ "MSH:D052456", "SNOMEDCT_US:190785000", "UMLS:C0151691", "UMLS:C0473527" ], "is_a": [ "HP:0010981", "HP:0031888" ], "is_obsolete": "", "replace_id": "" }, "HP:0003234": { "name": [ "decreased plasma carnitine", "decrease plasma carnitine" ], "alt_id": [], "def": "A decreased concentration of carnitine in the blood.", "synonym": [ [ "carnitine deficiency", "carnitine deficiency" ], [ "decreased plasma carnitine", "decrease plasma carnitine" ] ], "xref": [ "SNOMEDCT_US:421784001", "UMLS:C1142132" ], "is_a": [ "HP:0003287", "HP:0010967" ], "is_obsolete": "", "replace_id": "" }, "HP:0003235": { "name": [ "hypermethioninemia", "hypermethioninemia" ], "alt_id": [], "def": "An increased concentration of methionine in the blood.", "synonym": [ [ "increased methionine in blood", "increase methionine in blood" ], [ "methioninemia", "methioninemia" ] ], "xref": [ "MSH:C564683", "SNOMEDCT_US:124283007", "SNOMEDCT_US:43123004", "SNOMEDCT_US:57835009", "UMLS:C0268621" ], "is_a": [ "HP:0010901" ], "is_obsolete": "", "replace_id": "" }, "HP:0003236": { "name": [ "elevated circulating creatine kinase concentration", "elevate circulate creatine kinase concentration" ], "alt_id": [ "HP:0002147", "HP:0002906", "HP:0003078", "HP:0003525", "HP:0003531", "HP:0008164" ], "def": "An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.", "synonym": [ [ "elevated blood creatine phosphokinase", "elevate blood creatine phosphokinase" ], [ "elevated circulating creatine phosphokinase", "elevate circulate creatine phosphokinase" ], [ "elevated creatine kinase", "elevate creatine kinase" ], [ "elevated serum cpk", "elevate serum cpk" ], [ "elevated serum creatine kinase", "elevate serum creatine kinase" ], [ "elevated serum creatine phosphokinase", "elevate serum creatine phosphokinase" ], [ "high serum creatine kinase", "high serum creatine kinase" ], [ "increased cpk", "increase cpk" ], [ "increased creatine kinase", "increase creatine kinase" ], [ "increased creatine phosphokinase", "increase creatine phosphokinase" ], [ "increased serum ck", "increase serum ck" ], [ "increased serum creatine kinase", "increase serum creatine kinase" ], [ "increased serum creatine phosphokinase", "increase serum creatine phosphokinase" ] ], "xref": [ "UMLS:C0151576", "UMLS:C0241005" ], "is_a": [ "HP:0040081" ], "is_obsolete": "", "replace_id": "" }, "HP:0003237": { "name": [ "increased circulating igg level", "increase circulate igg level" ], "alt_id": [], "def": "An abnormally increased level of immunoglobulin G in blood.", "synonym": [ [ "increased igg level", "increase igg level" ], [ "increased levels of igg", "increased level of igg" ], [ "increased total igg in blood", "increase total igg in blood" ] ], "xref": [ "UMLS:C1858977" ], "is_a": [ "HP:0010702", "HP:0410242" ], "is_obsolete": "", "replace_id": "" }, "HP:0003238": { "name": [ "hyperpepsinogenemia i", "hyperpepsinogenemia i" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025638" ], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0003239": { "name": [ "phosphoethanolaminuria", "phosphoethanolaminuria" ], "alt_id": [], "def": "An increased concentration of phosphoethanolamine in the urine.", "synonym": [ [ "high urine phosphoethanolamine levels", "high urine phosphoethanolamine level" ] ], "xref": [ "MSH:C562646", "SNOMEDCT_US:55236002", "UMLS:C0268412" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0003240": { "name": [ "increased phosphoribosylpyrophosphate synthetase level", "increase phosphoribosylpyrophosphate synthetase level" ], "alt_id": [], "def": "Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.", "synonym": [ [ "increased phosphoribosyl pyrophosphate synthetase activity", "increase phosphoribosyl pyrophosphate synthetase activity" ], [ "increased prps1 activity", "increase prps1 activity" ] ], "xref": [ "UMLS:C4025637" ], "is_a": [ "HP:0032459" ], "is_obsolete": "", "replace_id": "" }, "HP:0003241": { "name": [ "external genital hypoplasia", "external genital hypoplasia" ], "alt_id": [ "HP:0000788", "HP:0003245" ], "def": "Underdevelopment of part or all of the external reproductive organs.", "synonym": [ [ "hypogenitalism", "hypogenitalism" ], [ "small genitalia", "small genitalia" ], [ "underdevelopment of external reproductive organs", "underdevelopment of external reproductive organ" ] ], "xref": [ "UMLS:C1855333" ], "is_a": [ "HP:0000811" ], "is_obsolete": "", "replace_id": "" }, "HP:0003244": { "name": [ "penile hypospadias", "penile hypospadias" ], "alt_id": [], "def": "Location of the urethral opening on the inferior aspect of the penis.", "synonym": [], "xref": [ "SNOMEDCT_US:204888000", "UMLS:C1691215" ], "is_a": [ "HP:0000047" ], "is_obsolete": "", "replace_id": "" }, "HP:0003246": { "name": [ "prominent scrotal raphe", "prominent scrotal raphe" ], "alt_id": [], "def": "Increased size of the ridge of tissue that extends along the midline of the scrotum.", "synonym": [ [ "prominent perineal raphe", "prominent perineal raphe" ] ], "xref": [ "UMLS:C1852407" ], "is_a": [ "HP:0000045" ], "is_obsolete": "", "replace_id": "" }, "HP:0003247": { "name": [ "overgrowth of external genitalia", "overgrowth of external genitalia" ], "alt_id": [], "def": "", "synonym": [ [ "overgrowth of external genitalia", "overgrowth of external genitalia" ] ], "xref": [ "UMLS:C1851722" ], "is_a": [ "HP:0000811" ], "is_obsolete": "", "replace_id": "" }, "HP:0003248": { "name": [ "gonadal tissue inappropriate for external genitalia or chromosomal sex", "gonadal tissue inappropriate for external genitalia or chromosomal sex" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1860268" ], "is_a": [ "HP:0000062" ], "is_obsolete": "", "replace_id": "" }, "HP:0003249": { "name": [ "genital ulcers", "genital ulcer" ], "alt_id": [], "def": "", "synonym": [ [ "genital ulcers", "genital ulcer" ] ], "xref": [ "UMLS:C0151281" ], "is_a": [ "HP:0012243" ], "is_obsolete": "", "replace_id": "" }, "HP:0003250": { "name": [ "aplasia of the vagina", "aplasia of the vagina" ], "alt_id": [ "HP:0008709" ], "def": "Aplasia of the vagina.", "synonym": [ [ "absent vagina", "absent vagina" ], [ "congenital absence of the vagina", "congenital absence of the vagina" ] ], "xref": [ "MSH:C536523", "SNOMEDCT_US:248871003", "SNOMEDCT_US:87380008", "UMLS:C0220763", "UMLS:C1321884", "UMLS:C1841990" ], "is_a": [ "HP:0011026" ], "is_obsolete": "", "replace_id": "" }, "HP:0003251": { "name": [ "male infertility", "male infertility" ], "alt_id": [], "def": "", "synonym": [ [ "male infertility", "male infertility" ] ], "xref": [ "MSH:D007248", "SNOMEDCT_US:2904007", "UMLS:C0021364" ], "is_a": [ "HP:0000789", "HP:0012041" ], "is_obsolete": "", "replace_id": "" }, "HP:0003252": { "name": [ "anteriorly displaced genitalia", "anteriorly displace genitalia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1848653" ], "is_a": [ "HP:0012243" ], "is_obsolete": "", "replace_id": "" }, "HP:0003254": { "name": [ "abnormality of dna repair", "abnormality of dna repair" ], "alt_id": [], "def": "An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage.", "synonym": [], "xref": [ "UMLS:C4021848" ], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:0003256": { "name": [ "abnormality of the coagulation cascade", "abnormality of the coagulation cascade" ], "alt_id": [ "HP:0001925" ], "def": "An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.", "synonym": [ [ "coagulopathy", "coagulopathy" ] ], "xref": [ "MSH:D001778", "SNOMEDCT_US:362970003", "SNOMEDCT_US:64779008", "UMLS:C0005779" ], "is_a": [ "HP:0001928" ], "is_obsolete": "", "replace_id": "" }, "HP:0003258": { "name": [ "glyoxalase deficiency", "glyoxalase deficiency" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3279658" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003259": { "name": [ "elevated circulating creatinine concentration", "elevate circulate creatinine concentration" ], "alt_id": [ "HP:0003227" ], "def": "An increased amount of creatinine in the blood.", "synonym": [ [ "elevated creatinine", "elevate creatinine" ], [ "elevated serum creatinine", "elevate serum creatinine" ], [ "high blood creatinine level", "high blood creatinine level" ], [ "increased creatinine", "increase creatinine" ], [ "increased serum creatinine", "increase serum creatinine" ] ], "xref": [ "SNOMEDCT_US:166717003", "UMLS:C0700225" ], "is_a": [ "HP:0002157", "HP:0012100" ], "is_obsolete": "", "replace_id": "" }, "HP:0003260": { "name": [ "hydroxyprolinemia", "hydroxyprolinemia" ], "alt_id": [], "def": "An increased concentration of hydroxyproline in the blood.", "synonym": [ [ "high blood hydroxyproline levels", "high blood hydroxyproline level" ] ], "xref": [ "MSH:C562669", "SNOMEDCT_US:25739007", "UMLS:C0268531" ], "is_a": [ "HP:0010907" ], "is_obsolete": "", "replace_id": "" }, "HP:0003261": { "name": [ "increased circulating iga level", "increase circulate iga level" ], "alt_id": [ "HP:0004436", "HP:0005351", "HP:0005417" ], "def": "An abnormally increased level of immunoglobulin A in blood.", "synonym": [ [ "elevated iga", "elevate iga" ], [ "elevated serum iga", "elevate serum iga" ], [ "iga hypergammaglobulinemia", "iga hypergammaglobulinemia" ], [ "increased levels of iga", "increased level of iga" ], [ "increased serum iga", "increase serum iga" ] ], "xref": [ "UMLS:C0239984" ], "is_a": [ "HP:0010702", "HP:0410240" ], "is_obsolete": "", "replace_id": "" }, "HP:0003262": { "name": [ "smooth muscle antibody positivity", "smooth muscle antibody positivity" ], "alt_id": [], "def": "The presence in serum of antibodies against smooth muscle.", "synonym": [ [ "anti - smooth muscle antibody positivity", "anti - smooth muscle antibody positivity" ], [ "smooth muscle antibody positive", "smooth muscle antibody positive" ] ], "xref": [ "SNOMEDCT_US:310290006", "UMLS:C0241185" ], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0003264": { "name": [ "deficiency of n - acetylglucosamine - 1 - phosphotransferase", "deficiency of n - acetylglucosamine - 1 - phosphotransferase" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D009081", "SNOMEDCT_US:70199000", "UMLS:C0020725" ], "is_a": [ "HP:0004356" ], "is_obsolete": "", "replace_id": "" }, "HP:0003265": { "name": [ "neonatal hyperbilirubinemia", "neonatal hyperbilirubinemia" ], "alt_id": [ "HP:0008152" ], "def": "A type of hyperbilirubinemia with neonatal onset.", "synonym": [ [ "high blood bilirubin levels in neonate", "high blood bilirubin level in neonate" ], [ "hyperbilirubinemia , neonatal", "hyperbilirubinemia , neonatal" ] ], "xref": [ "MSH:D051556", "SNOMEDCT_US:281610001", "UMLS:C0857007" ], "is_a": [ "HP:0002904" ], "is_obsolete": "", "replace_id": "" }, "HP:0003267": { "name": [ "reduced orotidine 5 - prime phosphate decarboxylase level", "reduce orotidine 5 - prime phosphate decarboxylase level" ], "alt_id": [], "def": "An abnormal decrease in orotidine 5'-phosphate decarboxylase level.", "synonym": [ [ "orotidine - 5 - prime - phosphate decarboxylase defect", "orotidine - 5 - prime - phosphate decarboxylase defect" ] ], "xref": [ "UMLS:C4020845", "UMLS:C4025636" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003268": { "name": [ "argininuria", "argininuria" ], "alt_id": [], "def": "A increased concentration of arginine in the urine.", "synonym": [ [ "high urine arginine levels", "high urine arginine level" ] ], "xref": [ "UMLS:C4025635" ], "is_a": [ "HP:0033093" ], "is_obsolete": "", "replace_id": "" }, "HP:0003269": { "name": [ "sudanophilic leukodystrophy", "sudanophilic leukodystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D020371", "SNOMEDCT_US:64855000", "UMLS:C0205711" ], "is_a": [ "HP:0002415" ], "is_obsolete": "", "replace_id": "" }, "HP:0003270": { "name": [ "abdominal distention", "abdominal distention" ], "alt_id": [ "HP:0001542", "HP:0003364" ], "def": "Distention of the abdomen.", "synonym": [ [ "abdominal bloating", "abdominal bloating" ], [ "abdominal distension", "abdominal distension" ], [ "abdominal swelling", "abdominal swelling" ], [ "belly bloating", "belly bloat" ], [ "bloating", "bloating" ], [ "distended abdomen", "distend abdomen" ] ], "xref": [ "SNOMEDCT_US:41931001", "SNOMEDCT_US:60728008", "UMLS:C0000731" ], "is_a": [ "HP:0011458" ], "is_obsolete": "", "replace_id": "" }, "HP:0003271": { "name": [ "visceromegaly", "visceromegaly" ], "alt_id": [], "def": "Abnormal increased size of the viscera of the abdomen.", "synonym": [], "xref": [ "SNOMEDCT_US:28543008", "UMLS:C0042782" ], "is_a": [ "HP:0001438" ], "is_obsolete": "", "replace_id": "" }, "HP:0003272": { "name": [ "abnormal hip bone morphology", "abnormal hip bone morphology" ], "alt_id": [], "def": "An abnormality of the hip bone.", "synonym": [ [ "abnormality of the hip bone", "abnormality of the hip bone" ], [ "abnormality of the hips", "abnormality of the hip" ] ], "xref": [ "UMLS:C4021735" ], "is_a": [ "HP:0002644" ], "is_obsolete": "", "replace_id": "" }, "HP:0003273": { "name": [ "hip contracture", "hip contracture" ], "alt_id": [], "def": "", "synonym": [ [ "flexion contracture of hips", "flexion contracture of hip" ], [ "flexion contractures of hips", "flexion contracture of hip" ], [ "hip contractures", "hip contracture" ], [ "hip flexion contractures", "hip flexion contracture" ] ], "xref": [ "SNOMEDCT_US:202283002", "UMLS:C0409354" ], "is_a": [ "HP:0005750", "HP:0008800" ], "is_obsolete": "", "replace_id": "" }, "HP:0003274": { "name": [ "hypoplastic acetabulae", "hypoplastic acetabulae" ], "alt_id": [], "def": "Underdeveloped acetabulae.", "synonym": [ [ "acetabular hypoplasia", "acetabular hypoplasia" ], [ "hypoplastic acetabula", "hypoplastic acetabulum" ] ], "xref": [ "UMLS:C1846442" ], "is_a": [ "HP:0003170" ], "is_obsolete": "", "replace_id": "" }, "HP:0003275": { "name": [ "narrow pelvis bone", "narrow pelvis bone" ], "alt_id": [], "def": "Reduced side to side width of the pelvis.", "synonym": [ [ "narrow pelvis", "narrow pelvis" ], [ "narrow pelvis bone", "narrow pelvis bone" ] ], "xref": [ "UMLS:C1848103" ], "is_a": [ "HP:0040163" ], "is_obsolete": "", "replace_id": "" }, "HP:0003276": { "name": [ "pelvic bone exostoses", "pelvic bone exostosis" ], "alt_id": [], "def": "A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.", "synonym": [ [ "pelvic exostoses", "pelvic exostosis" ] ], "xref": [ "UMLS:C1844689" ], "is_a": [ "HP:0040163", "HP:0100777" ], "is_obsolete": "", "replace_id": "" }, "HP:0003277": { "name": [ "constricted iliac wing", "constrict iliac wing" ], "alt_id": [], "def": "", "synonym": [ [ "constricted iliac wings", "constrict iliac wing" ] ], "xref": [ "UMLS:C1854785" ], "is_a": [ "HP:0011867" ], "is_obsolete": "", "replace_id": "" }, "HP:0003278": { "name": [ "square pelvis bone", "square pelvis bone" ], "alt_id": [], "def": "An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.", "synonym": [ [ "square pelvis", "square pelvis" ], [ "square pelvis bone", "square pelvis bone" ], [ "squared off pelvis", "square off pelvis" ] ], "xref": [ "UMLS:C1849953" ], "is_a": [ "HP:0040163" ], "is_obsolete": "", "replace_id": "" }, "HP:0003279": { "name": [ "coxa magna", "coxa magna" ], "alt_id": [], "def": "Widening of the femoral head and neck.", "synonym": [], "xref": [ "MSH:D000070603", "SNOMEDCT_US:296041000119103", "UMLS:C1860826" ], "is_a": [ "HP:0003272" ], "is_obsolete": "", "replace_id": "" }, "HP:0003281": { "name": [ "increased circulating ferritin concentration", "increase circulate ferritin concentration" ], "alt_id": [], "def": "Increased concentration of ferritin in the blood circulation.", "synonym": [ [ "elevated serum ferritin", "elevate serum ferritin" ], [ "high ferritin level", "high ferritin level" ], [ "hyperferritinaemia", "hyperferritinaemia" ], [ "hyperferritinemia", "hyperferritinemia" ], [ "increased ferritin", "increase ferritin" ], [ "increased plasma ferritin", "increase plasma ferritin" ], [ "increased serum ferritin level", "increase serum ferritin level" ] ], "xref": [ "UMLS:C0241013", "UMLS:C0743912", "UMLS:C3854388" ], "is_a": [ "HP:0033331", "HP:0040133" ], "is_obsolete": "", "replace_id": "" }, "HP:0003282": { "name": [ "low alkaline phosphatase", "low alkaline phosphatase" ], "alt_id": [], "def": "Abnormally reduced serum levels of alkaline phosphatase.", "synonym": [ [ "decreased serum alkaline phosphatase", "decrease serum alkaline phosphatase" ], [ "low alp", "low alp" ] ], "xref": [ "UMLS:C1860130" ], "is_a": [ "HP:0004379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003286": { "name": [ "cystathioninemia", "cystathioninemia" ], "alt_id": [], "def": "An increased concentration of cystathionine in the blood.", "synonym": [ [ "high blood cystathionine levels", "high blood cystathionine level" ] ], "xref": [ "SNOMEDCT_US:6669004", "UMLS:C0268618" ], "is_a": [ "HP:0033108" ], "is_obsolete": "", "replace_id": "" }, "HP:0003287": { "name": [ "abnormality of mitochondrial metabolism", "abnormality of mitochondrial metabolism" ], "alt_id": [], "def": "A functional anomaly of mitochondria.", "synonym": [ [ "mitochondrial dysfunction", "mitochondrial dysfunction" ] ], "xref": [ "UMLS:C4021734" ], "is_a": [ "HP:0012103" ], "is_obsolete": "", "replace_id": "" }, "HP:0003288": { "name": [ "mitochondrial propionyl - coa carboxylase defect", "mitochondrial propionyl - coa carboxylase defect" ], "alt_id": [], "def": "", "synonym": [ [ "mitochondrial pcc defect", "mitochondrial pcc defect" ] ], "xref": [ "UMLS:C4025634" ], "is_a": [ "HP:0003287" ], "is_obsolete": "", "replace_id": "" }, "HP:0003292": { "name": [ "decreased serum leptin", "decrease serum leptin" ], "alt_id": [], "def": "A decreased concentration of leptin in the blood.", "synonym": [ [ "decreased serum leptin", "decrease serum leptin" ], [ "reduced circulating leptin level", "reduce circulate leptin level" ] ], "xref": [ "UMLS:C1837802" ], "is_a": [ "HP:0004361" ], "is_obsolete": "", "replace_id": "" }, "HP:0003295": { "name": [ "obsolete impaired fsh and lh secretion", "obsolete impair fsh and lh secretion" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0003296": { "name": [ "hyperthreoninuria", "hyperthreoninuria" ], "alt_id": [], "def": "An increased concentration of threonine in the urine.", "synonym": [ [ "high urine threonine levels", "high urine threonine level" ] ], "xref": [ "UMLS:C2673931" ], "is_a": [ "HP:0033096" ], "is_obsolete": "", "replace_id": "" }, "HP:0003297": { "name": [ "hyperlysinuria", "hyperlysinuria" ], "alt_id": [ "HP:0002158" ], "def": "An increased concentration of lysine in the urine.", "synonym": [ [ "high urine lysine levels", "high urine lysine level" ], [ "lysinuria", "lysinuria" ] ], "xref": [ "UMLS:C4021733" ], "is_a": [ "HP:0033096" ], "is_obsolete": "", "replace_id": "" }, "HP:0003298": { "name": [ "spina bifida occulta", "spina bifida occulta" ], "alt_id": [], "def": "The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.", "synonym": [], "xref": [ "MSH:D016136", "SNOMEDCT_US:76916001", "UMLS:C0080174" ], "is_a": [ "HP:0002414" ], "is_obsolete": "", "replace_id": "" }, "HP:0003300": { "name": [ "ovoid vertebral bodies", "ovoid vertebral body" ], "alt_id": [ "HP:0004559" ], "def": "When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.", "synonym": [ [ "bullet vertebral body", "bullet vertebral body" ], [ "oval vertebral bodies", "oval vertebral body" ], [ "ovoid vertebrae", "ovoid vertebra" ], [ "ovoid - shaped vertebral bodies", "ovoid - shaped vertebral body" ] ], "xref": [ "UMLS:C1855665", "UMLS:C4020844" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0003301": { "name": [ "irregular vertebral endplates", "irregular vertebral endplate" ], "alt_id": [ "HP:0003420", "HP:0004583", "HP:0004628" ], "def": "An irregular surface of the vertebral end plates, which are normally relatively smooth.", "synonym": [ [ "end - plate irregularities", "end - plate irregularity" ], [ "endplate irregularities", "endplate irregularity" ], [ "endplate irregularity", "endplate irregularity" ], [ "irregular end plates", "irregular end plate" ], [ "irregular endplates", "irregular endplate" ], [ "irregular vertebral plates", "irregular vertebral plate" ], [ "vertebral endplate irregularity", "vertebral endplate irregularity" ] ], "xref": [ "UMLS:C1842153" ], "is_a": [ "HP:0005106" ], "is_obsolete": "", "replace_id": "" }, "HP:0003302": { "name": [ "spondylolisthesis", "spondylolisthesis" ], "alt_id": [], "def": "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.", "synonym": [ [ "displacement of one backbone compared to another", "displacement of one backbone compare to another" ], [ "slipped backbone", "slip backbone" ], [ "spondylolithesis", "spondylolithesis" ] ], "xref": [ "MSH:D013168", "SNOMEDCT_US:274152003", "UMLS:C0038016" ], "is_a": [ "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0003304": { "name": [ "spondylolysis", "spondylolysis" ], "alt_id": [], "def": "Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.", "synonym": [], "xref": [ "MSH:D013169", "SNOMEDCT_US:240221008", "UMLS:C0038018" ], "is_a": [ "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0003305": { "name": [ "block vertebrae", "block vertebra" ], "alt_id": [], "def": "Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).", "synonym": [], "xref": [ "UMLS:C1844753" ], "is_a": [ "HP:0002948" ], "is_obsolete": "", "replace_id": "" }, "HP:0003306": { "name": [ "spinal rigidity", "spinal rigidity" ], "alt_id": [], "def": "Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.", "synonym": [ [ "reduced spine movement", "reduce spine movement" ], [ "rigid spine", "rigid spine" ] ], "xref": [ "UMLS:C1858025" ], "is_a": [ "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0003307": { "name": [ "hyperlordosis", "hyperlordosis" ], "alt_id": [ "HP:0002939" ], "def": "Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.", "synonym": [ [ "lordosis", "lordosis" ], [ "prominent swayback", "prominent swayback" ] ], "xref": [ "MSH:D008141", "SNOMEDCT_US:249710008", "SNOMEDCT_US:61960001", "UMLS:C0024003" ], "is_a": [ "HP:0010674" ], "is_obsolete": "", "replace_id": "" }, "HP:0003308": { "name": [ "cervical subluxation", "cervical subluxation" ], "alt_id": [], "def": "A partial dislocation of one or more intervertebral joints in the cervical vertebral column.", "synonym": [], "xref": [ "UMLS:C1846798" ], "is_a": [ "HP:0003319", "HP:0032153" ], "is_obsolete": "", "replace_id": "" }, "HP:0003309": { "name": [ "ovoid thoracolumbar vertebrae", "ovoid thoracolumbar vertebra" ], "alt_id": [], "def": "", "synonym": [ [ "ovoid thoracic and lumbar vertebrae", "ovoid thoracic and lumbar vertebra" ] ], "xref": [ "UMLS:C1868556" ], "is_a": [ "HP:0003300" ], "is_obsolete": "", "replace_id": "" }, "HP:0003310": { "name": [ "abnormality of the odontoid process", "abnormality of the odontoid process" ], "alt_id": [ "HP:0004600" ], "def": "Abnormality of the dens of the axis, which is also known as the odontoid process.", "synonym": [ [ "abnormal odontoid peg", "abnormal odontoid peg" ], [ "abnormal odontoid process", "abnormal odontoid process" ] ], "xref": [ "UMLS:C1864794" ], "is_a": [ "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0003311": { "name": [ "hypoplasia of the odontoid process", "hypoplasia of the odontoid process" ], "alt_id": [ "HP:0003299", "HP:0004613", "HP:0008481" ], "def": "Developmental hypoplasia of the dens of the axis.", "synonym": [ [ "hypoplastic odontoid process", "hypoplastic odontoid process" ], [ "odontoid hypoplasia", "odontoid hypoplasia" ], [ "small odontoid peg", "small odontoid peg" ], [ "small odontoid process", "small odontoid process" ] ], "xref": [ "UMLS:C1846439" ], "is_a": [ "HP:0003310", "HP:0008518" ], "is_obsolete": "", "replace_id": "" }, "HP:0003312": { "name": [ "abnormal form of the vertebral bodies", "abnormal form of the vertebral body" ], "alt_id": [], "def": "Abnormal morphology of vertebral body.", "synonym": [ [ "abnormally shaped vertebrae", "abnormally shape vertebra" ] ], "xref": [ "UMLS:C1839326" ], "is_a": [ "HP:0003468" ], "is_obsolete": "", "replace_id": "" }, "HP:0003316": { "name": [ "butterfly vertebrae", "butterfly vertebra" ], "alt_id": [], "def": "A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.", "synonym": [ [ "anterior rachischisis", "anterior rachischisis" ], [ "butterfly vertebrae", "butterfly vertebra" ], [ "sagittal clefting of vertebrae", "sagittal clefting of vertebra" ] ], "xref": [ "UMLS:C1844752" ], "is_a": [ "HP:0008428" ], "is_obsolete": "", "replace_id": "" }, "HP:0003318": { "name": [ "cervical spine hypermobility", "cervical spine hypermobility" ], "alt_id": [], "def": "", "synonym": [ [ "cervical spine joint hypermobility", "cervical spine joint hypermobility" ] ], "xref": [ "SNOMEDCT_US:298186005", "UMLS:C0574967" ], "is_a": [ "HP:0003319" ], "is_obsolete": "", "replace_id": "" }, "HP:0003319": { "name": [ "abnormality of the cervical spine", "abnormality of the cervical spine" ], "alt_id": [ "HP:0004587" ], "def": "Any abnormality of the cervical vertebral column.", "synonym": [ [ "abnormal cervical spine", "abnormal cervical spine" ], [ "abnormality of cervical vertebra", "abnormality of cervical vertebra" ], [ "abnormality of the cervical vertebrae", "abnormality of the cervical vertebra" ], [ "cervical spine abnormalities", "cervical spine abnormality" ], [ "cervical vertebral abnormalities", "cervical vertebral abnormality" ], [ "cervical vertebral anomalies", "cervical vertebral anomaly" ], [ "disorder of cervical vertebra", "disorder of cervical vertebra" ] ], "xref": [ "UMLS:C1852464" ], "is_a": [ "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0003320": { "name": [ "c1 - c2 subluxation", "c1 - c2 subluxation" ], "alt_id": [], "def": "A partial dislocation of the atlantoaxial joints.", "synonym": [], "xref": [ "UMLS:C1848446" ], "is_a": [ "HP:0003308", "HP:0008440" ], "is_obsolete": "", "replace_id": "" }, "HP:0003321": { "name": [ "biconcave flattened vertebrae", "biconcave flatten vertebra" ], "alt_id": [ "HP:0005782" ], "def": "", "synonym": [], "xref": [ "UMLS:C1833753" ], "is_a": [ "HP:0000926", "HP:0004586" ], "is_obsolete": "", "replace_id": "" }, "HP:0003323": { "name": [ "progressive muscle weakness", "progressive muscle weakness" ], "alt_id": [ "HP:0009032" ], "def": "", "synonym": [ [ "muscle weakness , progressive", "muscle weakness , progressive" ], [ "progressive muscular weakness", "progressive muscular weakness" ] ], "xref": [ "UMLS:C0240421" ], "is_a": [ "HP:0001324" ], "is_obsolete": "", "replace_id": "" }, "HP:0003324": { "name": [ "generalized muscle weakness", "generalize muscle weakness" ], "alt_id": [ "HP:0003686", "HP:0003723" ], "def": "Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.", "synonym": [ [ "generalised muscle weakness", "generalise muscle weakness" ], [ "generalised weakness", "generalise weakness" ], [ "generalized weakness", "generalize weakness" ], [ "muscle weakness , diffuse", "muscle weakness , diffuse" ], [ "muscle weakness , generalised", "muscle weakness , generalise" ], [ "muscle weakness , generalized", "muscle weakness , generalize" ] ], "xref": [ "UMLS:C0746674" ], "is_a": [ "HP:0001324" ], "is_obsolete": "", "replace_id": "" }, "HP:0003325": { "name": [ "limb - girdle muscle weakness", "limb - girdle muscle weakness" ], "alt_id": [ "HP:0008971" ], "def": "Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.", "synonym": [ [ "limb girdle weakness", "limb girdle weakness" ], [ "muscle weakness , limb - girdle", "muscle weakness , limb - girdle" ], [ "muscular weakness , limb - girdle", "muscular weakness , limb - girdle" ] ], "xref": [ "UMLS:C1858127" ], "is_a": [ "HP:0001324", "HP:0009127" ], "is_obsolete": "", "replace_id": "" }, "HP:0003326": { "name": [ "myalgia", "myalgia" ], "alt_id": [ "HP:0003718" ], "def": "Pain in muscle.", "synonym": [ [ "muscle ache", "muscle ache" ], [ "muscle pain", "muscle pain" ], [ "myalgias", "myalgia" ] ], "xref": [ "MSH:D063806", "SNOMEDCT_US:68962001", "UMLS:C0231528" ], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0003327": { "name": [ "axial muscle weakness", "axial muscle weakness" ], "alt_id": [], "def": "Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).", "synonym": [], "xref": [ "UMLS:C1843697" ], "is_a": [ "HP:0001324" ], "is_obsolete": "", "replace_id": "" }, "HP:0003328": { "name": [ "abnormal hair laboratory examination", "abnormal hair laboratory examination" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025632" ], "is_a": [ "HP:0001595" ], "is_obsolete": "", "replace_id": "" }, "HP:0003329": { "name": [ "hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes", "hair shaft flatten at irregular interval and twist through 180 degree about their ax" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025631" ], "is_a": [ "HP:0003328" ], "is_obsolete": "", "replace_id": "" }, "HP:0003330": { "name": [ "abnormal bone structure", "abnormal bone structure" ], "alt_id": [], "def": "Any anomaly in the composite material or the layered arrangement of the bony skeleton.", "synonym": [], "xref": [ "UMLS:C4025630" ], "is_a": [ "HP:0011842" ], "is_obsolete": "", "replace_id": "" }, "HP:0003332": { "name": [ "absent primary metaphyseal spongiosa", "absent primary metaphyseal spongiosa" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3277126" ], "is_a": [ "HP:0005089" ], "is_obsolete": "", "replace_id": "" }, "HP:0003333": { "name": [ "increased serum beta - hexosaminidase", "increase serum beta - hexosaminidase" ], "alt_id": [ "HP:0008299" ], "def": "", "synonym": [], "xref": [ "UMLS:C2673361" ], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0003334": { "name": [ "elevated circulating catecholamine level", "elevate circulate catecholamine level" ], "alt_id": [], "def": "An abnormal increase in catecholamine concentration in the blood.", "synonym": [], "xref": [ "UMLS:C4025629" ], "is_a": [ "HP:0012099" ], "is_obsolete": "", "replace_id": "" }, "HP:0003335": { "name": [ "obsolete low gonadotropins ( secondary hypogonadism )", "obsolete low gonadotropin ( secondary hypogonadism )" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000044" }, "HP:0003336": { "name": [ "abnormal enchondral ossification", "abnormal enchondral ossification" ], "alt_id": [ "HP:0003331" ], "def": "An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.", "synonym": [], "xref": [ "UMLS:C4025628" ], "is_a": [ "HP:0011849" ], "is_obsolete": "", "replace_id": "" }, "HP:0003337": { "name": [ "reduced prothrombin consumption", "reduce prothrombin consumption" ], "alt_id": [ "HP:0008172" ], "def": "The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.", "synonym": [ [ "poor prothrombin consumption", "poor prothrombin consumption" ] ], "xref": [ "UMLS:C4021732" ], "is_a": [ "HP:0012200" ], "is_obsolete": "", "replace_id": "" }, "HP:0003338": { "name": [ "focal necrosis of right ventricular muscle cells", "focal necrosis of right ventricular muscle cell" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025627" ], "is_a": [ "HP:0001637" ], "is_obsolete": "", "replace_id": "" }, "HP:0003339": { "name": [ "pyrimidine - responsive megaloblastic anemia", "pyrimidine - responsive megaloblastic anemia" ], "alt_id": [], "def": "A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.", "synonym": [ [ "anaemia corrected by uridylic acid and cytidylic acid", "anaemia correct by uridylic acid and cytidylic acid" ], [ "anemia corrected by uridylic acid and cytidylic acid", "anemia correct by uridylic acid and cytidylic acid" ], [ "pyrimidine - responsive megaloblastic anaemia", "pyrimidine - responsive megaloblastic anaemia" ] ], "xref": [ "UMLS:C4021731" ], "is_a": [ "HP:0001889" ], "is_obsolete": "", "replace_id": "" }, "HP:0003340": { "name": [ "obsolete abnormal dermatological laboratory findings", "obsolete abnormal dermatological laboratory finding" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0003341": { "name": [ "subepidermal blistering with cleavage in the lamina lucida", "subepidermal blister with cleavage in the lamina lucida" ], "alt_id": [], "def": "The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.", "synonym": [ [ "blistering with junctional split", "blister with junctional split" ], [ "junctional split", "junctional split" ], [ "subepidermal blistering with cleavage in the lamina lucida", "subepidermal blister with cleavage in the lamina lucida" ] ], "xref": [ "UMLS:C4021730" ], "is_a": [ "HP:0033804" ], "is_obsolete": "", "replace_id": "" }, "HP:0003343": { "name": [ "reduced glutathione synthetase level", "reduce glutathione synthetase level" ], "alt_id": [], "def": "Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline.", "synonym": [ [ "glutathione synthetase deficiency", "glutathione synthetase deficiency" ] ], "xref": [ "MSH:C536835", "SNOMEDCT_US:124706000", "SNOMEDCT_US:234589002", "SNOMEDCT_US:39112005", "UMLS:C0398746" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003344": { "name": [ "3 - methylglutaric aciduria", "3 - methylglutaric aciduria" ], "alt_id": [], "def": "", "synonym": [ [ "3 - methylglutaricaciduria", "3 - methylglutaricaciduria" ] ], "xref": [ "UMLS:C3151952" ], "is_a": [ "HP:0003535" ], "is_obsolete": "", "replace_id": "" }, "HP:0003345": { "name": [ "elevated urinary norepinephrine", "elevate urinary norepinephrine" ], "alt_id": [], "def": "An increased concentration of noradrenaline in the urine.", "synonym": [], "xref": [ "UMLS:C4025626" ], "is_a": [ "HP:0011976" ], "is_obsolete": "", "replace_id": "" }, "HP:0003347": { "name": [ "impaired lymphocyte transformation with phytohemagglutinin", "impaired lymphocyte transformation with phytohemagglutinin" ], "alt_id": [], "def": "Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.", "synonym": [], "xref": [ "UMLS:C4025625" ], "is_a": [ "HP:0004332" ], "is_obsolete": "", "replace_id": "" }, "HP:0003348": { "name": [ "hyperalaninemia", "hyperalaninemia" ], "alt_id": [], "def": "An increased concentration of alanine in the blood.", "synonym": [ [ "increased blood alanine", "increase blood alanine" ], [ "increased serum alanine", "increase serum alanine" ] ], "xref": [ "MSH:C562684", "SNOMEDCT_US:2359002", "UMLS:C0268630", "UMLS:C1839424", "UMLS:C1849489" ], "is_a": [ "HP:0010916" ], "is_obsolete": "", "replace_id": "" }, "HP:0003349": { "name": [ "low cholesterol esterification rate", "low cholesterol esterification rate" ], "alt_id": [], "def": "A reduction in the rate of cholesterol esterification.", "synonym": [], "xref": [ "UMLS:C1843371" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003351": { "name": [ "decreased circulating renin level", "decrease circulate renin level" ], "alt_id": [ "HP:0003263" ], "def": "An decreased level of renin in the blood.", "synonym": [ [ "decreased plasma renin activity", "decrease plasma renin activity" ], [ "low plasma renin activity", "low plasma renin activity" ], [ "suppressed plasma renin activity", "suppress plasma renin activity" ] ], "xref": [ "UMLS:C1845206" ], "is_a": [ "HP:0040084" ], "is_obsolete": "", "replace_id": "" }, "HP:0003352": { "name": [ "endopolyploidy on chromosome studies of bone marrow", "endopolyploidy on chromosome study of bone marrow" ], "alt_id": [], "def": "An increase in the number of chromosome sets per cell in bone marrow cells.", "synonym": [], "xref": [ "UMLS:C4025624" ], "is_a": [ "HP:0002916" ], "is_obsolete": "", "replace_id": "" }, "HP:0003353": { "name": [ "propionyl - coa carboxylase deficiency", "propionyl - coa carboxylase deficiency" ], "alt_id": [], "def": "An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase.", "synonym": [], "xref": [ "MSH:D056693", "SNOMEDCT_US:124718009", "SNOMEDCT_US:69080001", "UMLS:C0268579" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003354": { "name": [ "hyperthreoninemia", "hyperthreoninemia" ], "alt_id": [], "def": "An increased concentration of threonine in the blood.", "synonym": [ [ "elevated circulating threonine", "elevate circulate threonine" ], [ "high blood threonine levels", "high blood threonine level" ] ], "xref": [ "UMLS:C1848861" ], "is_a": [ "HP:0010900" ], "is_obsolete": "", "replace_id": "" }, "HP:0003355": { "name": [ "aminoaciduria", "aminoaciduria" ], "alt_id": [ "HP:0002903", "HP:0008335", "HP:0200014" ], "def": "An increased concentration of an amino acid in the urine.", "synonym": [ [ "abnormal urinary amino - acid findings", "abnormal urinary amino - acid finding" ], [ "high urine amino acid levels", "high urine amino acid level" ], [ "hyperaminoaciduria", "hyperaminoaciduria" ], [ "increased levels of animo acids in urine", "increased level of animo acid in urine" ] ], "xref": [ "SNOMEDCT_US:35912001", "UMLS:C0238621", "UMLS:C4020843" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0003357": { "name": [ "thymic hormone decreased", "thymic hormone decrease" ], "alt_id": [], "def": "A reduction in the level of thymic horomone.", "synonym": [ [ "decreased thymic hormone", "decrease thymic hormone" ] ], "xref": [ "UMLS:C1857652" ], "is_a": [ "HP:0000777" ], "is_obsolete": "", "replace_id": "" }, "HP:0003358": { "name": [ "elevated intracellular cystine", "elevate intracellular cystine" ], "alt_id": [], "def": "An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.", "synonym": [], "xref": [ "UMLS:C4025623" ], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:0003359": { "name": [ "decreased urinary sulfate", "decrease urinary sulfate" ], "alt_id": [], "def": "Decreased concentration of sulfate in the urine.", "synonym": [ [ "decreased urinary sulfate", "decrease urinary sulfate" ], [ "decreased urinary sulphate", "decrease urinary sulphate" ] ], "xref": [ "UMLS:C1848958" ], "is_a": [ "HP:0012612" ], "is_obsolete": "", "replace_id": "" }, "HP:0003361": { "name": [ "tryptophanuria", "tryptophanuria" ], "alt_id": [], "def": "An increased concentration of tryptophan in the urine.", "synonym": [ [ "high urine tryptophan levels", "high urine tryptophan level" ] ], "xref": [ "SNOMEDCT_US:18789002", "UMLS:C0268472" ], "is_a": [ "HP:0033090" ], "is_obsolete": "", "replace_id": "" }, "HP:0003362": { "name": [ "increased vldl cholesterol concentration", "increase vldl cholesterol concentration" ], "alt_id": [], "def": "An increase in the amount of very-low-density lipoprotein cholesterol in the blood.", "synonym": [ [ "increased circulating very - low - density lipoprotein cholesterol", "increase circulate very - low - density lipoprotein cholesterol" ], [ "increased circulating very - low - density lipoprotein levels", "increase circulate very - low - density lipoprotein level" ], [ "increased plasma vldl cholesterol", "increase plasma vldl cholesterol" ] ], "xref": [ "UMLS:C4021729" ], "is_a": [ "HP:0010980", "HP:0031889" ], "is_obsolete": "", "replace_id": "" }, "HP:0003363": { "name": [ "abdominal situs inversus", "abdominal situs inversus" ], "alt_id": [], "def": "A left-right reversal (or \\\"mirror reflection\\\") of the anatomical location of the viscera of the abdomen.", "synonym": [ [ "situs inversus visceralis", "situs inversus visceralis" ], [ "situs inversus viscerum", "situs inversus viscerum" ] ], "xref": [ "Fyler:3816", "MSH:D012857", "SNOMEDCT_US:27317008", "SNOMEDCT_US:43876007", "UMLS:C0037221" ], "is_a": [ "HP:0011620" ], "is_obsolete": "", "replace_id": "" }, "HP:0003365": { "name": [ "arthralgia of the hip", "arthralgia of the hip" ], "alt_id": [], "def": "Joint pain affecting the hip.", "synonym": [ [ "coxalgia", "coxalgia" ], [ "hip arthralgia", "hip arthralgia" ], [ "hip joint pain", "hip joint pain" ] ], "xref": [ "SNOMEDCT_US:49218002", "UMLS:C0019559" ], "is_a": [ "HP:0003272" ], "is_obsolete": "", "replace_id": "" }, "HP:0003366": { "name": [ "abnormal femoral neck / head morphology", "abnormal femoral neck / head morphology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal neck or head of thigh bone", "abnormal neck or head of thigh bone" ], [ "abnormality of the femoral neck or head region", "abnormality of the femoral neck or head region" ] ], "xref": [ "UMLS:C4025622" ], "is_a": [ "HP:0002823" ], "is_obsolete": "", "replace_id": "" }, "HP:0003367": { "name": [ "abnormal femoral neck morphology", "abnormal femoral neck morphology" ], "alt_id": [], "def": "An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).", "synonym": [ [ "abnormal neck of thigh bone", "abnormal neck of thigh bone" ], [ "abnormality of the femoral neck", "abnormality of the femoral neck" ] ], "xref": [ "UMLS:C4025621" ], "is_a": [ "HP:0003366" ], "is_obsolete": "", "replace_id": "" }, "HP:0003368": { "name": [ "abnormal femoral head morphology", "abnormal femoral head morphology" ], "alt_id": [], "def": "An abnormality of the femoral head.", "synonym": [ [ "abnormal head of thigh bone", "abnormal head of thigh bone" ], [ "abnormality of the femoral head", "abnormality of the femoral head" ] ], "xref": [ "UMLS:C4025620" ], "is_a": [ "HP:0003366" ], "is_obsolete": "", "replace_id": "" }, "HP:0003370": { "name": [ "flat capital femoral epiphysis", "flat capital femoral epiphysis" ], "alt_id": [ "HP:0006393" ], "def": "An abnormal flattening of the proximal epiphysis of the femur.", "synonym": [ [ "flat capital femoral epiphyses", "flat capital femoral epiphysis" ], [ "flat end part of innermost thighbone", "flat end part of innermost thighbone" ], [ "flat femoral capital epiphyses", "flat femoral capital epiphysis" ], [ "flat proximal femoral epiphyses", "flat proximal femoral epiphysis" ], [ "flattened proximal femoral epiphyses", "flatten proximal femoral epiphysis" ] ], "xref": [ "UMLS:C1842155" ], "is_a": [ "HP:0010574", "HP:0030289" ], "is_obsolete": "", "replace_id": "" }, "HP:0003371": { "name": [ "enlargement of the proximal femoral epiphysis", "enlargement of the proximal femoral epiphysis" ], "alt_id": [], "def": "An abnormal enlargement of the proximal epiphysis of the femur.", "synonym": [ [ "enlarged capital femoral epiphyses", "enlarge capital femoral epiphysis" ], [ "enlarged end part of innermost thighbone", "enlarged end part of innermost thighbone" ] ], "xref": [ "UMLS:C1859697" ], "is_a": [ "HP:0010574", "HP:0010580" ], "is_obsolete": "", "replace_id": "" }, "HP:0003375": { "name": [ "narrow greater sciatic notch", "narrow great sciatic notch" ], "alt_id": [ "HP:0008803", "HP:0008805", "HP:0008813", "HP:0008840", "HP:0008842" ], "def": "A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.", "synonym": [ [ "narrow greater sacrosciatic notches", "narrow great sacrosciatic notch" ], [ "narrow sacroiliac notch", "narrow sacroiliac notch" ], [ "narrow sacrosciatic notch", "narrow sacrosciatic notch" ], [ "narrow sciatic notches", "narrow sciatic notch" ], [ "narrowed greater sciatic notch", "narrow great sciatic notch" ], [ "narrowed sacrosciatic notch", "narrow sacrosciatic notch" ], [ "small sacrosciatic notch", "small sacrosciatic notch" ], [ "small sacrosciatic notches", "small sacrosciatic notch" ] ], "xref": [ "SNOMEDCT_US:289457006", "UMLS:C0566888" ], "is_a": [ "HP:0010456" ], "is_obsolete": "", "replace_id": "" }, "HP:0003376": { "name": [ "steppage gait", "steppage gait" ], "alt_id": [], "def": "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.", "synonym": [ [ "'steppage ' gait", "'steppage ' gait" ], [ "high stepping", "high stepping" ] ], "xref": [ "MSH:D020233", "SNOMEDCT_US:27253007", "UMLS:C0427149" ], "is_a": [ "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0003378": { "name": [ "axonal degeneration / regeneration", "axonal degeneration / regeneration" ], "alt_id": [], "def": "A pattern of simultaneous degeneration and regeneration of axons (see comment).", "synonym": [ [ "axon degeneration and regeneration", "axon degeneration and regeneration" ] ], "xref": [ "UMLS:C1968790" ], "is_a": [ "HP:0000764" ], "is_obsolete": "", "replace_id": "" }, "HP:0003380": { "name": [ "decreased number of peripheral myelinated nerve fibers", "decreased number of peripheral myelinated nerve fiber" ], "alt_id": [ "HP:0003385", "HP:0003386", "HP:0007093", "HP:0007135", "HP:0007177", "HP:0007320", "HP:0007322" ], "def": "A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).", "synonym": [ [ "decreased number of large and small myelinated fibers", "decreased number of large and small myelinated fiber" ], [ "decreased number of large and small myelinated fibres", "decreased number of large and small myelinated fibre" ], [ "decreased number of peripheral myelinated nerve fibres", "decreased number of peripheral myelinated nerve fibre" ], [ "loss of myelinated fibers", "loss of myelinated fiber" ], [ "loss of myelinated fibres", "loss of myelinated fibre" ] ], "xref": [ "UMLS:C1858285" ], "is_a": [ "HP:0003130" ], "is_obsolete": "", "replace_id": "" }, "HP:0003382": { "name": [ "hypertrophic nerve changes", "hypertrophic nerve change" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1832776" ], "is_a": [ "HP:0000759" ], "is_obsolete": "", "replace_id": "" }, "HP:0003383": { "name": [ "onion bulb formation", "onion bulb formation" ], "alt_id": [ "HP:0003389", "HP:0007013", "HP:0007022", "HP:0007084", "HP:0008276" ], "def": "Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.", "synonym": [ [ "'onion bulb ' formations", "'onion bulb ' formation" ], [ "onion bulb formations", "onion bulb formation" ] ], "xref": [ "UMLS:C1847906" ], "is_a": [ "HP:0003130" ], "is_obsolete": "", "replace_id": "" }, "HP:0003384": { "name": [ "peripheral axonal atrophy", "peripheral axonal atrophy" ], "alt_id": [], "def": "Atrophic changes of axons of the peripheral nervous system.", "synonym": [], "xref": [ "UMLS:C4025619" ], "is_a": [ "HP:0000764" ], "is_obsolete": "", "replace_id": "" }, "HP:0003387": { "name": [ "decreased number of large peripheral myelinated nerve fibers", "decreased number of large peripheral myelinated nerve fiber" ], "alt_id": [ "HP:0006868", "HP:0007031", "HP:0007315" ], "def": "A reduced number of large myelinated nerve fibers.", "synonym": [ [ "decreased number of large peripheral myelinated nerve fibres", "decreased number of large peripheral myelinated nerve fibre" ], [ "depletion of large myelinated fibers", "depletion of large myelinated fiber" ], [ "depletion of large myelinated fibres", "depletion of large myelinated fibre" ], [ "loss of large myelinated fibers", "loss of large myelinated fiber" ], [ "loss of large myelinated fibres", "loss of large myelinated fibre" ], [ "loss of larger myelinated nerve fibers", "loss of large myelinated nerve fiber" ], [ "loss of larger myelinated nerve fibres", "loss of large myelinated nerve fibre" ] ], "xref": [ "UMLS:C1859606" ], "is_a": [ "HP:0003380" ], "is_obsolete": "", "replace_id": "" }, "HP:0003388": { "name": [ "easy fatigability", "easy fatigability" ], "alt_id": [], "def": "Increased susceptibility to fatigue.", "synonym": [ [ "tired easily", "tire easily" ] ], "xref": [ "SNOMEDCT_US:248268002", "UMLS:C0424585", "UMLS:C1837098" ], "is_a": [ "HP:0004302", "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0003390": { "name": [ "sensory axonal neuropathy", "sensory axonal neuropathy" ], "alt_id": [ "HP:0006883", "HP:0007248", "HP:0007345" ], "def": "An axonal neuropathy of peripheral sensory nerves.", "synonym": [ [ "axonal sensory neuropathy", "axonal sensory neuropathy" ], [ "peripheral sensory axonal neuropathy", "peripheral sensory axonal neuropathy" ] ], "xref": [ "UMLS:C1842587", "UMLS:C1970883" ], "is_a": [ "HP:0000763", "HP:0003477" ], "is_obsolete": "", "replace_id": "" }, "HP:0003391": { "name": [ "gowers sign", "gowers sign" ], "alt_id": [], "def": "A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.", "synonym": [ [ "gower sign", "gower sign" ], [ "positive gower sign", "positive gower sign" ], [ "positive gowers sign", "positive gowers sign" ] ], "xref": [ "SNOMEDCT_US:298294005", "SNOMEDCT_US:85905009", "UMLS:C0234182", "UMLS:C0575071" ], "is_a": [ "HP:0003701" ], "is_obsolete": "", "replace_id": "" }, "HP:0003392": { "name": [ "first dorsal interossei muscle weakness", "first dorsal interossei muscle weakness" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1832277" ], "is_a": [ "HP:0002460" ], "is_obsolete": "", "replace_id": "" }, "HP:0003393": { "name": [ "thenar muscle atrophy", "thenar muscle atrophy" ], "alt_id": [], "def": "Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.", "synonym": [ [ "thenar atrophy", "thenar atrophy" ] ], "xref": [ "UMLS:C1864715" ], "is_a": [ "HP:0009130" ], "is_obsolete": "", "replace_id": "" }, "HP:0003394": { "name": [ "muscle spasm", "muscle spasm" ], "alt_id": [ "HP:0009018", "HP:0031988" ], "def": "Sudden and involuntary contractions of one or more muscles.", "synonym": [ [ "muscle cramps", "muscle cramp" ] ], "xref": [ "MSH:D009120", "SNOMEDCT_US:55300003", "UMLS:C0026821" ], "is_a": [ "HP:0011804" ], "is_obsolete": "", "replace_id": "" }, "HP:0003396": { "name": [ "syringomyelia", "syringomyelia" ], "alt_id": [ "HP:0006933" ], "def": "Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.", "synonym": [ [ "fluid - filled cyst in spinal cord", "fluid - fill cyst in spinal cord" ], [ "syrinx", "syrinx" ] ], "xref": [ "MSH:D013595", "SNOMEDCT_US:111496009", "UMLS:C0039144" ], "is_a": [ "HP:0100561" ], "is_obsolete": "", "replace_id": "" }, "HP:0003397": { "name": [ "generalized hypotonia due to defect at the neuromuscular junction", "generalize hypotonia due to defect at the neuromuscular junction" ], "alt_id": [], "def": "", "synonym": [ [ "generalised hypotonia due to defect at the neuromuscular junction", "generalise hypotonia due to defect at the neuromuscular junction" ] ], "xref": [ "UMLS:C1853950" ], "is_a": [ "HP:0001290", "HP:0003398" ], "is_obsolete": "", "replace_id": "" }, "HP:0003398": { "name": [ "abnormal synaptic transmission at the neuromuscular junction", "abnormal synaptic transmission at the neuromuscular junction" ], "alt_id": [], "def": "Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.", "synonym": [ [ "abnormality of neuromuscular transmission", "abnormality of neuromuscular transmission" ] ], "xref": [ "UMLS:C4020842", "UMLS:C4025618" ], "is_a": [ "HP:0030191" ], "is_obsolete": "", "replace_id": "" }, "HP:0003400": { "name": [ "basal lamina onion bulb formation", "basal lamina onion bulb formation" ], "alt_id": [], "def": "A type of onion bulb formation prominently affecting the area of the basal lamina.", "synonym": [ [ "basal lamina 'onion bulb ' formations on nerve biopsy", "basal lamina 'onion bulb ' formation on nerve biopsy" ] ], "xref": [ "UMLS:C1866637" ], "is_a": [ "HP:0003383" ], "is_obsolete": "", "replace_id": "" }, "HP:0003401": { "name": [ "paresthesia", "paresthesia" ], "alt_id": [ "HP:0002082" ], "def": "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.", "synonym": [ [ "paresthesias", "paresthesia" ], [ "pins and needles feeling", "pin and needle feel" ], [ "tingling", "tingle" ] ], "xref": [ "MSH:D010292", "SNOMEDCT_US:91019004", "UMLS:C0030554" ], "is_a": [ "HP:0033747" ], "is_obsolete": "", "replace_id": "" }, "HP:0003402": { "name": [ "decreased miniature endplate potentials", "decreased miniature endplate potential" ], "alt_id": [], "def": "An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.", "synonym": [ [ "decreased mepp", "decrease mepp" ], [ "small miniature endplate currents", "small miniature endplate current" ], [ "small miniature endplate potentials", "small miniature endplate potential" ] ], "xref": [ "UMLS:C1853952" ], "is_a": [ "HP:0003398" ], "is_obsolete": "", "replace_id": "" }, "HP:0003403": { "name": [ "emg : decremental response of compound muscle action potential to repetitive nerve stimulation", "emg : decremental response of compound muscle action potential to repetitive nerve stimulation" ], "alt_id": [ "HP:0003430", "HP:0003478" ], "def": "A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.", "synonym": [ [ "emg : decrement at repetitive stimulation", "emg : decrement at repetitive stimulation" ], [ "emg : decremental response of cmap to repetitive nerve stimulation", "emg : decremental response of cmap to repetitive nerve stimulation" ] ], "xref": [ "UMLS:C4020841", "UMLS:C4021728" ], "is_a": [ "HP:0100285" ], "is_obsolete": "", "replace_id": "" }, "HP:0003405": { "name": [ "diffuse axonal swelling", "diffuse axonal swelling" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1865417" ], "is_a": [ "HP:0000759" ], "is_obsolete": "", "replace_id": "" }, "HP:0003406": { "name": [ "peripheral nerve compression", "peripheral nerve compression" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1851414" ], "is_a": [ "HP:0045010" ], "is_obsolete": "", "replace_id": "" }, "HP:0003409": { "name": [ "distal sensory impairment of all modalities", "distal sensory impairment of all modality" ], "alt_id": [], "def": "", "synonym": [ [ "distal sensory loss to all modalities", "distal sensory loss to all modality" ] ], "xref": [ "UMLS:C1836527" ], "is_a": [ "HP:0000763" ], "is_obsolete": "", "replace_id": "" }, "HP:0003411": { "name": [ "proximal femoral metaphyseal irregularity", "proximal femoral metaphyseal irregularity" ], "alt_id": [], "def": "Irregularity of the normally smooth surface of the proximal metaphysis of the femur.", "synonym": [ [ "irregular proximal femoral metaphyses", "irregular proximal femoral metaphyses" ] ], "xref": [ "UMLS:C1836320" ], "is_a": [ "HP:0003366", "HP:0006431", "HP:0030291" ], "is_obsolete": "", "replace_id": "" }, "HP:0003413": { "name": [ "atlantoaxial abnormality", "atlantoaxial abnormality" ], "alt_id": [], "def": "An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.", "synonym": [], "xref": [ "UMLS:C4025617" ], "is_a": [ "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0003414": { "name": [ "atlantoaxial dislocation", "atlantoaxial dislocation" ], "alt_id": [], "def": "Partial dislocation of the atlantoaxial joint.", "synonym": [ [ "atlanto - axial subluxation", "atlanto - axial subluxation" ], [ "atlantoaxial subluxation", "atlantoaxial subluxation" ] ], "xref": [ "SNOMEDCT_US:263042007", "SNOMEDCT_US:45179004", "UMLS:C0263905" ], "is_a": [ "HP:0003413" ], "is_obsolete": "", "replace_id": "" }, "HP:0003416": { "name": [ "spinal canal stenosis", "spinal canal stenosis" ], "alt_id": [ "HP:0008446" ], "def": "An abnormal narrowing of the spinal canal.", "synonym": [ [ "narrow spinal canal", "narrow spinal canal" ], [ "spinal stenosis", "spinal stenosis" ] ], "xref": [ "UMLS:C1861329" ], "is_a": [ "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0003417": { "name": [ "coronal cleft vertebrae", "coronal cleft vertebra" ], "alt_id": [ "HP:0003673" ], "def": "Frontal schisis (cleft or cleavage) of vertebral bodies.", "synonym": [ [ "coronal cleft of vertebrae", "coronal cleft of vertebra" ], [ "coronal clefts", "coronal cleft" ], [ "coronal vertebral clefts", "coronal vertebral cleft" ], [ "vertebral coronal clefts", "vertebral coronal cleft" ] ], "xref": [ "UMLS:C1834954" ], "is_a": [ "HP:0008428" ], "is_obsolete": "", "replace_id": "" }, "HP:0003418": { "name": [ "back pain", "back pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.", "synonym": [ [ "back pain", "back pain" ] ], "xref": [ "MSH:D001416", "SNOMEDCT_US:161891005", "UMLS:C0004604" ], "is_a": [ "HP:0000925", "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0003419": { "name": [ "low back pain", "low back pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.", "synonym": [ [ "lower back pain", "low back pain" ] ], "xref": [ "MSH:D017116", "SNOMEDCT_US:279039007", "UMLS:C0024031" ], "is_a": [ "HP:0003418" ], "is_obsolete": "", "replace_id": "" }, "HP:0003421": { "name": [ "obsolete platyspondyly ( childhood )", "obsolete platyspondyly ( childhood )" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000926" }, "HP:0003422": { "name": [ "vertebral segmentation defect", "vertebral segmentation defect" ], "alt_id": [ "HP:0005705" ], "def": "An abnormality related to a defect of vertebral separation during development.", "synonym": [ [ "abnormal spinal segmentation", "abnormal spinal segmentation" ] ], "xref": [ "SNOMEDCT_US:205455005", "UMLS:C0432163" ], "is_a": [ "HP:0003468" ], "is_obsolete": "", "replace_id": "" }, "HP:0003423": { "name": [ "thoracolumbar kyphoscoliosis", "thoracolumbar kyphoscoliosis" ], "alt_id": [], "def": "", "synonym": [ [ "dorsolumbar kyphosis", "dorsolumbar kyphosis" ] ], "xref": [ "UMLS:C1859335" ], "is_a": [ "HP:0002751", "HP:0002944", "HP:0005619" ], "is_obsolete": "", "replace_id": "" }, "HP:0003426": { "name": [ "first dorsal interossei muscle atrophy", "first dorsal interossei muscle atrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1832278" ], "is_a": [ "HP:0007181" ], "is_obsolete": "", "replace_id": "" }, "HP:0003427": { "name": [ "thenar muscle weakness", "thenar muscle weakness" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1832276" ], "is_a": [ "HP:0030237" ], "is_obsolete": "", "replace_id": "" }, "HP:0003429": { "name": [ "cns hypomyelination", "cns hypomyelination" ], "alt_id": [], "def": "Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.", "synonym": [ [ "hypomyelination", "hypomyelination" ] ], "xref": [ "SNOMEDCT_US:111007000", "UMLS:C0544820", "UMLS:C4025616" ], "is_a": [ "HP:0011400" ], "is_obsolete": "", "replace_id": "" }, "HP:0003431": { "name": [ "decreased motor nerve conduction velocity", "decrease motor nerve conduction velocity" ], "alt_id": [ "HP:0000760", "HP:0003379", "HP:0003395", "HP:0003437", "HP:0006907", "HP:0008170" ], "def": "A type of decreased nerve conduction velocity that affects the motor neuron.", "synonym": [ [ "decreased motor ncv", "decrease motor ncv" ], [ "decreased motor nerve conduction velocities", "decrease motor nerve conduction velocity" ], [ "reduced motor nerve conduction velocity", "reduce motor nerve conduction velocity" ] ], "xref": [ "UMLS:C1858729" ], "is_a": [ "HP:0000762", "HP:0040131" ], "is_obsolete": "", "replace_id": "" }, "HP:0003434": { "name": [ "sensory ataxic neuropathy", "sensory ataxic neuropathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1843859" ], "is_a": [ "HP:0000763" ], "is_obsolete": "", "replace_id": "" }, "HP:0003435": { "name": [ "cold - induced hand cramps", "cold - induced hand cramp" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1832279" ], "is_a": [ "HP:0003449" ], "is_obsolete": "", "replace_id": "" }, "HP:0003436": { "name": [ "prolonged miniature endplate currents", "prolonged miniature endplate current" ], "alt_id": [ "HP:0003479" ], "def": "An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.", "synonym": [ [ "prolonged mepc", "prolong mepc" ], [ "prolonged mepp", "prolong mepp" ], [ "prolonged miniature endplate potentials", "prolonged miniature endplate potential" ] ], "xref": [ "UMLS:C1864238" ], "is_a": [ "HP:0003398" ], "is_obsolete": "", "replace_id": "" }, "HP:0003438": { "name": [ "absent achilles reflex", "absent achilles reflex" ], "alt_id": [ "HP:0007032", "HP:0007241" ], "def": "Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.", "synonym": [ [ "absent ankle reflexes", "absent ankle reflex" ] ], "xref": [ "MSH:D012021", "SNOMEDCT_US:274818004", "UMLS:C0558845" ], "is_a": [ "HP:0200101" ], "is_obsolete": "", "replace_id": "" }, "HP:0003440": { "name": [ "horizontal sacrum", "horizontal sacrum" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850558" ], "is_a": [ "HP:0005107" ], "is_obsolete": "", "replace_id": "" }, "HP:0003443": { "name": [ "decreased size of nerve terminals", "decreased size of nerve terminal" ], "alt_id": [], "def": "A reduction in the size of nerve terminals.", "synonym": [], "xref": [ "UMLS:C4025615" ], "is_a": [ "HP:0000759" ], "is_obsolete": "", "replace_id": "" }, "HP:0003444": { "name": [ "emg : chronic denervation signs", "emg : chronic denervation sign" ], "alt_id": [ "HP:0007059" ], "def": "Evidence of chronic denervation on electromyography.", "synonym": [], "xref": [ "UMLS:C4025614" ], "is_a": [ "HP:0003445" ], "is_obsolete": "", "replace_id": "" }, "HP:0003445": { "name": [ "emg : neuropathic changes", "emg : neuropathic change" ], "alt_id": [ "HP:0002178", "HP:0002547", "HP:0007279" ], "def": "The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).", "synonym": [ [ "emg : neurogenic abnormalities", "emg : neurogenic abnormality" ], [ "emg : neurogenic changes", "emg : neurogenic change" ], [ "emg : neurogenic findings", "emg : neurogenic finding" ] ], "xref": [ "UMLS:C4021727" ], "is_a": [ "HP:0003457" ], "is_obsolete": "", "replace_id": "" }, "HP:0003447": { "name": [ "axonal loss", "axonal loss" ], "alt_id": [ "HP:0003360" ], "def": "A reduction in the number of axons in the peripheral nervous system.", "synonym": [], "xref": [ "UMLS:C1832338" ], "is_a": [ "HP:0000764" ], "is_obsolete": "", "replace_id": "" }, "HP:0003448": { "name": [ "decreased sensory nerve conduction velocity", "decreased sensory nerve conduction velocity" ], "alt_id": [ "HP:0006914" ], "def": "Reduced speed of conduction of the action potential along a sensory nerve.", "synonym": [ [ "decreased sensory ncv", "decreased sensory ncv" ], [ "decreased sensory nerve conduction velocities", "decreased sensory nerve conduction velocity" ] ], "xref": [ "UMLS:C1849148" ], "is_a": [ "HP:0000762", "HP:0040132" ], "is_obsolete": "", "replace_id": "" }, "HP:0003449": { "name": [ "cold - induced muscle cramps", "cold - induced muscle cramp" ], "alt_id": [], "def": "Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.", "synonym": [], "xref": [ "UMLS:C1861675" ], "is_a": [ "HP:0003394" ], "is_obsolete": "", "replace_id": "" }, "HP:0003450": { "name": [ "axonal regeneration", "axonal regeneration" ], "alt_id": [], "def": "The presence of axonal regeneration following a previous axonal lesion.", "synonym": [ [ "regenerative activity on nerve biopsy", "regenerative activity on nerve biopsy" ] ], "xref": [ "UMLS:C1854454" ], "is_a": [ "HP:0000764" ], "is_obsolete": "", "replace_id": "" }, "HP:0003451": { "name": [ "increased rate of premature chromosome condensation", "increased rate of premature chromosome condensation" ], "alt_id": [], "def": "An increased rate of premature chromosome condensation.", "synonym": [], "xref": [ "UMLS:C4025613" ], "is_a": [ "HP:0011019" ], "is_obsolete": "", "replace_id": "" }, "HP:0003452": { "name": [ "increased serum iron", "increase serum iron" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:165624002", "UMLS:C0151900" ], "is_a": [ "HP:0040130" ], "is_obsolete": "", "replace_id": "" }, "HP:0003453": { "name": [ "antineutrophil antibody positivity", "antineutrophil antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the serum that react against neutrophils.", "synonym": [ [ "antineutrophil antibodies", "antineutrophil antibody" ], [ "neutrophil antibody positive", "neutrophil antibody positive" ] ], "xref": [ "UMLS:C1858981" ], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0003454": { "name": [ "platelet antibody positive", "platelet antibody positive" ], "alt_id": [], "def": "The presence in the serum of autoantibodies directed against thrombocytes.", "synonym": [ [ "platelet antibody", "platelet antibody" ] ], "xref": [ "UMLS:C1858980" ], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0003455": { "name": [ "elevated circulating long chain fatty acid concentration", "elevate circulate long chain fatty acid concentration" ], "alt_id": [ "HP:0008333", "HP:0045016" ], "def": "Increased concentration of long-chain fatty acids in the blood circulation.", "synonym": [ [ "elevated long chain fatty acids", "elevate long chain fatty acid" ], [ "elevated serum long - chain fatty acids", "elevate serum long - chain fatty acid" ], [ "increased serum long - chain fatty acids", "increase serum long - chain fatty acid" ] ], "xref": [ "UMLS:C1859241" ], "is_a": [ "HP:0010964" ], "is_obsolete": "", "replace_id": "" }, "HP:0003456": { "name": [ "low urinary cyclic amp response to pth administration", "low urinary cyclic amp response to pth administration" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1864105" ], "is_a": [ "HP:0003110" ], "is_obsolete": "", "replace_id": "" }, "HP:0003457": { "name": [ "emg abnormality", "emg abnormality" ], "alt_id": [ "HP:0002177", "HP:0003751", "HP:0003753", "HP:0100286" ], "def": "Abnormal results of investigations using electromyography (EMG).", "synonym": [ [ "abnormal electromyography finding", "abnormal electromyography find" ], [ "abnormal emg", "abnormal emg" ], [ "electromyogram abnormal", "electromyogram abnormal" ], [ "emg abnormalities", "emg abnormality" ] ], "xref": [ "SNOMEDCT_US:274523007", "UMLS:C0476403" ], "is_a": [ "HP:0011804" ], "is_obsolete": "", "replace_id": "" }, "HP:0003458": { "name": [ "emg : myopathic abnormalities", "emg : myopathic abnormality" ], "alt_id": [ "HP:0003322", "HP:0003711", "HP:0009021" ], "def": "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.", "synonym": [ [ "emg : myopathic changes", "emg : myopathic change" ], [ "emg : myopathy", "emg : myopathy" ], [ "myopathic electromyogram", "myopathic electromyogram" ] ], "xref": [ "UMLS:C4021726" ], "is_a": [ "HP:0003198", "HP:0003457" ], "is_obsolete": "", "replace_id": "" }, "HP:0003459": { "name": [ "polyclonal elevation of igm", "polyclonal elevation of igm" ], "alt_id": [], "def": "A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.", "synonym": [], "xref": [ "UMLS:C4025612" ], "is_a": [ "HP:0003496" ], "is_obsolete": "", "replace_id": "" }, "HP:0003460": { "name": [ "decreased circulating total iga", "decrease circulate total iga" ], "alt_id": [], "def": "Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).", "synonym": [ [ "decreased total iga in blood", "decrease total iga in blood" ], [ "total immunoglobulin a deficiency", "total immunoglobulin a deficiency" ] ], "xref": [ "UMLS:C4025611" ], "is_a": [ "HP:0002720" ], "is_obsolete": "", "replace_id": "" }, "HP:0003461": { "name": [ "increased urinary o - linked sialopeptides", "increase urinary o - link sialopeptides" ], "alt_id": [], "def": "Excretion of peptides conjugated to sialic acid in the urine.", "synonym": [], "xref": [ "UMLS:C1836533" ], "is_a": [ "HP:0012067" ], "is_obsolete": "", "replace_id": "" }, "HP:0003462": { "name": [ "elevated 8 - dehydrocholesterol", "elevate 8 - dehydrocholesterol" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1840013" ], "is_a": [ "HP:0003107" ], "is_obsolete": "", "replace_id": "" }, "HP:0003463": { "name": [ "increased extraneuronal autofluorescent lipopigment", "increase extraneuronal autofluorescent lipopigment" ], "alt_id": [], "def": "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.", "synonym": [ [ "lipopigment in extraneuronal cells", "lipopigment in extraneuronal cell" ] ], "xref": [ "UMLS:C1859828" ], "is_a": [ "HP:0011813" ], "is_obsolete": "", "replace_id": "" }, "HP:0003464": { "name": [ "obsolete abnormal cholesterol homeostasis", "obsolete abnormal cholesterol homeostasis" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0003107" }, "HP:0003465": { "name": [ "elevated 8 ( 9 ) - cholestenol", "elevate 8 ( 9 ) - cholestenol" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1840014" ], "is_a": [ "HP:0003107" ], "is_obsolete": "", "replace_id": "" }, "HP:0003466": { "name": [ "paradoxical increased cortisol secretion on dexamethasone suppression test", "paradoxical increase cortisol secretion on dexamethasone suppression test" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1968855" ], "is_a": [ "HP:0011731" ], "is_obsolete": "", "replace_id": "" }, "HP:0003467": { "name": [ "atlantoaxial instability", "atlantoaxial instability" ], "alt_id": [], "def": "Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.", "synonym": [], "xref": [ "SNOMEDCT_US:202820009", "UMLS:C0410653" ], "is_a": [ "HP:0003413" ], "is_obsolete": "", "replace_id": "" }, "HP:0003468": { "name": [ "abnormal vertebral morphology", "abnormal vertebral morphology" ], "alt_id": [ "HP:0005719" ], "def": "An abnormality of one or more of the vertebrae.", "synonym": [ [ "abnormal vertebrae", "abnormal vertebra" ], [ "abnormal vertebral bodies", "abnormal vertebral body" ], [ "abnormality of the vertebrae", "abnormality of the vertebra" ], [ "multiple vertebral anomalies", "multiple vertebral anomaly" ], [ "vertebral anomalies", "vertebral anomaly" ] ], "xref": [ "Fyler:4108", "SNOMEDCT_US:205043005", "SNOMEDCT_US:74877002", "UMLS:C0158775", "UMLS:C4020839", "UMLS:C4020840" ], "is_a": [ "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0003469": { "name": [ "peripheral dysmyelination", "peripheral dysmyelination" ], "alt_id": [], "def": "Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.", "synonym": [], "xref": [ "UMLS:C4025610" ], "is_a": [ "HP:0003130" ], "is_obsolete": "", "replace_id": "" }, "HP:0003470": { "name": [ "paralysis", "paralysis" ], "alt_id": [], "def": "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.", "synonym": [ [ "inability to move", "inability to move" ], [ "paralysis", "paralysis" ] ], "xref": [ "MSH:D010243", "SNOMEDCT_US:44695005", "UMLS:C0522224" ], "is_a": [ "HP:0011442" ], "is_obsolete": "", "replace_id": "" }, "HP:0003472": { "name": [ "hypocalcemic tetany", "hypocalcemic tetany" ], "alt_id": [], "def": "Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.", "synonym": [], "xref": [ "SNOMEDCT_US:190869004", "UMLS:C0151940" ], "is_a": [ "HP:0002901", "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0003473": { "name": [ "fatigable weakness", "fatigable weakness" ], "alt_id": [ "HP:0003399", "HP:0003428", "HP:0100794" ], "def": "A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.", "synonym": [ [ "fatigable weakness of limb muscles", "fatigable weakness of limb muscle" ], [ "generalised muscle weakness due to defect at the neuromuscular junction", "generalise muscle weakness due to defect at the neuromuscular junction" ], [ "generalized muscle weakness due to defect at the neuromuscular junction", "generalize muscle weakness due to defect at the neuromuscular junction" ], [ "myasthenia", "myasthenia" ], [ "myasthenic weakness", "myasthenic weakness" ], [ "proximal muscle weakness due to defect at the neuromuscular junction", "proximal muscle weakness due to defect at the neuromuscular junction" ] ], "xref": [ "UMLS:C0947912" ], "is_a": [ "HP:0001324", "HP:0003398" ], "is_obsolete": "", "replace_id": "" }, "HP:0003474": { "name": [ "somatic sensory dysfunction", "somatic sensory dysfunction" ], "alt_id": [ "HP:0100964" ], "def": "An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.", "synonym": [ [ "sensory impairment", "sensory impairment" ] ], "xref": [ "MSH:D006987", "SNOMEDCT_US:397974008", "SNOMEDCT_US:398026008", "SNOMEDCT_US:59073000", "UMLS:C0020580" ], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0003477": { "name": [ "peripheral axonal neuropathy", "peripheral axonal neuropathy" ], "alt_id": [ "HP:0006814", "HP:0006842", "HP:0007169", "HP:0008304" ], "def": "An abnormality characterized by disruption of the normal functioning of peripheral axons.", "synonym": [ [ "axonal neuropathy", "axonal neuropathy" ], [ "axonal peripheral neuropathy", "axonal peripheral neuropathy" ] ], "xref": [ "SNOMEDCT_US:128208007", "SNOMEDCT_US:60703000", "UMLS:C0270921", "UMLS:C1263857" ], "is_a": [ "HP:0000764", "HP:0009830" ], "is_obsolete": "", "replace_id": "" }, "HP:0003481": { "name": [ "segmental peripheral demyelination / remyelination", "segmental peripheral demyelination / remyelination" ], "alt_id": [ "HP:0003425" ], "def": "A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.", "synonym": [ [ "segmental demyelination / remyelination", "segmental demyelination / remyelination" ] ], "xref": [ "UMLS:C1843077" ], "is_a": [ "HP:0011096" ], "is_obsolete": "", "replace_id": "" }, "HP:0003482": { "name": [ "emg : axonal abnormality", "emg : axonal abnormality" ], "alt_id": [], "def": "Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.", "synonym": [], "xref": [ "UMLS:C4025609" ], "is_a": [ "HP:0003457" ], "is_obsolete": "", "replace_id": "" }, "HP:0003484": { "name": [ "upper limb muscle weakness", "upper limb muscle weakness" ], "alt_id": [], "def": "Weakness of the muscles of the arms.", "synonym": [ [ "decreased arm strength", "decrease arm strength" ], [ "weak arm", "weak arm" ] ], "xref": [ "SNOMEDCT_US:713512009", "UMLS:C1698196" ], "is_a": [ "HP:0003690" ], "is_obsolete": "", "replace_id": "" }, "HP:0003487": { "name": [ "babinski sign", "babinski sign" ], "alt_id": [ "HP:0001352" ], "def": "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.", "synonym": [ [ "extensor plantar reflexes", "extensor plantar reflex" ], [ "extensor plantar response", "extensor plantar response" ], [ "extensor plantar responses", "extensor plantar response" ], [ "positive babinski sign", "positive babinski sign" ] ], "xref": [ "SNOMEDCT_US:246586009", "SNOMEDCT_US:366575004", "UMLS:C0034935" ], "is_a": [ "HP:0007256", "HP:0031828" ], "is_obsolete": "", "replace_id": "" }, "HP:0003489": { "name": [ "acute episodes of neuropathic symptoms", "acute episode of neuropathic symptom" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1867971" ], "is_a": [ "HP:0009830" ], "is_obsolete": "", "replace_id": "" }, "HP:0003490": { "name": [ "obsolete defective dehydrogenation of isovaleryl coa and butyryl coa", "obsolete defective dehydrogenation of isovaleryl coa and butyryl coa" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0003150" }, "HP:0003491": { "name": [ "elevated urine pyrophosphate", "elevate urine pyrophosphate" ], "alt_id": [], "def": "An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.", "synonym": [], "xref": [ "UMLS:C4025607" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0003492": { "name": [ "high urinary gonadotropin level", "high urinary gonadotropin level" ], "alt_id": [], "def": "An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.", "synonym": [], "xref": [ "UMLS:C4025606" ], "is_a": [ "HP:0012029" ], "is_obsolete": "", "replace_id": "" }, "HP:0003493": { "name": [ "antinuclear antibody positivity", "antinuclear antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the serum that react against nuclei or nuclear components.", "synonym": [ [ "antinuclear antibodies", "antinuclear antibody" ], [ "antinuclear antibody positive", "antinuclear antibody positive" ], [ "elevated antinuclear antibody", "elevate antinuclear antibody" ], [ "serum antinuclear antibody", "serum antinuclear antibody" ] ], "xref": [ "SNOMEDCT_US:165850001", "UMLS:C0151480" ], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0003494": { "name": [ "obsolete loss of heterozygosity , multiple chromosomes", "obsolete loss of heterozygosity , multiple chromosome" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0003495": { "name": [ "gm2 - ganglioside accumulation", "gm2 - ganglioside accumulation" ], "alt_id": [], "def": "Cellular accumulation of GM2 gangliosides.", "synonym": [], "xref": [ "UMLS:C1848920" ], "is_a": [ "HP:0004345" ], "is_obsolete": "", "replace_id": "" }, "HP:0003496": { "name": [ "increased circulating igm level", "increase circulate igm level" ], "alt_id": [ "HP:0002962" ], "def": "An abnormally increased level of immunoglobulin M in blood.", "synonym": [ [ "increased igm levels", "increase igm level" ], [ "increased levels of igm", "increased level of igm" ] ], "xref": [ "UMLS:C1839972" ], "is_a": [ "HP:0010702", "HP:0410243" ], "is_obsolete": "", "replace_id": "" }, "HP:0003498": { "name": [ "disproportionate short stature", "disproportionate short stature" ], "alt_id": [ "HP:0008895", "HP:0008900" ], "def": "A kind of short stature in which different regions of the body are shortened to differing extents.", "synonym": [ [ "short stature , disproportionate", "short stature , disproportionate" ], [ "short stature , severe disproportionate", "short stature , severe disproportionate" ] ], "xref": [ "UMLS:C0878659", "UMLS:C1846797" ], "is_a": [ "HP:0004322" ], "is_obsolete": "", "replace_id": "" }, "HP:0003502": { "name": [ "mild short stature", "mild short stature" ], "alt_id": [ "HP:0003503", "HP:0008879", "HP:0008908" ], "def": "A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.", "synonym": [ [ "relative short stature", "relative short stature" ], [ "short stature , mild", "short stature , mild" ] ], "xref": [ "UMLS:C3150077", "UMLS:C4020838" ], "is_a": [ "HP:0003508" ], "is_obsolete": "", "replace_id": "" }, "HP:0003508": { "name": [ "proportionate short stature", "proportionate short stature" ], "alt_id": [ "HP:0003499" ], "def": "A kind of short stature in which different regions of the body are shortened to a comparable extent.", "synonym": [ [ "proportionate small stature", "proportionate small stature" ], [ "short stature , proportionate", "short stature , proportionate" ] ], "xref": [ "UMLS:C0878660" ], "is_a": [ "HP:0004322" ], "is_obsolete": "", "replace_id": "" }, "HP:0003510": { "name": [ "severe short stature", "severe short stature" ], "alt_id": [ "HP:0001424", "HP:0001516", "HP:0003504", "HP:0008867", "HP:0008884", "HP:0008907", "HP:0008920", "HP:0008930" ], "def": "A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.", "synonym": [ [ "dwarfism", "dwarfism" ], [ "proportionate dwarfism", "proportionate dwarfism" ], [ "severe short stature", "severe short stature" ], [ "short stature , extreme", "short stature , extreme" ], [ "short stature , severe", "short stature , severe" ] ], "xref": [ "MSH:D004392", "SNOMEDCT_US:237836003", "SNOMEDCT_US:237837007", "SNOMEDCT_US:422065006", "UMLS:C0013336" ], "is_a": [ "HP:0003508" ], "is_obsolete": "", "replace_id": "" }, "HP:0003513": { "name": [ "reduced ratio of renal calcium clearance to creatinine clearance", "reduce ratio of renal calcium clearance to creatinine clearance" ], "alt_id": [], "def": "A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.", "synonym": [ [ "reduced ration of kidney calcium clearance to creatinine clearance", "reduce ration of kidney calcium clearance to creatinine clearance" ], [ "reduced ration of renal ca clearance to creatinine clearance", "reduce ration of renal ca clearance to creatinine clearance" ], [ "reduced ration of renal ca2+ to creatinine clearance", "reduce ration of renal ca2+ to creatinine clearance" ] ], "xref": [ "UMLS:C4025605" ], "is_a": [ "HP:0011280" ], "is_obsolete": "", "replace_id": "" }, "HP:0003514": { "name": [ "deficiency or absence of cytochrome b ( - 245 )", "deficiency or absence of cytochrome b ( - 245 )" ], "alt_id": [], "def": "", "synonym": [ [ "deficiency or absence of cytochrome b", "deficiency or absence of cytochrome b" ] ], "xref": [ "UMLS:C1844390" ], "is_a": [ "HP:0003287" ], "is_obsolete": "", "replace_id": "" }, "HP:0003517": { "name": [ "birth length greater than 97th percentile", "birth length great than 97th percentile" ], "alt_id": [], "def": "", "synonym": [ [ "fetal overgrowth", "fetal overgrowth" ], [ "foetal overgrowth", "foetal overgrowth" ] ], "xref": [ "UMLS:C1839271" ], "is_a": [ "HP:0000098" ], "is_obsolete": "", "replace_id": "" }, "HP:0003521": { "name": [ "disproportionate short - trunk short stature", "disproportionate short - trunk short stature" ], "alt_id": [ "HP:0001524", "HP:0003500", "HP:0008923" ], "def": "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.", "synonym": [ [ "disproportionate short - trunked dwarfism", "disproportionate short - trunked dwarfism" ], [ "disproportionate short - trunked short stature", "disproportionate short - trunked short stature" ], [ "short - trunked dwarfism", "short - trunked dwarfism" ] ], "xref": [ "UMLS:C1846435" ], "is_a": [ "HP:0003498", "HP:0009121" ], "is_obsolete": "", "replace_id": "" }, "HP:0003524": { "name": [ "decreased methionine synthase activity", "decrease methionine synthase activity" ], "alt_id": [], "def": "A reduction in methionine synthase activity.", "synonym": [ [ "decreased activity of methionine synthase", "decreased activity of methionine synthase" ], [ "methionine synthase activity decreased", "methionine synthase activity decrease" ], [ "methionine synthase deficiency", "methionine synthase deficiency" ], [ "reduced methionine synthase activity", "reduce methionine synthase activity" ] ], "xref": [ "UMLS:C1848580" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003526": { "name": [ "orotic acid crystalluria", "orotic acid crystalluria" ], "alt_id": [], "def": "Formation of crystals owing to an increased concentration of orotic acid in the urine.", "synonym": [], "xref": [ "UMLS:C3278626" ], "is_a": [ "HP:0020074" ], "is_obsolete": "", "replace_id": "" }, "HP:0003527": { "name": [ "hyperprostaglandinuria", "hyperprostaglandinuria" ], "alt_id": [], "def": "An increased concentration of prostaglandin in the urine.", "synonym": [ [ "high urine prostaglandin levels", "high urine prostaglandin level" ] ], "xref": [ "UMLS:C1866498" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0003528": { "name": [ "elevated calcitonin", "elevate calcitonin" ], "alt_id": [], "def": "", "synonym": [ [ "elevated calcitonin", "elevate calcitonin" ] ], "xref": [ "UMLS:C1868394" ], "is_a": [ "HP:0100530" ], "is_obsolete": "", "replace_id": "" }, "HP:0003529": { "name": [ "parathormone - independent increased renal tubular calcium reabsorption", "parathormone - independent increase renal tubular calcium reabsorption" ], "alt_id": [], "def": "An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.", "synonym": [ [ "parathormone - independent increased renal tubular ca reabsorption", "parathormone - independent increase renal tubular ca reabsorption" ], [ "parathormone - independent increased renal tubular ca2+ reabsorption", "parathormone - independent increase renal tubular ca2+ reabsorption" ] ], "xref": [ "UMLS:C4025604" ], "is_a": [ "HP:0003110" ], "is_obsolete": "", "replace_id": "" }, "HP:0003530": { "name": [ "elevated circulating glutaric acid concentration", "elevate circulate glutaric acid concentration" ], "alt_id": [], "def": "An increased concentration of glutaric acid in the blood.", "synonym": [ [ "glutarate acidemia", "glutarate acidemia" ], [ "glutaric acidemia", "glutaric acidemia" ] ], "xref": [ "UMLS:C4025603" ], "is_a": [ "HP:0010995", "HP:0032368" ], "is_obsolete": "", "replace_id": "" }, "HP:0003532": { "name": [ "ornithinuria", "ornithinuria" ], "alt_id": [], "def": "An increased concentration of ornithine in the urine.", "synonym": [], "xref": [ "UMLS:C4025602" ], "is_a": [ "HP:0033098" ], "is_obsolete": "", "replace_id": "" }, "HP:0003533": { "name": [ "reduced acetaldehyde dehydrogenase level", "reduce acetaldehyde dehydrogenase level" ], "alt_id": [], "def": "Decreased level of acetaldehyde dehydrogenase (ADH). ADH and alcohol dehydrogenase (ALDH) are the primary enzymes involved in alcohol metabolism.", "synonym": [ [ "delayed oxidation of acetaldehyde", "delay oxidation of acetaldehyde" ] ], "xref": [ "UMLS:C4025601" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003534": { "name": [ "reduced xanthine dehydrogenase level", "reduce xanthine dehydrogenase level" ], "alt_id": [], "def": "An abnormal reduction in xanthine dehydrogenase level.", "synonym": [ [ "xanthine dehydrogenase deficiency", "xanthine dehydrogenase deficiency" ] ], "xref": [ "MSH:C562584", "SNOMEDCT_US:124147007", "SNOMEDCT_US:72682008", "UMLS:C0268118", "UMLS:C4025600" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003535": { "name": [ "3 - methylglutaconic aciduria", "3 - methylglutaconic aciduria" ], "alt_id": [], "def": "An increased amount of 3-methylglutaconic acid in the urine.", "synonym": [ [ "3 - methylglutaconicaciduria", "3 - methylglutaconicaciduria" ] ], "xref": [ "MSH:C579867", "SNOMEDCT_US:237950009", "UMLS:C3696376" ], "is_a": [ "HP:0031980" ], "is_obsolete": "", "replace_id": "" }, "HP:0003536": { "name": [ "decreased fumarate hydratase activity", "decrease fumarate hydratase activity" ], "alt_id": [], "def": "An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.", "synonym": [], "xref": [ "UMLS:C1853903" ], "is_a": [ "HP:0000816" ], "is_obsolete": "", "replace_id": "" }, "HP:0003537": { "name": [ "hypouricemia", "hypouricemia" ], "alt_id": [], "def": "An abnormally low level of uric acid in the blood.", "synonym": [ [ "low blood uric acid levels", "low blood uric acid level" ] ], "xref": [ "SNOMEDCT_US:4519003", "UMLS:C0221333" ], "is_a": [ "HP:0002157", "HP:0010932" ], "is_obsolete": "", "replace_id": "" }, "HP:0003538": { "name": [ "increased serum iduronate sulfatase level", "increase serum iduronate sulfatase level" ], "alt_id": [], "def": "An increased level of iduronate-2-sulfatase activity in the blood.", "synonym": [ [ "increased serum iduronate sulfatase", "increase serum iduronate sulfatase" ] ], "xref": [ "UMLS:C2673363", "UMLS:C4025599" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003540": { "name": [ "impaired platelet aggregation", "impaired platelet aggregation" ], "alt_id": [ "HP:0008177" ], "def": "An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.", "synonym": [ [ "defective platelet aggregation", "defective platelet aggregation" ], [ "deficient platelet aggregation", "deficient platelet aggregation" ], [ "platelet aggregation defect", "platelet aggregation defect" ] ], "xref": [ "UMLS:C1855853" ], "is_a": [ "HP:0030402" ], "is_obsolete": "", "replace_id": "" }, "HP:0003541": { "name": [ "urinary glycosaminoglycan excretion", "urinary glycosaminoglycan excretion" ], "alt_id": [], "def": "Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.", "synonym": [], "xref": [ "UMLS:C4025598" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0003542": { "name": [ "increased serum pyruvate", "increase serum pyruvate" ], "alt_id": [], "def": "An increased concentration of pyruvate in the blood.", "synonym": [ [ "increased serum pyruvic acid", "increase serum pyruvic acid" ] ], "xref": [ "UMLS:C1849488" ], "is_a": [ "HP:0004366" ], "is_obsolete": "", "replace_id": "" }, "HP:0003546": { "name": [ "exercise intolerance", "exercise intolerance" ], "alt_id": [], "def": "A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.", "synonym": [ [ "decreased ability to exercise", "decrease ability to exercise" ], [ "inability to exercise", "inability to exercise" ], [ "low exercise endurance", "low exercise endurance" ], [ "poor exercise tolerance", "poor exercise tolerance" ] ], "xref": [ "SNOMEDCT_US:267044007", "UMLS:C0424551" ], "is_a": [ "HP:0004302" ], "is_obsolete": "", "replace_id": "" }, "HP:0003547": { "name": [ "shoulder girdle muscle weakness", "shoulder girdle muscle weakness" ], "alt_id": [ "HP:0003695", "HP:0009009" ], "def": "The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.", "synonym": [ [ "muscle weakness , shoulder - girdle", "muscle weakness , shoulder - girdle" ], [ "shoulder girdle weakness", "shoulder girdle weakness" ], [ "shoulder weakness", "shoulder weakness" ], [ "weak shoulder muscles", "weak shoulder muscle" ] ], "xref": [ "SNOMEDCT_US:249940002", "UMLS:C0427063", "UMLS:C0748691" ], "is_a": [ "HP:0001435", "HP:0003325" ], "is_obsolete": "", "replace_id": "" }, "HP:0003548": { "name": [ "subsarcolemmal accumulations of abnormally shaped mitochondria", "subsarcolemmal accumulation of abnormally shape mitochondrion" ], "alt_id": [], "def": "An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.", "synonym": [], "xref": [ "UMLS:C4025597" ], "is_a": [ "HP:0003800" ], "is_obsolete": "", "replace_id": "" }, "HP:0003549": { "name": [ "abnormality of connective tissue", "abnormality of connective tissue" ], "alt_id": [], "def": "Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).", "synonym": [], "xref": [ "UMLS:C4025596" ], "is_a": [ "HP:0033127" ], "is_obsolete": "", "replace_id": "" }, "HP:0003550": { "name": [ "predominantly lower limb lymphedema", "predominantly low limb lymphedema" ], "alt_id": [], "def": "Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.", "synonym": [], "xref": [ "UMLS:C1835228" ], "is_a": [ "HP:0001004" ], "is_obsolete": "", "replace_id": "" }, "HP:0003551": { "name": [ "difficulty climbing stairs", "difficulty climb stair" ], "alt_id": [ "HP:0007019" ], "def": "Reduced ability to climb stairs.", "synonym": [ [ "difficulty walking up stairs", "difficulty walk up stair" ] ], "xref": [ "SNOMEDCT_US:282195009", "UMLS:C0239067" ], "is_a": [ "HP:0004302" ], "is_obsolete": "", "replace_id": "" }, "HP:0003552": { "name": [ "muscle stiffness", "muscle stiffness" ], "alt_id": [ "HP:0009014" ], "def": "A condition in which muscles cannot be moved quickly without accompanying pain or spasm.", "synonym": [], "xref": [ "SNOMEDCT_US:16046003", "UMLS:C0221170" ], "is_a": [ "HP:0011804" ], "is_obsolete": "", "replace_id": "" }, "HP:0003553": { "name": [ "obsolete cellulitis due to immunodeficiency", "obsolete cellulitis due to immunodeficiency" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0100658" }, "HP:0003554": { "name": [ "type 2 muscle fiber atrophy", "type 2 muscle fiber atrophy" ], "alt_id": [], "def": "Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.", "synonym": [ [ "type 2 fiber atrophy", "type 2 fiber atrophy" ], [ "type 2 fibre atrophy", "type 2 fibre atrophy" ], [ "type 2 muscle fibre atrophy", "type 2 muscle fibre atrophy" ] ], "xref": [ "UMLS:C1864580" ], "is_a": [ "HP:0100295" ], "is_obsolete": "", "replace_id": "" }, "HP:0003555": { "name": [ "muscle fiber splitting", "muscle fiber splitting" ], "alt_id": [], "def": "Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.", "synonym": [ [ "fiber splitting", "fiber splitting" ], [ "fibre splitting", "fibre splitting" ], [ "muscle fibre splitting", "muscle fibre splitting" ] ], "xref": [ "UMLS:C1836057" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0003557": { "name": [ "increased variability in muscle fiber diameter", "increase variability in muscle fiber diameter" ], "alt_id": [ "HP:0003556" ], "def": "An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.", "synonym": [ [ "increased fiber size variation", "increase fiber size variation" ], [ "increased fibre size variation", "increase fibre size variation" ], [ "increased variability in muscle fiber size", "increase variability in muscle fiber size" ], [ "increased variability in muscle fibre diameter", "increase variability in muscle fibre diameter" ], [ "increased variability in muscle fibre size", "increase variability in muscle fibre size" ], [ "increased variation in fiber size", "increase variation in fiber size" ], [ "increased variation in fibre size", "increase variation in fibre size" ], [ "increased variation in muscle fiber size", "increase variation in muscle fiber size" ], [ "increased variation in muscle fibre size", "increase variation in muscle fibre size" ], [ "variation in muscle fiber size", "variation in muscle fiber size" ], [ "variation in muscle fibre size", "variation in muscle fibre size" ] ], "xref": [ "UMLS:C1843700" ], "is_a": [ "HP:0012084" ], "is_obsolete": "", "replace_id": "" }, "HP:0003558": { "name": [ "viral infection - induced rhabdomyolysis", "viral infection - induced rhabdomyolysis" ], "alt_id": [], "def": "Rhabdomyolysis induced by a viral infection.", "synonym": [], "xref": [ "UMLS:C4025595" ], "is_a": [ "HP:0003201" ], "is_obsolete": "", "replace_id": "" }, "HP:0003559": { "name": [ "muscle hyperirritability", "muscle hyperirritability" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1853701" ], "is_a": [ "HP:0011804" ], "is_obsolete": "", "replace_id": "" }, "HP:0003560": { "name": [ "muscular dystrophy", "muscular dystrophy" ], "alt_id": [ "HP:0003544", "HP:0003806" ], "def": "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.", "synonym": [ [ "muscle biopsy shows dystrophic changes", "muscle biopsy show dystrophic change" ] ], "xref": [ "MSH:D009136", "SNOMEDCT_US:193225000", "SNOMEDCT_US:73297009", "UMLS:C0026850", "UMLS:C1864711" ], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0003561": { "name": [ "birth length less than 3rd percentile", "birth length less than 3rd percentile" ], "alt_id": [], "def": "", "synonym": [ [ "birth length < 3rd percentile", "birth length < 3rd percentile" ] ], "xref": [ "UMLS:C1855650" ], "is_a": [ "HP:0004322" ], "is_obsolete": "", "replace_id": "" }, "HP:0003562": { "name": [ "abnormal metaphyseal vascular invasion", "abnormal metaphyseal vascular invasion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3277127" ], "is_a": [ "HP:0000944" ], "is_obsolete": "", "replace_id": "" }, "HP:0003563": { "name": [ "decreased ldl cholesterol concentration", "decrease ldl cholesterol concentration" ], "alt_id": [], "def": "An decreased concentration of low-density lipoprotein cholesterol in the blood.", "synonym": [ [ "decreased circulating low - density lipoprotein levels", "decrease circulate low - density lipoprotein level" ], [ "decreased ldl", "decrease ldl" ], [ "decreased ldlc concentration", "decrease ldlc concentration" ], [ "hypobetalipoproteinemia", "hypobetalipoproteinemia" ] ], "xref": [ "MSH:D006995", "SNOMEDCT_US:190786004", "UMLS:C0020597", "UMLS:C0853085" ], "is_a": [ "HP:0010981", "HP:0031886" ], "is_obsolete": "", "replace_id": "" }, "HP:0003564": { "name": [ "folate - dependent fragile site at xq28", "folate - dependent fragile site at xq28" ], "alt_id": [], "def": "The presence of a folate sensitive fragile site at chromosome Xq28.", "synonym": [], "xref": [ "UMLS:C1839785" ], "is_a": [ "HP:0040012" ], "is_obsolete": "", "replace_id": "" }, "HP:0003565": { "name": [ "elevated erythrocyte sedimentation rate", "elevate erythrocyte sedimentation rate" ], "alt_id": [], "def": "An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.", "synonym": [ [ "elevated esr", "elevate esr" ], [ "elevated sedimentation rate", "elevate sedimentation rate" ], [ "high erythrocyte sedimentation rate", "high erythrocyte sedimentation rate" ], [ "high esr", "high esr" ], [ "increased erythrocyte sedimentation rate", "increase erythrocyte sedimentation rate" ], [ "raised erythrocyte sedimentation rate", "raise erythrocyte sedimentation rate" ] ], "xref": [ "SNOMEDCT_US:165468009", "UMLS:C0151632" ], "is_a": [ "HP:0025021", "HP:0033331" ], "is_obsolete": "", "replace_id": "" }, "HP:0003566": { "name": [ "increased serum prostaglandin e2", "increase serum prostaglandin e2" ], "alt_id": [ "HP:0008298" ], "def": "An increased concentration of prostaglandin E2 in the blood.", "synonym": [ [ "elevated prostaglandin e2", "elevate prostaglandin e2" ] ], "xref": [ "UMLS:C3150358" ], "is_a": [ "HP:0011023" ], "is_obsolete": "", "replace_id": "" }, "HP:0003568": { "name": [ "decreased glucosephosphate isomerase level", "decrease glucosephosphate isomerase level" ], "alt_id": [ "HP:0003290" ], "def": "A decreased level of glucose-6-phosphate isomerase.", "synonym": [ [ "decreased glucose phosphate isomerase activity", "decrease glucose phosphate isomerase activity" ], [ "glucosephosphate isomerase deficiency", "glucosephosphate isomerase deficiency" ], [ "phosphohexose isomerase deficiency", "phosphohexose isomerase deficiency" ] ], "xref": [ "SNOMEDCT_US:124669001", "UMLS:C1291611" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003570": { "name": [ "molybdenum cofactor deficiency", "molybdenum cofactor deficiency" ], "alt_id": [], "def": "Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase.", "synonym": [], "xref": [ "MSH:C535811", "SNOMEDCT_US:29692004", "UMLS:C0268119" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003571": { "name": [ "propionic acidemia", "propionic acidemia" ], "alt_id": [], "def": "Increased concentration of proprionic acid in the blood circulation.", "synonym": [], "xref": [ "MSH:D056693", "SNOMEDCT_US:124718009", "SNOMEDCT_US:69080001", "UMLS:C0268579" ], "is_a": [ "HP:0032368" ], "is_obsolete": "", "replace_id": "" }, "HP:0003572": { "name": [ "low plasma citrulline", "low plasma citrulline" ], "alt_id": [], "def": "A decreased concentration of citrulline in the blood.", "synonym": [], "xref": [ "UMLS:C1839532" ], "is_a": [ "HP:0011965" ], "is_obsolete": "", "replace_id": "" }, "HP:0003573": { "name": [ "increased total bilirubin", "increase total bilirubin" ], "alt_id": [ "HP:0008168" ], "def": "Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.", "synonym": [ [ "high bili total", "high bili total" ], [ "increased bilirubin", "increase bilirubin" ] ], "xref": [ "SNOMEDCT_US:176271000119108", "UMLS:C0741494" ], "is_a": [ "HP:0002904" ], "is_obsolete": "", "replace_id": "" }, "HP:0003574": { "name": [ "positive regitine blocking test", "positive regitine block test" ], "alt_id": [], "def": "A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.", "synonym": [], "xref": [ "UMLS:C4025594" ], "is_a": [ "HP:0002640" ], "is_obsolete": "", "replace_id": "" }, "HP:0003575": { "name": [ "increased intracellular sodium", "increase intracellular sodium" ], "alt_id": [], "def": "An abnormally increased sodium concentration in the cytosol.", "synonym": [ [ "high intracellular na", "high intracellular na" ], [ "increased intracellular na+ levels", "increase intracellular na+ level" ] ], "xref": [ "UMLS:C4025593" ], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:0003577": { "name": [ "congenital onset", "congenital onset" ], "alt_id": [ "HP:0003595", "HP:0003601", "HP:0003624", "HP:0003660", "HP:0003666" ], "def": "A phenotypic abnormality that is present at birth.", "synonym": [ [ "intrauterine onset", "intrauterine onset" ], [ "onset at birth", "onset at birth" ], [ "onset in utero", "onset in utero" ], [ "prenatal onset", "prenatal onset" ], [ "symptoms present at birth", "symptom present at birth" ] ], "xref": [ "UMLS:C1836142", "UMLS:C2752013" ], "is_a": [ "HP:0003674" ], "is_obsolete": "", "replace_id": "" }, "HP:0003581": { "name": [ "adult onset", "adult onset" ], "alt_id": [ "HP:0003585", "HP:0003598", "HP:0003627", "HP:0003662", "HP:0003669" ], "def": "Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.", "synonym": [ [ "onset in adulthood", "onset in adulthood" ], [ "onset in early adulthood", "onset in early adulthood" ], [ "symptoms begin in adulthood", "symptom begin in adulthood" ] ], "xref": [ "UMLS:C1853562" ], "is_a": [ "HP:0003674" ], "is_obsolete": "", "replace_id": "" }, "HP:0003584": { "name": [ "late onset", "late onset" ], "alt_id": [], "def": "A type of adult onset with onset of symptoms after the age of 60 years.", "synonym": [], "xref": [ "UMLS:C4025592" ], "is_a": [ "HP:0003581" ], "is_obsolete": "", "replace_id": "" }, "HP:0003587": { "name": [ "insidious onset", "insidious onset" ], "alt_id": [], "def": "Gradual, very slow onset of disease manifestations.", "synonym": [ [ "gradual onset", "gradual onset" ] ], "xref": [ "SNOMEDCT_US:367326009", "SNOMEDCT_US:61751001", "UMLS:C0332164", "UMLS:C1298634" ], "is_a": [ "HP:0011008" ], "is_obsolete": "", "replace_id": "" }, "HP:0003593": { "name": [ "infantile onset", "infantile onset" ], "alt_id": [ "HP:0003576", "HP:0003579", "HP:0003591", "HP:0003594", "HP:0003599", "HP:0003600", "HP:0003629", "HP:0003631", "HP:0003667", "HP:0003672", "HP:0010573" ], "def": "Onset of signs or symptoms of disease between 28 days to one year of life.", "synonym": [ [ "infantile onset", "infantile onset" ], [ "onset in first year of life", "onset in first year of life" ], [ "onset in infancy", "onset in infancy" ] ], "xref": [ "UMLS:C1848924" ], "is_a": [ "HP:0410280" ], "is_obsolete": "", "replace_id": "" }, "HP:0003596": { "name": [ "middle age onset", "middle age onset" ], "alt_id": [], "def": "A type of adult onset with onset of symptoms at the age of 40 to 60 years.", "synonym": [], "xref": [ "UMLS:C1969363" ], "is_a": [ "HP:0003581" ], "is_obsolete": "", "replace_id": "" }, "HP:0003606": { "name": [ "absent urinary urothione", "absent urinary urothione" ], "alt_id": [], "def": "Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.", "synonym": [], "xref": [ "UMLS:C4025591" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0003607": { "name": [ "4 - hydroxyphenylacetic aciduria", "4 - hydroxyphenylacetic aciduria" ], "alt_id": [], "def": "Increased concentration of 4-hydroxyphenylacetic acid in the urine.", "synonym": [], "xref": [ "MSH:C535315", "UMLS:C1848680" ], "is_a": [ "HP:0040156" ], "is_obsolete": "", "replace_id": "" }, "HP:0003609": { "name": [ "foam cells with lamellar inclusion bodies", "foam cell with lamellar inclusion body" ], "alt_id": [], "def": "The presence of foam cells that contain lamellar inclusion bodies.", "synonym": [], "xref": [ "UMLS:C4025590" ], "is_a": [ "HP:0003651" ], "is_obsolete": "", "replace_id": "" }, "HP:0003610": { "name": [ "fibroblast metachromasia", "fibroblast metachromasia" ], "alt_id": [], "def": "Increased cytoplasmic staining of fibroblasts with toluidine blue.", "synonym": [], "xref": [ "UMLS:C1835008" ], "is_a": [ "HP:0003653" ], "is_obsolete": "", "replace_id": "" }, "HP:0003612": { "name": [ "positive ferric chloride test", "positive ferric chloride test" ], "alt_id": [], "def": "If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.", "synonym": [ [ "positive fecl3 test", "positive fecl3 test" ] ], "xref": [ "UMLS:C4025589" ], "is_a": [ "HP:0010893" ], "is_obsolete": "", "replace_id": "" }, "HP:0003613": { "name": [ "antiphospholipid antibody positivity", "antiphospholipid antibody positivity" ], "alt_id": [], "def": "The presence of circulating autoantibodies to phospholipids.", "synonym": [ [ "antiphospholipid antibodies", "antiphospholipid antibody" ], [ "antiphospholipid antibody", "antiphospholipid antibody" ], [ "phospholipid antibody positivity", "phospholipid antibody positivity" ] ], "xref": [ "UMLS:C4019436" ], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0003614": { "name": [ "trimethylaminuria", "trimethylaminuria" ], "alt_id": [], "def": "Increased concentration of trimethylamine in the urine.", "synonym": [ [ "high urine trimethylamine levels", "high urine trimethylamine level" ] ], "xref": [ "MSH:C536561", "SNOMEDCT_US:237959005", "UMLS:C0342739" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0003616": { "name": [ "premature separation of centromeric heterochromatin", "premature separation of centromeric heterochromatin" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1849316" ], "is_a": [ "HP:0200024" ], "is_obsolete": "", "replace_id": "" }, "HP:0003621": { "name": [ "juvenile onset", "juvenile onset" ], "alt_id": [ "HP:0003578", "HP:0003580", "HP:0003582", "HP:0003583", "HP:0003589", "HP:0003592", "HP:0003604", "HP:0003619", "HP:0003620", "HP:0003625", "HP:0003659", "HP:0003661", "HP:0003670" ], "def": "Onset of signs or symptoms of disease between the age of 5 and 15 years.", "synonym": [ [ "signs and symptoms begin before 15 years of age", "sign and symptom begin before 15 year of age" ] ], "xref": [ "UMLS:C4025588" ], "is_a": [ "HP:0410280" ], "is_obsolete": "", "replace_id": "" }, "HP:0003623": { "name": [ "neonatal onset", "neonatal onset" ], "alt_id": [ "HP:0003622" ], "def": "Onset of signs or symptoms of disease within the first 28 days of life.", "synonym": [ [ "neonatal onset", "neonatal onset" ], [ "onset in first weeks of life", "onset in first week of life" ], [ "onset in neonatal period", "onset in neonatal period" ] ], "xref": [ "UMLS:C1855106" ], "is_a": [ "HP:0003674" ], "is_obsolete": "", "replace_id": "" }, "HP:0003634": { "name": [ "amyoplasia", "amyoplasia" ], "alt_id": [ "HP:0008990" ], "def": "Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.", "synonym": [ [ "absent muscles since birth", "absent muscle since birth" ], [ "congenital absence of muscles", "congenital absence of muscle" ] ], "xref": [ "SNOMEDCT_US:205532005", "UMLS:C0432185" ], "is_a": [ "HP:0100854" ], "is_obsolete": "", "replace_id": "" }, "HP:0003635": { "name": [ "loss of subcutaneous adipose tissue in limbs", "loss of subcutaneous adipose tissue in limb" ], "alt_id": [ "HP:0003757" ], "def": "Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.", "synonym": [ [ "loss of fat tissue below the skin in limbs", "loss of fat tissue below the skin in limb" ], [ "loss of subcutaneous adipose tissue from extremities", "loss of subcutaneous adipose tissue from extremity" ] ], "xref": [ "UMLS:C1837764" ], "is_a": [ "HP:0008887" ], "is_obsolete": "", "replace_id": "" }, "HP:0003637": { "name": [ "reduced 4 - hydroxyphenylpyruvate dioxygenase level", "reduce 4 - hydroxyphenylpyruvate dioxygenase level" ], "alt_id": [], "def": "An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level.", "synonym": [ [ "reducted hppd activity", "reducted hppd activity" ] ], "xref": [ "UMLS:C4025587" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003639": { "name": [ "elevated urinary epinephrine", "elevate urinary epinephrine" ], "alt_id": [], "def": "An increased concentration of adrenaline in the urine.", "synonym": [ [ "increased urinary epinephrine", "increase urinary epinephrine" ] ], "xref": [ "UMLS:C1868393" ], "is_a": [ "HP:0011976" ], "is_obsolete": "", "replace_id": "" }, "HP:0003640": { "name": [ "cns foam cells", "cns foam cell" ], "alt_id": [], "def": "The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system.", "synonym": [], "xref": [ "UMLS:C1843373" ], "is_a": [ "HP:0003651" ], "is_obsolete": "", "replace_id": "" }, "HP:0003641": { "name": [ "hemoglobinuria", "hemoglobinuria" ], "alt_id": [], "def": "The presence of free hemoglobin in the urine.", "synonym": [ [ "haemoglobin in urine", "haemoglobin in urine" ], [ "hemoglobin in urine", "hemoglobin in urine" ] ], "xref": [ "MSH:D006456", "SNOMEDCT_US:68600005", "UMLS:C0019048" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0003642": { "name": [ "type i transferrin isoform profile", "type i transferrin isoform profile" ], "alt_id": [], "def": "Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.", "synonym": [ [ "abnormal isoelectric focusing of serum transferrin , type i pattern", "abnormal isoelectric focusing of serum transferrin , type i pattern" ], [ "isoelectric focusing of serum transferrin consistent with cdg type i", "isoelectric focusing of serum transferrin consistent with cdg type i" ], [ "type 1 transferrin isoform profile", "type 1 transferrin isoform profile" ] ], "xref": [ "UMLS:C1837899" ], "is_a": [ "HP:0003160" ], "is_obsolete": "", "replace_id": "" }, "HP:0003643": { "name": [ "sulfite oxidase deficiency", "sulfite oxidase deficiency" ], "alt_id": [], "def": "Abnormally reduced sulfite oxidase level.", "synonym": [], "xref": [ "MSH:C538141", "SNOMEDCT_US:367368009", "UMLS:C0268624" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003645": { "name": [ "prolonged partial thromboplastin time", "prolong partial thromboplastin time" ], "alt_id": [], "def": "Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.", "synonym": [ [ "abnormal partial thromboplastin time", "abnormal partial thromboplastin time" ], [ "delayed thromboplastin generation", "delay thromboplastin generation" ], [ "partial thromboplastin time prolonged", "partial thromboplastin time prolong" ], [ "prolonged activated partial thromboplastin time", "prolong activate partial thromboplastin time" ], [ "prolonged ptt", "prolong ptt" ] ], "xref": [ "SNOMEDCT_US:409675001", "UMLS:C0240671" ], "is_a": [ "HP:0001928" ], "is_obsolete": "", "replace_id": "" }, "HP:0003646": { "name": [ "bicarbonaturia", "bicarbonaturia" ], "alt_id": [], "def": "Abnormally increased concentration of hydrogencarbonate in the urine.", "synonym": [ [ "increased urine bicarbonate concentration", "increase urine bicarbonate concentration" ], [ "increased urine hco3 concentration", "increase urine hco3 concentration" ] ], "xref": [ "UMLS:C1839865" ], "is_a": [ "HP:0011279" ], "is_obsolete": "", "replace_id": "" }, "HP:0003647": { "name": [ "electron transfer flavoprotein - ubiquinone oxidoreductase defect", "electron transfer flavoprotein - ubiquinone oxidoreductase defect" ], "alt_id": [], "def": "A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase.", "synonym": [], "xref": [ "UMLS:C4025586" ], "is_a": [ "HP:0003287" ], "is_obsolete": "", "replace_id": "" }, "HP:0003648": { "name": [ "lacticaciduria", "lacticaciduria" ], "alt_id": [], "def": "An increased concentration of lactic acid in the urine.", "synonym": [ [ "high urine lactic acid levels", "high urine lactic acid level" ], [ "increased urine lactate", "increase urine lactate" ] ], "xref": [ "UMLS:C4025585" ], "is_a": [ "HP:0012072" ], "is_obsolete": "", "replace_id": "" }, "HP:0003649": { "name": [ "abnormality of glycoside metabolism", "abnormality of glycoside metabolism" ], "alt_id": [], "def": "Abnormality of glycoside metabolism.", "synonym": [], "xref": [ "UMLS:C4025584" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003651": { "name": [ "foam cells", "foam cell" ], "alt_id": [ "HP:0003650" ], "def": "The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.", "synonym": [ [ "foamy histiocytes", "foamy histiocyte" ], [ "foamy macrophages", "foamy macrophage" ], [ "lipid - laden histiocytes", "lipid - laden histiocyte" ], [ "presence of foam cells", "presence of foam cell" ] ], "xref": [ "MSH:D005487", "SNOMEDCT_US:16980002", "UMLS:C0016390" ], "is_a": [ "HP:0002621" ], "is_obsolete": "", "replace_id": "" }, "HP:0003652": { "name": [ "recurrent myoglobinuria", "recurrent myoglobinuria" ], "alt_id": [ "HP:0008313" ], "def": "Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.", "synonym": [ [ "myoglobinuria , episodic", "myoglobinuria , episodic" ], [ "myoglobinuria , recurrent", "myoglobinuria , recurrent" ] ], "xref": [ "MSH:C564018", "UMLS:C1838877" ], "is_a": [ "HP:0002913" ], "is_obsolete": "", "replace_id": "" }, "HP:0003653": { "name": [ "cellular metachromasia", "cellular metachromasia" ], "alt_id": [], "def": "Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans.", "synonym": [], "xref": [ "UMLS:C4025583" ], "is_a": [ "HP:0011020" ], "is_obsolete": "", "replace_id": "" }, "HP:0003654": { "name": [ "reduced dihydropyrimidine dehydrogenase level", "reduce dihydropyrimidine dehydrogenase level" ], "alt_id": [], "def": "An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level.", "synonym": [ [ "dihydropyrimidine dehydrogenase deficiency", "dihydropyrimidine dehydrogenase deficiency" ] ], "xref": [ "MSH:D054067", "SNOMEDCT_US:77365006", "UMLS:C1959620", "UMLS:C4025582" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003655": { "name": [ "reduced level of n - acetylglucosaminyltransferase ii", "reduce level of n - acetylglucosaminyltransferase ii" ], "alt_id": [], "def": "An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.", "synonym": [ [ "deficient n - acetylglucosaminyltransferase ii", "deficient n - acetylglucosaminyltransferase ii" ] ], "xref": [ "UMLS:C4021725" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003656": { "name": [ "decreased beta - glucocerebrosidase level", "decrease beta - glucocerebrosidase level" ], "alt_id": [], "def": "Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose.", "synonym": [ [ "decreased lysosomal acid glucosylceramidase activity", "decrease lysosomal acid glucosylceramidase activity" ] ], "xref": [ "UMLS:C1842710" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0003657": { "name": [ "granular osmiophilic deposits ( grod ) in cells", "granular osmiophilic deposit ( grod ) in cell" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1859833" ], "is_a": [ "HP:0004356" ], "is_obsolete": "", "replace_id": "" }, "HP:0003658": { "name": [ "hypomethioninemia", "hypomethioninemia" ], "alt_id": [], "def": "A decreased concentration of methionine in the blood.", "synonym": [ [ "decreased plasma methionine", "decrease plasma methionine" ], [ "decreased serum methionine", "decrease serum methionine" ] ], "xref": [ "UMLS:C1848555" ], "is_a": [ "HP:0010901" ], "is_obsolete": "", "replace_id": "" }, "HP:0003665": { "name": [ "amyotrophy of the musculature of the pelvis", "amyotrophy of the musculature of the pelvis" ], "alt_id": [], "def": "Muscular atrophy affecting the muscles of the pelvis.", "synonym": [], "xref": [ "UMLS:C4025581" ], "is_a": [ "HP:0008988" ], "is_obsolete": "", "replace_id": "" }, "HP:0003674": { "name": [ "onset", "onset" ], "alt_id": [ "HP:0003588", "HP:0003590", "HP:0003597", "HP:0003602", "HP:0003603", "HP:0003618", "HP:0003626", "HP:0003628", "HP:0003630", "HP:0003663", "HP:0003664", "HP:0003668", "HP:0011007" ], "def": "The age group in which disease manifestations appear.", "synonym": [ [ "age of onset", "age of onset" ], [ "age symptoms begin", "age symptom begin" ] ], "xref": [ "MSH:D017668", "UMLS:C0206132" ], "is_a": [ "HP:0031797" ], "is_obsolete": "", "replace_id": "" }, "HP:0003676": { "name": [ "progressive", "progressive" ], "alt_id": [], "def": "Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age.", "synonym": [ [ "progressive disorder", "progressive disorder" ], [ "worsens with time", "worsens with time" ] ], "xref": [ "SNOMEDCT_US:252157006", "SNOMEDCT_US:255314001", "UMLS:C0205329", "UMLS:C1864985" ], "is_a": [ "HP:0003679" ], "is_obsolete": "", "replace_id": "" }, "HP:0003677": { "name": [ "slowly progressive", "slowly progressive" ], "alt_id": [ "HP:0003675", "HP:0003681" ], "def": "Applies to a disease manifestation that only slowly increases in scope or severity over the course of time.", "synonym": [ [ "signs and symptoms worsen slowly with time", "sign and symptom worsen slowly with time" ], [ "slow disease progression", "slow disease progression" ], [ "slow progression", "slow progression" ], [ "slowly progressive disorder", "slowly progressive disorder" ] ], "xref": [ "UMLS:C1854494" ], "is_a": [ "HP:0003679" ], "is_obsolete": "", "replace_id": "" }, "HP:0003678": { "name": [ "rapidly progressive", "rapidly progressive" ], "alt_id": [], "def": "Applies to a disease manifestation that quickly increases in scope or severity over the course of time.", "synonym": [ [ "rapid progression", "rapid progression" ], [ "rapidly progressive disorder", "rapidly progressive disorder" ], [ "worsening quickly", "worsen quickly" ] ], "xref": [ "UMLS:C1838681", "UMLS:C1850776" ], "is_a": [ "HP:0003679" ], "is_obsolete": "", "replace_id": "" }, "HP:0003679": { "name": [ "pace of progression", "pace of progression" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025580" ], "is_a": [ "HP:0031797" ], "is_obsolete": "", "replace_id": "" }, "HP:0003680": { "name": [ "nonprogressive", "nonprogressive" ], "alt_id": [ "HP:0003685" ], "def": "Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age.", "synonym": [ [ "does not worsen", "do not worsen" ], [ "non - progressive", "non - progressive" ], [ "nonprogressive course", "nonprogressive course" ], [ "nonprogressive disorder", "nonprogressive disorder" ], [ "stationary", "stationary" ] ], "xref": [ "SNOMEDCT_US:702322003", "UMLS:C3839460" ], "is_a": [ "HP:0003679" ], "is_obsolete": "", "replace_id": "" }, "HP:0003682": { "name": [ "variable progression rate", "variable progression rate" ], "alt_id": [], "def": "Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another.", "synonym": [], "xref": [ "UMLS:C1970284" ], "is_a": [ "HP:0003679" ], "is_obsolete": "", "replace_id": "" }, "HP:0003683": { "name": [ "large beaked nose", "large beak nose" ], "alt_id": [], "def": "", "synonym": [ [ "large beaked nose", "large beak nose" ] ], "xref": [ "UMLS:C4025579" ], "is_a": [ "HP:0011119" ], "is_obsolete": "", "replace_id": "" }, "HP:0003687": { "name": [ "centrally nucleated skeletal muscle fibers", "centrally nucleated skeletal muscle fiber" ], "alt_id": [], "def": "An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).", "synonym": [ [ "central nuclei", "central nucleus" ], [ "centralised nuclei", "centralise nucleus" ], [ "centralised sarcomeric nuclei", "centralise sarcomeric nucleus" ], [ "centralized nuclei", "centralize nucleus" ], [ "centralized sarcomeric nuclei", "centralize sarcomeric nucleus" ], [ "centrally nucleated skeletal muscle fibres", "centrally nucleated skeletal muscle fibre" ] ], "xref": [ "UMLS:C1842170" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0003688": { "name": [ "cytochrome c oxidase - negative muscle fibers", "cytochrome c oxidase - negative muscle fiber" ], "alt_id": [ "HP:0003734", "HP:0009006" ], "def": "An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.", "synonym": [ [ "cytochrome c oxidase deficiency in skeletal muscle", "cytochrome c oxidase deficiency in skeletal muscle" ], [ "cytochrome c oxidase - negative muscle fibres", "cytochrome c oxidase - negative muscle fibre" ], [ "decreased activity of cytochrome c oxidase in muscle tissue", "decreased activity of cytochrome c oxidase in muscle tissue" ], [ "decreased skeletal muscle cytochrome c oxidase activity", "decrease skeletal muscle cytochrome c oxidase activity" ] ], "xref": [ "UMLS:C4021724" ], "is_a": [ "HP:0003800" ], "is_obsolete": "", "replace_id": "" }, "HP:0003689": { "name": [ "multiple mitochondrial dna deletions", "multiple mitochondrial dna deletion" ], "alt_id": [ "HP:0003801" ], "def": "The presence of multiple deletions of mitochondrial DNA (mtDNA).", "synonym": [ [ "multiple mtdna deletions", "multiple mtdna deletion" ] ], "xref": [ "UMLS:C3277376" ], "is_a": [ "HP:0009141" ], "is_obsolete": "", "replace_id": "" }, "HP:0003690": { "name": [ "limb muscle weakness", "limb muscle weakness" ], "alt_id": [ "HP:0002534" ], "def": "Reduced strength and weakness of the muscles of the arms and legs.", "synonym": [ [ "limb muscle weakness", "limb muscle weakness" ], [ "limb weakness", "limb weakness" ] ], "xref": [ "SNOMEDCT_US:713514005", "UMLS:C0587246" ], "is_a": [ "HP:0001324", "HP:0009127" ], "is_obsolete": "", "replace_id": "" }, "HP:0003691": { "name": [ "scapular winging", "scapular winging" ], "alt_id": [ "HP:0000783" ], "def": "Abnormal protrusion of the scapula away from the surface of the back.", "synonym": [ [ "scapula alata", "scapula alata" ], [ "scapular weakness", "scapular weakness" ], [ "winged scapulae", "wing scapula" ], [ "winged scapulas", "wing scapula" ], [ "winged shoulder blade", "wing shoulder blade" ] ], "xref": [ "MEDDRA:10067628 \"Winged scapula\"", "SNOMEDCT_US:17211005", "UMLS:C0240953", "UMLS:C4072849" ], "is_a": [ "HP:0000782", "HP:0001435" ], "is_obsolete": "", "replace_id": "" }, "HP:0003693": { "name": [ "distal amyotrophy", "distal amyotrophy" ], "alt_id": [ "HP:0002484", "HP:0002934", "HP:0003486", "HP:0003699", "HP:0006786", "HP:0006864", "HP:0008937", "HP:0008958", "HP:0009015", "HP:0009040", "HP:0009065" ], "def": "Muscular atrophy affecting muscles in the distal portions of the extremities.", "synonym": [ [ "amyotrophy of distal limb muscles", "amyotrophy of distal limb muscle" ], [ "distal amyotrophy , especially of the hands and feet", "distal amyotrophy , especially of the hand and foot" ], [ "distal limb muscle atrophy", "distal limb muscle atrophy" ], [ "distal muscle atrophy", "distal muscle atrophy" ], [ "distal muscle atrophy , upper and lower limbs", "distal muscle atrophy , upper and low limb" ], [ "distal muscle degeneration", "distal muscle degeneration" ], [ "distal muscle wasting", "distal muscle waste" ], [ "distal muscular atrophy", "distal muscular atrophy" ], [ "muscle atrophy , distal", "muscle atrophy , distal" ] ], "xref": [ "UMLS:C1848736" ], "is_a": [ "HP:0003202" ], "is_obsolete": "", "replace_id": "" }, "HP:0003694": { "name": [ "late - onset proximal muscle weakness", "late - onset proximal muscle weakness" ], "alt_id": [], "def": "Lack of strength of the proximal musculature occurring late in the clinical course.", "synonym": [], "xref": [ "UMLS:C4025578" ], "is_a": [ "HP:0003701" ], "is_obsolete": "", "replace_id": "" }, "HP:0003696": { "name": [ "absent epiphysis of the distal phalanx of the 5th finger", "absent epiphysis of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.", "synonym": [ [ "absent end part of the outermost bone of the little finger", "absent end part of the outermost bone of the little finger" ], [ "absent end part of the outermost bone of the pinkie finger", "absent end part of the outermost bone of the pinkie finger" ], [ "absent end part of the outermost bone of the pinky finger", "absent end part of the outermost bone of the pinky finger" ] ], "xref": [ "UMLS:C4025577" ], "is_a": [ "HP:0009198", "HP:0009382", "HP:0010246" ], "is_obsolete": "", "replace_id": "" }, "HP:0003697": { "name": [ "scapuloperoneal amyotrophy", "scapuloperoneal amyotrophy" ], "alt_id": [ "HP:0006920", "HP:0008957" ], "def": "Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.", "synonym": [ [ "scapuloperoneal atrophy", "scapuloperoneal atrophy" ] ], "xref": [ "UMLS:C1842162" ], "is_a": [ "HP:0003202" ], "is_obsolete": "", "replace_id": "" }, "HP:0003698": { "name": [ "difficulty standing", "difficulty stand" ], "alt_id": [], "def": "", "synonym": [ [ "difficulty in standing", "difficulty in stand" ], [ "standing instability", "stand instability" ] ], "xref": [ "SNOMEDCT_US:249902000", "UMLS:C0241237" ], "is_a": [ "HP:0004302" ], "is_obsolete": "", "replace_id": "" }, "HP:0003700": { "name": [ "generalized amyotrophy", "generalize amyotrophy" ], "alt_id": [ "HP:0008977", "HP:0008987", "HP:0008996", "HP:0009043", "HP:0009052", "HP:0009068", "HP:0009074" ], "def": "Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.", "synonym": [ [ "diffuse amyotrophy", "diffuse amyotrophy" ], [ "diffuse muscle atrophy", "diffuse muscle atrophy" ], [ "diffuse muscle wasting", "diffuse muscle waste" ], [ "diffuse skeletal muscle wasting", "diffuse skeletal muscle waste" ], [ "generalised amyotrophy", "generalise amyotrophy" ], [ "generalised muscle atrophy", "generalised muscle atrophy" ], [ "generalised muscle degeneration", "generalised muscle degeneration" ], [ "generalized muscle atrophy", "generalize muscle atrophy" ], [ "generalized muscle degeneration", "generalize muscle degeneration" ], [ "muscle atrophy , diffuse", "muscle atrophy , diffuse" ], [ "muscle atrophy , generalised", "muscle atrophy , generalise" ], [ "muscle atrophy , generalized", "muscle atrophy , generalize" ], [ "muscular atrophy , generalised", "muscular atrophy , generalise" ], [ "muscular atrophy , generalized", "muscular atrophy , generalize" ] ], "xref": [ "UMLS:C1389113" ], "is_a": [ "HP:0003202" ], "is_obsolete": "", "replace_id": "" }, "HP:0003701": { "name": [ "proximal muscle weakness", "proximal muscle weakness" ], "alt_id": [ "HP:0003432", "HP:0003475", "HP:0007195", "HP:0008950", "HP:0008961", "HP:0008975", "HP:0009033", "HP:0009075" ], "def": "A lack of strength of the proximal muscles.", "synonym": [ [ "muscle weakness , proximal", "muscle weakness , proximal" ], [ "proximal limb muscle weakness", "proximal limb muscle weakness" ], [ "proximal limb weakness", "proximal limb weakness" ], [ "proximal neurogenic muscle weakness", "proximal neurogenic muscle weakness" ], [ "weakness in muscles of upper arms and upper legs", "weakness in muscle of upper arm and upper leg" ] ], "xref": [ "SNOMEDCT_US:249939004", "UMLS:C0221629", "UMLS:C1838869" ], "is_a": [ "HP:0001324" ], "is_obsolete": "", "replace_id": "" }, "HP:0003704": { "name": [ "scapuloperoneal weakness", "scapuloperoneal weakness" ], "alt_id": [], "def": "", "synonym": [ [ "neurogenic scapuloperoneal syndrome", "neurogenic scapuloperoneal syndrome" ] ], "xref": [ "UMLS:C1842161" ], "is_a": [ "HP:0001324" ], "is_obsolete": "", "replace_id": "" }, "HP:0003707": { "name": [ "calf muscle pseudohypertrophy", "calf muscle pseudohypertrophy" ], "alt_id": [], "def": "Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.", "synonym": [ [ "pseudohypertrophy of the calves", "pseudohypertrophy of the calf" ] ], "xref": [ "UMLS:C1839666" ], "is_a": [ "HP:0001430" ], "is_obsolete": "", "replace_id": "" }, "HP:0003710": { "name": [ "exercise - induced muscle cramps", "exercise - induced muscle cramp" ], "alt_id": [ "HP:0008983", "HP:0009000" ], "def": "Sudden and involuntary contractions of one or more muscles brought on by physical exertion.", "synonym": [ [ "exercise - induced muscle cramping", "exercise - induced muscle cramp" ], [ "exercise - induced muscle cramps", "exercise - induced muscle cramp" ], [ "muscle cramps following exercise", "muscle cramp follow exercise" ], [ "muscle cramps on exercise", "muscle cramp on exercise" ], [ "muscle cramps on exertion", "muscle cramp on exertion" ], [ "muscle cramps with exertion", "muscle cramp with exertion" ] ], "xref": [ "UMLS:C1855578" ], "is_a": [ "HP:0003394" ], "is_obsolete": "", "replace_id": "" }, "HP:0003712": { "name": [ "skeletal muscle hypertrophy", "skeletal muscle hypertrophy" ], "alt_id": [], "def": "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells).", "synonym": [ [ "hypertrophic muscles", "hypertrophic muscle" ], [ "increased skeletal muscle cells", "increase skeletal muscle cell" ], [ "muscle hypertrophy", "muscle hypertrophy" ], [ "muscular hypertrophy", "muscular hypertrophy" ] ], "xref": [ "UMLS:C2265792" ], "is_a": [ "HP:0030236" ], "is_obsolete": "", "replace_id": "" }, "HP:0003713": { "name": [ "muscle fiber necrosis", "muscle fiber necrosis" ], "alt_id": [ "HP:0003726" ], "def": "Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.", "synonym": [ [ "muscle fibre necrosis", "muscle fibre necrosis" ] ], "xref": [ "UMLS:C1850848" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0003715": { "name": [ "myofibrillar myopathy", "myofibrillar myopathy" ], "alt_id": [], "def": "Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.", "synonym": [ [ "myofibrillar changes", "myofibrillar change" ] ], "xref": [ "MSH:C580316", "SNOMEDCT_US:699269005", "UMLS:C2678065" ], "is_a": [ "HP:0003198" ], "is_obsolete": "", "replace_id": "" }, "HP:0003716": { "name": [ "generalized muscular appearance from birth", "generalize muscular appearance from birth" ], "alt_id": [], "def": "", "synonym": [ [ "generalised muscular appearance from birth", "generalise muscular appearance from birth" ] ], "xref": [ "UMLS:C1837799" ], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0003717": { "name": [ "minimal subcutaneous fat", "minimal subcutaneous fat" ], "alt_id": [], "def": "", "synonym": [ [ "minimal fat below the skin", "minimal fat below the skin" ] ], "xref": [ "UMLS:C1859442" ], "is_a": [ "HP:0003758" ], "is_obsolete": "", "replace_id": "" }, "HP:0003719": { "name": [ "muscle mounding", "muscle mounding" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1853702" ], "is_a": [ "HP:0010548" ], "is_obsolete": "", "replace_id": "" }, "HP:0003720": { "name": [ "generalized muscle hypertrophy", "generalize muscle hypertrophy" ], "alt_id": [], "def": "Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution.", "synonym": [ [ "generalised increase in muscle cell size", "generalised increase in muscle cell size" ], [ "generalised muscle hypertrophy", "generalised muscle hypertrophy" ], [ "generalized increase in muscle cell size", "generalized increase in muscle cell size" ] ], "xref": [ "UMLS:C3805639" ], "is_a": [ "HP:0003712" ], "is_obsolete": "", "replace_id": "" }, "HP:0003722": { "name": [ "neck flexor weakness", "neck flexor weakness" ], "alt_id": [ "HP:0000469" ], "def": "Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).", "synonym": [ [ "neck flexion weakness", "neck flexion weakness" ], [ "neck flexor muscle weakness", "neck flexor muscle weakness" ] ], "xref": [ "UMLS:C1843637" ], "is_a": [ "HP:0000467" ], "is_obsolete": "", "replace_id": "" }, "HP:0003724": { "name": [ "shoulder girdle muscle atrophy", "shoulder girdle muscle atrophy" ], "alt_id": [], "def": "Amyotrophy affecting the muscles of the shoulder girdle.", "synonym": [ [ "shoulder girdle atrophy", "shoulder girdle atrophy" ], [ "shoulder girdle muscle wasting", "shoulder girdle muscle waste" ], [ "shoulder - girdle muscle atrophy", "shoulder - girdle muscle atrophy" ] ], "xref": [ "UMLS:C1847766" ], "is_a": [ "HP:0003797" ], "is_obsolete": "", "replace_id": "" }, "HP:0003725": { "name": [ "firm muscles", "firm muscle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850656" ], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0003729": { "name": [ "enteroviral dermatomyositis syndrome", "enteroviral dermatomyositis syndrome" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3806660" ], "is_a": [ "HP:0002743" ], "is_obsolete": "", "replace_id": "" }, "HP:0003730": { "name": [ "emg : myotonic runs", "emg : myotonic run" ], "alt_id": [], "def": "Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).", "synonym": [ [ "emg : spontaneous , repetitive electrical activity", "emg : spontaneous , repetitive electrical activity" ] ], "xref": [ "UMLS:C4020837", "UMLS:C4025576" ], "is_a": [ "HP:0002486", "HP:0003457" ], "is_obsolete": "", "replace_id": "" }, "HP:0003731": { "name": [ "quadriceps muscle weakness", "quadriceps muscle weakness" ], "alt_id": [], "def": "Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).", "synonym": [ [ "quadriceps weakness", "quadriceps weakness" ] ], "xref": [ "SNOMEDCT_US:300948004", "UMLS:C0577655" ], "is_a": [ "HP:0008994" ], "is_obsolete": "", "replace_id": "" }, "HP:0003733": { "name": [ "thigh hypertrophy", "thigh hypertrophy" ], "alt_id": [], "def": "Muscle hypertrophy affecting the thighs.", "synonym": [ [ "increased thigh size", "increase thigh size" ] ], "xref": [ "UMLS:C1846674" ], "is_a": [ "HP:0008968" ], "is_obsolete": "", "replace_id": "" }, "HP:0003736": { "name": [ "autophagic vacuoles", "autophagic vacuole" ], "alt_id": [], "def": "The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.", "synonym": [], "xref": [ "UMLS:C0544966" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0003737": { "name": [ "mitochondrial myopathy", "mitochondrial myopathy" ], "alt_id": [ "HP:0008960" ], "def": "A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.", "synonym": [], "xref": [ "MSH:D017240", "SNOMEDCT_US:16851005", "UMLS:C0162670" ], "is_a": [ "HP:0003800" ], "is_obsolete": "", "replace_id": "" }, "HP:0003738": { "name": [ "exercise - induced myalgia", "exercise - induced myalgia" ], "alt_id": [], "def": "The occurrence of an unusually high amount of muscle pain following exercise.", "synonym": [ [ "exercise - induced muscle pain", "exercise - induced muscle pain" ], [ "muscle pain on exercise", "muscle pain on exercise" ], [ "muscle pain with exercise", "muscle pain with exercise" ], [ "muscle pain , exercise - induced", "muscle pain , exercise - induced" ] ], "xref": [ "UMLS:C1850830" ], "is_a": [ "HP:0003326" ], "is_obsolete": "", "replace_id": "" }, "HP:0003739": { "name": [ "myoclonic spasms", "myoclonic spasm" ], "alt_id": [ "HP:0006963" ], "def": "", "synonym": [], "xref": [ "UMLS:C3806442" ], "is_a": [ "HP:0001336" ], "is_obsolete": "", "replace_id": "" }, "HP:0003740": { "name": [ "myotonia with warm - up phenomenon", "myotonia with warm - up phenomenon" ], "alt_id": [], "def": "Myotonia that occurs after a period of rest and decreases with continuing exercise.", "synonym": [], "xref": [ "UMLS:C4025575" ], "is_a": [ "HP:0002486" ], "is_obsolete": "", "replace_id": "" }, "HP:0003741": { "name": [ "congenital muscular dystrophy", "congenital muscular dystrophy" ], "alt_id": [ "HP:0003793" ], "def": "", "synonym": [ [ "muscular dystrophy , congenital", "muscular dystrophy , congenital" ] ], "xref": [ "SNOMEDCT_US:240059009", "UMLS:C0699743" ], "is_a": [ "HP:0003560" ], "is_obsolete": "", "replace_id": "" }, "HP:0003743": { "name": [ "genetic anticipation", "genetic anticipation" ], "alt_id": [], "def": "A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next.", "synonym": [], "xref": [ "MSH:D020132", "UMLS:C0600498" ], "is_a": [ "HP:0000005" ], "is_obsolete": "", "replace_id": "" }, "HP:0003744": { "name": [ "genetic anticipation with paternal anticipation bias", "genetic anticipation with paternal anticipation bias" ], "alt_id": [], "def": "A type of genetic anticipation observed predominantly upon transmission from affected males.", "synonym": [ [ "paternal anticipation bias", "paternal anticipation bias" ] ], "xref": [ "UMLS:C1834002", "UMLS:C4025574" ], "is_a": [ "HP:0003743" ], "is_obsolete": "", "replace_id": "" }, "HP:0003745": { "name": [ "sporadic", "sporadic" ], "alt_id": [ "HP:0001420", "HP:0003747", "HP:0003769" ], "def": "Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.", "synonym": [ [ "isolated cases", "isolated case" ], [ "no previous family history", "no previous family history" ] ], "xref": [ "UMLS:C1853237" ], "is_a": [ "HP:0000005" ], "is_obsolete": "", "replace_id": "" }, "HP:0003749": { "name": [ "pelvic girdle muscle weakness", "pelvic girdle muscle weakness" ], "alt_id": [ "HP:0003692", "HP:0008999", "HP:0009036" ], "def": "Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.", "synonym": [ [ "hip girdle muscle weakness", "hip girdle muscle weakness" ], [ "hip girdle weakness", "hip girdle weakness" ], [ "hip - girdle muscle weakness", "hip - girdle muscle weakness" ], [ "pelvic girdle weakness", "pelvic girdle weakness" ] ], "xref": [ "SNOMEDCT_US:249941003", "UMLS:C0427064" ], "is_a": [ "HP:0003325" ], "is_obsolete": "", "replace_id": "" }, "HP:0003750": { "name": [ "increased muscle fatiguability", "increase muscle fatiguability" ], "alt_id": [], "def": "An abnormal, increased fatiguability of the musculature.", "synonym": [ [ "muscle fatigue", "muscle fatigue" ] ], "xref": [ "MSH:D018763", "SNOMEDCT_US:80449002", "UMLS:C0242979", "UMLS:C4025573" ], "is_a": [ "HP:0011804" ], "is_obsolete": "", "replace_id": "" }, "HP:0003752": { "name": [ "episodic flaccid weakness", "episodic flaccid weakness" ], "alt_id": [], "def": "Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.", "synonym": [], "xref": [ "UMLS:C4025572" ], "is_a": [ "HP:0010547" ], "is_obsolete": "", "replace_id": "" }, "HP:0003755": { "name": [ "type 1 fibers relatively smaller than type 2 fibers", "type 1 fiber relatively small than type 2 fiber" ], "alt_id": [], "def": "The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.", "synonym": [ [ "type 1 fibres relatively smaller than type 2 fibres", "type 1 fibre relatively small than type 2 fibre" ] ], "xref": [ "UMLS:C4025571" ], "is_a": [ "HP:0012084" ], "is_obsolete": "", "replace_id": "" }, "HP:0003756": { "name": [ "skeletal myopathy", "skeletal myopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:75047002", "UMLS:C1533847" ], "is_a": [ "HP:0003198" ], "is_obsolete": "", "replace_id": "" }, "HP:0003758": { "name": [ "reduced subcutaneous adipose tissue", "reduce subcutaneous adipose tissue" ], "alt_id": [ "HP:0001002", "HP:0007409" ], "def": "A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.", "synonym": [ [ "decreased subcutaneous adipose tissue", "decrease subcutaneous adipose tissue" ], [ "decreased subcutaneous fat", "decrease subcutaneous fat" ], [ "reduced fat tissue below the skin", "reduce fat tissue below the skin" ], [ "reduced subcutaneous fat", "reduce subcutaneous fat" ], [ "scanty adipose tissue", "scanty adipose tissue" ] ], "xref": [ "SNOMEDCT_US:248316006", "UMLS:C0424631", "UMLS:C1857657" ], "is_a": [ "HP:0001001", "HP:0040063" ], "is_obsolete": "", "replace_id": "" }, "HP:0003759": { "name": [ "hypoplasia of lymphatic vessels", "hypoplasia of lymphatic vessel" ], "alt_id": [], "def": "Congenital underdevelopment of lymph vessels.", "synonym": [ [ "underdeveloped lymphatic vessels", "underdeveloped lymphatic vessel" ] ], "xref": [ "UMLS:C4025570" ], "is_a": [ "HP:0100766" ], "is_obsolete": "", "replace_id": "" }, "HP:0003760": { "name": [ "percussion - induced rapid rolling muscle contractions", "percussion - induced rapid roll muscle contraction" ], "alt_id": [], "def": "Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.", "synonym": [], "xref": [ "UMLS:C4280804" ], "is_a": [ "HP:0010548" ], "is_obsolete": "", "replace_id": "" }, "HP:0003761": { "name": [ "calcinosis", "calcinosis" ], "alt_id": [], "def": "Formation of calcium deposits in any soft tissue.", "synonym": [ [ "calcium buildup in soft tissues of body", "calcium buildup in soft tissue of body" ] ], "xref": [ "MSH:D002114", "SNOMEDCT_US:6595006", "UMLS:C0006663" ], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0003762": { "name": [ "uterus didelphys", "uterus didelphys" ], "alt_id": [], "def": "A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.", "synonym": [ [ "double uterus", "double uterus" ] ], "xref": [ "SNOMEDCT_US:15545001", "SNOMEDCT_US:22504001", "UMLS:C0152240", "UMLS:C0266393" ], "is_a": [ "HP:0031105" ], "is_obsolete": "", "replace_id": "" }, "HP:0003763": { "name": [ "bruxism", "bruxism" ], "alt_id": [], "def": "Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep.", "synonym": [ [ "teeth grinding", "teeth grind" ] ], "xref": [ "MSH:D002012", "SNOMEDCT_US:191983006", "SNOMEDCT_US:90207007", "UMLS:C0006325" ], "is_a": [ "HP:0002360" ], "is_obsolete": "", "replace_id": "" }, "HP:0003764": { "name": [ "nevus", "nevus" ], "alt_id": [], "def": "A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.", "synonym": [ [ "mole", "mole" ], [ "naevi", "naevi" ], [ "naevus", "naevus" ], [ "nevi", "nevus" ] ], "xref": [ "MSH:D009506", "MSH:D009508", "SNOMEDCT_US:21119008", "SNOMEDCT_US:400096001", "SNOMEDCT_US:51697005", "UMLS:C0027960", "UMLS:C0027962" ], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0003765": { "name": [ "psoriasiform dermatitis", "psoriasiform dermatitis" ], "alt_id": [], "def": "A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).", "synonym": [ [ "psoriasis", "psoriasis" ] ], "xref": [ "MSH:D011565", "SNOMEDCT_US:9014002", "UMLS:C0033860" ], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0003768": { "name": [ "periodic paralysis", "periodic paralysis" ], "alt_id": [], "def": "Episodes of muscle weakness.", "synonym": [ [ "episodic paralysis", "episodic paralysis" ] ], "xref": [ "SNOMEDCT_US:198030008", "UMLS:C1279412" ], "is_a": [ "HP:0003470" ], "is_obsolete": "", "replace_id": "" }, "HP:0003771": { "name": [ "pulp calcification", "pulp calcification" ], "alt_id": [], "def": "Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.", "synonym": [ [ "false denticles", "false denticle" ], [ "false pulp stones", "false pulp stone" ], [ "pulp calcifications", "pulp calcification" ], [ "pulp denticles", "pulp denticle" ], [ "pulp stones", "pulp stone" ], [ "pulpoliths", "pulpoliths" ], [ "true denticles", "true denticle" ], [ "true pulp stones", "true pulp stone" ] ], "xref": [ "MSH:D003784", "SNOMEDCT_US:57602001", "UMLS:C1527284", "UMLS:C4280259", "UMLS:C4280546" ], "is_a": [ "HP:0006479" ], "is_obsolete": "", "replace_id": "" }, "HP:0003774": { "name": [ "stage 5 chronic kidney disease", "stage 5 chronic kidney disease" ], "alt_id": [ "HP:0000101", "HP:0004720", "HP:0004725", "HP:0004733", "HP:0004738", "HP:0005570" ], "def": "A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.", "synonym": [ [ "chronic renal failure", "chronic renal failure" ], [ "end stage renal disease", "end stage renal disease" ], [ "end stage renal failure", "end stage renal failure" ], [ "end - stage renal disease", "end - stage renal disease" ], [ "end - stage renal failure", "end - stage renal failure" ], [ "renal failure , endstage", "renal failure , endstage" ], [ "stage 5 chronic kidney disease", "stage 5 chronic kidney disease" ] ], "xref": [ "SNOMEDCT_US:433146000", "UMLS:C2316810" ], "is_a": [ "HP:0012622" ], "is_obsolete": "", "replace_id": "" }, "HP:0003777": { "name": [ "pili torti", "pili torti" ], "alt_id": [], "def": "Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.", "synonym": [ [ "flattened and twisted hair", "flatten and twist hair" ] ], "xref": [ "MSH:C562485", "SNOMEDCT_US:17170005", "UMLS:C0263491" ], "is_a": [ "HP:0003328" ], "is_obsolete": "", "replace_id": "" }, "HP:0003778": { "name": [ "short mandibular rami", "short mandibular ramus" ], "alt_id": [ "HP:0005447" ], "def": "", "synonym": [ [ "decreased height of mandibular ramus", "decreased height of mandibular ramus" ], [ "decreased size of mandibular ramus", "decreased size of mandibular ramus" ], [ "short body and ramus of mandible", "short body and ramus of mandible" ], [ "short mandibular ramus", "short mandibular ramus" ], [ "underdeveloped mandibular rami", "underdeveloped mandibular ramus" ] ], "xref": [ "UMLS:C1841648", "UMLS:C4280545" ], "is_a": [ "HP:0000347", "HP:3000003" ], "is_obsolete": "", "replace_id": "" }, "HP:0003779": { "name": [ "antegonial notching of mandible", "antegonial notching of mandible" ], "alt_id": [], "def": "", "synonym": [ [ "deep antegonial notch of mandible", "deep antegonial notch of mandible" ], [ "large antegonial notch of mandible", "large antegonial notch of mandible" ] ], "xref": [ "UMLS:C1844509" ], "is_a": [ "HP:0010753" ], "is_obsolete": "", "replace_id": "" }, "HP:0003781": { "name": [ "excessive salivation", "excessive salivation" ], "alt_id": [], "def": "Excessive production of saliva.", "synonym": [ [ "excessive production of saliva", "excessive production of saliva" ], [ "excessive salivation", "excessive salivation" ], [ "hypersalivation", "hypersalivation" ], [ "mouth watering", "mouth watering" ], [ "oversalivation", "oversalivation" ], [ "ptyalism", "ptyalism" ], [ "watery mouth", "watery mouth" ] ], "xref": [ "MSH:D012798", "SNOMEDCT_US:275295002", "SNOMEDCT_US:53827007", "SNOMEDCT_US:62718007", "UMLS:C0013132", "UMLS:C0037036" ], "is_a": [ "HP:0100755" ], "is_obsolete": "", "replace_id": "" }, "HP:0003782": { "name": [ "eunuchoid habitus", "eunuchoid habitus" ], "alt_id": [], "def": "A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).", "synonym": [], "xref": [ "UMLS:C4025569" ], "is_a": [ "HP:0004325" ], "is_obsolete": "", "replace_id": "" }, "HP:0003783": { "name": [ "externally rotated / abducted legs", "externally rotate / abduct leg" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1970461" ], "is_a": [ "HP:0002814" ], "is_obsolete": "", "replace_id": "" }, "HP:0003784": { "name": [ "type 1 collagen overmodification", "type 1 collagen overmodification" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1970463" ], "is_a": [ "HP:0011862" ], "is_obsolete": "", "replace_id": "" }, "HP:0003785": { "name": [ "decreased csf homovanillic acid", "decrease csf homovanillic acid" ], "alt_id": [], "def": "Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.", "synonym": [], "xref": [ "UMLS:C4280803" ], "is_a": [ "HP:0025454" ], "is_obsolete": "", "replace_id": "" }, "HP:0003787": { "name": [ "type 1 and type 2 muscle fiber minicore regions", "type 1 and type 2 muscle fiber minicore region" ], "alt_id": [], "def": "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.", "synonym": [ [ "type 1 and type 2 muscle fibre minicore regions", "type 1 and type 2 muscle fibre minicore region" ] ], "xref": [ "UMLS:C4025568" ], "is_a": [ "HP:0003789" ], "is_obsolete": "", "replace_id": "" }, "HP:0003789": { "name": [ "minicore myopathy", "minicore myopathy" ], "alt_id": [ "HP:0003804" ], "def": "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers.", "synonym": [], "xref": [ "MSH:C564969", "UMLS:C1850674" ], "is_a": [ "HP:0003198" ], "is_obsolete": "", "replace_id": "" }, "HP:0003791": { "name": [ "deposits immunoreactive to beta - amyloid protein", "deposit immunoreactive to beta - amyloid protein" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1853934" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0003795": { "name": [ "short middle phalanx of toe", "short middle phalanx of toe" ], "alt_id": [], "def": "Developmental hypoplasia (shortening) of middle phalanx of toe.", "synonym": [ [ "short middle bones ( feet )", "short middle bone ( foot )" ], [ "short middle phalanges of toes", "short middle phalanx of toe" ] ], "xref": [ "UMLS:C4021723" ], "is_a": [ "HP:0001831", "HP:0010183" ], "is_obsolete": "", "replace_id": "" }, "HP:0003796": { "name": [ "irregular iliac crest", "irregular iliac crest" ], "alt_id": [], "def": "Irregularity of the iliac crest, which is the superior border of the wing of the ilium.", "synonym": [], "xref": [ "UMLS:C1855180" ], "is_a": [ "HP:0002867" ], "is_obsolete": "", "replace_id": "" }, "HP:0003797": { "name": [ "limb - girdle muscle atrophy", "limb - girdle muscle atrophy" ], "alt_id": [], "def": "Muscular atrophy affecting the muscles of the limb girdle.", "synonym": [ [ "limb - girdle myopathy", "limb - girdle myopathy" ], [ "wasting of limb - girdle muscle", "wasting of limb - girdle muscle" ] ], "xref": [ "UMLS:C1404521", "UMLS:C1842552" ], "is_a": [ "HP:0003202", "HP:0009127" ], "is_obsolete": "", "replace_id": "" }, "HP:0003798": { "name": [ "nemaline bodies", "nemaline body" ], "alt_id": [], "def": "Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.", "synonym": [ [ "nemaline rods", "nemaline rod" ] ], "xref": [ "UMLS:C3808039" ], "is_a": [ "HP:0100303" ], "is_obsolete": "", "replace_id": "" }, "HP:0003799": { "name": [ "marked delay in bone age", "mark delay in bone age" ], "alt_id": [ "HP:0005742", "HP:0005843" ], "def": "", "synonym": [ [ "marked delay in bone age", "mark delay in bone age" ], [ "marked retardation in skeletal maturation", "mark retardation in skeletal maturation" ], [ "markedly retarded bone age", "markedly retard bone age" ] ], "xref": [ "UMLS:C1868549" ], "is_a": [ "HP:0002750" ], "is_obsolete": "", "replace_id": "" }, "HP:0003800": { "name": [ "muscle abnormality related to mitochondrial dysfunction", "muscle abnormality relate to mitochondrial dysfunction" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025566" ], "is_a": [ "HP:0011804" ], "is_obsolete": "", "replace_id": "" }, "HP:0003803": { "name": [ "type 1 muscle fiber predominance", "type 1 muscle fiber predominance" ], "alt_id": [ "HP:0003721", "HP:0003807" ], "def": "An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).", "synonym": [ [ "type 1 muscle fibre predominance", "type 1 muscle fibre predominance" ], [ "type i muscle fiber predominance", "type i muscle fiber predominance" ], [ "type i muscle fibre predominance", "type i muscle fibre predominance" ] ], "xref": [ "UMLS:C1854387" ], "is_a": [ "HP:0033684" ], "is_obsolete": "", "replace_id": "" }, "HP:0003805": { "name": [ "rimmed vacuoles", "rim vacuole" ], "alt_id": [ "HP:0009029" ], "def": "Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.", "synonym": [ [ "'rimmed vacuoles ' on biopsy", "'rimmed vacuole ' on biopsy" ], [ "'rimmed ' vacuoles on biopsy", "'rimmed ' vacuole on biopsy" ] ], "xref": [ "UMLS:C1853932" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0003808": { "name": [ "abnormal muscle tone", "abnormal muscle tone" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal muscle tone", "abnormal muscle tone" ] ], "xref": [ "UMLS:C0852413" ], "is_a": [ "HP:0011804" ], "is_obsolete": "", "replace_id": "" }, "HP:0003809": { "name": [ "reduced intrathoracic adipose tissue", "reduce intrathoracic adipose tissue" ], "alt_id": [], "def": "An abnormally reduced amount of adipose tissue in the thoracic cavity.", "synonym": [], "xref": [ "UMLS:C1837797" ], "is_a": [ "HP:0040063" ], "is_obsolete": "", "replace_id": "" }, "HP:0003810": { "name": [ "late - onset distal muscle weakness", "late - onset distal muscle weakness" ], "alt_id": [ "HP:0003728" ], "def": "", "synonym": [], "xref": [ "UMLS:C4025565" ], "is_a": [ "HP:0002460" ], "is_obsolete": "", "replace_id": "" }, "HP:0003811": { "name": [ "neonatal death", "neonatal death" ], "alt_id": [ "HP:0003820", "HP:0003824" ], "def": "Death within the first 28 days of life.", "synonym": [ [ "neonatal lethal", "neonatal lethal" ] ], "xref": [ "MSH:D066087", "SNOMEDCT_US:276506001", "UMLS:C0410916" ], "is_a": [ "HP:0011420" ], "is_obsolete": "", "replace_id": "" }, "HP:0003812": { "name": [ "phenotypic variability", "phenotypic variability" ], "alt_id": [ "HP:0003813", "HP:0003815", "HP:0003821", "HP:0003822" ], "def": "A variability of phenotypic features.", "synonym": [ [ "clinical heterogeneity", "clinical heterogeneity" ], [ "highly variable clinical phenotype", "highly variable clinical phenotype" ], [ "highly variable phenotype", "highly variable phenotype" ], [ "highly variable phenotype and severity", "highly variable phenotype and severity" ], [ "highly variable phenotype , even within families", "highly variable phenotype , even within family" ], [ "variable phenotype", "variable phenotype" ], [ "variable phenotypic severity", "variable phenotypic severity" ] ], "xref": [ "UMLS:C1837514", "UMLS:C1839039", "UMLS:C1850667", "UMLS:C1866210" ], "is_a": [ "HP:0012823" ], "is_obsolete": "", "replace_id": "" }, "HP:0003819": { "name": [ "death in childhood", "death in childhood" ], "alt_id": [ "HP:0001432", "HP:0004149" ], "def": "Death in during childhood, defined here as between the ages of 2 and 10 years.", "synonym": [ [ "death in childhood", "death in childhood" ] ], "xref": [ "UMLS:C1843392" ], "is_a": [ "HP:0011420" ], "is_obsolete": "", "replace_id": "" }, "HP:0003826": { "name": [ "stillbirth", "stillbirth" ], "alt_id": [ "HP:0001624", "HP:0001625" ], "def": "Death of the fetus in utero after at least 20 weeks of gestation.", "synonym": [ [ "fetal death", "fetal death" ], [ "foetal death", "foetal death" ], [ "stillbirth", "stillbirth" ], [ "stillborn", "stillborn" ] ], "xref": [ "MSH:D005313", "MSH:D050497", "SNOMEDCT_US:237364002", "SNOMEDCT_US:276507005", "UMLS:C0015927", "UMLS:C0595939" ], "is_a": [ "HP:0011420" ], "is_obsolete": "", "replace_id": "" }, "HP:0003828": { "name": [ "variable expressivity", "variable expressivity" ], "alt_id": [ "HP:0003814", "HP:0003825" ], "def": "A variable severity of phenotypic features.", "synonym": [ [ "highly variable severity", "highly variable severity" ], [ "variable severity", "variable severity" ] ], "xref": [ "UMLS:C1861403", "UMLS:C1866862" ], "is_a": [ "HP:0003812" ], "is_obsolete": "", "replace_id": "" }, "HP:0003829": { "name": [ "incomplete penetrance", "incomplete penetrance" ], "alt_id": [ "HP:0003830" ], "def": "A situation in which mutation carriers do not show clinically evident phenotypic abnormalities.", "synonym": [ [ "reduced penetrance", "reduce penetrance" ] ], "xref": [ "UMLS:C1836598" ], "is_a": [ "HP:0003812" ], "is_obsolete": "", "replace_id": "" }, "HP:0003831": { "name": [ "age - dependent penetrance", "age - dependent penetrance" ], "alt_id": [], "def": "A situation in which phenotypic abnormalities become evident with age.", "synonym": [ [ "age dependent penetrance", "age dependent penetrance" ] ], "xref": [ "UMLS:C1835978" ], "is_a": [ "HP:0003829" ], "is_obsolete": "", "replace_id": "" }, "HP:0003832": { "name": [ "abnormality of the tibial plateaux", "abnormality of the tibial plateau" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025564" ], "is_a": [ "HP:0002992" ], "is_obsolete": "", "replace_id": "" }, "HP:0003833": { "name": [ "laterally deficient tibial plateaux", "laterally deficient tibial plateau" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025563" ], "is_a": [ "HP:0003832" ], "is_obsolete": "", "replace_id": "" }, "HP:0003834": { "name": [ "shoulder dislocation", "shoulder dislocation" ], "alt_id": [], "def": "A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.", "synonym": [ [ "shoulder dislocation", "shoulder dislocation" ] ], "xref": [ "MSH:D012783", "SNOMEDCT_US:125615005", "SNOMEDCT_US:417076003", "UMLS:C0037005" ], "is_a": [ "HP:0003043", "HP:0030310" ], "is_obsolete": "", "replace_id": "" }, "HP:0003835": { "name": [ "shoulder subluxation", "shoulder subluxation" ], "alt_id": [], "def": "A partial dislocation of the shoulder joint.", "synonym": [ [ "partial shoulder dislocation", "partial shoulder dislocation" ] ], "xref": [ "SNOMEDCT_US:263051004", "UMLS:C0434744" ], "is_a": [ "HP:0032153" ], "is_obsolete": "", "replace_id": "" }, "HP:0003836": { "name": [ "stippled calcification of the shoulder", "stipple calcification of the shoulder" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025562" ], "is_a": [ "HP:0003043" ], "is_obsolete": "", "replace_id": "" }, "HP:0003837": { "name": [ "soft - tissue ossification around the shoulders", "soft - tissue ossification around the shoulder" ], "alt_id": [], "def": "Formation of calcified tissue in the soft tissues surrounding the shoulder.", "synonym": [ [ "calcification of the soft - tissue around the shoulders", "calcification of the soft - tissue around the shoulder" ] ], "xref": [ "UMLS:C4025561" ], "is_a": [ "HP:0011986" ], "is_obsolete": "", "replace_id": "" }, "HP:0003839": { "name": [ "abnormality of upper limb epiphysis morphology", "abnormality of upper limb epiphysis morphology" ], "alt_id": [ "HP:0003845" ], "def": "", "synonym": [ [ "abnormal shape of end part of upper limb long bones", "abnormal shape of end part of upper limb long bone" ], [ "abnormality involving the epiphyses of the upper limbs", "abnormality involve the epiphysis of the upper limb" ], [ "epihyseal plate abnormality of the upper limbs", "epihyseal plate abnormality of the upper limb" ] ], "xref": [ "UMLS:C4021722" ], "is_a": [ "HP:0002817", "HP:0006505" ], "is_obsolete": "", "replace_id": "" }, "HP:0003840": { "name": [ "delayed upper limb epiphyseal ossification", "delay upper limb epiphyseal ossification" ], "alt_id": [], "def": "A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs.", "synonym": [ [ "delayed maturation fo the end part of the upper limb bone", "delay maturation fo the end part of the upper limb bone" ] ], "xref": [ "UMLS:C4025560", "UMLS:C4280544" ], "is_a": [ "HP:0002663", "HP:0003839" ], "is_obsolete": "", "replace_id": "" }, "HP:0003841": { "name": [ "fragmented epiphyses of the upper limbs", "fragmented epiphysis of the upper limb" ], "alt_id": [], "def": "", "synonym": [ [ "fragmented end part of upper limb bones", "fragmented end part of upper limb bone" ] ], "xref": [ "UMLS:C4025559" ], "is_a": [ "HP:0003839", "HP:0100168" ], "is_obsolete": "", "replace_id": "" }, "HP:0003842": { "name": [ "irregular epiphyses of the upper limbs", "irregular epiphysis of the upper limb" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of upper limb bones", "irregular end part of upper limb bone" ] ], "xref": [ "UMLS:C4025558" ], "is_a": [ "HP:0003839", "HP:0010582" ], "is_obsolete": "", "replace_id": "" }, "HP:0003843": { "name": [ "round epiphyses of the upper limbs", "round epiphysis of the upper limb" ], "alt_id": [], "def": "", "synonym": [ [ "round end part of upper limb bones", "round end part of upper limb bone" ] ], "xref": [ "UMLS:C4025557" ], "is_a": [ "HP:0003839" ], "is_obsolete": "", "replace_id": "" }, "HP:0003844": { "name": [ "small epiphyses of the upper limbs", "small epiphysis of the upper limb" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of upper limb bones", "small end part of upper limb bone" ] ], "xref": [ "UMLS:C4025556" ], "is_a": [ "HP:0003839", "HP:0010585" ], "is_obsolete": "", "replace_id": "" }, "HP:0003846": { "name": [ "wide epiphyseal plates of the upper limbs", "wide epiphyseal plate of the upper limb" ], "alt_id": [], "def": "", "synonym": [ [ "broad epiphyseal plates of the upper limbs", "broad epiphyseal plate of the upper limb" ], [ "broad growth plates of upper limbs", "broad growth plate of upper limb" ] ], "xref": [ "UMLS:C4020913" ], "is_a": [ "HP:0003839" ], "is_obsolete": "", "replace_id": "" }, "HP:0003848": { "name": [ "cupped metaphyses of the upper limbs", "cupped metaphyses of the upper limb" ], "alt_id": [], "def": "", "synonym": [ [ "cupped wide portion of the upper limb bone", "cup wide portion of the upper limb bone" ] ], "xref": [ "UMLS:C4025555" ], "is_a": [ "HP:0003021", "HP:0009809" ], "is_obsolete": "", "replace_id": "" }, "HP:0003849": { "name": [ "flared upper limb metaphysis", "flare upper limb metaphysis" ], "alt_id": [], "def": "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.", "synonym": [ [ "flared metaphyses of the upper limbs", "flared metaphyses of the upper limb" ], [ "flared wide portion of the upper limb bone", "flare wide portion of the upper limb bone" ] ], "xref": [ "UMLS:C4021721" ], "is_a": [ "HP:0003015", "HP:0003856" ], "is_obsolete": "", "replace_id": "" }, "HP:0003850": { "name": [ "upper - limb metaphyseal irregularity", "upper - limb metaphyseal irregularity" ], "alt_id": [], "def": "", "synonym": [ [ "irregular metaphyses of the upper limbs", "irregular metaphyses of the upper limb" ], [ "irregular wide portion of upper limb bones", "irregular wide portion of upper limb bone" ] ], "xref": [ "UMLS:C4021720" ], "is_a": [ "HP:0003025", "HP:0009809" ], "is_obsolete": "", "replace_id": "" }, "HP:0003851": { "name": [ "lytic defects in metaphyses of the upper limbs", "lytic defect in metaphyses of the upper limb" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025554" ], "is_a": [ "HP:0009809" ], "is_obsolete": "", "replace_id": "" }, "HP:0003852": { "name": [ "normal density transverse bands in metaphyses of the upper limbs", "normal density transverse band in metaphyses of the upper limb" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025553" ], "is_a": [ "HP:0009809" ], "is_obsolete": "", "replace_id": "" }, "HP:0003853": { "name": [ "sclerosis with transverse striations in metaphyses of the upper limbs", "sclerosis with transverse striation in metaphyses of the upper limb" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025552" ], "is_a": [ "HP:0003854" ], "is_obsolete": "", "replace_id": "" }, "HP:0003854": { "name": [ "sclerosis of metaphyses of the upper limbs", "sclerosis of metaphyses of the upper limb" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in wide portion of the upper limb bones", "increase bone density in wide portion of the upper limb bone" ] ], "xref": [ "UMLS:C4025551" ], "is_a": [ "HP:0009809" ], "is_obsolete": "", "replace_id": "" }, "HP:0003855": { "name": [ "spurred metaphyses of the upper limbs", "spurred metaphyses of the upper limb" ], "alt_id": [], "def": "", "synonym": [ [ "spurred wide portion of upper limb bone", "spur wide portion of upper limb bone" ] ], "xref": [ "UMLS:C4025550" ], "is_a": [ "HP:0005054", "HP:0009809" ], "is_obsolete": "", "replace_id": "" }, "HP:0003856": { "name": [ "upper limb metaphyseal widening", "upper limb metaphyseal widening" ], "alt_id": [], "def": "Increased width (breadth) of metaphyses of the arms.", "synonym": [ [ "broad wide portion of upper limb bone", "broad wide portion of upper limb bone" ], [ "wide / broad metaphyses of the upper limbs", "wide / broad metaphyses of the upper limb" ] ], "xref": [ "UMLS:C4021719" ], "is_a": [ "HP:0003016", "HP:0009809" ], "is_obsolete": "", "replace_id": "" }, "HP:0003858": { "name": [ "cortical diaphyseal irregularity of the upper limbs", "cortical diaphyseal irregularity of the upper limb" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025549" ], "is_a": [ "HP:0009808" ], "is_obsolete": "", "replace_id": "" }, "HP:0003859": { "name": [ "cortical diaphyseal thickening of the upper limbs", "cortical diaphyseal thickening of the upper limb" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025548" ], "is_a": [ "HP:0009808" ], "is_obsolete": "", "replace_id": "" }, "HP:0003860": { "name": [ "diaphyseal sclerosis of the upper limbs", "diaphyseal sclerosis of the upper limb" ], "alt_id": [], "def": "An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in central part of long bone of upper limbs", "increase bone density in central part of long bone of upper limb" ] ], "xref": [ "UMLS:C4025547" ], "is_a": [ "HP:0003034", "HP:0009808" ], "is_obsolete": "", "replace_id": "" }, "HP:0003861": { "name": [ "broad diaphyses of the upper limbs", "broad diaphysis of the upper limb" ], "alt_id": [], "def": "", "synonym": [ [ "broad shaft of long bone of the upper limbs", "broad shaft of long bone of the upper limb" ], [ "wide diaphyses of the upper limbs", "wide diaphysis of the upper limb" ], [ "wide shaft of long bone of the upper limbs", "wide shaft of long bone of the upper limb" ] ], "xref": [ "UMLS:C4021718" ], "is_a": [ "HP:0009808" ], "is_obsolete": "", "replace_id": "" }, "HP:0003862": { "name": [ "absent humerus", "absent humerus" ], "alt_id": [], "def": "Missing humerus bone associated with congenital failure of development.", "synonym": [ [ "absent long bone in upper arm", "absent long bone in upper arm" ], [ "aplasia of the humerus", "aplasia of the humerus" ], [ "aplastic humerus", "aplastic humerus" ] ], "xref": [ "UMLS:C2678399" ], "is_a": [ "HP:0006507" ], "is_obsolete": "", "replace_id": "" }, "HP:0003863": { "name": [ "angulated humerus", "angulate humerus" ], "alt_id": [], "def": "", "synonym": [ [ "angulated long bone in upper arm", "angulate long bone in upper arm" ] ], "xref": [ "UMLS:C4025546" ], "is_a": [ "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003864": { "name": [ "bifid humerus", "bifid humerus" ], "alt_id": [], "def": "Clefting affecting the humerus.", "synonym": [ [ "notched long bone in upper arm", "notch long bone in upper arm" ] ], "xref": [ "UMLS:C4025545" ], "is_a": [ "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003865": { "name": [ "bowed humerus", "bow humerus" ], "alt_id": [], "def": "A bending or abnormal curvature of the humerus.", "synonym": [ [ "bowed long bone in upper arm", "bow long bone in upper arm" ], [ "bowing of the humerus", "bowing of the humerus" ], [ "humeral bowing", "humeral bowing" ] ], "xref": [ "UMLS:C1859460" ], "is_a": [ "HP:0006488", "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003866": { "name": [ "coarse humeral trabeculae", "coarse humeral trabecula" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025544" ], "is_a": [ "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003867": { "name": [ "humeral cortical irregularity", "humeral cortical irregularity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025543" ], "is_a": [ "HP:0005731", "HP:0010629" ], "is_obsolete": "", "replace_id": "" }, "HP:0003868": { "name": [ "humeral cortical thickening", "humeral cortical thickening" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025542" ], "is_a": [ "HP:0000935", "HP:0010629" ], "is_obsolete": "", "replace_id": "" }, "HP:0003869": { "name": [ "humeral cortical thinning", "humeral cortical thinning" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025541" ], "is_a": [ "HP:0002753", "HP:0010629" ], "is_obsolete": "", "replace_id": "" }, "HP:0003870": { "name": [ "crumpled humerus", "crumple humerus" ], "alt_id": [ "HP:0003873" ], "def": "", "synonym": [ [ "crumpled long bone in upper arm", "crumple long bone in upper arm" ] ], "xref": [ "UMLS:C4025540" ], "is_a": [ "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003871": { "name": [ "deformed humerus", "deform humerus" ], "alt_id": [], "def": "", "synonym": [ [ "deformed long bone in upper arm", "deform long bone in upper arm" ] ], "xref": [ "UMLS:C4025539" ], "is_a": [ "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003872": { "name": [ "humeral exostoses", "humeral exostosis" ], "alt_id": [], "def": "Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.", "synonym": [], "xref": [ "UMLS:C4025538" ], "is_a": [ "HP:0002762", "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003874": { "name": [ "humerus varus", "humerus varus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025537" ], "is_a": [ "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003875": { "name": [ "humeral lytic defects", "humeral lytic defect" ], "alt_id": [], "def": "Destruction of an area of humerus bone due to a disease process, such as cancer.", "synonym": [ [ "lytic defects of the humerus", "lytic defect of the humerus" ] ], "xref": [ "UMLS:C4025536" ], "is_a": [ "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003876": { "name": [ "osteoporotic humerus", "osteoporotic humerus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025535" ], "is_a": [ "HP:0003063" ], "is_obsolete": "", "replace_id": "" }, "HP:0003877": { "name": [ "oval transradiancy of humerus", "oval transradiancy of humerus" ], "alt_id": [], "def": "", "synonym": [ [ "humeral oval transradiancy", "humeral oval transradiancy" ] ], "xref": [ "UMLS:C4025534" ], "is_a": [ "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003878": { "name": [ "periosteal new bone of humerus", "periosteal new bone of humerus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025533" ], "is_a": [ "HP:0003063", "HP:0030314" ], "is_obsolete": "", "replace_id": "" }, "HP:0003879": { "name": [ "humeral pseudarthrosis", "humeral pseudarthrosis" ], "alt_id": [], "def": "", "synonym": [ [ "false joint ( long bone in upper arm )", "false joint ( long bone in upper arm )" ] ], "xref": [ "UMLS:C4025532" ], "is_a": [ "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003880": { "name": [ "sclerotic foci of the humerus", "sclerotic focus of the humerus" ], "alt_id": [], "def": "", "synonym": [ [ "humeral sclerotic foci", "humeral sclerotic focus" ] ], "xref": [ "UMLS:C4021717" ], "is_a": [ "HP:0003881" ], "is_obsolete": "", "replace_id": "" }, "HP:0003881": { "name": [ "humeral sclerosis", "humeral sclerosis" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in long bone of upper arm", "increase bone density in long bone of upper arm" ], [ "sclerosis of humerus", "sclerosis of humerus" ] ], "xref": [ "UMLS:C4021716" ], "is_a": [ "HP:0003063", "HP:0006392" ], "is_obsolete": "", "replace_id": "" }, "HP:0003882": { "name": [ "slender humerus", "slender humerus" ], "alt_id": [], "def": "Reduction in diameter of the humerus.", "synonym": [ [ "slender long bone of upper arm", "slender long bone of upper arm" ] ], "xref": [ "UMLS:C4021851" ], "is_a": [ "HP:0003100", "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003883": { "name": [ "tapered humerus", "taper humerus" ], "alt_id": [], "def": "", "synonym": [ [ "tapered long bone of upper arm", "taper long bone of upper arm" ] ], "xref": [ "UMLS:C4025531" ], "is_a": [ "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003884": { "name": [ "triangular humerus", "triangular humerus" ], "alt_id": [], "def": "", "synonym": [ [ "triangular long bone of upper arm", "triangular long bone of upper arm" ] ], "xref": [ "UMLS:C4025530" ], "is_a": [ "HP:0003063" ], "is_obsolete": "", "replace_id": "" }, "HP:0003885": { "name": [ "undermodeled humerus", "undermodeled humerus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025529" ], "is_a": [ "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003886": { "name": [ "wide humerus", "wide humerus" ], "alt_id": [], "def": "", "synonym": [ [ "broad humerus", "broad humerus" ], [ "wide long bone of upper arm", "wide long bone of upper arm" ] ], "xref": [ "UMLS:C4021715" ], "is_a": [ "HP:0005622", "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003887": { "name": [ "abnormality of the humeral heads", "abnormality of the humeral head" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal head of long bone in upper arm", "abnormal head of long bone in upper arm" ] ], "xref": [ "UMLS:C4025528" ], "is_a": [ "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003888": { "name": [ "flattened humeral heads", "flatten humeral head" ], "alt_id": [], "def": "", "synonym": [ [ "flattended head of long bone in upper arm", "flattended head of long bone in upper arm" ] ], "xref": [ "UMLS:C3808869" ], "is_a": [ "HP:0003887" ], "is_obsolete": "", "replace_id": "" }, "HP:0003889": { "name": [ "abnormality of the deltoid tuberosities", "abnormality of the deltoid tuberosity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025527" ], "is_a": [ "HP:0003926" ], "is_obsolete": "", "replace_id": "" }, "HP:0003890": { "name": [ "prominent deltoid tuberosities", "prominent deltoid tuberosity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C2674600" ], "is_a": [ "HP:0003889" ], "is_obsolete": "", "replace_id": "" }, "HP:0003891": { "name": [ "abnormality of the humeral epiphysis", "abnormality of the humeral epiphysis" ], "alt_id": [], "def": "An anomaly of the humeral epiphysis.", "synonym": [ [ "abnormality of end part of the long bone of the upper arm", "abnormality of end part of the long bone of the upper arm" ], [ "abnormality of the humeral epiphyses", "abnormality of the humeral epiphysis" ] ], "xref": [ "UMLS:C4021714" ], "is_a": [ "HP:0003063", "HP:0003839" ], "is_obsolete": "", "replace_id": "" }, "HP:0003892": { "name": [ "absent humeral epiphyseal ossification", "absent humeral epiphyseal ossification" ], "alt_id": [], "def": "Lack of formation of bone in the epiphysis of the humerus.", "synonym": [ [ "absent maturation of end part of long bone in upper arm", "absent maturation of end part of long bone in upper arm" ], [ "absent ossification of the humeral epiphyses", "absent ossification of the humeral epiphysis" ] ], "xref": [ "UMLS:C4021713" ], "is_a": [ "HP:0003891", "HP:0012791" ], "is_obsolete": "", "replace_id": "" }, "HP:0003893": { "name": [ "advanced ossification of the humeral epiphysis", "advanced ossification of the humeral epiphysis" ], "alt_id": [], "def": "Ossification of the humeral epiphysis at an earlier age than normal.", "synonym": [ [ "accelerated maturation of end part of long bone in upper arm", "accelerate maturation of end part of long bone in upper arm" ], [ "advanced maturation of the humeral epiphyses", "advanced maturation of the humeral epiphysis" ] ], "xref": [ "UMLS:C4020836", "UMLS:C4025526" ], "is_a": [ "HP:0003891", "HP:0010656" ], "is_obsolete": "", "replace_id": "" }, "HP:0003894": { "name": [ "delayed humeral epiphyseal ossification", "delay humeral epiphyseal ossification" ], "alt_id": [], "def": "A delay in the process of formation and maturation of the humeral epiphysis.", "synonym": [ [ "delayed maturation of the end part of the long bone in upper arm", "delay maturation of the end part of the long bone in upper arm" ], [ "delayed maturation / delayed ossification of the humeral epiphyses", "delay maturation / delay ossification of the humeral epiphysis" ] ], "xref": [ "UMLS:C4021712", "UMLS:C4280543" ], "is_a": [ "HP:0003840", "HP:0003891" ], "is_obsolete": "", "replace_id": "" }, "HP:0003895": { "name": [ "flattened humeral epiphyses", "flatten humeral epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "flattened end part of long bone in upper arm", "flatten end part of long bone in upper arm" ] ], "xref": [ "UMLS:C4025525" ], "is_a": [ "HP:0003071", "HP:0003891" ], "is_obsolete": "", "replace_id": "" }, "HP:0003896": { "name": [ "irregular humeral epiphyses", "irregular humeral epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of long bone in upper arm", "irregular end part of long bone in upper arm" ] ], "xref": [ "UMLS:C4025524" ], "is_a": [ "HP:0003842", "HP:0003891" ], "is_obsolete": "", "replace_id": "" }, "HP:0003897": { "name": [ "irregular ossification of the humeral epiphyses", "irregular ossification of the humeral epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "irregular maturation of the end part of the long bone in upper arm", "irregular maturation of the end part of the long bone in upper arm" ] ], "xref": [ "UMLS:C4025523", "UMLS:C4280542" ], "is_a": [ "HP:0003891", "HP:0010656", "HP:0012791" ], "is_obsolete": "", "replace_id": "" }, "HP:0003898": { "name": [ "large humeral epiphyses", "large humeral epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "large end part of long bone in upper arm", "large end part of long bone in upper arm" ] ], "xref": [ "UMLS:C4025522" ], "is_a": [ "HP:0003891", "HP:0010580" ], "is_obsolete": "", "replace_id": "" }, "HP:0003899": { "name": [ "round humeral epiphyses", "round humeral epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "round end part of long bone in upper arm", "round end part of long bone in upper arm" ] ], "xref": [ "UMLS:C4025521" ], "is_a": [ "HP:0003843", "HP:0003891" ], "is_obsolete": "", "replace_id": "" }, "HP:0003900": { "name": [ "small humeral epiphyses", "small humeral epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of long bone in upper arm", "small end part of long bone in upper arm" ] ], "xref": [ "UMLS:C4025520" ], "is_a": [ "HP:0003844", "HP:0003891" ], "is_obsolete": "", "replace_id": "" }, "HP:0003901": { "name": [ "stippled calcification of the humeral epiphyses", "stipple calcification of the humeral epiphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025519" ], "is_a": [ "HP:0003891" ], "is_obsolete": "", "replace_id": "" }, "HP:0003902": { "name": [ "epiphyseal stippling of the humerus", "epiphyseal stippling of the humerus" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis.", "synonym": [ [ "stippled ossification of the humeral epiphyses", "stipple ossification of the humeral epiphysis" ] ], "xref": [ "UMLS:C4021711" ], "is_a": [ "HP:0003897", "HP:0010655" ], "is_obsolete": "", "replace_id": "" }, "HP:0003903": { "name": [ "broad humeral epiphyses", "broad humeral epiphysis" ], "alt_id": [], "def": "Increased width of the humeral epiphysis.", "synonym": [ [ "wide end part of long bone in upper arm", "wide end part of long bone in upper arm" ], [ "wide humeral epiphyses", "wide humeral epiphysis" ] ], "xref": [ "UMLS:C4021710" ], "is_a": [ "HP:0003891", "HP:0003904" ], "is_obsolete": "", "replace_id": "" }, "HP:0003904": { "name": [ "wide epiphyses of the upper limbs", "wide epiphysis of the upper limb" ], "alt_id": [], "def": "", "synonym": [ [ "broad epiphyses of the upper limbs", "broad epiphysis of the upper limb" ], [ "wide end part of upper limb bones", "wide end part of upper limb bone" ] ], "xref": [ "UMLS:C4021709" ], "is_a": [ "HP:0003839", "HP:0010580" ], "is_obsolete": "", "replace_id": "" }, "HP:0003905": { "name": [ "abnormality of the humeral epiphyseal plate", "abnormality of the humeral epiphyseal plate" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of arm long bone growth plate", "abnormality of arm long bone growth plate" ] ], "xref": [ "UMLS:C4025518", "UMLS:C4280541" ], "is_a": [ "HP:0003891" ], "is_obsolete": "", "replace_id": "" }, "HP:0003906": { "name": [ "broad humeral epiphyseal plate", "broad humeral epiphyseal plate" ], "alt_id": [], "def": "Increased width of the humeral epiphyseal growth plate.", "synonym": [ [ "wide humeral epiphyseal plate", "wide humeral epiphyseal plate" ], [ "wide long bone of arm growth plate", "wide long bone of arm growth plate" ] ], "xref": [ "UMLS:C4021708", "UMLS:C4280540" ], "is_a": [ "HP:0003846", "HP:0003905" ], "is_obsolete": "", "replace_id": "" }, "HP:0003907": { "name": [ "abnormality of the humeral metaphyses", "abnormality of the humeral metaphyses" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the wide portion of the long bone in upper arm", "abnormality of the wide portion of the long bone in upper arm" ] ], "xref": [ "UMLS:C4025517" ], "is_a": [ "HP:0003063", "HP:0009809" ], "is_obsolete": "", "replace_id": "" }, "HP:0003908": { "name": [ "corner fracture of metaphysis", "corner fracture of metaphysis" ], "alt_id": [], "def": "Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias.", "synonym": [ [ "bucket handle fracture", "bucket handle fracture" ], [ "metaphyseal corner fracture", "metaphyseal corner fracture" ] ], "xref": [ "UMLS:C4025516" ], "is_a": [ "HP:0000944" ], "is_obsolete": "", "replace_id": "" }, "HP:0003909": { "name": [ "cortical subperiosteal resorption of humeral metaphyses", "cortical subperiosteal resorption of humeral metaphyses" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025515" ], "is_a": [ "HP:0003907" ], "is_obsolete": "", "replace_id": "" }, "HP:0003910": { "name": [ "enlarged humeral metaphyses", "enlarged humeral metaphyses" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged wide portion of long bone of upper arm", "enlarge wide portion of long bone of upper arm" ], [ "expanded humeral metaphyses", "expand humeral metaphyses" ] ], "xref": [ "UMLS:C4021707" ], "is_a": [ "HP:0003051", "HP:0003907" ], "is_obsolete": "", "replace_id": "" }, "HP:0003911": { "name": [ "flared humeral metaphysis", "flared humeral metaphysis" ], "alt_id": [ "HP:0003925" ], "def": "Flaring (increase of width with a splayed appearance) of the humeral metaphysis.", "synonym": [ [ "flared humerus", "flare humerus" ], [ "flared wide portion of long bone of upper arm", "flare wide portion of long bone of upper arm" ], [ "wide / broad humeral metaphysis", "wide / broad humeral metaphysis" ] ], "xref": [ "UMLS:C4020835", "UMLS:C4020912" ], "is_a": [ "HP:0003849", "HP:0003907" ], "is_obsolete": "", "replace_id": "" }, "HP:0003912": { "name": [ "frayed humeral metaphyses", "frayed humeral metaphyses" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025514" ], "is_a": [ "HP:0003907" ], "is_obsolete": "", "replace_id": "" }, "HP:0003913": { "name": [ "humeral metaphyseal irregularity", "humeral metaphyseal irregularity" ], "alt_id": [], "def": "", "synonym": [ [ "irregular humeral metaphyses", "irregular humeral metaphyses" ], [ "irregular wide portion of long bone in upper arm", "irregular wide portion of long bone in upper arm" ] ], "xref": [ "UMLS:C4021706" ], "is_a": [ "HP:0003850", "HP:0003907" ], "is_obsolete": "", "replace_id": "" }, "HP:0003914": { "name": [ "irregular ossification of humeral metaphyses", "irregular ossification of humeral metaphyses" ], "alt_id": [], "def": "", "synonym": [ [ "irregular bone maturation of the wide portion of the long bone in upper arm", "irregular bone maturation of the wide portion of the long bone in upper arm" ] ], "xref": [ "UMLS:C4025513" ], "is_a": [ "HP:0003907", "HP:0012791" ], "is_obsolete": "", "replace_id": "" }, "HP:0003915": { "name": [ "lytic defects of the humeral metaphysis", "lytic defect of the humeral metaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025512" ], "is_a": [ "HP:0003851", "HP:0003907" ], "is_obsolete": "", "replace_id": "" }, "HP:0003916": { "name": [ "normal - density transverse humeral bands", "normal - density transverse humeral band" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025511" ], "is_a": [ "HP:0003852", "HP:0003907" ], "is_obsolete": "", "replace_id": "" }, "HP:0003917": { "name": [ "pointed humeral metaphysis", "point humeral metaphysis" ], "alt_id": [], "def": "", "synonym": [ [ "pointed wide portion of long bone of upper arm", "point wide portion of long bone of upper arm" ] ], "xref": [ "UMLS:C4025510" ], "is_a": [ "HP:0003907" ], "is_obsolete": "", "replace_id": "" }, "HP:0003918": { "name": [ "sclerotic humeral metaphysis", "sclerotic humeral metaphysis" ], "alt_id": [], "def": "", "synonym": [ [ "hardening of wide portion of long bone of upper arm", "hardening of wide portion of long bone of upper arm" ], [ "stiffening of wide portion of long bone of upper arm", "stiffening of wide portion of long bone of upper arm" ] ], "xref": [ "UMLS:C4025509" ], "is_a": [ "HP:0003907" ], "is_obsolete": "", "replace_id": "" }, "HP:0003919": { "name": [ "sclerotic humeral metaphysis with longitudinal striations", "sclerotic humeral metaphysis with longitudinal striation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025508" ], "is_a": [ "HP:0003918" ], "is_obsolete": "", "replace_id": "" }, "HP:0003920": { "name": [ "sloping humeral metaphysis", "slop humeral metaphysis" ], "alt_id": [], "def": "", "synonym": [ [ "sloping metaphysis of long bone of upper arm", "slop metaphysis of long bone of upper arm" ] ], "xref": [ "UMLS:C4025507" ], "is_a": [ "HP:0003907" ], "is_obsolete": "", "replace_id": "" }, "HP:0003921": { "name": [ "laterally sloping humeral metaphysis", "laterally slop humeral metaphysis" ], "alt_id": [], "def": "", "synonym": [ [ "laterally sloping metaphysis of long bone of upper arm", "laterally slop metaphysis of long bone of upper arm" ] ], "xref": [ "UMLS:C4025506" ], "is_a": [ "HP:0003920" ], "is_obsolete": "", "replace_id": "" }, "HP:0003922": { "name": [ "spurred humeral metaphysis", "spur humeral metaphysis" ], "alt_id": [], "def": "", "synonym": [ [ "spurred metaphysis of long bone of upper arm", "spur metaphysis of long bone of upper arm" ] ], "xref": [ "UMLS:C4025505" ], "is_a": [ "HP:0003907" ], "is_obsolete": "", "replace_id": "" }, "HP:0003923": { "name": [ "square humeral metaphysis", "square humeral metaphysis" ], "alt_id": [], "def": "", "synonym": [ [ "square metaphysis of long bone of upper arm", "square metaphysis of long bone of upper arm" ] ], "xref": [ "UMLS:C4025504" ], "is_a": [ "HP:0003907" ], "is_obsolete": "", "replace_id": "" }, "HP:0003924": { "name": [ "stippled calcification of humeral metaphysis", "stipple calcification of humeral metaphysis" ], "alt_id": [], "def": "", "synonym": [ [ "speckled calcification in metaphysis of long bone of upper arm", "speckle calcification in metaphysis of long bone of upper arm" ] ], "xref": [ "UMLS:C4025503" ], "is_a": [ "HP:0003907" ], "is_obsolete": "", "replace_id": "" }, "HP:0003926": { "name": [ "abnormality of the humeral diaphysis", "abnormality of the humeral diaphysis" ], "alt_id": [], "def": "An anomaly of the humeral diaphysis.", "synonym": [ [ "abnormality of shaft of long bone in upper arm", "abnormality of shaft of long bone in upper arm" ] ], "xref": [ "UMLS:C4025502" ], "is_a": [ "HP:0009808", "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0003927": { "name": [ "cortical irregularity of humeral diaphysis", "cortical irregularity of humeral diaphysis" ], "alt_id": [], "def": "An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.", "synonym": [], "xref": [ "UMLS:C4025501" ], "is_a": [ "HP:0003858", "HP:0003867", "HP:0003926" ], "is_obsolete": "", "replace_id": "" }, "HP:0003928": { "name": [ "cortical thickening of humeral diaphysis", "cortical thickening of humeral diaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025500" ], "is_a": [ "HP:0003859", "HP:0003926" ], "is_obsolete": "", "replace_id": "" }, "HP:0003929": { "name": [ "ground glass opacity of humeral diaphysis", "ground glass opacity of humeral diaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025499" ], "is_a": [ "HP:0003926" ], "is_obsolete": "", "replace_id": "" }, "HP:0003930": { "name": [ "lytic defects of humeral diaphysis", "lytic defect of humeral diaphysis" ], "alt_id": [], "def": "", "synonym": [ [ "humeral diaphyseal lysis", "humeral diaphyseal lysis" ] ], "xref": [ "UMLS:C4021705" ], "is_a": [ "HP:0003926" ], "is_obsolete": "", "replace_id": "" }, "HP:0003931": { "name": [ "periosteal new bone of humeral diaphysis", "periosteal new bone of humeral diaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025498" ], "is_a": [ "HP:0003926", "HP:0030314" ], "is_obsolete": "", "replace_id": "" }, "HP:0003932": { "name": [ "sclerotic foci of humeral diaphysis", "sclerotic focus of humeral diaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025497" ], "is_a": [ "HP:0003926" ], "is_obsolete": "", "replace_id": "" }, "HP:0003933": { "name": [ "sclerosis of humeral diaphysis", "sclerosis of humeral diaphysis" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in shaft of long bone in upper arm", "increase bone density in shaft of long bone in upper arm" ] ], "xref": [ "UMLS:C4025496" ], "is_a": [ "HP:0003860", "HP:0003926" ], "is_obsolete": "", "replace_id": "" }, "HP:0003934": { "name": [ "slender humeral diaphysis", "slender humeral diaphysis" ], "alt_id": [], "def": "", "synonym": [ [ "slender shaft of long bone in upper arm", "slender shaft of long bone in upper arm" ] ], "xref": [ "UMLS:C4025495" ], "is_a": [ "HP:0003926" ], "is_obsolete": "", "replace_id": "" }, "HP:0003935": { "name": [ "wide humeral diaphysis", "wide humeral diaphysis" ], "alt_id": [], "def": "Increased width of the humeral diaphysis.", "synonym": [ [ "broad humeral diaphysis", "broad humeral diaphysis" ], [ "broad shaft of long bone in upper arm", "broad shaft of long bone in upper arm" ], [ "wide shaft of long bone in upper arm", "wide shaft of long bone in upper arm" ] ], "xref": [ "UMLS:C4021704" ], "is_a": [ "HP:0003861", "HP:0003926" ], "is_obsolete": "", "replace_id": "" }, "HP:0003938": { "name": [ "synostosis involving the elbow", "synostosis involve the elbow" ], "alt_id": [], "def": "", "synonym": [ [ "bone fusion involving the elbow", "bone fusion involve the elbow" ] ], "xref": [ "UMLS:C4025494" ], "is_a": [ "HP:0009811", "HP:0100238" ], "is_obsolete": "", "replace_id": "" }, "HP:0003939": { "name": [ "humeroulnar synostosis", "humeroulnar synostosis" ], "alt_id": [], "def": "An abnormal osseous union (fusion) between the ulna and the humerus.", "synonym": [ [ "humeral ulnar synostosis", "humeral ulnar synostosis" ] ], "xref": [ "SNOMEDCT_US:205330003", "UMLS:C0431799" ], "is_a": [ "HP:0003938", "HP:0100745" ], "is_obsolete": "", "replace_id": "" }, "HP:0003940": { "name": [ "osteoarthritis of the elbow", "osteoarthritis of the elbow" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:239866002", "UMLS:C0409954" ], "is_a": [ "HP:0002758", "HP:0009811" ], "is_obsolete": "", "replace_id": "" }, "HP:0003941": { "name": [ "stippled calcification of the elbow", "stipple calcification of the elbow" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025493" ], "is_a": [ "HP:0009811" ], "is_obsolete": "", "replace_id": "" }, "HP:0003942": { "name": [ "synovial chondromatosis of the elbow", "synovial chondromatosis of the elbow" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025492" ], "is_a": [ "HP:0009811" ], "is_obsolete": "", "replace_id": "" }, "HP:0003943": { "name": [ "abnormality of the joint spaces of the elbow", "abnormality of the joint space of the elbow" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the joint spaces of the elbow", "abnormality of the joint space of the elbow" ] ], "xref": [ "UMLS:C4025491" ], "is_a": [ "HP:0009811" ], "is_obsolete": "", "replace_id": "" }, "HP:0003944": { "name": [ "narrow joint spaces of the elbow", "narrow joint space of the elbow" ], "alt_id": [], "def": "", "synonym": [ [ "narrow joint spaces of the elbow", "narrow joint space of the elbow" ] ], "xref": [ "UMLS:C4025490" ], "is_a": [ "HP:0003943" ], "is_obsolete": "", "replace_id": "" }, "HP:0003945": { "name": [ "irregular articular surfaces of the elbow joints", "irregular articular surface of the elbow joint" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025489" ], "is_a": [ "HP:0009811" ], "is_obsolete": "", "replace_id": "" }, "HP:0003946": { "name": [ "abnormality of the epiphyses of the elbow", "abnormality of the epiphysis of the elbow" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of end part of the elbow bone", "abnormality of end part of the elbow bone" ] ], "xref": [ "UMLS:C4025488" ], "is_a": [ "HP:0003839", "HP:0009811" ], "is_obsolete": "", "replace_id": "" }, "HP:0003947": { "name": [ "delayed elbow epiphyseal ossification", "delay elbow epiphyseal ossification" ], "alt_id": [], "def": "A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow.", "synonym": [ [ "delayed maturation of the end part of the elbow bone", "delay maturation of the end part of the elbow bone" ] ], "xref": [ "UMLS:C4025487" ], "is_a": [ "HP:0003840", "HP:0003946" ], "is_obsolete": "", "replace_id": "" }, "HP:0003948": { "name": [ "irregular epiphyses of the elbow", "irregular epiphysis of the elbow" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the elbow bone", "irregular end part of the elbow bone" ] ], "xref": [ "UMLS:C4025486" ], "is_a": [ "HP:0003842", "HP:0003946" ], "is_obsolete": "", "replace_id": "" }, "HP:0003949": { "name": [ "abnormality of the elbow metaphyses", "abnormality of the elbow metaphyses" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal wide portion of elbow bone", "abnormal wide portion of elbow bone" ] ], "xref": [ "UMLS:C4025485" ], "is_a": [ "HP:0009809", "HP:0009811" ], "is_obsolete": "", "replace_id": "" }, "HP:0003950": { "name": [ "flared elbow metaphyses", "flare elbow metaphyses" ], "alt_id": [], "def": "", "synonym": [ [ "flared wide portion of elbow bone", "flare wide portion of elbow bone" ] ], "xref": [ "UMLS:C4025484" ], "is_a": [ "HP:0003849", "HP:0003949" ], "is_obsolete": "", "replace_id": "" }, "HP:0003951": { "name": [ "distal humeral metaphyseal irregularity", "distal humeral metaphyseal irregularity" ], "alt_id": [], "def": "Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).", "synonym": [ [ "irregular metaphyses of elbow", "irregular metaphyses of elbow" ], [ "irregular wide portion of elbow bone", "irregular wide portion of elbow bone" ] ], "xref": [ "UMLS:C4021703" ], "is_a": [ "HP:0003913", "HP:0003949" ], "is_obsolete": "", "replace_id": "" }, "HP:0003952": { "name": [ "sclerotic foci of metaphyses of the elbow", "sclerotic focus of metaphyses of the elbow" ], "alt_id": [], "def": "", "synonym": [ [ "vertical linear mixed lucent and sclerotic pattern of metaphyses", "vertical linear mixed lucent and sclerotic pattern of metaphyses" ] ], "xref": [ "UMLS:C4021702" ], "is_a": [ "HP:0003854", "HP:0003949" ], "is_obsolete": "", "replace_id": "" }, "HP:0003953": { "name": [ "absent forearm bone", "absent forearm bone" ], "alt_id": [], "def": "Absence of one or more forearm bones associated with congenital failure of development.", "synonym": [ [ "absent forearm bone", "absent forearm bone" ], [ "aplasia of the forearm bones", "aplasia of the forearm bone" ] ], "xref": [ "UMLS:C4021701" ], "is_a": [ "HP:0006503" ], "is_obsolete": "", "replace_id": "" }, "HP:0003954": { "name": [ "angulated forearm bones", "angulate forearm bone" ], "alt_id": [], "def": "", "synonym": [ [ "angulated forearm bones", "angulate forearm bone" ] ], "xref": [ "UMLS:C4025483" ], "is_a": [ "HP:0040073" ], "is_obsolete": "", "replace_id": "" }, "HP:0003955": { "name": [ "bone - in - a - bone appearance of forearm", "bone - in - a - bone appearance of forearm" ], "alt_id": [], "def": "A descriptive term for a forearm bone that appears to have an additional bone within it on radiography.", "synonym": [ [ "bone - in - a - bone appearance of forearm", "bone - in - a - bone appearance of forearm" ] ], "xref": [ "UMLS:C4025482" ], "is_a": [ "HP:0002973" ], "is_obsolete": "", "replace_id": "" }, "HP:0003956": { "name": [ "bowed forearm bones", "bow forearm bone" ], "alt_id": [], "def": "A bending or abnormal curvature affecting either the radius, the ulna, or both.", "synonym": [ [ "bowed forearm bones", "bow forearm bone" ] ], "xref": [ "UMLS:C4025481" ], "is_a": [ "HP:0006488", "HP:0040073" ], "is_obsolete": "", "replace_id": "" }, "HP:0003957": { "name": [ "cortical thickening of the forearm bones", "cortical thickening of the forearm bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021842" ], "is_a": [ "HP:0040072" ], "is_obsolete": "", "replace_id": "" }, "HP:0003958": { "name": [ "cross - fusion of the forearm bones", "cross - fusion of the forearm bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025480" ], "is_a": [ "HP:0040072" ], "is_obsolete": "", "replace_id": "" }, "HP:0003959": { "name": [ "deformed forearm bones", "deform forearm bone" ], "alt_id": [], "def": "", "synonym": [ [ "deformed forearm bones", "deform forearm bone" ] ], "xref": [ "UMLS:C4025479" ], "is_a": [ "HP:0040073" ], "is_obsolete": "", "replace_id": "" }, "HP:0003960": { "name": [ "exostoses of the forearm bones", "exostosis of the forearm bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025478" ], "is_a": [ "HP:0040072", "HP:0100777" ], "is_obsolete": "", "replace_id": "" }, "HP:0003961": { "name": [ "fractured forearm bones", "fracture forearm bone" ], "alt_id": [], "def": "Bone fracture in the radius, ulna, or wrist.", "synonym": [ [ "broken forearm", "broken forearm" ], [ "fracture of the forearm", "fracture of the forearm" ], [ "fractured forearm bones", "fracture forearm bone" ] ], "xref": [ "UMLS:C4025477" ], "is_a": [ "HP:0020110", "HP:0040073" ], "is_obsolete": "", "replace_id": "" }, "HP:0003963": { "name": [ "lytic defects of the forearm bones", "lytic defect of the forearm bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025476" ], "is_a": [ "HP:0040072" ], "is_obsolete": "", "replace_id": "" }, "HP:0003964": { "name": [ "osteoporotic forearm bones", "osteoporotic forearm bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025475" ], "is_a": [ "HP:0040072" ], "is_obsolete": "", "replace_id": "" }, "HP:0003965": { "name": [ "pseudarthrosis of the forearm bones", "pseudarthrosis of the forearm bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025474" ], "is_a": [ "HP:0040072" ], "is_obsolete": "", "replace_id": "" }, "HP:0003966": { "name": [ "sclerotic foci in forearm bones", "sclerotic focus in forearm bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025473" ], "is_a": [ "HP:0040072" ], "is_obsolete": "", "replace_id": "" }, "HP:0003967": { "name": [ "sclerotic forearm bones", "sclerotic forearm bone" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density of forearm bones", "increase bone density of forearm bone" ] ], "xref": [ "UMLS:C4025472" ], "is_a": [ "HP:0040072" ], "is_obsolete": "", "replace_id": "" }, "HP:0003969": { "name": [ "slender forearm bones", "slender forearm bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025471" ], "is_a": [ "HP:0040073" ], "is_obsolete": "", "replace_id": "" }, "HP:0003970": { "name": [ "undermodelled forearm bones", "undermodelled forearm bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025470" ], "is_a": [ "HP:0040072" ], "is_obsolete": "", "replace_id": "" }, "HP:0003971": { "name": [ "broad forearm bones", "broad forearm bone" ], "alt_id": [], "def": "Abnormally wide bone of the skeleton of forearm.", "synonym": [ [ "broad forearm bones", "broad forearm bone" ], [ "wide forearm bones", "wide forearm bone" ] ], "xref": [ "UMLS:C4021700" ], "is_a": [ "HP:0040073" ], "is_obsolete": "", "replace_id": "" }, "HP:0003973": { "name": [ "wide radioulnar joints", "wide radioulnar joint" ], "alt_id": [], "def": "", "synonym": [ [ "broad radioulnar joints", "broad radioulnar joint" ] ], "xref": [ "UMLS:C4021699" ], "is_a": [ "HP:0003037", "HP:0003059" ], "is_obsolete": "", "replace_id": "" }, "HP:0003974": { "name": [ "absent radius", "absent radius" ], "alt_id": [ "HP:0002819", "HP:0005012" ], "def": "Missing radius bone associated with congenital failure of development.", "synonym": [ [ "absence of radius and ulna", "absence of radius and ulna" ], [ "absent ossification / absence of radius", "absent ossification / absence of radius" ], [ "aplasia of the radius", "aplasia of the radius" ], [ "missing outer large bone of forearm", "miss outer large bone of forearm" ], [ "radial aplasia", "radial aplasia" ] ], "xref": [ "UMLS:C1405984", "UMLS:C1838608", "UMLS:C1849314" ], "is_a": [ "HP:0003953", "HP:0006501", "HP:0009822" ], "is_obsolete": "", "replace_id": "" }, "HP:0003975": { "name": [ "obsolete chevron - shaped / cone - shaped radius", "obsolete chevron - shape / cone - shape radius" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0004000" }, "HP:0003976": { "name": [ "constricted radius", "constrict radius" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025468" ], "is_a": [ "HP:0003330", "HP:0045009" ], "is_obsolete": "", "replace_id": "" }, "HP:0003977": { "name": [ "deformed radius", "deform radius" ], "alt_id": [ "HP:0005046" ], "def": "", "synonym": [], "xref": [ "UMLS:C4025467" ], "is_a": [ "HP:0003959", "HP:0045009" ], "is_obsolete": "", "replace_id": "" }, "HP:0003978": { "name": [ "fractured radius", "fracture radius" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D011885", "SNOMEDCT_US:12676007", "UMLS:C0034628" ], "is_a": [ "HP:0003084", "HP:0003961", "HP:0045009" ], "is_obsolete": "", "replace_id": "" }, "HP:0003979": { "name": [ "lytic defects of the radius", "lytic defect of the radius" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021841" ], "is_a": [ "HP:0002818", "HP:0003963" ], "is_obsolete": "", "replace_id": "" }, "HP:0003980": { "name": [ "pseudarthrosis of the radius", "pseudarthrosis of the radius" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025466" ], "is_a": [ "HP:0002818", "HP:0003965" ], "is_obsolete": "", "replace_id": "" }, "HP:0003981": { "name": [ "broad radius", "broad radius" ], "alt_id": [], "def": "Increased width of the radius.", "synonym": [ [ "wide radius", "wide radius" ] ], "xref": [ "UMLS:C4021698" ], "is_a": [ "HP:0003971", "HP:0005622", "HP:0045009" ], "is_obsolete": "", "replace_id": "" }, "HP:0003982": { "name": [ "aplasia of the ulna", "aplasia of the ulna" ], "alt_id": [], "def": "Missing ulna bone associated with congenital failure of development.", "synonym": [ [ "absent ossification / absent ulna", "absent ossification / absent ulna" ], [ "absent ulna", "absent ulna" ], [ "absent ulnae", "absent ulna" ] ], "xref": [ "UMLS:C2678397" ], "is_a": [ "HP:0003953", "HP:0006495", "HP:0009822" ], "is_obsolete": "", "replace_id": "" }, "HP:0003984": { "name": [ "posteriorly dislocated ulna", "posteriorly dislocate ulna" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025465" ], "is_a": [ "HP:0002997" ], "is_obsolete": "", "replace_id": "" }, "HP:0003985": { "name": [ "exostoses of the ulna", "exostosis of the ulna" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025464" ], "is_a": [ "HP:0002997", "HP:0003960" ], "is_obsolete": "", "replace_id": "" }, "HP:0003986": { "name": [ "exostoses of the radius", "exostosis of the radius" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025463" ], "is_a": [ "HP:0002818", "HP:0003960" ], "is_obsolete": "", "replace_id": "" }, "HP:0003987": { "name": [ "fractured ulna", "fracture ulna" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D014458", "SNOMEDCT_US:54556006", "UMLS:C0041601" ], "is_a": [ "HP:0003084", "HP:0003961", "HP:0040071" ], "is_obsolete": "", "replace_id": "" }, "HP:0003988": { "name": [ "long ulna", "long ulna" ], "alt_id": [ "HP:0006435" ], "def": "Increased length of the ulna.", "synonym": [ [ "disproportionately long ulnae", "disproportionately long ulna" ] ], "xref": [ "UMLS:C1848108" ], "is_a": [ "HP:0002997" ], "is_obsolete": "", "replace_id": "" }, "HP:0003989": { "name": [ "notched ulna", "notch ulna" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025462" ], "is_a": [ "HP:0002997" ], "is_obsolete": "", "replace_id": "" }, "HP:0003990": { "name": [ "pointed ulna", "point ulna" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025461" ], "is_a": [ "HP:0002997" ], "is_obsolete": "", "replace_id": "" }, "HP:0003991": { "name": [ "osteosclerosis of the ulna", "osteosclerosis of the ulna" ], "alt_id": [], "def": "Osteosclerosis (increased density related to increased bone mass) of the ulna.", "synonym": [ [ "sclerotic ulna", "sclerotic ulna" ] ], "xref": [ "UMLS:C4021697" ], "is_a": [ "HP:0002997", "HP:0003967", "HP:0006392" ], "is_obsolete": "", "replace_id": "" }, "HP:0003992": { "name": [ "slender ulna", "slender ulna" ], "alt_id": [], "def": "Reduction in diameter of the ulna.", "synonym": [], "xref": [ "UMLS:C1968814" ], "is_a": [ "HP:0002997", "HP:0003100", "HP:0003969" ], "is_obsolete": "", "replace_id": "" }, "HP:0003993": { "name": [ "broad ulna", "broad ulna" ], "alt_id": [ "HP:0200081" ], "def": "Increased width of the ulna.", "synonym": [ [ "wide ulna", "wide ulna" ] ], "xref": [ "UMLS:C4020692", "UMLS:C4025460" ], "is_a": [ "HP:0003971", "HP:0005622", "HP:0040071" ], "is_obsolete": "", "replace_id": "" }, "HP:0003994": { "name": [ "dislocated wrist", "dislocate wrist" ], "alt_id": [ "HP:0004992" ], "def": "An injury of the wrist with displacement of any of the eight carpal bones.", "synonym": [ [ "dislocated wrist", "dislocate wrist" ], [ "dislocations of the wrists", "dislocation of the wrist" ] ], "xref": [ "MEDDRA:10013184 \"Dislocation of wrist\"", "SNOMEDCT_US:125618007", "UMLS:C0159941" ], "is_a": [ "HP:0003019", "HP:0030310" ], "is_obsolete": "", "replace_id": "" }, "HP:0003995": { "name": [ "abnormality of the radial head", "abnormality of the radial head" ], "alt_id": [], "def": "", "synonym": [ [ "deformity of radial heads", "deformity of radial head" ] ], "xref": [ "UMLS:C4021696" ], "is_a": [ "HP:0002818" ], "is_obsolete": "", "replace_id": "" }, "HP:0003996": { "name": [ "flattened radial head", "flatten radial head" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025459" ], "is_a": [ "HP:0003995" ], "is_obsolete": "", "replace_id": "" }, "HP:0003997": { "name": [ "hypoplastic radial head", "hypoplastic radial head" ], "alt_id": [], "def": "", "synonym": [ [ "small radial head", "small radial head" ] ], "xref": [ "UMLS:C4021695" ], "is_a": [ "HP:0003995" ], "is_obsolete": "", "replace_id": "" }, "HP:0003998": { "name": [ "constricted radial neck", "constrict radial neck" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025458" ], "is_a": [ "HP:0003999" ], "is_obsolete": "", "replace_id": "" }, "HP:0003999": { "name": [ "abnormality of radial epiphyses", "abnormality of radial epiphysis" ], "alt_id": [ "HP:0004011" ], "def": "", "synonym": [ [ "abnormality of radial epiphyseal plates", "abnormality of radial epiphyseal plate" ] ], "xref": [ "UMLS:C4021694" ], "is_a": [ "HP:0002818", "HP:0003839" ], "is_obsolete": "", "replace_id": "" }, "HP:0004000": { "name": [ "cone - shaped distal radial epiphysis", "cone - shaped distal radial epiphysis" ], "alt_id": [ "HP:0003975" ], "def": "The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance.", "synonym": [ [ "chevron - shaped distal radial epiphysis", "chevron - shaped distal radial epiphysis" ] ], "xref": [ "UMLS:C4025457" ], "is_a": [ "HP:0003999", "HP:0010579" ], "is_obsolete": "", "replace_id": "" }, "HP:0004001": { "name": [ "medially deficient radial epiphyses", "medially deficient radial epiphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025456" ], "is_a": [ "HP:0003999" ], "is_obsolete": "", "replace_id": "" }, "HP:0004002": { "name": [ "flattened radial epiphyses", "flatten radial epiphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025455" ], "is_a": [ "HP:0003071", "HP:0003999" ], "is_obsolete": "", "replace_id": "" }, "HP:0004003": { "name": [ "medially flattened radial epiphyses", "medially flatten radial epiphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025454" ], "is_a": [ "HP:0004002" ], "is_obsolete": "", "replace_id": "" }, "HP:0004004": { "name": [ "irregular radial epiphyses", "irregular radial epiphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025453" ], "is_a": [ "HP:0003999", "HP:0010582" ], "is_obsolete": "", "replace_id": "" }, "HP:0004005": { "name": [ "large radial epiphyses", "large radial epiphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025452" ], "is_a": [ "HP:0003999", "HP:0010580" ], "is_obsolete": "", "replace_id": "" }, "HP:0004006": { "name": [ "round radial epiphyses", "round radial epiphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025451" ], "is_a": [ "HP:0003999" ], "is_obsolete": "", "replace_id": "" }, "HP:0004007": { "name": [ "sclerotic radial epiphyses", "sclerotic radial epiphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025450" ], "is_a": [ "HP:0003999" ], "is_obsolete": "", "replace_id": "" }, "HP:0004008": { "name": [ "sloping radial epiphyses", "slop radial epiphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025449" ], "is_a": [ "HP:0003999" ], "is_obsolete": "", "replace_id": "" }, "HP:0004009": { "name": [ "medially sloping radial epiphyses", "medially slop radial epiphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025448" ], "is_a": [ "HP:0004008" ], "is_obsolete": "", "replace_id": "" }, "HP:0004010": { "name": [ "small radial epiphyses", "small radial epiphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025447" ], "is_a": [ "HP:0003999", "HP:0010585" ], "is_obsolete": "", "replace_id": "" }, "HP:0004012": { "name": [ "premature fusion of the radial epiphyseal plates", "premature fusion of the radial epiphyseal plate" ], "alt_id": [], "def": "A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone.", "synonym": [], "xref": [ "UMLS:C4025446" ], "is_a": [ "HP:0003999" ], "is_obsolete": "", "replace_id": "" }, "HP:0004013": { "name": [ "medially fused radial epiphyseal plates", "medially fuse radial epiphyseal plate" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025445" ], "is_a": [ "HP:0004012" ], "is_obsolete": "", "replace_id": "" }, "HP:0004014": { "name": [ "broad radial epiphyseal plate", "broad radial epiphyseal plate" ], "alt_id": [], "def": "Abnormal increase in width of the epiphyseal growth plate of the radius.", "synonym": [ [ "wide radial epiphyseal plates", "wide radial epiphyseal plate" ] ], "xref": [ "UMLS:C4021693" ], "is_a": [ "HP:0003999" ], "is_obsolete": "", "replace_id": "" }, "HP:0004015": { "name": [ "abnormality of radial metaphyses", "abnormality of radial metaphyses" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025444" ], "is_a": [ "HP:0002818", "HP:0009809" ], "is_obsolete": "", "replace_id": "" }, "HP:0004016": { "name": [ "cupped radial metaphyses", "cup radial metaphyses" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025443" ], "is_a": [ "HP:0003848", "HP:0004015" ], "is_obsolete": "", "replace_id": "" }, "HP:0004017": { "name": [ "exostoses of the radial metaphysis", "exostosis of the radial metaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025442" ], "is_a": [ "HP:0003986", "HP:0004015" ], "is_obsolete": "", "replace_id": "" }, "HP:0004018": { "name": [ "flared radial metaphysis", "flare radial metaphysis" ], "alt_id": [], "def": "The presence of a splayed (i.e.,flared) metaphyseal segment of the radius.", "synonym": [ [ "broadening of the distal radius", "broadening of the distal radius" ] ], "xref": [ "UMLS:C4025441" ], "is_a": [ "HP:0003849", "HP:0004015" ], "is_obsolete": "", "replace_id": "" }, "HP:0004019": { "name": [ "radial metaphyseal irregularity", "radial metaphyseal irregularity" ], "alt_id": [], "def": "Irregularity of the normally smooth surface of the metaphysis of the radius.", "synonym": [ [ "irregular radial metaphysis", "irregular radial metaphysis" ] ], "xref": [ "UMLS:C4021692" ], "is_a": [ "HP:0003850", "HP:0004015" ], "is_obsolete": "", "replace_id": "" }, "HP:0004020": { "name": [ "irregular ossification of the radial metaphysis", "irregular ossification of the radial metaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025440" ], "is_a": [ "HP:0003336", "HP:0004015" ], "is_obsolete": "", "replace_id": "" }, "HP:0004021": { "name": [ "lytic defects of radial metaphysis", "lytic defect of radial metaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025439" ], "is_a": [ "HP:0003851", "HP:0004015" ], "is_obsolete": "", "replace_id": "" }, "HP:0004022": { "name": [ "sclerotic radial metaphysis with longitudinal striations", "sclerotic radial metaphysis with longitudinal striation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025438" ], "is_a": [ "HP:0003854", "HP:0004015" ], "is_obsolete": "", "replace_id": "" }, "HP:0004023": { "name": [ "sloping radial metaphysis", "slop radial metaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025437" ], "is_a": [ "HP:0004015" ], "is_obsolete": "", "replace_id": "" }, "HP:0004024": { "name": [ "medially sloping radial metaphysis", "medially slop radial metaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025436" ], "is_a": [ "HP:0004023" ], "is_obsolete": "", "replace_id": "" }, "HP:0004025": { "name": [ "spurred radial metaphysis", "spur radial metaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025435" ], "is_a": [ "HP:0004015" ], "is_obsolete": "", "replace_id": "" }, "HP:0004026": { "name": [ "broad radial metaphysis", "broad radial metaphysis" ], "alt_id": [], "def": "Increase in width (breadth) of the radial metaphysis.", "synonym": [ [ "wide radial metaphysis", "wide radial metaphysis" ] ], "xref": [ "UMLS:C4021691" ], "is_a": [ "HP:0003856", "HP:0003981", "HP:0004015" ], "is_obsolete": "", "replace_id": "" }, "HP:0004027": { "name": [ "abnormality of radial diaphysis", "abnormality of radial diaphysis" ], "alt_id": [], "def": "An anomaly of the radial diaphysis.", "synonym": [], "xref": [ "UMLS:C4025434" ], "is_a": [ "HP:0002818", "HP:0009808" ], "is_obsolete": "", "replace_id": "" }, "HP:0004028": { "name": [ "spurs of radial diaphysis", "spur of radial diaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025433" ], "is_a": [ "HP:0004027" ], "is_obsolete": "", "replace_id": "" }, "HP:0004029": { "name": [ "lytic defects of radial diaphysis", "lytic defect of radial diaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025432" ], "is_a": [ "HP:0004027" ], "is_obsolete": "", "replace_id": "" }, "HP:0004030": { "name": [ "patchy sclerosis of radial diaphysis", "patchy sclerosis of radial diaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025431" ], "is_a": [ "HP:0004027" ], "is_obsolete": "", "replace_id": "" }, "HP:0004031": { "name": [ "broad radial diaphysis", "broad radial diaphysis" ], "alt_id": [], "def": "Increase in width of the diaphysis of radius.", "synonym": [ [ "wide radial diaphysis", "wide radial diaphysis" ] ], "xref": [ "UMLS:C4021690" ], "is_a": [ "HP:0004027" ], "is_obsolete": "", "replace_id": "" }, "HP:0004032": { "name": [ "abnormality of the olecranon", "abnormality of the olecranon" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025430" ], "is_a": [ "HP:0002997" ], "is_obsolete": "", "replace_id": "" }, "HP:0004033": { "name": [ "curved olecranon", "curve olecranon" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025429" ], "is_a": [ "HP:0004032" ], "is_obsolete": "", "replace_id": "" }, "HP:0004034": { "name": [ "irregular olecranon", "irregular olecranon" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025428" ], "is_a": [ "HP:0004032" ], "is_obsolete": "", "replace_id": "" }, "HP:0004035": { "name": [ "abnormality of the styloid process of ulna", "abnormality of the styloid process of ulna" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025427" ], "is_a": [ "HP:0004037" ], "is_obsolete": "", "replace_id": "" }, "HP:0004036": { "name": [ "long styloid process of ulna", "long styloid process of ulna" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025426" ], "is_a": [ "HP:0004035" ], "is_obsolete": "", "replace_id": "" }, "HP:0004037": { "name": [ "abnormality of the ulnar epiphyses", "abnormality of the ulnar epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the epiphyseal plate of the ulna", "abnormality of the epiphyseal plate of the ulna" ] ], "xref": [ "UMLS:C4021689" ], "is_a": [ "HP:0002997", "HP:0003839" ], "is_obsolete": "", "replace_id": "" }, "HP:0004038": { "name": [ "obsolete bony spicule of ulnar epiphyseal plate", "obsolete bony spicule of ulnar epiphyseal plate" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004039": { "name": [ "abnormality of ulnar metaphysis", "abnormality of ulnar metaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025424" ], "is_a": [ "HP:0002997", "HP:0009809" ], "is_obsolete": "", "replace_id": "" }, "HP:0004040": { "name": [ "corner fragments of ulnar metaphysis", "corner fragment of ulnar metaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025423" ], "is_a": [ "HP:0004039" ], "is_obsolete": "", "replace_id": "" }, "HP:0004041": { "name": [ "cupped ulnar metaphysis", "cup ulnar metaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025422" ], "is_a": [ "HP:0004039" ], "is_obsolete": "", "replace_id": "" }, "HP:0004042": { "name": [ "ulnar metaphyseal irregularity", "ulnar metaphyseal irregularity" ], "alt_id": [], "def": "Irregularity of the normally smooth surface of the metaphysis of the ulna.", "synonym": [ [ "irregular ulnar metaphysis", "irregular ulnar metaphysis" ] ], "xref": [ "UMLS:C4021688" ], "is_a": [ "HP:0003850", "HP:0004039" ], "is_obsolete": "", "replace_id": "" }, "HP:0004043": { "name": [ "lytic defects of ulnar metaphysis", "lytic defect of ulnar metaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025421" ], "is_a": [ "HP:0004039", "HP:0045039" ], "is_obsolete": "", "replace_id": "" }, "HP:0004044": { "name": [ "pointed ulnar metaphysis", "point ulnar metaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025420" ], "is_a": [ "HP:0004039" ], "is_obsolete": "", "replace_id": "" }, "HP:0004045": { "name": [ "sloping ulnar metaphysis", "slop ulnar metaphysis" ], "alt_id": [], "def": "A sloped configuration of the metaphysis (shaft) of the ulna.", "synonym": [], "xref": [ "UMLS:C4025419" ], "is_a": [ "HP:0004039" ], "is_obsolete": "", "replace_id": "" }, "HP:0004046": { "name": [ "spurred ulnar metaphysis", "spur ulnar metaphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025418" ], "is_a": [ "HP:0003855", "HP:0004039" ], "is_obsolete": "", "replace_id": "" }, "HP:0004047": { "name": [ "wide ulnar metaphysis", "wide ulnar metaphysis" ], "alt_id": [], "def": "Increase in width (breadth) of the ulnar metaphysis.", "synonym": [ [ "broad ulnar metaphysis", "broad ulnar metaphysis" ] ], "xref": [ "UMLS:C4021687" ], "is_a": [ "HP:0003856", "HP:0004039" ], "is_obsolete": "", "replace_id": "" }, "HP:0004048": { "name": [ "narrow joint spaces of wrist", "narrow joint space of wrist" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025417" ], "is_a": [ "HP:0003019" ], "is_obsolete": "", "replace_id": "" }, "HP:0004049": { "name": [ "decreased carpal angles of wrist", "decrease carpal angle of wrist" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025416" ], "is_a": [ "HP:0003019" ], "is_obsolete": "", "replace_id": "" }, "HP:0004050": { "name": [ "absent hand", "absent hand" ], "alt_id": [], "def": "The total absence of the hand, with no bony elements distal to the radius or ulna.", "synonym": [ [ "absent hand", "absent hand" ], [ "acheiria", "acheiria" ] ], "xref": [ "SNOMEDCT_US:371199008", "UMLS:C0265594" ], "is_a": [ "HP:0005927" ], "is_obsolete": "", "replace_id": "" }, "HP:0004051": { "name": [ "advanced ossification of the hand bones", "advanced ossification of the hand bone" ], "alt_id": [], "def": "Ossification of hand bones at an earlier age than normal.", "synonym": [ [ "accelerated maturation of hand bones", "accelerate maturation of hand bone" ], [ "advanced maturation of the hand bones", "advanced maturation of the hand bone" ] ], "xref": [ "UMLS:C4020834" ], "is_a": [ "HP:0010660" ], "is_obsolete": "", "replace_id": "" }, "HP:0004052": { "name": [ "delayed ossification of the hand bones", "delay ossification of the hand bone" ], "alt_id": [], "def": "Ossification of hand bones is less advanced than would be expected according to age-adjusted norms.", "synonym": [ [ "delay maturation / delayed ossification of the hand", "delay maturation / delay ossification of the hand" ], [ "delayed maturation of the hand bones", "delay maturation of the hand bone" ] ], "xref": [ "UMLS:C4020833", "UMLS:C4021686" ], "is_a": [ "HP:0010660" ], "is_obsolete": "", "replace_id": "" }, "HP:0004053": { "name": [ "dysharmonic maturation of the hand bones", "dysharmonic maturation of the hand bone" ], "alt_id": [ "HP:0006204" ], "def": "Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand.", "synonym": [ [ "disharmonic maturation of the hand bones", "disharmonic maturation of the hand bone" ], [ "dysharmonic ossification of the hand bones", "dysharmonic ossification of the hand bone" ] ], "xref": [ "UMLS:C4021685" ], "is_a": [ "HP:0010660" ], "is_obsolete": "", "replace_id": "" }, "HP:0004054": { "name": [ "sclerosis of hand bone", "sclerosis of hand bone" ], "alt_id": [ "HP:0004055" ], "def": "Osteosclerosis affecting one or more bones of the hand.", "synonym": [ [ "generalised sclerosis of hand bones", "generalised sclerosis of hand bone" ], [ "generalized sclerosis of hand bones", "generalized sclerosis of hand bone" ], [ "hand bone sclerosis", "hand bone sclerosis" ], [ "increased bone density in hand bone", "increase bone density in hand bone" ], [ "increased bone density in hand bones", "increase bone density in hand bone" ] ], "xref": [ "UMLS:C4021684" ], "is_a": [ "HP:0011001" ], "is_obsolete": "", "replace_id": "" }, "HP:0004057": { "name": [ "mitten deformity", "mitten deformity" ], "alt_id": [], "def": "Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \\\"mitten\\", "synonym": [ [ "pseudosyndactyly", "pseudosyndactyly" ] ], "xref": [ "UMLS:C1969236" ], "is_a": [ "HP:0005922" ], "is_obsolete": "", "replace_id": "" }, "HP:0004058": { "name": [ "hand monodactyly", "hand monodactyly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025415" ], "is_a": [ "HP:0001180" ], "is_obsolete": "", "replace_id": "" }, "HP:0004059": { "name": [ "radial club hand", "radial club hand" ], "alt_id": [], "def": "Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius.", "synonym": [], "xref": [ "UMLS:C4025414" ], "is_a": [ "HP:0006433", "HP:0009486" ], "is_obsolete": "", "replace_id": "" }, "HP:0004060": { "name": [ "trident hand", "trident hand" ], "alt_id": [], "def": "A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.", "synonym": [ [ "trident abnormality", "trident abnormality" ], [ "trident deformity", "trident deformity" ] ], "xref": [ "SNOMEDCT_US:249755001", "UMLS:C0426874" ], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0004066": { "name": [ "obsolete laterally deviated thumb phalanges", "obsolete laterally deviate thumb phalanx" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004083": { "name": [ "obsolete laterally deviated terminal thumb phalanx", "obsolete laterally deviate terminal thumb phalanx" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004090": { "name": [ "obsolete advanced maturation / advanced ossification of terminal thumb phalanx epiphysis", "obsolete advance maturation / advance ossification of terminal thumb phalanx epiphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004095": { "name": [ "curved fingers", "curve finger" ], "alt_id": [], "def": "", "synonym": [ [ "curved fingers", "curve finger" ] ], "xref": [ "UMLS:C4025413" ], "is_a": [ "HP:0001167", "HP:0005922" ], "is_obsolete": "", "replace_id": "" }, "HP:0004097": { "name": [ "deviation of finger", "deviation of finger" ], "alt_id": [ "HP:0006229" ], "def": "Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.", "synonym": [ [ "atypical position of finger", "atypical position of finger" ], [ "deviated fingers", "deviate finger" ], [ "finger pointing in a different direction than usual", "finger point in a different direction than usual" ] ], "xref": [ "SNOMEDCT_US:203556007", "SNOMEDCT_US:26517000", "UMLS:C0410740" ], "is_a": [ "HP:0001167", "HP:0009484" ], "is_obsolete": "", "replace_id": "" }, "HP:0004099": { "name": [ "macrodactyly", "macrodactyly" ], "alt_id": [], "def": "Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.", "synonym": [ [ "finger overgrowth", "finger overgrowth" ], [ "megalodactyly", "megalodactyly" ] ], "xref": [ "MEDDRA:10025386 \"Macrodactyly\"", "MSH:C562546", "SNOMEDCT_US:48449000", "UMLS:C0265552" ], "is_a": [ "HP:0011297" ], "is_obsolete": "", "replace_id": "" }, "HP:0004100": { "name": [ "abnormal 2nd finger morphology", "abnormal 2nd finger morphology" ], "alt_id": [], "def": "An anomaly of the second finger, also known as the index finger.", "synonym": [ [ "abnormality of index finger", "abnormality of index finger" ], [ "abnormality of the 2nd finger", "abnormality of the 2nd finger" ] ], "xref": [ "UMLS:C4021683" ], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0004110": { "name": [ "obsolete radially deviated index finger phalanges", "obsolete radially deviate index finger phalanx" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004112": { "name": [ "midline nasal groove", "midline nasal groove" ], "alt_id": [], "def": "An abnormal groove on the midline of the nose that may extend to the nasal tip.", "synonym": [ [ "central nasal groove", "central nasal groove" ], [ "midline nasal groove", "midline nasal groove" ] ], "xref": [ "UMLS:C4025412" ], "is_a": [ "HP:0004122" ], "is_obsolete": "", "replace_id": "" }, "HP:0004121": { "name": [ "obsolete radially displaced proximal index finger phalanx", "obsolete radially displace proximal index finger phalanx" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004122": { "name": [ "midline defect of the nose", "midline defect of the nose" ], "alt_id": [ "HP:0003190" ], "def": "This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.", "synonym": [ [ "central cleft of nose", "central cleft of nose" ], [ "central defect of nose", "central defect of nose" ], [ "central nasal defect", "central nasal defect" ], [ "midline cleft of nose", "midline cleft of nose" ], [ "midline defect of the nose", "midline defect of the nose" ], [ "midline nasal defect", "midline nasal defect" ] ], "xref": [ "UMLS:C4025411", "UMLS:C4280539" ], "is_a": [ "HP:0005105" ], "is_obsolete": "", "replace_id": "" }, "HP:0004132": { "name": [ "dimple on nasal tip", "dimple on nasal tip" ], "alt_id": [], "def": "An abnormal indentation of the skin in the region of the nasal tip.", "synonym": [ [ "dimple on nasal tip", "dimple on nasal tip" ], [ "dimpled tip of nose", "dimple tip of nose" ] ], "xref": [ "UMLS:C1863349" ], "is_a": [ "HP:0000436" ], "is_obsolete": "", "replace_id": "" }, "HP:0004138": { "name": [ "obsolete metaphyseal abnormality of middle phalanx of the 2nd finger", "obsolete metaphyseal abnormality of middle phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004139": { "name": [ "obsolete flared metaphysis of middle phalanx of index finger", "obsolete flare metaphysis of middle phalanx of index finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004143": { "name": [ "obsolete radially deviated terminal index finger phalanx", "obsolete radially deviate terminal index finger phalanx" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004144": { "name": [ "obsolete duplication of terminal index finger phalanx", "obsolete duplication of terminal index finger phalanx" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0009948" }, "HP:0004150": { "name": [ "abnormal 3rd finger morphology", "abnormal 3rd finger morphology" ], "alt_id": [], "def": "An anomaly of the third finger.", "synonym": [ [ "abnormality of the 3rd finger", "abnormality of the 3rd finger" ], [ "abnormality of the middle finger", "abnormality of the middle finger" ] ], "xref": [ "UMLS:C4021682" ], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0004153": { "name": [ "obsolete overgrowth of middle finger", "obsolete overgrowth of middle finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004157": { "name": [ "obsolete accessory middle - finger phalanges", "obsolete accessory middle - finger phalanx" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0009963" }, "HP:0004161": { "name": [ "obsolete periosteal new bone of middle finger phalanges", "obsolete periosteal new bone of middle finger phalanx" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004162": { "name": [ "obsolete radially pointed middle finger phalanges", "obsolete radially point middle finger phalanx" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004168": { "name": [ "obsolete radially pointed proximal middle - finger phalanx", "obsolete radially point proximal middle - finger phalanx" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004172": { "name": [ "abnormality of the middle phalanx of the 3rd finger", "abnormality of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal middle finger bone of the middle finger", "abnormal middle finger bone of the middle finger" ] ], "xref": [ "UMLS:C4025410" ], "is_a": [ "HP:0009316" ], "is_obsolete": "", "replace_id": "" }, "HP:0004174": { "name": [ "obsolete accessory middle phalanx of middle finger", "obsolete accessory middle phalanx of middle finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0009963" }, "HP:0004175": { "name": [ "obsolete periosteal new bone of middle phalanx of middle - finger", "obsolete periosteal new bone of middle phalanx of middle - finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004180": { "name": [ "short distal phalanx of the 3rd finger", "short distal phalanx of the 3rd finger" ], "alt_id": [ "HP:0004182" ], "def": "Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.", "synonym": [ [ "hypoplastic / small distal phalanx of the 3rd finger", "hypoplastic / small distal phalanx of the 3rd finger" ], [ "short distal phalanx of the third finger", "short distal phalanx of the third finger" ], [ "short outermost bone of the middle finger", "short outermost bone of the middle finger" ], [ "short terminal phalanx of middle finger", "short terminal phalanx of middle finger" ] ], "xref": [ "UMLS:C4021681" ], "is_a": [ "HP:0009421", "HP:0009461", "HP:0009882" ], "is_obsolete": "", "replace_id": "" }, "HP:0004183": { "name": [ "obsolete abnormality of the epiphyses of the terminal phalanx of the middle finger", "obsolete abnormality of the epiphysis of the terminal phalanx of the middle finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004184": { "name": [ "obsolete cone - shaped epiphysis of terminal phalanx of the middle finger", "obsolete cone - shaped epiphysis of terminal phalanx of the middle finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004185": { "name": [ "obsolete fused epiphysis of terminal phalanx of the middle finger", "obsolete fuse epiphysis of terminal phalanx of the middle finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004186": { "name": [ "obsolete large epiphysis of terminal phalanx of the middle finger", "obsolete large epiphysis of terminal phalanx of the middle finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004187": { "name": [ "obsolete prematurely fused epiphysis of terminal phalanx of the middle finger", "obsolete prematurely fused epiphysis of terminal phalanx of the middle finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004188": { "name": [ "abnormal 4th finger morphology", "abnormal 4th finger morphology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the 4th finger", "abnormality of the 4th finger" ], [ "abnormality of the ring finger", "abnormality of the ring finger" ] ], "xref": [ "UMLS:C4021680" ], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0004192": { "name": [ "obsolete bracket epiphyses of the 4th finger", "obsolete bracket epiphysis of the 4th finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0009394" }, "HP:0004193": { "name": [ "obsolete expanded phalanges of the ring finger", "obsolete expand phalanx of the ring finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004194": { "name": [ "obsolete hypoplastic phalanges of the ring finger", "obsolete hypoplastic phalanx of the ring finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004195": { "name": [ "osteolytic defects of the phalanges of the 4th finger", "osteolytic defect of the phalanx of the 4th finger" ], "alt_id": [], "def": "Osteolytic defects of the phalanges of the 4th (ring) finger.", "synonym": [ [ "lytic defects of the phalanges of the ring finger", "lytic defect of the phalanx of the ring finger" ] ], "xref": [ "UMLS:C4020832", "UMLS:C4025409" ], "is_a": [ "HP:0009172", "HP:0009771" ], "is_obsolete": "", "replace_id": "" }, "HP:0004196": { "name": [ "obsolete short phalanges of the ring finger", "obsolete short phalanx of the ring finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004197": { "name": [ "symphalangism of the 4th finger", "symphalangism of the 4th finger" ], "alt_id": [], "def": "Fusion of two or more bones of the 4th finger.", "synonym": [ [ "fused ring finger bones", "fuse ring finger bone" ], [ "symphalangism of the ring finger", "symphalangism of the ring finger" ] ], "xref": [ "UMLS:C4021679" ], "is_a": [ "HP:0009172", "HP:0009700", "HP:0009773" ], "is_obsolete": "", "replace_id": "" }, "HP:0004198": { "name": [ "obsolete wide / broad phalanges of the ring finger", "obsolete wide / broad phalanx of the ring finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004201": { "name": [ "obsolete expanded proximal phalanx of the ring finger", "obsolete expand proximal phalanx of the ring finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0009310" }, "HP:0004202": { "name": [ "obsolete lytic defects of the proximal phalanx of the ring finger", "obsolete lytic defect of the proximal phalanx of the ring finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0009312" }, "HP:0004203": { "name": [ "obsolete short proximal phalanx of the ring finger", "obsolete short proximal phalanx of the ring finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0009300" }, "HP:0004207": { "name": [ "abnormal 5th finger morphology", "abnormal 5th finger morphology" ], "alt_id": [], "def": "An abnormality affecting one or both 5th fingers.", "synonym": [ [ "abnormality of the 5th finger", "abnormality of the 5th finger" ], [ "abnormality of the little finger", "abnormality of the little finger" ], [ "abnormality of the pinkie finger", "abnormality of the pinkie finger" ], [ "abnormality of the pinky finger", "abnormality of the pinky finger" ] ], "xref": [ "UMLS:C4021678" ], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0004209": { "name": [ "clinodactyly of the 5th finger", "clinodactyly of the 5th finger" ], "alt_id": [ "HP:0001158", "HP:0001588", "HP:0004212", "HP:0006083", "HP:0006181", "HP:0009181" ], "def": "Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).", "synonym": [ [ "bilateral fifth digit clinodactyly", "bilateral fifth digit clinodactyly" ], [ "bilateral fifth finger clinodactyly", "bilateral fifth finger clinodactyly" ], [ "clinodactyly of fifth digit", "clinodactyly of fifth digit" ], [ "clinodactyly of the little finger", "clinodactyly of the little finger" ], [ "curvature of little finger", "curvature of little finger" ], [ "curvature of pinkie finger", "curvature of pinkie finger" ], [ "curvature of pinky finger", "curvature of pinky finger" ], [ "fifth finger clinodactyly", "fifth finger clinodactyly" ], [ "permanent curving of the pinkie finger", "permanent curving of the pinkie finger" ] ], "xref": [ "UMLS:C1850049", "UMLS:C4280538" ], "is_a": [ "HP:0009179", "HP:0040019" ], "is_obsolete": "", "replace_id": "" }, "HP:0004213": { "name": [ "abnormal 5th finger phalanx morphology", "abnormal 5th finger phalanx morphology" ], "alt_id": [], "def": "Abnormality of the phalanges of the 5th (little) finger.", "synonym": [ [ "abnormality of the little finger bone", "abnormality of the little finger bone" ], [ "abnormality of the phalanges of the 5th finger", "abnormality of the phalanx of the 5th finger" ], [ "abnormality of the pinkie finger bone", "abnormality of the pinkie finger bone" ], [ "abnormality of the pinky finger bone", "abnormality of the pinky finger bone" ] ], "xref": [ "UMLS:C4025408" ], "is_a": [ "HP:0004207", "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0004214": { "name": [ "curved phalanges of the 5th finger", "curve phalanx of the 5th finger" ], "alt_id": [], "def": "Curved phalanges of the 5th (little) finger.", "synonym": [ [ "curved little finger bone", "curve little finger bone" ], [ "curved pinkie finger bone", "curve pinkie finger bone" ], [ "curved pinky finger bone", "curve pinky finger bone" ] ], "xref": [ "UMLS:C4025407" ], "is_a": [ "HP:0004095", "HP:0004213", "HP:0009770" ], "is_obsolete": "", "replace_id": "" }, "HP:0004216": { "name": [ "osteolytic defects of the phalanges of the 5th finger", "osteolytic defect of the phalanx of the 5th finger" ], "alt_id": [], "def": "Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.", "synonym": [ [ "lytic defects of the phalanges of the little finger", "lytic defect of the phalanx of the little finger" ] ], "xref": [ "UMLS:C4021677" ], "is_a": [ "HP:0004213", "HP:0009771" ], "is_obsolete": "", "replace_id": "" }, "HP:0004218": { "name": [ "symphalangism of the 5th finger", "symphalangism of the 5th finger" ], "alt_id": [], "def": "Fusion of two or more bones of the 5th finger.", "synonym": [ [ "fifth finger symphalangism", "fifth finger symphalangism" ], [ "fused little finger bones", "fuse little finger bone" ], [ "fused pinkie finger bones", "fuse pinkie finger bone" ], [ "fused pinky finger bones", "fuse pinky finger bone" ], [ "symphalagism of the little finger", "symphalagism of the little finger" ] ], "xref": [ "UMLS:C4021676" ], "is_a": [ "HP:0004213", "HP:0009700", "HP:0009773" ], "is_obsolete": "", "replace_id": "" }, "HP:0004219": { "name": [ "abnormality of the middle phalanx of the 5th finger", "abnormality of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the middle bone of little finger", "abnormality of the middle bone of little finger" ], [ "abnormality of the middle bone of pinkie finger", "abnormality of the middle bone of pinkie finger" ], [ "abnormality of the middle bone of pinky finger", "abnormality of the middle bone of pinky finger" ] ], "xref": [ "UMLS:C4025406" ], "is_a": [ "HP:0004213" ], "is_obsolete": "", "replace_id": "" }, "HP:0004220": { "name": [ "short middle phalanx of the 5th finger", "short middle phalanx of the 5th finger" ], "alt_id": [ "HP:0001243", "HP:0003069", "HP:0004221", "HP:0005649", "HP:0005706", "HP:0005734", "HP:0005813" ], "def": "Hypoplastic/small middle phalanx of the fifth finger.", "synonym": [ [ "5th finger middle phalangeal hypoplasia", "5th finger middle phalangeal hypoplasia" ], [ "brachymesophalangism v", "brachymesophalangism v" ], [ "brachymesophalangy v ( finger )", "brachymesophalangy v ( finger )" ], [ "fifth finger mid - phalanx hypoplasia", "fifth finger mid - phalanx hypoplasia" ], [ "hypoplastic fifth finger middle phalanx", "hypoplastic fifth finger middle phalanx" ], [ "hypoplastic middle phalanx of the 5th finger", "hypoplastic middle phalanx of the 5th finger" ], [ "hypoplastic / small middle phalanx of the 5th finger", "hypoplastic / small middle phalanx of the 5th finger" ], [ "hypoplastic / small middle phalanx of the little finger", "hypoplastic / small middle phalanx of the little finger" ], [ "short middle bone of the little finger", "short middle bone of the little finger" ], [ "short middle bone of the pinkie finger", "short middle bone of the pinkie finger" ], [ "short middle bone of the pinky finger", "short middle bone of the pinky finger" ], [ "short middle phalanx of the little finger", "short middle phalanx of the little finger" ], [ "type a3 brachydactyly", "type a3 brachydactyly" ] ], "xref": [ "UMLS:C1834060" ], "is_a": [ "HP:0005819", "HP:0009161", "HP:0009237", "HP:0009370" ], "is_obsolete": "", "replace_id": "" }, "HP:0004222": { "name": [ "cone - shaped epiphysis of the distal phalanx of the 5th finger", "cone - shaped epiphysis of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.", "synonym": [ [ "cone - shaped end part of the outermost little finger bone", "cone - shaped end part of the outermost little finger bone" ], [ "cone - shaped end part of the outermost pinkie finger bone", "cone - shaped end part of the outermost pinkie finger bone" ], [ "cone - shaped end part of the outermost pinky finger bone", "cone - shaped end part of the outermost pinky finger bone" ], [ "cone - shaped epiphysis of the distal phalanx of the little finger", "cone - shaped epiphysis of the distal phalanx of the little finger" ] ], "xref": [ "UMLS:C4021675" ], "is_a": [ "HP:0009198", "HP:0009384", "HP:0010248" ], "is_obsolete": "", "replace_id": "" }, "HP:0004223": { "name": [ "ivory epiphysis of the distal phalanx of the 5th finger", "ivory epiphysis of the distal phalanx of the 5th finger" ], "alt_id": [ "HP:0004229" ], "def": "Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the outermost little finger bone", "increase bone density of end part of the outermost little finger bone" ], [ "increased bone density of end part of the outermost pinkie finger bone", "increase bone density of end part of the outermost pinkie finger bone" ], [ "increased bone density of end part of the outermost pinky finger bone", "increase bone density of end part of the outermost pinky finger bone" ], [ "ivory epiphysis of the distal phalanx of the little finger", "ivory epiphysis of the distal phalanx of the little finger" ], [ "ivory epiphysis of the terminal phalanx of the little finger", "ivory epiphysis of the terminal phalanx of the little finger" ] ], "xref": [ "UMLS:C4021674" ], "is_a": [ "HP:0009198", "HP:0009388", "HP:0010252" ], "is_obsolete": "", "replace_id": "" }, "HP:0004224": { "name": [ "abnormality of the epiphysis of the middle phalanx of the 5th finger", "abnormality of the epiphysis of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.", "synonym": [ [ "abnormality of the end part of middle little finger bone", "abnormality of the end part of middle little finger bone" ], [ "abnormality of the end part of middle pinkie finger bone", "abnormality of the end part of middle pinkie finger bone" ], [ "abnormality of the end part of middle pinky finger bone", "abnormality of the end part of middle pinky finger bone" ] ], "xref": [ "UMLS:C4025405" ], "is_a": [ "HP:0004219", "HP:0009152", "HP:0010244" ], "is_obsolete": "", "replace_id": "" }, "HP:0004225": { "name": [ "abnormality of the distal phalanx of the 5th finger", "abnormality of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "Abnormality of the distal phalanx of the 5th (little) finger.", "synonym": [ [ "abnormality of the distal phalanx of the little finger", "abnormality of the distal phalanx of the little finger" ], [ "abnormality of the outermost little finger bone", "abnormality of the outermost little finger bone" ], [ "abnormality of the outermost pinkie finger bone", "abnormality of the outermost pinkie finger bone" ], [ "abnormality of the outermost pinky finger bone", "abnormality of the outermost pinky finger bone" ], [ "abnormality of the terminal phalanx of the little finger", "abnormality of the terminal phalanx of the little finger" ] ], "xref": [ "UMLS:C4021673" ], "is_a": [ "HP:0004213" ], "is_obsolete": "", "replace_id": "" }, "HP:0004226": { "name": [ "curved distal phalanx of the 5th finger", "curve distal phalanx of the 5th finger" ], "alt_id": [], "def": "Curved appearance of the distal phalanx of the 5th (little) finger.", "synonym": [ [ "curved outermost little finger bone", "curve outermost little finger bone" ], [ "curved outermost pinkie finger bone", "curve outermost pinkie finger bone" ], [ "curved outermost pinky finger bone", "curve outermost pinky finger bone" ], [ "curved terminal phalanx of the little finger", "curve terminal phalanx of the little finger" ] ], "xref": [ "UMLS:C4021672" ], "is_a": [ "HP:0004214", "HP:0004225", "HP:0009838" ], "is_obsolete": "", "replace_id": "" }, "HP:0004227": { "name": [ "short distal phalanx of the 5th finger", "short distal phalanx of the 5th finger" ], "alt_id": [ "HP:0006171" ], "def": "Hypoplastic/small distal phalanx of the fifth finger.", "synonym": [ [ "brachytelophalangism v", "brachytelophalangism v" ], [ "fifth digit distal phalangeal hypoplasia", "fifth digit distal phalangeal hypoplasia" ], [ "hypoplastic / small terminal phalanx of the little finger", "hypoplastic / small terminal phalanx of the little finger" ], [ "short distal phalanx of the fifth finger", "short distal phalanx of the fifth finger" ], [ "short outermost little finger bone", "short outermost little finger bone" ], [ "short outermost pinkie finger bone", "short outermost pinkie finger bone" ], [ "short outermost pinky finger bone", "short outermost pinky finger bone" ] ], "xref": [ "UMLS:C1836674" ], "is_a": [ "HP:0009237", "HP:0009239", "HP:0009882" ], "is_obsolete": "", "replace_id": "" }, "HP:0004230": { "name": [ "subluxation of the proximal interphalangeal joint of the little finger", "subluxation of the proximal interphalangeal joint of the little finger" ], "alt_id": [], "def": "A partial dislocation of the proximal interphalangeal joint of the little finger.", "synonym": [ [ "partially dislocated innermost hinge joint of little finger", "partially dislocate innermost hinge joint of little finger" ], [ "partially dislocated innermost hinge joint of pinkie finger", "partially dislocate innermost hinge joint of pinkie finger" ], [ "partially dislocated innermost hinge joint of pinky finger", "partially dislocate innermost hinge joint of pinky finger" ] ], "xref": [ "UMLS:C4025404" ], "is_a": [ "HP:0004207", "HP:0032153" ], "is_obsolete": "", "replace_id": "" }, "HP:0004231": { "name": [ "carpal bone aplasia", "carpal bone aplasia" ], "alt_id": [ "HP:0005056", "HP:0006020", "HP:0006084" ], "def": "Congenital absence of a carpal bone.", "synonym": [ [ "absent carpal bone", "absent carpal bone" ], [ "absent carpal bones", "absent carpal bone" ], [ "absent carpal ossification center", "absent carpal ossification center" ], [ "absent carpal ossification centre", "absent carpal ossification centre" ], [ "absent wrist bone", "absent wrist bone" ], [ "aplastic carpal bone", "aplastic carpal bone" ], [ "missing wrist bone", "miss wrist bone" ] ], "xref": [ "UMLS:C1836219", "UMLS:C4280537" ], "is_a": [ "HP:0006502" ], "is_obsolete": "", "replace_id": "" }, "HP:0004232": { "name": [ "accessory carpal bones", "accessory carpal bone" ], "alt_id": [], "def": "The presence of more than the normal number of carpal bones.", "synonym": [ [ "extra wrist bones", "extra wrist bone" ], [ "supernumerary carpal bones", "supernumerary carpal bone" ] ], "xref": [ "SNOMEDCT_US:20136007", "SNOMEDCT_US:9181003", "UMLS:C0265609" ], "is_a": [ "HP:0001191", "HP:0004275" ], "is_obsolete": "", "replace_id": "" }, "HP:0004233": { "name": [ "advanced ossification of carpal bones", "advanced ossification of carpal bone" ], "alt_id": [ "HP:0006104" ], "def": "Ossification of carpal bones at an abnormally early age.", "synonym": [ [ "accelerated carpal bone maturation", "accelerate carpal bone maturation" ], [ "accelerated wrist bone maturation", "accelerate wrist bone maturation" ], [ "advanced carpal bone age", "advanced carpal bone age" ], [ "advanced carpal ossification", "advanced carpal ossification" ], [ "precociously ossified carpal bones", "precociously ossify carpal bone" ] ], "xref": [ "UMLS:C1849292", "UMLS:C4280536" ], "is_a": [ "HP:0006257" ], "is_obsolete": "", "replace_id": "" }, "HP:0004234": { "name": [ "bone - in - a - bone appearance of carpal bones", "bone - in - a - bone appearance of carpal bone" ], "alt_id": [], "def": "The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.", "synonym": [ [ "bone - in - a - bone appearance of wrist bones", "bone - in - a - bone appearance of wrist bone" ] ], "xref": [ "UMLS:C4025403" ], "is_a": [ "HP:0009164", "HP:0011001" ], "is_obsolete": "", "replace_id": "" }, "HP:0004235": { "name": [ "comma - shaped carpal bones", "comma - shape carpal bone" ], "alt_id": [], "def": "", "synonym": [ [ "comma - shaped wrist bones", "comma - shaped wrist bone" ] ], "xref": [ "UMLS:C4025402" ], "is_a": [ "HP:0006014" ], "is_obsolete": "", "replace_id": "" }, "HP:0004236": { "name": [ "irregular carpal bones", "irregular carpal bone" ], "alt_id": [], "def": "Carpal bones with irregular or fragmented margins.", "synonym": [ [ "irregular wrist bones", "irregular wrist bone" ] ], "xref": [ "UMLS:C4025401" ], "is_a": [ "HP:0006014" ], "is_obsolete": "", "replace_id": "" }, "HP:0004237": { "name": [ "large carpal bones", "large carpal bone" ], "alt_id": [], "def": "Increased size of carpal bones.", "synonym": [ [ "large carpals", "large carpal" ], [ "large wrist bones", "large wrist bone" ] ], "xref": [ "UMLS:C4021671" ], "is_a": [ "HP:0006014" ], "is_obsolete": "", "replace_id": "" }, "HP:0004238": { "name": [ "lytic defects of carpal bones", "lytic defect of carpal bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025400" ], "is_a": [ "HP:0001495" ], "is_obsolete": "", "replace_id": "" }, "HP:0004239": { "name": [ "proximally placed carpal bones", "proximally place carpal bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025399" ], "is_a": [ "HP:0001191" ], "is_obsolete": "", "replace_id": "" }, "HP:0004240": { "name": [ "sclerotic foci within carpal bones", "sclerotic focus within carpal bone" ], "alt_id": [], "def": "", "synonym": [ [ "hardened spots within wrist bones", "harden spot within wrist bone" ], [ "stiffened spots within wrist bones", "stiffen spot within wrist bone" ] ], "xref": [ "UMLS:C4025398", "UMLS:C4280535" ], "is_a": [ "HP:0004054", "HP:0009164" ], "is_obsolete": "", "replace_id": "" }, "HP:0004241": { "name": [ "stippled calcification in carpal bones", "stipple calcification in carpal bone" ], "alt_id": [ "HP:0006177" ], "def": "Point-shaped (punctate) calcifications affecting the carpal bones.", "synonym": [ [ "punctate calcifications of carpals", "punctate calcification of carpal" ] ], "xref": [ "UMLS:C1844846" ], "is_a": [ "HP:0004054", "HP:0009164" ], "is_obsolete": "", "replace_id": "" }, "HP:0004242": { "name": [ "broad carpal bones", "broad carpal bone" ], "alt_id": [], "def": "", "synonym": [ [ "wide carpal bones", "wide carpal bone" ], [ "wide wrist bones", "wide wrist bone" ] ], "xref": [ "UMLS:C3554618" ], "is_a": [ "HP:0004237" ], "is_obsolete": "", "replace_id": "" }, "HP:0004243": { "name": [ "abnormality of the scaphoid", "abnormality of the scaphoid" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025397" ], "is_a": [ "HP:0001191" ], "is_obsolete": "", "replace_id": "" }, "HP:0004244": { "name": [ "accessory scaphoid", "accessory scaphoid" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025396" ], "is_a": [ "HP:0004232", "HP:0004243" ], "is_obsolete": "", "replace_id": "" }, "HP:0004245": { "name": [ "comma - shaped scaphoid", "comma - shape scaphoid" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025395" ], "is_a": [ "HP:0004235", "HP:0004243" ], "is_obsolete": "", "replace_id": "" }, "HP:0004246": { "name": [ "delayed ossification of the scaphoid", "delay ossification of the scaphoid" ], "alt_id": [], "def": "Formation of bone tissue of scaphoid is less than expected for age.", "synonym": [ [ "delayed maturation of the scaphoid", "delay maturation of the scaphoid" ] ], "xref": [ "UMLS:C4021670" ], "is_a": [ "HP:0001216", "HP:0045003" ], "is_obsolete": "", "replace_id": "" }, "HP:0004247": { "name": [ "small scaphoid", "small scaphoid" ], "alt_id": [], "def": "Underdevelopment of the scaphoid.", "synonym": [], "xref": [ "UMLS:C4025394" ], "is_a": [ "HP:0001498", "HP:0004243" ], "is_obsolete": "", "replace_id": "" }, "HP:0004248": { "name": [ "abnormality of the lunate bone", "abnormality of the lunate bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025393" ], "is_a": [ "HP:0001191" ], "is_obsolete": "", "replace_id": "" }, "HP:0004249": { "name": [ "accessory lunate", "accessory lunate" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025392" ], "is_a": [ "HP:0004232", "HP:0004248" ], "is_obsolete": "", "replace_id": "" }, "HP:0004250": { "name": [ "proximally placed lunate", "proximally place lunate" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025391" ], "is_a": [ "HP:0004239", "HP:0004248" ], "is_obsolete": "", "replace_id": "" }, "HP:0004251": { "name": [ "lunate - triquetral fusion", "lunate - triquetral fusion" ], "alt_id": [], "def": "Osseous fusion of the lunate and triquetrum.", "synonym": [ [ "lunotriquetral synostosis", "lunotriquetral synostosis" ] ], "xref": [ "UMLS:C1867930" ], "is_a": [ "HP:0004248" ], "is_obsolete": "", "replace_id": "" }, "HP:0004252": { "name": [ "abnormality of the trapezium", "abnormality of the trapezium" ], "alt_id": [], "def": "An anomaly of trapezium.", "synonym": [], "xref": [ "UMLS:C4025390" ], "is_a": [ "HP:0001191" ], "is_obsolete": "", "replace_id": "" }, "HP:0004253": { "name": [ "absent trapezium", "absent trapezium" ], "alt_id": [], "def": "", "synonym": [ [ "absent trapezium bone", "absent trapezium bone" ] ], "xref": [ "UMLS:C1847190" ], "is_a": [ "HP:0004252", "HP:0006257" ], "is_obsolete": "", "replace_id": "" }, "HP:0004254": { "name": [ "delayed ossification of the trapezium", "delay ossification of the trapezium" ], "alt_id": [], "def": "Formation of bone tissue of trapezium is less than expected for age.", "synonym": [ [ "delayed maturation of the trapezium", "delay maturation of the trapezium" ] ], "xref": [ "UMLS:C4021669" ], "is_a": [ "HP:0001216", "HP:0045001" ], "is_obsolete": "", "replace_id": "" }, "HP:0004255": { "name": [ "small trapezium", "small trapezium" ], "alt_id": [], "def": "Underdevelopment of the trapezium.", "synonym": [], "xref": [ "UMLS:C4025389" ], "is_a": [ "HP:0001498", "HP:0004252" ], "is_obsolete": "", "replace_id": "" }, "HP:0004256": { "name": [ "abnormality of the trapezoid bone", "abnormality of the trapezoid bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025388" ], "is_a": [ "HP:0001191" ], "is_obsolete": "", "replace_id": "" }, "HP:0004257": { "name": [ "delayed ossification of the trapezoid bone", "delay ossification of the trapezoid bone" ], "alt_id": [], "def": "Formation of bone tissue of trapezoid is less than expected for age.", "synonym": [ [ "delayed maturation of the trapezoid bone", "delay maturation of the trapezoid bone" ] ], "xref": [ "UMLS:C4021668" ], "is_a": [ "HP:0001216", "HP:0045004" ], "is_obsolete": "", "replace_id": "" }, "HP:0004258": { "name": [ "small trapezoid bone", "small trapezoid bone" ], "alt_id": [], "def": "Underdevelopment of the trapezoid.", "synonym": [], "xref": [ "UMLS:C4025387" ], "is_a": [ "HP:0001498", "HP:0004256" ], "is_obsolete": "", "replace_id": "" }, "HP:0004259": { "name": [ "abnormality of the hamate bone", "abnormality of the hamate bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025386" ], "is_a": [ "HP:0001191" ], "is_obsolete": "", "replace_id": "" }, "HP:0004260": { "name": [ "large hamate bone", "large hamate bone" ], "alt_id": [], "def": "", "synonym": [ [ "large unciform bone", "large unciform bone" ] ], "xref": [ "UMLS:C4025385" ], "is_a": [ "HP:0004237", "HP:0004259" ], "is_obsolete": "", "replace_id": "" }, "HP:0004261": { "name": [ "wide hamate bone", "wide hamate bone" ], "alt_id": [], "def": "", "synonym": [ [ "broad hamate bone", "broad hamate bone" ], [ "wide unciform bone", "wide unciform bone" ] ], "xref": [ "UMLS:C4021667" ], "is_a": [ "HP:0004242", "HP:0004260" ], "is_obsolete": "", "replace_id": "" }, "HP:0004262": { "name": [ "abnormality of the capitate bone", "abnormality of the capitate bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025384" ], "is_a": [ "HP:0001191" ], "is_obsolete": "", "replace_id": "" }, "HP:0004263": { "name": [ "large capitate bone", "large capitate bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025383" ], "is_a": [ "HP:0004237", "HP:0004262" ], "is_obsolete": "", "replace_id": "" }, "HP:0004264": { "name": [ "narrow carpal joint spaces", "narrow carpal joint space" ], "alt_id": [ "HP:0004265" ], "def": "", "synonym": [ [ "decreased carpal joint angles", "decrease carpal joint angle" ] ], "xref": [ "UMLS:C4021666" ], "is_a": [ "HP:0001191" ], "is_obsolete": "", "replace_id": "" }, "HP:0004267": { "name": [ "narrow small joints of the hand", "narrow small joint of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "narrow small joints of the hand", "narrow small joint of the hand" ] ], "xref": [ "UMLS:C4025382" ], "is_a": [ "HP:0006261" ], "is_obsolete": "", "replace_id": "" }, "HP:0004268": { "name": [ "osteoarthritis of the small joints of the hand", "osteoarthritis of the small joint of the hand" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025381" ], "is_a": [ "HP:0002758", "HP:0006261" ], "is_obsolete": "", "replace_id": "" }, "HP:0004269": { "name": [ "subluxation of the small joints of the hand", "subluxation of the small joint of the hand" ], "alt_id": [], "def": "A partial dislocation of some or all of the small joints of the hand.", "synonym": [ [ "partial dislocation of small joints of hand", "partial dislocation of small joint of hand" ] ], "xref": [ "UMLS:C4025380" ], "is_a": [ "HP:0006261", "HP:0032153" ], "is_obsolete": "", "replace_id": "" }, "HP:0004271": { "name": [ "cortical thickening of hand bones", "cortical thickening of hand bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025379" ], "is_a": [ "HP:0005926", "HP:0100039" ], "is_obsolete": "", "replace_id": "" }, "HP:0004272": { "name": [ "cortical thinning of hand bones", "cortical thinning of hand bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025378" ], "is_a": [ "HP:0002753", "HP:0005926" ], "is_obsolete": "", "replace_id": "" }, "HP:0004273": { "name": [ "cupped metaphyses of hand bones", "cupped metaphyses of hand bone" ], "alt_id": [], "def": "", "synonym": [ [ "cupped metaphysis of hand bones", "cupped metaphysis of hand bone" ], [ "cupped wide portion of hand bones", "cup wide portion of hand bone" ] ], "xref": [ "UMLS:C4025377" ], "is_a": [ "HP:0005923" ], "is_obsolete": "", "replace_id": "" }, "HP:0004274": { "name": [ "deficient ossification of hand bones", "deficient ossification of hand bone" ], "alt_id": [], "def": "", "synonym": [ [ "deficient maturation of hand bones", "deficient maturation of hand bone" ] ], "xref": [ "UMLS:C4025376", "UMLS:C4280534" ], "is_a": [ "HP:0010660" ], "is_obsolete": "", "replace_id": "" }, "HP:0004275": { "name": [ "duplication of hand bones", "duplication of hand bone" ], "alt_id": [], "def": "", "synonym": [ [ "duplication of hand bones", "duplication of hand bone" ] ], "xref": [ "UMLS:C3276746" ], "is_a": [ "HP:0001155", "HP:0009142" ], "is_obsolete": "", "replace_id": "" }, "HP:0004276": { "name": [ "exostoses of hand bones", "exostosis of hand bone" ], "alt_id": [], "def": "Abnormal formation of new bone on the surface of a bone of the hand.", "synonym": [], "xref": [ "UMLS:C4025375" ], "is_a": [ "HP:0001155", "HP:0100777" ], "is_obsolete": "", "replace_id": "" }, "HP:0004277": { "name": [ "fractured hand bones", "fractured hand bone" ], "alt_id": [], "def": "", "synonym": [ [ "broken hand bones", "broken hand bone" ], [ "fractured hand bones", "fractured hand bone" ] ], "xref": [ "SNOMEDCT_US:20511007", "UMLS:C0435632" ], "is_a": [ "HP:0001155", "HP:0020110" ], "is_obsolete": "", "replace_id": "" }, "HP:0004278": { "name": [ "synostosis involving bones of the hand", "synostosis involve bone of the hand" ], "alt_id": [], "def": "An abnormal union between bones or parts of bones of the hand.", "synonym": [ [ "fused hand bones", "fused hand bone" ] ], "xref": [ "UMLS:C4020831" ], "is_a": [ "HP:0001155", "HP:0100238" ], "is_obsolete": "", "replace_id": "" }, "HP:0004279": { "name": [ "short palm", "short palm" ], "alt_id": [ "HP:0001165" ], "def": "Short palm.", "synonym": [ [ "hypoplastic hands", "hypoplastic hand" ], [ "short hands", "short hand" ], [ "short palm", "short palm" ], [ "short palms", "short palm" ] ], "xref": [ "UMLS:C1843108" ], "is_a": [ "HP:0005927", "HP:0100871" ], "is_obsolete": "", "replace_id": "" }, "HP:0004280": { "name": [ "irregular ossification of hand bones", "irregular ossification of hand bone" ], "alt_id": [], "def": "", "synonym": [ [ "irregular maturation of hand bones", "irregular maturation of hand bone" ] ], "xref": [ "UMLS:C4025374" ], "is_a": [ "HP:0010660" ], "is_obsolete": "", "replace_id": "" }, "HP:0004281": { "name": [ "irregular sclerosis of hand bones", "irregular sclerosis of hand bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025373" ], "is_a": [ "HP:0004054" ], "is_obsolete": "", "replace_id": "" }, "HP:0004283": { "name": [ "narrow palm", "narrow palm" ], "alt_id": [], "def": "For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.", "synonym": [ [ "narrow hand", "narrow hand" ], [ "narrow hands", "narrow hand" ], [ "narrow palm", "narrow palm" ] ], "xref": [ "UMLS:C1857632" ], "is_a": [ "HP:0100871" ], "is_obsolete": "", "replace_id": "" }, "HP:0004284": { "name": [ "notched hand bones", "notched hand bone" ], "alt_id": [], "def": "", "synonym": [ [ "notched hand bones", "notched hand bone" ] ], "xref": [ "UMLS:C4025372" ], "is_a": [ "HP:0005922" ], "is_obsolete": "", "replace_id": "" }, "HP:0004285": { "name": [ "overmodelled hand bones", "overmodelled hand bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025371" ], "is_a": [ "HP:0005922" ], "is_obsolete": "", "replace_id": "" }, "HP:0004286": { "name": [ "patchy sclerosis of hand bones", "patchy sclerosis of hand bone" ], "alt_id": [], "def": "", "synonym": [ [ "uneven increase in bone density in hand bones", "uneven increase in bone density in hand bone" ] ], "xref": [ "UMLS:C4025370" ], "is_a": [ "HP:0004281" ], "is_obsolete": "", "replace_id": "" }, "HP:0004287": { "name": [ "pointed hand bones", "point hand bone" ], "alt_id": [], "def": "", "synonym": [ [ "pointed hand bones", "point hand bone" ] ], "xref": [ "UMLS:C4025369" ], "is_a": [ "HP:0005922" ], "is_obsolete": "", "replace_id": "" }, "HP:0004288": { "name": [ "pseudoepiphyses of hand bones", "pseudoepiphyses of hand bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025368" ], "is_a": [ "HP:0005924", "HP:0010584" ], "is_obsolete": "", "replace_id": "" }, "HP:0004289": { "name": [ "sclerotic foci in hand bones", "sclerotic focus in hand bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025367" ], "is_a": [ "HP:0004281" ], "is_obsolete": "", "replace_id": "" }, "HP:0004290": { "name": [ "sclerosis of hand bones with transverse striations", "sclerosis of hand bone with transverse striation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025366" ], "is_a": [ "HP:0004281" ], "is_obsolete": "", "replace_id": "" }, "HP:0004291": { "name": [ "stippled calcification of hand bones", "stipple calcification of hand bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025365" ], "is_a": [ "HP:0004280" ], "is_obsolete": "", "replace_id": "" }, "HP:0004292": { "name": [ "undermodelled hand bones", "undermodelled hand bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025364" ], "is_a": [ "HP:0005922" ], "is_obsolete": "", "replace_id": "" }, "HP:0004293": { "name": [ "synostosis of second metacarpal - trapezoid", "synostosis of second metacarpal - trapezoid" ], "alt_id": [], "def": "Fusion of the second metacarpal-trapezoid.", "synonym": [ [ "fusion of second metacarpal - trapezoid", "fusion of second metacarpal - trapezoid" ] ], "xref": [ "UMLS:C4021665" ], "is_a": [ "HP:0009705", "HP:0100328" ], "is_obsolete": "", "replace_id": "" }, "HP:0004294": { "name": [ "subluxation of metacarpal phalangeal joints", "subluxation of metacarpal phalangeal joint" ], "alt_id": [], "def": "A partial dislocation affecting some or all of the metacarpophalangeal joints.", "synonym": [ [ "partial knuckle dislocation", "partial knuckle dislocation" ], [ "subluxation of metacarpophalangeal joints", "subluxation of metacarpophalangeal joint" ] ], "xref": [ "UMLS:C4025363" ], "is_a": [ "HP:0011911", "HP:0032153" ], "is_obsolete": "", "replace_id": "" }, "HP:0004295": { "name": [ "abnormality of the gastric mucosa", "abnormality of the gastric mucosa" ], "alt_id": [], "def": "An abnormality of the gastric mucous membrane.", "synonym": [ [ "abnormality of the mucous membrane layer of stomach", "abnormality of the mucous membrane layer of stomach" ] ], "xref": [ "UMLS:C4025362" ], "is_a": [ "HP:0002577" ], "is_obsolete": "", "replace_id": "" }, "HP:0004296": { "name": [ "abnormality of gastrointestinal vasculature", "abnormality of gastrointestinal vasculature" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of gi blood vessels", "abnormality of gi blood vessel" ], [ "abnormality of gi vasculature", "abnormality of gi vasculature" ] ], "xref": [ "UMLS:C4025361" ], "is_a": [ "HP:0002597", "HP:0012718" ], "is_obsolete": "", "replace_id": "" }, "HP:0004297": { "name": [ "abnormality of the biliary system", "abnormality of the biliary system" ], "alt_id": [], "def": "An abnormality of the biliary system.", "synonym": [], "xref": [ "UMLS:C0940767" ], "is_a": [ "HP:0001392" ], "is_obsolete": "", "replace_id": "" }, "HP:0004298": { "name": [ "abnormality of the abdominal wall", "abnormality of the abdominal wall" ], "alt_id": [ "HP:0001462" ], "def": "The presence of any abnormality affecting the abdominal wall.", "synonym": [ [ "abnormality of external features of the abdomen", "abnormality of external feature of the abdomen" ], [ "abnormality of the abdominal wall", "abnormality of the abdominal wall" ] ], "xref": [ "UMLS:C4021664" ], "is_a": [ "HP:0025031" ], "is_obsolete": "", "replace_id": "" }, "HP:0004299": { "name": [ "hernia of the abdominal wall", "hernia of the abdominal wall" ], "alt_id": [], "def": "The presence of a hernia in the abdominal wall.", "synonym": [ [ "herniated abdominal wall", "herniated abdominal wall" ] ], "xref": [ "Fyler:4414", "SNOMEDCT_US:128545000", "UMLS:C1442978" ], "is_a": [ "HP:0010866", "HP:0100790" ], "is_obsolete": "", "replace_id": "" }, "HP:0004302": { "name": [ "functional motor deficit", "functional motor deficit" ], "alt_id": [], "def": "", "synonym": [ [ "functional motor problems", "functional motor problem" ] ], "xref": [ "UMLS:C4025360" ], "is_a": [ "HP:0011804" ], "is_obsolete": "", "replace_id": "" }, "HP:0004303": { "name": [ "abnormal muscle fiber morphology", "abnormal muscle fiber morphology" ], "alt_id": [ "HP:0003706", "HP:0011806" ], "def": "Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.", "synonym": [ [ "abnormal muscle fibre morphology", "abnormal muscle fibre morphology" ], [ "abnormal skeletal muscle fiber morphology", "abnormal skeletal muscle fiber morphology" ], [ "abnormal skeletal muscle fibre morphology", "abnormal skeletal muscle fibre morphology" ], [ "abnormality of muscle fibers", "abnormality of muscle fiber" ], [ "abnormality of muscle fibres", "abnormality of muscle fibre" ] ], "xref": [ "UMLS:C4021663" ], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0004305": { "name": [ "involuntary movements", "involuntary movement" ], "alt_id": [ "HP:0007120" ], "def": "Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.", "synonym": [ [ "involuntary movements", "involuntary movement" ], [ "involuntary muscle contractions", "involuntary muscle contraction" ] ], "xref": [ "SNOMEDCT_US:102542000", "UMLS:C0235086" ], "is_a": [ "HP:0011442", "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0004306": { "name": [ "abnormal endocardium morphology", "abnormal endocardium morphology" ], "alt_id": [ "HP:0005260" ], "def": "An abnormality of the endocardium.", "synonym": [ [ "abnormality of the endocardium", "abnormality of the endocardium" ], [ "abnormality of the endomycoardium", "abnormality of the endomycoardium" ] ], "xref": [ "UMLS:C4021662" ], "is_a": [ "HP:0001627" ], "is_obsolete": "", "replace_id": "" }, "HP:0004307": { "name": [ "abnormal anatomic location of the heart", "abnormal anatomic location of the heart" ], "alt_id": [], "def": "Developmental defect characterized by an anomalous anatomic location of the heart.", "synonym": [], "xref": [ "UMLS:C4025359" ], "is_a": [ "HP:0001627" ], "is_obsolete": "", "replace_id": "" }, "HP:0004308": { "name": [ "ventricular arrhythmia", "ventricular arrhythmia" ], "alt_id": [], "def": "", "synonym": [ [ "ventricular arrhythmias", "ventricular arrhythmia" ] ], "xref": [ "SNOMEDCT_US:44103008", "UMLS:C0085612" ], "is_a": [ "HP:0011675" ], "is_obsolete": "", "replace_id": "" }, "HP:0004309": { "name": [ "ventricular preexcitation", "ventricular preexcitation" ], "alt_id": [ "HP:0006676" ], "def": "An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.", "synonym": [ [ "pre - excitation syndrome", "pre - excitation syndrome" ], [ "preexcitation", "preexcitation" ], [ "ventricular pre - excitation", "ventricular pre - excitation" ] ], "xref": [ "SNOMEDCT_US:195060002", "UMLS:C0559106" ], "is_a": [ "HP:0004308" ], "is_obsolete": "", "replace_id": "" }, "HP:0004311": { "name": [ "abnormal macrophage morphology", "abnormal macrophage morphology" ], "alt_id": [ "HP:0004310" ], "def": "An abnormality of macrophages.", "synonym": [ [ "abnormality of histiocytes", "abnormality of histiocyte" ], [ "abnormality of macrophages", "abnormality of macrophage" ] ], "xref": [ "UMLS:C4021661" ], "is_a": [ "HP:0010974" ], "is_obsolete": "", "replace_id": "" }, "HP:0004312": { "name": [ "abnormal reticulocyte morphology", "abnormal reticulocyte morphology" ], "alt_id": [], "def": "A reticulocyte abnormality.", "synonym": [ [ "abnormality of reticulocytes", "abnormality of reticulocyte" ] ], "xref": [ "UMLS:C4025358" ], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0004313": { "name": [ "decreased circulating antibody level", "decrease circulate antibody level" ], "alt_id": [ "HP:0010703" ], "def": "An abnormally decreased level of immunoglobulin in blood.", "synonym": [ [ "decreased antibody level in blood", "decrease antibody level in blood" ], [ "decreased immunoglobulin level", "decrease immunoglobulin level" ], [ "decreased serum immunoglobulin", "decrease serum immunoglobulin" ], [ "hypogammaglobulinemia", "hypogammaglobulinemia" ], [ "immunoglobulin deficiency", "immunoglobulin deficiency" ], [ "reduced immunoglobulin levels", "reduce immunoglobulin level" ] ], "xref": [ "MSH:D000361", "SNOMEDCT_US:119250001", "UMLS:C0086438", "UMLS:C4048270" ], "is_a": [ "HP:0010701" ], "is_obsolete": "", "replace_id": "" }, "HP:0004315": { "name": [ "decreased circulating igg level", "decrease circulate igg level" ], "alt_id": [ "HP:0003289", "HP:0003294", "HP:0005394", "HP:0008325", "HP:0008340" ], "def": "An abnormally decreased level of immunoglobulin G (IgG) in blood.", "synonym": [ [ "decreased gamma - globin expression", "decrease gamma - globin expression" ], [ "decreased igg level", "decrease igg level" ], [ "decreased igg level in blood", "decrease igg level in blood" ], [ "decreased immunoglobulin g", "decrease immunoglobulin g" ], [ "decreased serum igg", "decrease serum igg" ], [ "igg deficiency", "igg deficiency" ], [ "reduced igg levels", "reduce igg level" ] ], "xref": [ "MSH:D017099", "SNOMEDCT_US:123785006", "SNOMEDCT_US:190981001", "UMLS:C0162539" ], "is_a": [ "HP:0004313", "HP:0410242" ], "is_obsolete": "", "replace_id": "" }, "HP:0004319": { "name": [ "decreased circulating aldosterone level", "decrease circulate aldosterone level" ], "alt_id": [ "HP:0000355", "HP:0002924", "HP:0008184", "HP:0008190" ], "def": "Abnormally reduced levels of aldosterone.", "synonym": [ [ "decreased aldosterone", "decrease aldosterone" ], [ "decreased aldosterone production", "decrease aldosterone production" ], [ "decreased serum aldosterone", "decrease serum aldosterone" ], [ "hypoaldosteronism", "hypoaldosteronism" ], [ "low blood aldosterone level", "low blood aldosterone level" ], [ "mineralocorticoid insufficiency", "mineralocorticoid insufficiency" ] ], "xref": [ "MSH:D006994", "SNOMEDCT_US:60086000", "UMLS:C0020595", "UMLS:C0857899", "UMLS:C1846226" ], "is_a": [ "HP:0008207" ], "is_obsolete": "", "replace_id": "" }, "HP:0004320": { "name": [ "vaginal fistula", "vaginal fistula" ], "alt_id": [], "def": "The presence of a fistula of the vagina.", "synonym": [], "xref": [ "MSH:D014624", "SNOMEDCT_US:45135002", "UMLS:C0042253" ], "is_a": [ "HP:0000142", "HP:0100589" ], "is_obsolete": "", "replace_id": "" }, "HP:0004321": { "name": [ "bladder fistula", "bladder fistula" ], "alt_id": [], "def": "The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.", "synonym": [], "xref": [ "MSH:D001747", "SNOMEDCT_US:68666001", "UMLS:C0005690" ], "is_a": [ "HP:0025487", "HP:0100589" ], "is_obsolete": "", "replace_id": "" }, "HP:0004322": { "name": [ "short stature", "short stature" ], "alt_id": [ "HP:0001509", "HP:0003501", "HP:0003507", "HP:0003512", "HP:0003518", "HP:0003519", "HP:0008871", "HP:0008882", "HP:0008888", "HP:0008913" ], "def": "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\", "synonym": [ [ "decreased body height", "decrease body height" ], [ "height less than 3rd percentile", "height less than 3rd percentile" ], [ "short stature", "short stature" ], [ "small stature", "small stature" ], [ "stature below 3rd percentile", "stature below 3rd percentile" ] ], "xref": [ "SNOMEDCT_US:237836003", "UMLS:C0349588" ], "is_a": [ "HP:0000002", "HP:0001510" ], "is_obsolete": "", "replace_id": "" }, "HP:0004323": { "name": [ "abnormality of body weight", "abnormality of body weight" ], "alt_id": [ "HP:0010718" ], "def": "An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.", "synonym": [ [ "abnormality of body weight", "abnormality of body weight" ], [ "abnormality of habitus", "abnormality of habitus" ] ], "xref": [ "UMLS:C0878621", "UMLS:C4025357" ], "is_a": [ "HP:0001507" ], "is_obsolete": "", "replace_id": "" }, "HP:0004324": { "name": [ "increased body weight", "increase body weight" ], "alt_id": [ "HP:0045083" ], "def": "Abnormally increased body weight.", "synonym": [ [ "increased body weight", "increase body weight" ], [ "weight gain", "weight gain" ] ], "xref": [ "MSH:D015430", "SNOMEDCT_US:161831008", "SNOMEDCT_US:262286000", "SNOMEDCT_US:8943002", "UMLS:C0043094" ], "is_a": [ "HP:0004323" ], "is_obsolete": "", "replace_id": "" }, "HP:0004325": { "name": [ "decreased body weight", "decrease body weight" ], "alt_id": [ "HP:0001823", "HP:0001826" ], "def": "Abnormally low body weight.", "synonym": [ [ "decreased body weight", "decrease body weight" ], [ "decreased weight", "decrease weight" ], [ "low body weight", "low body weight" ], [ "low weight", "low weight" ], [ "weight less than 3rd percentile", "weight less than 3rd percentile" ] ], "xref": [ "MSH:D013851", "MSH:D015431", "SNOMEDCT_US:161832001", "SNOMEDCT_US:248342006", "SNOMEDCT_US:262285001", "SNOMEDCT_US:89362005", "UMLS:C0041667", "UMLS:C1262477", "UMLS:C1844806" ], "is_a": [ "HP:0004323" ], "is_obsolete": "", "replace_id": "" }, "HP:0004326": { "name": [ "cachexia", "cachexia" ], "alt_id": [], "def": "Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.", "synonym": [ [ "wasting syndrome", "waste syndrome" ] ], "xref": [ "MSH:D002100", "SNOMEDCT_US:238108007", "SNOMEDCT_US:285384003", "UMLS:C0006625" ], "is_a": [ "HP:0001824" ], "is_obsolete": "", "replace_id": "" }, "HP:0004327": { "name": [ "abnormal vitreous humor morphology", "abnormal vitreous humor morphology" ], "alt_id": [], "def": "Any structural anomaly of the vitreous body.", "synonym": [ [ "abnormal vitreous humour morphology", "abnormal vitreous humour morphology" ] ], "xref": [ "UMLS:C4025356" ], "is_a": [ "HP:0004329" ], "is_obsolete": "", "replace_id": "" }, "HP:0004328": { "name": [ "abnormal anterior eye segment morphology", "abnormal anterior eye segment morphology" ], "alt_id": [], "def": "An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).", "synonym": [ [ "abnormal anterior segment morphology", "abnormal anterior segment morphology" ], [ "abnormality of the anterior segment of the eye", "abnormality of the anterior segment of the eye" ], [ "abnormality of the anterior segment of the eyeball", "abnormality of the anterior segment of the eyeball" ], [ "abnormality of the anterior segment of the globe", "abnormality of the anterior segment of the globe" ] ], "xref": [ "UMLS:C4025355" ], "is_a": [ "HP:0012372" ], "is_obsolete": "", "replace_id": "" }, "HP:0004329": { "name": [ "abnormal posterior eye segment morphology", "abnormal posterior eye segment morphology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal morphology of the posterior segment of the globe", "abnormal morphology of the posterior segment of the globe" ], [ "abnormality of the posterior segment of the eye", "abnormality of the posterior segment of the eye" ], [ "abnormality of the posterior segment of the eyeball", "abnormality of the posterior segment of the eyeball" ], [ "abnormality of the posterior segment of the globe", "abnormality of the posterior segment of the globe" ] ], "xref": [ "UMLS:C4025354" ], "is_a": [ "HP:0012372" ], "is_obsolete": "", "replace_id": "" }, "HP:0004330": { "name": [ "increased skull ossification", "increase skull ossification" ], "alt_id": [], "def": "An increase in the magnitude or amount of ossification of the skull.", "synonym": [ [ "hyperossification of skull", "hyperossification of skull" ], [ "hyperostosis of skull", "hyperostosis of skull" ], [ "increased calcification of skull", "increase calcification of skull" ], [ "increased mineralization of skull", "increase mineralization of skull" ], [ "sclerosis of bones of skull", "sclerosis of bone of skull" ], [ "sclerosis of skull", "sclerosis of skull" ] ], "xref": [ "SNOMEDCT_US:17401000119104", "UMLS:C0020496", "UMLS:C4072850", "UMLS:C4072851" ], "is_a": [ "HP:0002703", "HP:0011001" ], "is_obsolete": "", "replace_id": "" }, "HP:0004331": { "name": [ "decreased skull ossification", "decrease skull ossification" ], "alt_id": [ "HP:0003780" ], "def": "A reduction in the magnitude or amount of ossification of the skull.", "synonym": [ [ "decreased bone formation of skull", "decrease bone formation of skull" ], [ "decreased calcification of skull", "decreased calcification of skull" ], [ "decreased mineralization of skull", "decreased mineralization of skull" ], [ "deficient skull ossification", "deficient skull ossification" ], [ "hypoossification of skull", "hypoossification of skull" ], [ "ossification defect of skull", "ossification defect of skull" ], [ "poorly mineralized skull", "poorly mineralize skull" ], [ "poorly ossified skull", "poorly ossify skull" ], [ "poorly ossified skull bones", "poorly ossify skull bone" ] ], "xref": [ "SNOMEDCT_US:253980008", "UMLS:C0432073", "UMLS:C4280533" ], "is_a": [ "HP:0002703", "HP:0011849" ], "is_obsolete": "", "replace_id": "" }, "HP:0004332": { "name": [ "abnormal lymphocyte morphology", "abnormal lymphocyte morphology" ], "alt_id": [ "HP:0001887", "HP:0012140" ], "def": "An abnormality of lymphocytes.", "synonym": [ [ "abnormal lymphocytes", "abnormal lymphocyte" ], [ "abnormality of cells of the lymphoid lineage", "abnormality of cell of the lymphoid lineage" ] ], "xref": [ "SNOMEDCT_US:250284007", "UMLS:C0427546" ], "is_a": [ "HP:0001881" ], "is_obsolete": "", "replace_id": "" }, "HP:0004333": { "name": [ "bone - marrow foam cells", "bone - marrow foam cell" ], "alt_id": [ "HP:0001979" ], "def": "The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.", "synonym": [ [ "bone marrow foam cells", "bone marrow foam cell" ], [ "large vacuolated foam cells ( 'np cells ' ) on bone marrow biopsy", "large vacuolated foam cell ( 'np cell ' ) on bone marrow biopsy" ], [ "large vacuolated foam cells on bone marrow biopsy", "large vacuolated foam cell on bone marrow biopsy" ] ], "xref": [ "UMLS:C1856560" ], "is_a": [ "HP:0003651", "HP:0004311" ], "is_obsolete": "", "replace_id": "" }, "HP:0004334": { "name": [ "dermal atrophy", "dermal atrophy" ], "alt_id": [ "HP:0000985", "HP:0001077" ], "def": "Partial or complete wasting (atrophy) of the skin.", "synonym": [ [ "atrophic skin", "atrophic skin" ], [ "skin atrophy", "skin atrophy" ], [ "skin degeneration", "skin degeneration" ] ], "xref": [ "MEDDRA:10040799 \"Skin atrophy\"", "SNOMEDCT_US:399979006", "SNOMEDCT_US:400190005", "UMLS:C0151514" ], "is_a": [ "HP:0008065" ], "is_obsolete": "", "replace_id": "" }, "HP:0004336": { "name": [ "myelin outfoldings", "myelin outfoldings" ], "alt_id": [ "HP:0003433", "HP:0006898", "HP:0007290" ], "def": "The presence of excessive redundant myelin in the peripheral nerve sheath.", "synonym": [ [ "excessive focal folding of myelin sheaths", "excessive focal folding of myelin sheath" ], [ "irregular myelin foldings", "irregular myelin folding" ] ], "xref": [ "UMLS:C1843168" ], "is_a": [ "HP:0030173" ], "is_obsolete": "", "replace_id": "" }, "HP:0004337": { "name": [ "abnormality of amino acid metabolism", "abnormality of amino acid metabolism" ], "alt_id": [], "def": "Abnormality of an amino acid metabolic process.", "synonym": [ [ "amino acid levels abnormal", "amino acid level abnormal" ] ], "xref": [ "UMLS:C1328440" ], "is_a": [ "HP:0032245" ], "is_obsolete": "", "replace_id": "" }, "HP:0004338": { "name": [ "abnormal circulating aromatic amino acid concentration", "abnormal circulate aromatic amino acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.", "synonym": [ [ "abnormality of aromatic amino acid family metabolism", "abnormality of aromatic amino acid family metabolism" ] ], "xref": [ "UMLS:C4025352" ], "is_a": [ "HP:0033107" ], "is_obsolete": "", "replace_id": "" }, "HP:0004339": { "name": [ "abnormal circulating sulfur amino acid concentration", "abnormal circulate sulfur amino acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.", "synonym": [ [ "abnormal circulating sulphur amino acid concentration", "abnormal circulate sulphur amino acid concentration" ], [ "abnormality of sulfur - containing amino acids", "abnormality of sulfur - contain amino acid" ] ], "xref": [ "UMLS:C4021660" ], "is_a": [ "HP:0033107" ], "is_obsolete": "", "replace_id": "" }, "HP:0004340": { "name": [ "abnormality of vitamin b metabolism", "abnormality of vitamin b metabolism" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of b - vitamin metabolism", "abnormality of b - vitamin metabolism" ] ], "xref": [ "UMLS:C4021659" ], "is_a": [ "HP:0100508" ], "is_obsolete": "", "replace_id": "" }, "HP:0004341": { "name": [ "abnormality of vitamin b12 metabolism", "abnormality of vitamin b12 metabolism" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the vitamin b12 metabolism", "abnormality of the vitamin b12 metabolism" ] ], "xref": [ "UMLS:C4021658" ], "is_a": [ "HP:0004340" ], "is_obsolete": "", "replace_id": "" }, "HP:0004342": { "name": [ "abnormality of galactoside metabolism", "abnormality of galactoside metabolism" ], "alt_id": [], "def": "Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose.", "synonym": [], "xref": [ "UMLS:C4025351" ], "is_a": [ "HP:0003649" ], "is_obsolete": "", "replace_id": "" }, "HP:0004343": { "name": [ "abnormal glycosphingolipid metabolism", "abnormal glycosphingolipid metabolism" ], "alt_id": [], "def": "An abnormality of glycosphingolipid metabolism.", "synonym": [ [ "abnormality of glycosphingolipid metabolism", "abnormality of glycosphingolipid metabolism" ] ], "xref": [ "UMLS:C4025350" ], "is_a": [ "HP:0010969" ], "is_obsolete": "", "replace_id": "" }, "HP:0004344": { "name": [ "abnormality of cerebrosidase metabolism", "abnormality of cerebrosidase metabolism" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025349" ], "is_a": [ "HP:0004343" ], "is_obsolete": "", "replace_id": "" }, "HP:0004345": { "name": [ "ganglioside accumulation", "ganglioside accumulation" ], "alt_id": [], "def": "Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease).", "synonym": [], "xref": [ "UMLS:C4025348" ], "is_a": [ "HP:0004343" ], "is_obsolete": "", "replace_id": "" }, "HP:0004347": { "name": [ "weakness of muscles of respiration", "weakness of muscle of respiration" ], "alt_id": [], "def": "Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.", "synonym": [], "xref": [ "UMLS:C4025347" ], "is_a": [ "HP:0001324", "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0004348": { "name": [ "abnormality of bone mineral density", "abnormality of bone mineral density" ], "alt_id": [], "def": "This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.", "synonym": [ [ "abnormality of bone mineralisation and ossification", "abnormality of bone mineralisation and ossification" ] ], "xref": [ "UMLS:C4021657" ], "is_a": [ "HP:0011849" ], "is_obsolete": "", "replace_id": "" }, "HP:0004349": { "name": [ "reduced bone mineral density", "reduce bone mineral density" ], "alt_id": [], "def": "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.", "synonym": [ [ "decreased bone mineral density", "decrease bone mineral density" ], [ "decreased bone mineral density z score", "decrease bone mineral density z score" ], [ "low solidness and mass of the bones", "low solidness and mass of the bone" ] ], "xref": [ "UMLS:C2674432" ], "is_a": [ "HP:0004348" ], "is_obsolete": "", "replace_id": "" }, "HP:0004352": { "name": [ "abnormal circulating purine concentration", "abnormal circulate purine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a purine in the blood circulation.", "synonym": [ [ "abnormal circulating purine level", "abnormal circulate purine level" ] ], "xref": [ "UMLS:C4025346" ], "is_a": [ "HP:0010932" ], "is_obsolete": "", "replace_id": "" }, "HP:0004353": { "name": [ "abnormal circulating pyrimidine concentration", "abnormal circulate pyrimidine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a pyrimidine in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4025345" ], "is_a": [ "HP:0010932" ], "is_obsolete": "", "replace_id": "" }, "HP:0004354": { "name": [ "abnormal circulating carboxylic acid concentration", "abnormal circulate carboxylic acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a carboxylic acid in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4025344" ], "is_a": [ "HP:0032180" ], "is_obsolete": "", "replace_id": "" }, "HP:0004355": { "name": [ "obsolete abnormality of proteoglycan metabolism", "obsolete abnormality of proteoglycan metabolism" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001939" }, "HP:0004356": { "name": [ "abnormality of lysosomal metabolism", "abnormality of lysosomal metabolism" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025342" ], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:0004357": { "name": [ "abnormal circulating leucine concentration", "abnormal circulate leucine concentration" ], "alt_id": [], "def": "Any deviation from the normal circulation of leucine in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4025341" ], "is_a": [ "HP:0010892" ], "is_obsolete": "", "replace_id": "" }, "HP:0004358": { "name": [ "abnormality of superoxide metabolism", "abnormality of superoxide metabolism" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025340" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0004359": { "name": [ "abnormal circulating fatty - acid concentration", "abnormal circulate fatty - acid concentration" ], "alt_id": [], "def": "A deviation from the normal concentration of a fatty acid in the blood circulation.", "synonym": [ [ "abnormality of fatty acid metabolism", "abnormality of fatty acid metabolism" ], [ "fatty acids abnormal", "fatty acid abnormal" ] ], "xref": [ "UMLS:C4020830", "UMLS:C4021656" ], "is_a": [ "HP:0003119" ], "is_obsolete": "", "replace_id": "" }, "HP:0004360": { "name": [ "abnormality of acid - base homeostasis", "abnormality of acid - base homeostasis" ], "alt_id": [], "def": "An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.", "synonym": [ [ "acid base imbalance", "acid base imbalance" ] ], "xref": [ "MSH:D000137", "UMLS:C0001118" ], "is_a": [ "HP:0012337" ], "is_obsolete": "", "replace_id": "" }, "HP:0004361": { "name": [ "abnormality of circulating leptin level", "abnormality of circulate leptin level" ], "alt_id": [], "def": "An abnormal concentration of leptin in the blood.", "synonym": [], "xref": [ "UMLS:C4025339" ], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0004362": { "name": [ "abnormality of enteric ganglion morphology", "abnormality of enteric ganglion morphology" ], "alt_id": [ "HP:0002596", "HP:0003283" ], "def": "An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.", "synonym": [ [ "abnormality of the enteric ganglia", "abnormality of the enteric ganglion" ] ], "xref": [ "UMLS:C4025338" ], "is_a": [ "HP:0025028" ], "is_obsolete": "", "replace_id": "" }, "HP:0004363": { "name": [ "abnormal circulating calcium concentration", "abnormal circulate calcium concentration" ], "alt_id": [ "HP:0040077" ], "def": "Any deviation from the normal concentration of calcium in the blood circulation.", "synonym": [ [ "abnormal blood calcium concentration", "abnormal blood calcium concentration" ], [ "abnormal blood calcium levels", "abnormal blood calcium level" ], [ "abnormal circulating ca concentration", "abnormal circulate ca concentration" ], [ "abnormal circulating ca2+ concentration", "abnormal circulate ca2+ concentration" ] ], "xref": [], "is_a": [ "HP:0010927" ], "is_obsolete": "", "replace_id": "" }, "HP:0004364": { "name": [ "abnormal circulating nitrogen compound concentration", "abnormal circulate nitrogen compound concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a nitrogen compound in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4025336" ], "is_a": [ "HP:0032180" ], "is_obsolete": "", "replace_id": "" }, "HP:0004365": { "name": [ "abnormal circulating tryptophan concentration", "abnormal circulate tryptophan concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of tryptophan in the blood circulation.", "synonym": [ [ "abnormality of tryptophan metabolism", "abnormality of tryptophan metabolism" ] ], "xref": [ "UMLS:C4025335" ], "is_a": [ "HP:0004338" ], "is_obsolete": "", "replace_id": "" }, "HP:0004366": { "name": [ "abnormality of glycolysis", "abnormality of glycolysis" ], "alt_id": [], "def": "An abnormality of glycolysis.", "synonym": [], "xref": [ "UMLS:C4025334" ], "is_a": [ "HP:0011013" ], "is_obsolete": "", "replace_id": "" }, "HP:0004367": { "name": [ "obsolete abnormality of glycoprotein metabolism", "obsolete abnormality of glycoprotein metabolism" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001939" }, "HP:0004368": { "name": [ "increased circulating purine concentration", "increase circulate purine concentration" ], "alt_id": [], "def": "Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.", "synonym": [ [ "increased purine level", "increase purine level" ], [ "increased purine levels", "increase purine level" ] ], "xref": [ "UMLS:C4025332" ], "is_a": [ "HP:0004352" ], "is_obsolete": "", "replace_id": "" }, "HP:0004369": { "name": [ "decreased circulating purine concentration", "decrease circulate purine concentration" ], "alt_id": [], "def": "Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.", "synonym": [ [ "decreased purine level", "decrease purine level" ], [ "decreased purine levels", "decrease purine level" ] ], "xref": [ "UMLS:C4025331" ], "is_a": [ "HP:0004352" ], "is_obsolete": "", "replace_id": "" }, "HP:0004370": { "name": [ "abnormality of temperature regulation", "abnormality of temperature regulation" ], "alt_id": [], "def": "An abnormality of temperature homeostasis.", "synonym": [ [ "abnormality of temperature regulation", "abnormality of temperature regulation" ], [ "body temperature changes", "body temperature change" ], [ "poor temperature regulation", "poor temperature regulation" ] ], "xref": [ "MSH:D001832", "UMLS:C0005904", "UMLS:C1832160" ], "is_a": [ "HP:0012337" ], "is_obsolete": "", "replace_id": "" }, "HP:0004371": { "name": [ "abnormality of glycosaminoglycan metabolism", "abnormality of glycosaminoglycan metabolism" ], "alt_id": [], "def": "Abnormality of glycosaminoglycan metabolism.", "synonym": [], "xref": [ "UMLS:C4025330" ], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:0004372": { "name": [ "reduced consciousness / confusion", "reduce consciousness / confusion" ], "alt_id": [], "def": "", "synonym": [ [ "disturbances of consciousness", "disturbance of consciousness" ], [ "lowered consciousness", "lower consciousness" ], [ "reduced consciousness / confusion", "reduce consciousness / confusion" ] ], "xref": [ "SNOMEDCT_US:3006004", "UMLS:C0234428" ], "is_a": [ "HP:0011446" ], "is_obsolete": "", "replace_id": "" }, "HP:0004373": { "name": [ "focal dystonia", "focal dystonia" ], "alt_id": [ "HP:0007140" ], "def": "A type of dystonia that is localized to a specific part of the body.", "synonym": [], "xref": [ "MSH:D020821", "SNOMEDCT_US:445006008", "UMLS:C0743332" ], "is_a": [ "HP:0001332" ], "is_obsolete": "", "replace_id": "" }, "HP:0004374": { "name": [ "hemiplegia / hemiparesis", "hemiplegia / hemiparesis" ], "alt_id": [], "def": "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.", "synonym": [ [ "paralysis or weakness of one side of body", "paralysis or weakness of one side of body" ] ], "xref": [ "UMLS:C0375206" ], "is_a": [ "HP:0010549" ], "is_obsolete": "", "replace_id": "" }, "HP:0004375": { "name": [ "neoplasm of the nervous system", "neoplasm of the nervous system" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the nervous system.", "synonym": [ [ "neoplasia of the nervous system", "neoplasia of the nervous system" ], [ "nervous system cancer", "nervous system cancer" ], [ "tumor of the nervous system", "tumor of the nervous system" ], [ "tumour of the nervous system", "tumour of the nervous system" ] ], "xref": [ "MSH:D009423", "NCIT:C3262", "SNOMEDCT_US:126950007", "UMLS:C0027766" ], "is_a": [ "HP:0011793", "HP:0012639" ], "is_obsolete": "", "replace_id": "" }, "HP:0004376": { "name": [ "neuroblastic tumor", "neuroblastic tumor" ], "alt_id": [], "def": "A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma.", "synonym": [ [ "neuroblastic tumour", "neuroblastic tumour" ] ], "xref": [ "UMLS:C1334953" ], "is_a": [ "HP:0100836" ], "is_obsolete": "", "replace_id": "" }, "HP:0004377": { "name": [ "hematological neoplasm", "hematological neoplasm" ], "alt_id": [], "def": "Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).", "synonym": [ [ "blood tumor", "blood tumor" ], [ "blood tumour", "blood tumour" ], [ "haematological neoplasm", "haematological neoplasm" ] ], "xref": [ "MSH:D019337", "SNOMEDCT_US:129154003", "SNOMEDCT_US:269475001", "UMLS:C0376545" ], "is_a": [ "HP:0001871", "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0004378": { "name": [ "abnormality of the anus", "abnormality of the anus" ], "alt_id": [], "def": "Abnormality of the anal canal.", "synonym": [ [ "abnormality of the anus", "abnormality of the anus" ] ], "xref": [ "UMLS:C4025329" ], "is_a": [ "HP:0012732" ], "is_obsolete": "", "replace_id": "" }, "HP:0004379": { "name": [ "abnormality of alkaline phosphatase level", "abnormality of alkaline phosphatase level" ], "alt_id": [], "def": "An abnormality of alkaline phosphatase level.", "synonym": [ [ "abnormality of alkaline phosphatase activity", "abnormality of alkaline phosphatase activity" ], [ "abnormality of alp level", "abnormality of alp level" ], [ "alkaline phosphatase abnormal", "alkaline phosphatase abnormal" ] ], "xref": [ "UMLS:C4020829", "UMLS:C4025328" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0004380": { "name": [ "aortic valve calcification", "aortic valve calcification" ], "alt_id": [ "HP:0004759", "HP:0005173" ], "def": "Deposition of calcium salts in the aortic valve.", "synonym": [], "xref": [ "MSH:C562942", "SNOMEDCT_US:250978003", "UMLS:C0428791" ], "is_a": [ "HP:0001646", "HP:0005146" ], "is_obsolete": "", "replace_id": "" }, "HP:0004381": { "name": [ "supravalvular aortic stenosis", "supravalvular aortic stenosis" ], "alt_id": [], "def": "A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.", "synonym": [], "xref": [ "Fyler:1430", "MSH:D021921", "SNOMEDCT_US:268185002", "UMLS:C0003499" ], "is_a": [ "HP:0031652" ], "is_obsolete": "", "replace_id": "" }, "HP:0004382": { "name": [ "mitral valve calcification", "mitral valve calcification" ], "alt_id": [ "HP:0005149", "HP:0200129" ], "def": "Abnormal calcification of the mitral valve.", "synonym": [], "xref": [ "SNOMEDCT_US:473372009", "UMLS:C0919718" ], "is_a": [ "HP:0001633", "HP:0005146" ], "is_obsolete": "", "replace_id": "" }, "HP:0004383": { "name": [ "hypoplastic left heart", "hypoplastic leave heart" ], "alt_id": [], "def": "Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.", "synonym": [ [ "heart left ventricle hypoplasia", "heart leave ventricle hypoplasia" ], [ "left ventricular hypoplasia", "leave ventricular hypoplasia" ], [ "underdeveloped left heart", "underdeveloped leave heart" ] ], "xref": [ "MSH:D018636", "SNOMEDCT_US:62067003", "UMLS:C0152101" ], "is_a": [ "HP:0001961", "HP:0045017" ], "is_obsolete": "", "replace_id": "" }, "HP:0004384": { "name": [ "type i truncus arteriosus", "type i truncus arteriosus" ], "alt_id": [], "def": "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.", "synonym": [ [ "persistent truncus arteriosus type i", "persistent truncus arteriosus type i" ], [ "type 1 truncus arteriosus", "type 1 truncus arteriosus" ] ], "xref": [ "Fyler:0510", "Fyler:510", "UMLS:C1834934" ], "is_a": [ "HP:0001660" ], "is_obsolete": "", "replace_id": "" }, "HP:0004385": { "name": [ "protracted diarrhea", "protract diarrhea" ], "alt_id": [], "def": "", "synonym": [ [ "protracted diarrhoea", "protract diarrhoea" ] ], "xref": [ "SNOMEDCT_US:236077008", "UMLS:C0473133" ], "is_a": [ "HP:0002014" ], "is_obsolete": "", "replace_id": "" }, "HP:0004386": { "name": [ "gastrointestinal inflammation", "gastrointestinal inflammation" ], "alt_id": [], "def": "Inflammation of the alimentary part of the gastrointestinal system.", "synonym": [ [ "gastrointestinal inflammation", "gastrointestinal inflammation" ], [ "gi inflammation", "gi inflammation" ] ], "xref": [ "UMLS:C1535950" ], "is_a": [ "HP:0012649", "HP:0012719" ], "is_obsolete": "", "replace_id": "" }, "HP:0004387": { "name": [ "enterocolitis", "enterocolitis" ], "alt_id": [], "def": "An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).", "synonym": [], "xref": [ "MSH:D004760", "SNOMEDCT_US:43752006", "UMLS:C0014356" ], "is_a": [ "HP:0002583" ], "is_obsolete": "", "replace_id": "" }, "HP:0004388": { "name": [ "microcolon", "microcolon" ], "alt_id": [], "def": "A colon of abnormally small caliber.", "synonym": [ [ "microcolon on contrast enema", "microcolon on contrast enema" ] ], "xref": [ "MSH:C562563", "SNOMEDCT_US:18389004", "UMLS:C0266200", "UMLS:C3553395" ], "is_a": [ "HP:0100811" ], "is_obsolete": "", "replace_id": "" }, "HP:0004389": { "name": [ "intestinal pseudo - obstruction", "intestinal pseudo - obstruction" ], "alt_id": [], "def": "A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.", "synonym": [ [ "intestinal pseudoobstruction", "intestinal pseudoobstruction" ] ], "xref": [ "MSH:D007418", "SNOMEDCT_US:235825006", "SNOMEDCT_US:715201005", "UMLS:C0021847" ], "is_a": [ "HP:0002242", "HP:0002579" ], "is_obsolete": "", "replace_id": "" }, "HP:0004390": { "name": [ "hamartomatous polyposis", "hamartomatous polyposis" ], "alt_id": [], "def": "Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.", "synonym": [ [ "gastrointestinal hamartoma", "gastrointestinal hamartoma" ], [ "gastrointestinal hamartomatous polyps", "gastrointestinal hamartomatous polyp" ], [ "hamartomatous polyps", "hamartomatous polyp" ] ], "xref": [ "SNOMEDCT_US:27391005", "UMLS:C0334092", "UMLS:C3277418" ], "is_a": [ "HP:0005266", "HP:0010566" ], "is_obsolete": "", "replace_id": "" }, "HP:0004392": { "name": [ "prune belly", "prune belly" ], "alt_id": [], "def": "A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants.", "synonym": [ [ "prune belly", "prune belly" ] ], "xref": [ "MSH:D011535", "SNOMEDCT_US:5187006", "UMLS:C0033770" ], "is_a": [ "HP:0004298" ], "is_obsolete": "", "replace_id": "" }, "HP:0004394": { "name": [ "multiple gastric polyps", "multiple gastric polyp" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C562464", "SNOMEDCT_US:78809005", "SNOMEDCT_US:87252009", "UMLS:C0236048" ], "is_a": [ "HP:0006753" ], "is_obsolete": "", "replace_id": "" }, "HP:0004395": { "name": [ "malnutrition", "malnutrition" ], "alt_id": [], "def": "A deficiency in the intake of energy and nutrients.", "synonym": [ [ "malnutrition", "malnutrition" ] ], "xref": [ "MSH:D044342", "SNOMEDCT_US:248325000", "SNOMEDCT_US:2492009", "SNOMEDCT_US:47563007", "SNOMEDCT_US:65404009", "SNOMEDCT_US:70241007", "UMLS:C0162429" ], "is_a": [ "HP:0011458" ], "is_obsolete": "", "replace_id": "" }, "HP:0004396": { "name": [ "poor appetite", "poor appetite" ], "alt_id": [], "def": "A reduced desire to eat.", "synonym": [ [ "decreased appetite", "decrease appetite" ], [ "loss of appetite", "loss of appetite" ], [ "no appetite", "no appetite" ], [ "poor appetite", "poor appetite" ] ], "xref": [ "SNOMEDCT_US:64379006", "UMLS:C0232462" ], "is_a": [ "HP:0011458" ], "is_obsolete": "", "replace_id": "" }, "HP:0004397": { "name": [ "ectopic anus", "ectopic anus" ], "alt_id": [], "def": "Abnormal displacement or malposition of the anus.", "synonym": [ [ "abnormal anus position", "abnormal anus position" ], [ "anus malposition", "anus malposition" ] ], "xref": [ "SNOMEDCT_US:5153001", "UMLS:C0266231" ], "is_a": [ "HP:0004378" ], "is_obsolete": "", "replace_id": "" }, "HP:0004398": { "name": [ "peptic ulcer", "peptic ulcer" ], "alt_id": [], "def": "An ulcer of the gastrointestinal tract.", "synonym": [ [ "sore in the lining of gastrointestinal tract", "sore in the lining of gastrointestinal tract" ] ], "xref": [ "MSH:D010437", "SNOMEDCT_US:13200003", "UMLS:C0030920" ], "is_a": [ "HP:0012719" ], "is_obsolete": "", "replace_id": "" }, "HP:0004399": { "name": [ "congenital pyloric atresia", "congenital pyloric atresia" ], "alt_id": [], "def": "Congenital atresia of the pylorus.", "synonym": [], "xref": [ "UMLS:C4025327" ], "is_a": [ "HP:0004400" ], "is_obsolete": "", "replace_id": "" }, "HP:0004400": { "name": [ "abnormality of the pylorus", "abnormality of the pylorus" ], "alt_id": [], "def": "An abnormality of the pylorus.", "synonym": [], "xref": [ "UMLS:C4025326" ], "is_a": [ "HP:0002577" ], "is_obsolete": "", "replace_id": "" }, "HP:0004401": { "name": [ "meconium ileus", "meconium ileus" ], "alt_id": [ "HP:0002610", "HP:0004402" ], "def": "Obstruction of the intestine due to abnormally thick meconium.", "synonym": [ [ "distal intestinal obstruction syndrome", "distal intestinal obstruction syndrome" ], [ "meconium ileus in neonates", "meconium ileus in neonate" ], [ "meconium ileus on ultrasonography", "meconium ileus on ultrasonography" ] ], "xref": [ "SNOMEDCT_US:206523001", "SNOMEDCT_US:233662009", "SNOMEDCT_US:86092005", "UMLS:C0398349", "UMLS:C2939175", "UMLS:C3553397" ], "is_a": [ "HP:0010676" ], "is_obsolete": "", "replace_id": "" }, "HP:0004403": { "name": [ "proximal esophageal atresia", "proximal esophageal atresia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025325" ], "is_a": [ "HP:0002032" ], "is_obsolete": "", "replace_id": "" }, "HP:0004404": { "name": [ "abnormal nipple morphology", "abnormal nipple morphology" ], "alt_id": [], "def": "An abnormality of the nipple.", "synonym": [ [ "abnormality of the nipple", "abnormality of the nipple" ] ], "xref": [ "SNOMEDCT_US:700153004", "UMLS:C3839073" ], "is_a": [ "HP:0031093" ], "is_obsolete": "", "replace_id": "" }, "HP:0004405": { "name": [ "prominent nipples", "prominent nipple" ], "alt_id": [], "def": "", "synonym": [ [ "prominent nipples", "prominent nipple" ] ], "xref": [ "UMLS:C1855513" ], "is_a": [ "HP:0004404" ], "is_obsolete": "", "replace_id": "" }, "HP:0004406": { "name": [ "spontaneous , recurrent epistaxis", "spontaneous , recurrent epistaxis" ], "alt_id": [ "HP:0003684" ], "def": "", "synonym": [ [ "recurrent epistaxes", "recurrent epistaxes" ], [ "recurrent epistaxis", "recurrent epistaxis" ], [ "recurring nosebleed", "recur nosebleed" ], [ "spontaneous , recurrent nosebleed", "spontaneous , recurrent nosebleed" ] ], "xref": [ "UMLS:C3809715" ], "is_a": [ "HP:0000421" ], "is_obsolete": "", "replace_id": "" }, "HP:0004407": { "name": [ "bony paranasal bossing", "bony paranasal boss" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1857499" ], "is_a": [ "HP:0012812" ], "is_obsolete": "", "replace_id": "" }, "HP:0004408": { "name": [ "abnormality of the sense of smell", "abnormality of the sense of smell" ], "alt_id": [ "HP:0004410" ], "def": "An anomaly in the ability to perceive and distinguish scents (odors).", "synonym": [ [ "abnormal sense of smell", "abnormal sense of smell" ], [ "abnormality of olfaction", "abnormality of olfaction" ], [ "abnormality of the sense of smell", "abnormality of the sense of smell" ], [ "smell defect", "smell defect" ] ], "xref": [ "UMLS:C4021655" ], "is_a": [ "HP:0000366", "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0004409": { "name": [ "hyposmia", "hyposmia" ], "alt_id": [], "def": "A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).", "synonym": [ [ "decreased smell sensation", "decrease smell sensation" ], [ "sense of smell impaired", "sense of smell impair" ] ], "xref": [ "SNOMEDCT_US:83156004", "UMLS:C2364082" ], "is_a": [ "HP:0004408" ], "is_obsolete": "", "replace_id": "" }, "HP:0004411": { "name": [ "deviated nasal septum", "deviate nasal septum" ], "alt_id": [], "def": "Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.", "synonym": [ [ "crooked nasal septum", "crook nasal septum" ], [ "crooked septum of nose", "crooked septum of nose" ], [ "deviated nasal septum", "deviate nasal septum" ], [ "deviated septum of nose", "deviate septum of nose" ] ], "xref": [ "SNOMEDCT_US:126660000", "UMLS:C0549397" ], "is_a": [ "HP:0000419" ], "is_obsolete": "", "replace_id": "" }, "HP:0004414": { "name": [ "abnormality of the pulmonary artery", "abnormality of the pulmonary artery" ], "alt_id": [], "def": "An abnormality of the pulmonary artery.", "synonym": [ [ "abnormality of lung artery", "abnormality of lung artery" ] ], "xref": [ "SNOMEDCT_US:128588008", "SNOMEDCT_US:198914002", "SNOMEDCT_US:36110001", "UMLS:C0009681" ], "is_a": [ "HP:0004930" ], "is_obsolete": "", "replace_id": "" }, "HP:0004415": { "name": [ "pulmonary artery stenosis", "pulmonary artery stenosis" ], "alt_id": [], "def": "An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.", "synonym": [ [ "narrowing of lung artery", "narrowing of lung artery" ] ], "xref": [ "Fyler:1622", "MSH:D000071079", "SNOMEDCT_US:95441000", "UMLS:C0238397" ], "is_a": [ "HP:0030966" ], "is_obsolete": "", "replace_id": "" }, "HP:0004416": { "name": [ "precocious atherosclerosis", "precocious atherosclerosis" ], "alt_id": [], "def": "", "synonym": [ [ "premature atherosclerosis", "premature atherosclerosis" ], [ "premature plaque build - up in arteries", "premature plaque build - up in artery" ] ], "xref": [ "UMLS:C4021654", "UMLS:C4280264" ], "is_a": [ "HP:0002621" ], "is_obsolete": "", "replace_id": "" }, "HP:0004417": { "name": [ "intermittent claudication", "intermittent claudication" ], "alt_id": [], "def": "Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.", "synonym": [], "xref": [ "MSH:D007383", "SNOMEDCT_US:63491006", "UMLS:C0021775" ], "is_a": [ "HP:0025323" ], "is_obsolete": "", "replace_id": "" }, "HP:0004418": { "name": [ "thrombophlebitis", "thrombophlebitis" ], "alt_id": [], "def": "Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).", "synonym": [], "xref": [ "MSH:D013924", "SNOMEDCT_US:64156001", "UMLS:C0040046" ], "is_a": [ "HP:0004936" ], "is_obsolete": "", "replace_id": "" }, "HP:0004419": { "name": [ "recurrent thrombophlebitis", "recurrent thrombophlebitis" ], "alt_id": [], "def": "Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).", "synonym": [ [ "recurrent phlebitis", "recurrent phlebitis" ], [ "recurrent thrombosis", "recurrent thrombosis" ] ], "xref": [ "UMLS:C3550150" ], "is_a": [ "HP:0004418" ], "is_obsolete": "", "replace_id": "" }, "HP:0004420": { "name": [ "arterial thrombosis", "arterial thrombosis" ], "alt_id": [], "def": "The formation of a blood clot inside an artery.", "synonym": [ [ "blood clot in artery", "blood clot in artery" ] ], "xref": [ "SNOMEDCT_US:65198009", "UMLS:C0151942" ], "is_a": [ "HP:0001977" ], "is_obsolete": "", "replace_id": "" }, "HP:0004421": { "name": [ "elevated systolic blood pressure", "elevate systolic blood pressure" ], "alt_id": [ "HP:0004956" ], "def": "Abnormal increase in systolic blood pressure.", "synonym": [ [ "elevated systolic bp", "elevate systolic bp" ] ], "xref": [ "UMLS:C1840374" ], "is_a": [ "HP:0032263" ], "is_obsolete": "", "replace_id": "" }, "HP:0004422": { "name": [ "biparietal narrowing", "biparietal narrowing" ], "alt_id": [], "def": "A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).", "synonym": [ [ "decreased width of the skull", "decrease width of the skull" ] ], "xref": [ "UMLS:C1854418", "UMLS:C4280532" ], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0004423": { "name": [ "cranium bifidum occultum", "cranium bifidum occultum" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C566826", "SNOMEDCT_US:718099006", "UMLS:C1868598" ], "is_a": [ "HP:0002084" ], "is_obsolete": "", "replace_id": "" }, "HP:0004425": { "name": [ "flat forehead", "flat forehead" ], "alt_id": [ "HP:0004659" ], "def": "A forehead with abnormal flatness.", "synonym": [ [ "flat forehead", "flat forehead" ], [ "flattened forehead", "flatten forehead" ], [ "frontal flattening", "frontal flattening" ] ], "xref": [ "UMLS:C1857485" ], "is_a": [ "HP:0000290" ], "is_obsolete": "", "replace_id": "" }, "HP:0004426": { "name": [ "abnormality of the cheek", "abnormality of the cheek" ], "alt_id": [], "def": "An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \\\"Buccal\\", "synonym": [ [ "abnormality of the cheek", "abnormality of the cheek" ], [ "abnormality of the cheeks", "abnormality of the cheek" ], [ "anomaly of the cheeks", "anomaly of the cheek" ], [ "deformity of the cheeks", "deformity of the cheek" ], [ "malformation of the cheeks", "malformation of the cheek" ] ], "xref": [ "UMLS:C4025324" ], "is_a": [ "HP:0000309" ], "is_obsolete": "", "replace_id": "" }, "HP:0004428": { "name": [ "elfin facies", "elfin facies" ], "alt_id": [], "def": "This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.", "synonym": [ [ "elf - like facial appearance", "elf - like facial appearance" ], [ "elf - like facial features", "elf - like facial feature" ], [ "leprechaun facies", "leprechaun facies" ] ], "xref": [ "SNOMEDCT_US:69288002", "UMLS:C0332606" ], "is_a": [ "HP:0001999" ], "is_obsolete": "", "replace_id": "" }, "HP:0004429": { "name": [ "recurrent viral infections", "recurrent viral infection" ], "alt_id": [ "HP:0005364" ], "def": "Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.", "synonym": [], "xref": [ "UMLS:C1837066" ], "is_a": [ "HP:0002719" ], "is_obsolete": "", "replace_id": "" }, "HP:0004430": { "name": [ "severe combined immunodeficiency", "severe combine immunodeficiency" ], "alt_id": [], "def": "A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.", "synonym": [ [ "immunodeficiency , severe combined", "immunodeficiency , severe combine" ] ], "xref": [ "MSH:D016511", "SNOMEDCT_US:31323000", "UMLS:C0085110" ], "is_a": [ "HP:0005387" ], "is_obsolete": "", "replace_id": "" }, "HP:0004431": { "name": [ "complement deficiency", "complement deficiency" ], "alt_id": [], "def": "An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.", "synonym": [], "xref": [ "SNOMEDCT_US:24743004", "UMLS:C0272242" ], "is_a": [ "HP:0005339" ], "is_obsolete": "", "replace_id": "" }, "HP:0004432": { "name": [ "agammaglobulinemia", "agammaglobulinemia" ], "alt_id": [ "HP:0008328" ], "def": "A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.", "synonym": [ [ "agammaglobulinaemia", "agammaglobulinaemia" ] ], "xref": [ "MSH:D000361", "SNOMEDCT_US:119249001", "UMLS:C0001768" ], "is_a": [ "HP:0004313" ], "is_obsolete": "", "replace_id": "" }, "HP:0004433": { "name": [ "secretory iga deficiency", "secretory iga deficiency" ], "alt_id": [], "def": "Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens.", "synonym": [], "xref": [ "MSH:C562869", "SNOMEDCT_US:234554004", "UMLS:C0398709" ], "is_a": [ "HP:0041078" ], "is_obsolete": "", "replace_id": "" }, "HP:0004434": { "name": [ "decreased serum complement c8", "decrease serum complement c8" ], "alt_id": [], "def": "A reduced level of the complement component C8 in circulation.", "synonym": [ [ "c8 deficiency", "c8 deficiency" ] ], "xref": [ "UMLS:C3151082" ], "is_a": [ "HP:0033057" ], "is_obsolete": "", "replace_id": "" }, "HP:0004437": { "name": [ "cranial hyperostosis", "cranial hyperostosis" ], "alt_id": [ "HP:0002698" ], "def": "Excessive growth of the bones of cranium, i.e., of the skull.", "synonym": [ [ "enlargement of skull bones", "enlargement of skull bone" ], [ "excessive growth of skull bones", "excessive growth of skull bone" ], [ "hyperostosis of cranial bones", "hyperostosis of cranial bone" ], [ "hyperostosis of cranial vault", "hyperostosis of cranial vault" ], [ "hypertrophy of cranial bones", "hypertrophy of cranial bone" ], [ "increased ossification of cranial bones", "increase ossification of cranial bone" ], [ "overgrowth of skull bones", "overgrowth of skull bone" ], [ "thick skull bones", "thick skull bone" ] ], "xref": [ "UMLS:C1832451", "UMLS:C4280528", "UMLS:C4280529", "UMLS:C4280530", "UMLS:C4280531" ], "is_a": [ "HP:0002683", "HP:0100774" ], "is_obsolete": "", "replace_id": "" }, "HP:0004438": { "name": [ "hyperostosis frontalis interna", "hyperostosis frontalis interna" ], "alt_id": [], "def": "Bony overgrowth of the internal (endosteal) surface of the frontal bone.", "synonym": [ [ "enlargement of the inner surface of the frontal bone", "enlargement of the inner surface of the frontal bone" ], [ "excessive growth of inner surface of the frontal bone", "excessive growth of inner surface of the frontal bone" ], [ "hyperostosis of the internal surface of the frontal bone", "hyperostosis of the internal surface of the frontal bone" ], [ "hypertrophy of the internal surface of the frontal bone", "hypertrophy of the internal surface of the frontal bone" ], [ "increased ossification of the internal surface of the frontal bone", "increase ossification of the internal surface of the frontal bone" ], [ "overgrowth of the inner surface of the frontal bone", "overgrowth of the inner surface of the frontal bone" ], [ "overgrowth of the inside of the frontal bone", "overgrowth of the inside of the frontal bone" ], [ "thick inner surface of the frontal bone", "thick inner surface of the frontal bone" ], [ "thick internal surface of the frontal bone", "thick internal surface of the frontal bone" ] ], "xref": [ "MSH:D006957", "SNOMEDCT_US:82054006", "UMLS:C0020494", "UMLS:C4280524", "UMLS:C4280525", "UMLS:C4280526", "UMLS:C4280527" ], "is_a": [ "HP:0004437" ], "is_obsolete": "", "replace_id": "" }, "HP:0004439": { "name": [ "craniofacial dysostosis", "craniofacial dysostosis" ], "alt_id": [], "def": "A characteristic appearance resulting from defective ossification of craniofacial bones.", "synonym": [ [ "crouzon syndrome", "crouzon syndrome" ] ], "xref": [ "MSH:D003394", "SNOMEDCT_US:28861008", "UMLS:C0010273" ], "is_a": [ "HP:0000271", "HP:0000929" ], "is_obsolete": "", "replace_id": "" }, "HP:0004440": { "name": [ "coronal craniosynostosis", "coronal craniosynostosis" ], "alt_id": [ "HP:0002675", "HP:0002685", "HP:0002739", "HP:0004441" ], "def": "Premature closure of the coronal suture of skull.", "synonym": [ [ "coronal suture craniosynostosis", "coronal suture craniosynostosis" ], [ "coronal suture synostosis", "coronal suture synostosis" ], [ "craniosynostosis of coronal suture", "craniosynostosis of coronal suture" ] ], "xref": [ "UMLS:C1856266" ], "is_a": [ "HP:0001363" ], "is_obsolete": "", "replace_id": "" }, "HP:0004442": { "name": [ "sagittal craniosynostosis", "sagittal craniosynostosis" ], "alt_id": [], "def": "A kind of craniosynostosis affecting the sagittal suture.", "synonym": [ [ "craniosynostosis , sagittal", "craniosynostosis , sagittal" ], [ "craniosynostosis , sagittal suture", "craniosynostosis , sagittal suture" ], [ "early closure of midline skull joint", "early closure of midline skull joint" ], [ "midline skull joint closes early", "midline skull joint close early" ], [ "sagittal suture synostosis", "sagittal suture synostosis" ] ], "xref": [ "SNOMEDCT_US:109418001", "UMLS:C0432123" ], "is_a": [ "HP:0001363" ], "is_obsolete": "", "replace_id": "" }, "HP:0004443": { "name": [ "lambdoidal craniosynostosis", "lambdoidal craniosynostosis" ], "alt_id": [ "HP:0004486" ], "def": "A kind of craniosynostosis affecting the lambdoidal suture.", "synonym": [ [ "lambdoid suture craniosynostosis", "lambdoid suture craniosynostosis" ], [ "lambdoid suture synostosis", "lambdoid suture synostosis" ] ], "xref": [ "MSH:D003398", "SNOMEDCT_US:109417006", "UMLS:C1833340" ], "is_a": [ "HP:0001363" ], "is_obsolete": "", "replace_id": "" }, "HP:0004444": { "name": [ "spherocytosis", "spherocytosis" ], "alt_id": [ "HP:0004816" ], "def": "The presence of erythrocytes that are sphere-shaped.", "synonym": [], "xref": [ "SNOMEDCT_US:17235000", "UMLS:C0553720" ], "is_a": [ "HP:0004447" ], "is_obsolete": "", "replace_id": "" }, "HP:0004445": { "name": [ "elliptocytosis", "elliptocytosis" ], "alt_id": [ "HP:0004837" ], "def": "The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.", "synonym": [ [ "elliptocyte", "elliptocyte" ], [ "hereditary elliptocytosis", "hereditary elliptocytosis" ], [ "ovalocytes", "ovalocytes" ], [ "ovalocytosis", "ovalocytosis" ] ], "xref": [ "MSH:D004612", "SNOMEDCT_US:178935009", "SNOMEDCT_US:191169008", "SNOMEDCT_US:250242004", "UMLS:C0013902", "UMLS:C0427480" ], "is_a": [ "HP:0004447" ], "is_obsolete": "", "replace_id": "" }, "HP:0004446": { "name": [ "stomatocytosis", "stomatocytosis" ], "alt_id": [ "HP:0004801" ], "def": "The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.", "synonym": [ [ "erythrocyte stomatocytes", "erythrocyte stomatocytes" ], [ "red cell stomatocytosis", "red cell stomatocytosis" ] ], "xref": [ "UMLS:C0677598" ], "is_a": [ "HP:0004447" ], "is_obsolete": "", "replace_id": "" }, "HP:0004447": { "name": [ "poikilocytosis", "poikilocytosis" ], "alt_id": [], "def": "The presence of abnormally shaped erythrocytes.", "synonym": [], "xref": [ "SNOMEDCT_US:165479004", "UMLS:C0221281" ], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0004448": { "name": [ "fulminant hepatic failure", "fulminant hepatic failure" ], "alt_id": [], "def": "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.", "synonym": [], "xref": [ "MSH:D017114", "SNOMEDCT_US:197270009", "SNOMEDCT_US:235884008", "UMLS:C0162557" ], "is_a": [ "HP:0006554" ], "is_obsolete": "", "replace_id": "" }, "HP:0004450": { "name": [ "preauricular skin furrow", "preauricular skin furrow" ], "alt_id": [], "def": "A groove of the skin immediately in front of the ear.", "synonym": [ [ "preauricular skin furrows", "preauricular skin furrow" ], [ "preauricular skin groove", "preauricular skin groove" ], [ "preauricular skin sulcus", "preauricular skin sulcus" ], [ "skin groove in front of the ear", "skin groove in front of the ear" ], [ "skin sulcus in front of the ear", "skin sulcus in front of the ear" ] ], "xref": [ "UMLS:C1852411" ], "is_a": [ "HP:0000383" ], "is_obsolete": "", "replace_id": "" }, "HP:0004451": { "name": [ "postauricular skin tag", "postauricular skin tag" ], "alt_id": [], "def": "A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear).", "synonym": [ [ "postauricular acrochordon", "postauricular acrochordon" ], [ "postauricular fibroepithelial polyp", "postauricular fibroepithelial polyp" ], [ "skin tag behind the ear", "skin tag behind the ear" ] ], "xref": [ "UMLS:C4025323" ], "is_a": [ "HP:0000383" ], "is_obsolete": "", "replace_id": "" }, "HP:0004452": { "name": [ "abnormality of the middle ear ossicles", "abnormality of the middle ear ossicle" ], "alt_id": [ "HP:0001759" ], "def": "An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).", "synonym": [ [ "malformed ossicles", "malformed ossicle" ], [ "ossicular malformation", "ossicular malformation" ] ], "xref": [ "UMLS:C1836678" ], "is_a": [ "HP:0008609" ], "is_obsolete": "", "replace_id": "" }, "HP:0004453": { "name": [ "overfolding of the superior helices", "overfolding of the superior helix" ], "alt_id": [], "def": "A condition in which the superior portion of the helix is folded over to a greater degree than normal.", "synonym": [ [ "overfolding of superior helix", "overfolding of superior helix" ] ], "xref": [ "UMLS:C1865304" ], "is_a": [ "HP:0000396" ], "is_obsolete": "", "replace_id": "" }, "HP:0004454": { "name": [ "abnormal middle ear reflexes", "abnormal middle ear reflex" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1970887" ], "is_a": [ "HP:0011452" ], "is_obsolete": "", "replace_id": "" }, "HP:0004458": { "name": [ "dilatated internal auditory canal", "dilatated internal auditory canal" ], "alt_id": [], "def": "The presence of a dilated inner part of external acoustic meatus.", "synonym": [ [ "bulbous internal auditory canal", "bulbous internal auditory canal" ], [ "enlarged internal auditory canal", "enlarge internal auditory canal" ] ], "xref": [ "UMLS:C2676973" ], "is_a": [ "HP:0011384" ], "is_obsolete": "", "replace_id": "" }, "HP:0004459": { "name": [ "exostosis of the external auditory canal", "exostosis of the external auditory canal" ], "alt_id": [], "def": "A benign bony growth projecting outward from a bone surface within the external auditory canal.", "synonym": [ [ "external auditory canal exostoses", "external auditory canal exostosis" ] ], "xref": [ "SNOMEDCT_US:19560007", "UMLS:C0155411" ], "is_a": [ "HP:0000372", "HP:0040095", "HP:0100777" ], "is_obsolete": "", "replace_id": "" }, "HP:0004461": { "name": [ "congenital earlobe sinuses", "congenital earlobe sinus" ], "alt_id": [], "def": "Pits in the earlobes at the location where ears are typically pierced for earrings.", "synonym": [], "xref": [ "UMLS:C1969394" ], "is_a": [ "HP:0000363" ], "is_obsolete": "", "replace_id": "" }, "HP:0004463": { "name": [ "absent brainstem auditory responses", "absent brainstem auditory response" ], "alt_id": [], "def": "Lack of measurable response to stimulation of auditory evoked potentials.", "synonym": [ [ "no auditory brainstem response", "no auditory brainstem response" ] ], "xref": [ "UMLS:C1836742" ], "is_a": [ "HP:0006958" ], "is_obsolete": "", "replace_id": "" }, "HP:0004464": { "name": [ "postauricular pit", "postauricular pit" ], "alt_id": [], "def": "Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.", "synonym": [ [ "pit behind the ear", "pit behind the ear" ], [ "postauricular earpits", "postauricular earpits" ], [ "postauricular fistula", "postauricular fistula" ], [ "posterior auricular pit", "posterior auricular pit" ], [ "posterior auricular sinus", "posterior auricular sinus" ] ], "xref": [ "SNOMEDCT_US:43887004", "UMLS:C0395905" ], "is_a": [ "HP:0100277" ], "is_obsolete": "", "replace_id": "" }, "HP:0004466": { "name": [ "prolonged brainstem auditory evoked potentials", "prolonged brainstem auditory evoke potential" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025322" ], "is_a": [ "HP:0006958" ], "is_obsolete": "", "replace_id": "" }, "HP:0004467": { "name": [ "preauricular pit", "preauricular pit" ], "alt_id": [ "HP:0000392", "HP:0004460", "HP:0005118", "HP:0008552", "HP:0008578" ], "def": "Small indentation anterior to the insertion of the ear.", "synonym": [ [ "ear pit", "ear pit" ], [ "pit in front of the ear", "pit in front of the ear" ], [ "preauricular earpits", "preauricular earpits" ], [ "preauricular fistulas", "preauricular fistula" ], [ "preauricular pits", "preauricular pit" ], [ "preauricular sinus", "preauricular sinus" ] ], "xref": [ "MSH:C563015", "SNOMEDCT_US:1955003", "SNOMEDCT_US:204271000", "SNOMEDCT_US:204272007", "UMLS:C0266610", "UMLS:C0266625", "UMLS:C0546969" ], "is_a": [ "HP:0100277" ], "is_obsolete": "", "replace_id": "" }, "HP:0004468": { "name": [ "anomalous tracheal cartilage", "anomalous tracheal cartilage" ], "alt_id": [], "def": "An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue).", "synonym": [ [ "abnormal tracheal cartilaginous ring", "abnormal tracheal cartilaginous ring" ] ], "xref": [ "UMLS:C1863406" ], "is_a": [ "HP:0002778" ], "is_obsolete": "", "replace_id": "" }, "HP:0004469": { "name": [ "chronic bronchitis", "chronic bronchitis" ], "alt_id": [], "def": "Chronic inflammation of the bronchi.", "synonym": [], "xref": [ "MSH:D029481", "SNOMEDCT_US:63480004", "UMLS:C0008677" ], "is_a": [ "HP:0012387" ], "is_obsolete": "", "replace_id": "" }, "HP:0004470": { "name": [ "atretic occipital cephalocele", "atretic occipital cephalocele" ], "alt_id": [], "def": "A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues.", "synonym": [], "xref": [ "UMLS:C1836600" ], "is_a": [ "HP:0011815" ], "is_obsolete": "", "replace_id": "" }, "HP:0004471": { "name": [ "aplasia cutis congenita over the scalp vertex", "aplasia cutis congenita over the scalp vertex" ], "alt_id": [], "def": "A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.", "synonym": [ [ "absent cutis congenita of vertex", "absent cutis congenita of vertex" ], [ "aplasia cutis congenita of vertex", "aplasia cutis congenita of vertex" ] ], "xref": [ "UMLS:C1970112" ], "is_a": [ "HP:0007385" ], "is_obsolete": "", "replace_id": "" }, "HP:0004472": { "name": [ "mandibular hyperostosis", "mandibular hyperostosis" ], "alt_id": [], "def": "Hyperostosis (bony overgrowth) of the mandible.", "synonym": [ [ "excessive growth of mandibular bone", "excessive growth of mandibular bone" ], [ "hyperostosis of lower jaw", "hyperostosis of low jaw" ], [ "hyperostosis of mandibular bone", "hyperostosis of mandibular bone" ], [ "increased ossification of lower jaw", "increase ossification of low jaw" ], [ "increased ossification of mandible", "increase ossification of mandible" ], [ "increased ossification of mandibular bone", "increase ossification of mandibular bone" ], [ "overgrowth of mandibular bone", "overgrowth of mandibular bone" ], [ "thick lower jaw bone", "thick low jaw bone" ], [ "thick mandibular bone", "thick mandibular bone" ] ], "xref": [ "UMLS:C4025321", "UMLS:C4280521", "UMLS:C4280522", "UMLS:C4280523" ], "is_a": [ "HP:0005465" ], "is_obsolete": "", "replace_id": "" }, "HP:0004474": { "name": [ "persistent open anterior fontanelle", "persistent open anterior fontanelle" ], "alt_id": [ "HP:0004475", "HP:0004483" ], "def": "The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.", "synonym": [ [ "anterior fontanelle open in adults", "anterior fontanelle open in adult" ], [ "front fontanelle stays open", "front fontanelle stay open" ], [ "persistent , open anterior fontanel", "persistent , open anterior fontanel" ] ], "xref": [ "UMLS:C1849537" ], "is_a": [ "HP:0001476" ], "is_obsolete": "", "replace_id": "" }, "HP:0004476": { "name": [ "aplasia cutis congenita over parietal area", "aplasia cutis congenita over parietal area" ], "alt_id": [], "def": "A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.", "synonym": [ [ "absent cutis congenita over parietal area", "absent cutis congenita over parietal area" ] ], "xref": [ "UMLS:C1863492" ], "is_a": [ "HP:0007385" ], "is_obsolete": "", "replace_id": "" }, "HP:0004478": { "name": [ "ethmoidal encephalocele", "ethmoidal encephalocele" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1843495" ], "is_a": [ "HP:0011817" ], "is_obsolete": "", "replace_id": "" }, "HP:0004481": { "name": [ "progressive macrocephaly", "progressive macrocephaly" ], "alt_id": [ "HP:0000261" ], "def": "The progressive development of an abnormally large skull.", "synonym": [ [ "macrocephaly , progressive", "macrocephaly , progressive" ], [ "progressively abnormally enlarging cranium", "progressively abnormally enlarge cranium" ], [ "progressively abnormally enlarging skull", "progressively abnormally enlarge skull" ] ], "xref": [ "UMLS:C1859896" ], "is_a": [ "HP:0000256" ], "is_obsolete": "", "replace_id": "" }, "HP:0004482": { "name": [ "relative macrocephaly", "relative macrocephaly" ], "alt_id": [ "HP:0000257", "HP:0001364" ], "def": "A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.", "synonym": [ [ "disproportionately large head", "disproportionately large head" ], [ "macrocephaly , relative", "macrocephaly , relative" ], [ "relatively large head", "relatively large head" ] ], "xref": [ "SNOMEDCT_US:3961000119101", "UMLS:C1849075" ], "is_a": [ "HP:0000256" ], "is_obsolete": "", "replace_id": "" }, "HP:0004484": { "name": [ "craniofacial asymmetry", "craniofacial asymmetry" ], "alt_id": [], "def": "Asymmetry of the bones of the skull and the face.", "synonym": [ [ "abnormality of craniofacial shape", "abnormality of craniofacial shape" ], [ "malformation of craniofacial shape", "malformation of craniofacial shape" ], [ "uneven craniofacial structures", "uneven craniofacial structure" ] ], "xref": [ "UMLS:C4025320" ], "is_a": [ "HP:0000267", "HP:0000324", "HP:0011821" ], "is_obsolete": "", "replace_id": "" }, "HP:0004485": { "name": [ "cessation of head growth", "cessation of head growth" ], "alt_id": [], "def": "Stagnation of head growth seen as flattening of the head circumference curve.", "synonym": [ [ "cranium stopped growing", "cranium stop grow" ], [ "head stopped growing", "head stop grow" ], [ "skull stopped growing", "skull stop grow" ] ], "xref": [ "UMLS:C4025319" ], "is_a": [ "HP:0005484" ], "is_obsolete": "", "replace_id": "" }, "HP:0004487": { "name": [ "acrobrachycephaly", "acrobrachycephaly" ], "alt_id": [], "def": "An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures.", "synonym": [], "xref": [ "SNOMEDCT_US:711039004", "UMLS:C1863395" ], "is_a": [ "HP:0000248" ], "is_obsolete": "", "replace_id": "" }, "HP:0004488": { "name": [ "macrocephaly at birth", "macrocephaly at birth" ], "alt_id": [], "def": "The presence of an abnormally large skull with onset at birth.", "synonym": [ [ "big cranium present at birth", "big cranium present at birth" ], [ "big cranium present since birth", "big cranium present since birth" ], [ "big head present at birth", "big head present at birth" ], [ "big head present since birth", "big head present since birth" ], [ "big skull present at birth", "big skull present at birth" ], [ "big skull present since birth", "big skull present since birth" ], [ "congenital large cranium", "congenital large cranium" ], [ "congenital large head", "congenital large head" ], [ "congenital large skull", "congenital large skull" ], [ "congenital macrocephaly", "congenital macrocephaly" ], [ "head circumference large for gestational age", "head circumference large for gestational age" ], [ "large cranium present at birth", "large cranium present at birth" ], [ "large cranium present since birth", "large cranium present since birth" ], [ "large head present at birth", "large head present at birth" ], [ "large head present since birth", "large head present since birth" ], [ "large skull present at birth", "large skull present at birth" ], [ "large skull present since birth", "large skull present since birth" ] ], "xref": [ "UMLS:C1836599" ], "is_a": [ "HP:0000256" ], "is_obsolete": "", "replace_id": "" }, "HP:0004490": { "name": [ "calvarial hyperostosis", "calvarial hyperostosis" ], "alt_id": [], "def": "Excessive growth of the calvaria.", "synonym": [ [ "enlargement of calvarial bones", "enlargement of calvarial bone" ], [ "excessive growth of calvarial bones", "excessive growth of calvarial bone" ], [ "hyperostosis of calvarial bones", "hyperostosis of calvarial bone" ], [ "hypertrophy of calvarial bones", "hypertrophy of calvarial bone" ], [ "increased ossification of calvarial bones", "increase ossification of calvarial bone" ], [ "overgrowth of calvarial bones", "overgrowth of calvarial bone" ], [ "overgrowth of skullcap", "overgrowth of skullcap" ], [ "thick calvarial bones", "thick calvarial bone" ] ], "xref": [ "MSH:C537963", "UMLS:C1863351", "UMLS:C4280519", "UMLS:C4280520" ], "is_a": [ "HP:0004437" ], "is_obsolete": "", "replace_id": "" }, "HP:0004491": { "name": [ "large posterior fontanelle", "large posterior fontanelle" ], "alt_id": [], "def": "An enlargement of the posterior fontanelle relative to age-dependent norms.", "synonym": [ [ "large posterior fontanel", "large posterior fontanel" ] ], "xref": [ "UMLS:C1855233" ], "is_a": [ "HP:0000239" ], "is_obsolete": "", "replace_id": "" }, "HP:0004492": { "name": [ "widely patent fontanelles and sutures", "widely patent fontanelle and suture" ], "alt_id": [ "HP:0002646", "HP:0005492" ], "def": "An abnormally increased width of the cranial fontanelles and sutures.", "synonym": [ [ "widely patent fontanels and sutures", "widely patent fontanel and suture" ] ], "xref": [ "UMLS:C1849300" ], "is_a": [ "HP:0000239", "HP:0010537" ], "is_obsolete": "", "replace_id": "" }, "HP:0004493": { "name": [ "craniofacial hyperostosis", "craniofacial hyperostosis" ], "alt_id": [], "def": "Excessive growth of the craniofacial bones.", "synonym": [ [ "enlargement of craniofacial bones", "enlargement of craniofacial bone" ], [ "excessive bone growth of the skull and face", "excessive bone growth of the skull and face" ], [ "excessive growth of craniofacial bones", "excessive growth of craniofacial bone" ], [ "hyperostosis of craniofacial bones", "hyperostosis of craniofacial bone" ], [ "hypertrophy of craniofacial bones", "hypertrophy of craniofacial bone" ], [ "increased ossification of craniofacial bones", "increase ossification of craniofacial bone" ], [ "overgrowth of craniofacial bones", "overgrowth of craniofacial bone" ], [ "thick craniofacial bones", "thick craniofacial bone" ] ], "xref": [ "UMLS:C1868085", "UMLS:C4280516", "UMLS:C4280517", "UMLS:C4280518" ], "is_a": [ "HP:0000271", "HP:0004437", "HP:0011821" ], "is_obsolete": "", "replace_id": "" }, "HP:0004495": { "name": [ "thin anteverted nares", "thin anteverted naris" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1834056" ], "is_a": [ "HP:0000463" ], "is_obsolete": "", "replace_id": "" }, "HP:0004496": { "name": [ "posterior choanal atresia", "posterior choanal atresia" ], "alt_id": [], "def": "Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture).", "synonym": [], "xref": [ "MSH:C562435", "UMLS:C0220723" ], "is_a": [ "HP:0000453" ], "is_obsolete": "", "replace_id": "" }, "HP:0004499": { "name": [ "chronic rhinitis due to narrow nasal airway", "chronic rhinitis due to narrow nasal airway" ], "alt_id": [], "def": "", "synonym": [ [ "chronic nasal inflammation due to narrow nasal airway", "chronic nasal inflammation due to narrow nasal airway" ] ], "xref": [ "UMLS:C4025318" ], "is_a": [ "HP:0002257" ], "is_obsolete": "", "replace_id": "" }, "HP:0004502": { "name": [ "bilateral choanal atresia", "bilateral choanal atresia" ], "alt_id": [], "def": "Bilateral absence (atresia) of the posterior nasal aperture (choana).", "synonym": [ [ "bilateral blockage of the rear opening of the nasal cavity", "bilateral blockage of the rear opening of the nasal cavity" ], [ "bilateral obstruction of the rear opening of the nasal cavity", "bilateral obstruction of the rear opening of the nasal cavity" ] ], "xref": [ "UMLS:C4025317" ], "is_a": [ "HP:0000453" ], "is_obsolete": "", "replace_id": "" }, "HP:0004510": { "name": [ "pancreatic islet - cell hyperplasia", "pancreatic islet - cell hyperplasia" ], "alt_id": [ "HP:0001736", "HP:0006275" ], "def": "Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.", "synonym": [ [ "hyperplastic islets of langerhans", "hyperplastic islet of langerhans" ], [ "hypertrophic pancreatic islets", "hypertrophic pancreatic islet" ], [ "islet of langerhans hyperplasia", "islet of langerhans hyperplasia" ], [ "islets of langerhans hypertrophy", "islet of langerhans hypertrophy" ], [ "pancreatic islet - cell hypertrophy", "pancreatic islet - cell hypertrophy" ] ], "xref": [ "UMLS:C0597167" ], "is_a": [ "HP:0006476" ], "is_obsolete": "", "replace_id": "" }, "HP:0004523": { "name": [ "long eyebrows", "long eyebrow" ], "alt_id": [], "def": "Increased length of the hairs of the eyebrows.", "synonym": [ [ "elongated eyebrow", "elongate eyebrow" ], [ "increased horizontal length of eyebrow", "increase horizontal length of eyebrow" ], [ "increased transverse length of eyebrow", "increased transverse length of eyebrow" ], [ "long eyebrows", "long eyebrow" ] ], "xref": [ "UMLS:C3280131" ], "is_a": [ "HP:0000534" ], "is_obsolete": "", "replace_id": "" }, "HP:0004524": { "name": [ "temporal hypotrichosis", "temporal hypotrichosis" ], "alt_id": [], "def": "Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).", "synonym": [ [ "reduced hair growth in temporal region", "reduce hair growth in temporal region" ] ], "xref": [ "UMLS:C4025316" ], "is_a": [ "HP:0011361" ], "is_obsolete": "", "replace_id": "" }, "HP:0004527": { "name": [ "large clumps of pigment irregularly distributed along hair shaft", "large clump of pigment irregularly distribute along hair shaft" ], "alt_id": [], "def": "", "synonym": [ [ "large clumps of pigment irregularly distributed along hair shaft", "large clump of pigment irregularly distribute along hair shaft" ] ], "xref": [ "UMLS:C4025315" ], "is_a": [ "HP:0002220" ], "is_obsolete": "", "replace_id": "" }, "HP:0004528": { "name": [ "generalized hypotrichosis", "generalize hypotrichosis" ], "alt_id": [ "HP:0004513" ], "def": "Reduced or lacking hair growth in a generalized distribution.", "synonym": [ [ "generalised hypotrichosis", "generalise hypotrichosis" ], [ "hypotrichosis , generalised", "hypotrichosis , generalise" ], [ "hypotrichosis , generalized", "hypotrichosis , generalize" ] ], "xref": [ "UMLS:C4021653" ], "is_a": [ "HP:0008070" ], "is_obsolete": "", "replace_id": "" }, "HP:0004529": { "name": [ "atrophic , patchy alopecia", "atrophic , patchy alopecia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025314" ], "is_a": [ "HP:0002232" ], "is_obsolete": "", "replace_id": "" }, "HP:0004532": { "name": [ "sacral hypertrichosis", "sacral hypertrichosis" ], "alt_id": [], "def": "Excessive, increased hair growth located in the sacral region.", "synonym": [], "xref": [ "UMLS:C4025313" ], "is_a": [ "HP:0000998" ], "is_obsolete": "", "replace_id": "" }, "HP:0004535": { "name": [ "anterior cervical hypertrichosis", "anterior cervical hypertrichosis" ], "alt_id": [ "HP:0004517", "HP:0004773" ], "def": "Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence.", "synonym": [ [ "congenital cervical hypertrichosis", "congenital cervical hypertrichosis" ], [ "hypertrichosis , congenital anterior cervical", "hypertrichosis , congenital anterior cervical" ] ], "xref": [ "MSH:C538390", "UMLS:C1838123" ], "is_a": [ "HP:0000998" ], "is_obsolete": "", "replace_id": "" }, "HP:0004540": { "name": [ "congenital , generalized hypertrichosis", "congenital , generalize hypertrichosis" ], "alt_id": [ "HP:0004547", "HP:0004769" ], "def": "A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.", "synonym": [ [ "congenital generalised hypertrichosis", "congenital generalise hypertrichosis" ], [ "congenital generalized hypertrichosis", "congenital generalize hypertrichosis" ], [ "congenital , generalised hypertrichosis", "congenital , generalise hypertrichosis" ], [ "hypertrichosis universalis", "hypertrichosis universalis" ] ], "xref": [ "MSH:C538388", "UMLS:C1855900" ], "is_a": [ "HP:0000998" ], "is_obsolete": "", "replace_id": "" }, "HP:0004544": { "name": [ "obsolete pointed frontal hairline", "obsolete point frontal hairline" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000349" }, "HP:0004552": { "name": [ "scarring alopecia of scalp", "scar alopecia of scalp" ], "alt_id": [], "def": "", "synonym": [ [ "cicatricial alopecia", "cicatricial alopecia" ], [ "hair loss on scalp from scarring condition", "hair loss on scalp from scar condition" ] ], "xref": [ "UMLS:C3806301" ], "is_a": [ "HP:0000987", "HP:0002293" ], "is_obsolete": "", "replace_id": "" }, "HP:0004554": { "name": [ "generalized hypertrichosis", "generalize hypertrichosis" ], "alt_id": [ "HP:0004543", "HP:0004766" ], "def": "Generalized excessive, abnormal hairiness.", "synonym": [ [ "generalised hypertrichosis", "generalise hypertrichosis" ] ], "xref": [ "UMLS:C3277940" ], "is_a": [ "HP:0000998" ], "is_obsolete": "", "replace_id": "" }, "HP:0004557": { "name": [ "anterior vertebral fusion", "anterior vertebral fusion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1969393" ], "is_a": [ "HP:0002948" ], "is_obsolete": "", "replace_id": "" }, "HP:0004558": { "name": [ "cervical platyspondyly", "cervical platyspondyly" ], "alt_id": [ "HP:0005641" ], "def": "A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.", "synonym": [ [ "flattened cervical vertebral bodies", "flatten cervical vertebral body" ] ], "xref": [ "UMLS:C1856641" ], "is_a": [ "HP:0000926", "HP:0046508" ], "is_obsolete": "", "replace_id": "" }, "HP:0004562": { "name": [ "beaking of vertebral bodies t12 - l3", "beaking of vertebral body t12 - l3" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1854941" ], "is_a": [ "HP:0004568" ], "is_obsolete": "", "replace_id": "" }, "HP:0004563": { "name": [ "increased spinal bone density", "increase spinal bone density" ], "alt_id": [], "def": "Increased bone density affecting the bones of the spine (vertebral column).", "synonym": [ [ "compact spinal bone", "compact spinal bone" ], [ "concrete spinal bone", "concrete spinal bone" ], [ "dense spinal bone", "dense spinal bone" ], [ "eburnation of spinal bone", "eburnation of spinal bone" ], [ "increased density of spinal bone", "increase density of spinal bone" ], [ "increased spinal bone density z", "increase spinal bone density z" ], [ "ivory spinal bone", "ivory spinal bone" ], [ "sclerosis of spinal bone", "sclerosis of spinal bone" ] ], "xref": [ "UMLS:C4020828", "UMLS:C4280254", "UMLS:C4280513", "UMLS:C4280514", "UMLS:C4280515" ], "is_a": [ "HP:0004330" ], "is_obsolete": "", "replace_id": "" }, "HP:0004565": { "name": [ "severe platyspondyly", "severe platyspondyly" ], "alt_id": [ "HP:0004564" ], "def": "", "synonym": [ [ "platyspondyly , extreme", "platyspondyly , extreme" ] ], "xref": [ "UMLS:C1850293" ], "is_a": [ "HP:0000926" ], "is_obsolete": "", "replace_id": "" }, "HP:0004566": { "name": [ "pear - shaped vertebrae", "pear - shape vertebra" ], "alt_id": [], "def": "Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.", "synonym": [ [ "pear - shaped vertebral bodies", "pear - shaped vertebral body" ] ], "xref": [ "UMLS:C1866731" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0004568": { "name": [ "beaking of vertebral bodies", "beaking of vertebral body" ], "alt_id": [ "HP:0003313", "HP:0003315", "HP:0004569", "HP:0004577", "HP:0004584", "HP:0005122" ], "def": "Anterior tongue-like protrusions of the vertebral bodies.", "synonym": [ [ "anterior beaking", "anterior beak" ], [ "anterior beaking of vertebrae", "anterior beaking of vertebra" ], [ "anterior beaking of vertebral bodies", "anterior beaking of vertebral body" ], [ "beaked vertebral bodies", "beak vertebral body" ], [ "vertebral tongue - like protrusion", "vertebral tongue - like protrusion" ] ], "xref": [ "SNOMEDCT_US:19888007", "UMLS:C0264112", "UMLS:C1856599" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0004570": { "name": [ "increased vertebral height", "increase vertebral height" ], "alt_id": [ "HP:0005693" ], "def": "Increased top to bottom height of vertebral bodies.", "synonym": [ [ "tall vertebral bodies", "tall vertebral body" ] ], "xref": [ "UMLS:C1864853" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0004571": { "name": [ "widening of cervical spinal canal", "widening of cervical spinal canal" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3807591" ], "is_a": [ "HP:0046508" ], "is_obsolete": "", "replace_id": "" }, "HP:0004573": { "name": [ "anterior wedging of t11", "anterior wedging of t11" ], "alt_id": [], "def": "An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).", "synonym": [ [ "anterior wedging of the 11th thoracic vertebra", "anterior wedging of the 11th thoracic vertebra" ], [ "wedge - shaped 11th thoracic vertebra", "wedge - shape 11th thoracic vertebra" ] ], "xref": [ "UMLS:C4021652" ], "is_a": [ "HP:0008422" ], "is_obsolete": "", "replace_id": "" }, "HP:0004575": { "name": [ "fusion of midcervical facet joints", "fusion of midcervical facet joint" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1847394" ], "is_a": [ "HP:0002949" ], "is_obsolete": "", "replace_id": "" }, "HP:0004576": { "name": [ "sclerotic vertebral endplates", "sclerotic vertebral endplate" ], "alt_id": [], "def": "Sclerosis (increased density) affecting vertebral end plates.", "synonym": [ [ "endplate sclerosis", "endplate sclerosis" ] ], "xref": [ "UMLS:C1859698" ], "is_a": [ "HP:0005106" ], "is_obsolete": "", "replace_id": "" }, "HP:0004580": { "name": [ "anterior scalloping of vertebral bodies", "anterior scalloping of vertebral body" ], "alt_id": [], "def": "An excessive concavity of the anterior surface of one or more vertebral bodies.", "synonym": [ [ "anterior scalloping vertebral bodies", "anterior scallop vertebral body" ] ], "xref": [ "UMLS:C2673652" ], "is_a": [ "HP:0004586" ], "is_obsolete": "", "replace_id": "" }, "HP:0004581": { "name": [ "increased anterior vertebral height", "increase anterior vertebral height" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1866732" ], "is_a": [ "HP:0004570" ], "is_obsolete": "", "replace_id": "" }, "HP:0004582": { "name": [ "irregularity of vertebral bodies", "irregularity of vertebral body" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025311" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0004586": { "name": [ "biconcave vertebral bodies", "biconcave vertebral body" ], "alt_id": [ "HP:0002952", "HP:0004561", "HP:0004620" ], "def": "Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.", "synonym": [ [ "biconcave 'codfish ' vertebrae", "biconcave 'codfish ' vertebra" ], [ "biconcave vertebrae", "biconcave vertebra" ], [ "codfish vertebrae", "codfish vertebra" ], [ "fish vertebrae", "fish vertebra" ], [ "scalloping of vertebral bodies", "scalloping of vertebral body" ] ], "xref": [ "UMLS:C1856087" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0004589": { "name": [ "dysplasia of second lumbar vertebra", "dysplasia of second lumbar vertebra" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025310" ], "is_a": [ "HP:0003468" ], "is_obsolete": "", "replace_id": "" }, "HP:0004590": { "name": [ "hypoplastic sacrum", "hypoplastic sacrum" ], "alt_id": [], "def": "", "synonym": [ [ "small sacrum", "small sacrum" ] ], "xref": [ "UMLS:C1970816" ], "is_a": [ "HP:0008517" ], "is_obsolete": "", "replace_id": "" }, "HP:0004591": { "name": [ "disc - like vertebral bodies", "disc - like vertebral body" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1835444" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0004592": { "name": [ "thoracic platyspondyly", "thoracic platyspondyly" ], "alt_id": [], "def": "A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine.", "synonym": [], "xref": [ "UMLS:C1862428" ], "is_a": [ "HP:0000926" ], "is_obsolete": "", "replace_id": "" }, "HP:0004594": { "name": [ "hump - shaped mound of bone in central and posterior portions of vertebral endplate", "hump - shape mound of bone in central and posterior portion of vertebral endplate" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1839252" ], "is_a": [ "HP:0003301" ], "is_obsolete": "", "replace_id": "" }, "HP:0004598": { "name": [ "supernumerary vertebral ossification centers", "supernumerary vertebral ossification center" ], "alt_id": [], "def": "Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine.", "synonym": [ [ "supernumerary vertebral ossification centres", "supernumerary vertebral ossification centre" ] ], "xref": [ "UMLS:C4025309" ], "is_a": [ "HP:0000926", "HP:0100569" ], "is_obsolete": "", "replace_id": "" }, "HP:0004599": { "name": [ "absent or minimally ossified vertebral bodies", "absent or minimally ossified vertebral body" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1832983" ], "is_a": [ "HP:0100569" ], "is_obsolete": "", "replace_id": "" }, "HP:0004601": { "name": [ "spina bifida occulta at l5", "spina bifida occulta at l5" ], "alt_id": [], "def": "The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin.", "synonym": [], "xref": [ "UMLS:C4025308" ], "is_a": [ "HP:0003298" ], "is_obsolete": "", "replace_id": "" }, "HP:0004602": { "name": [ "cervical c2 / c3 vertebral fusion", "cervical c2 / c3 vertebral fusion" ], "alt_id": [ "HP:0004636" ], "def": "Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine.", "synonym": [ [ "fusion of cervical vertebrae c2 - 3", "fusion of cervical vertebra c2 - 3" ], [ "klippel - feil anomaly", "klippel - feil anomaly" ], [ "klippel - feil syndrome", "klippel - feil syndrome" ] ], "xref": [ "MSH:D007714", "SNOMEDCT_US:388981000", "SNOMEDCT_US:5601008", "UMLS:C0022738" ], "is_a": [ "HP:0002949" ], "is_obsolete": "", "replace_id": "" }, "HP:0004603": { "name": [ "hyperconvex vertebral body endplates", "hyperconvex vertebral body endplate" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025307" ], "is_a": [ "HP:0005106" ], "is_obsolete": "", "replace_id": "" }, "HP:0004605": { "name": [ "absent vertebral body mineralization", "absent vertebral body mineralization" ], "alt_id": [], "def": "A lack of bone mineralization of the vertebral bodies.", "synonym": [], "xref": [ "UMLS:C1860191" ], "is_a": [ "HP:0004599" ], "is_obsolete": "", "replace_id": "" }, "HP:0004606": { "name": [ "unossified vertebral bodies", "unossified vertebral body" ], "alt_id": [ "HP:0008427" ], "def": "A lack of ossification of the vertebral bodies.", "synonym": [], "xref": [ "UMLS:C1860202" ], "is_a": [ "HP:0004599" ], "is_obsolete": "", "replace_id": "" }, "HP:0004607": { "name": [ "anterior beaking of lower thoracic vertebrae", "anterior beaking of low thoracic vertebra" ], "alt_id": [], "def": "Anterior tongue-like protrusions of the lower thoracic vertebral bodies.", "synonym": [], "xref": [ "UMLS:C4025306" ], "is_a": [ "HP:0004568" ], "is_obsolete": "", "replace_id": "" }, "HP:0004608": { "name": [ "anteriorly placed odontoid process", "anteriorly place odontoid process" ], "alt_id": [], "def": "Anterior mislocalization of the dens of the axis.", "synonym": [], "xref": [ "UMLS:C1844512" ], "is_a": [ "HP:0003310" ], "is_obsolete": "", "replace_id": "" }, "HP:0004609": { "name": [ "patchy distortion of vertebrae", "patchy distortion of vertebra" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025305" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0004610": { "name": [ "lumbar spinal canal stenosis", "lumbar spinal canal stenosis" ], "alt_id": [], "def": "An abnormal narrowing of the lumbar spinal canal.", "synonym": [ [ "lumbar spinal stenosis", "lumbar spinal stenosis" ], [ "narrow lumbar spinal canal", "narrow lumbar spinal canal" ] ], "xref": [ "SNOMEDCT_US:18347007", "UMLS:C0158288" ], "is_a": [ "HP:0003416" ], "is_obsolete": "", "replace_id": "" }, "HP:0004611": { "name": [ "anterior concavity of thoracic vertebrae", "anterior concavity of thoracic vertebra" ], "alt_id": [], "def": "", "synonym": [ [ "anteriorly concave vertebrae", "anteriorly concave vertebra" ] ], "xref": [ "UMLS:C1839822" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0004614": { "name": [ "spina bifida occulta at s1", "spina bifida occulta at s1" ], "alt_id": [], "def": "The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.", "synonym": [], "xref": [ "UMLS:C4025304" ], "is_a": [ "HP:0003298" ], "is_obsolete": "", "replace_id": "" }, "HP:0004616": { "name": [ "cleft vertebral arch", "cleft vertebral arch" ], "alt_id": [], "def": "A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra.", "synonym": [ [ "cleft vertebral arches", "cleft vertebral arch" ] ], "xref": [ "UMLS:C1859458" ], "is_a": [ "HP:0008438" ], "is_obsolete": "", "replace_id": "" }, "HP:0004617": { "name": [ "butterfly vertebral arch", "butterfly vertebral arch" ], "alt_id": [], "def": "Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends.", "synonym": [], "xref": [ "UMLS:C1861627" ], "is_a": [ "HP:0008438" ], "is_obsolete": "", "replace_id": "" }, "HP:0004618": { "name": [ "sandwich appearance of vertebral bodies", "sandwich appearance of vertebral body" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850134" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0004619": { "name": [ "lumbar kyphoscoliosis", "lumbar kyphoscoliosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1834953" ], "is_a": [ "HP:0002751", "HP:0004626", "HP:0008454" ], "is_obsolete": "", "replace_id": "" }, "HP:0004621": { "name": [ "enlarged vertebral pedicles", "enlarged vertebral pedicle" ], "alt_id": [], "def": "Increased size of the vertebral pedicle.", "synonym": [ [ "hyperplastic vertebral pedicles", "hyperplastic vertebral pedicle" ] ], "xref": [ "UMLS:C4025303" ], "is_a": [ "HP:0030277" ], "is_obsolete": "", "replace_id": "" }, "HP:0004622": { "name": [ "progressive intervertebral space narrowing", "progressive intervertebral space narrowing" ], "alt_id": [], "def": "A progressive form of decreased height of the intervertebral disk.", "synonym": [], "xref": [ "UMLS:C1837670" ], "is_a": [ "HP:0002945" ], "is_obsolete": "", "replace_id": "" }, "HP:0004625": { "name": [ "biconvex vertebral bodies", "biconvex vertebral body" ], "alt_id": [], "def": "Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates.", "synonym": [], "xref": [ "UMLS:C1866675" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0004626": { "name": [ "lumbar scoliosis", "lumbar scoliosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C2748518" ], "is_a": [ "HP:0002944" ], "is_obsolete": "", "replace_id": "" }, "HP:0004629": { "name": [ "small cervical vertebral bodies", "small cervical vertebral body" ], "alt_id": [ "HP:0008429" ], "def": "Reduced size of cervical vertebrae.", "synonym": [ [ "small cervical vertebrae", "small cervical vertebra" ] ], "xref": [ "UMLS:C1851130" ], "is_a": [ "HP:0008479" ], "is_obsolete": "", "replace_id": "" }, "HP:0004630": { "name": [ "anterior beaking of thoracic vertebrae", "anterior beaking of thoracic vertebra" ], "alt_id": [], "def": "Anterior tongue-like protrusions of thoracic vertebral bodies.", "synonym": [], "xref": [ "UMLS:C4025302" ], "is_a": [ "HP:0004568" ], "is_obsolete": "", "replace_id": "" }, "HP:0004631": { "name": [ "decreased cervical spine flexion due to contractures of posterior cervical muscles", "decreased cervical spine flexion due to contracture of posterior cervical muscle" ], "alt_id": [], "def": "", "synonym": [ [ "contracture of post - cervical muscles", "contracture of post - cervical muscle" ], [ "inability to touch chin to chest", "inability to touch chin to chest" ] ], "xref": [ "UMLS:C1839653", "UMLS:C4280512" ], "is_a": [ "HP:0001371" ], "is_obsolete": "", "replace_id": "" }, "HP:0004632": { "name": [ "cervical segmentation defect", "cervical segmentation defect" ], "alt_id": [ "HP:0004612" ], "def": "An abnormality related to a defect of vertebral separation of cervical vertebrae during development.", "synonym": [ [ "cervical spine segmentation defect", "cervical spine segmentation defect" ] ], "xref": [ "UMLS:C1862415" ], "is_a": [ "HP:0003422" ], "is_obsolete": "", "replace_id": "" }, "HP:0004633": { "name": [ "lower thoracic kyphosis", "low thoracic kyphosis" ], "alt_id": [], "def": "Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.", "synonym": [ [ "round mid - back", "round mid - back" ] ], "xref": [ "UMLS:C1864361" ], "is_a": [ "HP:0002942" ], "is_obsolete": "", "replace_id": "" }, "HP:0004634": { "name": [ "cuboid - shaped vertebral bodies", "cuboid - shaped vertebral body" ], "alt_id": [], "def": "", "synonym": [ [ "cuboid vertebral bodies", "cuboid vertebral body" ] ], "xref": [ "UMLS:C2673653" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0004635": { "name": [ "cervical c5 / c6 vertebrae fusion", "cervical c5 / c6 vertebra fusion" ], "alt_id": [], "def": "Fusion of the C5 and C6 cervical vertebrae.", "synonym": [], "xref": [ "UMLS:C4025301" ], "is_a": [ "HP:0002949" ], "is_obsolete": "", "replace_id": "" }, "HP:0004637": { "name": [ "decreased cervical spine mobility", "decreased cervical spine mobility" ], "alt_id": [], "def": "", "synonym": [ [ "limited neck movement", "limited neck movement" ] ], "xref": [ "UMLS:C1859692" ], "is_a": [ "HP:0003319" ], "is_obsolete": "", "replace_id": "" }, "HP:0004639": { "name": [ "elevated amniotic fluid alpha - fetoprotein", "elevate amniotic fluid alpha - fetoprotein" ], "alt_id": [ "HP:0005985" ], "def": "An elevation of alpha-feto protein measured in the amniotic fluid.", "synonym": [ [ "elevated amniotic fluid alpha fetal protein", "elevate amniotic fluid alpha fetal protein" ], [ "elevated amniotic fluid alpha foetal protein", "elevate amniotic fluid alpha foetal protein" ], [ "elevated amniotic fluid alpha - 1 - fetoprotein", "elevate amniotic fluid alpha - 1 - fetoprotein" ], [ "elevated amniotic fluid alpha - fetoglobulin", "elevate amniotic fluid alpha - fetoglobulin" ] ], "xref": [ "UMLS:C1839860" ], "is_a": [ "HP:0006254" ], "is_obsolete": "", "replace_id": "" }, "HP:0004646": { "name": [ "hypoplasia of the nasal bone", "hypoplasia of the nasal bone" ], "alt_id": [], "def": "Underdevelopment of the nasal bone.", "synonym": [ [ "decreased size of nasal bone", "decreased size of nasal bone" ], [ "deficiency of nasal bone", "deficiency of nasal bone" ], [ "hypotrophic nasal bone", "hypotrophic nasal bone" ], [ "nasal bone hypoplasia", "nasal bone hypoplasia" ], [ "small nasal bone", "small nasal bone" ], [ "underdevelopment of nasal bone", "underdevelopment of nasal bone" ] ], "xref": [ "UMLS:C4021651" ], "is_a": [ "HP:0009924", "HP:0010940" ], "is_obsolete": "", "replace_id": "" }, "HP:0004660": { "name": [ "hypoplasia of facial musculature", "hypoplasia of facial musculature" ], "alt_id": [], "def": "Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).", "synonym": [ [ "atrophy of facial musculature", "atrophy of facial musculature" ], [ "decreased size of facial muscles", "decreased size of facial muscle" ], [ "deficiency of facial musculature", "deficiency of facial musculature" ], [ "hypotrophic facial musculature", "hypotrophic facial musculature" ], [ "small facial muscles", "small facial muscle" ], [ "underdevelopment of facial muscles", "underdevelopment of facial muscle" ] ], "xref": [ "UMLS:C1834042", "UMLS:C4280509", "UMLS:C4280510", "UMLS:C4280511" ], "is_a": [ "HP:0000301" ], "is_obsolete": "", "replace_id": "" }, "HP:0004661": { "name": [ "frontalis muscle weakness", "frontalis muscle weakness" ], "alt_id": [], "def": "Reduced strength of the frontalis muscle (which is located on the forehead).", "synonym": [ [ "weak frontalis muscle", "weak frontalis muscle" ], [ "weakness of forehead muscle", "weakness of forehead muscle" ] ], "xref": [ "UMLS:C1859438" ], "is_a": [ "HP:0010628", "HP:3000004" ], "is_obsolete": "", "replace_id": "" }, "HP:0004664": { "name": [ "facial midline hemangioma", "facial midline hemangioma" ], "alt_id": [], "def": "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.", "synonym": [], "xref": [ "UMLS:C1862496" ], "is_a": [ "HP:0000329" ], "is_obsolete": "", "replace_id": "" }, "HP:0004673": { "name": [ "decreased facial expression", "decrease facial expression" ], "alt_id": [], "def": "A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.", "synonym": [ [ "decreased facial expression", "decrease facial expression" ] ], "xref": [ "UMLS:C1862474" ], "is_a": [ "HP:0005346" ], "is_obsolete": "", "replace_id": "" }, "HP:0004676": { "name": [ "prominent supraorbital arches in adult", "prominent supraorbital arch in adult" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1834993" ], "is_a": [ "HP:0000336" ], "is_obsolete": "", "replace_id": "" }, "HP:0004679": { "name": [ "large tarsal bones", "large tarsal bone" ], "alt_id": [], "def": "", "synonym": [ [ "large ankle bones", "large ankle bone" ] ], "xref": [ "UMLS:C1859116" ], "is_a": [ "HP:0001850" ], "is_obsolete": "", "replace_id": "" }, "HP:0004681": { "name": [ "deep longitudinal plantar crease", "deep longitudinal plantar crease" ], "alt_id": [], "def": "Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.", "synonym": [ [ "foot crease", "foot crease" ], [ "longitudinal groove on soles", "longitudinal groove on sol" ] ], "xref": [ "UMLS:C1859223", "UMLS:C4280508" ], "is_a": [ "HP:0001869" ], "is_obsolete": "", "replace_id": "" }, "HP:0004684": { "name": [ "talipes valgus", "talipes valgus" ], "alt_id": [], "def": "Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.", "synonym": [], "xref": [ "SNOMEDCT_US:79807003", "UMLS:C0152236" ], "is_a": [ "HP:0003028" ], "is_obsolete": "", "replace_id": "" }, "HP:0004686": { "name": [ "short third metatarsal", "short third metatarsal" ], "alt_id": [ "HP:0010673" ], "def": "Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.", "synonym": [ [ "hypoplasia of the 3rd metatarsal bone", "hypoplasia of the 3rd metatarsal bone" ], [ "short 3rd long bone of foot", "short 3rd long bone of foot" ] ], "xref": [ "UMLS:C4021650" ], "is_a": [ "HP:0010672", "HP:0010743" ], "is_obsolete": "", "replace_id": "" }, "HP:0004688": { "name": [ "irregular tarsal bones", "irregular tarsal bone" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal shape of ankle bones", "abnormal shape of ankle bone" ] ], "xref": [ "UMLS:C1855240" ], "is_a": [ "HP:0001850" ], "is_obsolete": "", "replace_id": "" }, "HP:0004689": { "name": [ "short fourth metatarsal", "short fourth metatarsal" ], "alt_id": [], "def": "Short fourth metatarsal bone.", "synonym": [ [ "bilateral fourth metatarsal shortening", "bilateral fourth metatarsal shorten" ], [ "short 4th long bone of foot", "short 4th long bone of foot" ], [ "short fourth metatarsals", "short fourth metatarsal" ], [ "short fourth metatarsus", "short fourth metatarsus" ] ], "xref": [ "UMLS:C1848514" ], "is_a": [ "HP:0010743", "HP:0040035" ], "is_obsolete": "", "replace_id": "" }, "HP:0004690": { "name": [ "thickened achilles tendon", "thicken achilles tendon" ], "alt_id": [], "def": "An abnormal thickening of the Achilles tendon.", "synonym": [ [ "thickened achilles tendon", "thicken achilles tendon" ] ], "xref": [ "UMLS:C0919997" ], "is_a": [ "HP:0005109" ], "is_obsolete": "", "replace_id": "" }, "HP:0004691": { "name": [ "2 - 3 toe syndactyly", "2 - 3 toe syndactyly" ], "alt_id": [ "HP:0001846", "HP:0001856", "HP:0003773", "HP:0004683", "HP:0004685", "HP:0004697", "HP:0004703", "HP:0008086", "HP:0008123" ], "def": "Syndactyly with fusion of toes two and three.", "synonym": [ [ "2 - 3 syndactyly of feet", "2 - 3 syndactyly of foot" ], [ "2 - 3 toe soft tissue syndactyly", "2 - 3 toe soft tissue syndactyly" ], [ "2 - 3 toes syndactyly", "2 - 3 toe syndactyly" ], [ "partial or complete syndactyly 2nd - 3rd toes", "partial or complete syndactyly 2nd - 3rd toe" ], [ "syndactyly of second and third toes", "syndactyly of second and third toe" ], [ "toe syndactyly , 2 - 3", "toe syndactyly , 2 - 3" ], [ "webbed 2nd and 3rd toes", "web 2nd and 3rd toe" ] ], "xref": [ "SNOMEDCT_US:205145001", "UMLS:C0432040" ], "is_a": [ "HP:0001770" ], "is_obsolete": "", "replace_id": "" }, "HP:0004692": { "name": [ "4 - 5 toe syndactyly", "4 - 5 toe syndactyly" ], "alt_id": [ "HP:0005826", "HP:0005861" ], "def": "Syndactyly with fusion of toes four and five.", "synonym": [ [ "symmetric syndactyly , toes 4 and 5", "symmetric syndactyly , toe 4 and 5" ], [ "syndactyly of toes 4 and 5", "syndactyly of toe 4 and 5" ], [ "webbed 4th - 5th toes", "web 4th - 5th toe" ] ], "xref": [ "UMLS:C1837836" ], "is_a": [ "HP:0001770" ], "is_obsolete": "", "replace_id": "" }, "HP:0004695": { "name": [ "calcaneal epiphyseal stippling", "calcaneal epiphyseal stipple" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus.", "synonym": [], "xref": [ "UMLS:C1861708" ], "is_a": [ "HP:0010655" ], "is_obsolete": "", "replace_id": "" }, "HP:0004696": { "name": [ "talipes cavus equinovarus", "talipes cavus equinovarus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1832342" ], "is_a": [ "HP:0001762" ], "is_obsolete": "", "replace_id": "" }, "HP:0004699": { "name": [ "osteoporotic metatarsal", "osteoporotic metatarsal" ], "alt_id": [], "def": "Decrease in mass and density of the metatarsal bones.", "synonym": [], "xref": [ "UMLS:C1836873" ], "is_a": [ "HP:0001832" ], "is_obsolete": "", "replace_id": "" }, "HP:0004704": { "name": [ "short fifth metatarsal", "short fifth metatarsal" ], "alt_id": [ "HP:0004702", "HP:0010671" ], "def": "Short (hypoplastic) fifth metatarsal bone.", "synonym": [ [ "hypoplasia of the fifth metatarsal bone", "hypoplasia of the fifth metatarsal bone" ], [ "short 5th long bone of foot", "short 5th long bone of foot" ] ], "xref": [ "UMLS:C4021649" ], "is_a": [ "HP:0008089", "HP:0010743" ], "is_obsolete": "", "replace_id": "" }, "HP:0004712": { "name": [ "renal malrotation", "renal malrotation" ], "alt_id": [ "HP:0004730" ], "def": "An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.", "synonym": [ [ "abnormal rotation of the kidneys", "abnormal rotation of the kidney" ], [ "malrotation of the kidney", "malrotation of the kidney" ] ], "xref": [ "SNOMEDCT_US:49008000", "UMLS:C0238210" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0004713": { "name": [ "reversible renal failure", "reversible renal failure" ], "alt_id": [], "def": "Acute renal failure with resolution of manifestations.", "synonym": [ [ "reversible kidney failure", "reversible kidney failure" ], [ "reversible renal failure", "reversible renal failure" ] ], "xref": [ "UMLS:C1843276" ], "is_a": [ "HP:0000083" ], "is_obsolete": "", "replace_id": "" }, "HP:0004717": { "name": [ "axial malrotation of the kidney", "axial malrotation of the kidney" ], "alt_id": [], "def": "An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.", "synonym": [], "xref": [ "UMLS:C4025300" ], "is_a": [ "HP:0004712" ], "is_obsolete": "", "replace_id": "" }, "HP:0004719": { "name": [ "hyperechogenic kidneys", "hyperechogenic kidney" ], "alt_id": [], "def": "An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.", "synonym": [ [ "echogenic kidneys", "echogenic kidney" ], [ "increased echogenicity of the renal parenchyma", "increase echogenicity of the renal parenchyma" ] ], "xref": [ "UMLS:C3275899" ], "is_a": [ "HP:0033130" ], "is_obsolete": "", "replace_id": "" }, "HP:0004722": { "name": [ "thickened glomerular basement membrane", "thicken glomerular basement membrane" ], "alt_id": [], "def": "Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.", "synonym": [], "xref": [ "SNOMEDCT_US:264932002", "UMLS:C0445347" ], "is_a": [ "HP:0033282" ], "is_obsolete": "", "replace_id": "" }, "HP:0004724": { "name": [ "calcium nephrolithiasis", "calcium nephrolithiasis" ], "alt_id": [], "def": "The presence of calcium-containing calculi (stones) in the kidneys.", "synonym": [ [ "ca kidney stone", "ca kidney stone" ], [ "ca nephrolithiasis", "ca nephrolithiasis" ], [ "ca2+ kidney stone", "ca2+ kidney stone" ], [ "ca2+ nephrolithiasis", "ca2+ nephrolithiasis" ], [ "calcium kidney stone", "calcium kidney stone" ] ], "xref": [ "UMLS:C1855801" ], "is_a": [ "HP:0000787" ], "is_obsolete": "", "replace_id": "" }, "HP:0004727": { "name": [ "impaired renal concentrating ability", "impaired renal concentrating ability" ], "alt_id": [ "HP:0005568" ], "def": "A defect in the ability to concentrate the urine.", "synonym": [ [ "urine concentrating defect", "urine concentrating defect" ], [ "urine concentration defect", "urine concentration defect" ] ], "xref": [ "UMLS:C1859819" ], "is_a": [ "HP:0011038" ], "is_obsolete": "", "replace_id": "" }, "HP:0004729": { "name": [ "acute tubulointerstitial nephritis", "acute tubulointerstitial nephritis" ], "alt_id": [], "def": "Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.", "synonym": [], "xref": [ "MSH:C564356", "UMLS:C1843274" ], "is_a": [ "HP:0001970" ], "is_obsolete": "", "replace_id": "" }, "HP:0004732": { "name": [ "impaired renal uric acid clearance", "impaired renal uric acid clearance" ], "alt_id": [], "def": "A reduction in the ability of the kidneys to remove uric acid from the serum.", "synonym": [], "xref": [ "UMLS:C1969371" ], "is_a": [ "HP:0011036" ], "is_obsolete": "", "replace_id": "" }, "HP:0004734": { "name": [ "renal cortical microcysts", "renal cortical microcysts" ], "alt_id": [ "HP:0000814" ], "def": "Cysts of microscopic size confined to the cortex of the kidney.", "synonym": [ [ "cortical microcysts", "cortical microcysts" ], [ "multiple renal cortical microcysts", "multiple renal cortical microcysts" ], [ "multiple small renal cortical cysts", "multiple small renal cortical cyst" ] ], "xref": [ "UMLS:C1865877" ], "is_a": [ "HP:0000803" ], "is_obsolete": "", "replace_id": "" }, "HP:0004736": { "name": [ "crossed fused renal ectopia", "cross fused renal ectopia" ], "alt_id": [], "def": "A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.", "synonym": [ [ "ectopic kidney with fusion", "ectopic kidney with fusion" ] ], "xref": [ "UMLS:C1835796" ], "is_a": [ "HP:0000086" ], "is_obsolete": "", "replace_id": "" }, "HP:0004737": { "name": [ "global glomerulosclerosis", "global glomerulosclerosis" ], "alt_id": [], "def": "Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%.", "synonym": [], "xref": [ "UMLS:C1865276" ], "is_a": [ "HP:0000096" ], "is_obsolete": "", "replace_id": "" }, "HP:0004742": { "name": [ "abnormal renal collecting system morphology", "abnormal renal collecting system morphology" ], "alt_id": [ "HP:0004731" ], "def": "An abnormality of the renal collecting system.", "synonym": [ [ "abnormal collecting system", "abnormal collecting system" ], [ "abnormality of the renal collecting system", "abnormality of the renal collecting system" ], [ "renal collecting system anomalies", "renal collecting system anomaly" ] ], "xref": [ "UMLS:C1851303" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0004743": { "name": [ "chronic tubulointerstitial nephritis", "chronic tubulointerstitial nephritis" ], "alt_id": [], "def": "Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.", "synonym": [], "xref": [ "SNOMEDCT_US:60926001", "UMLS:C0238304" ], "is_a": [ "HP:0001970" ], "is_obsolete": "", "replace_id": "" }, "HP:0004746": { "name": [ "glomerular subendothelial electron - dense deposits", "glomerular subendothelial electron - dense deposit" ], "alt_id": [], "def": "Electron dense deposits at the glomerular basement membrane,", "synonym": [ [ "dense deposit disease", "dense deposit disease" ], [ "membranoproliferative glomerulonephritis type ii", "membranoproliferative glomerulonephritis type ii" ] ], "xref": [ "MSH:D015432", "SNOMEDCT_US:59479006", "UMLS:C0268743" ], "is_a": [ "HP:0030949" ], "is_obsolete": "", "replace_id": "" }, "HP:0004749": { "name": [ "atrial flutter", "atrial flutter" ], "alt_id": [], "def": "A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.", "synonym": [], "xref": [ "MSH:D001282", "SNOMEDCT_US:5370000", "UMLS:C0004239" ], "is_a": [ "HP:0001692" ], "is_obsolete": "", "replace_id": "" }, "HP:0004751": { "name": [ "paroxysmal ventricular tachycardia", "paroxysmal ventricular tachycardia" ], "alt_id": [ "HP:0005141" ], "def": "Episodes of ventricular tachycardia that have a sudden onset and ending.", "synonym": [ [ "episodes of ventricular tachycardia", "episode of ventricular tachycardia" ] ], "xref": [ "SNOMEDCT_US:66657009", "UMLS:C0030591" ], "is_a": [ "HP:0004756" ], "is_obsolete": "", "replace_id": "" }, "HP:0004752": { "name": [ "congenital atrioventricular dissociation", "congenital atrioventricular dissociation" ], "alt_id": [], "def": "A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset.", "synonym": [], "xref": [ "UMLS:C4025299" ], "is_a": [ "HP:0011709" ], "is_obsolete": "", "replace_id": "" }, "HP:0004754": { "name": [ "permanent atrial fibrillation", "permanent atrial fibrillation" ], "alt_id": [], "def": "Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.", "synonym": [ [ "chronic atrial fibrillation", "chronic atrial fibrillation" ] ], "xref": [ "SNOMEDCT_US:426749004", "SNOMEDCT_US:440028005", "UMLS:C0694539", "UMLS:C2586056" ], "is_a": [ "HP:0005110" ], "is_obsolete": "", "replace_id": "" }, "HP:0004755": { "name": [ "supraventricular tachycardia", "supraventricular tachycardia" ], "alt_id": [], "def": "Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.", "synonym": [ [ "supraventricular tachyarrhythmia", "supraventricular tachyarrhythmia" ] ], "xref": [ "MSH:D013617", "SNOMEDCT_US:6456007", "UMLS:C0039240", "UMLS:C1698480" ], "is_a": [ "HP:0001649", "HP:0005115" ], "is_obsolete": "", "replace_id": "" }, "HP:0004756": { "name": [ "ventricular tachycardia", "ventricular tachycardia" ], "alt_id": [], "def": "A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).", "synonym": [], "xref": [ "Fyler:7160", "MSH:D017180", "SNOMEDCT_US:25569003", "UMLS:C0042514" ], "is_a": [ "HP:0001649" ], "is_obsolete": "", "replace_id": "" }, "HP:0004757": { "name": [ "paroxysmal atrial fibrillation", "paroxysmal atrial fibrillation" ], "alt_id": [], "def": "Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.", "synonym": [ [ "atrial fibrillation , paroxysmal", "atrial fibrillation , paroxysmal" ], [ "intermittent atrial fibrillation", "intermittent atrial fibrillation" ], [ "paroxysmal af", "paroxysmal af" ] ], "xref": [ "MSH:D001281", "SNOMEDCT_US:282825002", "UMLS:C0235480" ], "is_a": [ "HP:0005110" ], "is_obsolete": "", "replace_id": "" }, "HP:0004758": { "name": [ "effort - induced polymorphic ventricular tachycardia", "effort - induced polymorphic ventricular tachycardia" ], "alt_id": [], "def": "Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.", "synonym": [ [ "catecholaminergic polymorphic ventricular tachycardia", "catecholaminergic polymorphic ventricular tachycardia" ], [ "exercise - induced polymorphic ventricular tachycardia", "exercise - induced polymorphic ventricular tachycardia" ] ], "xref": [ "UMLS:C4025298" ], "is_a": [ "HP:0004756" ], "is_obsolete": "", "replace_id": "" }, "HP:0004759": { "name": [ "obsolete nodular calcific aortic valve disease", "obsolete nodular calcific aortic valve disease" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004760": { "name": [ "obsolete congenital septal defect", "obsolete congenital septal defect" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0004761": { "name": [ "post - angioplasty coronary artery restenosis", "post - angioplasty coronary artery restenosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C2676505" ], "is_a": [ "HP:0001677" ], "is_obsolete": "", "replace_id": "" }, "HP:0004762": { "name": [ "hypoplasia of right ventricle", "hypoplasia of right ventricle" ], "alt_id": [ "HP:0004951" ], "def": "Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.", "synonym": [ [ "heart right ventricle hypoplasia", "heart right ventricle hypoplasia" ], [ "small right heart chamber", "small right heart chamber" ], [ "underdeveloped right heart chamber", "underdeveloped right heart chamber" ] ], "xref": [ "Fyler:1821", "UMLS:C4082954" ], "is_a": [ "HP:0001707" ], "is_obsolete": "", "replace_id": "" }, "HP:0004763": { "name": [ "paroxysmal supraventricular tachycardia", "paroxysmal supraventricular tachycardia" ], "alt_id": [ "HP:0004765" ], "def": "An episodic form of supraventricular tachycardia with abrupt onset and termination.", "synonym": [ [ "episodic rapid heart beat", "episodic rapid heart beat" ], [ "episodic supraventricular tachycardia", "episodic supraventricular tachycardia" ] ], "xref": [ "SNOMEDCT_US:67198005", "UMLS:C0030590", "UMLS:C4280507" ], "is_a": [ "HP:0004755" ], "is_obsolete": "", "replace_id": "" }, "HP:0004764": { "name": [ "myxomatous mitral valve degeneration", "myxomatous mitral valve degeneration" ], "alt_id": [], "def": "Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view.", "synonym": [], "xref": [ "SNOMEDCT_US:253395003", "SNOMEDCT_US:42069006", "UMLS:C0264885" ], "is_a": [ "HP:0001634" ], "is_obsolete": "", "replace_id": "" }, "HP:0004768": { "name": [ "sparse anterior scalp hair", "sparse anterior scalp hair" ], "alt_id": [], "def": "Decreased number of head hairs per unit area on the anterior region of the scalp.", "synonym": [ [ "sparse scalp hair at front of head", "sparse scalp hair at front of head" ], [ "thin scalp hair at front of head", "thin scalp hair at front of head" ] ], "xref": [ "UMLS:C1866246" ], "is_a": [ "HP:0000599", "HP:0002209" ], "is_obsolete": "", "replace_id": "" }, "HP:0004771": { "name": [ "premature graying of body hair", "premature graying of body hair" ], "alt_id": [], "def": "", "synonym": [ [ "premature graying of body hair", "premature graying of body hair" ], [ "premature greying of body hair", "premature greying of body hair" ] ], "xref": [ "UMLS:C1849125" ], "is_a": [ "HP:0002216" ], "is_obsolete": "", "replace_id": "" }, "HP:0004779": { "name": [ "brittle scalp hair", "brittle scalp hair" ], "alt_id": [ "HP:0004776" ], "def": "Fragile, easily breakable scalp hair.", "synonym": [ [ "brittle scalp hair", "brittle scalp hair" ] ], "xref": [ "UMLS:C4025296" ], "is_a": [ "HP:0002299" ], "is_obsolete": "", "replace_id": "" }, "HP:0004780": { "name": [ "elbow hypertrichosis", "elbow hypertrichosis" ], "alt_id": [], "def": "Excessive, increased hair growth located in the elbow region.", "synonym": [ [ "hairy elbow", "hairy elbow" ], [ "hairy elbow syndrome", "hairy elbow syndrome" ], [ "hypertrichosis cubiti", "hypertrichosis cubiti" ], [ "pilosity of elbow", "pilosity of elbow" ] ], "xref": [ "UMLS:C4025295" ], "is_a": [ "HP:0000998" ], "is_obsolete": "", "replace_id": "" }, "HP:0004782": { "name": [ "obsolete hypotrichosis of the scalp", "obsolete hypotrichosis of the scalp" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0002209" }, "HP:0004783": { "name": [ "duodenal polyposis", "duodenal polyposis" ], "alt_id": [], "def": "Presence of multiple polyps in the duodenum.", "synonym": [ [ "multiple duodenal polyps", "multiple duodenal polyp" ] ], "xref": [ "SNOMEDCT_US:301797007", "UMLS:C0578477" ], "is_a": [ "HP:0030256" ], "is_obsolete": "", "replace_id": "" }, "HP:0004784": { "name": [ "juvenile gastrointestinal polyposis", "juvenile gastrointestinal polyposis" ], "alt_id": [], "def": "The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.", "synonym": [ [ "juvenile gi polyposis", "juvenile gi polyposis" ] ], "xref": [ "UMLS:C4025294" ], "is_a": [ "HP:0004390" ], "is_obsolete": "", "replace_id": "" }, "HP:0004785": { "name": [ "malrotation of colon", "malrotation of colon" ], "alt_id": [], "def": "An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.", "synonym": [], "xref": [ "SNOMEDCT_US:6477005", "UMLS:C0266196" ], "is_a": [ "HP:0002250", "HP:0002566" ], "is_obsolete": "", "replace_id": "" }, "HP:0004786": { "name": [ "jejunal diverticula", "jejunal diverticulum" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025293" ], "is_a": [ "HP:0002256" ], "is_obsolete": "", "replace_id": "" }, "HP:0004787": { "name": [ "fulminant hepatitis", "fulminant hepatitis" ], "alt_id": [], "def": "Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.", "synonym": [], "xref": [ "SNOMEDCT_US:427044009", "UMLS:C0302809" ], "is_a": [ "HP:0004448", "HP:0012115" ], "is_obsolete": "", "replace_id": "" }, "HP:0004788": { "name": [ "intestinal lymphedema", "intestinal lymphedema" ], "alt_id": [], "def": "Fluid retention and edema in the intestine caused by a compromised lymphatic system.", "synonym": [], "xref": [ "UMLS:C4025292" ], "is_a": [ "HP:0001004", "HP:0005225" ], "is_obsolete": "", "replace_id": "" }, "HP:0004789": { "name": [ "lactose intolerance", "lactose intolerance" ], "alt_id": [], "def": "An inability to digest lactose.", "synonym": [ [ "lactose intolerance", "lactose intolerance" ], [ "milk intolerance", "milk intolerance" ] ], "xref": [ "MSH:D007787", "SNOMEDCT_US:267425008", "SNOMEDCT_US:700094005", "UMLS:C0022951" ], "is_a": [ "HP:0002024" ], "is_obsolete": "", "replace_id": "" }, "HP:0004790": { "name": [ "hypoplasia of the small intestine", "hypoplasia of the small intestine" ], "alt_id": [], "def": "Underdevelopment of the small intestine.", "synonym": [ [ "underdeveloped small intestine", "underdeveloped small intestine" ] ], "xref": [ "UMLS:C4025291" ], "is_a": [ "HP:0002244", "HP:0005245" ], "is_obsolete": "", "replace_id": "" }, "HP:0004791": { "name": [ "esophageal ulceration", "esophageal ulceration" ], "alt_id": [], "def": "Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.", "synonym": [ [ "esophagus ulcer", "esophagus ulcer" ], [ "oesophagus ulcer", "oesophagus ulcer" ], [ "oesophagus ulceration", "oesophagus ulceration" ] ], "xref": [ "SNOMEDCT_US:30811009", "UMLS:C0151970" ], "is_a": [ "HP:0002031" ], "is_obsolete": "", "replace_id": "" }, "HP:0004792": { "name": [ "rectoperineal fistula", "rectoperineal fistula" ], "alt_id": [], "def": "The presence of a fistula between the perineum and the rectum.", "synonym": [], "xref": [ "UMLS:C0240880" ], "is_a": [ "HP:0004871", "HP:0100590" ], "is_obsolete": "", "replace_id": "" }, "HP:0004794": { "name": [ "malrotation of small bowel", "malrotation of small bowel" ], "alt_id": [], "def": "A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.", "synonym": [ [ "malrotation of the small intestine", "malrotation of the small intestine" ] ], "xref": [ "UMLS:C1860244" ], "is_a": [ "HP:0002244", "HP:0002566" ], "is_obsolete": "", "replace_id": "" }, "HP:0004795": { "name": [ "hamartomatous stomach polyps", "hamartomatous stomach polyp" ], "alt_id": [], "def": "Polyp-like protrusions which are histologically hamartomas located in the stomach.", "synonym": [], "xref": [ "UMLS:C1862304" ], "is_a": [ "HP:0004390", "HP:0006753" ], "is_obsolete": "", "replace_id": "" }, "HP:0004796": { "name": [ "gastrointestinal obstruction", "gastrointestinal obstruction" ], "alt_id": [], "def": "", "synonym": [ [ "gastrointestinal obstruction", "gastrointestinal obstruction" ], [ "gi obstruction", "gi obstruction" ], [ "obstruction in digestive tract", "obstruction in digestive tract" ] ], "xref": [ "SNOMEDCT_US:126765001", "UMLS:C0236124" ], "is_a": [ "HP:0012719" ], "is_obsolete": "", "replace_id": "" }, "HP:0004797": { "name": [ "multiple small bowel atresias", "multiple small bowel atresia" ], "alt_id": [], "def": "The presence of multiple areas of atresia affecting the small intestine.", "synonym": [], "xref": [ "UMLS:C1857476" ], "is_a": [ "HP:0011100" ], "is_obsolete": "", "replace_id": "" }, "HP:0004798": { "name": [ "recurrent infection of the gastrointestinal tract", "recurrent infection of the gastrointestinal tract" ], "alt_id": [], "def": "Recurrent infection of the gastrointestinal tract.", "synonym": [ [ "gastrointestinal infections", "gastrointestinal infection" ], [ "gastrointestinal infections , recurrent", "gastrointestinal infection , recurrent" ], [ "recurrent gastrointestinal infections", "recurrent gastrointestinal infection" ], [ "recurrent infection of the gastrointestinal tract", "recurrent infection of the gastrointestinal tract" ], [ "recurrent infection of the gi tract", "recurrent infection of the gi tract" ] ], "xref": [ "SNOMEDCT_US:715852004", "UMLS:C1854495", "UMLS:C4082764" ], "is_a": [ "HP:0002719", "HP:0012719" ], "is_obsolete": "", "replace_id": "" }, "HP:0004799": { "name": [ "jejunoileal diverticula", "jejunoileal diverticulum" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025290" ], "is_a": [ "HP:0002256" ], "is_obsolete": "", "replace_id": "" }, "HP:0004800": { "name": [ "duodenal diverticula", "duodenal diverticulum" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:197083003", "UMLS:C0341266" ], "is_a": [ "HP:0002256" ], "is_obsolete": "", "replace_id": "" }, "HP:0004802": { "name": [ "episodic hemolytic anemia", "episodic hemolytic anemia" ], "alt_id": [], "def": "A form of hemolytic anemia that occurs in repeated episodes.", "synonym": [ [ "episodic hemolysis", "episodic hemolysis" ], [ "episodic hemolytic anaemia", "episodic hemolytic anaemia" ] ], "xref": [ "UMLS:C1859495" ], "is_a": [ "HP:0001878" ], "is_obsolete": "", "replace_id": "" }, "HP:0004804": { "name": [ "congenital hemolytic anemia", "congenital hemolytic anemia" ], "alt_id": [ "HP:0004811", "HP:0004824" ], "def": "A form of hemolytic anemia with congenital onset.", "synonym": [ [ "congenital haemolytic anaemia", "congenital haemolytic anaemia" ], [ "congenital haemolytic anemia", "congenital haemolytic anemia" ], [ "congenital hemolytic anaemia", "congenital hemolytic anaemia" ], [ "neonatal hemolytic anaemia", "neonatal hemolytic anaemia" ], [ "neonatal hemolytic anemia", "neonatal hemolytic anemia" ] ], "xref": [ "MSH:D000745", "SNOMEDCT_US:38911009", "SNOMEDCT_US:42601008", "UMLS:C0002881", "UMLS:C4020827" ], "is_a": [ "HP:0001878" ], "is_obsolete": "", "replace_id": "" }, "HP:0004808": { "name": [ "acute myeloid leukemia", "acute myeloid leukemia" ], "alt_id": [ "HP:0001914", "HP:0004843", "HP:0005516", "HP:0006724", "HP:0006728" ], "def": "A form of leukemia characterized by overproduction of an early myeloid cell.", "synonym": [ [ "acute myeloblastic leukaemia", "acute myeloblastic leukaemia" ], [ "acute myeloblastic leukemia", "acute myeloblastic leukemia" ], [ "acute myelocytic leukaemia", "acute myelocytic leukaemia" ], [ "acute myelocytic leukemia", "acute myelocytic leukemia" ], [ "acute myelogenous leukaemia", "acute myelogenous leukaemia" ], [ "acute myelogenous leukemia", "acute myelogenous leukemia" ], [ "acute myeloid leukaemia", "acute myeloid leukaemia" ] ], "xref": [ "MSH:D015470", "SNOMEDCT_US:17788007", "SNOMEDCT_US:413443009", "SNOMEDCT_US:91861009", "UMLS:C0023467" ], "is_a": [ "HP:0002488" ], "is_obsolete": "", "replace_id": "" }, "HP:0004809": { "name": [ "neonatal alloimmune thrombocytopenia", "neonatal alloimmune thrombocytopenia" ], "alt_id": [], "def": "Low platelet count associated with maternal platelet-specific alloantibodies.", "synonym": [], "xref": [ "MSH:D054098", "SNOMEDCT_US:240305000", "UMLS:C3853779" ], "is_a": [ "HP:0001873" ], "is_obsolete": "", "replace_id": "" }, "HP:0004810": { "name": [ "congenital hypoplastic anemia", "congenital hypoplastic anemia" ], "alt_id": [ "HP:0005545" ], "def": "A type of hypoplastic anemia with congenital onset.", "synonym": [ [ "congenital dyserythropoietic anaemia", "congenital dyserythropoietic anaemia" ], [ "congenital dyserythropoietic anemia", "congenital dyserythropoietic anemia" ], [ "congenital hypoplastic anaemia", "congenital hypoplastic anaemia" ] ], "xref": [ "MSH:D000742", "MSH:D029503", "SNOMEDCT_US:234371002", "SNOMEDCT_US:52951008", "SNOMEDCT_US:88854002", "UMLS:C0002876", "UMLS:C1260899" ], "is_a": [ "HP:0001908" ], "is_obsolete": "", "replace_id": "" }, "HP:0004812": { "name": [ "b acute lymphoblastic leukemia", "b acute lymphoblastic leukemia" ], "alt_id": [], "def": "A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.", "synonym": [ [ "b acute lymphoblastic leukaemia", "b acute lymphoblastic leukaemia" ], [ "pre - b - cell acute lymphoblastic leukaemia", "pre - b - cell acute lymphoblastic leukaemia" ], [ "pre - b - cell acute lymphoblastic leukemia", "pre - b - cell acute lymphoblastic leukemia" ] ], "xref": [], "is_a": [ "HP:0006721" ], "is_obsolete": "", "replace_id": "" }, "HP:0004813": { "name": [ "post - transfusion thrombocytopenia", "post - transfusion thrombocytopenia" ], "alt_id": [], "def": "Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.", "synonym": [ [ "post - transfusion purpura", "post - transfusion purpura" ] ], "xref": [ "MSH:C562868", "SNOMEDCT_US:73162004", "UMLS:C0398648", "UMLS:C1868252" ], "is_a": [ "HP:0001873" ], "is_obsolete": "", "replace_id": "" }, "HP:0004814": { "name": [ "fava bean - induced hemolytic anemia", "fava bean - induce hemolytic anemia" ], "alt_id": [], "def": "A kind of hemolytic anemia that is induced by the ingestion of fava beans.", "synonym": [ [ "fava bean - induced hemolytic anaemia", "fava bean - induce hemolytic anaemia" ], [ "hemolytic anaemia following ingestion of fava beans", "hemolytic anaemia follow ingestion of fava bean" ], [ "hemolytic anemia following ingestion of fava beans", "hemolytic anemia follow ingestion of fava bean" ] ], "xref": [ "UMLS:C4021648" ], "is_a": [ "HP:0001878" ], "is_obsolete": "", "replace_id": "" }, "HP:0004817": { "name": [ "drug - sensitive hemolytic anemia", "drug - sensitive hemolytic anemia" ], "alt_id": [], "def": "A form of hemolytic anemia that is triggered by ingestion of certain drugs.", "synonym": [ [ "drug - sensitive hemolytic anaemia", "drug - sensitive hemolytic anaemia" ] ], "xref": [ "UMLS:C4025289" ], "is_a": [ "HP:0001878" ], "is_obsolete": "", "replace_id": "" }, "HP:0004818": { "name": [ "paroxysmal nocturnal hemoglobinuria", "paroxysmal nocturnal hemoglobinuria" ], "alt_id": [], "def": "", "synonym": [ [ "paroxysmal nocturnal haemoglobinuria", "paroxysmal nocturnal haemoglobinuria" ] ], "xref": [ "MSH:D006457", "SNOMEDCT_US:1963002", "UMLS:C0024790" ], "is_a": [ "HP:0003641" ], "is_obsolete": "", "replace_id": "" }, "HP:0004819": { "name": [ "normocytic hypoplastic anemia", "normocytic hypoplastic anemia" ], "alt_id": [], "def": "A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).", "synonym": [ [ "normocytic hypoplastic anaemia", "normocytic hypoplastic anaemia" ] ], "xref": [ "UMLS:C1835875" ], "is_a": [ "HP:0001908" ], "is_obsolete": "", "replace_id": "" }, "HP:0004820": { "name": [ "acute myelomonocytic leukemia", "acute myelomonocytic leukemia" ], "alt_id": [], "def": "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.", "synonym": [ [ "acute myelomonocytic leukaemia", "acute myelomonocytic leukaemia" ] ], "xref": [ "MSH:D015479", "SNOMEDCT_US:110005000", "SNOMEDCT_US:277601005", "SNOMEDCT_US:30962008", "UMLS:C0023479" ], "is_a": [ "HP:0002488", "HP:0012324" ], "is_obsolete": "", "replace_id": "" }, "HP:0004821": { "name": [ "hypersegmentation of neutrophil nuclei", "hypersegmentation of neutrophil nucleus" ], "alt_id": [], "def": "An excessive division of the lobes of the nucleus of a neutrophil.", "synonym": [ [ "hypermature neutrophils", "hypermature neutrophil" ], [ "hypersegmentation of neutrophil nuclei in peripheral blood", "hypersegmentation of neutrophil nucleus in peripheral blood" ] ], "xref": [ "UMLS:C4025288" ], "is_a": [ "HP:0011992" ], "is_obsolete": "", "replace_id": "" }, "HP:0004822": { "name": [ "atypical elliptocytosis", "atypical elliptocytosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C565598", "UMLS:C1857010" ], "is_a": [ "HP:0004445" ], "is_obsolete": "", "replace_id": "" }, "HP:0004823": { "name": [ "anisopoikilocytosis", "anisopoikilocytosis" ], "alt_id": [], "def": "A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.", "synonym": [], "xref": [ "UMLS:C2675920" ], "is_a": [ "HP:0004447" ], "is_obsolete": "", "replace_id": "" }, "HP:0004825": { "name": [ "increased hemoglobin oxygen affinity", "increase hemoglobin oxygen affinity" ], "alt_id": [], "def": "An abnormal increase in the binding affinity of hemoglobin for oxygen.", "synonym": [ [ "increased haemoglobin o2 affinity", "increase haemoglobin o2 affinity" ], [ "increased haemoglobin oxygen affinity", "increase haemoglobin oxygen affinity" ], [ "increased hb o2 affinity", "increase hb o2 affinity" ], [ "increased hb oxygen affinity", "increase hb oxygen affinity" ], [ "increased hemoglobin o2 affinity", "increase hemoglobin o2 affinity" ] ], "xref": [ "UMLS:C4021647" ], "is_a": [ "HP:0020054" ], "is_obsolete": "", "replace_id": "" }, "HP:0004826": { "name": [ "folate - unresponsive megaloblastic anemia", "folate - unresponsive megaloblastic anemia" ], "alt_id": [], "def": "A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.", "synonym": [ [ "folate - unresponsive megaloblastic anaemia", "folate - unresponsive megaloblastic anaemia" ] ], "xref": [ "UMLS:C4025287" ], "is_a": [ "HP:0001889" ], "is_obsolete": "", "replace_id": "" }, "HP:0004828": { "name": [ "refractory anemia with ringed sideroblasts", "refractory anemia with ringed sideroblast" ], "alt_id": [], "def": "A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts.", "synonym": [ [ "myelodysplasia with sideroblastosis", "myelodysplasia with sideroblastosis" ], [ "refractory anaemia with ringed sideroblasts", "refractory anaemia with ringed sideroblast" ] ], "xref": [ "ICD-O:M9982/3 \"Refractory anemia with ringed sideroblasts\"", "SNOMEDCT_US:109998009", "SNOMEDCT_US:128846006", "UMLS:C1264195" ], "is_a": [ "HP:0012150" ], "is_obsolete": "", "replace_id": "" }, "HP:0004831": { "name": [ "recurrent thromboembolism", "recurrent thromboembolism" ], "alt_id": [], "def": "Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.", "synonym": [ [ "recurrent thromboembolic disease", "recurrent thromboembolic disease" ] ], "xref": [ "UMLS:C0749398", "UMLS:C4025286" ], "is_a": [ "HP:0001907" ], "is_obsolete": "", "replace_id": "" }, "HP:0004835": { "name": [ "microspherocytosis", "microspherocytosis" ], "alt_id": [], "def": "The presence of erythrocytes that are sphere-shaped and reduced in size.", "synonym": [], "xref": [ "UMLS:C4025285" ], "is_a": [ "HP:0004444" ], "is_obsolete": "", "replace_id": "" }, "HP:0004836": { "name": [ "acute promyelocytic leukemia", "acute promyelocytic leukemia" ], "alt_id": [], "def": "A type of acute myeloid leukemia in which abnormal promyelocytes predominate.", "synonym": [ [ "acute promyelocytic leukaemia", "acute promyelocytic leukaemia" ] ], "xref": [ "MSH:D015473", "SNOMEDCT_US:110004001", "SNOMEDCT_US:28950004", "UMLS:C0023487" ], "is_a": [ "HP:0002488" ], "is_obsolete": "", "replace_id": "" }, "HP:0004839": { "name": [ "pyropoikilocytosis", "pyropoikilocytosis" ], "alt_id": [ "HP:0004805" ], "def": "A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn.", "synonym": [ [ "hereditary pyropoikilocytosis", "hereditary pyropoikilocytosis" ] ], "xref": [ "MSH:C563004", "SNOMEDCT_US:9434008", "UMLS:C0520739" ], "is_a": [ "HP:0004447" ], "is_obsolete": "", "replace_id": "" }, "HP:0004840": { "name": [ "hypochromic microcytic anemia", "hypochromic microcytic anemia" ], "alt_id": [ "HP:0004842" ], "def": "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.", "synonym": [ [ "hypochromic microcytic anaemia", "hypochromic microcytic anaemia" ], [ "hypochromic , microcytic anaemia", "hypochromic , microcytic anaemia" ], [ "hypochromic , microcytic anemia", "hypochromic , microcytic anemia" ] ], "xref": [ "MSH:C536357", "SNOMEDCT_US:44666001", "UMLS:C0271901" ], "is_a": [ "HP:0001931", "HP:0001935" ], "is_obsolete": "", "replace_id": "" }, "HP:0004841": { "name": [ "reduced factor xii activity", "reduce factor xii activity" ], "alt_id": [ "HP:0005514", "HP:0005551", "HP:0008286" ], "def": "Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.", "synonym": [ [ "factor xii deficiency", "factor xii deficiency" ], [ "hageman factor deficiency", "hageman factor deficiency" ] ], "xref": [ "MSH:D005175", "SNOMEDCT_US:46981006", "UMLS:C0015526" ], "is_a": [ "HP:0010989" ], "is_obsolete": "", "replace_id": "" }, "HP:0004844": { "name": [ "coombs - positive hemolytic anemia", "coombs - positive hemolytic anemia" ], "alt_id": [ "HP:0003539" ], "def": "A type of hemolytic anemia in which the Coombs test is positive.", "synonym": [ [ "coombs - positive hemolytic anaemia", "coombs - positive hemolytic anaemia" ], [ "direct coombs positive", "direct coombs positive" ] ], "xref": [ "SNOMEDCT_US:74789008", "UMLS:C0520736" ], "is_a": [ "HP:0001878" ], "is_obsolete": "", "replace_id": "" }, "HP:0004845": { "name": [ "acute monocytic leukemia", "acute monocytic leukemia" ], "alt_id": [ "HP:0004833" ], "def": "The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.", "synonym": [ [ "acute monoblastic leukaemia", "acute monoblastic leukaemia" ], [ "acute monoblastic leukemia", "acute monoblastic leukemia" ], [ "acute monocytic leukaemia", "acute monocytic leukaemia" ], [ "amol", "amol" ] ], "xref": [ "MSH:D007948", "SNOMEDCT_US:22331004", "SNOMEDCT_US:413441006", "UMLS:C0023465" ], "is_a": [ "HP:0002488" ], "is_obsolete": "", "replace_id": "" }, "HP:0004846": { "name": [ "prolonged bleeding after surgery", "prolong bleeding after surgery" ], "alt_id": [], "def": "Bleeding that persists longer than the normal time following a surgical procedure.", "synonym": [ [ "excessive bleeding during surgery", "excessive bleeding during surgery" ], [ "prolonged bleeding after surgery", "prolong bleeding after surgery" ], [ "protracted bleeding after surgery", "protract bleeding after surgery" ] ], "xref": [ "UMLS:C4021646" ], "is_a": [ "HP:0011890" ], "is_obsolete": "", "replace_id": "" }, "HP:0004848": { "name": [ "ph - positive acute lymphoblastic leukemia", "ph - positive acute lymphoblastic leukemia" ], "alt_id": [], "def": "A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.", "synonym": [ [ "ph - positive acute lymphoblastic leukaemia", "ph - positive acute lymphoblastic leukaemia" ], [ "philadelphia - positive acute lymphoblastic leukaemia", "philadelphia - positive acute lymphoblastic leukaemia" ], [ "philadelphia - positive acute lymphoblastic leukemia", "philadelphia - positive acute lymphoblastic leukemia" ] ], "xref": [ "SNOMEDCT_US:425688002", "SNOMEDCT_US:426955004", "UMLS:C1960397" ], "is_a": [ "HP:0006721" ], "is_obsolete": "", "replace_id": "" }, "HP:0004850": { "name": [ "recurrent deep vein thrombosis", "recurrent deep vein thrombosis" ], "alt_id": [], "def": "Repeated episodes of the formation of a blot clot in a deep vein.", "synonym": [ [ "recurrent deep vein blood clot", "recurrent deep vein blood clot" ], [ "recurrent venous thrombosis", "recurrent venous thrombosis" ] ], "xref": [ "SNOMEDCT_US:710167004", "UMLS:C1735901" ], "is_a": [ "HP:0002625" ], "is_obsolete": "", "replace_id": "" }, "HP:0004851": { "name": [ "folate - responsive megaloblastic anemia", "folate - responsive megaloblastic anemia" ], "alt_id": [], "def": "A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate.", "synonym": [ [ "folate - responsive megaloblastic anaemia", "folate - responsive megaloblastic anaemia" ] ], "xref": [ "UMLS:C2749656" ], "is_a": [ "HP:0001889" ], "is_obsolete": "", "replace_id": "" }, "HP:0004852": { "name": [ "reduced leukocyte alkaline phosphatase", "reduce leukocyte alkaline phosphatase" ], "alt_id": [], "def": "Decreased alkaline phosphatase measured within leukocytes.", "synonym": [ [ "low leukocyte alkaline phosphatase", "low leukocyte alkaline phosphatase" ], [ "reduced leukocyte alp", "reduce leukocyte alp" ] ], "xref": [ "UMLS:C1850780" ], "is_a": [ "HP:0003282" ], "is_obsolete": "", "replace_id": "" }, "HP:0004854": { "name": [ "intermittent thrombocytopenia", "intermittent thrombocytopenia" ], "alt_id": [], "def": "Reduced platelet count that occurs sporadically, i.e., it comes and goes.", "synonym": [], "xref": [ "UMLS:C1839167" ], "is_a": [ "HP:0001873" ], "is_obsolete": "", "replace_id": "" }, "HP:0004855": { "name": [ "reduced protein s activity", "reduce protein s activity" ], "alt_id": [], "def": "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.", "synonym": [ [ "protein s deficiency", "protein s deficiency" ] ], "xref": [ "MSH:D018455", "SNOMEDCT_US:1563006", "UMLS:C0242666", "UMLS:C4025284" ], "is_a": [ "HP:0030780" ], "is_obsolete": "", "replace_id": "" }, "HP:0004856": { "name": [ "normochromic microcytic anemia", "normochromic microcytic anemia" ], "alt_id": [], "def": "A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.", "synonym": [ [ "normochromic microcytic anaemia", "normochromic microcytic anaemia" ] ], "xref": [ "SNOMEDCT_US:4984008", "UMLS:C0271902" ], "is_a": [ "HP:0001935" ], "is_obsolete": "", "replace_id": "" }, "HP:0004857": { "name": [ "hyperchromic macrocytic anemia", "hyperchromic macrocytic anemia" ], "alt_id": [], "def": "A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin.", "synonym": [ [ "hyperchromic macrocytic anaemia", "hyperchromic macrocytic anaemia" ] ], "xref": [ "UMLS:C3854594" ], "is_a": [ "HP:0001972" ], "is_obsolete": "", "replace_id": "" }, "HP:0004859": { "name": [ "amegakaryocytic thrombocytopenia", "amegakaryocytic thrombocytopenia" ], "alt_id": [], "def": "Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.", "synonym": [], "xref": [ "SNOMEDCT_US:234482009", "UMLS:C0398639" ], "is_a": [ "HP:0001873" ], "is_obsolete": "", "replace_id": "" }, "HP:0004860": { "name": [ "thiamine - responsive megaloblastic anemia", "thiamine - responsive megaloblastic anemia" ], "alt_id": [], "def": "A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.", "synonym": [ [ "thiamine - responsive megaloblastic anaemia", "thiamine - responsive megaloblastic anaemia" ] ], "xref": [ "SNOMEDCT_US:12907000", "UMLS:C0271972" ], "is_a": [ "HP:0001889" ], "is_obsolete": "", "replace_id": "" }, "HP:0004861": { "name": [ "refractory macrocytic anemia", "refractory macrocytic anemia" ], "alt_id": [], "def": "", "synonym": [ [ "refractory macrocytic anaemia", "refractory macrocytic anaemia" ] ], "xref": [ "UMLS:C2675059" ], "is_a": [ "HP:0001972" ], "is_obsolete": "", "replace_id": "" }, "HP:0004863": { "name": [ "compensated hemolytic anemia", "compensate hemolytic anemia" ], "alt_id": [], "def": "", "synonym": [ [ "compensated hemolytic anaemia", "compensate hemolytic anaemia" ] ], "xref": [ "UMLS:C4025283" ], "is_a": [ "HP:0001878" ], "is_obsolete": "", "replace_id": "" }, "HP:0004864": { "name": [ "refractory sideroblastic anemia", "refractory sideroblastic anemia" ], "alt_id": [], "def": "A type of sideroblastic anemia that is not responsive to treatment.", "synonym": [ [ "refractory sideroblastic anaemia", "refractory sideroblastic anaemia" ] ], "xref": [ "MSH:D000756", "SNOMEDCT_US:41841004", "UMLS:C0002896" ], "is_a": [ "HP:0001924" ], "is_obsolete": "", "replace_id": "" }, "HP:0004866": { "name": [ "impaired adp - induced platelet aggregation", "impaired adp - induced platelet aggregation" ], "alt_id": [], "def": "Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.", "synonym": [], "xref": [ "UMLS:C4025282" ], "is_a": [ "HP:0003540" ], "is_obsolete": "", "replace_id": "" }, "HP:0004870": { "name": [ "chronic hemolytic anemia", "chronic hemolytic anemia" ], "alt_id": [ "HP:0004815" ], "def": "An chronic form of hemolytic anemia.", "synonym": [ [ "chronic hemolytic anaemia", "chronic hemolytic anaemia" ], [ "hemolytic anemia , chronic", "hemolytic anemia , chronic" ] ], "xref": [ "SNOMEDCT_US:707480001", "UMLS:C1387532" ], "is_a": [ "HP:0001878" ], "is_obsolete": "", "replace_id": "" }, "HP:0004871": { "name": [ "perineal fistula", "perineal fistula" ], "alt_id": [], "def": "The presence of a fistula between the bowel and the perineum.", "synonym": [], "xref": [ "SNOMEDCT_US:284077005", "UMLS:C0561921" ], "is_a": [ "HP:0100589" ], "is_obsolete": "", "replace_id": "" }, "HP:0004872": { "name": [ "incisional hernia", "incisional hernia" ], "alt_id": [], "def": "An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.", "synonym": [ [ "recurrent abdominal hernia", "recurrent abdominal hernia" ] ], "xref": [ "MSH:D000069290", "SNOMEDCT_US:236037000", "SNOMEDCT_US:241556001", "UMLS:C0267716", "UMLS:C4021645" ], "is_a": [ "HP:0004299" ], "is_obsolete": "", "replace_id": "" }, "HP:0004875": { "name": [ "neonatal inspiratory stridor", "neonatal inspiratory stridor" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025281" ], "is_a": [ "HP:0002643", "HP:0005348" ], "is_obsolete": "", "replace_id": "" }, "HP:0004876": { "name": [ "spontaneous neonatal pneumothorax", "spontaneous neonatal pneumothorax" ], "alt_id": [], "def": "Pneumothorax occurring neonatally without traumatic injury to the chest or lung.", "synonym": [ [ "neonatal pneumothorax", "neonatal pneumothorax" ] ], "xref": [ "UMLS:C1857021" ], "is_a": [ "HP:0002108" ], "is_obsolete": "", "replace_id": "" }, "HP:0004878": { "name": [ "intercostal muscle weakness", "intercostal muscle weakness" ], "alt_id": [], "def": "Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.", "synonym": [ [ "dependence on diaphragmatic breathing", "dependence on diaphragmatic breathing" ], [ "muscle weakness between ribs", "muscle weakness between rib" ] ], "xref": [ "UMLS:C0240017" ], "is_a": [ "HP:0000765", "HP:0001324", "HP:0002093" ], "is_obsolete": "", "replace_id": "" }, "HP:0004879": { "name": [ "intermittent hyperventilation", "intermittent hyperventilation" ], "alt_id": [], "def": "Episodic hyperventilation.", "synonym": [ [ "episodic hyperventilation", "episodic hyperventilation" ], [ "intermittent overbreathing", "intermittent overbreathing" ] ], "xref": [ "SNOMEDCT_US:423427003", "UMLS:C1828017" ], "is_a": [ "HP:0002883" ], "is_obsolete": "", "replace_id": "" }, "HP:0004880": { "name": [ "respiratory infections in early life", "respiratory infection in early life" ], "alt_id": [], "def": "Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.", "synonym": [], "xref": [ "UMLS:C4025280" ], "is_a": [ "HP:0002205" ], "is_obsolete": "", "replace_id": "" }, "HP:0004881": { "name": [ "episodic hypoventilation", "episodic hypoventilation" ], "alt_id": [], "def": "", "synonym": [ [ "episodic slow breathing", "episodic slow breathing" ], [ "episodic under breathing", "episodic under breathe" ] ], "xref": [ "UMLS:C1844946" ], "is_a": [ "HP:0002791" ], "is_obsolete": "", "replace_id": "" }, "HP:0004885": { "name": [ "episodic respiratory distress", "episodic respiratory distress" ], "alt_id": [], "def": "", "synonym": [ [ "episodic difficulty breathing", "episodic difficulty breathe" ], [ "respiratory distress , episodic", "respiratory distress , episodic" ] ], "xref": [ "UMLS:C1844945" ], "is_a": [ "HP:0002098" ], "is_obsolete": "", "replace_id": "" }, "HP:0004886": { "name": [ "congenital laryngeal stridor", "congenital laryngeal stridor" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:55490007", "UMLS:C0265763" ], "is_a": [ "HP:0005348" ], "is_obsolete": "", "replace_id": "" }, "HP:0004887": { "name": [ "respiratory failure requiring assisted ventilation", "respiratory failure require assist ventilation" ], "alt_id": [ "HP:0004883" ], "def": "A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.", "synonym": [ [ "respiratory distress necessitating mechanical ventilation", "respiratory distress necessitate mechanical ventilation" ], [ "respiratory distress requiring endotracheal intubation", "respiratory distress require endotracheal intubation" ], [ "respiratory distress requiring mechanical ventilation", "respiratory distress require mechanical ventilation" ] ], "xref": [ "UMLS:C4025279" ], "is_a": [ "HP:0002093" ], "is_obsolete": "", "replace_id": "" }, "HP:0004889": { "name": [ "intermittent episodes of respiratory insufficiency due to muscle weakness", "intermittent episode of respiratory insufficiency due to muscle weakness" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3807025" ], "is_a": [ "HP:0002747" ], "is_obsolete": "", "replace_id": "" }, "HP:0004890": { "name": [ "elevated pulmonary artery pressure", "elevate pulmonary artery pressure" ], "alt_id": [ "HP:0004958" ], "def": "An abnormally elevated blood pressure in the circulation of the pulmonary artery.", "synonym": [ [ "elevated lung artery pressure", "elevate lung artery pressure" ], [ "increased pulmonary artery pressure", "increase pulmonary artery pressure" ] ], "xref": [ "UMLS:C3805917" ], "is_a": [ "HP:0030875" ], "is_obsolete": "", "replace_id": "" }, "HP:0004891": { "name": [ "recurrent infections due to aspiration", "recurrent infection due to aspiration" ], "alt_id": [], "def": "Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.", "synonym": [], "xref": [ "UMLS:C3806285" ], "is_a": [ "HP:0002205" ], "is_obsolete": "", "replace_id": "" }, "HP:0004894": { "name": [ "laryngotracheal stenosis", "laryngotracheal stenosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3806280" ], "is_a": [ "HP:0001602", "HP:0002777" ], "is_obsolete": "", "replace_id": "" }, "HP:0004897": { "name": [ "stress / infection - induced lactic acidosis", "stress / infection - induced lactic acidosis" ], "alt_id": [], "def": "A form of lactic acidemia that occurs in relation to stress or infection.", "synonym": [ [ "metabolic crises during febrile infections", "metabolic crisis during febrile infection" ] ], "xref": [ "UMLS:C4025278" ], "is_a": [ "HP:0003128" ], "is_obsolete": "", "replace_id": "" }, "HP:0004898": { "name": [ "persistent lactic acidosis", "persistent lactic acidosis" ], "alt_id": [], "def": "A continuous form of lactic acidemia.", "synonym": [], "xref": [ "UMLS:C3554538" ], "is_a": [ "HP:0003128" ], "is_obsolete": "", "replace_id": "" }, "HP:0004900": { "name": [ "severe lactic acidosis", "severe lactic acidosis" ], "alt_id": [], "def": "A severe form of lactic acidemia.", "synonym": [], "xref": [ "UMLS:C1839436" ], "is_a": [ "HP:0003128" ], "is_obsolete": "", "replace_id": "" }, "HP:0004901": { "name": [ "exercise - induced lactic acidemia", "exercise - induced lactic acidemia" ], "alt_id": [], "def": "A form of lactic acidemia that occurs following exercise or exertion.", "synonym": [ [ "exercise - induced lactic acidosis", "exercise - induced lactic acidosis" ] ], "xref": [ "UMLS:C4025277" ], "is_a": [ "HP:0003128" ], "is_obsolete": "", "replace_id": "" }, "HP:0004902": { "name": [ "congenital lactic acidosis", "congenital lactic acidosis" ], "alt_id": [], "def": "A form of lactic acidemia with congenital onset.", "synonym": [], "xref": [ "UMLS:C4025276" ], "is_a": [ "HP:0003128" ], "is_obsolete": "", "replace_id": "" }, "HP:0004904": { "name": [ "maturity - onset diabetes of the young", "maturity - onset diabetes of the young" ], "alt_id": [], "def": "The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells.", "synonym": [ [ "maturity onset diabetes of the young", "maturity onset diabetes of the young" ] ], "xref": [ "MSH:C562772", "SNOMEDCT_US:609561005", "UMLS:C0342276" ], "is_a": [ "HP:0000819" ], "is_obsolete": "", "replace_id": "" }, "HP:0004905": { "name": [ "low levels of vitamin a", "low level of vitamin a" ], "alt_id": [], "def": "A reduced concentration of vitamin A.", "synonym": [ [ "vitamin a deficiency", "vitamin a deficiency" ] ], "xref": [ "MSH:D014802", "SNOMEDCT_US:72000004", "UMLS:C0042842" ], "is_a": [ "HP:0008372" ], "is_obsolete": "", "replace_id": "" }, "HP:0004906": { "name": [ "hypernatremic dehydration", "hypernatremic dehydration" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:427784006", "UMLS:C1850544" ], "is_a": [ "HP:0001986" ], "is_obsolete": "", "replace_id": "" }, "HP:0004909": { "name": [ "hypokalemic hypochloremic metabolic alkalosis", "hypokalemic hypochloremic metabolic alkalosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C0740896" ], "is_a": [ "HP:0001960", "HP:0005977" ], "is_obsolete": "", "replace_id": "" }, "HP:0004910": { "name": [ "bicarbonate - wasting renal tubular acidosis", "bicarbonate - waste renal tubular acidosis" ], "alt_id": [], "def": "", "synonym": [ [ "hco3 - wasting renal tubular acidosis", "hco3 - waste renal tubular acidosis" ], [ "renal bicarbonate wasting", "renal bicarbonate wasting" ] ], "xref": [ "UMLS:C1858626" ], "is_a": [ "HP:0001947" ], "is_obsolete": "", "replace_id": "" }, "HP:0004911": { "name": [ "episodic metabolic acidosis", "episodic metabolic acidosis" ], "alt_id": [ "HP:0005963" ], "def": "Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.", "synonym": [ [ "recurrent episodes of acidosis", "recurrent episode of acidosis" ] ], "xref": [ "UMLS:C1859516" ], "is_a": [ "HP:0001942" ], "is_obsolete": "", "replace_id": "" }, "HP:0004912": { "name": [ "hypophosphatemic rickets", "hypophosphatemic rickets" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D063730", "SNOMEDCT_US:66266003", "UMLS:C1704375" ], "is_a": [ "HP:0002148", "HP:0002748" ], "is_obsolete": "", "replace_id": "" }, "HP:0004913": { "name": [ "intermittent lactic acidemia", "intermittent lactic acidemia" ], "alt_id": [], "def": "An intermittent (discontinuous) form of lactic acidemia.", "synonym": [], "xref": [ "UMLS:C1844917" ], "is_a": [ "HP:0003128" ], "is_obsolete": "", "replace_id": "" }, "HP:0004914": { "name": [ "recurrent infantile hypoglycemia", "recurrent infantile hypoglycemia" ], "alt_id": [ "HP:0004917" ], "def": "Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.", "synonym": [ [ "episodic infantile hypoglycemia", "episodic infantile hypoglycemia" ], [ "recurrent low blood sugar in infant", "recurrent low blood sugar in infant" ] ], "xref": [ "UMLS:C4021644" ], "is_a": [ "HP:0001988" ], "is_obsolete": "", "replace_id": "" }, "HP:0004915": { "name": [ "impairment of galactose metabolism", "impairment of galactose metabolism" ], "alt_id": [], "def": "An impairment of galactose metabolism.", "synonym": [ [ "impaired galactose metabolism", "impaired galactose metabolism" ] ], "xref": [ "UMLS:C4021643" ], "is_a": [ "HP:0032245" ], "is_obsolete": "", "replace_id": "" }, "HP:0004916": { "name": [ "generalized distal tubular acidosis", "generalize distal tubular acidosis" ], "alt_id": [], "def": "", "synonym": [ [ "generalised distal tubular acidosis", "generalise distal tubular acidosis" ] ], "xref": [ "UMLS:C4025275" ], "is_a": [ "HP:0008341" ], "is_obsolete": "", "replace_id": "" }, "HP:0004918": { "name": [ "hyperchloremic metabolic acidosis", "hyperchloremic metabolic acidosis" ], "alt_id": [], "def": "A form of metabolic acidosis with increased serum chloride levels.", "synonym": [ [ "non - gap acidosis", "non - gap acidosis" ] ], "xref": [ "UMLS:C1969073" ], "is_a": [ "HP:0001942", "HP:0001995" ], "is_obsolete": "", "replace_id": "" }, "HP:0004919": { "name": [ "galactose intolerance", "galactose intolerance" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D005693", "SNOMEDCT_US:190745006", "SNOMEDCT_US:190749000", "UMLS:C0016952" ], "is_a": [ "HP:0004915" ], "is_obsolete": "", "replace_id": "" }, "HP:0004920": { "name": [ "phenylpyruvic acidemia", "phenylpyruvic acidemia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1849926" ], "is_a": [ "HP:0032368" ], "is_obsolete": "", "replace_id": "" }, "HP:0004921": { "name": [ "abnormal magnesium concentration", "abnormal magnesium concentration" ], "alt_id": [ "HP:0008274" ], "def": "An abnormality of magnesium ion homeostasis.", "synonym": [ [ "abnormal magnesium metabolism", "abnormal magnesium metabolism" ], [ "abnormal mg concentration", "abnormal mg concentration" ], [ "abnormality of magnesium homeostasis", "abnormality of magnesium homeostasis" ] ], "xref": [ "UMLS:C4020826", "UMLS:C4025274" ], "is_a": [ "HP:0010927" ], "is_obsolete": "", "replace_id": "" }, "HP:0004922": { "name": [ "atypical hyperphenylalaninemia", "atypical hyperphenylalaninemia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025273" ], "is_a": [ "HP:0010893" ], "is_obsolete": "", "replace_id": "" }, "HP:0004923": { "name": [ "hyperphenylalaninemia", "hyperphenylalaninemia" ], "alt_id": [], "def": "An increased concentration of L-phenylalanine in the blood.", "synonym": [], "xref": [ "MSH:D010661", "SNOMEDCT_US:68528007", "UMLS:C0751435" ], "is_a": [ "HP:0010893" ], "is_obsolete": "", "replace_id": "" }, "HP:0004924": { "name": [ "abnormal oral glucose tolerance", "abnormal oral glucose tolerance" ], "alt_id": [], "def": "An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.", "synonym": [ [ "abnormal glucose oral tolerance test", "abnormal glucose oral tolerance test" ] ], "xref": [ "UMLS:C1847425" ], "is_a": [ "HP:0040270" ], "is_obsolete": "", "replace_id": "" }, "HP:0004925": { "name": [ "chronic lactic acidosis", "chronic lactic acidosis" ], "alt_id": [ "HP:0004899" ], "def": "A chronic form of lactic acidemia.", "synonym": [], "xref": [ "UMLS:C1839437" ], "is_a": [ "HP:0003128", "HP:0012468" ], "is_obsolete": "", "replace_id": "" }, "HP:0004926": { "name": [ "orthostatic hypotension due to autonomic dysfunction", "orthostatic hypotension due to autonomic dysfunction" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1868528" ], "is_a": [ "HP:0001278" ], "is_obsolete": "", "replace_id": "" }, "HP:0004927": { "name": [ "pulmonary artery dilatation", "pulmonary artery dilatation" ], "alt_id": [], "def": "An abnormal widening of the diameter of the pulmonary artery.", "synonym": [], "xref": [ "SNOMEDCT_US:251047005", "UMLS:C0428851" ], "is_a": [ "HP:0030966" ], "is_obsolete": "", "replace_id": "" }, "HP:0004928": { "name": [ "obsolete peripheral arterial stenosis", "obsolete peripheral arterial stenosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0004950" }, "HP:0004929": { "name": [ "obsolete coronary atherosclerosis", "obsolete coronary atherosclerosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001677" }, "HP:0004930": { "name": [ "abnormality of the pulmonary vasculature", "abnormality of the pulmonary vasculature" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the lung blood vessels", "abnormality of the lung blood vessel" ] ], "xref": [ "UMLS:C4025271" ], "is_a": [ "HP:0002088", "HP:0002597" ], "is_obsolete": "", "replace_id": "" }, "HP:0004931": { "name": [ "arteriosclerosis of small cerebral arteries", "arteriosclerosis of small cerebral artery" ], "alt_id": [], "def": "Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.", "synonym": [ [ "hardened artery wall in small cerebral arteries", "harden artery wall in small cerebral artery" ] ], "xref": [ "UMLS:C4025270", "UMLS:C4280505" ], "is_a": [ "HP:0002634", "HP:0009145" ], "is_obsolete": "", "replace_id": "" }, "HP:0004933": { "name": [ "ascending aortic dissection", "ascend aortic dissection" ], "alt_id": [], "def": "A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.", "synonym": [ [ "type a aortic dissection", "type a aortic dissection" ] ], "xref": [ "UMLS:C1836653" ], "is_a": [ "HP:0002647", "HP:0031784" ], "is_obsolete": "", "replace_id": "" }, "HP:0004934": { "name": [ "vascular calcification", "vascular calcification" ], "alt_id": [], "def": "Abnormal calcification of the vasculature.", "synonym": [], "xref": [ "MSH:D061205", "SNOMEDCT_US:237897009", "UMLS:C0342649" ], "is_a": [ "HP:0011915", "HP:0033353" ], "is_obsolete": "", "replace_id": "" }, "HP:0004935": { "name": [ "pulmonary artery atresia", "pulmonary artery atresia" ], "alt_id": [], "def": "A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.", "synonym": [ [ "pulmonary atresia", "pulmonary atresia" ] ], "xref": [ "SNOMEDCT_US:10930001", "SNOMEDCT_US:204443008", "UMLS:C0265908" ], "is_a": [ "HP:0030966" ], "is_obsolete": "", "replace_id": "" }, "HP:0004936": { "name": [ "venous thrombosis", "venous thrombosis" ], "alt_id": [], "def": "Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.", "synonym": [ [ "blood clot in vein", "blood clot in vein" ] ], "xref": [ "MSH:D020246", "SNOMEDCT_US:111293003", "UMLS:C0042487" ], "is_a": [ "HP:0001977" ], "is_obsolete": "", "replace_id": "" }, "HP:0004937": { "name": [ "pulmonary artery aneurysm", "pulmonary artery aneurysm" ], "alt_id": [], "def": "An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.", "synonym": [], "xref": [ "SNOMEDCT_US:194892009", "UMLS:C0155676" ], "is_a": [ "HP:0004927" ], "is_obsolete": "", "replace_id": "" }, "HP:0004938": { "name": [ "tortuous cerebral arteries", "tortuous cerebral artery" ], "alt_id": [], "def": "Excessive bending, twisting, and winding of a cerebral artery.", "synonym": [ [ "twisted cerebral arteries", "twisted cerebral artery" ] ], "xref": [ "UMLS:C1836791" ], "is_a": [ "HP:0005116", "HP:0009145" ], "is_obsolete": "", "replace_id": "" }, "HP:0004940": { "name": [ "generalized arterial calcification", "generalize arterial calcification" ], "alt_id": [ "HP:0004967" ], "def": "Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.", "synonym": [ [ "generalised arterial calcification", "generalise arterial calcification" ] ], "xref": [ "UMLS:C4025269" ], "is_a": [ "HP:0003207" ], "is_obsolete": "", "replace_id": "" }, "HP:0004941": { "name": [ "extrahepatic portal hypertension", "extrahepatic portal hypertension" ], "alt_id": [], "def": "Increased pressure in the pre-hepatic portal vein.", "synonym": [], "xref": [ "UMLS:C4025268" ], "is_a": [ "HP:0001409" ], "is_obsolete": "", "replace_id": "" }, "HP:0004942": { "name": [ "aortic aneurysm", "aortic aneurysm" ], "alt_id": [ "HP:0001724" ], "def": "Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.", "synonym": [ [ "aortic dilatation", "aortic dilatation" ], [ "bulge in wall of large artery that carries blood away from heart", "bulge in wall of large artery that carry blood away from heart" ] ], "xref": [ "Fyler:2301", "Fyler:2708", "MSH:D001014", "SNOMEDCT_US:67362008", "UMLS:C0003486" ], "is_a": [ "HP:0001679", "HP:0002617" ], "is_obsolete": "", "replace_id": "" }, "HP:0004943": { "name": [ "accelerated atherosclerosis", "accelerate atherosclerosis" ], "alt_id": [], "def": "Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.", "synonym": [ [ "accelerated plaque build - up in arteries", "accelerate plaque build - up in artery" ] ], "xref": [ "UMLS:C1849618", "UMLS:C4280504" ], "is_a": [ "HP:0002621" ], "is_obsolete": "", "replace_id": "" }, "HP:0004944": { "name": [ "dilatation of the cerebral artery", "dilatation of the cerebral artery" ], "alt_id": [ "HP:0002618", "HP:0006816" ], "def": "The presence of a localized dilatation or ballooning of a cerebral artery.", "synonym": [ [ "brain aneurysm", "brain aneurysm" ], [ "cerebral aneurysm", "cerebral aneurysm" ], [ "cerebral artery aneurysm", "cerebral artery aneurysm" ], [ "intracranial aneurysm", "intracranial aneurysm" ] ], "xref": [ "MSH:D002532", "SNOMEDCT_US:128608001", "UMLS:C0751003", "UMLS:C1290398" ], "is_a": [ "HP:0002617", "HP:0009145" ], "is_obsolete": "", "replace_id": "" }, "HP:0004945": { "name": [ "extracranial internal carotid artery dissection", "extracranial internal carotid artery dissection" ], "alt_id": [], "def": "A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.", "synonym": [], "xref": [ "UMLS:C4025267" ], "is_a": [ "HP:0005294", "HP:0012159" ], "is_obsolete": "", "replace_id": "" }, "HP:0004947": { "name": [ "arteriovenous fistula", "arteriovenous fistula" ], "alt_id": [ "HP:0004946" ], "def": "An abnormal connection between an artery and vein.", "synonym": [ [ "arteriovenous fistulas", "arteriovenous fistula" ] ], "xref": [ "MSH:D001164", "SNOMEDCT_US:128617001", "SNOMEDCT_US:439470001", "UMLS:C0003855" ], "is_a": [ "HP:0100026" ], "is_obsolete": "", "replace_id": "" }, "HP:0004948": { "name": [ "vascular tortuosity", "vascular tortuosity" ], "alt_id": [], "def": "Abnormal twisting of arteries or veins.", "synonym": [ [ "twisted blood vessels", "twist blood vessel" ] ], "xref": [ "UMLS:C2673776" ], "is_a": [ "HP:0033353" ], "is_obsolete": "", "replace_id": "" }, "HP:0004950": { "name": [ "peripheral arterial stenosis", "peripheral arterial stenosis" ], "alt_id": [ "HP:0004928", "HP:0004973", "HP:0005296", "HP:0005299", "HP:0005309", "HP:0005315", "HP:0005794" ], "def": "Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication.", "synonym": [ [ "arterial disease of legs", "arterial disease of leg" ], [ "occlusive arterial disease", "occlusive arterial disease" ], [ "occlusive vascular disease", "occlusive vascular disease" ], [ "peripheral artery disease", "peripheral artery disease" ], [ "peripheral artery occlusive disease", "peripheral artery occlusive disease" ], [ "peripheral vascular disease", "peripheral vascular disease" ] ], "xref": [ "MSH:D016491", "MSH:D058729", "SNOMEDCT_US:399957001", "SNOMEDCT_US:400047006", "UMLS:C0085096", "UMLS:C1704436" ], "is_a": [ "HP:0100545" ], "is_obsolete": "", "replace_id": "" }, "HP:0004952": { "name": [ "pulmonary arteriovenous fistulas", "pulmonary arteriovenous fistula" ], "alt_id": [], "def": "A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.", "synonym": [], "xref": [ "MSH:C562404", "SNOMEDCT_US:111289009", "UMLS:C0155675" ], "is_a": [ "HP:0004947" ], "is_obsolete": "", "replace_id": "" }, "HP:0004953": { "name": [ "obsolete dilatation of abdominal aorta", "obsolete dilatation of abdominal aorta" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0005112" }, "HP:0004954": { "name": [ "obsolete dilatation of the descending aorta", "obsolete dilatation of the descending aorta" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0004959" }, "HP:0004955": { "name": [ "generalized arterial tortuosity", "generalize arterial tortuosity" ], "alt_id": [], "def": "Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.", "synonym": [ [ "arterial tortuosity , general", "arterial tortuosity , general" ], [ "arterial tortuosity , generalised", "arterial tortuosity , generalise" ], [ "arterial tortuosity , generalized", "arterial tortuosity , generalize" ], [ "generalised arterial tortuosity", "generalise arterial tortuosity" ], [ "generalised twisted arteries", "generalise twisted artery" ], [ "generalized twisted arteries", "generalize twisted artery" ] ], "xref": [ "UMLS:C1836651", "UMLS:C3279191" ], "is_a": [ "HP:0005116" ], "is_obsolete": "", "replace_id": "" }, "HP:0004959": { "name": [ "descending thoracic aorta aneurysm", "descend thoracic aorta aneurysm" ], "alt_id": [ "HP:0004954" ], "def": "An abnormal localized widening (dilatation) of the descending thoracic aorta.", "synonym": [ [ "dilatation of the descending thoracic aorta", "dilatation of the descend thoracic aorta" ] ], "xref": [ "Fyler:2754", "UMLS:C4025266" ], "is_a": [ "HP:0012727" ], "is_obsolete": "", "replace_id": "" }, "HP:0004960": { "name": [ "absent pulmonary artery", "absent pulmonary artery" ], "alt_id": [], "def": "A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.", "synonym": [ [ "absent lung artery", "absent lung artery" ], [ "missing pulmonary artery", "miss pulmonary artery" ] ], "xref": [ "SNOMEDCT_US:86252004", "UMLS:C0265905" ], "is_a": [ "HP:0030966" ], "is_obsolete": "", "replace_id": "" }, "HP:0004961": { "name": [ "pulmonary artery sling", "pulmonary artery sling" ], "alt_id": [], "def": "An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.", "synonym": [], "xref": [ "UMLS:C1856123" ], "is_a": [ "HP:0030966" ], "is_obsolete": "", "replace_id": "" }, "HP:0004962": { "name": [ "thoracic aorta calcification", "thoracic aorta calcification" ], "alt_id": [], "def": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.", "synonym": [], "xref": [ "UMLS:C1969292" ], "is_a": [ "HP:0004963" ], "is_obsolete": "", "replace_id": "" }, "HP:0004963": { "name": [ "calcification of the aorta", "calcification of the aorta" ], "alt_id": [], "def": "Calcification, that is, pathological deposition of calcium salts in the aorta.", "synonym": [], "xref": [ "UMLS:C1096249" ], "is_a": [ "HP:0001679", "HP:0003207" ], "is_obsolete": "", "replace_id": "" }, "HP:0004964": { "name": [ "pulmonary arterial medial hypertrophy", "pulmonary arterial medial hypertrophy" ], "alt_id": [ "HP:0004939" ], "def": "Increase in mass of the tunica media of the arteries in the pulmonary circulation.", "synonym": [ [ "hypertrophy of the pulmonary artery wall", "hypertrophy of the pulmonary artery wall" ] ], "xref": [ "UMLS:C1504382" ], "is_a": [ "HP:0030966" ], "is_obsolete": "", "replace_id": "" }, "HP:0004966": { "name": [ "medial calcification of large arteries", "medial calcification of large artery" ], "alt_id": [], "def": "Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.", "synonym": [], "xref": [ "UMLS:C4025265" ], "is_a": [ "HP:0012456" ], "is_obsolete": "", "replace_id": "" }, "HP:0004968": { "name": [ "recurrent cerebral hemorrhage", "recurrent cerebral hemorrhage" ], "alt_id": [], "def": "Recurrent bleeding into the parenchyma of the brain.", "synonym": [ [ "recurrent cerebral haemorrhage", "recurrent cerebral haemorrhage" ], [ "recurrent hemorrhagic stroke", "recurrent hemorrhagic stroke" ] ], "xref": [ "UMLS:C4025264" ], "is_a": [ "HP:0001342" ], "is_obsolete": "", "replace_id": "" }, "HP:0004969": { "name": [ "peripheral pulmonary artery stenosis", "peripheral pulmonary artery stenosis" ], "alt_id": [ "HP:0004957" ], "def": "Stenosis of a peripheral branch of the pulmonary artery.", "synonym": [ [ "narrowing of peripheral lung artery", "narrowing of peripheral lung artery" ], [ "peripheral pulmonary stenosis", "peripheral pulmonary stenosis" ], [ "peripheral pulmonic stenosis", "peripheral pulmonic stenosis" ] ], "xref": [ "SNOMEDCT_US:253631001", "UMLS:C0345030" ], "is_a": [ "HP:0004415" ], "is_obsolete": "", "replace_id": "" }, "HP:0004970": { "name": [ "ascending tubular aorta aneurysm", "ascend tubular aorta aneurysm" ], "alt_id": [ "HP:0005111", "HP:0005128" ], "def": "An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.", "synonym": [ [ "aneurysm of the ascending tubular aorta", "aneurysm of the ascend tubular aorta" ], [ "ascending aorta dilation", "ascend aorta dilation" ], [ "ascending aortic aneurysm", "ascend aortic aneurysm" ], [ "ascending aortic dilation", "ascend aortic dilation" ], [ "bulging of wall of large artery located above heart", "bulging of wall of large artery locate above heart" ], [ "dilatation of ascending aorta", "dilatation of ascend aorta" ] ], "xref": [ "Fyler:2310", "Fyler:2701", "SNOMEDCT_US:253645007", "UMLS:C0345049" ], "is_a": [ "HP:0012727" ], "is_obsolete": "", "replace_id": "" }, "HP:0004971": { "name": [ "pulmonary artery hypoplasia", "pulmonary artery hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the pulmonary artery.", "synonym": [ [ "underdeveloped lung artery", "underdeveloped lung artery" ], [ "underdeveloped pulmonary artery", "underdeveloped pulmonary artery" ] ], "xref": [ "Fyler:2966", "SNOMEDCT_US:54682008", "UMLS:C0265910" ], "is_a": [ "HP:0030966" ], "is_obsolete": "", "replace_id": "" }, "HP:0004972": { "name": [ "elevated mean arterial pressure", "elevate mean arterial pressure" ], "alt_id": [], "def": "An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.", "synonym": [], "xref": [ "UMLS:C1840376" ], "is_a": [ "HP:0032263" ], "is_obsolete": "", "replace_id": "" }, "HP:0004974": { "name": [ "coarctation of abdominal aorta", "coarctation of abdominal aorta" ], "alt_id": [], "def": "Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.", "synonym": [], "xref": [ "UMLS:C4025263" ], "is_a": [ "HP:0001680" ], "is_obsolete": "", "replace_id": "" }, "HP:0004975": { "name": [ "erlenmeyer flask deformity of the femurs", "erlenmeyer flask deformity of the femur" ], "alt_id": [ "HP:0006422" ], "def": "Flaring of distal femur.", "synonym": [ [ "erlenmeyer flask deformity of distal femur", "erlenmeyer flask deformity of distal femur" ], [ "erlenmeyer flask femora", "erlenmeyer flask femur" ], [ "erlenmeyer flask shaped thighbone", "erlenmeyer flask shape thighbone" ] ], "xref": [ "UMLS:C1855895" ], "is_a": [ "HP:0002823" ], "is_obsolete": "", "replace_id": "" }, "HP:0004976": { "name": [ "knee dislocation", "knee dislocation" ], "alt_id": [ "HP:0006469" ], "def": "", "synonym": [ [ "dislocations of the knees", "dislocation of the knee" ], [ "knee dislocations", "knee dislocation" ] ], "xref": [ "MSH:D031221", "SNOMEDCT_US:58320001", "UMLS:C0159970" ], "is_a": [ "HP:0002815", "HP:0030311" ], "is_obsolete": "", "replace_id": "" }, "HP:0004977": { "name": [ "bilateral radial aplasia", "bilateral radial aplasia" ], "alt_id": [ "HP:0005870" ], "def": "Missing radius bone on both sides associated with congenital failure of development.", "synonym": [ [ "bilateral absence of radius", "bilateral absence of radius" ] ], "xref": [ "UMLS:C1848840" ], "is_a": [ "HP:0003974" ], "is_obsolete": "", "replace_id": "" }, "HP:0004979": { "name": [ "metaphyseal sclerosis", "metaphyseal sclerosis" ], "alt_id": [], "def": "Abnormally increased density of metaphyseal bone.", "synonym": [ [ "increased bone density in wide portion of long bone", "increase bone density in wide portion of long bone" ], [ "sclerotic metaphyses", "sclerotic metaphyses" ] ], "xref": [ "UMLS:C3552526" ], "is_a": [ "HP:0000944" ], "is_obsolete": "", "replace_id": "" }, "HP:0004980": { "name": [ "metaphyseal rarefaction", "metaphyseal rarefaction" ], "alt_id": [], "def": "Reduction in density of metaphyseal bony tissue.", "synonym": [ [ "rarefaction of the metaphyses", "rarefaction of the metaphyses" ] ], "xref": [ "UMLS:C1832146" ], "is_a": [ "HP:0000944" ], "is_obsolete": "", "replace_id": "" }, "HP:0004981": { "name": [ "prominent styloid process of ulna", "prominent styloid process of ulna" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025262" ], "is_a": [ "HP:0004035" ], "is_obsolete": "", "replace_id": "" }, "HP:0004986": { "name": [ "obsolete rudimentary to absent fibulae", "obsolete rudimentary to absent fibula" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0006381" }, "HP:0004987": { "name": [ "mesomelic leg shortening", "mesomelic leg shorten" ], "alt_id": [], "def": "Shortening of the middle parts of the leg in relation to the upper and terminal segments.", "synonym": [ [ "mesomelia of the lower limbs", "mesomelia of the low limb" ], [ "mesomelic lower limb shortening", "mesomelic low limb shorten" ] ], "xref": [ "UMLS:C1969178" ], "is_a": [ "HP:0003027" ], "is_obsolete": "", "replace_id": "" }, "HP:0004990": { "name": [ "epiphyseal streaking", "epiphyseal streak" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1858039" ], "is_a": [ "HP:0005930" ], "is_obsolete": "", "replace_id": "" }, "HP:0004991": { "name": [ "rhizomelic arm shortening", "rhizomelic arm shortening" ], "alt_id": [], "def": "Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).", "synonym": [], "xref": [ "UMLS:C1969532" ], "is_a": [ "HP:0008905" ], "is_obsolete": "", "replace_id": "" }, "HP:0004993": { "name": [ "slender long bones with narrow diaphyses", "slender long bone with narrow diaphysis" ], "alt_id": [], "def": "Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.", "synonym": [ [ "slender long bones with narrow shaft", "slender long bone with narrow shaft" ] ], "xref": [ "UMLS:C2675547" ], "is_a": [ "HP:0000940", "HP:0003100" ], "is_obsolete": "", "replace_id": "" }, "HP:0004997": { "name": [ "multicentric ossification of proximal humeral epiphyses", "multicentric ossification of proximal humeral epiphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1857192" ], "is_a": [ "HP:0003897" ], "is_obsolete": "", "replace_id": "" }, "HP:0005001": { "name": [ "recurrent patellar dislocation", "recurrent patellar dislocation" ], "alt_id": [], "def": "Patellar dislocation occurring repeated times.", "synonym": [ [ "recurrent dislocation of patellas", "recurrent dislocation of patella" ] ], "xref": [ "SNOMEDCT_US:202246002", "UMLS:C0409412" ], "is_a": [ "HP:0002999", "HP:0031869" ], "is_obsolete": "", "replace_id": "" }, "HP:0005003": { "name": [ "aplasia / hypoplasia of the capital femoral epiphysis", "aplasia / hypoplasia of the capital femoral epiphysis" ], "alt_id": [], "def": "Absence or underdevelopment of the proximal epiphysis of the femur.", "synonym": [ [ "absent / small end part of innermost thighbone", "absent / small end part of innermost thighbone" ], [ "absent / underdeveloped end part of innermost thighbone", "absent / underdeveloped end part of innermost thighbone" ] ], "xref": [ "UMLS:C4025261" ], "is_a": [ "HP:0010574", "HP:0010577" ], "is_obsolete": "", "replace_id": "" }, "HP:0005004": { "name": [ "flattened proximal radial epiphyses", "flatten proximal radial epiphysis" ], "alt_id": [], "def": "An abnormally flat form of the proximal epiphysis of the radius.", "synonym": [], "xref": [ "UMLS:C1849065" ], "is_a": [ "HP:0004002", "HP:0010597" ], "is_obsolete": "", "replace_id": "" }, "HP:0005005": { "name": [ "femoral bowing present at birth , straightening with time", "femoral bow present at birth , straighten with time" ], "alt_id": [], "def": "Congenital onset bending or abnormal curvature of the femur that normalizes with age.", "synonym": [ [ "bowing of thighbone at birth , straightening with time", "bowing of thighbone at birth , straighten with time" ] ], "xref": [ "UMLS:C1833754" ], "is_a": [ "HP:0002980" ], "is_obsolete": "", "replace_id": "" }, "HP:0005008": { "name": [ "large joint dislocations", "large joint dislocation" ], "alt_id": [], "def": "", "synonym": [ [ "large joint dislocations", "large joint dislocation" ] ], "xref": [ "UMLS:C4025260" ], "is_a": [ "HP:0001373" ], "is_obsolete": "", "replace_id": "" }, "HP:0005009": { "name": [ "dumbbell - shaped humerus", "dumbbell - shape humerus" ], "alt_id": [], "def": "The humerus is shortened and displays flaring (widening) of the metaphyses.", "synonym": [ [ "dumbbell - shaped long bone in upper arm", "dumbbell - shape long bone in upper arm" ] ], "xref": [ "UMLS:C4025259" ], "is_a": [ "HP:0000947" ], "is_obsolete": "", "replace_id": "" }, "HP:0005010": { "name": [ "osteomyelitis leading to amputation due to slow healing fractures", "osteomyelitis lead to amputation due to slow healing fracture" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1864975" ], "is_a": [ "HP:0002754" ], "is_obsolete": "", "replace_id": "" }, "HP:0005011": { "name": [ "mesomelic arm shortening", "mesomelic arm shortening" ], "alt_id": [ "HP:0005024", "HP:0006455" ], "def": "Shortening of the middle parts of the arm in relation to the upper and terminal segments.", "synonym": [ [ "mesomelia of the upper limbs", "mesomelia of the upper limb" ], [ "upper limb brachymesomelia", "upper limb brachymesomelia" ] ], "xref": [ "UMLS:C1862087" ], "is_a": [ "HP:0003027" ], "is_obsolete": "", "replace_id": "" }, "HP:0005013": { "name": [ "dysplastic distal radial epiphyses", "dysplastic distal radial epiphysis" ], "alt_id": [], "def": "Abnormally developed (dysplastic) distal epiphysis of the radius.", "synonym": [], "xref": [ "UMLS:C1862131" ], "is_a": [ "HP:0010597" ], "is_obsolete": "", "replace_id": "" }, "HP:0005017": { "name": [ "polyarticular chondrocalcinosis", "polyarticular chondrocalcinosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025258" ], "is_a": [ "HP:0000934" ], "is_obsolete": "", "replace_id": "" }, "HP:0005019": { "name": [ "diaphyseal thickening", "diaphyseal thicken" ], "alt_id": [], "def": "", "synonym": [ [ "thickening of shaft or central part of long bones", "thickening of shaft or central part of long bone" ] ], "xref": [ "UMLS:C1835473" ], "is_a": [ "HP:0000940" ], "is_obsolete": "", "replace_id": "" }, "HP:0005021": { "name": [ "bilateral elbow dislocations", "bilateral elbow dislocation" ], "alt_id": [], "def": "", "synonym": [ [ "dislocated elbows on both sides", "dislocate elbow on both side" ] ], "xref": [ "UMLS:C3278429" ], "is_a": [ "HP:0003042" ], "is_obsolete": "", "replace_id": "" }, "HP:0005025": { "name": [ "hypoplastic distal humeri", "hypoplastic distal humerus" ], "alt_id": [], "def": "Underdevelopment of the distal portion of the humerus.", "synonym": [], "xref": [ "UMLS:C1968607" ], "is_a": [ "HP:0006507" ], "is_obsolete": "", "replace_id": "" }, "HP:0005026": { "name": [ "mesomelic / rhizomelic limb shortening", "mesomelic / rhizomelic limb shorten" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1866239" ], "is_a": [ "HP:0008905" ], "is_obsolete": "", "replace_id": "" }, "HP:0005028": { "name": [ "widened proximal tibial metaphyses", "widen proximal tibial metaphyses" ], "alt_id": [], "def": "", "synonym": [ [ "wide innermost wide portion of shankbone bone", "wide innermost wide portion of shankbone bone" ], [ "wide innermost wide portion of shinbone bone", "wide innermost wide portion of shinbone bone" ] ], "xref": [ "UMLS:C1836187" ], "is_a": [ "HP:0003016" ], "is_obsolete": "", "replace_id": "" }, "HP:0005033": { "name": [ "distal ulnar hypoplasia", "distal ulnar hypoplasia" ], "alt_id": [ "HP:0006474" ], "def": "Underdevelopment of the distal portion of the ulna.", "synonym": [ [ "distal shortening of ulna", "distal shortening of ulna" ], [ "hypoplastic distal ulna", "hypoplastic distal ulna" ] ], "xref": [ "UMLS:C1833145" ], "is_a": [ "HP:0003022" ], "is_obsolete": "", "replace_id": "" }, "HP:0005035": { "name": [ "shortening of all phalanges of the toes", "shortening of all phalanx of the toe" ], "alt_id": [], "def": "Developmental hypoplasia (shortening) of all phalanges of the foot.", "synonym": [ [ "short toe bones", "short toe bone" ] ], "xref": [ "UMLS:C4025257" ], "is_a": [ "HP:0001831", "HP:0010161" ], "is_obsolete": "", "replace_id": "" }, "HP:0005036": { "name": [ "unilateral ulnar hypoplasia", "unilateral ulnar hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the ulna on only one side.", "synonym": [], "xref": [ "UMLS:C1837832" ], "is_a": [ "HP:0003022" ], "is_obsolete": "", "replace_id": "" }, "HP:0005037": { "name": [ "proximal radio - ulnar synostosis", "proximal radio - ulnar synostosis" ], "alt_id": [], "def": "An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.", "synonym": [], "xref": [ "UMLS:C2676443" ], "is_a": [ "HP:0002974" ], "is_obsolete": "", "replace_id": "" }, "HP:0005039": { "name": [ "multiple long - bone exostoses", "multiple long - bone exostosis" ], "alt_id": [], "def": "Multiple exostoses originating in long bones.", "synonym": [ [ "multiple exostoses of long tubular bones", "multiple exostosis of long tubular bone" ] ], "xref": [ "UMLS:C1835583" ], "is_a": [ "HP:0002762" ], "is_obsolete": "", "replace_id": "" }, "HP:0005041": { "name": [ "irregular capital femoral epiphysis", "irregular capital femoral epiphysis" ], "alt_id": [ "HP:0008806" ], "def": "Irregular surface of the normally relatively smooth capital femoral epiphysis.", "synonym": [ [ "irregular capital femoral epiphyses", "irregular capital femoral epiphysis" ], [ "irregular end part of innermost thighbone", "irregular end part of innermost thighbone" ], [ "irregular proximal femoral epiphyses", "irregular proximal femoral epiphysis" ] ], "xref": [ "UMLS:C4020825" ], "is_a": [ "HP:0006361", "HP:0010574" ], "is_obsolete": "", "replace_id": "" }, "HP:0005042": { "name": [ "irregular , rachitic - like metaphyses", "irregular , rachitic - like metaphyses" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1866700" ], "is_a": [ "HP:0003025" ], "is_obsolete": "", "replace_id": "" }, "HP:0005043": { "name": [ "proximal humeral metaphyseal irregularity", "proximal humeral metaphyseal irregularity" ], "alt_id": [], "def": "Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).", "synonym": [ [ "irregular proximal humeral metaphyses", "irregular proximal humeral metaphyses" ] ], "xref": [ "UMLS:C1865128" ], "is_a": [ "HP:0003913" ], "is_obsolete": "", "replace_id": "" }, "HP:0005045": { "name": [ "diaphyseal cortical sclerosis", "diaphyseal cortical sclerosis" ], "alt_id": [], "def": "An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [], "xref": [ "UMLS:C1833739" ], "is_a": [ "HP:0003034" ], "is_obsolete": "", "replace_id": "" }, "HP:0005048": { "name": [ "synostosis of carpal bones", "synostosis of carpal bone" ], "alt_id": [], "def": "", "synonym": [ [ "fusion of wrist bones", "fusion of wrist bone" ] ], "xref": [ "UMLS:C1836193" ], "is_a": [ "HP:0009702" ], "is_obsolete": "", "replace_id": "" }, "HP:0005050": { "name": [ "anterolateral radial head dislocation", "anterolateral radial head dislocation" ], "alt_id": [], "def": "A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction.", "synonym": [ [ "anterior / lateral radial head dislocation", "anterior / lateral radial head dislocation" ] ], "xref": [ "UMLS:C1968610" ], "is_a": [ "HP:0003083" ], "is_obsolete": "", "replace_id": "" }, "HP:0005054": { "name": [ "metaphyseal spurs", "metaphyseal spur" ], "alt_id": [ "HP:0005088" ], "def": "Bony outgrowths that extend laterally from the margin of the metaphysis.", "synonym": [], "xref": [ "UMLS:C1832988" ], "is_a": [ "HP:0000944" ], "is_obsolete": "", "replace_id": "" }, "HP:0005059": { "name": [ "arthralgia / arthritis", "arthralgia / arthritis" ], "alt_id": [], "def": "", "synonym": [ [ "joint pain / joint inflammation", "joint pain / joint inflammation" ] ], "xref": [ "UMLS:C4025256" ], "is_a": [ "HP:0001369", "HP:0002829" ], "is_obsolete": "", "replace_id": "" }, "HP:0005060": { "name": [ "limited elbow flexion / extension", "limited elbow flexion / extension" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1968605" ], "is_a": [ "HP:0001377", "HP:0006376" ], "is_obsolete": "", "replace_id": "" }, "HP:0005063": { "name": [ "fragmented , irregular epiphyses", "fragment , irregular epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "fragmented , irregular end part of bone", "fragment , irregular end part of bone" ] ], "xref": [ "UMLS:C1867494" ], "is_a": [ "HP:0010582", "HP:0100168" ], "is_obsolete": "", "replace_id": "" }, "HP:0005066": { "name": [ "cone - shaped epiphyses fused within their metaphyses", "cone - shaped epiphysis fuse within their metaphyses" ], "alt_id": [], "def": "", "synonym": [ [ "cone - shaped end part of long bone fused within their wide portion of wide bone", "cone - shaped end part of long bone fuse within their wide portion of wide bone" ] ], "xref": [ "UMLS:C4025255" ], "is_a": [ "HP:0010579" ], "is_obsolete": "", "replace_id": "" }, "HP:0005067": { "name": [ "proximal fibular overgrowth", "proximal fibular overgrowth" ], "alt_id": [], "def": "Overgrowth of the proximal part of the fibula.", "synonym": [ [ "overgrowth of innermost part of calf bone", "overgrowth of innermost part of calf bone" ] ], "xref": [ "UMLS:C2673395" ], "is_a": [ "HP:0003099" ], "is_obsolete": "", "replace_id": "" }, "HP:0005068": { "name": [ "absent styloid process of ulna", "absent styloid process of ulna" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025254" ], "is_a": [ "HP:0004035" ], "is_obsolete": "", "replace_id": "" }, "HP:0005069": { "name": [ "rhizo - meso - acromelic limb shortening", "rhizo - meso - acromelic limb shorten" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C2673654" ], "is_a": [ "HP:0008905" ], "is_obsolete": "", "replace_id": "" }, "HP:0005070": { "name": [ "proximal radial head dislocation", "proximal radial head dislocation" ], "alt_id": [], "def": "A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction.", "synonym": [], "xref": [ "UMLS:C1865570" ], "is_a": [ "HP:0003083" ], "is_obsolete": "", "replace_id": "" }, "HP:0005072": { "name": [ "hyperextensibility at wrists", "hyperextensibility at wrist" ], "alt_id": [], "def": "The ability of the wrist joints to move beyond their normal range of motion.", "synonym": [ [ "increased laxity of wrists", "increase laxity of wrist" ], [ "increased wrist mobility", "increase wrist mobility" ] ], "xref": [ "UMLS:C1850853" ], "is_a": [ "HP:0001382" ], "is_obsolete": "", "replace_id": "" }, "HP:0005084": { "name": [ "anterior radial head dislocation", "anterior radial head dislocation" ], "alt_id": [], "def": "A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction.", "synonym": [ [ "anterior dislocation of radial head", "anterior dislocation of radial head" ] ], "xref": [ "UMLS:C2674451" ], "is_a": [ "HP:0003083" ], "is_obsolete": "", "replace_id": "" }, "HP:0005085": { "name": [ "limited knee flexion / extension", "limited knee flexion / extension" ], "alt_id": [], "def": "A limited ability of the knee joint to perform extension and flexion.", "synonym": [], "xref": [ "UMLS:C1968606" ], "is_a": [ "HP:0010501" ], "is_obsolete": "", "replace_id": "" }, "HP:0005086": { "name": [ "knee osteoarthritis", "knee osteoarthritis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D020370", "SNOMEDCT_US:239873007", "UMLS:C0409959" ], "is_a": [ "HP:0002758", "HP:0002815" ], "is_obsolete": "", "replace_id": "" }, "HP:0005089": { "name": [ "abnormal metaphyseal trabeculation", "abnormal metaphyseal trabeculation" ], "alt_id": [ "HP:0006360" ], "def": "An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.", "synonym": [], "xref": [ "UMLS:C1857139" ], "is_a": [ "HP:0000944" ], "is_obsolete": "", "replace_id": "" }, "HP:0005090": { "name": [ "lateral femoral bowing", "lateral femoral bowing" ], "alt_id": [ "HP:0005022" ], "def": "A lateral bending or abnormal curvature of the femur.", "synonym": [], "xref": [ "UMLS:C1866737" ], "is_a": [ "HP:0002980" ], "is_obsolete": "", "replace_id": "" }, "HP:0005092": { "name": [ "streaky metaphyseal sclerosis", "streaky metaphyseal sclerosis" ], "alt_id": [], "def": "The presence of streaks (bands) of abnormally increased density of metaphyseal bone.", "synonym": [ [ "streak increase in bone density in wide portion of wide bone", "streak increase in bone density in wide portion of wide bone" ] ], "xref": [ "UMLS:C4025253" ], "is_a": [ "HP:0004979" ], "is_obsolete": "", "replace_id": "" }, "HP:0005093": { "name": [ "absent proximal radial epiphyses", "absent proximal radial epiphysis" ], "alt_id": [], "def": "Absence of the proximal radial epiphysis.", "synonym": [], "xref": [ "UMLS:C1855301" ], "is_a": [ "HP:0010577", "HP:0010596" ], "is_obsolete": "", "replace_id": "" }, "HP:0005096": { "name": [ "distal femoral bowing", "distal femoral bowing" ], "alt_id": [], "def": "A bending or abnormal curvature of the distal portion of the femur.", "synonym": [], "xref": [ "UMLS:C1860107" ], "is_a": [ "HP:0002980" ], "is_obsolete": "", "replace_id": "" }, "HP:0005099": { "name": [ "severe hydrops fetalis", "severe hydrops fetalis" ], "alt_id": [], "def": "", "synonym": [ [ "severe hydrops", "severe hydrops" ] ], "xref": [ "UMLS:C1866048" ], "is_a": [ "HP:0001789" ], "is_obsolete": "", "replace_id": "" }, "HP:0005100": { "name": [ "premature birth following premature rupture of fetal membranes", "premature birth follow premature rupture of fetal membrane" ], "alt_id": [], "def": "", "synonym": [ [ "premature birth following premature rupture of foetal membranes", "premature birth follow premature rupture of foetal membrane" ] ], "xref": [ "UMLS:C1851833" ], "is_a": [ "HP:0001622", "HP:0001788" ], "is_obsolete": "", "replace_id": "" }, "HP:0005101": { "name": [ "high - frequency hearing impairment", "high - frequency hearing impairment" ], "alt_id": [ "HP:0008522", "HP:0008584", "HP:0008597" ], "def": "A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).", "synonym": [ [ "hearing loss , high - frequency", "hearing loss , high - frequency" ], [ "high frequency hearing loss", "high frequency hearing loss" ], [ "high - frequency deafness", "high - frequency deafness" ], [ "progressive high frequency hearing loss", "progressive high frequency hearing loss" ], [ "progressive high - frequency hearing loss", "progressive high - frequency hearing loss" ] ], "xref": [ "MSH:D006316", "SNOMEDCT_US:232326009", "SNOMEDCT_US:48758008", "UMLS:C0018780" ], "is_a": [ "HP:0000365" ], "is_obsolete": "", "replace_id": "" }, "HP:0005102": { "name": [ "cochlear degeneration", "cochlear degeneration" ], "alt_id": [ "HP:0008156" ], "def": "Deterioration or loss of the tissues of the cochlea.", "synonym": [ [ "progressive cochlear degeneration", "progressive cochlear degeneration" ] ], "xref": [ "UMLS:C1849095" ], "is_a": [ "HP:0000375" ], "is_obsolete": "", "replace_id": "" }, "HP:0005103": { "name": [ "calcification of the auricular cartilage", "calcification of the auricular cartilage" ], "alt_id": [ "HP:0008549" ], "def": "Ossification affecting the external ear cartilage.", "synonym": [ [ "cartilaginous ossification of pinnae", "cartilaginous ossification of pinna" ], [ "ear cartilage calcification", "ear cartilage calcification" ], [ "ossification of pinnae", "ossification of pinna" ], [ "petrified ear", "petrified ear" ] ], "xref": [ "UMLS:C1408806" ], "is_a": [ "HP:0000377", "HP:0100593", "HP:3000022" ], "is_obsolete": "", "replace_id": "" }, "HP:0005104": { "name": [ "hypoplastic nasal septum", "hypoplastic nasal septum" ], "alt_id": [], "def": "Underdevelopment of the nasal septum.", "synonym": [ [ "decreased size of nasal septum", "decreased size of nasal septum" ], [ "decreased size of septum of nose", "decreased size of septum of nose" ], [ "hypoplasia of septum of nose", "hypoplasia of septum of nose" ], [ "small nasal septum", "small nasal septum" ], [ "small septum of nose", "small septum of nose" ] ], "xref": [ "UMLS:C1861328" ], "is_a": [ "HP:0009935" ], "is_obsolete": "", "replace_id": "" }, "HP:0005105": { "name": [ "abnormal nasal morphology", "abnormal nasal morphology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal nose morphology", "abnormal nose morphology" ], [ "abnormal of morphology of nose", "abnormal of morphology of nose" ], [ "abnormal of nasal shape", "abnormal of nasal shape" ], [ "abnormal of shape of nose", "abnormal of shape of nose" ] ], "xref": [ "Fyler:4870", "UMLS:C4025252" ], "is_a": [ "HP:0000366" ], "is_obsolete": "", "replace_id": "" }, "HP:0005106": { "name": [ "abnormality of the vertebral endplates", "abnormality of the vertebral endplate" ], "alt_id": [], "def": "Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs.", "synonym": [], "xref": [ "UMLS:C4025251" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0005107": { "name": [ "abnormal sacrum morphology", "abnormal sacrum morphology" ], "alt_id": [], "def": "An abnormality of the sacral bone.", "synonym": [ [ "abnormality of the sacrum", "abnormality of the sacrum" ] ], "xref": [ "UMLS:C4025250" ], "is_a": [ "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0005108": { "name": [ "abnormality of the intervertebral disk", "abnormality of the intervertebral disk" ], "alt_id": [], "def": "An abnormality of the intervertebral disk.", "synonym": [ [ "abnormality of the intervertebral disc", "abnormality of the intervertebral disc" ] ], "xref": [ "UMLS:C4025249" ], "is_a": [ "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0005109": { "name": [ "abnormality of the achilles tendon", "abnormality of the achilles tendon" ], "alt_id": [], "def": "An abnormality of the Achilles tendon.", "synonym": [ [ "abnormality of the achilles tendon", "abnormality of the achilles tendon" ], [ "abnormality of the calcaneal tendon", "abnormality of the calcaneal tendon" ] ], "xref": [ "UMLS:C4021642" ], "is_a": [ "HP:0001760", "HP:0100261" ], "is_obsolete": "", "replace_id": "" }, "HP:0005110": { "name": [ "atrial fibrillation", "atrial fibrillation" ], "alt_id": [ "HP:0001715", "HP:0005179" ], "def": "An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.", "synonym": [ [ "quivering upper heart chambers resulting in irregular heartbeat", "quiver upper heart chamber result in irregular heartbeat" ] ], "xref": [ "MSH:D001281", "SNOMEDCT_US:49436004", "UMLS:C0004238" ], "is_a": [ "HP:0001692" ], "is_obsolete": "", "replace_id": "" }, "HP:0005111": { "name": [ "obsolete dilatation of the ascending aorta", "obsolete dilatation of the ascending aorta" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0004970" }, "HP:0005112": { "name": [ "abdominal aortic aneurysm", "abdominal aortic aneurysm" ], "alt_id": [ "HP:0004953" ], "def": "An abnormal localized widening (dilatation) of the abdominal aorta.", "synonym": [ [ "dilatation of the abdominal aorta", "dilatation of the abdominal aorta" ] ], "xref": [ "UMLS:C4025248" ], "is_a": [ "HP:0004942" ], "is_obsolete": "", "replace_id": "" }, "HP:0005113": { "name": [ "aortic arch aneurysm", "aortic arch aneurysm" ], "alt_id": [ "HP:0004965" ], "def": "An abnormal localized widening (dilatation) of the aortic arch.", "synonym": [ [ "aortic arch dilatation", "aortic arch dilatation" ], [ "dilatation of the aortic arch", "dilatation of the aortic arch" ] ], "xref": [ "Fyler:2706", "UMLS:C1851119" ], "is_a": [ "HP:0012727" ], "is_obsolete": "", "replace_id": "" }, "HP:0005114": { "name": [ "obsolete abnormalities of the peripheral arteries", "obsolete abnormality of the peripheral artery" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0011004" }, "HP:0005115": { "name": [ "supraventricular arrhythmia", "supraventricular arrhythmia" ], "alt_id": [], "def": "A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.", "synonym": [ [ "arrhythmias , supraventricular", "arrhythmia , supraventricular" ] ], "xref": [ "SNOMEDCT_US:72654001", "UMLS:C0428974" ], "is_a": [ "HP:0011675" ], "is_obsolete": "", "replace_id": "" }, "HP:0005116": { "name": [ "arterial tortuosity", "arterial tortuosity" ], "alt_id": [], "def": "Abnormal tortuous (i.e., twisted) form of arteries.", "synonym": [], "xref": [ "UMLS:C3279191" ], "is_a": [ "HP:0004948", "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:0005117": { "name": [ "elevated diastolic blood pressure", "elevate diastolic blood pressure" ], "alt_id": [], "def": "Abnormal increase in diastolic blood pressure.", "synonym": [ [ "elevated diastolic bp", "elevate diastolic bp" ] ], "xref": [ "UMLS:C1840375" ], "is_a": [ "HP:0032263" ], "is_obsolete": "", "replace_id": "" }, "HP:0005120": { "name": [ "abnormal cardiac atrium morphology", "abnormal cardiac atrium morphology" ], "alt_id": [], "def": "Any structural abnormality of a cardiac atrium.", "synonym": [ [ "abnormality of cardiac atrium morphology", "abnormality of cardiac atrium morphology" ], [ "abnormality of heart atrium", "abnormality of heart atrium" ] ], "xref": [ "UMLS:C4025246" ], "is_a": [ "HP:0001627" ], "is_obsolete": "", "replace_id": "" }, "HP:0005121": { "name": [ "posterior scalloping of vertebral bodies", "posterior scalloping of vertebral body" ], "alt_id": [ "HP:0004572", "HP:0004579" ], "def": "An excessive concavity of the posterior surface of one or more vertebral bodies.", "synonym": [ [ "posterior vertebral body scalloping", "posterior vertebral body scallop" ] ], "xref": [ "UMLS:C1850196" ], "is_a": [ "HP:0004586" ], "is_obsolete": "", "replace_id": "" }, "HP:0005129": { "name": [ "congenital hypertrophy of left ventricle", "congenital hypertrophy of left ventricle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1855901" ], "is_a": [ "HP:0001712" ], "is_obsolete": "", "replace_id": "" }, "HP:0005130": { "name": [ "obsolete restrictive heart failure", "obsolete restrictive heart failure" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001723" }, "HP:0005132": { "name": [ "pericardial constriction", "pericardial constriction" ], "alt_id": [], "def": "Compression of the heart caused by rigid, thickened, or fused pericardial membranes.", "synonym": [], "xref": [ "UMLS:C0240709" ], "is_a": [ "HP:0001697" ], "is_obsolete": "", "replace_id": "" }, "HP:0005133": { "name": [ "right ventricular dilatation", "right ventricular dilatation" ], "alt_id": [], "def": "Enlargement of the chamber of the right ventricle.", "synonym": [ [ "dilated heart right ventricle", "dilate heart right ventricle" ] ], "xref": [ "Fyler:1827", "Fyler:2333", "SNOMEDCT_US:253522006", "UMLS:C0344893" ], "is_a": [ "HP:0001707" ], "is_obsolete": "", "replace_id": "" }, "HP:0005134": { "name": [ "absence of the pulmonary valve", "absence of the pulmonary valve" ], "alt_id": [ "HP:0005131" ], "def": "Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries.", "synonym": [ [ "absent pulmonary valve", "absent pulmonary valve" ] ], "xref": [ "SNOMEDCT_US:6996004", "UMLS:C0265831" ], "is_a": [ "HP:0001641" ], "is_obsolete": "", "replace_id": "" }, "HP:0005135": { "name": [ "abnormal t - wave", "abnormal t - wave" ], "alt_id": [], "def": "An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.", "synonym": [ [ "ekg : t - wave abnormalities", "ekg : t - wave abnormality" ], [ "t - wave abnormalities", "t - wave abnormality" ] ], "xref": [ "UMLS:C4025245" ], "is_a": [ "HP:0003115" ], "is_obsolete": "", "replace_id": "" }, "HP:0005136": { "name": [ "mitral annular calcification", "mitral annular calcification" ], "alt_id": [], "def": "Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.", "synonym": [ [ "premature calcification of mitral annulus", "premature calcification of mitral annulus" ] ], "xref": [ "UMLS:C1835130" ], "is_a": [ "HP:0004382" ], "is_obsolete": "", "replace_id": "" }, "HP:0005141": { "name": [ "obsolete episodes of ventricular tachycardia", "obsolete episode of ventricular tachycardia" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0004751" }, "HP:0005143": { "name": [ "anomalous origin of right pulmonary artery from ascending aorta", "anomalous origin of right pulmonary artery from ascend aorta" ], "alt_id": [], "def": "The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.", "synonym": [], "xref": [ "SNOMEDCT_US:253634009", "UMLS:C0345037" ], "is_a": [ "HP:0011660" ], "is_obsolete": "", "replace_id": "" }, "HP:0005144": { "name": [ "ventricular septal hypertrophy", "ventricular septal hypertrophy" ], "alt_id": [], "def": "The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.", "synonym": [ [ "thickened interventricular septum", "thicken interventricular septum" ] ], "xref": [ "UMLS:C1845019" ], "is_a": [ "HP:0010438" ], "is_obsolete": "", "replace_id": "" }, "HP:0005145": { "name": [ "coronary artery stenosis", "coronary artery stenosis" ], "alt_id": [], "def": "Abnormal narrowing of the coronary artery.", "synonym": [ [ "narrowing of coronary artery", "narrowing of coronary artery" ] ], "xref": [ "MSH:D023921", "SNOMEDCT_US:233970002", "UMLS:C0242231" ], "is_a": [ "HP:0006704" ], "is_obsolete": "", "replace_id": "" }, "HP:0005146": { "name": [ "cardiac valve calcification", "cardiac valve calcification" ], "alt_id": [], "def": "Abnormal calcification of a cardiac valve.", "synonym": [ [ "calcifications of the cardiac valves", "calcification of the cardiac valve" ] ], "xref": [ "UMLS:C1856483" ], "is_a": [ "HP:0001654", "HP:0011915" ], "is_obsolete": "", "replace_id": "" }, "HP:0005147": { "name": [ "bidirectional ventricular ectopy", "bidirectional ventricular ectopy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1969410" ], "is_a": [ "HP:0006682" ], "is_obsolete": "", "replace_id": "" }, "HP:0005148": { "name": [ "pulmonary valve defects", "pulmonary valve defect" ], "alt_id": [], "def": "Any defect in the valve connecting the heart and the pulmonary artery.", "synonym": [], "xref": [ "UMLS:C1860165" ], "is_a": [ "HP:0001641" ], "is_obsolete": "", "replace_id": "" }, "HP:0005150": { "name": [ "abnormal atrioventricular conduction", "abnormal atrioventricular conduction" ], "alt_id": [], "def": "An impairment of the electrical continuity between the atria and ventricles.", "synonym": [], "xref": [ "UMLS:C4025244" ], "is_a": [ "HP:0031546" ], "is_obsolete": "", "replace_id": "" }, "HP:0005151": { "name": [ "preductal coarctation of the aorta", "preductal coarctation of the aorta" ], "alt_id": [], "def": "Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.", "synonym": [ [ "proximal aortic coarctation", "proximal aortic coarctation" ] ], "xref": [ "SNOMEDCT_US:13867009", "UMLS:C0265878" ], "is_a": [ "HP:0012305" ], "is_obsolete": "", "replace_id": "" }, "HP:0005152": { "name": [ "histiocytoid cardiomyopathy", "histiocytoid cardiomyopathy" ], "alt_id": [], "def": "A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells.", "synonym": [ [ "arachnocytosis of the myocardium", "arachnocytosis of the myocardium" ], [ "foamy myocardial transformation", "foamy myocardial transformation" ], [ "focal lipid cardiomyopathy", "focal lipid cardiomyopathy" ], [ "infantile cardiomyopathy with histiocytoid changes", "infantile cardiomyopathy with histiocytoid change" ], [ "infantile xanthomatous cardiomyopathy", "infantile xanthomatous cardiomyopathy" ], [ "isolated cardiac lipidosis", "isolated cardiac lipidosis" ], [ "myocardial or conduction system hamartoma", "myocardial or conduction system hamartoma" ], [ "oncocytic cardiomyopathy", "oncocytic cardiomyopathy" ] ], "xref": [ "MSH:C535584", "UMLS:C1708371" ], "is_a": [ "HP:0001638" ], "is_obsolete": "", "replace_id": "" }, "HP:0005155": { "name": [ "ventricular escape rhythm", "ventricular escape rhythm" ], "alt_id": [], "def": "A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms).", "synonym": [ [ "idioventricular escape rhythm", "idioventricular escape rhythm" ] ], "xref": [ "SNOMEDCT_US:81898007", "UMLS:C0232216" ], "is_a": [ "HP:0004308" ], "is_obsolete": "", "replace_id": "" }, "HP:0005156": { "name": [ "hypoplastic left atrium", "hypoplastic leave atrium" ], "alt_id": [], "def": "Underdeveloped, small left heart atrium", "synonym": [ [ "left atrium hypoplasia", "left atrium hypoplasia" ], [ "underdeveloped left heart atrium", "underdeveloped leave heart atrium" ] ], "xref": [ "Fyler:3040", "UMLS:C1970625" ], "is_a": [ "HP:0025579" ], "is_obsolete": "", "replace_id": "" }, "HP:0005157": { "name": [ "concentric hypertrophic cardiomyopathy", "concentric hypertrophic cardiomyopathy" ], "alt_id": [ "HP:0001672" ], "def": "Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.", "synonym": [ [ "symmetric , concentric , hypertrophic cardiomyopathy", "symmetric , concentric , hypertrophic cardiomyopathy" ] ], "xref": [ "UMLS:C0238044" ], "is_a": [ "HP:0001639" ], "is_obsolete": "", "replace_id": "" }, "HP:0005160": { "name": [ "total anomalous pulmonary venous return", "total anomalous pulmonary venous return" ], "alt_id": [ "HP:0005153", "HP:0005175" ], "def": "Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium.", "synonym": [ [ "total anomalous pulmonary venous connection", "total anomalous pulmonary venous connection" ], [ "total anomalous pulmonary venous drainage", "total anomalous pulmonary venous drainage" ] ], "xref": [ "Fyler:0900", "Fyler:900", "MSH:D012587", "SNOMEDCT_US:111323005", "SNOMEDCT_US:39905002", "UMLS:C0036400" ], "is_a": [ "HP:0010772" ], "is_obsolete": "", "replace_id": "" }, "HP:0005162": { "name": [ "abnormal left ventricular function", "abnormal leave ventricular function" ], "alt_id": [ "HP:0005154" ], "def": "Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.", "synonym": [ [ "impaired left ventricular function", "impaired leave ventricular function" ], [ "left ventricular dysfunction", "leave ventricular dysfunction" ], [ "left ventricular failure", "leave ventricular failure" ], [ "left ventricular impairment", "leave ventricular impairment" ], [ "left - sided heart failure", "left - side heart failure" ] ], "xref": [ "MSH:D006333", "SNOMEDCT_US:275514001", "SNOMEDCT_US:85232009", "UMLS:C0023212", "UMLS:C0553982" ], "is_a": [ "HP:0030872" ], "is_obsolete": "", "replace_id": "" }, "HP:0005164": { "name": [ "dysplastic pulmonary valve", "dysplastic pulmonary valve" ], "alt_id": [], "def": "A congenital malformation of the pulmonary valve characterized by leaflet deformation.", "synonym": [], "xref": [ "UMLS:C1866206" ], "is_a": [ "HP:0001641" ], "is_obsolete": "", "replace_id": "" }, "HP:0005165": { "name": [ "shortened pr interval", "shorten pr interval" ], "alt_id": [], "def": "Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.", "synonym": [ [ "electrocardiographic short pr interval", "electrocardiographic short pr interval" ], [ "short p - r interval", "short p - r interval" ], [ "shortened pr interval on ekg", "shorten pr interval on ekg" ] ], "xref": [ "SNOMEDCT_US:49578007", "UMLS:C0520878" ], "is_a": [ "HP:0031593" ], "is_obsolete": "", "replace_id": "" }, "HP:0005168": { "name": [ "elevated right atrial pressure", "elevate right atrial pressure" ], "alt_id": [], "def": "An abnormal increase in magnitude of the pressure in the right atrium.", "synonym": [], "xref": [ "UMLS:C1867421" ], "is_a": [ "HP:0025443" ], "is_obsolete": "", "replace_id": "" }, "HP:0005170": { "name": [ "complete heart block with broad qrs complexes", "complete heart block with broad qrs complex" ], "alt_id": [], "def": "A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex.", "synonym": [], "xref": [ "UMLS:C1861987" ], "is_a": [ "HP:0001709" ], "is_obsolete": "", "replace_id": "" }, "HP:0005172": { "name": [ "left posterior fascicular block", "leave posterior fascicular block" ], "alt_id": [], "def": "Conduction block in the posterior division of the left bundle branch of the bundle of His.", "synonym": [ [ "left posterior hemiblock", "leave posterior hemiblock" ] ], "xref": [ "SNOMEDCT_US:62026008", "UMLS:C0264913" ], "is_a": [ "HP:0011713" ], "is_obsolete": "", "replace_id": "" }, "HP:0005173": { "name": [ "obsolete calcific aortic valve stenosis", "obsolete calcific aortic valve stenosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0004380" }, "HP:0005174": { "name": [ "membranous subvalvular aortic stenosis", "membranous subvalvular aortic stenosis" ], "alt_id": [], "def": "Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency.", "synonym": [], "xref": [ "UMLS:C1848978" ], "is_a": [ "HP:0001682" ], "is_obsolete": "", "replace_id": "" }, "HP:0005176": { "name": [ "dysplastic aortic valve", "dysplastic aortic valve" ], "alt_id": [], "def": "A congenital malformation of the aortic valve characterized by leaflet deformation.", "synonym": [], "xref": [ "UMLS:C1866207" ], "is_a": [ "HP:0001646" ], "is_obsolete": "", "replace_id": "" }, "HP:0005177": { "name": [ "premature arteriosclerosis", "premature arteriosclerosis" ], "alt_id": [], "def": "Arteriosclerosis occurring at an age that is younger than usual.", "synonym": [ [ "premature hardening of arteries", "premature hardening of artery" ] ], "xref": [ "UMLS:C1848486", "UMLS:C4280503" ], "is_a": [ "HP:0002634" ], "is_obsolete": "", "replace_id": "" }, "HP:0005178": { "name": [ "complete heart block with narrow qrs complexes", "complete heart block with narrow qrs complex" ], "alt_id": [], "def": "A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.", "synonym": [], "xref": [ "UMLS:C1841661" ], "is_a": [ "HP:0001709" ], "is_obsolete": "", "replace_id": "" }, "HP:0005180": { "name": [ "tricuspid regurgitation", "tricuspid regurgitation" ], "alt_id": [ "HP:0004753" ], "def": "Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.", "synonym": [ [ "tricuspid insufficiency", "tricuspid insufficiency" ], [ "tricuspid valve regurgitation", "tricuspid valve regurgitation" ] ], "xref": [ "Fyler:1161", "MSH:D014262", "SNOMEDCT_US:111287006", "UMLS:C0040961" ], "is_a": [ "HP:0031651" ], "is_obsolete": "", "replace_id": "" }, "HP:0005181": { "name": [ "premature coronary artery atherosclerosis", "premature coronary artery atherosclerosis" ], "alt_id": [], "def": "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.", "synonym": [ [ "premature coronary artery disease", "premature coronary artery disease" ] ], "xref": [ "UMLS:C1867743" ], "is_a": [ "HP:0001677" ], "is_obsolete": "", "replace_id": "" }, "HP:0005182": { "name": [ "bicuspid pulmonary valve", "bicuspid pulmonary valve" ], "alt_id": [], "def": "The presence of a bicuspid pulmonary valve.", "synonym": [], "xref": [ "Fyler:1601", "SNOMEDCT_US:253599005", "UMLS:C0344987" ], "is_a": [ "HP:0031566" ], "is_obsolete": "", "replace_id": "" }, "HP:0005183": { "name": [ "pericardial lymphangiectasia", "pericardial lymphangiectasia" ], "alt_id": [], "def": "An abnormal dilatation of lymph vessels in the pericardium.", "synonym": [], "xref": [ "UMLS:C1856140" ], "is_a": [ "HP:0001697", "HP:0031842" ], "is_obsolete": "", "replace_id": "" }, "HP:0005184": { "name": [ "prolonged qtc interval", "prolonged qtc interval" ], "alt_id": [], "def": "A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.", "synonym": [], "xref": [ "UMLS:C1560305" ], "is_a": [ "HP:0001657" ], "is_obsolete": "", "replace_id": "" }, "HP:0005185": { "name": [ "global systolic dysfunction", "global systolic dysfunction" ], "alt_id": [], "def": "A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly.", "synonym": [], "xref": [ "UMLS:C1847397" ], "is_a": [ "HP:0006673" ], "is_obsolete": "", "replace_id": "" }, "HP:0005186": { "name": [ "synovial hypertrophy", "synovial hypertrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D013585", "SNOMEDCT_US:240206002", "UMLS:C0410574" ], "is_a": [ "HP:0005262" ], "is_obsolete": "", "replace_id": "" }, "HP:0005187": { "name": [ "progressive joint destruction", "progressive joint destruction" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025243" ], "is_a": [ "HP:0001367" ], "is_obsolete": "", "replace_id": "" }, "HP:0005190": { "name": [ "proximal finger joint hyperextensibility", "proximal finger joint hyperextensibility" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025242" ], "is_a": [ "HP:0001187" ], "is_obsolete": "", "replace_id": "" }, "HP:0005191": { "name": [ "congenital knee dislocation", "congenital knee dislocation" ], "alt_id": [], "def": "", "synonym": [ [ "dislocated knee since birth", "dislocate knee since birth" ] ], "xref": [ "SNOMEDCT_US:59068006", "UMLS:C0265669" ], "is_a": [ "HP:0004976" ], "is_obsolete": "", "replace_id": "" }, "HP:0005193": { "name": [ "restricted large joint movement", "restrict large joint movement" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025241" ], "is_a": [ "HP:0001376" ], "is_obsolete": "", "replace_id": "" }, "HP:0005194": { "name": [ "flattened metatarsal heads", "flatten metatarsal head" ], "alt_id": [], "def": "Abnormally flat shape of the heads of the metatarsal bones.", "synonym": [ [ "flattened head of long bone of foot", "flatten head of long bone of foot" ] ], "xref": [ "UMLS:C4025240" ], "is_a": [ "HP:0001832" ], "is_obsolete": "", "replace_id": "" }, "HP:0005195": { "name": [ "polyarticular arthropathy", "polyarticular arthropathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025239" ], "is_a": [ "HP:0003040" ], "is_obsolete": "", "replace_id": "" }, "HP:0005197": { "name": [ "generalized morning stiffness", "generalize morning stiffness" ], "alt_id": [], "def": "A sensation of stiffness in the joints that occurs following waking up in the morning.", "synonym": [ [ "generalised morning stiffness", "generalise morning stiffness" ] ], "xref": [ "UMLS:C4025238" ], "is_a": [ "HP:0001387" ], "is_obsolete": "", "replace_id": "" }, "HP:0005198": { "name": [ "stiff interphalangeal joints", "stiff interphalangeal joint" ], "alt_id": [], "def": "Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.", "synonym": [ [ "stiff hinge joints", "stiff hinge joint" ] ], "xref": [ "UMLS:C4025237" ], "is_a": [ "HP:0001387", "HP:0005262" ], "is_obsolete": "", "replace_id": "" }, "HP:0005199": { "name": [ "aplasia of the abdominal wall musculature", "aplasia of the abdominal wall musculature" ], "alt_id": [], "def": "Absence of the abdominal musculature.", "synonym": [ [ "absent abdominal musculature", "absent abdominal musculature" ] ], "xref": [ "UMLS:C3149223" ], "is_a": [ "HP:0010318" ], "is_obsolete": "", "replace_id": "" }, "HP:0005200": { "name": [ "retroperitoneal fibrosis", "retroperitoneal fibrosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D012185", "SNOMEDCT_US:49120005", "UMLS:C0035357" ], "is_a": [ "HP:0002585" ], "is_obsolete": "", "replace_id": "" }, "HP:0005201": { "name": [ "anomalous splenoportal venous system", "anomalous splenoportal venous system" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025236" ], "is_a": [ "HP:0031941" ], "is_obsolete": "", "replace_id": "" }, "HP:0005202": { "name": [ "helicobacter pylori infection", "helicobacter pylorus infection" ], "alt_id": [], "def": "A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.", "synonym": [], "xref": [ "UMLS:C0850666" ], "is_a": [ "HP:0004798" ], "is_obsolete": "", "replace_id": "" }, "HP:0005203": { "name": [ "spontaneous esophageal perforation", "spontaneous esophageal perforation" ], "alt_id": [ "HP:0005251" ], "def": "The occurrence of the full-thickness tear (perforation) of the wall of the esophagus.", "synonym": [ [ "boerhaave syndrome", "boerhaave syndrome" ], [ "spontaneous esophageal rupture", "spontaneous esophageal rupture" ] ], "xref": [ "MSH:C536571", "SNOMEDCT_US:19995004", "UMLS:C0238115" ], "is_a": [ "HP:0002031" ], "is_obsolete": "", "replace_id": "" }, "HP:0005206": { "name": [ "pancreatic pseudocyst", "pancreatic pseudocyst" ], "alt_id": [], "def": "Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.", "synonym": [], "xref": [ "MSH:D010192", "SNOMEDCT_US:111374002", "UMLS:C0030299" ], "is_a": [ "HP:0012090" ], "is_obsolete": "", "replace_id": "" }, "HP:0005207": { "name": [ "gastric hypertrophy", "gastric hypertrophy" ], "alt_id": [], "def": "Hypertrophy of the stomach.", "synonym": [ [ "increased stomach size", "increase stomach size" ] ], "xref": [ "UMLS:C1834341", "UMLS:C4280502" ], "is_a": [ "HP:0002577" ], "is_obsolete": "", "replace_id": "" }, "HP:0005208": { "name": [ "secretory diarrhea", "secretory diarrhea" ], "alt_id": [], "def": "Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.", "synonym": [ [ "secretory diarrhoea", "secretory diarrhoea" ] ], "xref": [ "SNOMEDCT_US:15699003", "UMLS:C0267557" ], "is_a": [ "HP:0002014" ], "is_obsolete": "", "replace_id": "" }, "HP:0005209": { "name": [ "intrahepatic bile duct cysts", "intrahepatic bile duct cyst" ], "alt_id": [], "def": "The presence of cyst of the intrahepatic bile duct.", "synonym": [], "xref": [ "SNOMEDCT_US:235925007", "UMLS:C0400991" ], "is_a": [ "HP:0011040" ], "is_obsolete": "", "replace_id": "" }, "HP:0005210": { "name": [ "hypoplastic colon", "hypoplastic colon" ], "alt_id": [], "def": "Underdevelopment of the colon.", "synonym": [ [ "hypoplasia of the colon", "hypoplasia of the colon" ], [ "underdeveloped colon", "underdeveloped colon" ] ], "xref": [ "UMLS:C1392839" ], "is_a": [ "HP:0100811" ], "is_obsolete": "", "replace_id": "" }, "HP:0005211": { "name": [ "midgut malrotation", "midgut malrotation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1849706" ], "is_a": [ "HP:0002566" ], "is_obsolete": "", "replace_id": "" }, "HP:0005212": { "name": [ "anal mucosal leukoplakia", "anal mucosal leukoplakia" ], "alt_id": [], "def": "Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation.", "synonym": [], "xref": [ "UMLS:C1844632" ], "is_a": [ "HP:0004378" ], "is_obsolete": "", "replace_id": "" }, "HP:0005213": { "name": [ "pancreatic calcification", "pancreatic calcification" ], "alt_id": [], "def": "The presence of abnormal calcium deposition lesions in the pancreas.", "synonym": [ [ "pancreatic calcifications", "pancreatic calcification" ] ], "xref": [ "UMLS:C1842406" ], "is_a": [ "HP:0010766", "HP:0012090" ], "is_obsolete": "", "replace_id": "" }, "HP:0005214": { "name": [ "intestinal obstruction", "intestinal obstruction" ], "alt_id": [ "HP:0005239" ], "def": "Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.", "synonym": [ [ "bowel obstruction", "bowel obstruction" ], [ "intestinal blockage", "intestinal blockage" ], [ "intestinal obstruction", "intestinal obstruction" ] ], "xref": [ "MSH:D007415", "SNOMEDCT_US:81060008", "UMLS:C0021843" ], "is_a": [ "HP:0002242", "HP:0004796" ], "is_obsolete": "", "replace_id": "" }, "HP:0005215": { "name": [ "frequent giardia lamblia infestation", "frequent giardia lamblia infestation" ], "alt_id": [], "def": "Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.", "synonym": [], "xref": [ "UMLS:C4025235" ], "is_a": [ "HP:0004798" ], "is_obsolete": "", "replace_id": "" }, "HP:0005216": { "name": [ "impaired mastication", "impaired mastication" ], "alt_id": [], "def": "An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.", "synonym": [ [ "chewing difficulties", "chew difficulty" ], [ "chewing difficulty", "chew difficulty" ], [ "difficulty chewing", "difficulty chew" ] ], "xref": [ "SNOMEDCT_US:162020001", "UMLS:C0239043" ], "is_a": [ "HP:0031815" ], "is_obsolete": "", "replace_id": "" }, "HP:0005217": { "name": [ "duplication of internal organs", "duplication of internal organ" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025234" ], "is_a": [ "HP:0001438" ], "is_obsolete": "", "replace_id": "" }, "HP:0005218": { "name": [ "anoperineal fistula", "anoperineal fistula" ], "alt_id": [], "def": "The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.", "synonym": [ [ "perianal fistula", "perianal fistula" ] ], "xref": [ "UMLS:C1835798" ], "is_a": [ "HP:0004871", "HP:0010447" ], "is_obsolete": "", "replace_id": "" }, "HP:0005219": { "name": [ "absence of intrinsic factor", "absence of intrinsic factor" ], "alt_id": [], "def": "Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.", "synonym": [ [ "intrinsic factor absent from gastric juice", "intrinsic factor absent from gastric juice" ] ], "xref": [ "UMLS:C4021641" ], "is_a": [ "HP:0002577" ], "is_obsolete": "", "replace_id": "" }, "HP:0005220": { "name": [ "multiple intestinal neurofibromatosis", "multiple intestinal neurofibromatosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025233" ], "is_a": [ "HP:0001067", "HP:0002242", "HP:0007378" ], "is_obsolete": "", "replace_id": "" }, "HP:0005222": { "name": [ "bowel diverticulosis", "bowel diverticulosis" ], "alt_id": [], "def": "The presence of multiple diverticula of the intestine.", "synonym": [ [ "bowel diverticula", "bowel diverticulum" ] ], "xref": [ "UMLS:C1394691", "UMLS:C1395674" ], "is_a": [ "HP:0002242" ], "is_obsolete": "", "replace_id": "" }, "HP:0005223": { "name": [ "duplicated colon", "duplicate colon" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850328" ], "is_a": [ "HP:0002250", "HP:0100668" ], "is_obsolete": "", "replace_id": "" }, "HP:0005224": { "name": [ "rectal abscess", "rectal abscess" ], "alt_id": [ "HP:0002567" ], "def": "A collection of pus in the area of the rectum.", "synonym": [ [ "perirectal abscess", "perirectal abscess" ] ], "xref": [ "SNOMEDCT_US:197166005", "SNOMEDCT_US:91669008", "UMLS:C0149770", "UMLS:C0267566" ], "is_a": [ "HP:0002034", "HP:0025615" ], "is_obsolete": "", "replace_id": "" }, "HP:0005225": { "name": [ "intestinal edema", "intestinal edema" ], "alt_id": [], "def": "Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.", "synonym": [ [ "intestinal oedema", "intestinal oedema" ] ], "xref": [ "UMLS:C1142262" ], "is_a": [ "HP:0000969", "HP:0002242" ], "is_obsolete": "", "replace_id": "" }, "HP:0005227": { "name": [ "adenomatous colonic polyposis", "adenomatous colonic polyposis" ], "alt_id": [ "HP:0005226" ], "def": "Presence of multiple adenomatous polyps in the colon.", "synonym": [ [ "multiple adenomatous colon polyps", "multiple adenomatous colon polyp" ], [ "multiple colonic adenomatous polyps", "multiple colonic adenomatous polyp" ] ], "xref": [ "MEDDRA:10056981 \"Adenomatous polyposis coli\"", "UMLS:C1868071" ], "is_a": [ "HP:0030255", "HP:0100273" ], "is_obsolete": "", "replace_id": "" }, "HP:0005229": { "name": [ "jejunoileal ulceration", "jejunoileal ulceration" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025232" ], "is_a": [ "HP:0001549", "HP:0005265" ], "is_obsolete": "", "replace_id": "" }, "HP:0005230": { "name": [ "biliary tract obstruction", "biliary tract obstruction" ], "alt_id": [], "def": "Obstruction affecting the biliary tree.", "synonym": [], "xref": [ "SNOMEDCT_US:235918000", "UMLS:C0400979" ], "is_a": [ "HP:0012440" ], "is_obsolete": "", "replace_id": "" }, "HP:0005231": { "name": [ "chronic gastritis", "chronic gastritis" ], "alt_id": [], "def": "A chronic form of gastritis.", "synonym": [], "xref": [ "SNOMEDCT_US:8493009", "UMLS:C0085695" ], "is_a": [ "HP:0005263" ], "is_obsolete": "", "replace_id": "" }, "HP:0005232": { "name": [ "pancreatic dysplasia", "pancreatic dysplasia" ], "alt_id": [], "def": "The presence of developmental dysplasia of the pancreas.", "synonym": [], "xref": [ "UMLS:C4019084" ], "is_a": [ "HP:0012090" ], "is_obsolete": "", "replace_id": "" }, "HP:0005233": { "name": [ "hypoplasia of the gallbladder", "hypoplasia of the gallbladder" ], "alt_id": [], "def": "The presence of a hypoplastic gallbladder.", "synonym": [ [ "hypoplastic gallbladder", "hypoplastic gallbladder" ] ], "xref": [ "SNOMEDCT_US:93259002", "UMLS:C0345282" ], "is_a": [ "HP:0011466" ], "is_obsolete": "", "replace_id": "" }, "HP:0005234": { "name": [ "neonatal intestinal obstruction", "neonatal intestinal obstruction" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C0859974" ], "is_a": [ "HP:0005214" ], "is_obsolete": "", "replace_id": "" }, "HP:0005235": { "name": [ "jejunal atresia", "jejunal atresia" ], "alt_id": [ "HP:0011101" ], "def": "A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum.", "synonym": [], "xref": [ "MSH:D007409", "SNOMEDCT_US:204702007", "SNOMEDCT_US:360491009", "UMLS:C0266175" ], "is_a": [ "HP:0005265", "HP:0011100" ], "is_obsolete": "", "replace_id": "" }, "HP:0005236": { "name": [ "chronic calcifying pancreatitis", "chronic calcifying pancreatitis" ], "alt_id": [], "def": "A form of chronic pancreatitis that is characterized by calcification.", "synonym": [], "xref": [ "UMLS:C4025231" ], "is_a": [ "HP:0001733" ], "is_obsolete": "", "replace_id": "" }, "HP:0005237": { "name": [ "degenerative liver disease", "degenerative liver disease" ], "alt_id": [], "def": "The presence of degenerative changes of the liver.", "synonym": [], "xref": [ "UMLS:C4025230" ], "is_a": [ "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0005238": { "name": [ "discrete intestinal polyps", "discrete intestinal polyp" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025229" ], "is_a": [ "HP:0200008" ], "is_obsolete": "", "replace_id": "" }, "HP:0005240": { "name": [ "esophageal obstruction", "esophageal obstruction" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:405247003", "UMLS:C0239296" ], "is_a": [ "HP:0002031", "HP:0004796" ], "is_obsolete": "", "replace_id": "" }, "HP:0005241": { "name": [ "total intestinal aganglionosis", "total intestinal aganglionosis" ], "alt_id": [], "def": "A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel.", "synonym": [], "xref": [ "MSH:C538058", "SNOMEDCT_US:204745000", "UMLS:C0345240" ], "is_a": [ "HP:0004362" ], "is_obsolete": "", "replace_id": "" }, "HP:0005242": { "name": [ "extrahepatic biliary duct atresia", "extrahepatic biliary duct atresia" ], "alt_id": [ "HP:0006553" ], "def": "Atresia in the extrahepatic bile duct.", "synonym": [ [ "biliary atresia , extrahepatic", "biliary atresia , extrahepatic" ] ], "xref": [ "MSH:D001656", "SNOMEDCT_US:77480004", "SNOMEDCT_US:82821008", "UMLS:C0005411" ], "is_a": [ "HP:0005912" ], "is_obsolete": "", "replace_id": "" }, "HP:0005243": { "name": [ "partial abdominal muscle agenesis", "partial abdominal muscle agenesis" ], "alt_id": [], "def": "Failure to form of portions of the abdominal musculature.", "synonym": [], "xref": [ "UMLS:C4025228" ], "is_a": [ "HP:0010318" ], "is_obsolete": "", "replace_id": "" }, "HP:0005244": { "name": [ "gastrointestinal infarctions", "gastrointestinal infarction" ], "alt_id": [], "def": "", "synonym": [ [ "death of digestive organ tissue due to poor blood supply", "death of digestive organ tissue due to poor blood supply" ], [ "gi infarctions", "gi infarction" ] ], "xref": [ "UMLS:C3152231" ], "is_a": [ "HP:0012719" ], "is_obsolete": "", "replace_id": "" }, "HP:0005245": { "name": [ "intestinal hypoplasia", "intestinal hypoplasia" ], "alt_id": [], "def": "Developmental hypoplasia of the intestine.", "synonym": [ [ "hypoplastic intestines", "hypoplastic intestine" ], [ "underdeveloped instestine", "underdeveloped instestine" ] ], "xref": [ "UMLS:C4021640" ], "is_a": [ "HP:0002242" ], "is_obsolete": "", "replace_id": "" }, "HP:0005246": { "name": [ "giant hypertrophic gastritis", "giant hypertrophic gastritis" ], "alt_id": [], "def": "A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds.", "synonym": [ [ "menetrier disease", "menetrier disease" ] ], "xref": [ "MSH:D005758", "SNOMEDCT_US:413219009", "SNOMEDCT_US:60002000", "UMLS:C0017155" ], "is_a": [ "HP:0005263" ], "is_obsolete": "", "replace_id": "" }, "HP:0005247": { "name": [ "hypoplasia of the abdominal wall musculature", "hypoplasia of the abdominal wall musculature" ], "alt_id": [], "def": "Underdevelopment of the abdominal musculature.", "synonym": [ [ "abdominal muscular hypoplasia", "abdominal muscular hypoplasia" ] ], "xref": [ "UMLS:C3279407" ], "is_a": [ "HP:0010318" ], "is_obsolete": "", "replace_id": "" }, "HP:0005248": { "name": [ "intrahepatic biliary atresia", "intrahepatic biliary atresia" ], "alt_id": [], "def": "Atresia in the intrahepatic bile duct.", "synonym": [ [ "bile duct paucity", "bile duct paucity" ], [ "intrahepatic atresia of biliary duct", "intrahepatic atresia of biliary duct" ] ], "xref": [ "UMLS:C1855284" ], "is_a": [ "HP:0005912", "HP:0011040" ], "is_obsolete": "", "replace_id": "" }, "HP:0005249": { "name": [ "functional intestinal obstruction", "functional intestinal obstruction" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3639956" ], "is_a": [ "HP:0004796" ], "is_obsolete": "", "replace_id": "" }, "HP:0005250": { "name": [ "high intestinal obstruction", "high intestinal obstruction" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025227" ], "is_a": [ "HP:0005214" ], "is_obsolete": "", "replace_id": "" }, "HP:0005253": { "name": [ "increased anterioposterior diameter of thorax", "increase anterioposterior diameter of thorax" ], "alt_id": [], "def": "", "synonym": [ [ "increased anterioposterior diameter of chest", "increase anterioposterior diameter of chest" ] ], "xref": [ "UMLS:C1848760" ], "is_a": [ "HP:0100625" ], "is_obsolete": "", "replace_id": "" }, "HP:0005254": { "name": [ "unilateral chest hypoplasia", "unilateral chest hypoplasia" ], "alt_id": [], "def": "", "synonym": [ [ "small chest on one side", "small chest on one side" ], [ "underdeveloped chest on one side", "underdeveloped chest on one side" ] ], "xref": [ "UMLS:C1845576" ], "is_a": [ "HP:0005257" ], "is_obsolete": "", "replace_id": "" }, "HP:0005255": { "name": [ "absence of pectoralis minor muscle", "absence of pectoralis minor muscle" ], "alt_id": [], "def": "Aplasia (congenital absence) of the pectoralis minor.", "synonym": [ [ "pectoralis minor aplasia", "pectoralis minor aplasia" ] ], "xref": [ "UMLS:C1868158" ], "is_a": [ "HP:0011957" ], "is_obsolete": "", "replace_id": "" }, "HP:0005256": { "name": [ "unilateral absence of pectoralis major muscle", "unilateral absence of pectoralis major muscle" ], "alt_id": [], "def": "Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.", "synonym": [ [ "unilateral aplasia of pectoralis major muscle", "unilateral aplasia of pectoralis major muscle" ] ], "xref": [ "UMLS:C4021639" ], "is_a": [ "HP:0011957" ], "is_obsolete": "", "replace_id": "" }, "HP:0005257": { "name": [ "thoracic hypoplasia", "thoracic hypoplasia" ], "alt_id": [ "HP:0001590" ], "def": "", "synonym": [ [ "small chest", "small chest" ], [ "small thorax", "small thorax" ] ], "xref": [ "UMLS:C1837482" ], "is_a": [ "HP:0000765" ], "is_obsolete": "", "replace_id": "" }, "HP:0005258": { "name": [ "pectoral muscle hypoplasia / aplasia", "pectoral muscle hypoplasia / aplasia" ], "alt_id": [], "def": "", "synonym": [ [ "small / absent pec muscle", "small / absent pec muscle" ], [ "underdeveloped / absent pec muscle", "underdeveloped / absent pec muscle" ] ], "xref": [ "UMLS:C4025226" ], "is_a": [ "HP:0001435" ], "is_obsolete": "", "replace_id": "" }, "HP:0005259": { "name": [ "abnormal facility in opposing the shoulders", "abnormal facility in oppose the shoulder" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1861517" ], "is_a": [ "HP:0001547" ], "is_obsolete": "", "replace_id": "" }, "HP:0005261": { "name": [ "joint hemorrhage", "joint hemorrhage" ], "alt_id": [ "HP:0001391", "HP:0005196" ], "def": "Hemorrhage occurring within a joint.", "synonym": [ [ "bleeding within a joint", "bleed within a joint" ], [ "hemarthroses", "hemarthroses" ], [ "hemarthrosis", "hemarthrosis" ], [ "joint haemorrhage", "joint haemorrhage" ], [ "spontaneous joint haemorrhage", "spontaneous joint haemorrhage" ], [ "spontaneous joint hemorrhage", "spontaneous joint hemorrhage" ] ], "xref": [ "MSH:D006395", "SNOMEDCT_US:81808003", "UMLS:C0018924" ], "is_a": [ "HP:0001367", "HP:0011029" ], "is_obsolete": "", "replace_id": "" }, "HP:0005262": { "name": [ "abnormality of the synovia", "abnormality of the synovia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025225" ], "is_a": [ "HP:0001367" ], "is_obsolete": "", "replace_id": "" }, "HP:0005263": { "name": [ "gastritis", "gastritis" ], "alt_id": [], "def": "The presence of inflammation of the gastric mucous membrane.", "synonym": [ [ "stomach inflammation", "stomach inflammation" ] ], "xref": [ "MEDDRA:10017853 \"Gastritis\"", "MSH:D005756", "SNOMEDCT_US:4556007", "UMLS:C0017152" ], "is_a": [ "HP:0004295" ], "is_obsolete": "", "replace_id": "" }, "HP:0005264": { "name": [ "abnormality of the gallbladder", "abnormality of the gallbladder" ], "alt_id": [], "def": "An abnormality of the gallbladder.", "synonym": [ [ "abnormality of the gallbladder", "abnormality of the gallbladder" ], [ "anomaly of the gallbladder", "anomaly of the gallbladder" ] ], "xref": [ "SNOMEDCT_US:253803008", "SNOMEDCT_US:49714001", "UMLS:C0266249" ], "is_a": [ "HP:0004297" ], "is_obsolete": "", "replace_id": "" }, "HP:0005265": { "name": [ "abnormal jejunum morphology", "abnormal jejunum morphology" ], "alt_id": [], "def": "An abnormality of the jejunum, i.e., of the middle section of the small intestine.", "synonym": [ [ "abnormality of the jejunum", "abnormality of the jejunum" ] ], "xref": [ "UMLS:C4025224" ], "is_a": [ "HP:0002244" ], "is_obsolete": "", "replace_id": "" }, "HP:0005266": { "name": [ "intestinal polyp", "intestinal polyp" ], "alt_id": [], "def": "A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.", "synonym": [ [ "intestinal polyps", "intestinal polyp" ] ], "xref": [ "MSH:D007417", "SNOMEDCT_US:254588001", "UMLS:C0021846" ], "is_a": [ "HP:0002242", "HP:0007378" ], "is_obsolete": "", "replace_id": "" }, "HP:0005267": { "name": [ "premature delivery because of cervical insufficiency or membrane fragility", "premature delivery because of cervical insufficiency or membrane fragility" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1851808" ], "is_a": [ "HP:0001622" ], "is_obsolete": "", "replace_id": "" }, "HP:0005268": { "name": [ "spontaneous abortion", "spontaneous abortion" ], "alt_id": [], "def": "A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy.", "synonym": [ [ "miscarriage", "miscarriage" ] ], "xref": [ "MSH:D000022", "SNOMEDCT_US:17369002", "UMLS:C0000786" ], "is_a": [ "HP:0001787" ], "is_obsolete": "", "replace_id": "" }, "HP:0005272": { "name": [ "prominent nasolabial fold", "prominent nasolabial fold" ], "alt_id": [], "def": "Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).", "synonym": [ [ "deep laugh lines", "deep laugh line" ], [ "deep nasolabial crease", "deep nasolabial crease" ], [ "deep nasolabial fold", "deep nasolabial fold" ], [ "deep nasolabial groove", "deep nasolabial groove" ], [ "deep smile lines", "deep smile line" ], [ "nasolabial crease , prominent", "nasolabial crease , prominent" ], [ "prominent laugh lines", "prominent laugh line" ], [ "prominent nasolabial groove", "prominent nasolabial groove" ], [ "prominent smile lines", "prominent smile line" ] ], "xref": [ "UMLS:C1866487" ], "is_a": [ "HP:0005289" ], "is_obsolete": "", "replace_id": "" }, "HP:0005273": { "name": [ "absent nasal septal cartilage", "absent nasal septal cartilage" ], "alt_id": [], "def": "Lack of the cartilage of the nasal septum.", "synonym": [ [ "absent nasal septal cartilage", "absent nasal septal cartilage" ], [ "absent nasal septum", "absent nasal septum" ], [ "ageneis of nasal septal cartilage", "ageneis of nasal septal cartilage" ], [ "failure of development of nasal septal cartilage", "failure of development of nasal septal cartilage" ] ], "xref": [ "UMLS:C4021638", "UMLS:C4280501" ], "is_a": [ "HP:0009935", "HP:3000034" ], "is_obsolete": "", "replace_id": "" }, "HP:0005274": { "name": [ "prominent nasal tip", "prominent nasal tip" ], "alt_id": [], "def": "", "synonym": [ [ "bulbous tip of nose", "bulbous tip of nose" ], [ "hyperplasia of nasal tip", "hyperplasia of nasal tip" ], [ "hyperplasia of tip of nose", "hyperplasia of tip of nose" ], [ "hypertrophy of nasal tip", "hypertrophy of nasal tip" ], [ "hypertrophy of tip of nose", "hypertrophy of tip of nose" ], [ "large nasal tip", "large nasal tip" ], [ "large tip of nose", "large tip of nose" ], [ "prominent nasal tip", "prominent nasal tip" ], [ "prominent tip of nose", "prominent tip of nose" ], [ "pronounced nasal tip", "pronounce nasal tip" ], [ "pronounced tip of nose", "pronounced tip of nose" ] ], "xref": [ "UMLS:C1856118", "UMLS:C4280498", "UMLS:C4280499", "UMLS:C4280500" ], "is_a": [ "HP:0000436" ], "is_obsolete": "", "replace_id": "" }, "HP:0005275": { "name": [ "cartilaginous ossification of nose", "cartilaginous ossification of nose" ], "alt_id": [], "def": "", "synonym": [ [ "cartilaginous nasal ossification", "cartilaginous nasal ossification" ] ], "xref": [ "UMLS:C1855616" ], "is_a": [ "HP:0000429" ], "is_obsolete": "", "replace_id": "" }, "HP:0005278": { "name": [ "hypoplastic nasal tip", "hypoplastic nasal tip" ], "alt_id": [], "def": "", "synonym": [ [ "aplasia of nasal tip", "aplasia of nasal tip" ], [ "decreased size of nasal tip", "decreased size of nasal tip" ], [ "decreased size of tip of nose", "decreased size of tip of nose" ], [ "deficient nasal tip", "deficient nasal tip" ], [ "hypoplasia of tip of nose", "hypoplasia of tip of nose" ], [ "hypotrophic nasal tip", "hypotrophic nasal tip" ], [ "hypotrophic tip of nose", "hypotrophic tip of nose" ], [ "small nasal tip", "small nasal tip" ], [ "small tip of nose", "small tip of nose" ], [ "underdevelopment of nasal tip", "underdevelopment of nasal tip" ], [ "underdevelopment of tip of nose", "underdevelopment of tip of nose" ] ], "xref": [ "UMLS:C1844731", "UMLS:C4280496", "UMLS:C4280497" ], "is_a": [ "HP:0000436" ], "is_obsolete": "", "replace_id": "" }, "HP:0005280": { "name": [ "depressed nasal bridge", "depress nasal bridge" ], "alt_id": [ "HP:0000425", "HP:0000428", "HP:0000439", "HP:0000459", "HP:0004413", "HP:0004505", "HP:0004506", "HP:0004666", "HP:0005119", "HP:0005284" ], "def": "Posterior positioning of the nasal root in relation to the overall facial profile for age.", "synonym": [ [ "concave bridge of nose", "concave bridge of nose" ], [ "concave nasal bridge", "concave nasal bridge" ], [ "depressed bridge of nose", "depressed bridge of nose" ], [ "depressed nasal bridge", "depress nasal bridge" ], [ "depressed nasal root", "depress nasal root" ], [ "depressed nasal root / bridge", "depress nasal root / bridge" ], [ "flat bridge of nose", "flat bridge of nose" ], [ "flat nasal bridge", "flat nasal bridge" ], [ "flat nasal root", "flat nasal root" ], [ "flat , nasal bridge", "flat , nasal bridge" ], [ "flattened nasal bridge", "flatten nasal bridge" ], [ "low nasal bridge", "low nasal bridge" ], [ "low nasal root", "low nasal root" ], [ "retruded bridge of nose", "retruded bridge of nose" ], [ "retruded nasal bridge", "retruded nasal bridge" ] ], "xref": [ "UMLS:C1836542", "UMLS:C3550546", "UMLS:C4280495" ], "is_a": [ "HP:0000422" ], "is_obsolete": "", "replace_id": "" }, "HP:0005281": { "name": [ "hypoplastic nasal bridge", "hypoplastic nasal bridge" ], "alt_id": [], "def": "", "synonym": [ [ "decreased size of bridge of nose", "decreased size of bridge of nose" ], [ "decreased size of nasal bridge", "decreased size of nasal bridge" ], [ "hypoplastic bridge of nose", "hypoplastic bridge of nose" ], [ "hypotrophic bridge of nose", "hypotrophic bridge of nose" ], [ "hypotrophic nasal bridge", "hypotrophic nasal bridge" ], [ "small bridge of nose", "small bridge of nose" ], [ "small nasal bridge", "small nasal bridge" ] ], "xref": [ "UMLS:C1865597", "UMLS:C4280494" ], "is_a": [ "HP:0000422" ], "is_obsolete": "", "replace_id": "" }, "HP:0005285": { "name": [ "absent nasal bridge", "absent nasal bridge" ], "alt_id": [], "def": "", "synonym": [ [ "absent bridge of nose", "absent bridge of nose" ], [ "absent nasal bridge", "absent nasal bridge" ], [ "agenesis of bridge of nose", "agenesis of bridge of nose" ], [ "agenesis of nasal bridge", "agenesis of nasal bridge" ], [ "missing bridge of nose", "miss bridge of nose" ], [ "missing nasal bridge", "miss nasal bridge" ] ], "xref": [ "UMLS:C1837888" ], "is_a": [ "HP:0000422" ], "is_obsolete": "", "replace_id": "" }, "HP:0005288": { "name": [ "abnormality of the nares", "abnormality of the naris" ], "alt_id": [], "def": "Abnormality of the nostril.", "synonym": [ [ "abnormality of the nostrils", "abnormality of the nostril" ], [ "anomaly of the nares", "anomaly of the naris" ], [ "deformity of the nares", "deformity of the naris" ], [ "deformity of the nostrils", "deformity of the nostril" ], [ "malformation of the nares", "malformation of the naris" ], [ "malformation of the nostrils", "malformation of the nostril" ] ], "xref": [ "UMLS:C4021637" ], "is_a": [ "HP:0000366" ], "is_obsolete": "", "replace_id": "" }, "HP:0005289": { "name": [ "abnormality of the nasolabial region", "abnormality of the nasolabial region" ], "alt_id": [], "def": "", "synonym": [ [ "anomaly of the nasolabial region", "anomaly of the nasolabial region" ], [ "deformity of the nasolabial region", "deformity of the nasolabial region" ], [ "malformation of the nasolabial region", "malformation of the nasolabial region" ] ], "xref": [ "UMLS:C4025223" ], "is_a": [ "HP:0000366" ], "is_obsolete": "", "replace_id": "" }, "HP:0005290": { "name": [ "internal carotid artery hypoplasia", "internal carotid artery hypoplasia" ], "alt_id": [], "def": "", "synonym": [ [ "aplasia of internal carotid artery", "aplasia of internal carotid artery" ], [ "decreased size of internal carotid artery", "decreased size of internal carotid artery" ], [ "deficiency of internal carotid artery", "deficiency of internal carotid artery" ], [ "hypotrophic internal carotid artery", "hypotrophic internal carotid artery" ], [ "small internal carotid artery", "small internal carotid artery" ] ], "xref": [ "UMLS:C1855736", "UMLS:C4280491", "UMLS:C4280492", "UMLS:C4280493" ], "is_a": [ "HP:3000062" ], "is_obsolete": "", "replace_id": "" }, "HP:0005291": { "name": [ "inflammatory arteriopathy", "inflammatory arteriopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025222" ], "is_a": [ "HP:0002633" ], "is_obsolete": "", "replace_id": "" }, "HP:0005292": { "name": [ "intimal thickening in the coronary arteries", "intimal thickening in the coronary artery" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1968633" ], "is_a": [ "HP:0006704" ], "is_obsolete": "", "replace_id": "" }, "HP:0005293": { "name": [ "venous insufficiency", "venous insufficiency" ], "alt_id": [], "def": "", "synonym": [ [ "poorly functioning veins", "poorly functioning vein" ] ], "xref": [ "MSH:D014689", "SNOMEDCT_US:20696009", "UMLS:C0042485" ], "is_a": [ "HP:0002624" ], "is_obsolete": "", "replace_id": "" }, "HP:0005294": { "name": [ "arterial dissection", "arterial dissection" ], "alt_id": [], "def": "A separation (dissection) of the layers of an artery.", "synonym": [], "xref": [ "MSH:D000784", "SNOMEDCT_US:233992003", "SNOMEDCT_US:26845001", "SNOMEDCT_US:710864009", "SNOMEDCT_US:9406001", "UMLS:C0002949" ], "is_a": [ "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:0005295": { "name": [ "pseudocoarctation of the aorta", "pseudocoarctation of the aorta" ], "alt_id": [], "def": "Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.", "synonym": [], "xref": [ "SNOMEDCT_US:70602002", "UMLS:C0345088" ], "is_a": [ "HP:0012303" ], "is_obsolete": "", "replace_id": "" }, "HP:0005296": { "name": [ "obsolete occlusive vascular disease", "obsolete occlusive vascular disease" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0004950" }, "HP:0005297": { "name": [ "premature occlusive vascular stenosis", "premature occlusive vascular stenosis" ], "alt_id": [], "def": "Peripheral arterial stenosis with onset before the age of 50 years.", "synonym": [], "xref": [ "UMLS:C1867457" ], "is_a": [ "HP:0004950" ], "is_obsolete": "", "replace_id": "" }, "HP:0005298": { "name": [ "obsolete atrioventricular canal defect with right ventricle aorta and pulmonary atresia", "obsolete atrioventricular canal defect with right ventricle aorta and pulmonary atresia" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0006695" }, "HP:0005299": { "name": [ "obsolete premature peripheral vascular disease", "obsolete premature peripheral vascular disease" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0004950" }, "HP:0005300": { "name": [ "nodular inflammatory vasculitis", "nodular inflammatory vasculitis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025219" ], "is_a": [ "HP:0002633" ], "is_obsolete": "", "replace_id": "" }, "HP:0005301": { "name": [ "persistent left superior vena cava", "persistent leave superior vena cava" ], "alt_id": [], "def": "A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.", "synonym": [], "xref": [ "SNOMEDCT_US:77978002", "UMLS:C0265931" ], "is_a": [ "HP:0025575" ], "is_obsolete": "", "replace_id": "" }, "HP:0005302": { "name": [ "carotid artery tortuosity", "carotid artery tortuosity" ], "alt_id": [], "def": "Abnormal tortuous (i.e., twisted) form of the carotid arteries.", "synonym": [ [ "tortuous carotid arteries", "tortuous carotid artery" ] ], "xref": [ "SNOMEDCT_US:401051003", "UMLS:C1303076" ], "is_a": [ "HP:0005116", "HP:0005344" ], "is_obsolete": "", "replace_id": "" }, "HP:0005303": { "name": [ "aortic arch calcification", "aortic arch calcification" ], "alt_id": [], "def": "Calcification, that is, pathological deposition of calcium salts in the arch of aorta.", "synonym": [], "xref": [ "UMLS:C1969291" ], "is_a": [ "HP:0004962" ], "is_obsolete": "", "replace_id": "" }, "HP:0005304": { "name": [ "hypoplastic pulmonary veins", "hypoplastic pulmonary vein" ], "alt_id": [], "def": "", "synonym": [ [ "underdeveloped lung veins", "underdeveloped lung vein" ] ], "xref": [ "UMLS:C1970501" ], "is_a": [ "HP:0030968" ], "is_obsolete": "", "replace_id": "" }, "HP:0005305": { "name": [ "cerebral venous thrombosis", "cerebral venous thrombosis" ], "alt_id": [], "def": "Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.", "synonym": [ [ "blood clot in cerebral vein", "blood clot in cerebral vein" ], [ "cerebral thrombosis", "cerebral thrombosis" ], [ "cerebral vein thrombosis", "cerebral vein thrombosis" ] ], "xref": [ "SNOMEDCT_US:95455008", "UMLS:C0151945" ], "is_a": [ "HP:0004936" ], "is_obsolete": "", "replace_id": "" }, "HP:0005306": { "name": [ "capillary hemangioma", "capillary hemangioma" ], "alt_id": [], "def": "The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.", "synonym": [ [ "capillary hemangioma", "capillary hemangioma" ], [ "strawberry birthmark", "strawberry birthmark" ] ], "xref": [ "MSH:D018324", "SNOMEDCT_US:195382003", "SNOMEDCT_US:254206003", "SNOMEDCT_US:402867006", "SNOMEDCT_US:56975005", "SNOMEDCT_US:83343001", "UMLS:C0206733" ], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0005307": { "name": [ "postural hypotension with compensatory tachycardia", "postural hypotension with compensatory tachycardia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850438" ], "is_a": [ "HP:0001278" ], "is_obsolete": "", "replace_id": "" }, "HP:0005308": { "name": [ "pulmonary artery vasoconstriction", "pulmonary artery vasoconstriction" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1867424" ], "is_a": [ "HP:0030967" ], "is_obsolete": "", "replace_id": "" }, "HP:0005309": { "name": [ "obsolete peripheral vascular insufficiency", "obsolete peripheral vascular insufficiency" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0004950" }, "HP:0005310": { "name": [ "large vessel vasculitis", "large vessel vasculitis" ], "alt_id": [], "def": "A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.", "synonym": [], "xref": [ "UMLS:C4025218" ], "is_a": [ "HP:0002633" ], "is_obsolete": "", "replace_id": "" }, "HP:0005311": { "name": [ "agenesis of pulmonary vessels", "agenesis of pulmonary vessel" ], "alt_id": [], "def": "A developmental defect characterized by the lack of formation of the pulmonary blood vessels.", "synonym": [ [ "absent lung vessels", "absent lung vessel" ] ], "xref": [ "UMLS:C1970630" ], "is_a": [ "HP:0004930" ], "is_obsolete": "", "replace_id": "" }, "HP:0005312": { "name": [ "pulmonary aterial intimal fibrosis", "pulmonary aterial intimal fibrosis" ], "alt_id": [], "def": "Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.", "synonym": [], "xref": [ "UMLS:C4025217" ], "is_a": [ "HP:0030966" ], "is_obsolete": "", "replace_id": "" }, "HP:0005313": { "name": [ "arterial fibromuscular dysplasia", "arterial fibromuscular dysplasia" ], "alt_id": [], "def": "An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer.", "synonym": [], "xref": [ "MSH:D005352", "SNOMEDCT_US:31653004", "SNOMEDCT_US:359553002", "UMLS:C0016052" ], "is_a": [ "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:0005314": { "name": [ "anomalous branches of internal carotid artery", "anomalous branch of internal carotid artery" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1847886" ], "is_a": [ "HP:0005344" ], "is_obsolete": "", "replace_id": "" }, "HP:0005315": { "name": [ "obsolete peripheral artery occlusive disease", "obsolete peripheral artery occlusive disease" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0004950" }, "HP:0005316": { "name": [ "peripheral pulmonary vessel aplasia", "peripheral pulmonary vessel aplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1848877" ], "is_a": [ "HP:0004930" ], "is_obsolete": "", "replace_id": "" }, "HP:0005317": { "name": [ "increased pulmonary vascular resistance", "increase pulmonary vascular resistance" ], "alt_id": [], "def": "Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.", "synonym": [], "xref": [ "UMLS:C1867423" ], "is_a": [ "HP:0030875" ], "is_obsolete": "", "replace_id": "" }, "HP:0005318": { "name": [ "cerebral vasculitis", "cerebral vasculitis" ], "alt_id": [], "def": "Inflammation of the blood vessels within the brain.", "synonym": [], "xref": [ "MSH:D020293", "SNOMEDCT_US:427020007", "UMLS:C0238051" ], "is_a": [ "HP:0002633", "HP:0100659" ], "is_obsolete": "", "replace_id": "" }, "HP:0005320": { "name": [ "lack of facial subcutaneous fat", "lack of facial subcutaneous fat" ], "alt_id": [], "def": "", "synonym": [ [ "lack of facial fat below the skin", "lack of facial fat below the skin" ] ], "xref": [ "UMLS:C3277426" ], "is_a": [ "HP:0003717" ], "is_obsolete": "", "replace_id": "" }, "HP:0005321": { "name": [ "mandibulofacial dysostosis", "mandibulofacial dysostosis" ], "alt_id": [], "def": "A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations.", "synonym": [ [ "treacher collins syndrome", "treacher collins syndrome" ] ], "xref": [ "MSH:D008342", "SNOMEDCT_US:82203000", "UMLS:C0242387" ], "is_a": [ "HP:0004439" ], "is_obsolete": "", "replace_id": "" }, "HP:0005322": { "name": [ "prominent nasal septum", "prominent nasal septum" ], "alt_id": [], "def": "", "synonym": [ [ "low hanging nasal septum", "low hang nasal septum" ], [ "low hanging septum of nose", "low hang septum of nose" ], [ "prominent nasal septum", "prominent nasal septum" ], [ "prominent septum of nose", "prominent septum of nose" ], [ "visible nasal septum", "visible nasal septum" ], [ "visible septum of nose", "visible septum of nose" ] ], "xref": [ "UMLS:C4025216", "UMLS:C4280489", "UMLS:C4280490" ], "is_a": [ "HP:0000419" ], "is_obsolete": "", "replace_id": "" }, "HP:0005323": { "name": [ "hemifacial hypertrophy", "hemifacial hypertrophy" ], "alt_id": [], "def": "Unilateral overgrowth of facial tissues, including muscles, bones and skin.", "synonym": [ [ "enlargement of half of face", "enlargement of half of face" ], [ "facial hemihyperplasia", "facial hemihyperplasia" ], [ "facial hemihypertophy", "facial hemihypertophy" ], [ "friedreich 's disease", "friedreich 's disease" ], [ "hemifacial enlargement", "hemifacial enlargement" ], [ "hypertrophy of half of face", "hypertrophy of half of face" ], [ "increase in size of half of face", "increase in size of half of face" ], [ "overgrowth of half of face", "overgrowth of half of face" ] ], "xref": [ "MSH:C563014", "MSH:D005621", "SNOMEDCT_US:10394003", "SNOMEDCT_US:697962004", "UMLS:C0016719", "UMLS:C1399354" ], "is_a": [ "HP:0000324" ], "is_obsolete": "", "replace_id": "" }, "HP:0005324": { "name": [ "disturbance of facial expression", "disturbance of facial expression" ], "alt_id": [], "def": "An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.", "synonym": [ [ "disturbance of facial expression", "disturbance of facial expression" ] ], "xref": [ "UMLS:C4025215" ], "is_a": [ "HP:0005346" ], "is_obsolete": "", "replace_id": "" }, "HP:0005325": { "name": [ "extension of hair growth on temples to lateral eyebrow", "extension of hair growth on temple to lateral eyebrow" ], "alt_id": [], "def": "A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.", "synonym": [ [ "unusual hairline with hair growth on temples extending to lateral eyebrow", "unusual hairline with hair growth on temple extend to lateral eyebrow" ] ], "xref": [ "UMLS:C1857455" ], "is_a": [ "HP:0000599" ], "is_obsolete": "", "replace_id": "" }, "HP:0005326": { "name": [ "hypoplastic philtrum", "hypoplastic philtrum" ], "alt_id": [ "HP:0005331" ], "def": "Underdevelopment of the philtrum.", "synonym": [ [ "small philtrum", "small philtrum" ] ], "xref": [ "UMLS:C1856886" ], "is_a": [ "HP:0000288" ], "is_obsolete": "", "replace_id": "" }, "HP:0005327": { "name": [ "loss of facial expression", "loss of facial expression" ], "alt_id": [], "def": "", "synonym": [ [ "loss of facial expression", "loss of facial expression" ] ], "xref": [ "UMLS:C1852476" ], "is_a": [ "HP:0004673" ], "is_obsolete": "", "replace_id": "" }, "HP:0005328": { "name": [ "progeroid facial appearance", "progeroid facial appearance" ], "alt_id": [ "HP:0000335", "HP:0005333" ], "def": "A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.", "synonym": [ [ "aged facial appearance", "age facial appearance" ], [ "premature aged appearance", "premature age appearance" ], [ "prematurely aged face", "prematurely age face" ], [ "prematurely aged facial appearance", "prematurely age facial appearance" ], [ "wizened face", "wizened face" ] ], "xref": [ "UMLS:C1857710" ], "is_a": [ "HP:0007495" ], "is_obsolete": "", "replace_id": "" }, "HP:0005329": { "name": [ "fixed facial expression", "fix facial expression" ], "alt_id": [], "def": "", "synonym": [ [ "fixed facial expression", "fix facial expression" ], [ "unchanging facial expression", "unchanging facial expression" ] ], "xref": [ "UMLS:C1855353" ], "is_a": [ "HP:0004673" ], "is_obsolete": "", "replace_id": "" }, "HP:0005332": { "name": [ "recurrent mandibular subluxations", "recurrent mandibular subluxation" ], "alt_id": [], "def": "Recurrent partial dislocations of the mandible.", "synonym": [], "xref": [ "UMLS:C1857011" ], "is_a": [ "HP:0000277", "HP:0032153" ], "is_obsolete": "", "replace_id": "" }, "HP:0005335": { "name": [ "sleepy facial expression", "sleepy facial expression" ], "alt_id": [], "def": "", "synonym": [ [ "sleepy facial expression", "sleepy facial expression" ], [ "somnolent facial expression", "somnolent facial expression" ] ], "xref": [ "UMLS:C4025214" ], "is_a": [ "HP:0005324" ], "is_obsolete": "", "replace_id": "" }, "HP:0005336": { "name": [ "forehead hyperpigmentation", "forehead hyperpigmentation" ], "alt_id": [], "def": "", "synonym": [ [ "darkening of the forehead", "darkening of the forehead" ] ], "xref": [ "UMLS:C1969673" ], "is_a": [ "HP:0000290", "HP:0007400" ], "is_obsolete": "", "replace_id": "" }, "HP:0005338": { "name": [ "sparse lateral eyebrow", "sparse lateral eyebrow" ], "alt_id": [ "HP:0004521", "HP:0009923" ], "def": "Decreased density/number and/or decreased diameter of lateral eyebrow hairs.", "synonym": [ [ "lateral hypoplasia of eyebrows", "lateral hypoplasia of eyebrow" ], [ "lateral thinning of eyebrows", "lateral thinning of eyebrow" ], [ "laterally sparse eyebrow", "laterally sparse eyebrow" ], [ "laterally sparse eyebrows", "laterally sparse eyebrow" ], [ "limited hair on end of eyebrow", "limited hair on end of eyebrow" ], [ "sparse lateral eyebrows", "sparse lateral eyebrow" ] ], "xref": [ "UMLS:C1857206" ], "is_a": [ "HP:0045075" ], "is_obsolete": "", "replace_id": "" }, "HP:0005339": { "name": [ "abnormality of complement system", "abnormality of complement system" ], "alt_id": [ "HP:0025541" ], "def": "An abnormality of the complement system.", "synonym": [], "xref": [ "UMLS:C4025213" ], "is_a": [ "HP:0005368" ], "is_obsolete": "", "replace_id": "" }, "HP:0005340": { "name": [ "spastic / hyperactive bladder", "spastic / hyperactive bladder" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1836904" ], "is_a": [ "HP:0000009" ], "is_obsolete": "", "replace_id": "" }, "HP:0005341": { "name": [ "autonomic bladder dysfunction", "autonomic bladder dysfunction" ], "alt_id": [], "def": "Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.", "synonym": [], "xref": [ "UMLS:C4025212" ], "is_a": [ "HP:0012332" ], "is_obsolete": "", "replace_id": "" }, "HP:0005343": { "name": [ "hypoplasia of the bladder", "hypoplasia of the bladder" ], "alt_id": [ "HP:0005342" ], "def": "Underdevelopment of the urinary bladder.", "synonym": [ [ "hypoplastic bladder", "hypoplastic bladder" ], [ "underdeveloped bladder", "underdeveloped bladder" ] ], "xref": [ "UMLS:C1855335" ], "is_a": [ "HP:0010476" ], "is_obsolete": "", "replace_id": "" }, "HP:0005344": { "name": [ "abnormal carotid artery morphology", "abnormal carotid artery morphology" ], "alt_id": [], "def": "Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.", "synonym": [ [ "abnormality of the carotid arteries", "abnormality of the carotid artery" ] ], "xref": [ "UMLS:C4025211" ], "is_a": [ "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:0005345": { "name": [ "abnormal vena cava morphology", "abnormal vena cava morphology" ], "alt_id": [ "HP:0030971" ], "def": "An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.", "synonym": [ [ "abnormality of the vena cava", "abnormality of the vena cava" ] ], "xref": [ "UMLS:C4025210" ], "is_a": [ "HP:0002624", "HP:0030962" ], "is_obsolete": "", "replace_id": "" }, "HP:0005346": { "name": [ "abnormal facial expression", "abnormal facial expression" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal facial expression", "abnormal facial expression" ] ], "xref": [ "UMLS:C4025209" ], "is_a": [ "HP:0000271" ], "is_obsolete": "", "replace_id": "" }, "HP:0005347": { "name": [ "cartilaginous trachea", "cartilaginous trachea" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1863363" ], "is_a": [ "HP:0002778" ], "is_obsolete": "", "replace_id": "" }, "HP:0005348": { "name": [ "inspiratory stridor", "inspiratory stridor" ], "alt_id": [], "def": "Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.", "synonym": [], "xref": [ "SNOMEDCT_US:58596002", "UMLS:C0677600" ], "is_a": [ "HP:0010307" ], "is_obsolete": "", "replace_id": "" }, "HP:0005349": { "name": [ "hypoplasia of the epiglottis", "hypoplasia of the epiglottis" ], "alt_id": [ "HP:0008746" ], "def": "Hypoplasia of the epiglottis.", "synonym": [ [ "hypoplastic epiglottis", "hypoplastic epiglottis" ] ], "xref": [ "UMLS:C1396772" ], "is_a": [ "HP:0010565" ], "is_obsolete": "", "replace_id": "" }, "HP:0005352": { "name": [ "severe t - cell immunodeficiency", "severe t - cell immunodeficiency" ], "alt_id": [], "def": "A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.", "synonym": [ [ "severe t - cell immunodeficiency", "severe t - cell immunodeficiency" ] ], "xref": [ "UMLS:C4025208" ], "is_a": [ "HP:0005374" ], "is_obsolete": "", "replace_id": "" }, "HP:0005353": { "name": [ "recurrent herpes", "recurrent herpes" ], "alt_id": [], "def": "Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.", "synonym": [ [ "susceptibility to herpesvirus", "susceptibility to herpesvirus" ] ], "xref": [ "UMLS:C4025207" ], "is_a": [ "HP:0004429" ], "is_obsolete": "", "replace_id": "" }, "HP:0005354": { "name": [ "lack of t cell function", "lack of t cell function" ], "alt_id": [], "def": "Complete inability of T cells to perform their functions in cell-mediated immunity.", "synonym": [ [ "absent cellular immunity", "absent cellular immunity" ] ], "xref": [ "UMLS:C1849426" ], "is_a": [ "HP:0011840" ], "is_obsolete": "", "replace_id": "" }, "HP:0005356": { "name": [ "decreased serum complement factor i", "decrease serum complement factor i" ], "alt_id": [], "def": "A reduced level of the complement component Factor I in circulation.", "synonym": [], "xref": [ "UMLS:C1970257" ], "is_a": [ "HP:0004431" ], "is_obsolete": "", "replace_id": "" }, "HP:0005357": { "name": [ "defective b cell differentiation", "defective b cell differentiation" ], "alt_id": [], "def": "Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.", "synonym": [], "xref": [ "UMLS:C1859624" ], "is_a": [ "HP:0005384" ], "is_obsolete": "", "replace_id": "" }, "HP:0005359": { "name": [ "aplasia of the thymus", "aplasia of the thymus" ], "alt_id": [], "def": "Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.", "synonym": [ [ "absent thymic shadow", "absent thymic shadow" ], [ "absent thymus", "absent thymus" ], [ "athymia", "athymia" ], [ "lack of thymic shadow", "lack of thymic shadow" ] ], "xref": [ "MSH:C536288", "SNOMEDCT_US:702623002", "SNOMEDCT_US:91918005", "UMLS:C0685894" ], "is_a": [ "HP:0010515" ], "is_obsolete": "", "replace_id": "" }, "HP:0005360": { "name": [ "susceptibility to chickenpox", "susceptibility to chickenpox" ], "alt_id": [], "def": "Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox.", "synonym": [], "xref": [ "UMLS:C1855205" ], "is_a": [ "HP:0004429" ], "is_obsolete": "", "replace_id": "" }, "HP:0005363": { "name": [ "humoral immunodeficiency", "humoral immunodeficiency" ], "alt_id": [], "def": "A general term referring to a defect in immunity resulting from impaired antibody production.", "synonym": [], "xref": [ "UMLS:C4025206" ], "is_a": [ "HP:0002721" ], "is_obsolete": "", "replace_id": "" }, "HP:0005364": { "name": [ "obsolete severe viral infections", "obsolete severe viral infection" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0004429" }, "HP:0005365": { "name": [ "severe b lymphocytopenia", "severe b lymphocytopenia" ], "alt_id": [ "HP:0002856" ], "def": "A severe form of B lymphocytopenia in which the count of B cells is very low or absent.", "synonym": [ [ "absence of b cells", "absence of b cell" ], [ "absent b cells", "absent b cell" ] ], "xref": [ "UMLS:C1863715", "UMLS:C4020824" ], "is_a": [ "HP:0010976" ], "is_obsolete": "", "replace_id": "" }, "HP:0005366": { "name": [ "recurrent streptococcus pneumoniae infections", "recurrent streptococcus pneumoniae infection" ], "alt_id": [], "def": "Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.", "synonym": [], "xref": [ "UMLS:C2169794" ], "is_a": [ "HP:0002205", "HP:0020096" ], "is_obsolete": "", "replace_id": "" }, "HP:0005368": { "name": [ "abnormality of humoral immunity", "abnormality of humoral immunity" ], "alt_id": [], "def": "An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.", "synonym": [ [ "defective humoral immunity", "defective humoral immunity" ] ], "xref": [ "UMLS:C3150510" ], "is_a": [ "HP:0010978" ], "is_obsolete": "", "replace_id": "" }, "HP:0005369": { "name": [ "decreased serum complement factor h", "decrease serum complement factor h" ], "alt_id": [], "def": "A reduced level of the complement component Factor H in circulation.", "synonym": [], "xref": [ "UMLS:C1969222" ], "is_a": [ "HP:0004431" ], "is_obsolete": "", "replace_id": "" }, "HP:0005372": { "name": [ "abnormality of b cell physiology", "abnormality of b cell physiology" ], "alt_id": [ "HP:0005398" ], "def": "An abnormality of the physiological functioning of B cells.", "synonym": [ [ "abnormality of b cell physiology", "abnormality of b cell physiology" ], [ "reduced b cell function", "reduce b cell function" ] ], "xref": [ "UMLS:C1849242" ], "is_a": [ "HP:0031409" ], "is_obsolete": "", "replace_id": "" }, "HP:0005374": { "name": [ "cellular immunodeficiency", "cellular immunodeficiency" ], "alt_id": [ "HP:0005375" ], "def": "An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.", "synonym": [], "xref": [ "UMLS:C1855204" ], "is_a": [ "HP:0002721" ], "is_obsolete": "", "replace_id": "" }, "HP:0005375": { "name": [ "obsolete partial cellular immunodeficiency", "obsolete partial cellular immunodeficiency" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0005374" }, "HP:0005376": { "name": [ "recurrent haemophilus influenzae infections", "recurrent haemophilus influenzae infection" ], "alt_id": [], "def": "Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.", "synonym": [ [ "recurrent h. influenzae infections", "recurrent h. influenzae infection" ] ], "xref": [ "UMLS:C4025204" ], "is_a": [ "HP:0005420" ], "is_obsolete": "", "replace_id": "" }, "HP:0005379": { "name": [ "obsolete severe t lymphocytopenia", "obsolete severe t lymphocytopenia" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0005381": { "name": [ "recurrent meningococcal disease", "recurrent meningococcal disease" ], "alt_id": [ "HP:0005414" ], "def": "Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.", "synonym": [ [ "increased susceptibility to neisseria meningitidis infections", "increase susceptibility to neisseria meningitidis infection" ] ], "xref": [ "UMLS:C1970263" ], "is_a": [ "HP:0005430" ], "is_obsolete": "", "replace_id": "" }, "HP:0005384": { "name": [ "defective b cell activation", "defective b cell activation" ], "alt_id": [], "def": "A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of", "synonym": [], "xref": [ "UMLS:C1846551" ], "is_a": [ "HP:0005372" ], "is_obsolete": "", "replace_id": "" }, "HP:0005386": { "name": [ "recurrent protozoan infections", "recurrent protozoan infection" ], "alt_id": [], "def": "Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection.", "synonym": [], "xref": [ "UMLS:C4025202" ], "is_a": [ "HP:0002719" ], "is_obsolete": "", "replace_id": "" }, "HP:0005387": { "name": [ "combined immunodeficiency", "combine immunodeficiency" ], "alt_id": [], "def": "A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.", "synonym": [], "xref": [ "UMLS:C0494261" ], "is_a": [ "HP:0002721" ], "is_obsolete": "", "replace_id": "" }, "HP:0005389": { "name": [ "depletion of components of the alternative complement pathway", "depletion of component of the alternative complement pathway" ], "alt_id": [], "def": "An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products.", "synonym": [], "xref": [ "UMLS:C1969220" ], "is_a": [ "HP:0005482" ], "is_obsolete": "", "replace_id": "" }, "HP:0005390": { "name": [ "recurrent opportunistic infections", "recurrent opportunistic infection" ], "alt_id": [ "HP:0005426" ], "def": "Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.", "synonym": [ [ "frequent opportunistic infections", "frequent opportunistic infection" ] ], "xref": [ "UMLS:C1832324" ], "is_a": [ "HP:0002719", "HP:0031690" ], "is_obsolete": "", "replace_id": "" }, "HP:0005396": { "name": [ "susceptibility to coronavirus 229e", "susceptibility to coronavirus 229e" ], "alt_id": [], "def": "Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e.", "synonym": [], "xref": [ "UMLS:C1852539" ], "is_a": [ "HP:0004429" ], "is_obsolete": "", "replace_id": "" }, "HP:0005397": { "name": [ "obsolete exaggerated cellular immune processes", "obsolete exaggerated cellular immune process" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0005400": { "name": [ "reduction of neutrophil motility", "reduction of neutrophil motility" ], "alt_id": [], "def": "An abnormal reduction of the cell motility of neutrophils.", "synonym": [], "xref": [ "UMLS:C4025201" ], "is_a": [ "HP:0011990" ], "is_obsolete": "", "replace_id": "" }, "HP:0005401": { "name": [ "recurrent candida infections", "recurrent candida infection" ], "alt_id": [], "def": "An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.", "synonym": [ [ "frequent candida infections", "frequent candida infection" ] ], "xref": [ "UMLS:C1860128" ], "is_a": [ "HP:0002841" ], "is_obsolete": "", "replace_id": "" }, "HP:0005402": { "name": [ "obsolete primary t - lymphocyte immune abnormalities", "obsolete primary t - lymphocyte immune abnormality" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0011840" }, "HP:0005403": { "name": [ "t lymphocytopenia", "t lymphocytopenia" ], "alt_id": [ "HP:0005412", "HP:0045071" ], "def": "An abnormally low count of T cells.", "synonym": [ [ "decrease in t cell count", "decrease in t cell count" ], [ "decrease in t cell number", "decrease in t cell number" ], [ "decreased numbers of circulating t cells", "decreased number of circulate t cell" ], [ "low t cell count", "low t cell count" ], [ "reduced number of t cells", "reduced number of t cell" ] ], "xref": [ "MSH:C536783", "UMLS:C2931322" ], "is_a": [ "HP:0001888", "HP:0011839" ], "is_obsolete": "", "replace_id": "" }, "HP:0005404": { "name": [ "increased b cell count", "increase b cell count" ], "alt_id": [], "def": "An abnormal increase from the normal count of B cells.", "synonym": [ [ "increase in b cell count", "increase in b cell count" ], [ "increase in b cell number", "increase in b cell number" ], [ "increased number of b cells", "increased number of b cell" ] ], "xref": [ "UMLS:C1858972" ], "is_a": [ "HP:0010975", "HP:0100827" ], "is_obsolete": "", "replace_id": "" }, "HP:0005406": { "name": [ "recurrent bacterial skin infections", "recurrent bacterial skin infection" ], "alt_id": [ "HP:0000983" ], "def": "Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.", "synonym": [ [ "recurrent bacterial skin infections", "recurrent bacterial skin infection" ], [ "recurrent cutaneous pyogenic infections", "recurrent cutaneous pyogenic infection" ], [ "recurrent episodes of impetigo", "recurrent episode of impetigo" ], [ "recurrent episodes of infectious dermatitis", "recurrent episode of infectious dermatitis" ], [ "recurrent pyogenic skin infections", "recurrent pyogenic skin infection" ] ], "xref": [ "UMLS:C1835686" ], "is_a": [ "HP:0001581", "HP:0002718" ], "is_obsolete": "", "replace_id": "" }, "HP:0005407": { "name": [ "decreased proportion of cd4 - positive helper t cells", "decreased proportion of cd4 - positive helper t cell" ], "alt_id": [ "HP:0005480" ], "def": "A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.", "synonym": [ [ "abnormality of cd4+ t cells", "abnormality of cd4+ t cell" ], [ "cd4 t cell lymphopenia", "cd4 t cell lymphopenia" ], [ "cd4+ t - cell lymphopenia", "cd4+ t - cell lymphopenia" ] ], "xref": [ "UMLS:C1839304" ], "is_a": [ "HP:0005403", "HP:0032218", "HP:0500267" ], "is_obsolete": "", "replace_id": "" }, "HP:0005409": { "name": [ "obsolete markedly reduced t cell function", "obsolete markedly reduce t cell function" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0005435" }, "HP:0005411": { "name": [ "chronic intestinal candidiasis", "chronic intestinal candidiasis" ], "alt_id": [], "def": "Persistent overgrowth of Candida albicans in the gastrointestinal tract.", "synonym": [ [ "candida overgrowth syndrome", "candida overgrowth syndrome" ] ], "xref": [ "UMLS:C4020823", "UMLS:C4025199" ], "is_a": [ "HP:0002728" ], "is_obsolete": "", "replace_id": "" }, "HP:0005413": { "name": [ "increased alpha - globulin", "increase alpha - globulin" ], "alt_id": [], "def": "An abnormally increased level of circulationg alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant.", "synonym": [], "xref": [ "SNOMEDCT_US:124022007", "UMLS:C1167806" ], "is_a": [ "HP:0032311" ], "is_obsolete": "", "replace_id": "" }, "HP:0005415": { "name": [ "decreased proportion of cd8 - positive t cells", "decreased proportion of cd8 - positive t cell" ], "alt_id": [ "HP:0005481" ], "def": "A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.", "synonym": [ [ "cd8+ t - cell lymphopenia", "cd8+ t - cell lymphopenia" ], [ "decreased proportion of cd8+ t cells", "decreased proportion of cd8+ t cell" ], [ "decreased proportion of cd8 - positive , alpha - beta t cells", "decreased proportion of cd8 - positive , alpha - beta t cell" ] ], "xref": [ "UMLS:C1839305" ], "is_a": [ "HP:0005403", "HP:0031393" ], "is_obsolete": "", "replace_id": "" }, "HP:0005416": { "name": [ "decreased serum complement factor b", "decrease serum complement factor b" ], "alt_id": [], "def": "A reduced level of the complement component factor B in circulation.", "synonym": [ [ "decreased serum factor b", "decrease serum factor b" ] ], "xref": [ "UMLS:C4021636" ], "is_a": [ "HP:0004431" ], "is_obsolete": "", "replace_id": "" }, "HP:0005419": { "name": [ "decreased t cell activation", "decrease t cell activation" ], "alt_id": [ "HP:0005370", "HP:0005436" ], "def": "Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.", "synonym": [ [ "decreased t lymphocyte activation", "decrease t lymphocyte activation" ], [ "decreased t - cell activation", "decrease t - cell activation" ], [ "decreased t - lymphocyte activation", "decrease t - lymphocyte activation" ], [ "defective t cell activation", "defective t cell activation" ], [ "profound depletion of t4+ lymphocytes", "profound depletion of t4+ lymphocyte" ] ], "xref": [ "UMLS:C1846550" ], "is_a": [ "HP:0410035" ], "is_obsolete": "", "replace_id": "" }, "HP:0005420": { "name": [ "recurrent gram - negative bacterial infections", "recurrent gram - negative bacterial infection" ], "alt_id": [ "HP:0005395" ], "def": "Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.", "synonym": [], "xref": [ "UMLS:C4025198" ], "is_a": [ "HP:0002718" ], "is_obsolete": "", "replace_id": "" }, "HP:0005421": { "name": [ "decreased serum complement c3", "decrease serum complement c3" ], "alt_id": [ "HP:0005408" ], "def": "A reduced level of the complement component C3 in circulation.", "synonym": [ [ "decreased serum c3", "decrease serum c3" ], [ "decreased serum complement c3 level", "decrease serum complement c3 level" ] ], "xref": [ "UMLS:C1837512" ], "is_a": [ "HP:0004431" ], "is_obsolete": "", "replace_id": "" }, "HP:0005422": { "name": [ "absence of cd8 - positive t cells", "absence of cd8 - positive t cell" ], "alt_id": [], "def": "Lack of detectible CD8-positive T cells", "synonym": [ [ "absence of cd8+ t cells", "absence of cd8+ t cell" ] ], "xref": [ "UMLS:C4025197" ], "is_a": [ "HP:0005415" ], "is_obsolete": "", "replace_id": "" }, "HP:0005423": { "name": [ "dysfunctional alternative complement pathway", "dysfunctional alternative complement pathway" ], "alt_id": [], "def": "An abnormality of the functioning of any aspect of the alternative complement pathway.", "synonym": [], "xref": [ "UMLS:C1839458" ], "is_a": [ "HP:0005482" ], "is_obsolete": "", "replace_id": "" }, "HP:0005424": { "name": [ "absent specific antibody response", "absent specific antibody response" ], "alt_id": [], "def": "Absence of specific immunoglobulins directed against a specific antigen or microorganism.", "synonym": [], "xref": [ "UMLS:C1863246" ], "is_a": [ "HP:0012475" ], "is_obsolete": "", "replace_id": "" }, "HP:0005425": { "name": [ "recurrent sinopulmonary infections", "recurrent sinopulmonary infection" ], "alt_id": [], "def": "An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.", "synonym": [ [ "chronic sinopulmonary infection", "chronic sinopulmonary infection" ], [ "recurrent sinus and lung infections", "recurrent sinus and lung infection" ] ], "xref": [ "UMLS:C1846546" ], "is_a": [ "HP:0002205" ], "is_obsolete": "", "replace_id": "" }, "HP:0005428": { "name": [ "severe recurrent varicella", "severe recurrent varicella" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C563458", "UMLS:C1833487" ], "is_a": [ "HP:0004429" ], "is_obsolete": "", "replace_id": "" }, "HP:0005429": { "name": [ "recurrent systemic pyogenic infections", "recurrent systemic pyogenic infection" ], "alt_id": [], "def": "Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections.", "synonym": [], "xref": [ "UMLS:C4025196" ], "is_a": [ "HP:0002718" ], "is_obsolete": "", "replace_id": "" }, "HP:0005430": { "name": [ "recurrent neisserial infections", "recurrent neisserial infection" ], "alt_id": [ "HP:0005377", "HP:0005378" ], "def": "Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis).", "synonym": [ [ "episodes of neisserial infection", "episode of neisserial infection" ], [ "recurrent neisseria infections", "recurrent neisseria infection" ] ], "xref": [ "UMLS:C3151083" ], "is_a": [ "HP:0005420" ], "is_obsolete": "", "replace_id": "" }, "HP:0005432": { "name": [ "transient hypogammaglobulinemia of infancy", "transient hypogammaglobulinemia of infancy" ], "alt_id": [], "def": "At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia.", "synonym": [ [ "newborn gammaglobulin deficiency", "newborn gammaglobulin deficiency" ] ], "xref": [ "SNOMEDCT_US:88714009", "UMLS:C0272238", "UMLS:C4020822" ], "is_a": [ "HP:0004313" ], "is_obsolete": "", "replace_id": "" }, "HP:0005435": { "name": [ "impaired t cell function", "impaired t cell function" ], "alt_id": [ "HP:0002844", "HP:0005373", "HP:0005383", "HP:0005409" ], "def": "Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.", "synonym": [ [ "impaired t cell function", "impaired t cell function" ], [ "t - cell dysfunction", "t - cell dysfunction" ] ], "xref": [ "UMLS:C1860127" ], "is_a": [ "HP:0011840" ], "is_obsolete": "", "replace_id": "" }, "HP:0005437": { "name": [ "recurrent infections in infancy and early childhood", "recurrent infection in infancy and early childhood" ], "alt_id": [], "def": "Recurrent infections at an early age with improvement in later childhood.", "synonym": [], "xref": [ "UMLS:C1844909" ], "is_a": [ "HP:0002719" ], "is_obsolete": "", "replace_id": "" }, "HP:0005439": { "name": [ "maxillozygomatic hypoplasia", "maxillozygomatic hypoplasia" ], "alt_id": [], "def": "Hypoplasia of the maxillozygomatic complex.", "synonym": [ [ "decreased projection of zygomaticomaxillary bone complex", "decreased projection of zygomaticomaxillary bone complex" ], [ "decreased size of zygomaticomaxillary bone complex", "decreased size of zygomaticomaxillary bone complex" ], [ "deficiency of zygomaticomaxillary bone complex", "deficiency of zygomaticomaxillary bone complex" ], [ "hypoplasia of malar bone complex", "hypoplasia of malar bone complex" ], [ "hypoplasia of zygomaticomaxillary complex", "hypoplasia of zygomaticomaxillary complex" ], [ "underdevelopment of zygomaticomaxillary bone complex", "underdevelopment of zygomaticomaxillary bone complex" ] ], "xref": [ "UMLS:C1848908", "UMLS:C4280488" ], "is_a": [ "HP:0000327", "HP:0010669" ], "is_obsolete": "", "replace_id": "" }, "HP:0005441": { "name": [ "sclerotic cranial sutures", "sclerotic cranial suture" ], "alt_id": [], "def": "An increased density in the cranial sutures following obliteration.", "synonym": [], "xref": [ "UMLS:C4025195" ], "is_a": [ "HP:0011329" ], "is_obsolete": "", "replace_id": "" }, "HP:0005442": { "name": [ "widely patent coronal suture", "widely patent coronal suture" ], "alt_id": [], "def": "The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed.", "synonym": [], "xref": [ "UMLS:C1856778" ], "is_a": [ "HP:0011329" ], "is_obsolete": "", "replace_id": "" }, "HP:0005445": { "name": [ "enlarged posterior fossa", "enlarge posterior fossa" ], "alt_id": [], "def": "Abnormal increased size of the posterior cranial fossa.", "synonym": [ [ "widened posterior fossa", "widen posterior fossa" ] ], "xref": [ "UMLS:C1855889" ], "is_a": [ "HP:0000932" ], "is_obsolete": "", "replace_id": "" }, "HP:0005446": { "name": [ "obtuse angle of mandible", "obtuse angle of mandible" ], "alt_id": [], "def": "Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.", "synonym": [ [ "high mandibular plane angle", "high mandibular plane angle" ], [ "steep mandibular plane angle", "steep mandibular plane angle" ] ], "xref": [ "SNOMEDCT_US:709997007", "UMLS:C4038738" ], "is_a": [ "HP:0000277" ], "is_obsolete": "", "replace_id": "" }, "HP:0005449": { "name": [ "bridged sella turcica", "bridge sella turcica" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C566689", "UMLS:C1866959" ], "is_a": [ "HP:0002681" ], "is_obsolete": "", "replace_id": "" }, "HP:0005450": { "name": [ "calvarial osteosclerosis", "calvarial osteosclerosis" ], "alt_id": [], "def": "An increase in bone density affecting the calvaria (roof of the skull).", "synonym": [], "xref": [ "UMLS:C1855657" ], "is_a": [ "HP:0005464" ], "is_obsolete": "", "replace_id": "" }, "HP:0005451": { "name": [ "decreased cranial base ossification", "decrease cranial base ossification" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1835442" ], "is_a": [ "HP:0004331" ], "is_obsolete": "", "replace_id": "" }, "HP:0005453": { "name": [ "absent / hypoplastic paranasal sinuses", "absent / hypoplastic paranasal sinus" ], "alt_id": [], "def": "Aplasia or hypoplasia of the paranasal sinuses.", "synonym": [], "xref": [ "UMLS:C1856639" ], "is_a": [ "HP:0009120" ], "is_obsolete": "", "replace_id": "" }, "HP:0005456": { "name": [ "absent ethmoidal sinuses", "absent ethmoidal sinus" ], "alt_id": [], "def": "Lack (aplasia) of the ethmoidal sinus.", "synonym": [ [ "agenesis of ethmoid sinuses", "agenesis of ethmoid sinus" ], [ "failure of development of ethmoid sinuses", "failure of development of ethmoid sinus" ], [ "missing ethmoid sinuses", "miss ethmoid sinus" ] ], "xref": [ "UMLS:C4025194" ], "is_a": [ "HP:0002689", "HP:3000040" ], "is_obsolete": "", "replace_id": "" }, "HP:0005458": { "name": [ "premature closure of fontanelles", "premature closure of fontanelle" ], "alt_id": [], "def": "Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.", "synonym": [ [ "early closure of the bregma sutures", "early closure of the bregma suture" ], [ "early closure of the cranial sutures", "early closure of the cranial suture" ], [ "early closure of the fontanelles", "early closure of the fontanelle" ], [ "obliterated fontanelles", "obliterate fontanelle" ], [ "premature closure of the bregma sutures", "premature closure of the bregma suture" ], [ "premature closure of the cranial sutures", "premature closure of the cranial suture" ] ], "xref": [ "MSH:D003398", "SNOMEDCT_US:1667003", "SNOMEDCT_US:57219006", "UMLS:C0010278", "UMLS:C0277827", "UMLS:C4072853" ], "is_a": [ "HP:0011328" ], "is_obsolete": "", "replace_id": "" }, "HP:0005461": { "name": [ "craniofacial disproportion", "craniofacial disproportion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1867114" ], "is_a": [ "HP:0001999" ], "is_obsolete": "", "replace_id": "" }, "HP:0005462": { "name": [ "calcification of falx cerebri", "calcification of falx cerebri" ], "alt_id": [], "def": "The presence of calcium deposition in the falx cerebri.", "synonym": [], "xref": [ "UMLS:C1397139" ], "is_a": [ "HP:0002514", "HP:0010653" ], "is_obsolete": "", "replace_id": "" }, "HP:0005463": { "name": [ "elongated sella turcica", "elongate sella turcica" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1863311" ], "is_a": [ "HP:0002681" ], "is_obsolete": "", "replace_id": "" }, "HP:0005464": { "name": [ "craniofacial osteosclerosis", "craniofacial osteosclerosis" ], "alt_id": [], "def": "Abnormally increased density of craniofacial bone tissue.", "synonym": [ [ "cranial sclerosis", "cranial sclerosis" ] ], "xref": [ "UMLS:C1845805", "UMLS:C4025193" ], "is_a": [ "HP:0011001", "HP:0011821" ], "is_obsolete": "", "replace_id": "" }, "HP:0005465": { "name": [ "facial hyperostosis", "facial hyperostosis" ], "alt_id": [ "HP:0008508" ], "def": "Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.", "synonym": [ [ "enlargement of facial bones", "enlargement of facial bone" ], [ "enlargement of facial skeleton", "enlargement of facial skeleton" ], [ "enlargment of the facial bones", "enlargment of the facial bone" ], [ "excessive growth of facial bones", "excessive growth of facial bone" ], [ "excessive growth of facial skeleton", "excessive growth of facial skeleton" ], [ "hyperostosis of facial bones", "hyperostosis of facial bone" ], [ "hyperostosis of facial skeleton", "hyperostosis of facial skeleton" ], [ "hypertrophy of facial bones", "hypertrophy of facial bone" ], [ "hypertrophy of facial skeleton", "hypertrophy of facial skeleton" ], [ "hypertrophy of the facial bones", "hypertrophy of the facial bone" ], [ "increase in size of the facial bones", "increase in size of the facial bone" ], [ "increased ossification of facial bones", "increase ossification of facial bone" ], [ "increased ossification of facial skeleton", "increase ossification of facial skeleton" ], [ "overgrowth of facial bones", "overgrowth of facial bone" ], [ "overgrowth of facial skeleton", "overgrowth of facial skeleton" ], [ "overgrowth of the facial bones", "overgrowth of the facial bone" ] ], "xref": [ "UMLS:C1857501", "UMLS:C4280485", "UMLS:C4280486", "UMLS:C4280487" ], "is_a": [ "HP:0004493" ], "is_obsolete": "", "replace_id": "" }, "HP:0005466": { "name": [ "hypoplasia of the frontal bone", "hypoplasia of the frontal bone" ], "alt_id": [ "HP:0005493" ], "def": "Underdevelopment of the frontal bone.", "synonym": [ [ "decreased size of bone of forehead", "decreased size of bone of forehead" ], [ "hypoplastic frontal bones", "hypoplastic frontal bone" ], [ "hypotrophic frontal bone", "hypotrophic frontal bone" ], [ "hypotrophic frontal bones", "hypotrophic frontal bone" ], [ "small bone of forehead", "small bone of forehead" ], [ "thin bone of forehead", "thin bone of forehead" ], [ "underdevelopment of bone of forehead", "underdevelopment of bone of forehead" ] ], "xref": [ "UMLS:C1845147", "UMLS:C4280483", "UMLS:C4280484" ], "is_a": [ "HP:0002692", "HP:0011218" ], "is_obsolete": "", "replace_id": "" }, "HP:0005469": { "name": [ "flat occiput", "flat occiput" ], "alt_id": [ "HP:0000247", "HP:0000249" ], "def": "Reduced convexity of the occiput (posterior part of skull).", "synonym": [ [ "flat back of skull", "flat back of skull" ], [ "flat back of the head", "flat back of the head" ], [ "flat back of the skull", "flat back of the skull" ], [ "flat posterior cranium", "flat posterior cranium" ], [ "flat posterior head", "flat posterior head" ], [ "posterior flattening of the skull", "posterior flattening of the skull" ] ], "xref": [ "UMLS:C1837402", "UMLS:C4280482" ], "is_a": [ "HP:0011217" ], "is_obsolete": "", "replace_id": "" }, "HP:0005472": { "name": [ "orbital craniosynostosis", "orbital craniosynostosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025192" ], "is_a": [ "HP:0001363", "HP:3000030" ], "is_obsolete": "", "replace_id": "" }, "HP:0005473": { "name": [ "fusion of middle ear ossicles", "fusion of middle ear ossicle" ], "alt_id": [], "def": "Bony fusion of malleus, incus, and stapes.", "synonym": [], "xref": [ "UMLS:C1862068" ], "is_a": [ "HP:0004452", "HP:0100240" ], "is_obsolete": "", "replace_id": "" }, "HP:0005474": { "name": [ "decreased calvarial ossification", "decrease calvarial ossification" ], "alt_id": [ "HP:0002701", "HP:0002702", "HP:0005454", "HP:0005471" ], "def": "Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).", "synonym": [ [ "poorly ossified calvaria", "poorly ossify calvaria" ], [ "poorly ossified calvarium", "poorly ossify calvarium" ], [ "skull soft on palpation", "skull soft on palpation" ], [ "soft calvaria", "soft calvaria" ], [ "soft skullcap", "soft skullcap" ], [ "undermineralized calvarium", "undermineralized calvarium" ] ], "xref": [ "UMLS:C1833762" ], "is_a": [ "HP:0002683", "HP:0004331" ], "is_obsolete": "", "replace_id": "" }, "HP:0005476": { "name": [ "widely patent sagittal suture", "widely patent sagittal suture" ], "alt_id": [], "def": "The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed.", "synonym": [], "xref": [ "UMLS:C1856779" ], "is_a": [ "HP:0011329" ], "is_obsolete": "", "replace_id": "" }, "HP:0005477": { "name": [ "progressive sclerosis of skull base", "progressive sclerosis of skull base" ], "alt_id": [], "def": "Progressively increasing bone density of the skull base without significant changes in bony contour.", "synonym": [], "xref": [ "UMLS:C1835470" ], "is_a": [ "HP:0002694" ], "is_obsolete": "", "replace_id": "" }, "HP:0005478": { "name": [ "prominent frontal sinuses", "prominent frontal sinus" ], "alt_id": [], "def": "", "synonym": [ [ "hyperplasia of frontal sinus", "hyperplasia of frontal sinus" ], [ "hypertrophy of frontal sinus", "hypertrophy of frontal sinus" ], [ "increased size of frontal sinus", "increase size of frontal sinus" ], [ "increased volume of frontal sinus", "increased volume of frontal sinus" ], [ "large frontal sinus", "large frontal sinus" ] ], "xref": [ "UMLS:C1969404", "UMLS:C4280265", "UMLS:C4280479", "UMLS:C4280480", "UMLS:C4280481" ], "is_a": [ "HP:0002687" ], "is_obsolete": "", "replace_id": "" }, "HP:0005479": { "name": [ "decreased circulating ige", "decrease circulating ige" ], "alt_id": [ "HP:0002854" ], "def": "An abnormally decreased level of immunoglobulin E (IgE) in blood.", "synonym": [ [ "decreased ige", "decrease ige" ], [ "ige deficiency", "ige deficiency" ] ], "xref": [ "UMLS:C0860904" ], "is_a": [ "HP:0004313", "HP:0410241" ], "is_obsolete": "", "replace_id": "" }, "HP:0005482": { "name": [ "abnormality of the alternative complement pathway", "abnormality of the alternative complement pathway" ], "alt_id": [], "def": "A deviation in any aspect of the alternative complement pathway.", "synonym": [], "xref": [ "UMLS:C4025191" ], "is_a": [ "HP:0005339" ], "is_obsolete": "", "replace_id": "" }, "HP:0005483": { "name": [ "abnormal epiglottis morphology", "abnormal epiglottis morphology" ], "alt_id": [], "def": "An abnormality of the epiglottis.", "synonym": [ [ "abnormality of the epiglottis", "abnormality of the epiglottis" ] ], "xref": [ "UMLS:C4025190" ], "is_a": [ "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0005484": { "name": [ "secondary microcephaly", "secondary microcephaly" ], "alt_id": [ "HP:0000241", "HP:0000259", "HP:0005499" ], "def": "Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.", "synonym": [ [ "acquired microcephaly", "acquire microcephaly" ], [ "deceleration of head growth", "deceleration of head growth" ], [ "development of small head that was not present at birth", "development of small head that be not present at birth" ], [ "microcephaly , acquired", "microcephaly , acquire" ], [ "microcephaly , postnatal", "microcephaly , postnatal" ], [ "postnatal deceleration of head circumference", "postnatal deceleration of head circumference" ], [ "postnatal microcephaly", "postnatal microcephaly" ] ], "xref": [ "UMLS:C1847514" ], "is_a": [ "HP:0000252" ], "is_obsolete": "", "replace_id": "" }, "HP:0005486": { "name": [ "small fontanelle", "small fontanelle" ], "alt_id": [], "def": "A fontanelle that is small for age.", "synonym": [ [ "little cranial sutures", "little cranial suture" ], [ "little fontanelle", "little fontanelle" ], [ "microfontanelle", "microfontanelle" ], [ "small bregma sutures", "small bregma suture" ], [ "small cranial sutures", "small cranial suture" ], [ "small soft spot", "small soft spot" ] ], "xref": [ "SNOMEDCT_US:276710001", "UMLS:C0456133", "UMLS:C4072854", "UMLS:C4072855" ], "is_a": [ "HP:0011328" ], "is_obsolete": "", "replace_id": "" }, "HP:0005487": { "name": [ "prominent metopic ridge", "prominent metopic ridge" ], "alt_id": [ "HP:0005488", "HP:0005751" ], "def": "Vertical bony ridge positioned in the midline of the forehead.", "synonym": [ [ "prominent frontal ridge", "prominent frontal ridge" ], [ "prominent frontal suture", "prominent frontal suture" ], [ "prominent metopic suture", "prominent metopic suture" ], [ "ridging of frontal suture", "ridging of frontal suture" ], [ "ridging of metopic suture", "ridging of metopic suture" ] ], "xref": [ "UMLS:C1857949" ], "is_a": [ "HP:0005556" ], "is_obsolete": "", "replace_id": "" }, "HP:0005490": { "name": [ "postnatal macrocephaly", "postnatal macrocephaly" ], "alt_id": [], "def": "The postnatal development of an abnormally large skull (macrocephaly).", "synonym": [ [ "macrocephaly , postnatal", "macrocephaly , postnatal" ] ], "xref": [ "UMLS:C1854417" ], "is_a": [ "HP:0000256" ], "is_obsolete": "", "replace_id": "" }, "HP:0005494": { "name": [ "premature posterior fontanelle closure", "premature posterior fontanelle closure" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1839126" ], "is_a": [ "HP:0005458" ], "is_obsolete": "", "replace_id": "" }, "HP:0005495": { "name": [ "metopic suture patent to nasal root", "metopic suture patent to nasal root" ], "alt_id": [], "def": "The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root.", "synonym": [], "xref": [ "UMLS:C4025189" ], "is_a": [ "HP:0005556" ], "is_obsolete": "", "replace_id": "" }, "HP:0005498": { "name": [ "midline skin dimples over anterior / posterior fontanelles", "midline skin dimple over anterior / posterior fontanelle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1855690" ], "is_a": [ "HP:0000236" ], "is_obsolete": "", "replace_id": "" }, "HP:0005502": { "name": [ "increased red cell osmotic fragility", "increase red cell osmotic fragility" ], "alt_id": [], "def": "", "synonym": [ [ "increased erythrocyte osmotic fragility", "increase erythrocyte osmotic fragility" ], [ "increased red cell fragility", "increase red cell fragility" ] ], "xref": [ "UMLS:C1849478" ], "is_a": [ "HP:0020054" ], "is_obsolete": "", "replace_id": "" }, "HP:0005505": { "name": [ "refractory anemia", "refractory anemia" ], "alt_id": [], "def": "", "synonym": [ [ "refractory anaemia", "refractory anaemia" ] ], "xref": [ "MSH:D000753", "SNOMEDCT_US:128845005", "UMLS:C0002893" ], "is_a": [ "HP:0001903" ], "is_obsolete": "", "replace_id": "" }, "HP:0005506": { "name": [ "chronic myelogenous leukemia", "chronic myelogenous leukemia" ], "alt_id": [ "HP:0005544" ], "def": "A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.", "synonym": [ [ "chronic myelocytic leukaemia", "chronic myelocytic leukaemia" ], [ "chronic myelocytic leukemia", "chronic myelocytic leukemia" ], [ "chronic myelogenous leukaemia", "chronic myelogenous leukaemia" ], [ "chronic myeloid leukaemia", "chronic myeloid leukaemia" ], [ "chronic myeloid leukemia", "chronic myeloid leukemia" ] ], "xref": [ "DOID:8552 \"chronic myeloid leukemia\"", "MSH:D015464", "SNOMEDCT_US:63364005", "SNOMEDCT_US:92818009", "UMLS:C0023473" ], "is_a": [ "HP:0005558" ], "is_obsolete": "", "replace_id": "" }, "HP:0005507": { "name": [ "hemoglobin barts", "hemoglobin bart" ], "alt_id": [], "def": "Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.", "synonym": [ [ "haemoglobin barts", "haemoglobin bart" ], [ "hb barts", "hb bart" ] ], "xref": [ "UMLS:C3539063" ], "is_a": [ "HP:0011902" ], "is_obsolete": "", "replace_id": "" }, "HP:0005508": { "name": [ "monoclonal immunoglobulin m proteinemia", "monoclonal immunoglobulin m proteinemia" ], "alt_id": [], "def": "Presence of a monoclonal immunoglobulin M protein in the serum.", "synonym": [ [ "waldenstrom macroglobulinemia", "waldenstrom macroglobulinemia" ] ], "xref": [ "MSH:D008258", "SNOMEDCT_US:190817009", "SNOMEDCT_US:190818004", "SNOMEDCT_US:35562000", "UMLS:C0024419" ], "is_a": [ "HP:0003496", "HP:0005523", "HP:0031047" ], "is_obsolete": "", "replace_id": "" }, "HP:0005510": { "name": [ "transient erythroblastopenia", "transient erythroblastopenia" ], "alt_id": [], "def": "A transient reduction in the number of erythroblasts in the circulation.", "synonym": [ [ "transient decrease in blood erythrocyte number", "transient decrease in blood erythrocyte number" ] ], "xref": [ "UMLS:C4082199" ], "is_a": [ "HP:0001903" ], "is_obsolete": "", "replace_id": "" }, "HP:0005511": { "name": [ "heinz body anemia", "heinz body anemia" ], "alt_id": [], "def": "Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.", "synonym": [ [ "heinz body anaemia", "heinz body anaemia" ] ], "xref": [ "MSH:C563030", "UMLS:C0700299" ], "is_a": [ "HP:0001878" ], "is_obsolete": "", "replace_id": "" }, "HP:0005512": { "name": [ "impaired neutrophil killing of staphylococci", "impaired neutrophil killing of staphylococci" ], "alt_id": [], "def": "A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph.", "synonym": [], "xref": [ "UMLS:C4025188" ], "is_a": [ "HP:0011993" ], "is_obsolete": "", "replace_id": "" }, "HP:0005513": { "name": [ "increased megakaryocyte count", "increase megakaryocyte count" ], "alt_id": [], "def": "Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.", "synonym": [], "xref": [ "UMLS:C4025187" ], "is_a": [ "HP:0012143" ], "is_obsolete": "", "replace_id": "" }, "HP:0005517": { "name": [ "t - cell lymphoma / leukemia", "t - cell lymphoma / leukemia" ], "alt_id": [], "def": "A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas.", "synonym": [], "xref": [ "UMLS:C4025186" ], "is_a": [ "HP:0012190" ], "is_obsolete": "", "replace_id": "" }, "HP:0005518": { "name": [ "increased mean corpuscular volume", "increase mean corpuscular volume" ], "alt_id": [ "HP:0005536" ], "def": "Larger than normal size of erythrocytes.", "synonym": [ [ "erythrocyte macrocytosis", "erythrocyte macrocytosis" ], [ "increased mcv", "increase mcv" ] ], "xref": [ "UMLS:C0855791" ], "is_a": [ "HP:0025065" ], "is_obsolete": "", "replace_id": "" }, "HP:0005520": { "name": [ "chronic disseminated intravascular coagulation", "chronic disseminate intravascular coagulation" ], "alt_id": [], "def": "A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.", "synonym": [ [ "chronic consumption coagulopathy", "chronic consumption coagulopathy" ], [ "compensated disseminated intravascular coagulation", "compensate disseminate intravascular coagulation" ] ], "xref": [ "UMLS:C1862184" ], "is_a": [ "HP:0005521" ], "is_obsolete": "", "replace_id": "" }, "HP:0005521": { "name": [ "disseminated intravascular coagulation", "disseminate intravascular coagulation" ], "alt_id": [], "def": "Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.", "synonym": [], "xref": [ "MSH:D004211", "SNOMEDCT_US:67406007", "UMLS:C0012739" ], "is_a": [ "HP:0001977" ], "is_obsolete": "", "replace_id": "" }, "HP:0005522": { "name": [ "pyridoxine - responsive sideroblastic anemia", "pyridoxine - responsive sideroblastic anemia" ], "alt_id": [], "def": "A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.", "synonym": [ [ "pyridoxine - responsive sideroblastic anaemia", "pyridoxine - responsive sideroblastic anaemia" ] ], "xref": [ "SNOMEDCT_US:191260004", "SNOMEDCT_US:25443007", "UMLS:C0272027" ], "is_a": [ "HP:0001924" ], "is_obsolete": "", "replace_id": "" }, "HP:0005523": { "name": [ "lymphoproliferative disorder", "lymphoproliferative disorder" ], "alt_id": [], "def": "", "synonym": [ [ "lymphoproliferative disorders", "lymphoproliferative disorder" ] ], "xref": [ "MSH:D008232", "SNOMEDCT_US:277466009", "SNOMEDCT_US:414629003", "SNOMEDCT_US:77121009", "SNOMEDCT_US:84631004", "UMLS:C0024314" ], "is_a": [ "HP:0004377" ], "is_obsolete": "", "replace_id": "" }, "HP:0005524": { "name": [ "macrocytic hemolytic disease", "macrocytic hemolytic disease" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025185" ], "is_a": [ "HP:0001878" ], "is_obsolete": "", "replace_id": "" }, "HP:0005525": { "name": [ "spontaneous hemolytic crises", "spontaneous hemolytic crisis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025184" ], "is_a": [ "HP:0001878" ], "is_obsolete": "", "replace_id": "" }, "HP:0005526": { "name": [ "lymphoid leukemia", "lymphoid leukemia" ], "alt_id": [], "def": "A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.", "synonym": [ [ "lymphoid leukaemia", "lymphoid leukaemia" ] ], "xref": [ "MSH:D007945", "SNOMEDCT_US:188725004", "SNOMEDCT_US:32280000", "UMLS:C0023448" ], "is_a": [ "HP:0001909" ], "is_obsolete": "", "replace_id": "" }, "HP:0005527": { "name": [ "reduced kininogen activity", "reduce kininogen activity" ], "alt_id": [ "HP:0004867", "HP:0005500", "HP:0005530", "HP:0005538" ], "def": "Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade.", "synonym": [ [ "fitzgerald factor deficiency", "fitzgerald factor deficiency" ], [ "kininogen deficiency", "kininogen deficiency" ], [ "williams factor deficiency", "williams factor deficiency" ], [ "williams - fitzgerald - flaujeac factor deficiency", "williams - fitzgerald - flaujeac factor deficiency" ] ], "xref": [ "MSH:C537060", "SNOMEDCT_US:27312002", "UMLS:C0272340" ], "is_a": [ "HP:0005559", "HP:0010989" ], "is_obsolete": "", "replace_id": "" }, "HP:0005528": { "name": [ "bone marrow hypocellularity", "bone marrow hypocellularity" ], "alt_id": [ "HP:0005529", "HP:0100549" ], "def": "A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.", "synonym": [ [ "bone marrow failure", "bone marrow failure" ], [ "bone marrow hypoplasia", "bone marrow hypoplasia" ], [ "hypoplastic bone marrow", "hypoplastic bone marrow" ] ], "xref": [ "UMLS:C1855710" ], "is_a": [ "HP:0012145" ], "is_obsolete": "", "replace_id": "" }, "HP:0005531": { "name": [ "biphenotypic acute leukemia", "biphenotypic acute leukemia" ], "alt_id": [], "def": "A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias.", "synonym": [ [ "acute biphenotypic leukaemia", "acute biphenotypic leukaemia" ], [ "biphenotypic acute leukaemia", "biphenotypic acute leukaemia" ], [ "myeloid / lymphoid leukaemia", "myeloid / lymphoid leukaemia" ], [ "myeloid / lymphoid leukemia", "myeloid / lymphoid leukemia" ] ], "xref": [ "MSH:D015456", "SNOMEDCT_US:128818009", "SNOMEDCT_US:278453007", "UMLS:C0023464" ], "is_a": [ "HP:0002488" ], "is_obsolete": "", "replace_id": "" }, "HP:0005532": { "name": [ "macrocytic dyserythropoietic anemia", "macrocytic dyserythropoietic anemia" ], "alt_id": [], "def": "", "synonym": [ [ "macrocytic dyserythropoietic anaemia", "macrocytic dyserythropoietic anaemia" ] ], "xref": [ "UMLS:C4025183" ], "is_a": [ "HP:0001972" ], "is_obsolete": "", "replace_id": "" }, "HP:0005534": { "name": [ "transient myeloproliferative syndrome", "transient myeloproliferative syndrome" ], "alt_id": [], "def": "A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts.", "synonym": [ [ "transient leukaemia of down syndrome", "transient leukaemia of down syndrome" ], [ "transient leukemia of down syndrome", "transient leukemia of down syndrome" ], [ "transient myeloproliferative disorder", "transient myeloproliferative disorder" ] ], "xref": [ "MSH:C563551", "SNOMEDCT_US:450934005", "UMLS:C1834582" ], "is_a": [ "HP:0005547" ], "is_obsolete": "", "replace_id": "" }, "HP:0005535": { "name": [ "exercise - induced hemolysis", "exercise - induced hemolysis" ], "alt_id": [], "def": "A form of hemolytic anemia that can be triggered by exertion.", "synonym": [], "xref": [ "UMLS:C4025182" ], "is_a": [ "HP:0001878" ], "is_obsolete": "", "replace_id": "" }, "HP:0005537": { "name": [ "decreased mean platelet volume", "decrease mean platelet volume" ], "alt_id": [ "HP:0001938" ], "def": "Average platelet volume below the lower limit of the normal reference interval.", "synonym": [ [ "small platelet size", "small platelet size" ], [ "small platelets", "small platelet" ], [ "small platelets size", "small platelet size" ] ], "xref": [ "UMLS:C1096368", "UMLS:C1833182" ], "is_a": [ "HP:0011876" ], "is_obsolete": "", "replace_id": "" }, "HP:0005539": { "name": [ "t cell chronic lymphocytic lymphoma / leukemia", "t cell chronic lymphocytic lymphoma / leukemia" ], "alt_id": [], "def": "A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.", "synonym": [], "xref": [ "UMLS:C4025181" ], "is_a": [ "HP:0005526" ], "is_obsolete": "", "replace_id": "" }, "HP:0005540": { "name": [ "red blood cell keratocytosis", "red blood cell keratocytosis" ], "alt_id": [], "def": "A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns.", "synonym": [ [ "distorted red blood cells resembling keratocytes", "distort red blood cell resemble keratocytes" ], [ "rbc keratocytosis", "rbc keratocytosis" ] ], "xref": [ "UMLS:C4021635" ], "is_a": [ "HP:0004447" ], "is_obsolete": "", "replace_id": "" }, "HP:0005541": { "name": [ "congenital agranulocytosis", "congenital agranulocytosis" ], "alt_id": [], "def": "Congenital onset of a marked decrease in the number of granulocytes.", "synonym": [], "xref": [ "MSH:C537592", "SNOMEDCT_US:89655007", "UMLS:C1853118" ], "is_a": [ "HP:0012234" ], "is_obsolete": "", "replace_id": "" }, "HP:0005542": { "name": [ "prolonged whole - blood clotting time", "prolonged whole - blood clotting time" ], "alt_id": [ "HP:0003229" ], "def": "An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.", "synonym": [ [ "prolonged clotting time", "prolong clotting time" ] ], "xref": [ "UMLS:C0151563" ], "is_a": [ "HP:0001928" ], "is_obsolete": "", "replace_id": "" }, "HP:0005543": { "name": [ "reduced protein c activity", "reduce protein c activity" ], "alt_id": [], "def": "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.", "synonym": [ [ "protein c deficiency", "protein c deficiency" ] ], "xref": [ "MSH:D020151", "SNOMEDCT_US:76407009", "UMLS:C0398625" ], "is_a": [ "HP:0030780" ], "is_obsolete": "", "replace_id": "" }, "HP:0005546": { "name": [ "increased red cell osmotic resistance", "increase red cell osmotic resistance" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1858628" ], "is_a": [ "HP:0020054" ], "is_obsolete": "", "replace_id": "" }, "HP:0005547": { "name": [ "myeloproliferative disorder", "myeloproliferative disorder" ], "alt_id": [], "def": "Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.", "synonym": [], "xref": [ "MSH:D009196", "SNOMEDCT_US:414794006", "SNOMEDCT_US:425333006", "UMLS:C0027022" ], "is_a": [ "HP:0001909" ], "is_obsolete": "", "replace_id": "" }, "HP:0005548": { "name": [ "megakaryocytopenia", "megakaryocytopenia" ], "alt_id": [], "def": "A reduced count of megakaryocytes.", "synonym": [], "xref": [ "UMLS:C1858312" ], "is_a": [ "HP:0012143" ], "is_obsolete": "", "replace_id": "" }, "HP:0005549": { "name": [ "obsolete congenital neutropenia", "obsolete congenital neutropenia" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0005550": { "name": [ "chronic lymphatic leukemia", "chronic lymphatic leukemia" ], "alt_id": [ "HP:0006734", "HP:0006760" ], "def": "A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias.", "synonym": [ [ "chronic lymphatic leukaemia", "chronic lymphatic leukaemia" ], [ "chronic lymphocytic leukaemia", "chronic lymphocytic leukaemia" ], [ "chronic lymphocytic leukemia", "chronic lymphocytic leukemia" ] ], "xref": [ "MSH:D015451", "SNOMEDCT_US:277473004", "SNOMEDCT_US:51092000", "SNOMEDCT_US:92814006", "UMLS:C0023434" ], "is_a": [ "HP:0005558" ], "is_obsolete": "", "replace_id": "" }, "HP:0005556": { "name": [ "abnormality of the metopic suture", "abnormality of the metopic suture" ], "alt_id": [], "def": "The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \\\"metopic suture\\\".", "synonym": [], "xref": [ "UMLS:C4025180" ], "is_a": [ "HP:0000290", "HP:0011329" ], "is_obsolete": "", "replace_id": "" }, "HP:0005557": { "name": [ "abnormality of the zygomatic arch", "abnormality of the zygomatic arch" ], "alt_id": [], "def": "An abnormality of the zygomatic arch, also known as the cheek bone.", "synonym": [ [ "abnormality of the malar arch", "abnormality of the malar arch" ], [ "anomaly of the malar arch", "anomaly of the malar arch" ], [ "anomaly of the zygomatic arch", "anomaly of the zygomatic arch" ], [ "deformity of the malar arch", "deformity of the malar arch" ], [ "deformity of the zygomatic arch", "deformity of the zygomatic arch" ], [ "malformation of the malar arch", "malformation of the malar arch" ], [ "malformation of the zygomatic arch", "malformation of the zygomatic arch" ] ], "xref": [ "UMLS:C4025179" ], "is_a": [ "HP:0010668" ], "is_obsolete": "", "replace_id": "" }, "HP:0005558": { "name": [ "chronic leukemia", "chronic leukemia" ], "alt_id": [], "def": "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.", "synonym": [ [ "chronic blood cancer", "chronic blood cancer" ], [ "chronic leukaemia", "chronic leukaemia" ] ], "xref": [ "SNOMEDCT_US:128933000", "SNOMEDCT_US:92812005", "UMLS:C1279296", "UMLS:C4280478" ], "is_a": [ "HP:0001909" ], "is_obsolete": "", "replace_id": "" }, "HP:0005559": { "name": [ "abnormality of the kinin - kallikrein system", "abnormality of the kinin - kallikrein system" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025178" ], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0005560": { "name": [ "imbalanced hemoglobin synthesis", "imbalanced hemoglobin synthesis" ], "alt_id": [], "def": "Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.", "synonym": [ [ "imbalanced haemoglobin synthesis", "imbalanced haemoglobin synthesis" ], [ "imbalanced hb synthesis", "imbalanced hb synthesis" ] ], "xref": [ "UMLS:C4025177" ], "is_a": [ "HP:0011902" ], "is_obsolete": "", "replace_id": "" }, "HP:0005561": { "name": [ "abnormality of bone marrow cell morphology", "abnormality of bone marrow cell morphology" ], "alt_id": [], "def": "An anomaly of the form or number of cells in the bone marrow.", "synonym": [ [ "anomaly of the bone marrow cells", "anomaly of the bone marrow cell" ], [ "bone marrow disease", "bone marrow disease" ] ], "xref": [ "MSH:D001855", "SNOMEDCT_US:127035006", "UMLS:C0005956", "UMLS:C4021634" ], "is_a": [ "HP:0001871" ], "is_obsolete": "", "replace_id": "" }, "HP:0005562": { "name": [ "multiple renal cysts", "multiple renal cyst" ], "alt_id": [], "def": "The presence of many cysts in the kidney.", "synonym": [ [ "multiple kidney cysts", "multiple kidney cyst" ] ], "xref": [ "SNOMEDCT_US:253883006", "UMLS:C0431718" ], "is_a": [ "HP:0000107" ], "is_obsolete": "", "replace_id": "" }, "HP:0005563": { "name": [ "decreased numbers of nephrons", "decreased number of nephron" ], "alt_id": [], "def": "A reduction in the count of nephrons per kidney.", "synonym": [ [ "decreased numbers of glomeruli", "decreased number of glomerulus" ], [ "oligonephronia", "oligonephronia" ] ], "xref": [ "UMLS:C1841994", "UMLS:C2673888" ], "is_a": [ "HP:0012575" ], "is_obsolete": "", "replace_id": "" }, "HP:0005564": { "name": [ "absence of renal corticomedullary differentiation", "absence of renal corticomedullary differentiation" ], "alt_id": [ "HP:0005581" ], "def": "A lack of differentiation between renal cortex and medulla on diagnostic imaging.", "synonym": [ [ "absent renal corticomedullary differentiation", "absent renal corticomedullary differentiation" ], [ "loss of corticomedullary differentiation", "loss of corticomedullary differentiation" ] ], "xref": [ "UMLS:C1849765" ], "is_a": [ "HP:0005932" ], "is_obsolete": "", "replace_id": "" }, "HP:0005565": { "name": [ "reduced renal corticomedullary differentiation", "reduce renal corticomedullary differentiation" ], "alt_id": [ "HP:0005573" ], "def": "Reduced differentiation between renal cortex and medulla on diagnostic imaging.", "synonym": [ [ "loss of definition of corticomedullary differentiation", "loss of definition of corticomedullary differentiation" ] ], "xref": [ "UMLS:C3807131" ], "is_a": [ "HP:0005932" ], "is_obsolete": "", "replace_id": "" }, "HP:0005567": { "name": [ "renal magnesium wasting", "renal magnesium wasting" ], "alt_id": [], "def": "High urine magnesium in the presence of hypomagnesemia.", "synonym": [], "xref": [ "MSH:C537152", "UMLS:C1835171" ], "is_a": [ "HP:0012607" ], "is_obsolete": "", "replace_id": "" }, "HP:0005571": { "name": [ "increased renal tubular phosphate reabsorption", "increase renal tubular phosphate reabsorption" ], "alt_id": [], "def": "", "synonym": [ [ "increased percent tubular reabsorption of phosphorus", "increase percent tubular reabsorption of phosphorus" ] ], "xref": [ "UMLS:C1968910" ], "is_a": [ "HP:0011038" ], "is_obsolete": "", "replace_id": "" }, "HP:0005572": { "name": [ "decreased renal tubular phosphate excretion", "decrease renal tubular phosphate excretion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1968899" ], "is_a": [ "HP:0011036" ], "is_obsolete": "", "replace_id": "" }, "HP:0005574": { "name": [ "non - acidotic proximal tubulopathy", "non - acidotic proximal tubulopathy" ], "alt_id": [], "def": "A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.", "synonym": [], "xref": [ "UMLS:C4025176" ], "is_a": [ "HP:0000114" ], "is_obsolete": "", "replace_id": "" }, "HP:0005575": { "name": [ "hemolytic - uremic syndrome", "hemolytic - uremic syndrome" ], "alt_id": [], "def": "A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease.", "synonym": [ [ "hemolytic uremic syndrome", "hemolytic uremic syndrome" ] ], "xref": [ "MSH:D006463", "SNOMEDCT_US:111407006", "UMLS:C0019061" ], "is_a": [ "HP:0012211" ], "is_obsolete": "", "replace_id": "" }, "HP:0005576": { "name": [ "tubulointerstitial fibrosis", "tubulointerstitial fibrosis" ], "alt_id": [ "HP:0000129", "HP:0004714", "HP:0008171" ], "def": "A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy.", "synonym": [ [ "tubulointerstitial renal fibrosis", "tubulointerstitial renal fibrosis" ], [ "tubulointerstitial scarring", "tubulointerstitial scarring" ] ], "xref": [ "UMLS:C1969372" ], "is_a": [ "HP:0001969", "HP:0030760" ], "is_obsolete": "", "replace_id": "" }, "HP:0005579": { "name": [ "impaired reabsorption of chloride", "impaired reabsorption of chloride" ], "alt_id": [], "def": "Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine.", "synonym": [ [ "impaired reabsorption of cl", "impaired reabsorption of cl" ], [ "impaired reabsorption of cl -", "impaired reabsorption of cl -" ] ], "xref": [ "UMLS:C1846349" ], "is_a": [ "HP:0011038" ], "is_obsolete": "", "replace_id": "" }, "HP:0005580": { "name": [ "duplication of renal pelvis", "duplication of renal pelvis" ], "alt_id": [], "def": "A duplication of the renal pelvis.", "synonym": [], "xref": [ "UMLS:C1839269" ], "is_a": [ "HP:0000075", "HP:0010944" ], "is_obsolete": "", "replace_id": "" }, "HP:0005583": { "name": [ "tubular basement membrane disintegration", "tubular basement membrane disintegration" ], "alt_id": [ "HP:0005577" ], "def": "DIsruption and breaking up of the basement membrane of the tubules of the kidney.", "synonym": [ [ "disintegration of the tubular basement membrane", "disintegration of the tubular basement membrane" ] ], "xref": [ "UMLS:C1968618" ], "is_a": [ "HP:0020131" ], "is_obsolete": "", "replace_id": "" }, "HP:0005584": { "name": [ "renal cell carcinoma", "renal cell carcinoma" ], "alt_id": [ "HP:0006720" ], "def": "A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.", "synonym": [ [ "cancer starting in small tubes in kidneys", "cancer start in small tube in kidney" ], [ "hypernephroma", "hypernephroma" ], [ "renal carcinoma", "renal carcinoma" ] ], "xref": [ "MSH:D002292", "NCIT:C2916", "SNOMEDCT_US:41607009", "SNOMEDCT_US:702391001", "UMLS:C0007134" ], "is_a": [ "HP:0009726" ], "is_obsolete": "", "replace_id": "" }, "HP:0005585": { "name": [ "spotty hyperpigmentation", "spotty hyperpigmentation" ], "alt_id": [], "def": "", "synonym": [ [ "patchy hyperpigmentation", "patchy hyperpigmentation" ], [ "spotty increased pigmentation", "spotty increase pigmentation" ] ], "xref": [ "UMLS:C3806179" ], "is_a": [ "HP:0007400" ], "is_obsolete": "", "replace_id": "" }, "HP:0005586": { "name": [ "hyperpigmentation in sun - exposed areas", "hyperpigmentation in sun - expose area" ], "alt_id": [], "def": "", "synonym": [ [ "hyperpigmentation of exposed areas", "hyperpigmentation of expose area" ], [ "increased pigmentation in sun - exposed areas", "increase pigmentation in sun - expose area" ] ], "xref": [ "UMLS:C3805877" ], "is_a": [ "HP:0000953" ], "is_obsolete": "", "replace_id": "" }, "HP:0005587": { "name": [ "profuse pigmented skin lesions", "profuse pigment skin lesion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1834424" ], "is_a": [ "HP:0001000" ], "is_obsolete": "", "replace_id": "" }, "HP:0005588": { "name": [ "patchy palmoplantar hyperkeratosis", "patchy palmoplantar hyperkeratosis" ], "alt_id": [], "def": "A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.", "synonym": [ [ "palmoplantar keratoderma , patchy", "palmoplantar keratoderma , patchy" ], [ "patchy palmoplantar keratoderma", "patchy palmoplantar keratoderma" ] ], "xref": [ "UMLS:C4021633" ], "is_a": [ "HP:0000972" ], "is_obsolete": "", "replace_id": "" }, "HP:0005590": { "name": [ "spotty hypopigmentation", "spotty hypopigmentation" ], "alt_id": [], "def": "", "synonym": [ [ "patchy depigmentation", "patchy depigmentation" ], [ "patchy hypopigmentation", "patchy hypopigmentation" ], [ "spotty decreased pigmentation", "spotty decrease pigmentation" ] ], "xref": [ "UMLS:C3806178" ], "is_a": [ "HP:0001053" ], "is_obsolete": "", "replace_id": "" }, "HP:0005592": { "name": [ "giant melanosomes in melanocytes", "giant melanosomes in melanocyte" ], "alt_id": [ "HP:0003342" ], "def": "The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.", "synonym": [ [ "macromelanosomes", "macromelanosomes" ] ], "xref": [ "UMLS:C3806221" ], "is_a": [ "HP:0011125" ], "is_obsolete": "", "replace_id": "" }, "HP:0005593": { "name": [ "macular hypopigmented whorls , streaks , and patches", "macular hypopigmented whorl , streak , and patch" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3806616" ], "is_a": [ "HP:0001053" ], "is_obsolete": "", "replace_id": "" }, "HP:0005595": { "name": [ "generalized hyperkeratosis", "generalize hyperkeratosis" ], "alt_id": [], "def": "", "synonym": [ [ "generalised hyperkeratosis", "generalise hyperkeratosis" ], [ "hyperkeratosis , generalised", "hyperkeratosis , generalise" ], [ "hyperkeratosis , generalized", "hyperkeratosis , generalize" ] ], "xref": [ "UMLS:C1969913" ], "is_a": [ "HP:0000962" ], "is_obsolete": "", "replace_id": "" }, "HP:0005597": { "name": [ "congenital alopecia totalis", "congenital alopecia totalis" ], "alt_id": [], "def": "Loss of all scalp hair with congenital onset.", "synonym": [], "xref": [ "UMLS:C4025175" ], "is_a": [ "HP:0007418" ], "is_obsolete": "", "replace_id": "" }, "HP:0005598": { "name": [ "facial telangiectasia in butterfly midface distribution", "facial telangiectasia in butterfly midface distribution" ], "alt_id": [], "def": "Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.", "synonym": [ [ "butterfly facial telangiectasia", "butterfly facial telangiectasia" ] ], "xref": [ "UMLS:C4021632" ], "is_a": [ "HP:0007380" ], "is_obsolete": "", "replace_id": "" }, "HP:0005599": { "name": [ "hypopigmentation of hair", "hypopigmentation of hair" ], "alt_id": [], "def": "", "synonym": [ [ "hair hypopigmentation", "hair hypopigmentation" ], [ "loss of hair color", "loss of hair color" ], [ "loss of hair colour", "loss of hair colour" ] ], "xref": [ "UMLS:C3278401" ], "is_a": [ "HP:0009887" ], "is_obsolete": "", "replace_id": "" }, "HP:0005600": { "name": [ "congenital giant melanocytic nevus", "congenital giant melanocytic nevus" ], "alt_id": [ "HP:0005604" ], "def": "The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child.", "synonym": [ [ "giant pigmented hairy nevus", "giant pigment hairy nevus" ], [ "giant pigmented mole", "giant pigment mole" ], [ "giant pigmented nevus", "giant pigment nevus" ] ], "xref": [ "MSH:C536819", "SNOMEDCT_US:10291008", "SNOMEDCT_US:254815002", "UMLS:C1842036" ], "is_a": [ "HP:0000995" ], "is_obsolete": "", "replace_id": "" }, "HP:0005602": { "name": [ "progressive vitiligo", "progressive vitiligo" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3806428" ], "is_a": [ "HP:0001045" ], "is_obsolete": "", "replace_id": "" }, "HP:0005603": { "name": [ "numerous congenital melanocytic nevi", "numerous congenital melanocytic nevus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3806415" ], "is_a": [ "HP:0000995" ], "is_obsolete": "", "replace_id": "" }, "HP:0005605": { "name": [ "large cafe - au - lait macules with irregular margins", "large cafe - au - lait macule with irregular margin" ], "alt_id": [], "def": "Large hypermelanotic macules with jagged borders.", "synonym": [], "xref": [ "UMLS:C4025174" ], "is_a": [ "HP:0001034" ], "is_obsolete": "", "replace_id": "" }, "HP:0005606": { "name": [ "hyperpigmented nevi and streak", "hyperpigmented nevus and streak" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3805692" ], "is_a": [ "HP:0000995" ], "is_obsolete": "", "replace_id": "" }, "HP:0005607": { "name": [ "abnormal tracheobronchial morphology", "abnormal tracheobronchial morphology" ], "alt_id": [ "HP:0005940" ], "def": "", "synonym": [ [ "tracheobronchial anomalies", "tracheobronchial anomaly" ] ], "xref": [ "Fyler:4232", "UMLS:C4021631" ], "is_a": [ "HP:0012252" ], "is_obsolete": "", "replace_id": "" }, "HP:0005608": { "name": [ "bilobate gallbladder", "bilobate gallbladder" ], "alt_id": [], "def": "The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.", "synonym": [ [ "bilobed gallbladder", "bilobed gallbladder" ], [ "double gallbladder", "double gallbladder" ], [ "gallbladder duplication", "gallbladder duplication" ] ], "xref": [ "UMLS:C1846422" ], "is_a": [ "HP:0012437" ], "is_obsolete": "", "replace_id": "" }, "HP:0005609": { "name": [ "gallbladder dysfunction", "gallbladder dysfunction" ], "alt_id": [], "def": "", "synonym": [ [ "gallbladder dysfunction", "gallbladder dysfunction" ] ], "xref": [ "SNOMEDCT_US:51047007", "UMLS:C0232769" ], "is_a": [ "HP:0012438" ], "is_obsolete": "", "replace_id": "" }, "HP:0005612": { "name": [ "arthrogryposis - like hand anomaly", "arthrogryposis - like hand anomaly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025173" ], "is_a": [ "HP:0005684" ], "is_obsolete": "", "replace_id": "" }, "HP:0005613": { "name": [ "aplasia / hypoplasia of the femur", "aplasia / hypoplasia of the femur" ], "alt_id": [ "HP:0006396", "HP:0006425" ], "def": "Absence or underdevelopment of the femur.", "synonym": [ [ "absent / small thighbone", "absent / small thighbone" ], [ "absent / underdeveloped thighbone", "absent / underdevelop thighbone" ], [ "hypoplastic to absent femora", "hypoplastic to absent femur" ], [ "hypoplastic / aplastic femora", "hypoplastic / aplastic femur" ] ], "xref": [ "UMLS:C1851310" ], "is_a": [ "HP:0002823", "HP:0006493" ], "is_obsolete": "", "replace_id": "" }, "HP:0005616": { "name": [ "accelerated skeletal maturation", "accelerate skeletal maturation" ], "alt_id": [ "HP:0002649", "HP:0005854" ], "def": "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.", "synonym": [ [ "advanced bone age", "advanced bone age" ], [ "early bone maturation", "early bone maturation" ] ], "xref": [ "SNOMEDCT_US:123982003", "UMLS:C0545053" ], "is_a": [ "HP:0000927" ], "is_obsolete": "", "replace_id": "" }, "HP:0005617": { "name": [ "bilateral camptodactyly", "bilateral camptodactyly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021830" ], "is_a": [ "HP:0100490" ], "is_obsolete": "", "replace_id": "" }, "HP:0005619": { "name": [ "thoracolumbar kyphosis", "thoracolumbar kyphosis" ], "alt_id": [ "HP:0003439" ], "def": "Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.", "synonym": [ [ "thoracolumbar gibbus", "thoracolumbar gibbus" ], [ "thoracolumbar gibbus deformity", "thoracolumbar gibbus deformity" ] ], "xref": [ "UMLS:C1855418" ], "is_a": [ "HP:0002942", "HP:0100712" ], "is_obsolete": "", "replace_id": "" }, "HP:0005620": { "name": [ "hypermobility of interphalangeal joints", "hypermobility of interphalangeal joint" ], "alt_id": [], "def": "The ability of the interphalangeal joints to move beyond their normal range of motion.", "synonym": [ [ "increased mobility of hinge joints", "increase mobility of hinge joint" ] ], "xref": [ "UMLS:C4025172" ], "is_a": [ "HP:0001382" ], "is_obsolete": "", "replace_id": "" }, "HP:0005621": { "name": [ "trapezoidal shaped vertebral bodies", "trapezoidal shape vertebral body" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025171" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0005622": { "name": [ "broad long bones", "broad long bone" ], "alt_id": [], "def": "Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.", "synonym": [ [ "broad long bones", "broad long bone" ], [ "wide long bones", "wide long bone" ], [ "widened long bones", "widen long bone" ] ], "xref": [ "UMLS:C4021630" ], "is_a": [ "HP:0011314" ], "is_obsolete": "", "replace_id": "" }, "HP:0005623": { "name": [ "absent ossification of calvaria", "absent ossification of calvaria" ], "alt_id": [], "def": "Absent ossification of the calvaria (vault of the skull).", "synonym": [ [ "absent bone maturation of skullcap", "absent bone maturation of skullcap" ], [ "absent ossification of skull vault", "absent ossification of skull vault" ] ], "xref": [ "UMLS:C4021629" ], "is_a": [ "HP:0005474" ], "is_obsolete": "", "replace_id": "" }, "HP:0005625": { "name": [ "osteoporosis of vertebrae", "osteoporosis of vertebra" ], "alt_id": [], "def": "Osteoporosis affecting predominantly the vertebrae.", "synonym": [], "xref": [ "UMLS:C4025170" ], "is_a": [ "HP:0003468", "HP:0040161" ], "is_obsolete": "", "replace_id": "" }, "HP:0005626": { "name": [ "posterior fusion of lumbosacral vertebrae", "posterior fusion of lumbosacral vertebra" ], "alt_id": [], "def": "Bony fusion of the posterior part of the L5 vertebral body with the sacrum.", "synonym": [], "xref": [ "UMLS:C4025169" ], "is_a": [ "HP:0002948" ], "is_obsolete": "", "replace_id": "" }, "HP:0005627": { "name": [ "type d brachydactyly", "type d brachydactyly" ], "alt_id": [], "def": "This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes.", "synonym": [ [ "brachydactyly type d", "brachydactyly type d" ] ], "xref": [ "MSH:C562420", "UMLS:C0220664" ], "is_a": [ "HP:0001156" ], "is_obsolete": "", "replace_id": "" }, "HP:0005632": { "name": [ "absent forearm", "absent forearm" ], "alt_id": [], "def": "", "synonym": [ [ "absent forearm", "absent forearm" ], [ "absent forearms", "absent forearm" ] ], "xref": [ "UMLS:C1408532" ], "is_a": [ "HP:0002973" ], "is_obsolete": "", "replace_id": "" }, "HP:0005638": { "name": [ "decreased anterioposterior diameter of lumbar vertebral bodies", "decrease anterioposterior diameter of lumbar vertebral body" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025168" ], "is_a": [ "HP:0008473" ], "is_obsolete": "", "replace_id": "" }, "HP:0005639": { "name": [ "hyperextensible hand joints", "hyperextensible hand joint" ], "alt_id": [], "def": "The ability of the joints of the hand to move beyond their normal range of motion.", "synonym": [], "xref": [ "UMLS:C1856877" ], "is_a": [ "HP:0001382" ], "is_obsolete": "", "replace_id": "" }, "HP:0005640": { "name": [ "abnormal vertebral segmentation and fusion", "abnormal vertebral segmentation and fusion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025167" ], "is_a": [ "HP:0002948" ], "is_obsolete": "", "replace_id": "" }, "HP:0005643": { "name": [ "short 3rd toe", "short 3rd toe" ], "alt_id": [], "def": "Underdevelopment (hypoplasia) of the third toe.", "synonym": [ [ "brachydactyly of third toes", "brachydactyly of third toe" ], [ "short 3rd toe", "short 3rd toe" ], [ "short third toe", "short third toe" ] ], "xref": [ "UMLS:C4021628" ], "is_a": [ "HP:0001831" ], "is_obsolete": "", "replace_id": "" }, "HP:0005645": { "name": [ "intervertebral disk calcification", "intervertebral disk calcification" ], "alt_id": [], "def": "The presence of abnormal calcium deposition of the intervertebral disk.", "synonym": [ [ "intervertebral disc calcification", "intervertebral disc calcification" ], [ "multiple intervertebral disc calcifications", "multiple intervertebral disc calcification" ], [ "multiple intervertebral disk calcifications", "multiple intervertebral disk calcification" ] ], "xref": [ "SNOMEDCT_US:240211000", "UMLS:C0410607" ], "is_a": [ "HP:0005108", "HP:0010766" ], "is_obsolete": "", "replace_id": "" }, "HP:0005648": { "name": [ "bilateral ulnar hypoplasia", "bilateral ulnar hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the ulna on both sides.", "synonym": [], "xref": [ "UMLS:C4025166" ], "is_a": [ "HP:0003022" ], "is_obsolete": "", "replace_id": "" }, "HP:0005650": { "name": [ "cutaneous syndactyly between fingers 2 and 5", "cutaneous syndactyly between finger 2 and 5" ], "alt_id": [], "def": "A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.", "synonym": [], "xref": [ "UMLS:C4025165" ], "is_a": [ "HP:0010554" ], "is_obsolete": "", "replace_id": "" }, "HP:0005652": { "name": [ "cortical sclerosis", "cortical sclerosis" ], "alt_id": [], "def": "Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.", "synonym": [], "xref": [ "UMLS:C4025164" ], "is_a": [ "HP:0003103", "HP:0011001" ], "is_obsolete": "", "replace_id": "" }, "HP:0005653": { "name": [ "moderate generalized osteoporosis", "moderate generalize osteoporosis" ], "alt_id": [], "def": "Moderate osteoporosis.", "synonym": [ [ "moderate generalised osteoporosis", "moderate generalise osteoporosis" ] ], "xref": [ "UMLS:C4025163" ], "is_a": [ "HP:0040160" ], "is_obsolete": "", "replace_id": "" }, "HP:0005655": { "name": [ "multiple digital exostoses", "multiple digital exostosis" ], "alt_id": [], "def": "Multiple exostoses originating in the fingers and toes.", "synonym": [], "xref": [ "UMLS:C4025162" ], "is_a": [ "HP:0002762" ], "is_obsolete": "", "replace_id": "" }, "HP:0005656": { "name": [ "positional foot deformity", "positional foot deformity" ], "alt_id": [], "def": "A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.", "synonym": [], "xref": [ "UMLS:C4025161" ], "is_a": [ "HP:0001760" ], "is_obsolete": "", "replace_id": "" }, "HP:0005659": { "name": [ "thoracic kyphoscoliosis", "thoracic kyphoscoliosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4015465" ], "is_a": [ "HP:0002943" ], "is_obsolete": "", "replace_id": "" }, "HP:0005661": { "name": [ "salmonella osteomyelitis", "salmonella osteomyelitis" ], "alt_id": [], "def": "Osteomyelitis caused by infection with the bacteria, salmonella.", "synonym": [ [ "salmonella bone infection", "salmonella bone infection" ] ], "xref": [ "SNOMEDCT_US:6803002", "UMLS:C0152491" ], "is_a": [ "HP:0002754" ], "is_obsolete": "", "replace_id": "" }, "HP:0005665": { "name": [ "massively thickened long bone cortices", "massively thicken long bone cortex" ], "alt_id": [], "def": "Extreme thickening of the cortex of long bones.", "synonym": [], "xref": [ "UMLS:C4025160" ], "is_a": [ "HP:0000935" ], "is_obsolete": "", "replace_id": "" }, "HP:0005667": { "name": [ "os odontoideum", "o odontoideum" ], "alt_id": [], "def": "Separation of the odontoid process from the body of the axis.", "synonym": [], "xref": [ "SNOMEDCT_US:445242006", "UMLS:C2919848" ], "is_a": [ "HP:0003310" ], "is_obsolete": "", "replace_id": "" }, "HP:0005671": { "name": [ "bilateral intracerebral calcifications", "bilateral intracerebral calcification" ], "alt_id": [], "def": "Deposition of calcium salts on both sides of the brain.", "synonym": [ [ "bilateral intracranial calcifications", "bilateral intracranial calcification" ] ], "xref": [ "UMLS:C4025159" ], "is_a": [ "HP:0002514" ], "is_obsolete": "", "replace_id": "" }, "HP:0005676": { "name": [ "rudimentary postaxial polydactyly of hands", "rudimentary postaxial polydactyly of hand" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025158" ], "is_a": [ "HP:0001162" ], "is_obsolete": "", "replace_id": "" }, "HP:0005678": { "name": [ "anterior atlanto - occipital dislocation", "anterior atlanto - occipital dislocation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025157" ], "is_a": [ "HP:0003414" ], "is_obsolete": "", "replace_id": "" }, "HP:0005679": { "name": [ "dupuytren contracture", "dupuytren contracture" ], "alt_id": [], "def": "An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints.", "synonym": [], "xref": [ "MSH:D004387", "SNOMEDCT_US:203045001", "SNOMEDCT_US:203047009", "SNOMEDCT_US:274142002", "SNOMEDCT_US:410813000", "UMLS:C0013312" ], "is_a": [ "HP:0009473" ], "is_obsolete": "", "replace_id": "" }, "HP:0005680": { "name": [ "tongue - like lumbar vertebral deformities", "tongue - like lumbar vertebral deformity" ], "alt_id": [], "def": "A tongue-like protusion from the anterior aspect of lumbar vertebral bodies.", "synonym": [], "xref": [ "UMLS:C4025156" ], "is_a": [ "HP:0008430" ], "is_obsolete": "", "replace_id": "" }, "HP:0005681": { "name": [ "juvenile rheumatoid arthritis", "juvenile rheumatoid arthritis" ], "alt_id": [], "def": "", "synonym": [ [ "juvenile idiopathic arthritis", "juvenile idiopathic arthritis" ], [ "juvenile ra", "juvenile ra" ], [ "rheumatoid arthritis , juvenile", "rheumatoid arthritis , juvenile" ] ], "xref": [ "SNOMEDCT_US:410795001", "UMLS:C3714757" ], "is_a": [ "HP:0001370" ], "is_obsolete": "", "replace_id": "" }, "HP:0005682": { "name": [ "talocalcaneal synostosis", "talocalcaneal synostosis" ], "alt_id": [], "def": "", "synonym": [ [ "fusion of foot joint", "fusion of foot joint" ], [ "fusion of the subtalar joint", "fusion of the subtalar joint" ] ], "xref": [ "UMLS:C4025155", "UMLS:C4255214" ], "is_a": [ "HP:0008368" ], "is_obsolete": "", "replace_id": "" }, "HP:0005684": { "name": [ "distal arthrogryposis", "distal arthrogryposis" ], "alt_id": [], "def": "An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.", "synonym": [], "xref": [ "SNOMEDCT_US:24269006", "UMLS:C0265213" ], "is_a": [ "HP:0002803" ], "is_obsolete": "", "replace_id": "" }, "HP:0005686": { "name": [ "patchy osteosclerosis", "patchy osteosclerosis" ], "alt_id": [], "def": "Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.", "synonym": [ [ "patchy increase of bone mineral density", "patchy increase of bone mineral density" ], [ "uneven increase in bone density", "uneven increase in bone density" ] ], "xref": [ "UMLS:C1855845" ], "is_a": [ "HP:0010658", "HP:0011001" ], "is_obsolete": "", "replace_id": "" }, "HP:0005687": { "name": [ "deformed humeral heads", "deform humeral head" ], "alt_id": [], "def": "", "synonym": [ [ "deformed head of long bone in upper arm", "deform head of long bone in upper arm" ] ], "xref": [ "UMLS:C4025154" ], "is_a": [ "HP:0003871" ], "is_obsolete": "", "replace_id": "" }, "HP:0005688": { "name": [ "dysplastic distal thumb phalanges with a central hole", "dysplastic distal thumb phalanx with a central hole" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025153" ], "is_a": [ "HP:0009617" ], "is_obsolete": "", "replace_id": "" }, "HP:0005689": { "name": [ "dermatoglyphic ridges abnormal", "dermatoglyphic ridge abnormal" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025152" ], "is_a": [ "HP:0001018" ], "is_obsolete": "", "replace_id": "" }, "HP:0005692": { "name": [ "joint hyperflexibility", "joint hyperflexibility" ], "alt_id": [], "def": "Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.", "synonym": [ [ "joints move beyond expected range of motion", "joint move beyond expect range of motion" ] ], "xref": [ "UMLS:C3553764" ], "is_a": [ "HP:0001382" ], "is_obsolete": "", "replace_id": "" }, "HP:0005694": { "name": [ "partial fusion of proximal row of carpal bones", "partial fusion of proximal row of carpal bone" ], "alt_id": [], "def": "", "synonym": [ [ "partial fusion of innermost row of wrist bones", "partial fusion of innermost row of wrist bone" ] ], "xref": [ "UMLS:C3152021" ], "is_a": [ "HP:0009702" ], "is_obsolete": "", "replace_id": "" }, "HP:0005696": { "name": [ "postaxial polydactyly type a", "postaxial polydactyly type a" ], "alt_id": [], "def": "Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.", "synonym": [], "xref": [ "MSH:C562429", "SNOMEDCT_US:715704001", "UMLS:C3887487" ], "is_a": [ "HP:0001162" ], "is_obsolete": "", "replace_id": "" }, "HP:0005700": { "name": [ "increased bone density with cystic changes", "increase bone density with cystic change" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025151" ], "is_a": [ "HP:0011001" ], "is_obsolete": "", "replace_id": "" }, "HP:0005701": { "name": [ "multiple enchondromatosis", "multiple enchondromatosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D004687", "SNOMEDCT_US:268274005", "UMLS:C0014084" ], "is_a": [ "HP:0002763", "HP:0030038" ], "is_obsolete": "", "replace_id": "" }, "HP:0005707": { "name": [ "bilateral triphalangeal thumbs", "bilateral triphalangeal thumb" ], "alt_id": [], "def": "A bilateral form of triphalangeal thumb.", "synonym": [ [ "bilateral digitalized thumb", "bilateral digitalize thumb" ] ], "xref": [ "UMLS:C4021627" ], "is_a": [ "HP:0001199" ], "is_obsolete": "", "replace_id": "" }, "HP:0005709": { "name": [ "2 - 3 toe cutaneous syndactyly", "2 - 3 toe cutaneous syndactyly" ], "alt_id": [], "def": "", "synonym": [ [ "complete cutaneous syndactyly of second and third toes", "complete cutaneous syndactyly of second and third toe" ], [ "cutaneous 2,3 toe syndactyly", "cutaneous 2,3 toe syndactyly" ], [ "cutaneous syndactyly of second and third toes", "cutaneous syndactyly of second and third toe" ], [ "webbed skin of 2nd - 3rd toes", "webbed skin of 2nd - 3rd toe" ] ], "xref": [ "SNOMEDCT_US:205145001", "UMLS:C0432040" ], "is_a": [ "HP:0010621" ], "is_obsolete": "", "replace_id": "" }, "HP:0005715": { "name": [ "flattened knee epiphyses", "flatten knee epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "flattened end part of knee bone", "flatten end part of knee bone" ] ], "xref": [ "UMLS:C4025150" ], "is_a": [ "HP:0002815", "HP:0003071" ], "is_obsolete": "", "replace_id": "" }, "HP:0005716": { "name": [ "lethal skeletal dysplasia", "lethal skeletal dysplasia" ], "alt_id": [ "HP:0008898" ], "def": "", "synonym": [ [ "lethal dwarfism identifiable at birth", "lethal dwarfism identifiable at birth" ] ], "xref": [ "UMLS:C4021626" ], "is_a": [ "HP:0002652" ], "is_obsolete": "", "replace_id": "" }, "HP:0005720": { "name": [ "shortening of all metacarpals", "shortening of all metacarpal" ], "alt_id": [], "def": "Abnormal reduction in length of all metacarpal bones.", "synonym": [], "xref": [ "UMLS:C4025149" ], "is_a": [ "HP:0010049" ], "is_obsolete": "", "replace_id": "" }, "HP:0005722": { "name": [ "hyperextensible thumb", "hyperextensible thumb" ], "alt_id": [], "def": "The ability of the thumb joints to move beyond their normal range of motion.", "synonym": [ [ "double jointed thumb", "double joint thumb" ] ], "xref": [ "UMLS:C4025148" ], "is_a": [ "HP:0005639" ], "is_obsolete": "", "replace_id": "" }, "HP:0005723": { "name": [ "shoe - shaped sella turcica", "shoe - shape sella turcica" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025147" ], "is_a": [ "HP:0002681" ], "is_obsolete": "", "replace_id": "" }, "HP:0005725": { "name": [ "nonopposable triphalangeal thumb", "nonopposable triphalangeal thumb" ], "alt_id": [], "def": "A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.", "synonym": [], "xref": [ "MSH:C536562", "UMLS:C2931238" ], "is_a": [ "HP:0001199" ], "is_obsolete": "", "replace_id": "" }, "HP:0005726": { "name": [ "thumbs hypoplastic with bulbous tips", "thumb hypoplastic with bulbous tip" ], "alt_id": [], "def": "", "synonym": [ [ "short thumbs with bulbous tips", "short thumb with bulbous tip" ] ], "xref": [ "UMLS:C4025146" ], "is_a": [ "HP:0009778" ], "is_obsolete": "", "replace_id": "" }, "HP:0005731": { "name": [ "cortical irregularity", "cortical irregularity" ], "alt_id": [], "def": "An abnormal irregularity of cortical bone.", "synonym": [], "xref": [ "UMLS:C4025145" ], "is_a": [ "HP:0003103" ], "is_obsolete": "", "replace_id": "" }, "HP:0005733": { "name": [ "spinal stenosis with reduced interpedicular distance", "spinal stenosis with reduced interpedicular distance" ], "alt_id": [ "HP:0004597" ], "def": "An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging).", "synonym": [ [ "spinal stenosis due to short pedicles", "spinal stenosis due to short pedicle" ] ], "xref": [ "UMLS:C4021625" ], "is_a": [ "HP:0003416" ], "is_obsolete": "", "replace_id": "" }, "HP:0005736": { "name": [ "short tibia", "short tibia" ], "alt_id": [ "HP:0002993", "HP:0006436", "HP:0006445" ], "def": "Underdevelopment (reduced size) of the tibia.", "synonym": [ [ "hypoplasia of the tibia", "hypoplasia of the tibia" ], [ "hypoplastic tibia", "hypoplastic tibia" ], [ "short shinbone", "short shinbone" ], [ "short skankbone", "short skankbone" ], [ "short tibiae", "short tibia" ], [ "shortening of the shankbone", "shortening of the shankbone" ], [ "shortening of the shinbone", "shortening of the shinbone" ], [ "shortening of the tibia", "shortening of the tibia" ] ], "xref": [ "UMLS:C1850259", "UMLS:C1855277" ], "is_a": [ "HP:0003026", "HP:0005772" ], "is_obsolete": "", "replace_id": "" }, "HP:0005739": { "name": [ "posterior subluxation of radial head", "posterior subluxation of radial head" ], "alt_id": [], "def": "Partial dislocation of the head of the radius in the posterior direction.", "synonym": [], "xref": [ "UMLS:C3149878" ], "is_a": [ "HP:0003048" ], "is_obsolete": "", "replace_id": "" }, "HP:0005743": { "name": [ "avascular necrosis of the capital femoral epiphysis", "avascular necrosis of the capital femoral epiphysis" ], "alt_id": [ "HP:0003280", "HP:0006448", "HP:0010887" ], "def": "Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.", "synonym": [ [ "coxa plana", "coxa plana" ], [ "legg - calve - perthes syndrome", "legg - calve - perthes syndrome" ], [ "legg - perthes disease", "legg - perthes disease" ], [ "morbus legg - calve - perthes", "morbus legg - calve - perthes" ], [ "osteochondrosis of the femoral head", "osteochondrosis of the femoral head" ], [ "osteonecrosis of the femoral head", "osteonecrosis of the femoral head" ], [ "perthes - like femoral head changes", "perthes - like femoral head change" ] ], "xref": [ "ICD-10:M91.1", "MSH:D007873", "SNOMEDCT_US:111255008", "SNOMEDCT_US:240241003", "UMLS:C0023234" ], "is_a": [ "HP:0010574", "HP:0100323" ], "is_obsolete": "", "replace_id": "" }, "HP:0005744": { "name": [ "obsolete generalized osteoporosis with pathologic fractures", "obsolete generalize osteoporosis with pathologic fracture" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0040160" }, "HP:0005745": { "name": [ "congenital foot contractures", "congenital foot contracture" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025144" ], "is_a": [ "HP:0002803", "HP:0005750" ], "is_obsolete": "", "replace_id": "" }, "HP:0005746": { "name": [ "osteosclerosis of the base of the skull", "osteosclerosis of the base of the skull" ], "alt_id": [], "def": "An increase in bone density affecting the basicranium (base of the skull).", "synonym": [ [ "osteosclerosis of the skull base", "osteosclerosis of the skull base" ] ], "xref": [ "UMLS:C4021624" ], "is_a": [ "HP:0005464" ], "is_obsolete": "", "replace_id": "" }, "HP:0005747": { "name": [ "easily subluxated first metacarpophalangeal joints", "easily subluxate first metacarpophalangeal joint" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025143" ], "is_a": [ "HP:0004294" ], "is_obsolete": "", "replace_id": "" }, "HP:0005750": { "name": [ "contractures of the joints of the lower limbs", "contracture of the joint of the low limb" ], "alt_id": [], "def": "", "synonym": [ [ "contractures , lower limbs", "contracture , low limb" ] ], "xref": [ "UMLS:C1859523" ], "is_a": [ "HP:0003121" ], "is_obsolete": "", "replace_id": "" }, "HP:0005752": { "name": [ "flattened moderately deformed vertebrae", "flatten moderately deformed vertebra" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025142" ], "is_a": [ "HP:0000926" ], "is_obsolete": "", "replace_id": "" }, "HP:0005756": { "name": [ "neonatal epiphyseal stippling", "neonatal epiphyseal stipple" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.", "synonym": [ [ "epiphyseal stippling in neonates", "epiphyseal stipple in neonate" ], [ "speckled calcifications in bone end parts in neonates", "speckled calcification in bone end part in neonate" ] ], "xref": [ "UMLS:C4021623" ], "is_a": [ "HP:0010655" ], "is_obsolete": "", "replace_id": "" }, "HP:0005758": { "name": [ "basilar impression", "basilar impression" ], "alt_id": [], "def": "Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.", "synonym": [], "xref": [ "MSH:D010985", "SNOMEDCT_US:86587003", "UMLS:C0032209" ], "is_a": [ "HP:0000932" ], "is_obsolete": "", "replace_id": "" }, "HP:0005759": { "name": [ "small flat posterior fossa", "small flat posterior fossa" ], "alt_id": [], "def": "An abnormally small and flat configuration of the posterior cranial fossa.", "synonym": [ [ "small and flat posterior fossa of skull", "small and flat posterior fossa of skull" ], [ "small and flat posterior skull bones", "small and flat posterior skull bone" ] ], "xref": [ "UMLS:C4025141" ], "is_a": [ "HP:0040010", "HP:0040011" ], "is_obsolete": "", "replace_id": "" }, "HP:0005764": { "name": [ "polyarticular arthritis", "polyarticular arthritis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D001168", "SNOMEDCT_US:416956002", "SNOMEDCT_US:417373000", "UMLS:C0162323" ], "is_a": [ "HP:0005195" ], "is_obsolete": "", "replace_id": "" }, "HP:0005765": { "name": [ "sacral meningocele", "sacral meningocele" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:95478002", "UMLS:C0521556" ], "is_a": [ "HP:0005107" ], "is_obsolete": "", "replace_id": "" }, "HP:0005766": { "name": [ "disproportionate shortening of the tibia", "disproportionate shortening of the tibia" ], "alt_id": [], "def": "", "synonym": [ [ "disproportionate shortening of the shankbone", "disproportionate shortening of the shankbone" ], [ "disproportionate shortening of the shinbone", "disproportionate shortening of the shinbone" ], [ "marked shortening of tibia", "marked shortening of tibia" ] ], "xref": [ "UMLS:C3806516" ], "is_a": [ "HP:0005736" ], "is_obsolete": "", "replace_id": "" }, "HP:0005767": { "name": [ "1 - 2 toe complete cutaneous syndactyly", "1 - 2 toe complete cutaneous syndactyly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025140" ], "is_a": [ "HP:0010621" ], "is_obsolete": "", "replace_id": "" }, "HP:0005768": { "name": [ "2 - 4 toe cutaneous syndactyly", "2 - 4 toe cutaneous syndactyly" ], "alt_id": [], "def": "A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.", "synonym": [ [ "soft tissue syndactyly of toes 2 , 3 , and 4", "soft tissue syndactyly of toe 2 , 3 , and 4" ], [ "webbed 2nd , 3rd and 4th toes", "webbed 2nd , 3rd and 4th toe" ], [ "webbed second , third and fourth toes", "webbed second , third and fourth toe" ] ], "xref": [ "UMLS:C4021622" ], "is_a": [ "HP:0010621" ], "is_obsolete": "", "replace_id": "" }, "HP:0005769": { "name": [ "fifth finger distal phalanx clinodactyly", "fifth finger distal phalanx clinodactyly" ], "alt_id": [], "def": "Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).", "synonym": [ [ "curvature of outermost bone of little finger", "curvature of outermost bone of little finger" ], [ "curvature of outermost bone of pinkie finger", "curvature of outermost bone of pinkie finger" ], [ "curvature of outermost bone of pinky finger", "curvature of outermost bone of pinky finger" ] ], "xref": [ "UMLS:C4025139", "UMLS:C4280477" ], "is_a": [ "HP:0004209", "HP:0004225" ], "is_obsolete": "", "replace_id": "" }, "HP:0005772": { "name": [ "aplasia / hypoplasia of the tibia", "aplasia / hypoplasia of the tibia" ], "alt_id": [], "def": "Absence or underdevelopment of the tibia.", "synonym": [ [ "absent / hypoplastic tibia", "absent / hypoplastic tibia" ], [ "absent / small shankbone", "absent / small shankbone" ], [ "absent / small shinbone", "absent / small shinbone" ], [ "absent / underdeveloped shankbone", "absent / underdevelop shankbone" ], [ "absent / underdeveloped shinbone", "absent / underdevelop shinbone" ], [ "aplastic / hypoplastic tibia", "aplastic / hypoplastic tibia" ] ], "xref": [ "UMLS:C1969181" ], "is_a": [ "HP:0002992", "HP:0006493" ], "is_obsolete": "", "replace_id": "" }, "HP:0005773": { "name": [ "short forearm", "short forearm" ], "alt_id": [], "def": "Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.", "synonym": [ [ "short forearm", "short forearm" ] ], "xref": [ "UMLS:C1855299" ], "is_a": [ "HP:0009821" ], "is_obsolete": "", "replace_id": "" }, "HP:0005775": { "name": [ "multiple skeletal anomalies", "multiple skeletal anomaly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025138" ], "is_a": [ "HP:0002652" ], "is_obsolete": "", "replace_id": "" }, "HP:0005776": { "name": [ "carpal bone malsegmentation", "carpal bone malsegmentation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025137" ], "is_a": [ "HP:0001191" ], "is_obsolete": "", "replace_id": "" }, "HP:0005780": { "name": [ "absent fourth finger distal interphalangeal crease", "absent fourth finger distal interphalangeal crease" ], "alt_id": [], "def": "Absence of the distal interphalangeal flexion creases of the fourth finger.", "synonym": [ [ "no fourth finger distal interphalangeal crease", "no fourth finger distal interphalangeal crease" ] ], "xref": [ "UMLS:C4021621" ], "is_a": [ "HP:0001032" ], "is_obsolete": "", "replace_id": "" }, "HP:0005781": { "name": [ "contractures of the large joints", "contracture of the large joint" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1859698" ], "is_a": [ "HP:0001371" ], "is_obsolete": "", "replace_id": "" }, "HP:0005787": { "name": [ "lumbar platyspondyly", "lumbar platyspondyly" ], "alt_id": [ "HP:0004588" ], "def": "A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine.", "synonym": [], "xref": [ "UMLS:C4025136" ], "is_a": [ "HP:0000926" ], "is_obsolete": "", "replace_id": "" }, "HP:0005788": { "name": [ "abnormal cervical myelogram", "abnormal cervical myelogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025135" ], "is_a": [ "HP:0002318" ], "is_obsolete": "", "replace_id": "" }, "HP:0005789": { "name": [ "generalized osteosclerosis", "generalize osteosclerosis" ], "alt_id": [ "HP:0005805" ], "def": "An abnormal increase of bone mineral density with generalized involvement of the skeleton.", "synonym": [ [ "diffuse , symmetrical osteosclerosis", "diffuse , symmetrical osteosclerosis" ], [ "generalised osteosclerosis", "generalise osteosclerosis" ], [ "increased bone density in skeletal bones", "increase bone density in skeletal bone" ], [ "osteosclerosis , diffuse symmetrical", "osteosclerosis , diffuse symmetrical" ] ], "xref": [ "UMLS:C1843331", "UMLS:C4280476" ], "is_a": [ "HP:0011001" ], "is_obsolete": "", "replace_id": "" }, "HP:0005790": { "name": [ "short mandibular condyles", "short mandibular condyle" ], "alt_id": [], "def": "", "synonym": [ [ "bilateral hypoplasia of condylar process of mandible", "bilateral hypoplasia of condylar process of mandible" ], [ "bilateral hypoplasia of mandibular condylar head", "bilateral hypoplasia of mandibular condylar head" ], [ "bilateral hypoplasia of mandibular condylar neck", "bilateral hypoplasia of mandibular condylar neck" ], [ "decreased height of condylar process of mandible", "decreased height of condylar process of mandible" ], [ "decreased length of condylar process of mandible", "decreased length of condylar process of mandible" ], [ "short condylar head of mandible", "short condylar head of mandible" ], [ "short condylar neck of mandible", "short condylar neck of mandible" ], [ "short condylar process of mandible", "short condylar process of mandible" ] ], "xref": [ "UMLS:C4025134", "UMLS:C4280474", "UMLS:C4280475" ], "is_a": [ "HP:0003778", "HP:3000077" ], "is_obsolete": "", "replace_id": "" }, "HP:0005791": { "name": [ "cortical thickening of long bone diaphyses", "cortical thickening of long bone diaphysis" ], "alt_id": [], "def": "Abnormal thickening of the cortex of the diaphyseal region of long bones.", "synonym": [], "xref": [ "UMLS:C4025133" ], "is_a": [ "HP:0000935", "HP:0000940" ], "is_obsolete": "", "replace_id": "" }, "HP:0005792": { "name": [ "short humerus", "short humerus" ], "alt_id": [ "HP:0002989", "HP:0003014", "HP:0003064", "HP:0006419", "HP:0006464", "HP:0006468" ], "def": "Underdevelopment of the humerus.", "synonym": [ [ "humeral hypoplasia", "humeral hypoplasia" ], [ "humeral shortening", "humeral shortening" ], [ "hypoplastic humerus", "hypoplastic humerus" ], [ "short humeri", "short humerus" ], [ "short humerus", "short humerus" ], [ "short long bone of upper arm", "short long bone of upper arm" ], [ "short upper arms", "short upper arm" ] ], "xref": [ "UMLS:C1832117" ], "is_a": [ "HP:0003026", "HP:0006507" ], "is_obsolete": "", "replace_id": "" }, "HP:0005793": { "name": [ "shortening of all distal phalanges of the toes", "shortening of all distal phalanx of the toe" ], "alt_id": [], "def": "Abnormally short distal phalanx of toe of all toes.", "synonym": [ [ "shortening of all outermost bone of the toes", "shortening of all outermost bone of the toe" ] ], "xref": [ "UMLS:C4025132" ], "is_a": [ "HP:0001857" ], "is_obsolete": "", "replace_id": "" }, "HP:0005794": { "name": [ "obsolete arterial disease of legs", "obsolete arterial disease of leg" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0004950" }, "HP:0005798": { "name": [ "posterior radial head dislocation", "posterior radial head dislocation" ], "alt_id": [], "def": "A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction.", "synonym": [], "xref": [ "MSH:C566728", "UMLS:C1867398" ], "is_a": [ "HP:0003083" ], "is_obsolete": "", "replace_id": "" }, "HP:0005802": { "name": [ "coalescence of tarsal bones", "coalescence of tarsal bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025130" ], "is_a": [ "HP:0008368" ], "is_obsolete": "", "replace_id": "" }, "HP:0005807": { "name": [ "absent distal phalanges", "absent distal phalanx" ], "alt_id": [], "def": "Aplasia (absence) of the distal phalanges.", "synonym": [ [ "absent outermost digital bones", "absent outermost digital bone" ] ], "xref": [ "UMLS:C1861339" ], "is_a": [ "HP:0009835" ], "is_obsolete": "", "replace_id": "" }, "HP:0005815": { "name": [ "supernumerary ribs", "supernumerary rib" ], "alt_id": [ "HP:0000901" ], "def": "The presence of more than 12 rib pairs.", "synonym": [ [ "extra ribs", "extra rib" ] ], "xref": [ "SNOMEDCT_US:205460009", "UMLS:C0345397" ], "is_a": [ "HP:0000772", "HP:0009144" ], "is_obsolete": "", "replace_id": "" }, "HP:0005817": { "name": [ "postaxial polysyndactyly of foot", "postaxial polysyndactyly of foot" ], "alt_id": [], "def": "Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe).", "synonym": [], "xref": [ "UMLS:C4021824" ], "is_a": [ "HP:0001830" ], "is_obsolete": "", "replace_id": "" }, "HP:0005819": { "name": [ "short middle phalanx of finger", "short middle phalanx of finger" ], "alt_id": [ "HP:0001208", "HP:0006068", "HP:0006081", "HP:0010240" ], "def": "Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.", "synonym": [ [ "brachymesophalangy", "brachymesophalangy" ], [ "disproportionately short middle phalanges", "disproportionately short middle phalanx" ], [ "hypoplasia of the middle phalanges of the hand", "hypoplasia of the middle phalanx of the hand" ], [ "hypoplastic middle phalanges", "hypoplastic middle phalanx" ], [ "hypoplastic middle phalanx", "hypoplastic middle phalanx" ], [ "midphalangeal hypoplasia", "midphalangeal hypoplasia" ], [ "short middle bone of finger", "short middle bone of finger" ], [ "short middle phalanges", "short middle phalanx" ], [ "shortened middle finger bones", "shorten middle finger bone" ] ], "xref": [ "UMLS:C1846950" ], "is_a": [ "HP:0009381", "HP:0009803", "HP:0009843" ], "is_obsolete": "", "replace_id": "" }, "HP:0005820": { "name": [ "superior rib anomalies", "superior rib anomaly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025129" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0005824": { "name": [ "clinodactyly of the 2nd toe", "clinodactyly of the 2nd toe" ], "alt_id": [], "def": "Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe).", "synonym": [ [ "clinodactyly of second toes", "clinodactyly of second toe" ], [ "curvature of 2nd toe", "curvature of 2nd toe" ] ], "xref": [ "UMLS:C4021620", "UMLS:C4280473" ], "is_a": [ "HP:0001863", "HP:0010326" ], "is_obsolete": "", "replace_id": "" }, "HP:0005825": { "name": [ "mixed sclerosis of humeral metaphyses", "mixed sclerosis of humeral metaphyses" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025128" ], "is_a": [ "HP:0003918" ], "is_obsolete": "", "replace_id": "" }, "HP:0005828": { "name": [ "transient pulmonary infiltrates", "transient pulmonary infiltrates" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3805920" ], "is_a": [ "HP:0002113" ], "is_obsolete": "", "replace_id": "" }, "HP:0005829": { "name": [ "maldevelopment of radioulnar joint", "maldevelopment of radioulnar joint" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3149879" ], "is_a": [ "HP:0003059" ], "is_obsolete": "", "replace_id": "" }, "HP:0005830": { "name": [ "flexion contracture of toe", "flexion contracture of toe" ], "alt_id": [ "HP:0001860", "HP:0008128", "HP:0008367", "HP:0200027" ], "def": "One or more bent (flexed) toe joints that cannot be straightened actively or passively.", "synonym": [ [ "contractures involving the toes", "contracture involve the toe" ], [ "contractures of the toes", "contracture of the toe" ], [ "toe contractures", "toe contracture" ] ], "xref": [ "UMLS:C1406835" ], "is_a": [ "HP:0001780", "HP:0008366", "HP:0030044", "HP:0100492" ], "is_obsolete": "", "replace_id": "" }, "HP:0005831": { "name": [ "type b brachydactyly", "type b brachydactyly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C566196", "UMLS:C1862112" ], "is_a": [ "HP:0001156" ], "is_obsolete": "", "replace_id": "" }, "HP:0005832": { "name": [ "dysharmonic delayed bone age", "dysharmonic delay bone age" ], "alt_id": [ "HP:0005840" ], "def": "A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones.", "synonym": [], "xref": [ "UMLS:C1859444" ], "is_a": [ "HP:0002750", "HP:0200000" ], "is_obsolete": "", "replace_id": "" }, "HP:0005833": { "name": [ "obsolete joint swelling onset late infancy", "obsolete joint swell onset late infancy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0005834": { "name": [ "obsolete thumbs hypo / aplastic", "obsolete thumb hypo / aplastic" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0009658" }, "HP:0005837": { "name": [ "obsolete joint dislocations in young adult", "obsolete joint dislocation in young adult" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001373" }, "HP:0005841": { "name": [ "calcific stippling of infantile cartilaginous skeleton", "calcific stippling of infantile cartilaginous skeleton" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1859135" ], "is_a": [ "HP:0003336" ], "is_obsolete": "", "replace_id": "" }, "HP:0005844": { "name": [ "rounded middle phalanx of finger", "round middle phalanx of finger" ], "alt_id": [], "def": "An abnormally round shape of the middle phalanx of the finger.", "synonym": [ [ "rounded middle bone of finger", "round middle bone of finger" ] ], "xref": [ "UMLS:C4025126" ], "is_a": [ "HP:0009833" ], "is_obsolete": "", "replace_id": "" }, "HP:0005848": { "name": [ "obsolete bifid thumb distal phalanx", "obsolete bifid thumb distal phalanx" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0009611" }, "HP:0005849": { "name": [ "diffuse cerebral calcification", "diffuse cerebral calcification" ], "alt_id": [], "def": "Generalized deposition of calcium salts within the brain.", "synonym": [], "xref": [ "UMLS:C4025125" ], "is_a": [ "HP:0002514" ], "is_obsolete": "", "replace_id": "" }, "HP:0005850": { "name": [ "congenital talipes calcaneovalgus", "congenital talipes calcaneovalgus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D005413", "SNOMEDCT_US:205083002", "SNOMEDCT_US:31668003", "UMLS:C0152237" ], "is_a": [ "HP:0001884" ], "is_obsolete": "", "replace_id": "" }, "HP:0005852": { "name": [ "limited elbow extension and supination", "limited elbow extension and supination" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025124" ], "is_a": [ "HP:0001377" ], "is_obsolete": "", "replace_id": "" }, "HP:0005853": { "name": [ "congenital foot contraction deformities", "congenital foot contraction deformity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025123" ], "is_a": [ "HP:0002803" ], "is_obsolete": "", "replace_id": "" }, "HP:0005855": { "name": [ "multiple prenatal fractures", "multiple prenatal fracture" ], "alt_id": [ "HP:0002811", "HP:0005761" ], "def": "The presence of bone fractures in the prenatal period that are diagnosed at birth or before.", "synonym": [ [ "congenital bone fractures", "congenital bone fracture" ], [ "multiple fractures present at birth", "multiple fracture present at birth" ], [ "multiple fractures , present at birth", "multiple fracture , present at birth" ], [ "numerous multiple fractures present at birth", "numerous multiple fracture present at birth" ], [ "numerous multiple fractures that are present at birth", "numerous multiple fracture that be present at birth" ] ], "xref": [ "UMLS:C1853171" ], "is_a": [ "HP:0002659" ], "is_obsolete": "", "replace_id": "" }, "HP:0005856": { "name": [ "ulnar radial head dislocation", "ulnar radial head dislocation" ], "alt_id": [], "def": "A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction.", "synonym": [ [ "ulnar dislocation of radial heads", "ulnar dislocation of radial head" ] ], "xref": [ "UMLS:C4021619" ], "is_a": [ "HP:0003083" ], "is_obsolete": "", "replace_id": "" }, "HP:0005857": { "name": [ "cervical spina bifida", "cervical spina bifida" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:32232003", "UMLS:C0266501" ], "is_a": [ "HP:0002414" ], "is_obsolete": "", "replace_id": "" }, "HP:0005863": { "name": [ "type e brachydactyly", "type e brachydactyly" ], "alt_id": [ "HP:0006115" ], "def": "In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals.", "synonym": [], "xref": [ "MSH:C566194", "UMLS:C1862102" ], "is_a": [ "HP:0001156" ], "is_obsolete": "", "replace_id": "" }, "HP:0005864": { "name": [ "pseudoarthrosis", "pseudoarthrosis" ], "alt_id": [], "def": "A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or \\\"false joint\\\").", "synonym": [ [ "pseudoarthroses", "pseudoarthroses" ] ], "xref": [ "MSH:D011542", "SNOMEDCT_US:31511007", "SNOMEDCT_US:410818009", "UMLS:C0033785" ], "is_a": [ "HP:0011314" ], "is_obsolete": "", "replace_id": "" }, "HP:0005866": { "name": [ "opposable triphalangeal thumb", "opposable triphalangeal thumb" ], "alt_id": [], "def": "A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.", "synonym": [], "xref": [ "UMLS:C4025122" ], "is_a": [ "HP:0001199" ], "is_obsolete": "", "replace_id": "" }, "HP:0005867": { "name": [ "4 - 5 metacarpal synostosis", "4 - 5 metacarpal synostosis" ], "alt_id": [], "def": "", "synonym": [ [ "fused 4th - 5th long bones of hand", "fuse 4th - 5th long bone of hand" ], [ "fused 4th - 5th metacarpals", "fuse 4th - 5th metacarpal" ], [ "fused fourth and fifth metacarpals", "fuse fourth and fifth metacarpal" ], [ "ring finger and little finger metacarpal synostosis", "ring finger and little finger metacarpal synostosis" ], [ "synostosis of the fourth and fifth metacarpal bones", "synostosis of the fourth and fifth metacarpal bone" ] ], "xref": [ "UMLS:C1859768" ], "is_a": [ "HP:0009707", "HP:0009708" ], "is_obsolete": "", "replace_id": "" }, "HP:0005868": { "name": [ "metaphyseal enchondromatosis", "metaphyseal enchondromatosis" ], "alt_id": [], "def": "An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.", "synonym": [], "xref": [ "UMLS:C4025121" ], "is_a": [ "HP:0000944" ], "is_obsolete": "", "replace_id": "" }, "HP:0005871": { "name": [ "metaphyseal chondrodysplasia", "metaphyseal chondrodysplasia" ], "alt_id": [ "HP:0006377" ], "def": "An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.", "synonym": [], "xref": [ "SNOMEDCT_US:28681006", "UMLS:C0265290" ], "is_a": [ "HP:0100255" ], "is_obsolete": "", "replace_id": "" }, "HP:0005872": { "name": [ "brachytelomesophalangy", "brachytelomesophalangy" ], "alt_id": [ "HP:0005777", "HP:0006093" ], "def": "Disproportionately short middle and distal phalanges compared to the hand/foot.", "synonym": [ [ "progressive brachydactyly of middle and distal phalanges", "progressive brachydactyly of middle and distal phalanx" ], [ "short middle and distal phalanges of digits ii through v", "short middle and distal phalanx of digit ii through v" ] ], "xref": [ "UMLS:C1847408" ], "is_a": [ "HP:0001156" ], "is_obsolete": "", "replace_id": "" }, "HP:0005873": { "name": [ "polysyndactyly of hallux", "polysyndactyly of hallux" ], "alt_id": [], "def": "Combined syndactyly and polydactyly of the great toe.", "synonym": [ [ "polysyndactyly of big toe", "polysyndactyly of big toe" ], [ "polysyndactyly of great toe", "polysyndactyly of great toe" ] ], "xref": [ "UMLS:C4021618" ], "is_a": [ "HP:0001841" ], "is_obsolete": "", "replace_id": "" }, "HP:0005875": { "name": [ "increased dermatoglyphic whorls", "increase dermatoglyphic whorl" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025120" ], "is_a": [ "HP:0001018" ], "is_obsolete": "", "replace_id": "" }, "HP:0005876": { "name": [ "progressive flexion contractures", "progressive flexion contracture" ], "alt_id": [], "def": "Progressively worsening joint contractures.", "synonym": [ [ "joint contractures , progressive", "joint contracture , progressive" ] ], "xref": [ "UMLS:C3279322" ], "is_a": [ "HP:0001371" ], "is_obsolete": "", "replace_id": "" }, "HP:0005877": { "name": [ "multiple small vertebral fractures", "multiple small vertebral fracture" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025119" ], "is_a": [ "HP:0003468" ], "is_obsolete": "", "replace_id": "" }, "HP:0005878": { "name": [ "enlarged sagittal diameter of the cervical canal", "enlarge sagittal diameter of the cervical canal" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025118" ], "is_a": [ "HP:0003319" ], "is_obsolete": "", "replace_id": "" }, "HP:0005879": { "name": [ "congenital finger flexion contractures", "congenital finger flexion contracture" ], "alt_id": [], "def": "Multiple bent (flexed) finger joints that cannot be straightened actively or passively.", "synonym": [ [ "congenital finger contractures", "congenital finger contracture" ] ], "xref": [ "UMLS:C1393871" ], "is_a": [ "HP:0002803", "HP:0100490" ], "is_obsolete": "", "replace_id": "" }, "HP:0005880": { "name": [ "metacarpophalangeal synostosis", "metacarpophalangeal synostosis" ], "alt_id": [ "HP:0100325" ], "def": "Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.", "synonym": [ [ "fused long bone of hand with innermost finger bone", "fuse long bone of hand with innermost finger bone" ] ], "xref": [ "UMLS:C4025117" ], "is_a": [ "HP:0009700", "HP:0009701", "HP:0011911" ], "is_obsolete": "", "replace_id": "" }, "HP:0005881": { "name": [ "spinal instability", "spinal instability" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:240220009", "UMLS:C0410648" ], "is_a": [ "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0005882": { "name": [ "dermatoglyphic variants", "dermatoglyphic variant" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025116" ], "is_a": [ "HP:0001018" ], "is_obsolete": "", "replace_id": "" }, "HP:0005885": { "name": [ "absent ossification of cervical vertebral bodies", "absent ossification of cervical vertebral body" ], "alt_id": [], "def": "A lack of bone mineralization of one or more body of cervical vertebra.", "synonym": [], "xref": [ "UMLS:C4025115" ], "is_a": [ "HP:0004599" ], "is_obsolete": "", "replace_id": "" }, "HP:0005886": { "name": [ "aphalangy of the hands", "aphalangy of the hand" ], "alt_id": [], "def": "Absence of a digit or of one or more phalanges of a finger.", "synonym": [], "xref": [ "UMLS:C4025114" ], "is_a": [ "HP:0009767" ], "is_obsolete": "", "replace_id": "" }, "HP:0005890": { "name": [ "hyperostosis cranialis interna", "hyperostosis cranialis interna" ], "alt_id": [], "def": "Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull.", "synonym": [ [ "enlargement of the inner surface of the skull bones", "enlargement of the inner surface of the skull bone" ], [ "excessive growth of inner surface of the skull bones", "excessive growth of inner surface of the skull bone" ], [ "hyperostosis of the internal surface of the cranial bone", "hyperostosis of the internal surface of the cranial bone" ], [ "hyperostosis of the internal surface of the cranial bones", "hyperostosis of the internal surface of the cranial bone" ], [ "hypertrophy of the internal surface of the cranial bones", "hypertrophy of the internal surface of the cranial bone" ], [ "increased ossification of the internal surface of the cranial bones", "increase ossification of the internal surface of the cranial bone" ], [ "overgrowth of the inner surface of the skull bones", "overgrowth of the inner surface of the skull bone" ], [ "overgrowth of the inside of the skull", "overgrowth of the inside of the skull" ], [ "thick inner surface of the skull bones", "thick inner surface of the skull bone" ], [ "thick internal surface of the cranial bones", "thick internal surface of the cranial bone" ] ], "xref": [ "MSH:C564168", "UMLS:C1840404", "UMLS:C4280468", "UMLS:C4280469", "UMLS:C4280470", "UMLS:C4280471", "UMLS:C4280472" ], "is_a": [ "HP:0004437" ], "is_obsolete": "", "replace_id": "" }, "HP:0005891": { "name": [ "progressive forearm bowing", "progressive forearm bowing" ], "alt_id": [], "def": "Progressive bending or abnormal curvature of the forearm skeleton.", "synonym": [ [ "progressive forearm curvature", "progressive forearm curvature" ] ], "xref": [ "UMLS:C3152020" ], "is_a": [ "HP:0003956", "HP:0006383" ], "is_obsolete": "", "replace_id": "" }, "HP:0005892": { "name": [ "proximal tibial and fibular fusion", "proximal tibial and fibular fusion" ], "alt_id": [], "def": "", "synonym": [ [ "fusion of innermost shinbone and calf bone", "fusion of innermost shinbone and calf bone" ] ], "xref": [ "UMLS:C4025113" ], "is_a": [ "HP:0005928", "HP:0005929" ], "is_obsolete": "", "replace_id": "" }, "HP:0005894": { "name": [ "double first metacarpals", "double first metacarpal" ], "alt_id": [], "def": "Duplication of the metacarpal I bones.", "synonym": [ [ "double 1st long bones of hand", "double 1st long bone of hand" ] ], "xref": [ "UMLS:C4025112" ], "is_a": [ "HP:0005917" ], "is_obsolete": "", "replace_id": "" }, "HP:0005895": { "name": [ "radial deviation of thumb terminal phalanx", "radial deviation of thumb terminal phalanx" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025111" ], "is_a": [ "HP:0009617" ], "is_obsolete": "", "replace_id": "" }, "HP:0005897": { "name": [ "severe generalized osteoporosis", "severe generalize osteoporosis" ], "alt_id": [ "HP:0005838" ], "def": "Severe degree of osteoporosis.", "synonym": [ [ "severe generalised osteoporosis", "severe generalise osteoporosis" ], [ "severe , generalised osteoporosis", "severe , generalise osteoporosis" ], [ "severe , generalized osteoporosis", "severe , generalize osteoporosis" ] ], "xref": [ "UMLS:C1859443" ], "is_a": [ "HP:0040160" ], "is_obsolete": "", "replace_id": "" }, "HP:0005899": { "name": [ "metaphyseal dysostosis", "metaphyseal dysostosis" ], "alt_id": [], "def": "Abnormal mineralization of the metaphyseal area of bones.", "synonym": [], "xref": [ "SNOMEDCT_US:28681006", "UMLS:C0265290" ], "is_a": [ "HP:0000944" ], "is_obsolete": "", "replace_id": "" }, "HP:0005900": { "name": [ "fifth metacarpal with ulnar notch", "fifth metacarpal with ulnar notch" ], "alt_id": [], "def": "Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger).", "synonym": [ [ "fifth metacarpal notched on ulnar side", "fifth metacarpal notch on ulnar side" ] ], "xref": [ "UMLS:C3276324" ], "is_a": [ "HP:0010013" ], "is_obsolete": "", "replace_id": "" }, "HP:0005901": { "name": [ "obsolete chronic recurrent multifocal osteomyelitis", "obsolete chronic recurrent multifocal osteomyelitis" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0002754" }, "HP:0005905": { "name": [ "abnormal cervical curvature", "abnormal cervical curvature" ], "alt_id": [], "def": "The presence of an abnormal curvature of the cervical vertebral column.", "synonym": [ [ "abnormal neck curve", "abnormal neck curve" ] ], "xref": [ "UMLS:C3151523" ], "is_a": [ "HP:0010674", "HP:0046508" ], "is_obsolete": "", "replace_id": "" }, "HP:0005906": { "name": [ "delayed pneumatization of the mastoid process", "delay pneumatization of the mastoid process" ], "alt_id": [], "def": "An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.", "synonym": [ [ "mastoid processes poorly pneumatized", "mastoid process poorly pneumatized" ] ], "xref": [ "UMLS:C4021617" ], "is_a": [ "HP:0000264" ], "is_obsolete": "", "replace_id": "" }, "HP:0005910": { "name": [ "rhomboid or triangular shaped 5th finger middle phalanx", "rhomboid or triangular shape 5th finger middle phalanx" ], "alt_id": [], "def": "Rhomboid or triangular shaped 5th (little) finger middle phalanx.", "synonym": [ [ "rhomboid or triangular shaped fifth finger middle phalanx", "rhomboid or triangular shape fifth finger middle phalanx" ] ], "xref": [ "UMLS:C4021616" ], "is_a": [ "HP:0009182" ], "is_obsolete": "", "replace_id": "" }, "HP:0005912": { "name": [ "biliary atresia", "biliary atresia" ], "alt_id": [], "def": "Atresia of the biliary tree.", "synonym": [ [ "biliary duct atresia", "biliary duct atresia" ] ], "xref": [ "MSH:D001656", "SNOMEDCT_US:77480004", "SNOMEDCT_US:82821008", "UMLS:C0005411" ], "is_a": [ "HP:0012440" ], "is_obsolete": "", "replace_id": "" }, "HP:0005913": { "name": [ "abnormality of metacarpal epiphyses", "abnormality of metacarpal epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of end part of long bone of hand", "abnormality of end part of long bone of hand" ] ], "xref": [ "UMLS:C4025110" ], "is_a": [ "HP:0001163", "HP:0005924" ], "is_obsolete": "", "replace_id": "" }, "HP:0005914": { "name": [ "aplasia / hypoplasia involving the metacarpal bones", "aplasia / hypoplasia involve the metacarpal bone" ], "alt_id": [ "HP:0006007" ], "def": "Aplasia or Hypoplasia affecting the metacarpal bones.", "synonym": [ [ "absent or hypoplastic metacarpals", "absent or hypoplastic metacarpal" ], [ "absent / small long bones of hand", "absent / small long bone of hand" ], [ "absent / underdeveloped long bones of hand", "absent / underdevelop long bone of hand" ], [ "aplastic / hypoplastic metacarpals", "aplastic / hypoplastic metacarpal" ], [ "hypoplastic metacarpals", "hypoplastic metacarpal" ], [ "hypoplastic / absent metacarpal bones", "hypoplastic / absent metacarpal bone" ], [ "hypoplastic / absent metacarpals", "hypoplastic / absent metacarpal" ], [ "metacarpal aplasia / hypoplasia", "metacarpal aplasia / hypoplasia" ] ], "xref": [ "UMLS:C1836192" ], "is_a": [ "HP:0005916", "HP:0005927" ], "is_obsolete": "", "replace_id": "" }, "HP:0005916": { "name": [ "abnormal metacarpal morphology", "abnormal metacarpal morphology" ], "alt_id": [ "HP:0010556" ], "def": "Irregularly shaped metacarpal bones of varying degree.", "synonym": [ [ "abnormal shape of long bones of hand", "abnormal shape of long bone of hand" ], [ "abnormal shape of metacarpal bones", "abnormal shape of metacarpal bone" ] ], "xref": [ "UMLS:C4021615" ], "is_a": [ "HP:0001163" ], "is_obsolete": "", "replace_id": "" }, "HP:0005917": { "name": [ "supernumerary metacarpal bones", "supernumerary metacarpal bone" ], "alt_id": [], "def": "The presence of more than the normal number of metacarpal bones.", "synonym": [ [ "extra long bones of hand", "extra long bone of hand" ] ], "xref": [ "SNOMEDCT_US:91846008", "UMLS:C0545617" ], "is_a": [ "HP:0001163" ], "is_obsolete": "", "replace_id": "" }, "HP:0005918": { "name": [ "abnormal finger phalanx morphology", "abnormal finger phalanx morphology" ], "alt_id": [ "HP:0005786", "HP:0006259" ], "def": "Abnormalities affecting the phalanx of finger.", "synonym": [ [ "abnormal form of phalanges of the hand", "abnormal form of phalanx of the hand" ], [ "abnormality of phalanx of finger", "abnormality of phalanx of finger" ], [ "abnormality of the finger bones", "abnormality of the finger bone" ], [ "abnormality of the phalanges", "abnormality of the phalanx" ], [ "abnormality of the phalanges of the hand", "abnormality of the phalanx of the hand" ] ], "xref": [ "UMLS:C4021614" ], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0005920": { "name": [ "abnormal epiphysis morphology of the phalanges of the hand", "abnormal epiphysis morphology of the phalanx of the hand" ], "alt_id": [ "HP:0009151" ], "def": "Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).", "synonym": [], "xref": [ "UMLS:C4021613" ], "is_a": [ "HP:0005918", "HP:0005924" ], "is_obsolete": "", "replace_id": "" }, "HP:0005921": { "name": [ "obsolete abnormal ossification of hand bones", "obsolete abnormal ossification of hand bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0010660" }, "HP:0005922": { "name": [ "abnormal hand morphology", "abnormal hand morphology" ], "alt_id": [ "HP:0003098" ], "def": "Any structural anomaly of the hand.", "synonym": [ [ "abnormal shape of hand", "abnormal shape of hand" ] ], "xref": [ "UMLS:C4025109" ], "is_a": [ "HP:0001155" ], "is_obsolete": "", "replace_id": "" }, "HP:0005923": { "name": [ "abnormalities of the metaphyses of the hand", "abnormality of the metaphyses of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the wide portion of the hand bone", "abnormality of the wide portion of the hand bone" ] ], "xref": [ "UMLS:C4025108" ], "is_a": [ "HP:0001155", "HP:0009809" ], "is_obsolete": "", "replace_id": "" }, "HP:0005924": { "name": [ "abnormality of the epiphyses of the hand", "abnormality of the epiphysis of the hand" ], "alt_id": [], "def": "Any abnormality of the epiphyses of the phalanges or metacarpal bones.", "synonym": [ [ "abnormality of the end part of the hand bone", "abnormality of the end part of the hand bone" ], [ "abnormality of the end part of the hand bones", "abnormality of the end part of the hand bone" ], [ "abnormality of the epiphyses of the fingers", "abnormality of the epiphysis of the finger" ], [ "abnormality of the epiphyses of the phalanges of the hand", "abnormality of the epiphysis of the phalanx of the hand" ] ], "xref": [ "UMLS:C4025107" ], "is_a": [ "HP:0001155", "HP:0003839" ], "is_obsolete": "", "replace_id": "" }, "HP:0005925": { "name": [ "abnormalities of the diaphyses of the hand", "abnormality of the diaphysis of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "abnormalities of shaft of long bone of the hand", "abnormality of shaft of long bone of the hand" ] ], "xref": [ "UMLS:C4025106" ], "is_a": [ "HP:0001155", "HP:0009808" ], "is_obsolete": "", "replace_id": "" }, "HP:0005926": { "name": [ "abnormality of hand cortical bone", "abnormality of hand cortical bone" ], "alt_id": [], "def": "An anomaly of the outer shell (cortex) of a hand bone.", "synonym": [ [ "abnormality of the cortex of hand bones", "abnormality of the cortex of hand bone" ] ], "xref": [ "UMLS:C4025105" ], "is_a": [ "HP:0001155", "HP:0003103" ], "is_obsolete": "", "replace_id": "" }, "HP:0005927": { "name": [ "aplasia / hypoplasia involving bones of the hand", "aplasia / hypoplasia involve bone of the hand" ], "alt_id": [], "def": "Absence (due to failure to form) or underdevelopment of the bones of the hand.", "synonym": [ [ "absent / small hand bones", "absent / small hand bone" ], [ "absent / underdeveloped hand bones", "absent / underdeveloped hand bone" ], [ "hypoplasia / absence of hand bones", "hypoplasia / absence of hand bone" ] ], "xref": [ "UMLS:C4021612" ], "is_a": [ "HP:0001155", "HP:0006496" ], "is_obsolete": "", "replace_id": "" }, "HP:0005928": { "name": [ "synostosis involving the fibula", "synostosis involve the fibula" ], "alt_id": [], "def": "", "synonym": [ [ "bone fusion involving the calf bones", "bone fusion involve the calf bone" ] ], "xref": [ "UMLS:C4025104" ], "is_a": [ "HP:0002991", "HP:0009138" ], "is_obsolete": "", "replace_id": "" }, "HP:0005929": { "name": [ "synostosis involving the tibia", "synostosis involve the tibia" ], "alt_id": [], "def": "", "synonym": [ [ "bone fusion involving the shinbone", "bone fusion involve the shinbone" ] ], "xref": [ "UMLS:C4025103" ], "is_a": [ "HP:0002992", "HP:0009138" ], "is_obsolete": "", "replace_id": "" }, "HP:0005930": { "name": [ "abnormality of epiphysis morphology", "abnormality of epiphysis morphology" ], "alt_id": [ "HP:0000936" ], "def": "An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.", "synonym": [ [ "abnormal shape of end part of bone", "abnormal shape of end part of bone" ], [ "abnormality of the epiphyses", "abnormality of the epiphysis" ], [ "anomaly of the epiphyses", "anomaly of the epiphysis" ], [ "epiphyseal abnormality", "epiphyseal abnormality" ] ], "xref": [ "UMLS:C4021611" ], "is_a": [ "HP:0011314" ], "is_obsolete": "", "replace_id": "" }, "HP:0005932": { "name": [ "abnormal renal corticomedullary differentiation", "abnormal renal corticomedullary differentiation" ], "alt_id": [], "def": "An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.", "synonym": [], "xref": [ "UMLS:C4025102" ], "is_a": [ "HP:0011035", "HP:0100957" ], "is_obsolete": "", "replace_id": "" }, "HP:0005934": { "name": [ "imperfect vocal cord adduction", "imperfect vocal cord adduction" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025101" ], "is_a": [ "HP:0031801" ], "is_obsolete": "", "replace_id": "" }, "HP:0005938": { "name": [ "abnormal respiratory motile cilium morphology", "abnormal respiratory motile cilium morphology" ], "alt_id": [], "def": "Abnormal arrangement of the structures of the motile cilium.", "synonym": [], "xref": [ "UMLS:C4025100" ], "is_a": [ "HP:0012253" ], "is_obsolete": "", "replace_id": "" }, "HP:0005939": { "name": [ "multiple bilateral pneumothoraces", "multiple bilateral pneumothoraces" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025099" ], "is_a": [ "HP:0002107" ], "is_obsolete": "", "replace_id": "" }, "HP:0005941": { "name": [ "intermittent hyperpnea at rest", "intermittent hyperpnea at rest" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025098" ], "is_a": [ "HP:0004879" ], "is_obsolete": "", "replace_id": "" }, "HP:0005942": { "name": [ "desquamative interstitial pneumonitis", "desquamative interstitial pneumonitis" ], "alt_id": [], "def": "Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present.", "synonym": [ [ "filling of the alveoli with alveolar macrophages", "filling of the alveolus with alveolar macrophage" ], [ "filling of the alveoli with desquamated epithelial cells", "filling of the alveolus with desquamated epithelial cell" ], [ "intra - alveolar accumulation of macrophages", "intra - alveolar accumulation of macrophage" ] ], "xref": [ "MSH:C562470", "SNOMEDCT_US:8549006", "UMLS:C0238378" ], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0005943": { "name": [ "respiratory arrest", "respiratory arrest" ], "alt_id": [], "def": "", "synonym": [ [ "breathing cessation", "breathe cessation" ] ], "xref": [ "SNOMEDCT_US:87317003", "UMLS:C0162297" ], "is_a": [ "HP:0002093" ], "is_obsolete": "", "replace_id": "" }, "HP:0005944": { "name": [ "bilateral lung agenesis", "bilateral lung agenesis" ], "alt_id": [ "HP:0006550" ], "def": "Bilateral lack of development of the lungs.", "synonym": [ [ "absent lungs", "absent lung" ], [ "bilateral pulmonary agenesis", "bilateral pulmonary agenesis" ] ], "xref": [ "Fyler:4206", "UMLS:C4021610" ], "is_a": [ "HP:0006703" ], "is_obsolete": "", "replace_id": "" }, "HP:0005945": { "name": [ "laryngeal obstruction", "laryngeal obstruction" ], "alt_id": [], "def": "Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress.", "synonym": [], "xref": [ "SNOMEDCT_US:61169001", "UMLS:C0264306" ], "is_a": [ "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0005946": { "name": [ "ventilator dependence with inability to wean", "ventilator dependence with inability to wean" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025097" ], "is_a": [ "HP:0004887" ], "is_obsolete": "", "replace_id": "" }, "HP:0005947": { "name": [ "decreased sensitivity to hypoxemia", "decrease sensitivity to hypoxemia" ], "alt_id": [], "def": "Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.", "synonym": [ [ "decreased sensitivity to hypoxaemia", "decrease sensitivity to hypoxaemia" ], [ "decreased sensitivity to hypoxemia", "decrease sensitivity to hypoxemia" ] ], "xref": [ "UMLS:C3806286" ], "is_a": [ "HP:0005957" ], "is_obsolete": "", "replace_id": "" }, "HP:0005948": { "name": [ "multiple pulmonary cysts", "multiple pulmonary cyst" ], "alt_id": [], "def": "The presence of multiple lung cysts.", "synonym": [ [ "cystic lung disease", "cystic lung disease" ], [ "multiple lung cysts", "multiple lung cyst" ] ], "xref": [ "MSH:C563237", "UMLS:C1384901" ], "is_a": [ "HP:0032445" ], "is_obsolete": "", "replace_id": "" }, "HP:0005949": { "name": [ "apneic episodes in infancy", "apneic episode in infancy" ], "alt_id": [], "def": "Recurrent episodes of apnea occurring during infancy.", "synonym": [], "xref": [ "UMLS:C3807980" ], "is_a": [ "HP:0002104" ], "is_obsolete": "", "replace_id": "" }, "HP:0005950": { "name": [ "laryngeal web", "laryngeal web" ], "alt_id": [], "def": "A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.", "synonym": [ [ "laryngeal webs", "laryngeal web" ], [ "partial laryngeal atresia", "partial laryngeal atresia" ] ], "xref": [ "SNOMEDCT_US:297159008", "UMLS:C0281890" ], "is_a": [ "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0005951": { "name": [ "progressive inspiratory stridor", "progressive inspiratory stridor" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025096" ], "is_a": [ "HP:0005348" ], "is_obsolete": "", "replace_id": "" }, "HP:0005952": { "name": [ "decreased pulmonary function", "decrease pulmonary function" ], "alt_id": [], "def": "", "synonym": [ [ "decreased lung function", "decrease lung function" ], [ "impaired lung function", "impaired lung function" ], [ "impaired pulmonary function", "impaired pulmonary function" ] ], "xref": [ "MSH:D012131", "SNOMEDCT_US:80954004", "UMLS:C0235063" ], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0005954": { "name": [ "pulmonary capillary hemangiomatosis", "pulmonary capillary hemangiomatosis" ], "alt_id": [], "def": "", "synonym": [ [ "pulmonary hemangiomas", "pulmonary hemangioma" ] ], "xref": [ "SNOMEDCT_US:233949008", "UMLS:C0340548" ], "is_a": [ "HP:0004930", "HP:0005306", "HP:0007461" ], "is_obsolete": "", "replace_id": "" }, "HP:0005956": { "name": [ "anteroposteriorly shortened larynx", "anteroposteriorly shorten larynx" ], "alt_id": [], "def": "Abnormal shortening of the larynx in the anteroposterior (front to back) axis.", "synonym": [], "xref": [ "UMLS:C3805994" ], "is_a": [ "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0005957": { "name": [ "breathing dysregulation", "breathe dysregulation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3808046" ], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0005959": { "name": [ "impaired gluconeogenesis", "impaired gluconeogenesis" ], "alt_id": [], "def": "An impairment of gluconeogenesis.", "synonym": [ [ "gluconeogenesis impaired", "gluconeogenesis impair" ] ], "xref": [ "UMLS:C3279336" ], "is_a": [ "HP:0011014" ], "is_obsolete": "", "replace_id": "" }, "HP:0005961": { "name": [ "hypoargininemia", "hypoargininemia" ], "alt_id": [], "def": "A decreased concentration of arginine in the blood.", "synonym": [ [ "arginine deficiency", "arginine deficiency" ], [ "low blood arginine levels", "low blood arginine level" ] ], "xref": [ "UMLS:C1859735", "UMLS:C4025095" ], "is_a": [ "HP:0010909" ], "is_obsolete": "", "replace_id": "" }, "HP:0005964": { "name": [ "intermittent hypothermia", "intermittent hypothermia" ], "alt_id": [ "HP:0005970" ], "def": "Episodes of reduced body termperature.", "synonym": [ [ "intermittent abnormally low body temperature", "intermittent abnormally low body temperature" ], [ "intermittent hypothermia", "intermittent hypothermia" ] ], "xref": [ "UMLS:C1837639" ], "is_a": [ "HP:0002045" ], "is_obsolete": "", "replace_id": "" }, "HP:0005967": { "name": [ "mixed respiratory and metabolic acidosis", "mixed respiratory and metabolic acidosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1840372" ], "is_a": [ "HP:0001942" ], "is_obsolete": "", "replace_id": "" }, "HP:0005968": { "name": [ "temperature instability", "temperature instability" ], "alt_id": [], "def": "Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.", "synonym": [ [ "body temperature instability", "body temperature instability" ], [ "temperature instability", "temperature instability" ] ], "xref": [ "UMLS:C1820737", "UMLS:C3279038" ], "is_a": [ "HP:0004370" ], "is_obsolete": "", "replace_id": "" }, "HP:0005972": { "name": [ "respiratory acidosis", "respiratory acidosis" ], "alt_id": [], "def": "Acidosis because of respiratory retention of carbon dioxide.", "synonym": [], "xref": [ "MSH:D000142", "SNOMEDCT_US:12326000", "UMLS:C0001127" ], "is_a": [ "HP:0001941" ], "is_obsolete": "", "replace_id": "" }, "HP:0005973": { "name": [ "fructose intolerance", "fructose intolerance" ], "alt_id": [], "def": "Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance.", "synonym": [ [ "fructose malabsorption", "fructose malabsorption" ] ], "xref": [ "MSH:D005633", "SNOMEDCT_US:20052008", "UMLS:C0016751" ], "is_a": [ "HP:0011033" ], "is_obsolete": "", "replace_id": "" }, "HP:0005974": { "name": [ "episodic ketoacidosis", "episodic ketoacidosis" ], "alt_id": [ "HP:0005981", "HP:0005983" ], "def": "Intermittent episodes of ketoacidosis.", "synonym": [ [ "ketoacidosis , episodic", "ketoacidosis , episodic" ] ], "xref": [ "UMLS:C1859860" ], "is_a": [ "HP:0001993" ], "is_obsolete": "", "replace_id": "" }, "HP:0005976": { "name": [ "hyperkalemic metabolic acidosis", "hyperkalemic metabolic acidosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1865880" ], "is_a": [ "HP:0001942" ], "is_obsolete": "", "replace_id": "" }, "HP:0005977": { "name": [ "hypochloremic metabolic alkalosis", "hypochloremic metabolic alkalosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C0740895" ], "is_a": [ "HP:0001948" ], "is_obsolete": "", "replace_id": "" }, "HP:0005978": { "name": [ "type ii diabetes mellitus", "type ii diabetes mellitus" ], "alt_id": [ "HP:0005965", "HP:0100652" ], "def": "A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.", "synonym": [ [ "diabetes mellitus type 2", "diabetes mellitus type 2" ], [ "diabetes mellitus type ii", "diabetes mellitus type ii" ], [ "diabetes mellitus , noninsulin - dependent", "diabetes mellitus , noninsulin - dependent" ], [ "niddm diabetes mellitus", "niddm diabetes mellitus" ], [ "non - insulin dependent diabetes", "non - insulin dependent diabetes" ], [ "noninsulin dependent diabetes mellitus", "noninsulin dependent diabetes mellitus" ], [ "noninsulin - dependent diabetes", "noninsulin - dependent diabetes" ], [ "noninsulin - dependent diabetes mellitus", "noninsulin - dependent diabetes mellitus" ], [ "type 2 diabetes", "type 2 diabetes" ], [ "type ii diabetes", "type ii diabetes" ] ], "xref": [ "MSH:D003924", "SNOMEDCT_US:44054006", "UMLS:C0011860" ], "is_a": [ "HP:0000819" ], "is_obsolete": "", "replace_id": "" }, "HP:0005979": { "name": [ "metabolic ketoacidosis", "metabolic ketoacidosis" ], "alt_id": [ "HP:0005971" ], "def": "A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.", "synonym": [ [ "starvation ketoacidosis", "starvation ketoacidosis" ] ], "xref": [ "MSH:D007662", "UMLS:C1854704" ], "is_a": [ "HP:0001942", "HP:0001993" ], "is_obsolete": "", "replace_id": "" }, "HP:0005982": { "name": [ "reduced phenylalanine hydroxylase level", "reduce phenylalanine hydroxylase level" ], "alt_id": [], "def": "A reduction in phenylalanine 4-monooxygenase level.", "synonym": [ [ "phenylalanine hydroxylase deficiency", "phenylalanine hydroxylase deficiency" ] ], "xref": [ "MSH:D010661", "SNOMEDCT_US:7573000", "UMLS:C0751434", "UMLS:C4025094" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0005984": { "name": [ "elevated maternal serum alpha - fetoprotein", "elevate maternal serum alpha - fetoprotein" ], "alt_id": [], "def": "An elevation of alpha-feto protein in the maternal serum.", "synonym": [], "xref": [ "UMLS:C0740927" ], "is_a": [ "HP:0006254" ], "is_obsolete": "", "replace_id": "" }, "HP:0005986": { "name": [ "limitation of neck motion", "limitation of neck motion" ], "alt_id": [], "def": "", "synonym": [ [ "limitation of neck motion", "limitation of neck motion" ], [ "limited neck mobility", "limited neck mobility" ], [ "restricted neck movement", "restrict neck movement" ] ], "xref": [ "MSH:D009127", "SNOMEDCT_US:161882006", "SNOMEDCT_US:405947006", "UMLS:C0151315", "UMLS:C1320474", "UMLS:C1847392" ], "is_a": [ "HP:0000464" ], "is_obsolete": "", "replace_id": "" }, "HP:0005987": { "name": [ "multinodular goiter", "multinodular goiter" ], "alt_id": [], "def": "Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.", "synonym": [ [ "multinodular goitre", "multinodular goitre" ] ], "xref": [ "SNOMEDCT_US:237570007", "UMLS:C0342208" ], "is_a": [ "HP:0005994" ], "is_obsolete": "", "replace_id": "" }, "HP:0005988": { "name": [ "congenital muscular torticollis", "congenital muscular torticollis" ], "alt_id": [], "def": "A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending.", "synonym": [ [ "torticollis , congenital", "torticollis , congenital" ] ], "xref": [ "MSH:C535425", "SNOMEDCT_US:268240006", "UMLS:C0079352" ], "is_a": [ "HP:0011006" ], "is_obsolete": "", "replace_id": "" }, "HP:0005989": { "name": [ "redundant neck skin", "redundant neck skin" ], "alt_id": [ "HP:0005993", "HP:0005996" ], "def": "Excess skin around the neck, often lying in horizontal folds.", "synonym": [ [ "excess neck skin", "excess neck skin" ], [ "excess skin over the neck", "excess skin over the neck" ], [ "excessive nuchal skin", "excessive nuchal skin" ], [ "redundant neck skin", "redundant neck skin" ], [ "redundant nuchal skin", "redundant nuchal skin" ], [ "redundant skin folds of neck", "redundant skin fold of neck" ], [ "redundant skin over the neck", "redundant skin over the neck" ] ], "xref": [ "UMLS:C1840319" ], "is_a": [ "HP:0000464", "HP:0001582" ], "is_obsolete": "", "replace_id": "" }, "HP:0005990": { "name": [ "thyroid hypoplasia", "thyroid hypoplasia" ], "alt_id": [], "def": "Developmental hypoplasia of the thyroid gland.", "synonym": [ [ "hypoplastic thyroid", "hypoplastic thyroid" ], [ "small thyroid gland", "small thyroid gland" ] ], "xref": [ "MSH:D050033", "SNOMEDCT_US:367524008", "UMLS:C0151516" ], "is_a": [ "HP:0033079" ], "is_obsolete": "", "replace_id": "" }, "HP:0005991": { "name": [ "limited neck flexion", "limited neck flexion" ], "alt_id": [], "def": "Reduced abilty to lower the chin towards the chest by bending the neck.", "synonym": [ [ "limited cervical flexion", "limited cervical flexion" ], [ "limited neck flexibility", "limited neck flexibility" ] ], "xref": [ "UMLS:C1864449" ], "is_a": [ "HP:0005986" ], "is_obsolete": "", "replace_id": "" }, "HP:0005994": { "name": [ "nodular goiter", "nodular goiter" ], "alt_id": [], "def": "Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.", "synonym": [ [ "nodular goitre", "nodular goitre" ] ], "xref": [ "MSH:D006044", "SNOMEDCT_US:419153005", "UMLS:C0018023" ], "is_a": [ "HP:0000853" ], "is_obsolete": "", "replace_id": "" }, "HP:0005995": { "name": [ "decreased adipose tissue around neck", "decrease adipose tissue around neck" ], "alt_id": [], "def": "Reduced amount of adipose tissue in the region of the neck.", "synonym": [ [ "loss of adipose tissue around the neck", "loss of adipose tissue around the neck" ], [ "loss of fat around neck", "loss of fat around neck" ] ], "xref": [ "UMLS:C1837763" ], "is_a": [ "HP:0003758" ], "is_obsolete": "", "replace_id": "" }, "HP:0005997": { "name": [ "restricted neck movement due to contractures", "restrict neck movement due to contracture" ], "alt_id": [], "def": "", "synonym": [ [ "neck flexion contracture", "neck flexion contracture" ], [ "restricted neck mobility due to contractures", "restrict neck mobility due to contracture" ], [ "restricted neck movement due to contractures", "restrict neck movement due to contracture" ] ], "xref": [ "UMLS:C1867006" ], "is_a": [ "HP:0001371", "HP:0005986" ], "is_obsolete": "", "replace_id": "" }, "HP:0005999": { "name": [ "ureteral atresia", "ureteral atresia" ], "alt_id": [], "def": "A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.", "synonym": [], "xref": [ "SNOMEDCT_US:204974003", "SNOMEDCT_US:49534003", "UMLS:C0266320" ], "is_a": [ "HP:0025633" ], "is_obsolete": "", "replace_id": "" }, "HP:0006000": { "name": [ "ureteral obstruction", "ureteral obstruction" ], "alt_id": [], "def": "Obstruction of the flow of urine through the ureter.", "synonym": [], "xref": [ "Fyler:4492", "MSH:D014517", "SNOMEDCT_US:20018005", "UMLS:C0041956" ], "is_a": [ "HP:0025634" ], "is_obsolete": "", "replace_id": "" }, "HP:0006006": { "name": [ "hypotrophy of the small hand muscles", "hypotrophy of the small hand muscle" ], "alt_id": [], "def": "", "synonym": [ [ "degeneration of small hand muscles", "degeneration of small hand muscle" ] ], "xref": [ "UMLS:C1843228" ], "is_a": [ "HP:0001421" ], "is_obsolete": "", "replace_id": "" }, "HP:0006008": { "name": [ "unilateral brachydactyly", "unilateral brachydactyly" ], "alt_id": [], "def": "", "synonym": [ [ "short digits on one side", "short digit on one side" ] ], "xref": [ "UMLS:C1868164", "UMLS:C4280467" ], "is_a": [ "HP:0001156" ], "is_obsolete": "", "replace_id": "" }, "HP:0006009": { "name": [ "broad phalanx", "broad phalanx" ], "alt_id": [ "HP:0006030", "HP:0006249" ], "def": "Increased side-to-side width of one or more phalanges of the fingers or toes.", "synonym": [ [ "broad phalanges", "broad phalanx" ], [ "wide digital bones", "wide digital bone" ], [ "wide phalanges", "wide phalanx" ], [ "widened phalanges", "widen phalanx" ] ], "xref": [ "UMLS:C1855185" ], "is_a": [ "HP:0005622", "HP:0011297" ], "is_obsolete": "", "replace_id": "" }, "HP:0006011": { "name": [ "cuboidal metacarpal", "cuboidal metacarpal" ], "alt_id": [], "def": "Severely shortened metacarpal with a cuboidal appearance.", "synonym": [ [ "short , cube shaped long bone of hand", "short , cube shape long bone of hand" ] ], "xref": [ "UMLS:C4025093" ], "is_a": [ "HP:0010049" ], "is_obsolete": "", "replace_id": "" }, "HP:0006012": { "name": [ "widened metacarpal shaft", "widen metacarpal shaft" ], "alt_id": [], "def": "", "synonym": [ [ "broad shaft of long bone of hand", "broad shaft of long bone of hand" ] ], "xref": [ "UMLS:C1850159" ], "is_a": [ "HP:0005916" ], "is_obsolete": "", "replace_id": "" }, "HP:0006014": { "name": [ "abnormally shaped carpal bones", "abnormally shape carpal bone" ], "alt_id": [], "def": "", "synonym": [ [ "abnormally shaped wrist bones", "abnormally shaped wrist bone" ] ], "xref": [ "UMLS:C1860111" ], "is_a": [ "HP:0001191" ], "is_obsolete": "", "replace_id": "" }, "HP:0006016": { "name": [ "delayed phalangeal epiphyseal ossification", "delay phalangeal epiphyseal ossification" ], "alt_id": [], "def": "Delay in the process of formation and maturation of the epiphysis of one or more phalanx.", "synonym": [ [ "delayed bone maturation of end part of digital bone", "delay bone maturation of end part of digital bone" ], [ "delayed phalangeal epiphyseal bone maturation", "delay phalangeal epiphyseal bone maturation" ] ], "xref": [ "UMLS:C4021609" ], "is_a": [ "HP:0002663" ], "is_obsolete": "", "replace_id": "" }, "HP:0006019": { "name": [ "reduced proximal interphalangeal joint space", "reduce proximal interphalangeal joint space" ], "alt_id": [], "def": "", "synonym": [ [ "decreased space in hinge joint", "decreased space in hinge joint" ] ], "xref": [ "UMLS:C1861396" ], "is_a": [ "HP:0006261" ], "is_obsolete": "", "replace_id": "" }, "HP:0006026": { "name": [ "rounded epiphyses", "round epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "rounded end part of bone", "rounded end part of bone" ] ], "xref": [ "UMLS:C1850632" ], "is_a": [ "HP:0005924" ], "is_obsolete": "", "replace_id": "" }, "HP:0006028": { "name": [ "metaphyseal cupping of metacarpals", "metaphyseal cupping of metacarpal" ], "alt_id": [ "HP:0006131" ], "def": "Metaphyseal cupping affecting the metacarpal bones.", "synonym": [ [ "cupping of wide portion of long bone of hand", "cupping of wide portion of long bone of hand" ], [ "metacarpal / metaphyseal cupping", "metacarpal / metaphyseal cup" ] ], "xref": [ "UMLS:C1855171" ], "is_a": [ "HP:0003021" ], "is_obsolete": "", "replace_id": "" }, "HP:0006035": { "name": [ "cone - shaped epiphyses of phalanges 2 to 5", "cone - shaped epiphysis of phalanx 2 to 5" ], "alt_id": [], "def": "", "synonym": [ [ "cone - shaped end part of digital bones 2 to 5", "cone - shaped end part of digital bone 2 to 5" ] ], "xref": [ "UMLS:C1857005" ], "is_a": [ "HP:0010230" ], "is_obsolete": "", "replace_id": "" }, "HP:0006040": { "name": [ "long second metacarpal", "long second metacarpal" ], "alt_id": [], "def": "", "synonym": [ [ "long 2nd long bone of hand", "long 2nd long bone of hand" ] ], "xref": [ "UMLS:C1861531" ], "is_a": [ "HP:0010036" ], "is_obsolete": "", "replace_id": "" }, "HP:0006042": { "name": [ "y - shaped metacarpals", "y - shape metacarpal" ], "alt_id": [], "def": "Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.", "synonym": [ [ "y - shaped long bone of hand", "y - shape long bone of hand" ] ], "xref": [ "UMLS:C1861373" ], "is_a": [ "HP:0005916" ], "is_obsolete": "", "replace_id": "" }, "HP:0006045": { "name": [ "short pointed phalanges", "short point phalanx" ], "alt_id": [], "def": "", "synonym": [ [ "short pointed digital bones", "short point digital bone" ] ], "xref": [ "UMLS:C1849740" ], "is_a": [ "HP:0009803" ], "is_obsolete": "", "replace_id": "" }, "HP:0006048": { "name": [ "distal widening of metacarpals", "distal widening of metacarpal" ], "alt_id": [], "def": "Abnormal increase in width of the distal region of the metacarpal bones.", "synonym": [ [ "wide outermost end of long bone", "wide outermost end of long bone" ] ], "xref": [ "UMLS:C1865254" ], "is_a": [ "HP:0005916" ], "is_obsolete": "", "replace_id": "" }, "HP:0006051": { "name": [ "metacarpal periosteal thickening", "metacarpal periosteal thicken" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1834347" ], "is_a": [ "HP:0001163", "HP:0030313" ], "is_obsolete": "", "replace_id": "" }, "HP:0006055": { "name": [ "ulnar deviated club hands", "ulnar deviate club hand" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1833881" ], "is_a": [ "HP:0009487" ], "is_obsolete": "", "replace_id": "" }, "HP:0006059": { "name": [ "cone - shaped metacarpal epiphyses", "cone - shape metacarpal epiphysis" ], "alt_id": [], "def": "A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.", "synonym": [ [ "cone - shaped end part of long bone", "cone - shaped end part of long bone" ], [ "metacarpal cone - shaped epiphyses", "metacarpal cone - shaped epiphysis" ] ], "xref": [ "UMLS:C1855239" ], "is_a": [ "HP:0005913", "HP:0010579" ], "is_obsolete": "", "replace_id": "" }, "HP:0006060": { "name": [ "tombstone - shaped proximal phalanges", "tombstone - shape proximal phalanx" ], "alt_id": [], "def": "", "synonym": [ [ "tombstone - shaped innermost digital bones", "tombstone - shape innermost digital bone" ] ], "xref": [ "UMLS:C1862420" ], "is_a": [ "HP:0009834" ], "is_obsolete": "", "replace_id": "" }, "HP:0006064": { "name": [ "limited interphalangeal movement", "limited interphalangeal movement" ], "alt_id": [], "def": "", "synonym": [ [ "limited movement of hinge joints", "limited movement of hinge joint" ] ], "xref": [ "UMLS:C1840089" ], "is_a": [ "HP:0001376", "HP:0006261" ], "is_obsolete": "", "replace_id": "" }, "HP:0006067": { "name": [ "multiple carpal ossification centers", "multiple carpal ossification center" ], "alt_id": [], "def": "A delay in the process of formation and maturation of the epiphysis of one or more long bones.", "synonym": [ [ "multiple carpal ossification centres", "multiple carpal ossification centre" ] ], "xref": [ "UMLS:C1835573" ], "is_a": [ "HP:0006257" ], "is_obsolete": "", "replace_id": "" }, "HP:0006069": { "name": [ "severe carpal ossification delay", "severe carpal ossification delay" ], "alt_id": [], "def": "", "synonym": [ [ "severe delay in maturation of wrist bone", "severe delay in maturation of wrist bone" ] ], "xref": [ "UMLS:C1866703", "UMLS:C4280466" ], "is_a": [ "HP:0001216" ], "is_obsolete": "", "replace_id": "" }, "HP:0006070": { "name": [ "metacarpophalangeal joint contracture", "metacarpophalangeal joint contracture" ], "alt_id": [ "HP:0005674" ], "def": "A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.", "synonym": [ [ "metacarpal / phalangeal joint contractures", "metacarpal / phalangeal joint contracture" ] ], "xref": [ "UMLS:C2677209" ], "is_a": [ "HP:0011911" ], "is_obsolete": "", "replace_id": "" }, "HP:0006077": { "name": [ "absent proximal finger flexion creases", "absent proximal finger flexion crease" ], "alt_id": [], "def": "Absence of the proximal interphalangeal flexion creases of the fingers.", "synonym": [], "xref": [ "UMLS:C1850048" ], "is_a": [ "HP:0006109" ], "is_obsolete": "", "replace_id": "" }, "HP:0006086": { "name": [ "thin metacarpal cortices", "thin metacarpal cortex" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850160" ], "is_a": [ "HP:0005916" ], "is_obsolete": "", "replace_id": "" }, "HP:0006088": { "name": [ "1 - 5 finger complete cutaneous syndactyly", "1 - 5 finger complete cutaneous syndactyly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1861357" ], "is_a": [ "HP:0010554" ], "is_obsolete": "", "replace_id": "" }, "HP:0006089": { "name": [ "palmar hyperhidrosis", "palmar hyperhidrosis" ], "alt_id": [], "def": "", "synonym": [ [ "excessive sweating of hands", "excessive sweating of hand" ] ], "xref": [ "UMLS:C1856953" ], "is_a": [ "HP:0000975", "HP:0040211" ], "is_obsolete": "", "replace_id": "" }, "HP:0006092": { "name": [ "malaligned carpal bone", "malaligned carpal bone" ], "alt_id": [], "def": "Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).", "synonym": [ [ "incorrect alignment of wrist bone", "incorrect alignment of wrist bone" ] ], "xref": [ "UMLS:C1856742" ], "is_a": [ "HP:0001191" ], "is_obsolete": "", "replace_id": "" }, "HP:0006094": { "name": [ "finger joint hypermobility", "finger joint hypermobility" ], "alt_id": [], "def": "", "synonym": [ [ "increased mobility in finger joint", "increase mobility in finger joint" ] ], "xref": [ "SNOMEDCT_US:298193009", "UMLS:C0574974" ], "is_a": [ "HP:0001167", "HP:0001382", "HP:0006256" ], "is_obsolete": "", "replace_id": "" }, "HP:0006095": { "name": [ "wide tufts of distal phalanges", "wide tuft of distal phalanx" ], "alt_id": [], "def": "", "synonym": [ [ "wide tips of outermost digital bone", "wide tip of outermost digital bone" ] ], "xref": [ "UMLS:C1835101" ], "is_a": [ "HP:0006200" ], "is_obsolete": "", "replace_id": "" }, "HP:0006097": { "name": [ "3 - 4 finger syndactyly", "3 - 4 finger syndactyly" ], "alt_id": [ "HP:0006133" ], "def": "Syndactyly with fusion of fingers three and four.", "synonym": [ [ "partial or complete syndactyly 3rd - 4th fingers", "partial or complete syndactyly 3rd - 4th finger" ], [ "webbed 3rd - 4th finger", "web 3rd - 4th finger" ], [ "webbed 3rd - 4th fingers", "web 3rd - 4th finger" ] ], "xref": [ "UMLS:C1856889" ], "is_a": [ "HP:0006101" ], "is_obsolete": "", "replace_id": "" }, "HP:0006099": { "name": [ "metacarpophalangeal joint hyperextensibility", "metacarpophalangeal joint hyperextensibility" ], "alt_id": [], "def": "Increased mobility of one ore more metacarpophalangeal joint.", "synonym": [], "xref": [ "UMLS:C4025092" ], "is_a": [ "HP:0011911" ], "is_obsolete": "", "replace_id": "" }, "HP:0006101": { "name": [ "finger syndactyly", "finger syndactyly" ], "alt_id": [ "HP:0006057" ], "def": "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\", "synonym": [ [ "partial syndactyly", "partial syndactyly" ] ], "xref": [ "SNOMEDCT_US:249769001", "SNOMEDCT_US:268251006", "SNOMEDCT_US:34048007", "UMLS:C0221352" ], "is_a": [ "HP:0001159" ], "is_obsolete": "", "replace_id": "" }, "HP:0006106": { "name": [ "absent trapezoid bone", "absent trapezoid bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1847191" ], "is_a": [ "HP:0004256" ], "is_obsolete": "", "replace_id": "" }, "HP:0006107": { "name": [ "fingerpad telangiectases", "fingerpad telangiectases" ], "alt_id": [ "HP:0006246" ], "def": "Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.", "synonym": [ [ "finger pad telangiectases", "finger pad telangiectases" ], [ "small dilated blood vessels in fingerpads", "small dilate blood vessel in fingerpads" ] ], "xref": [ "UMLS:C1861248" ], "is_a": [ "HP:0100585" ], "is_obsolete": "", "replace_id": "" }, "HP:0006108": { "name": [ "tapered metacarpals", "taper metacarpal" ], "alt_id": [], "def": "Metacarpal that becomes thinner toward the distal end.", "synonym": [ [ "tapered long bones of hand", "taper long bone of hand" ] ], "xref": [ "UMLS:C4025091" ], "is_a": [ "HP:0005916" ], "is_obsolete": "", "replace_id": "" }, "HP:0006109": { "name": [ "absent phalangeal crease", "absent phalangeal crease" ], "alt_id": [ "HP:0006031" ], "def": "Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).", "synonym": [ [ "absent interphalangeal creases", "absent interphalangeal crease" ], [ "aplasia of the interphalangeal creases", "aplasia of the interphalangeal crease" ] ], "xref": [ "UMLS:C1862479", "UMLS:C4020821" ], "is_a": [ "HP:0006143" ], "is_obsolete": "", "replace_id": "" }, "HP:0006110": { "name": [ "shortening of all middle phalanges of the fingers", "shortening of all middle phalanx of the finger" ], "alt_id": [], "def": "Short, hypoplastic middle phalanx of finger, affecting all fingers.", "synonym": [], "xref": [ "UMLS:C1856912" ], "is_a": [ "HP:0005819" ], "is_obsolete": "", "replace_id": "" }, "HP:0006112": { "name": [ "expanded phalanges with widened medullary cavities", "expand phalanx with widened medullary cavity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1969287" ], "is_a": [ "HP:0009768" ], "is_obsolete": "", "replace_id": "" }, "HP:0006114": { "name": [ "multiple palmar creases", "multiple palmar crease" ], "alt_id": [], "def": "The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease).", "synonym": [ [ "multiple palm lines", "multiple palm line" ] ], "xref": [ "UMLS:C1861872" ], "is_a": [ "HP:0010490" ], "is_obsolete": "", "replace_id": "" }, "HP:0006118": { "name": [ "shortening of all distal phalanges of the fingers", "shortening of all distal phalanx of the finger" ], "alt_id": [ "HP:0005658" ], "def": "Hypoplasia of all of the distal phalanx of finger.", "synonym": [ [ "brachytelephalangy", "brachytelephalangy" ], [ "shortening of all outermost bones of the fingers", "shortening of all outermost bone of the finger" ] ], "xref": [ "UMLS:C4021608" ], "is_a": [ "HP:0009882" ], "is_obsolete": "", "replace_id": "" }, "HP:0006119": { "name": [ "proximal tapering of metacarpals", "proximal tapering of metacarpal" ], "alt_id": [], "def": "Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.", "synonym": [ [ "pointed innermost long bone of hand", "point innermost long bone of hand" ], [ "pointed proximal metacarpals", "point proximal metacarpal" ] ], "xref": [ "UMLS:C1854749" ], "is_a": [ "HP:0005916" ], "is_obsolete": "", "replace_id": "" }, "HP:0006121": { "name": [ "acral ulceration", "acral ulceration" ], "alt_id": [ "HP:0001226", "HP:0001862", "HP:0005040" ], "def": "A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.", "synonym": [], "xref": [ "UMLS:C1860099" ], "is_a": [ "HP:0007460", "HP:0031917" ], "is_obsolete": "", "replace_id": "" }, "HP:0006127": { "name": [ "long proximal phalanx of finger", "long proximal phalanx of finger" ], "alt_id": [], "def": "Increased length of the proximal phalanx of finger.", "synonym": [ [ "long innermost finger bone", "long innermost finger bone" ] ], "xref": [ "UMLS:C4025090" ], "is_a": [ "HP:0006155", "HP:0009834" ], "is_obsolete": "", "replace_id": "" }, "HP:0006129": { "name": [ "drumstick terminal phalanges", "drumstick terminal phalanx" ], "alt_id": [], "def": "Rounding and broadening of the tufts of the distal phalanges.", "synonym": [ [ "drumstick shaped digital bones", "drumstick shape digital bone" ] ], "xref": [ "UMLS:C1844822" ], "is_a": [ "HP:0009832" ], "is_obsolete": "", "replace_id": "" }, "HP:0006134": { "name": [ "enlarged metacarpal epiphyses", "enlarge metacarpal epiphysis" ], "alt_id": [], "def": "Abnormally large size of the metaphyseal epiphyses.", "synonym": [ [ "enlarged end part of long bone of hand", "enlarged end part of long bone of hand" ] ], "xref": [ "UMLS:C1865035" ], "is_a": [ "HP:0005913", "HP:0010580" ], "is_obsolete": "", "replace_id": "" }, "HP:0006135": { "name": [ "decreased finger mobility", "decrease finger mobility" ], "alt_id": [], "def": "", "synonym": [ [ "decreased finger mobility", "decrease finger mobility" ], [ "decreased finger movement", "decrease finger movement" ] ], "xref": [ "UMLS:C1862133" ], "is_a": [ "HP:0001155" ], "is_obsolete": "", "replace_id": "" }, "HP:0006136": { "name": [ "bilateral postaxial polydactyly", "bilateral postaxial polydactyly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1855003" ], "is_a": [ "HP:0001162" ], "is_obsolete": "", "replace_id": "" }, "HP:0006140": { "name": [ "premature fusion of phalangeal epiphyses", "premature fusion of phalangeal epiphysis" ], "alt_id": [], "def": "Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.", "synonym": [ [ "premature fusion of end part of digital bone", "premature fusion of end part of digital bone" ] ], "xref": [ "UMLS:C1855620" ], "is_a": [ "HP:0005920", "HP:0010656" ], "is_obsolete": "", "replace_id": "" }, "HP:0006143": { "name": [ "abnormal finger flexion creases", "abnormal finger flexion crease" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1859481" ], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0006144": { "name": [ "shortening of all proximal phalanges of the fingers", "shortening of all proximal phalanx of the finger" ], "alt_id": [ "HP:0006021" ], "def": "Congenital hypoplasia of proximal phalanx of finger or all fingers.", "synonym": [ [ "shortening of all innermost bones of the fingers", "shortening of all innermost bone of the finger" ] ], "xref": [ "UMLS:C4025089" ], "is_a": [ "HP:0010241" ], "is_obsolete": "", "replace_id": "" }, "HP:0006145": { "name": [ "central y - shaped metacarpal", "central y - shape metacarpal" ], "alt_id": [], "def": "A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal.", "synonym": [ [ "y - shaped central long bones of hand", "y - shaped central long bone of hand" ] ], "xref": [ "UMLS:C1848597" ], "is_a": [ "HP:0006042" ], "is_obsolete": "", "replace_id": "" }, "HP:0006146": { "name": [ "broad metacarpal epiphyses", "broad metacarpal epiphysis" ], "alt_id": [], "def": "Increased side-to-side width of the metacarpal epiphyses.", "synonym": [ [ "broad end part of long bone of hand", "broad end part of long bone of hand" ] ], "xref": [ "UMLS:C4025088" ], "is_a": [ "HP:0005913" ], "is_obsolete": "", "replace_id": "" }, "HP:0006147": { "name": [ "progressive fusion 2nd - 5th pip joints", "progressive fusion 2nd - 5th pip joint" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1861310" ], "is_a": [ "HP:0009773" ], "is_obsolete": "", "replace_id": "" }, "HP:0006149": { "name": [ "increased laxity of fingers", "increase laxity of finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850855" ], "is_a": [ "HP:0006094" ], "is_obsolete": "", "replace_id": "" }, "HP:0006150": { "name": [ "swan neck - like deformities of the fingers", "swan neck - like deformity of the finger" ], "alt_id": [], "def": "A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.", "synonym": [], "xref": [ "UMLS:C1849152" ], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0006152": { "name": [ "proximal symphalangism of hands", "proximal symphalangism of hand" ], "alt_id": [ "HP:0006005" ], "def": "The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.", "synonym": [ [ "fused innermost hinge joints", "fuse innermost hinge joint" ], [ "proximal interphalangeal joint synostoses", "proximal interphalangeal joint synostoses" ] ], "xref": [ "UMLS:C4021607" ], "is_a": [ "HP:0009700", "HP:0009773", "HP:0100264" ], "is_obsolete": "", "replace_id": "" }, "HP:0006153": { "name": [ "disharmonious carpal bone", "disharmonious carpal bone" ], "alt_id": [], "def": "", "synonym": [ [ "disharmonious wrist bone", "disharmonious wrist bone" ] ], "xref": [ "UMLS:C2675549" ], "is_a": [ "HP:0006014" ], "is_obsolete": "", "replace_id": "" }, "HP:0006155": { "name": [ "long phalanx of finger", "long phalanx of finger" ], "alt_id": [], "def": "Increased length of multiple or a single phalanx of finger.", "synonym": [ [ "long finger bone", "long finger bone" ] ], "xref": [ "UMLS:C4025087" ], "is_a": [ "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0006156": { "name": [ "ulnar deviation of thumb", "ulnar deviation of thumb" ], "alt_id": [], "def": "Bending or curvature of a thumb towards the ulnar side (towards the ring finger).", "synonym": [ [ "curved thumb deviated towards palm", "curve thumb deviate towards palm" ], [ "ulnar deviation of the 1st finger", "ulnar deviation of the 1st finger" ] ], "xref": [ "SNOMEDCT_US:299137000", "UMLS:C0575904", "UMLS:C4280465" ], "is_a": [ "HP:0009465" ], "is_obsolete": "", "replace_id": "" }, "HP:0006157": { "name": [ "prominent palmar flexion creases", "prominent palmar flexion crease" ], "alt_id": [], "def": "", "synonym": [ [ "prominent life line", "prominent life line" ] ], "xref": [ "UMLS:C1865131", "UMLS:C4280464" ], "is_a": [ "HP:0010490" ], "is_obsolete": "", "replace_id": "" }, "HP:0006158": { "name": [ "obsolete finger joint hyperextensibility", "obsolete finger joint hyperextensibility" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0006159": { "name": [ "mesoaxial hand polydactyly", "mesoaxial hand polydactyly" ], "alt_id": [ "HP:0001496", "HP:0004056" ], "def": "The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.", "synonym": [ [ "central hand polydactyly", "central hand polydactyly" ], [ "interdigital finger polydactyly", "interdigital finger polydactyly" ] ], "xref": [ "UMLS:C4021606" ], "is_a": [ "HP:0001161", "HP:0100260" ], "is_obsolete": "", "replace_id": "" }, "HP:0006160": { "name": [ "irregular metacarpals", "irregular metacarpal" ], "alt_id": [], "def": "Irregular morphology of one or more metacarpal bones.", "synonym": [ [ "irregular long bones of hand", "irregular long bone of hand" ] ], "xref": [ "UMLS:C4025086" ], "is_a": [ "HP:0005916" ], "is_obsolete": "", "replace_id": "" }, "HP:0006161": { "name": [ "short metacarpals with rounded proximal ends", "short metacarpal with rounded proximal end" ], "alt_id": [], "def": "", "synonym": [ [ "short long bone of hand with rounded innermost ends", "short long bone of hand with rounded innermost end" ] ], "xref": [ "UMLS:C1856471" ], "is_a": [ "HP:0010049" ], "is_obsolete": "", "replace_id": "" }, "HP:0006162": { "name": [ "soft tissue swelling of interphalangeal joints", "soft tissue swelling of interphalangeal joint" ], "alt_id": [], "def": "", "synonym": [ [ "soft tissue swelling of hinge joints", "soft tissue swelling of hinge joint" ] ], "xref": [ "UMLS:C1854913" ], "is_a": [ "HP:0006261" ], "is_obsolete": "", "replace_id": "" }, "HP:0006163": { "name": [ "enlarged metacarpophalangeal joints", "enlarge metacarpophalangeal joint" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1859700" ], "is_a": [ "HP:0006261" ], "is_obsolete": "", "replace_id": "" }, "HP:0006165": { "name": [ "proportionate shortening of all digits", "proportionate shortening of all digit" ], "alt_id": [], "def": "", "synonym": [ [ "proportionate shortening of all digits", "proportionate shortening of all digit" ] ], "xref": [ "UMLS:C1862157" ], "is_a": [ "HP:0006265" ], "is_obsolete": "", "replace_id": "" }, "HP:0006166": { "name": [ "tubular metacarpal bones", "tubular metacarpal bone" ], "alt_id": [], "def": "", "synonym": [ [ "cylindrical shaped long bones of hand", "cylindrical shape long bone of hand" ] ], "xref": [ "UMLS:C1859369" ], "is_a": [ "HP:0005916" ], "is_obsolete": "", "replace_id": "" }, "HP:0006167": { "name": [ "prominent proximal interphalangeal joints", "prominent proximal interphalangeal joint" ], "alt_id": [], "def": "", "synonym": [ [ "prominent innermost hinge joints", "prominent innermost hinge joint" ] ], "xref": [ "UMLS:C4025085" ], "is_a": [ "HP:0006237" ], "is_obsolete": "", "replace_id": "" }, "HP:0006169": { "name": [ "decreased mobility 3rd - 5th fingers", "decrease mobility 3rd - 5th finger" ], "alt_id": [], "def": "", "synonym": [ [ "decreased mobility 3rd - 5th fingers", "decrease mobility 3rd - 5th finger" ] ], "xref": [ "UMLS:C1833882" ], "is_a": [ "HP:0006135" ], "is_obsolete": "", "replace_id": "" }, "HP:0006170": { "name": [ "chess - pawn distal phalanges", "chess - pawn distal phalanx" ], "alt_id": [], "def": "A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.", "synonym": [ [ "chess - pawn shaped outermost bone", "chess - pawn shape outermost bone" ] ], "xref": [ "UMLS:C1862097" ], "is_a": [ "HP:0009832" ], "is_obsolete": "", "replace_id": "" }, "HP:0006172": { "name": [ "flattened , squared - off epiphyses of tubular bones", "flatten , square - off epiphysis of tubular bone" ], "alt_id": [], "def": "", "synonym": [ [ "flattened , squared - off end part of tubular bones", "flatten , square - off end part of tubular bone" ] ], "xref": [ "UMLS:C1834961" ], "is_a": [ "HP:0003053", "HP:0003071" ], "is_obsolete": "", "replace_id": "" }, "HP:0006174": { "name": [ "metacarpal diaphyseal endosteal sclerosis", "metacarpal diaphyseal endosteal sclerosis" ], "alt_id": [], "def": "Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.", "synonym": [], "xref": [ "UMLS:C1840419" ], "is_a": [ "HP:0005916", "HP:0011001" ], "is_obsolete": "", "replace_id": "" }, "HP:0006175": { "name": [ "proximal phalangeal periosteal thickening", "proximal phalangeal periosteal thicken" ], "alt_id": [], "def": "", "synonym": [ [ "thickening of connective tissue of innermost finger bone", "thickening of connective tissue of innermost finger bone" ] ], "xref": [ "UMLS:C1834348", "UMLS:C4280463" ], "is_a": [ "HP:0009834", "HP:0030313" ], "is_obsolete": "", "replace_id": "" }, "HP:0006176": { "name": [ "two carpal ossification centers present at birth", "two carpal ossification center present at birth" ], "alt_id": [], "def": "", "synonym": [ [ "two carpal ossification centres present at birth", "two carpal ossification centre present at birth" ] ], "xref": [ "UMLS:C1839285" ], "is_a": [ "HP:0006257" ], "is_obsolete": "", "replace_id": "" }, "HP:0006179": { "name": [ "pseudoepiphyses of second metacarpal", "pseudoepiphyses of second metacarpal" ], "alt_id": [ "HP:0010221" ], "def": "", "synonym": [ [ "extra bone on end of second long bone of hand", "extra bone on end of second long bone of hand" ], [ "pseudoepiphysis of the 2nd metacarpal", "pseudoepiphysis of the 2nd metacarpal" ] ], "xref": [ "UMLS:C1862693" ], "is_a": [ "HP:0009193", "HP:0010220" ], "is_obsolete": "", "replace_id": "" }, "HP:0006180": { "name": [ "crowded carpal bones", "crowd carpal bone" ], "alt_id": [], "def": "", "synonym": [ [ "crowded wrist bones", "crowd wrist bone" ] ], "xref": [ "UMLS:C1863317" ], "is_a": [ "HP:0001191" ], "is_obsolete": "", "replace_id": "" }, "HP:0006184": { "name": [ "decreased palmar creases", "decrease palmar crease" ], "alt_id": [ "HP:0006178" ], "def": "Poorly defined or shallow palmar creases.", "synonym": [ [ "hypoplastic palmar creases", "hypoplastic palmar crease" ], [ "poorly formed palmar creases", "poorly form palmar crease" ], [ "shallow palm line", "shallow palm line" ], [ "shallow palmar creases", "shallow palmar crease" ] ], "xref": [ "UMLS:C1857483" ], "is_a": [ "HP:0010488" ], "is_obsolete": "", "replace_id": "" }, "HP:0006185": { "name": [ "enlarged proximal interphalangeal joints", "enlarge proximal interphalangeal joint" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged innermost hinge joint", "enlarge innermost hinge joint" ] ], "xref": [ "UMLS:C1861350" ], "is_a": [ "HP:0006247" ], "is_obsolete": "", "replace_id": "" }, "HP:0006187": { "name": [ "fusion of midphalangeal joints", "fusion of midphalangeal joint" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1861332" ], "is_a": [ "HP:0009773" ], "is_obsolete": "", "replace_id": "" }, "HP:0006189": { "name": [ "prominent interdigital folds", "prominent interdigital fold" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1866000" ], "is_a": [ "HP:0001018" ], "is_obsolete": "", "replace_id": "" }, "HP:0006190": { "name": [ "radially deviated wrists", "radially deviate wrist" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1861316" ], "is_a": [ "HP:0009486" ], "is_obsolete": "", "replace_id": "" }, "HP:0006191": { "name": [ "deep palmar crease", "deep palmar crease" ], "alt_id": [], "def": "Excessively deep creases of the palm.", "synonym": [ [ "deep palm line", "deep palm line" ], [ "deep palmar creases", "deep palmar crease" ] ], "xref": [ "UMLS:C1857539" ], "is_a": [ "HP:0010490" ], "is_obsolete": "", "replace_id": "" }, "HP:0006192": { "name": [ "tapered phalanx of finger", "tapered phalanx of finger" ], "alt_id": [], "def": "Phalanges of the fingers becoming thinner toward the distal end.", "synonym": [ [ "tapered finger bone", "taper finger bone" ] ], "xref": [ "UMLS:C4025084" ], "is_a": [ "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0006193": { "name": [ "thimble - shaped middle phalanges of hand", "thimble - shape middle phalanx of hand" ], "alt_id": [], "def": "The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat.", "synonym": [ [ "thimble - shaped middle bones of hand", "thimble - shape middle bone of hand" ] ], "xref": [ "UMLS:C4025083" ], "is_a": [ "HP:0009833" ], "is_obsolete": "", "replace_id": "" }, "HP:0006200": { "name": [ "widened distal phalanges", "widen distal phalanx" ], "alt_id": [], "def": "", "synonym": [ [ "widened outermost bone of limb", "widen outermost bone of limb" ] ], "xref": [ "UMLS:C1862421" ], "is_a": [ "HP:0006009" ], "is_obsolete": "", "replace_id": "" }, "HP:0006201": { "name": [ "hypermobility of distal interphalangeal joints", "hypermobility of distal interphalangeal joint" ], "alt_id": [], "def": "", "synonym": [ [ "increased mobility of outermost hinge joint", "increase mobility of outermost hinge joint" ] ], "xref": [ "UMLS:C1851811" ], "is_a": [ "HP:0005620" ], "is_obsolete": "", "replace_id": "" }, "HP:0006202": { "name": [ "osteolysis of scaphoids", "osteolysis of scaphoids" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025082" ], "is_a": [ "HP:0004243", "HP:0009699" ], "is_obsolete": "", "replace_id": "" }, "HP:0006203": { "name": [ "decreased movement range in interphalangeal joints", "decrease movement range in interphalangeal joint" ], "alt_id": [], "def": "", "synonym": [ [ "decreased range of movement range in hinge joints", "decreased range of movement range in hinge joint" ] ], "xref": [ "UMLS:C1836772" ], "is_a": [ "HP:0001376", "HP:0006135" ], "is_obsolete": "", "replace_id": "" }, "HP:0006205": { "name": [ "irregular phalanges", "irregular phalanx" ], "alt_id": [], "def": "Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.", "synonym": [ [ "irregular finger bones", "irregular finger bone" ] ], "xref": [ "UMLS:C4025081" ], "is_a": [ "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0006206": { "name": [ "hypersegmentation of proximal phalanx of second finger", "hypersegmentation of proximal phalanx of second finger" ], "alt_id": [], "def": "Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.", "synonym": [], "xref": [ "UMLS:C4025080" ], "is_a": [ "HP:0009544" ], "is_obsolete": "", "replace_id": "" }, "HP:0006207": { "name": [ "partial fusion of carpals", "partial fusion of carpal" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1844519" ], "is_a": [ "HP:0009702" ], "is_obsolete": "", "replace_id": "" }, "HP:0006208": { "name": [ "metaphyseal cupping of proximal phalanges", "metaphyseal cupping of proximal phalanx" ], "alt_id": [], "def": "Metaphyseal cupping affecting the proximal phalanges.", "synonym": [], "xref": [ "UMLS:C1834980" ], "is_a": [ "HP:0003021" ], "is_obsolete": "", "replace_id": "" }, "HP:0006209": { "name": [ "partial - complete absence of 5th phalanges", "partial - complete absence of 5th phalanx" ], "alt_id": [], "def": "", "synonym": [ [ "partial - complete absence of 5th digital bone", "partial - complete absence of 5th digital bone" ] ], "xref": [ "UMLS:C1867928" ], "is_a": [ "HP:0006262" ], "is_obsolete": "", "replace_id": "" }, "HP:0006210": { "name": [ "postaxial oligodactyly", "postaxial oligodactyly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1867927" ], "is_a": [ "HP:0001180" ], "is_obsolete": "", "replace_id": "" }, "HP:0006213": { "name": [ "thin proximal phalanges with broad epiphyses of the hand", "thin proximal phalanx with broad epiphysis of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "thin innermost bone with broad end part of the hand bone", "thin innermost bone with broad end part of the hand bone" ], [ "thin proximal phalanges with broad epiphyses", "thin proximal phalanx with broad epiphysis" ] ], "xref": [ "UMLS:C1862156", "UMLS:C4025079" ], "is_a": [ "HP:0005920", "HP:0009834" ], "is_obsolete": "", "replace_id": "" }, "HP:0006216": { "name": [ "single interphalangeal crease of fifth finger", "single interphalangeal crease of fifth finger" ], "alt_id": [ "HP:0006245" ], "def": "Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.", "synonym": [ [ "fifth finger single interphalangeal crease", "fifth finger single interphalangeal crease" ] ], "xref": [ "UMLS:C1850336" ], "is_a": [ "HP:0006109" ], "is_obsolete": "", "replace_id": "" }, "HP:0006217": { "name": [ "limited mobility of proximal interphalangeal joint", "limited mobility of proximal interphalangeal joint" ], "alt_id": [], "def": "", "synonym": [ [ "limited mobility of innermost hinge joint", "limited mobility of innermost hinge joint" ] ], "xref": [ "UMLS:C1857288" ], "is_a": [ "HP:0006261" ], "is_obsolete": "", "replace_id": "" }, "HP:0006224": { "name": [ "tapering pointed ends of distal finger phalanges", "taper point end of distal finger phalanx" ], "alt_id": [], "def": "A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms).", "synonym": [], "xref": [ "UMLS:C4025078" ], "is_a": [ "HP:0009884" ], "is_obsolete": "", "replace_id": "" }, "HP:0006226": { "name": [ "osteoarthritis of the first carpometacarpal joint", "osteoarthritis of the first carpometacarpal joint" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:37895003", "UMLS:C0409956" ], "is_a": [ "HP:0004268" ], "is_obsolete": "", "replace_id": "" }, "HP:0006228": { "name": [ "valgus hand deformity", "valgus hand deformity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1860179" ], "is_a": [ "HP:0005922" ], "is_obsolete": "", "replace_id": "" }, "HP:0006230": { "name": [ "unilateral oligodactyly", "unilateral oligodactyly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3805861" ], "is_a": [ "HP:0001180" ], "is_obsolete": "", "replace_id": "" }, "HP:0006232": { "name": [ "expanded metacarpals with widened medullary cavities", "expand metacarpal with widened medullary cavity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1969288" ], "is_a": [ "HP:0005916" ], "is_obsolete": "", "replace_id": "" }, "HP:0006233": { "name": [ "osteoarthritis of the distal interphalangeal joint", "osteoarthritis of the distal interphalangeal joint" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:239869009", "UMLS:C0409957" ], "is_a": [ "HP:0004268" ], "is_obsolete": "", "replace_id": "" }, "HP:0006234": { "name": [ "osteolysis involving tarsal bones", "osteolysis involve tarsal bone" ], "alt_id": [ "HP:0001858" ], "def": "An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.", "synonym": [ [ "tarsal bone osteolysis", "tarsal bone osteolysis" ], [ "tarsal osteolysis", "tarsal osteolysis" ] ], "xref": [ "UMLS:C1833735" ], "is_a": [ "HP:0001850", "HP:0009134" ], "is_obsolete": "", "replace_id": "" }, "HP:0006236": { "name": [ "slender metacarpals", "slender metacarpal" ], "alt_id": [], "def": "Decreased width of the metacarpal bones (that is, reduced diameter).", "synonym": [ [ "slender long bones of hand", "slender long bone of hand" ] ], "xref": [ "UMLS:C4025077" ], "is_a": [ "HP:0005916" ], "is_obsolete": "", "replace_id": "" }, "HP:0006237": { "name": [ "prominent interphalangeal joints", "prominent interphalangeal joint" ], "alt_id": [], "def": "", "synonym": [ [ "prominent hinge joints", "prominent hinge joint" ] ], "xref": [ "UMLS:C1859115" ], "is_a": [ "HP:0006261" ], "is_obsolete": "", "replace_id": "" }, "HP:0006239": { "name": [ "shortening of all middle phalanges of the toes", "shortening of all middle phalanx of the toe" ], "alt_id": [], "def": "Abnormal shortening of all middle phalanges of toes.", "synonym": [ [ "brachymesophalangy of feet", "brachymesophalangy of foot" ], [ "shortening of all the middle bones of the toes", "shortening of all the middle bone of the toe" ] ], "xref": [ "UMLS:C4021605" ], "is_a": [ "HP:0003795" ], "is_obsolete": "", "replace_id": "" }, "HP:0006243": { "name": [ "phalangeal dislocation", "phalangeal dislocation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C2673396" ], "is_a": [ "HP:0001373", "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0006247": { "name": [ "enlarged interphalangeal joints", "enlarge interphalangeal joint" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged hinge joints", "enlarged hinge joint" ] ], "xref": [ "UMLS:C1859701" ], "is_a": [ "HP:0003037", "HP:0006261" ], "is_obsolete": "", "replace_id": "" }, "HP:0006248": { "name": [ "limited wrist movement", "limited wrist movement" ], "alt_id": [], "def": "An abnormal limitation of the mobility of the wrist.", "synonym": [ [ "limited movement of the wrist", "limited movement of the wrist" ], [ "limited wrist movement", "limited wrist movement" ] ], "xref": [ "UMLS:C1840088" ], "is_a": [ "HP:0001376", "HP:0003019" ], "is_obsolete": "", "replace_id": "" }, "HP:0006251": { "name": [ "limited wrist extension", "limited wrist extension" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1862481" ], "is_a": [ "HP:0006248" ], "is_obsolete": "", "replace_id": "" }, "HP:0006252": { "name": [ "interphalangeal joint erosions", "interphalangeal joint erosion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850158" ], "is_a": [ "HP:0006261" ], "is_obsolete": "", "replace_id": "" }, "HP:0006253": { "name": [ "swelling of proximal interphalangeal joints", "swell of proximal interphalangeal joint" ], "alt_id": [], "def": "", "synonym": [ [ "swelling of innermost hinge joints", "swell of innermost hinge joint" ] ], "xref": [ "UMLS:C1860841" ], "is_a": [ "HP:0006261" ], "is_obsolete": "", "replace_id": "" }, "HP:0006254": { "name": [ "elevated alpha - fetoprotein", "elevate alpha - fetoprotein" ], "alt_id": [], "def": "An increased concentration of alpha-fetoprotein.", "synonym": [ [ "alpha fetoprotein abnormal", "alpha fetoprotein abnormal" ], [ "increased levels of alpha fetoprotein", "increased level of alpha fetoprotein" ], [ "increased serum alpha - fetoprotein", "increase serum alpha - fetoprotein" ], [ "serum alpha - fetoprotein increased", "serum alpha - fetoprotein increase" ] ], "xref": [ "UMLS:C0235971", "UMLS:C0476489" ], "is_a": [ "HP:0045056" ], "is_obsolete": "", "replace_id": "" }, "HP:0006256": { "name": [ "abnormality of hand joint mobility", "abnormality of hand joint mobility" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of hand joint mobility", "abnormality of hand joint mobility" ] ], "xref": [ "UMLS:C4025076" ], "is_a": [ "HP:0001155", "HP:0011729" ], "is_obsolete": "", "replace_id": "" }, "HP:0006257": { "name": [ "abnormality of carpal bone ossification", "abnormality of carpal bone ossification" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal ankle bone maturation", "abnormal ankle bone maturation" ] ], "xref": [ "UMLS:C4025075" ], "is_a": [ "HP:0001191", "HP:0010660" ], "is_obsolete": "", "replace_id": "" }, "HP:0006261": { "name": [ "abnormal phalangeal joint morphology of the hand", "abnormal phalangeal joint morphology of the hand" ], "alt_id": [ "HP:0004266" ], "def": "", "synonym": [ [ "abnormality of phalangeal joints of the hand", "abnormality of phalangeal joint of the hand" ], [ "abnormality of the small joints of the hand", "abnormality of the small joint of the hand" ] ], "xref": [ "UMLS:C4021604" ], "is_a": [ "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0006262": { "name": [ "aplasia / hypoplasia of the 5th finger", "aplasia / hypoplasia of the 5th finger" ], "alt_id": [], "def": "A small/hypoplastic or absent/aplastic 5th finger.", "synonym": [ [ "absent / small little finger", "absent / small little finger" ], [ "absent / small pinkie finger", "absent / small pinkie finger" ], [ "absent / small pinky finger", "absent / small pinky finger" ], [ "absent / underdeveloped little finger", "absent / underdevelop little finger" ], [ "absent / underdeveloped pinkie finger", "absent / underdevelop pinkie finger" ], [ "absent / underdeveloped pinky finger", "absent / underdevelop pinky finger" ] ], "xref": [ "UMLS:C4025074" ], "is_a": [ "HP:0004207", "HP:0006265" ], "is_obsolete": "", "replace_id": "" }, "HP:0006263": { "name": [ "abnormality of the epiphyses of the 2nd finger", "abnormality of the epiphysis of the 2nd finger" ], "alt_id": [], "def": "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger.", "synonym": [ [ "abnormality of the end part of the index finger bone", "abnormality of the end part of the index finger bone" ] ], "xref": [ "UMLS:C4025073" ], "is_a": [ "HP:0004100", "HP:0005920" ], "is_obsolete": "", "replace_id": "" }, "HP:0006264": { "name": [ "aplasia / hypoplasia of the 2nd finger", "aplasia / hypoplasia of the 2nd finger" ], "alt_id": [], "def": "A small/hypoplastic or absent/aplastic 2nd finger.", "synonym": [ [ "absent / small index finger", "absent / small index finger" ], [ "absent / underdeveloped index finger", "absent / underdevelop index finger" ] ], "xref": [ "UMLS:C4025072" ], "is_a": [ "HP:0004100", "HP:0006265" ], "is_obsolete": "", "replace_id": "" }, "HP:0006265": { "name": [ "aplasia / hypoplasia of fingers", "aplasia / hypoplasia of finger" ], "alt_id": [], "def": "Small/hypoplastic or absent/aplastic fingers.", "synonym": [ [ "absent / small fingers", "absent / small finger" ], [ "absent / underdeveloped fingers", "absent / underdevelop finger" ] ], "xref": [ "UMLS:C4025071" ], "is_a": [ "HP:0001167", "HP:0005927" ], "is_obsolete": "", "replace_id": "" }, "HP:0006266": { "name": [ "small placenta", "small placenta" ], "alt_id": [], "def": "Reduced size of the placenta.", "synonym": [ [ "small placenta", "small placenta" ] ], "xref": [ "SNOMEDCT_US:289264006", "UMLS:C0566694" ], "is_a": [ "HP:0012767" ], "is_obsolete": "", "replace_id": "" }, "HP:0006267": { "name": [ "large placenta", "large placenta" ], "alt_id": [], "def": "Increased size of the placenta.", "synonym": [ [ "large placenta", "large placenta" ], [ "placental enlargement", "placental enlargement" ] ], "xref": [ "SNOMEDCT_US:289263000", "UMLS:C0566693" ], "is_a": [ "HP:0012767" ], "is_obsolete": "", "replace_id": "" }, "HP:0006268": { "name": [ "fluctuating splenomegaly", "fluctuate splenomegaly" ], "alt_id": [], "def": "Intermittently increased size of the spleen.", "synonym": [], "xref": [ "UMLS:C1835882" ], "is_a": [ "HP:0001744" ], "is_obsolete": "", "replace_id": "" }, "HP:0006270": { "name": [ "hypoplastic spleen", "hypoplastic spleen" ], "alt_id": [], "def": "Underdevelopment of the spleen.", "synonym": [ [ "underdeveloped spleen", "underdeveloped spleen" ] ], "xref": [ "UMLS:C1970617" ], "is_a": [ "HP:0010451" ], "is_obsolete": "", "replace_id": "" }, "HP:0006273": { "name": [ "pancreatic lymphangiectasis", "pancreatic lymphangiectasis" ], "alt_id": [], "def": "The presence of lymphangiectasis in the pancreas.", "synonym": [], "xref": [ "UMLS:C1856162" ], "is_a": [ "HP:0012090", "HP:0031842" ], "is_obsolete": "", "replace_id": "" }, "HP:0006274": { "name": [ "reduced pancreatic beta cells", "reduce pancreatic beta cell" ], "alt_id": [], "def": "Reduced number of beta cells in the pancreatic islets of Langerhans.", "synonym": [], "xref": [ "UMLS:C1856904" ], "is_a": [ "HP:0006476" ], "is_obsolete": "", "replace_id": "" }, "HP:0006276": { "name": [ "hyperechogenic pancreas", "hyperechogenic pancreas" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1857945" ], "is_a": [ "HP:0012090" ], "is_obsolete": "", "replace_id": "" }, "HP:0006277": { "name": [ "pancreatic hyperplasia", "pancreatic hyperplasia" ], "alt_id": [], "def": "Hyperplasia of the pancreas.", "synonym": [], "xref": [ "UMLS:C1851733" ], "is_a": [ "HP:0012094" ], "is_obsolete": "", "replace_id": "" }, "HP:0006278": { "name": [ "ectopic pancreatic tissue", "ectopic pancreatic tissue" ], "alt_id": [], "def": "The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut.", "synonym": [ [ "abnormal pancreas location", "abnormal pancreas location" ] ], "xref": [ "SNOMEDCT_US:264304000", "UMLS:C0994638" ], "is_a": [ "HP:0012090" ], "is_obsolete": "", "replace_id": "" }, "HP:0006279": { "name": [ "beta - cell dysfunction", "beta - cell dysfunction" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1969875" ], "is_a": [ "HP:0006476" ], "is_obsolete": "", "replace_id": "" }, "HP:0006280": { "name": [ "chronic pancreatitis", "chronic pancreatitis" ], "alt_id": [], "def": "A chronic form of pancreatitis.", "synonym": [ [ "chronic pancreas inflammation", "chronic pancreas inflammation" ] ], "xref": [ "MSH:D050500", "SNOMEDCT_US:233870001", "SNOMEDCT_US:234689009", "SNOMEDCT_US:235494005", "UMLS:C0149521" ], "is_a": [ "HP:0001733" ], "is_obsolete": "", "replace_id": "" }, "HP:0006282": { "name": [ "generalized hypoplasia of dental enamel", "generalize hypoplasia of dental enamel" ], "alt_id": [], "def": "A generalized form of developmental hypoplasia of the dental enamel.", "synonym": [ [ "generalised dysplasia of tooth enamel", "generalised dysplasia of tooth enamel" ], [ "generalised hypoplasia of dental enamel", "generalised hypoplasia of dental enamel" ], [ "generalised hypoplasia of tooth enamel", "generalised hypoplasia of tooth enamel" ], [ "generalized dysplasia of tooth enamel", "generalize dysplasia of tooth enamel" ], [ "generalized hypoplasia of tooth enamel", "generalize hypoplasia of tooth enamel" ] ], "xref": [ "UMLS:C4025070", "UMLS:C4280462" ], "is_a": [ "HP:0006297" ], "is_obsolete": "", "replace_id": "" }, "HP:0006283": { "name": [ "multiple unerupted teeth", "multiple unerupted teeth" ], "alt_id": [], "def": "The presence of multiple embedded tooth germs which have failed to erupt.", "synonym": [ [ "failure of eruption of multiple teeth", "failure of eruption of multiple teeth" ], [ "multiple non - erupting teeth", "multiple non - erupt teeth" ], [ "multiple unerupted teeth", "multiple unerupted teeth" ] ], "xref": [ "UMLS:C4025069" ], "is_a": [ "HP:0000706" ], "is_obsolete": "", "replace_id": "" }, "HP:0006285": { "name": [ "enamel hypomineralization", "enamel hypomineralization" ], "alt_id": [ "HP:0006359" ], "def": "A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.", "synonym": [ [ "decreased enamel mineralisation", "decrease enamel mineralisation" ], [ "fluorosis of tooth enamel", "fluorosis of tooth enamel" ], [ "hypomineralization of enamel", "hypomineralization of enamel" ], [ "increased porosity of tooth enamel", "increase porosity of tooth enamel" ], [ "mottled tooth enamel", "mottle tooth enamel" ], [ "poorly mineralized tooth enamel", "poorly mineralize tooth enamel" ], [ "white spot lesions of tooth enamel", "white spot lesion of tooth enamel" ] ], "xref": [ "SNOMEDCT_US:109487003", "UMLS:C3665628", "UMLS:C4280253", "UMLS:C4280460", "UMLS:C4280461" ], "is_a": [ "HP:0000682" ], "is_obsolete": "", "replace_id": "" }, "HP:0006286": { "name": [ "yellow - brown discoloration of the teeth", "yellow - brown discoloration of the teeth" ], "alt_id": [], "def": "", "synonym": [ [ "yellow - brown discoloration of the teeth", "yellow - brown discoloration of the teeth" ], [ "yellow - brown discolored teeth", "yellow - brown discolor teeth" ], [ "yellow - brown discoloured teeth", "yellow - brown discolour teeth" ], [ "yellow - brown tooth shade", "yellow - brown tooth shade" ] ], "xref": [ "UMLS:C1863008" ], "is_a": [ "HP:0011073" ], "is_obsolete": "", "replace_id": "" }, "HP:0006288": { "name": [ "advanced eruption of teeth", "advanced eruption of teeth" ], "alt_id": [ "HP:0006317" ], "def": "Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.", "synonym": [ [ "advanced dental eruption", "advanced dental eruption" ], [ "advanced tooth eruption", "advanced tooth eruption" ], [ "early dental eruption", "early dental eruption" ], [ "early eruption of teeth", "early eruption of teeth" ], [ "eruption , advanced", "eruption , advance" ], [ "premature dental eruption", "premature dental eruption" ], [ "premature eruption of teeth", "premature eruption of teeth" ], [ "premature tooth eruption", "premature tooth eruption" ] ], "xref": [ "SNOMEDCT_US:16000003", "UMLS:C0266054" ], "is_a": [ "HP:0006292" ], "is_obsolete": "", "replace_id": "" }, "HP:0006289": { "name": [ "agenesis of central incisor", "agenesis of central incisor" ], "alt_id": [ "HP:0006320" ], "def": "Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor.", "synonym": [ [ "absent central incisor", "absent central incisor" ], [ "absent central incisors", "absent central incisor" ], [ "failure of development of central incisor", "failure of development of central incisor" ], [ "missing central incisors", "miss central incisor" ] ], "xref": [ "UMLS:C1855000", "UMLS:C4020819" ], "is_a": [ "HP:0006485" ], "is_obsolete": "", "replace_id": "" }, "HP:0006290": { "name": [ "discolored lateral incisors", "discolored lateral incisor" ], "alt_id": [], "def": "The presence of discolored lateral incisors.", "synonym": [ [ "abnormality of color of front teeth", "abnormality of color of front teeth" ], [ "abnormality of color of lateral incisor", "abnormality of color of lateral incisor" ], [ "abnormality of colour of front teeth", "abnormality of colour of front teeth" ], [ "abnormality of colour of lateral incisor", "abnormality of colour of lateral incisor" ], [ "abnormality of shade of lateral incisor", "abnormality of shade of lateral incisor" ], [ "discolored front teeth", "discolor front teeth" ], [ "discoloured front teeth", "discolour front teeth" ], [ "discoloured lateral incisors", "discoloured lateral incisor" ] ], "xref": [ "UMLS:C1866510", "UMLS:C4280459" ], "is_a": [ "HP:0011063" ], "is_obsolete": "", "replace_id": "" }, "HP:0006291": { "name": [ "marked delay in eruption of permanent teeth", "mark delay in eruption of permanent teeth" ], "alt_id": [], "def": "", "synonym": [ [ "severe delay of eruption of adult teeth", "severe delay of eruption of adult teeth" ], [ "severe delay of eruption of permanent teeth", "severe delay of eruption of permanent teeth" ], [ "very late eruption of adult teeth", "very late eruption of adult teeth" ], [ "very late eruption of permanent teeth", "very late eruption of permanent teeth" ] ], "xref": [ "UMLS:C1863009" ], "is_a": [ "HP:0000696" ], "is_obsolete": "", "replace_id": "" }, "HP:0006292": { "name": [ "abnormality of dental eruption", "abnormality of dental eruption" ], "alt_id": [], "def": "An abnormality of tooth eruption.", "synonym": [ [ "abnormal dental eruption", "abnormal dental eruption" ], [ "abnormality of tooth eruption", "abnormality of tooth eruption" ], [ "anomaly of dental eruption", "anomaly of dental eruption" ], [ "anomaly of tooth eruption", "anomaly of tooth eruption" ], [ "disorder of dental eruption", "disorder of dental eruption" ], [ "disorder of tooth eruption", "disorder of tooth eruption" ], [ "disturbance of dental eruption", "disturbance of dental eruption" ], [ "disturbance of tooth eruption", "disturbance of tooth eruption" ] ], "xref": [ "SNOMEDCT_US:1086101000119107", "SNOMEDCT_US:234949000", "UMLS:C0012767", "UMLS:C1859363", "UMLS:C3874458" ], "is_a": [ "HP:0000164" ], "is_obsolete": "", "replace_id": "" }, "HP:0006293": { "name": [ "agenesis of maxillary central incisor", "agenesis of maxillary central incisor" ], "alt_id": [], "def": "Agenesis of upper secondary incisor or of upper central primary incisor.", "synonym": [ [ "absence of maxillary central incisor", "absence of maxillary central incisor" ], [ "failure of development of maxillary central incisor", "failure of development of maxillary central incisor" ], [ "missing maxillary central incisor", "miss maxillary central incisor" ], [ "missing upper central incisor", "miss upper central incisor" ] ], "xref": [ "UMLS:C4025068", "UMLS:C4280458" ], "is_a": [ "HP:0006289", "HP:0200160" ], "is_obsolete": "", "replace_id": "" }, "HP:0006297": { "name": [ "enamel hypoplasia", "enamel hypoplasia" ], "alt_id": [ "HP:0000671", "HP:0001565", "HP:0003770" ], "def": "Developmental hypoplasia of the dental enamel.", "synonym": [ [ "defective enamel matrix", "defective enamel matrix" ], [ "dental enamel hypoplasia", "dental enamel hypoplasia" ], [ "dysplasia of tooth enamel", "dysplasia of tooth enamel" ], [ "enamel dysplasia", "enamel dysplasia" ], [ "enamel hypoplasia", "enamel hypoplasia" ], [ "enamel hypotrophy", "enamel hypotrophy" ], [ "enamel , underdeveloped", "enamel , underdevelop" ], [ "hypoplasia of dental enamel", "hypoplasia of dental enamel" ], [ "hypoplasia of tooth enamel", "hypoplasia of tooth enamel" ], [ "thin dental enamel", "thin dental enamel" ], [ "thin tooth enamel", "thin tooth enamel" ], [ "underdeveloped teeth enamel", "underdeveloped teeth enamel" ] ], "xref": [ "MSH:D003744", "SNOMEDCT_US:26597004", "SNOMEDCT_US:699382004", "SNOMEDCT_US:699421005", "UMLS:C0011351", "UMLS:C1851854", "UMLS:C4280456", "UMLS:C4280457" ], "is_a": [ "HP:0000682", "HP:0000685" ], "is_obsolete": "", "replace_id": "" }, "HP:0006298": { "name": [ "prolonged bleeding after dental extraction", "prolong bleeding after dental extraction" ], "alt_id": [], "def": "Prolonged bleeding post dental extraction sufficient to require medical intervention.", "synonym": [ [ "prolonged bleeding after dental extraction", "prolong bleeding after dental extraction" ] ], "xref": [ "UMLS:C1969572" ], "is_a": [ "HP:0011890" ], "is_obsolete": "", "replace_id": "" }, "HP:0006302": { "name": [ "dagger - shaped pulp calcifications", "dagger - shaped pulp calcification" ], "alt_id": [], "def": "Dagger-shaped calcifications in the dental pulp.", "synonym": [ [ "dagger shaped pulp denticles", "dagger shape pulp denticle" ], [ "dagger shaped pulp stones", "dagger shape pulp stone" ] ], "xref": [ "UMLS:C4025067" ], "is_a": [ "HP:0003771" ], "is_obsolete": "", "replace_id": "" }, "HP:0006304": { "name": [ "widely - spaced incisors", "widely - space incisor" ], "alt_id": [], "def": "", "synonym": [ [ "anterior diastema of teeth", "anterior diastema of teeth" ], [ "diastema between front teeth", "diastema between front teeth" ], [ "diastema between incisors", "diastema between incisor" ], [ "gap between front teeth", "gap between front teeth" ], [ "widely spaced front teeth", "widely space front teeth" ] ], "xref": [ "SNOMEDCT_US:196409003", "UMLS:C0399545" ], "is_a": [ "HP:0000699", "HP:0040159" ], "is_obsolete": "", "replace_id": "" }, "HP:0006308": { "name": [ "atrophy of alveolar ridges", "atrophy of alveolar ridge" ], "alt_id": [], "def": "", "synonym": [ [ "alveolar bone loss", "alveolar bone loss" ], [ "atrophy of alveolar margins", "atrophy of alveolar margin" ], [ "atrophy of alveolar processes of jaw", "atrophy of alveolar process of jaw" ], [ "flattening of alveolar margin", "flattening of alveolar margin" ], [ "flattening of alveolar processes of jaw", "flattening of alveolar process of jaw" ], [ "flattening of alveolar ridges", "flattening of alveolar ridge" ], [ "flattening of gum ridges", "flattening of gum ridge" ], [ "resorption of alveolar margins", "resorption of alveolar margin" ], [ "resorption of alveolar processes of jaw", "resorption of alveolar process of jaw" ], [ "resorption of alveolar ridges", "resorption of alveolar ridge" ], [ "shrinking of alveolar ridges", "shrinking of alveolar ridge" ], [ "shrinking of gum ridges", "shrinking of gum ridge" ] ], "xref": [ "UMLS:C1855642", "UMLS:C4280454", "UMLS:C4280455" ], "is_a": [ "HP:0006477" ], "is_obsolete": "", "replace_id": "" }, "HP:0006311": { "name": [ "generalized microdontia", "generalize microdontia" ], "alt_id": [], "def": "A generalized form of microdontia.", "synonym": [ [ "decreased size of all teeth", "decreased size of all teeth" ], [ "decreased tooth mass", "decrease tooth mass" ], [ "decreased width of all teeth", "decrease width of all teeth" ], [ "generalised microdontia", "generalise microdontia" ], [ "hypotrophy of all teeth", "hypotrophy of all teeth" ], [ "tooth mass insufficiency", "tooth mass insufficiency" ] ], "xref": [ "UMLS:C4025065" ], "is_a": [ "HP:0000691" ], "is_obsolete": "", "replace_id": "" }, "HP:0006313": { "name": [ "widely spaced primary teeth", "widely space primary teeth" ], "alt_id": [], "def": "Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.", "synonym": [ [ "generalised spacing of primary teeth", "generalised spacing of primary teeth" ], [ "generalized spacing of primary teeth", "generalize spacing of primary teeth" ], [ "wide gaps between baby teeth", "wide gap between baby teeth" ], [ "wide gaps between primary teeth", "wide gap between primary teeth" ], [ "widely spaced baby teeth", "widely space baby teeth" ], [ "widely spaced deciduous teeth", "widely space deciduous teeth" ], [ "widely spaced milk teeth", "widely space milk teeth" ] ], "xref": [ "UMLS:C4021603" ], "is_a": [ "HP:0000687", "HP:0006481" ], "is_obsolete": "", "replace_id": "" }, "HP:0006315": { "name": [ "solitary median maxillary central incisor", "solitary median maxillary central incisor" ], "alt_id": [ "HP:0001568", "HP:0001573", "HP:0006356" ], "def": "A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.", "synonym": [ [ "only one upper front tooth", "only one upper front tooth" ], [ "single central incisor", "single central incisor" ], [ "single central upper incisor", "single central upper incisor" ], [ "single maxillary central incisor", "single maxillary central incisor" ], [ "single median incisor", "single median incisor" ], [ "single median maxillary central incisor", "single median maxillary central incisor" ], [ "single median maxillary incisor", "single median maxillary incisor" ], [ "single midline maxillary incisor", "single midline maxillary incisor" ], [ "single midline upper front tooth", "single midline upper front tooth" ], [ "solitary median maxillary central incisor", "solitary median maxillary central incisor" ], [ "solitary median maxillary central incisor syndrome", "solitary median maxillary central incisor syndrome" ], [ "solitary midline maxillary central incisor", "solitary midline maxillary central incisor" ] ], "xref": [ "MSH:C537342", "SNOMEDCT_US:707609006", "UMLS:C1840235" ], "is_a": [ "HP:0011064" ], "is_obsolete": "", "replace_id": "" }, "HP:0006316": { "name": [ "irregularly spaced teeth", "irregularly space teeth" ], "alt_id": [ "HP:0009081" ], "def": "Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.", "synonym": [ [ "irregular dental spacing", "irregular dental spacing" ], [ "irregularly spaced teeth", "irregularly space teeth" ], [ "variability of dental spacing", "variability of dental spacing" ], [ "variability of spacing between teeth", "variability of space between teeth" ] ], "xref": [ "UMLS:C1845878" ], "is_a": [ "HP:0000692" ], "is_obsolete": "", "replace_id": "" }, "HP:0006321": { "name": [ "multiple non - erupting secondary teeth", "multiple non - erupt secondary teeth" ], "alt_id": [], "def": "", "synonym": [ [ "failure of eruption of multiple adult teeth", "failure of eruption of multiple adult teeth" ], [ "failure of eruption of multiple permanent teeth", "failure of eruption of multiple permanent teeth" ], [ "multiple non - erupting adult teeth", "multiple non - erupt adult teeth" ], [ "multiple non - erupting permanent teeth", "multiple non - erupt permanent teeth" ], [ "multiple unerupted adult teeth", "multiple unerupted adult teeth" ], [ "multiple unerupted permanent teeth", "multiple unerupted permanent teeth" ] ], "xref": [ "UMLS:C1848904" ], "is_a": [ "HP:0000696" ], "is_obsolete": "", "replace_id": "" }, "HP:0006323": { "name": [ "premature loss of primary teeth", "premature loss of primary teeth" ], "alt_id": [ "HP:0006319", "HP:0006351" ], "def": "Loss of the primary (also known as deciduous) teeth before the usual age.", "synonym": [ [ "early loss of baby teeth", "early loss of baby teeth" ], [ "early loss of deciduous teeth", "early loss of deciduous teeth" ], [ "early loss of primary teeth", "early loss of primary teeth" ], [ "premature deciduous tooth loss", "premature deciduous tooth loss" ], [ "premature exfoliation of deciduous teeth", "premature exfoliation of deciduous teeth" ], [ "premature exfoliation of primary teeth", "premature exfoliation of primary teeth" ], [ "premature loss of baby teeth", "premature loss of baby teeth" ], [ "premature loss of deciduous teeth", "premature loss of deciduous teeth" ] ], "xref": [ "SNOMEDCT_US:122483006", "SNOMEDCT_US:39034005", "UMLS:C0266052" ], "is_a": [ "HP:0006480", "HP:0006481" ], "is_obsolete": "", "replace_id": "" }, "HP:0006326": { "name": [ "buried teeth encased in mucopolysaccharide", "bury teeth encase in mucopolysaccharide" ], "alt_id": [], "def": "", "synonym": [ [ "failure of dental eruption due to mucopolysaccharidoses", "failure of dental eruption due to mucopolysaccharidoses" ], [ "failure of tooth eruption due to mucopolysaccharidoses", "failure of tooth eruption due to mucopolysaccharidoses" ], [ "impacted teeth due to mucopolysaccharidoses", "impact teeth due to mucopolysaccharidoses" ], [ "unerupted dentition due to mucopolysaccharidoses", "unerupted dentition due to mucopolysaccharidoses" ], [ "unerupted teeth due to mucopolysaccharidoses", "unerupted teeth due to mucopolysaccharidoses" ] ], "xref": [ "UMLS:C4025064" ], "is_a": [ "HP:0000164" ], "is_obsolete": "", "replace_id": "" }, "HP:0006329": { "name": [ "alveolar process hypoplasia", "alveolar process hypoplasia" ], "alt_id": [ "HP:0006312" ], "def": "Underdevelopment of the alveolar process (also known as alveolar bone).", "synonym": [ [ "decreased size of alveolar process of jaw", "decreased size of alveolar process of jaw" ], [ "decreased size of alveolar ridge", "decreased size of alveolar ridge" ], [ "deficiency of alveolar process of jaw", "deficiency of alveolar process of jaw" ], [ "deficiency of alveolar ridge", "deficiency of alveolar ridge" ], [ "hypoplasia of alveolar ridge", "hypoplasia of alveolar ridge" ], [ "hypoplastic alveolar bone", "hypoplastic alveolar bone" ], [ "hypotrophic alveolar process of jaw", "hypotrophic alveolar process of jaw" ], [ "hypotrophic alveolar ridge", "hypotrophic alveolar ridge" ], [ "small alveolar process of jaw", "small alveolar process of jaw" ], [ "small alveolar ridge", "small alveolar ridge" ], [ "underdevelopment of alveolar process of jaw", "underdevelopment of alveolar process of jaw" ], [ "underdevelopment of alveolar ridge", "underdevelopment of alveolar ridge" ] ], "xref": [ "SNOMEDCT_US:708494003", "UMLS:C1848905", "UMLS:C3872671", "UMLS:C4280451", "UMLS:C4280452", "UMLS:C4280453" ], "is_a": [ "HP:0006477" ], "is_obsolete": "", "replace_id": "" }, "HP:0006330": { "name": [ "rotated maxillary central incisors", "rotate maxillary central incisor" ], "alt_id": [], "def": "", "synonym": [ [ "rotated upper central incisors", "rotate upper central incisor" ], [ "rotated upper front teeth", "rotate upper front teeth" ], [ "turned upper front teeth", "turn upper front teeth" ], [ "twisted upper front teeth", "twist upper front teeth" ] ], "xref": [ "UMLS:C4025063" ], "is_a": [ "HP:0011062" ], "is_obsolete": "", "replace_id": "" }, "HP:0006332": { "name": [ "supernumerary maxillary incisor", "supernumerary maxillary incisor" ], "alt_id": [], "def": "The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.", "synonym": [ [ "extra upper front tooth", "extra upper front tooth" ] ], "xref": [ "UMLS:C4025062" ], "is_a": [ "HP:0011064", "HP:0011069" ], "is_obsolete": "", "replace_id": "" }, "HP:0006333": { "name": [ "crowded maxillary incisors", "crowd maxillary incisor" ], "alt_id": [], "def": "A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor.", "synonym": [ [ "crowded upper front teeth", "crowd upper front teeth" ], [ "crowded upper incisors", "crowd upper incisor" ], [ "overlapped maxillary incisors", "overlap maxillary incisor" ], [ "overlapped upper front teeth", "overlap upper front teeth" ] ], "xref": [ "UMLS:C4021602" ], "is_a": [ "HP:0011062" ], "is_obsolete": "", "replace_id": "" }, "HP:0006334": { "name": [ "hypoplasia of the primary teeth", "hypoplasia of the primary teeth" ], "alt_id": [ "HP:0006318" ], "def": "Developmental hypoplasia of the primary teeth.", "synonym": [ [ "decreased size of baby teeth", "decreased size of baby teeth" ], [ "decreased size of deciduous teeth", "decreased size of deciduous teeth" ], [ "decreased size of milk teeth", "decreased size of milk teeth" ], [ "decreased size of primary teeth", "decreased size of primary teeth" ], [ "hypoplastic deciduous teeth", "hypoplastic deciduous teeth" ], [ "small baby teeth", "small baby teeth" ], [ "small milk teeth", "small milk teeth" ], [ "small primary teeth", "small primary teeth" ], [ "underdevelopment of baby teeth", "underdevelopment of baby teeth" ], [ "underdevelopment of milk teeth", "underdevelopment of milk teeth" ], [ "underdevelopment of primary teeth", "underdevelopment of primary teeth" ] ], "xref": [ "UMLS:C1855694" ], "is_a": [ "HP:0000685", "HP:0006481" ], "is_obsolete": "", "replace_id": "" }, "HP:0006335": { "name": [ "persistence of primary teeth", "persistence of primary teeth" ], "alt_id": [ "HP:0003772", "HP:0006299", "HP:0006305", "HP:0006341", "HP:0006354" ], "def": "Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.", "synonym": [ [ "deciduous teeth retention", "deciduous teeth retention" ], [ "delayed loss of baby teeth", "delayed loss of baby teeth" ], [ "delayed loss of deciduous teeth", "delayed loss of deciduous teeth" ], [ "delayed loss of primary teeth", "delayed loss of primary teeth" ], [ "failure to exfoliate deciduous teeth", "failure to exfoliate deciduous teeth" ], [ "failure to exfoliate primary teeth", "failure to exfoliate primary teeth" ], [ "failure to lose baby teeth", "failure to lose baby teeth" ], [ "persistence of deciduous teeth", "persistence of deciduous teeth" ], [ "persistent deciduous dentition", "persistent deciduous dentition" ], [ "persistent primary dentition", "persistent primary dentition" ], [ "persistent primary teeth", "persistent primary teeth" ], [ "retained baby teeth", "retain baby teeth" ], [ "retained deciduous teeth", "retain deciduous teeth" ], [ "retained primary teeth", "retain primary teeth" ] ], "xref": [ "SNOMEDCT_US:57650002", "UMLS:C0266050" ], "is_a": [ "HP:0006292", "HP:0006481" ], "is_obsolete": "", "replace_id": "" }, "HP:0006336": { "name": [ "short dental root", "short dental root" ], "alt_id": [], "def": "Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.", "synonym": [ [ "decreased length of dental roots", "decreased length of dental root" ], [ "decreased length of tooth roots", "decreased length of tooth root" ], [ "dental root hypoplasia", "dental root hypoplasia" ], [ "dental root hypotrophy", "dental root hypotrophy" ], [ "rhizomicry", "rhizomicry" ], [ "root dwarfism", "root dwarfism" ], [ "short dental roots", "short dental root" ], [ "short tooth roots", "short tooth root" ], [ "underdeveloped dental roots", "underdeveloped dental root" ], [ "underdeveloped tooth roots", "underdeveloped tooth root" ] ], "xref": [ "UMLS:C2678330" ], "is_a": [ "HP:0040220" ], "is_obsolete": "", "replace_id": "" }, "HP:0006337": { "name": [ "premature eruption of permanent teeth", "premature eruption of permanent teeth" ], "alt_id": [], "def": "Premature tooth eruption of the permanent dentition.", "synonym": [ [ "early eruption of adult teeth", "early eruption of adult teeth" ], [ "early eruption of permanent teeth", "early eruption of permanent teeth" ], [ "precocious eruption of secondary dentition", "precocious eruption of secondary dentition" ], [ "precocious eruption of secondary teeth", "precocious eruption of secondary teeth" ], [ "premature eruption of adult teeth", "premature eruption of adult teeth" ] ], "xref": [ "UMLS:C4021601" ], "is_a": [ "HP:0006288" ], "is_obsolete": "", "replace_id": "" }, "HP:0006338": { "name": [ "malformation of mandibular premolar", "malformation of mandibular premolar" ], "alt_id": [], "def": "An abnormality of the morphology of secondary premolar tooth.", "synonym": [ [ "malformation of lower premolar", "malformation of low premolar" ], [ "malformation of mandibular bicuspid", "malformation of mandibular bicuspid" ] ], "xref": [ "UMLS:C4025061" ], "is_a": [ "HP:0011080" ], "is_obsolete": "", "replace_id": "" }, "HP:0006339": { "name": [ "conical mandibular incisor", "conical mandibular incisor" ], "alt_id": [], "def": "An abnormal conical morphology of the primary or permanent mandibular incisors.", "synonym": [ [ "cone shaped lower front tooth", "cone shape low front tooth" ], [ "conoid mandibular incisor", "conoid mandibular incisor" ], [ "lower front shark tooth", "low front shark tooth" ], [ "peg shaped lower front tooth", "peg shape low front tooth" ], [ "peg shaped mandibular incisor", "peg shape mandibular incisor" ], [ "pointed mandibular incisor", "point mandibular incisor" ], [ "pointed mandibular incisors", "point mandibular incisor" ] ], "xref": [ "UMLS:C4020818", "UMLS:C4280449", "UMLS:C4280450" ], "is_a": [ "HP:0011065" ], "is_obsolete": "", "replace_id": "" }, "HP:0006342": { "name": [ "peg - shaped maxillary lateral incisors", "peg - shaped maxillary lateral incisor" ], "alt_id": [], "def": "A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter", "synonym": [ [ "cone shaped upper lateral incisors", "cone shape upper lateral incisor" ], [ "conical maxillary lateral incisors", "conical maxillary lateral incisor" ], [ "conoid upper lateral incisors", "conoid upper lateral incisor" ], [ "peg laterals", "peg lateral" ], [ "peg shaped upper lateral incisors", "peg shape upper lateral incisor" ], [ "peg - shaped tooth", "peg - shape tooth" ], [ "pointed upper lateral incisors", "point upper lateral incisor" ] ], "xref": [ "UMLS:C4025060" ], "is_a": [ "HP:0011065" ], "is_obsolete": "", "replace_id": "" }, "HP:0006344": { "name": [ "abnormality of primary molar morphology", "abnormality of primary molar morphology" ], "alt_id": [], "def": "An abnormality of morphology of primary molar.", "synonym": [ [ "abnormality of deciduous molar morphology", "abnormality of deciduous molar morphology" ], [ "abnormality of shape of baby molar", "abnormality of shape of baby molar" ], [ "abnormality of shape of primary molar", "abnormality of shape of primary molar" ] ], "xref": [ "UMLS:C4025059" ], "is_a": [ "HP:0006481", "HP:0011070" ], "is_obsolete": "", "replace_id": "" }, "HP:0006346": { "name": [ "screwdriver - shaped incisors", "screwdriver - shaped incisor" ], "alt_id": [], "def": "An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.", "synonym": [ [ "screwdriver shaped front teeth", "screwdriver shape front teeth" ], [ "screwdriver - shaped incisors", "screwdriver - shaped incisor" ] ], "xref": [ "UMLS:C4025058" ], "is_a": [ "HP:0011063" ], "is_obsolete": "", "replace_id": "" }, "HP:0006347": { "name": [ "microdontia of primary teeth", "microdontia of primary teeth" ], "alt_id": [], "def": "Decreased size of the primary teeth.", "synonym": [ [ "decreased size of primary tooth", "decreased size of primary tooth" ], [ "decreased width of baby teeth", "decrease width of baby teeth" ], [ "decreased width of deciduous teeth", "decrease width of deciduous teeth" ], [ "decreased width of milk teeth", "decrease width of milk teeth" ], [ "decreased width of primary tooth", "decrease width of primary tooth" ], [ "microdontia of deciduous teeth", "microdontia of deciduous teeth" ], [ "small deciduous teeth", "small deciduous teeth" ] ], "xref": [ "UMLS:C1855694", "UMLS:C1856203" ], "is_a": [ "HP:0000691", "HP:0006481" ], "is_obsolete": "", "replace_id": "" }, "HP:0006349": { "name": [ "agenesis of permanent teeth", "agenesis of permanent teeth" ], "alt_id": [ "HP:0000681", "HP:0006287" ], "def": "A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.", "synonym": [ [ "absence of permanent teeth", "absence of permanent teeth" ], [ "absent permanent teeth", "absent permanent teeth" ], [ "agenesis of permanent dentition", "agenesis of permanent dentition" ], [ "agenesis of secondary dentition", "agenesis of secondary dentition" ], [ "failure of development of permanent teeth", "failure of development of permanent teeth" ], [ "failure of development of secondary teeth", "failure of development of secondary teeth" ], [ "missing teeth", "miss teeth" ] ], "xref": [ "MSH:C563203", "SNOMEDCT_US:109444001", "SNOMEDCT_US:234948008", "UMLS:C0457756", "UMLS:C1290511" ], "is_a": [ "HP:0009804", "HP:0011044" ], "is_obsolete": "", "replace_id": "" }, "HP:0006350": { "name": [ "pulp obliteration", "pulp obliteration" ], "alt_id": [], "def": "Mineralized substance filling the entire dental pulp space.", "synonym": [ [ "crescent / chevron - shaped pulp chambers", "crescent / chevron - shaped pulp chamber" ], [ "narrowing of pulp chamber of tooth", "narrowing of pulp chamber of tooth" ], [ "obliteration of the pulp chamber", "obliteration of the pulp chamber" ], [ "pulp canal obliteration", "pulp canal obliteration" ], [ "reduced size of pulp chamber of tooth", "reduce size of pulp chamber of tooth" ], [ "small pulp chamber of tooth", "small pulp chamber of tooth" ] ], "xref": [ "UMLS:C4020817", "UMLS:C4025057", "UMLS:C4280448" ], "is_a": [ "HP:0006479" ], "is_obsolete": "", "replace_id": "" }, "HP:0006352": { "name": [ "failure of eruption of permanent teeth", "failure of eruption of permanent teeth" ], "alt_id": [ "HP:0006309" ], "def": "Lack of tooth eruption of the secondary dentition.", "synonym": [ [ "failure of eruption of adult teeth", "failure of eruption of adult teeth" ], [ "unerupted adult dentition", "unerupted adult dentition" ], [ "unerupted adult teeth", "unerupted adult teeth" ], [ "unerupted permanent dentition", "unerupted permanent dentition" ], [ "unerupted permanent teeth", "unerupted permanent teeth" ] ], "xref": [ "UMLS:C4025056", "UMLS:C4280447" ], "is_a": [ "HP:0000706" ], "is_obsolete": "", "replace_id": "" }, "HP:0006353": { "name": [ "hypoplasia of the tooth germ", "hypoplasia of the tooth germ" ], "alt_id": [], "def": "Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth.", "synonym": [ [ "decreased size of tooth bud", "decreased size of tooth bud" ], [ "decreased size of tooth germ", "decreased size of tooth germ" ], [ "hypoplastic tooth buds", "hypoplastic tooth bud" ], [ "hypotrophic tooth germ", "hypotrophic tooth germ" ], [ "small tooth bud", "small tooth bud" ], [ "small tooth germ", "small tooth germ" ], [ "underdevelopment of tooth bud", "underdevelopment of tooth bud" ], [ "underdevelopment of tooth germ", "underdevelopment of tooth germ" ] ], "xref": [ "UMLS:C4025055" ], "is_a": [ "HP:0000685" ], "is_obsolete": "", "replace_id": "" }, "HP:0006355": { "name": [ "agenesis of mandibular central incisor", "agenesis of mandibular central incisor" ], "alt_id": [], "def": "Agenesis of lower secondary incisor or lower primary incisor.", "synonym": [ [ "absence of lower central incisor", "absence of low central incisor" ], [ "absence of mandibular central incisor", "absence of mandibular central incisor" ], [ "failure of development of mandibular central incisor", "failure of development of mandibular central incisor" ], [ "missing lower central incisor", "miss low central incisor" ], [ "missing mandibular central incisor", "miss mandibular central incisor" ] ], "xref": [ "UMLS:C1840225", "UMLS:C4025054" ], "is_a": [ "HP:0006289", "HP:0200161" ], "is_obsolete": "", "replace_id": "" }, "HP:0006357": { "name": [ "premature loss of permanent teeth", "premature loss of permanent teeth" ], "alt_id": [], "def": "Premature loss of the permanent teeth.", "synonym": [ [ "early loss of adult teeth", "early loss of adult teeth" ], [ "early loss of permanent teeth", "early loss of permanent teeth" ], [ "early loss of secondary dentition", "early loss of secondary dentition" ], [ "premature loss of adult teeth", "premature loss of adult teeth" ], [ "premature loss of secondary teeth", "premature loss of secondary teeth" ] ], "xref": [ "UMLS:C1969738" ], "is_a": [ "HP:0006480" ], "is_obsolete": "", "replace_id": "" }, "HP:0006358": { "name": [ "shovel - shaped maxillary central incisors", "shovel - shape maxillary central incisor" ], "alt_id": [], "def": "A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces.", "synonym": [ [ "shovel tooth", "shovel tooth" ], [ "shovel - shaped upper front teeth", "shovel - shape upper front teeth" ] ], "xref": [ "UMLS:C1833168" ], "is_a": [ "HP:0011063" ], "is_obsolete": "", "replace_id": "" }, "HP:0006361": { "name": [ "irregular femoral epiphysis", "irregular femoral epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "irregular thighbone end part", "irregular thighbone end part" ] ], "xref": [ "UMLS:C1850658" ], "is_a": [ "HP:0006499", "HP:0010582" ], "is_obsolete": "", "replace_id": "" }, "HP:0006362": { "name": [ "varus deformity of humeral neck", "varus deformity of humeral neck" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1854948" ], "is_a": [ "HP:0003887" ], "is_obsolete": "", "replace_id": "" }, "HP:0006366": { "name": [ "adductor longus contractures", "adductor longus contracture" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1859524" ], "is_a": [ "HP:0005750" ], "is_obsolete": "", "replace_id": "" }, "HP:0006367": { "name": [ "crumpled long bones", "crumple long bone" ], "alt_id": [], "def": "An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta.", "synonym": [ [ "crumpled long bones", "crumple long bone" ] ], "xref": [ "UMLS:C1970497" ], "is_a": [ "HP:0011314" ], "is_obsolete": "", "replace_id": "" }, "HP:0006368": { "name": [ "forearm reduction defects", "forearm reduction defect" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1849327" ], "is_a": [ "HP:0002973" ], "is_obsolete": "", "replace_id": "" }, "HP:0006369": { "name": [ "irregular patellae", "irregular patella" ], "alt_id": [ "HP:0006458" ], "def": "An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour.", "synonym": [ [ "irregular patellar contour", "irregular patellar contour" ], [ "irregular patellar margins", "irregular patellar margin" ] ], "xref": [ "UMLS:C1836870" ], "is_a": [ "HP:0003045" ], "is_obsolete": "", "replace_id": "" }, "HP:0006370": { "name": [ "distal ulnar epiphyseal stippling", "distal ulnar epiphyseal stipple" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.", "synonym": [ [ "distal ulnar epiphyseal calcifications", "distal ulnar epiphyseal calcification" ] ], "xref": [ "UMLS:C4021600" ], "is_a": [ "HP:0010600", "HP:0010655", "HP:0040073" ], "is_obsolete": "", "replace_id": "" }, "HP:0006371": { "name": [ "broad long bone diaphyses", "broad long bone diaphysis" ], "alt_id": [], "def": "Increased width of the diaphysis of long bones.", "synonym": [ [ "broad shaft of long bone", "broad shaft of long bone" ], [ "wide shaft of long bone", "wide shaft of long bone" ] ], "xref": [ "UMLS:C4025053" ], "is_a": [ "HP:0000940" ], "is_obsolete": "", "replace_id": "" }, "HP:0006375": { "name": [ "dumbbell - shaped femur", "dumbbell - shape femur" ], "alt_id": [], "def": "The femur is shortened and displays flaring (widening) of the metaphyses.", "synonym": [ [ "dumbbell - shaped thighbone", "dumbbell - shape thighbone" ] ], "xref": [ "UMLS:C4025052" ], "is_a": [ "HP:0000947", "HP:0002823" ], "is_obsolete": "", "replace_id": "" }, "HP:0006376": { "name": [ "limited elbow flexion", "limited elbow flexion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1856922" ], "is_a": [ "HP:0002996" ], "is_obsolete": "", "replace_id": "" }, "HP:0006378": { "name": [ "osteolysis of patellae", "osteolysis of patella" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025051" ], "is_a": [ "HP:0003045", "HP:0009139" ], "is_obsolete": "", "replace_id": "" }, "HP:0006379": { "name": [ "proximal tibial hypoplasia", "proximal tibial hypoplasia" ], "alt_id": [], "def": "", "synonym": [ [ "proximal tibial hypopolasia", "proximal tibial hypopolasia" ] ], "xref": [ "UMLS:C1856029" ], "is_a": [ "HP:0005736" ], "is_obsolete": "", "replace_id": "" }, "HP:0006380": { "name": [ "knee flexion contracture", "knee flexion contracture" ], "alt_id": [ "HP:0002978" ], "def": "A bent (flexed) knee joint that cannot be straightened actively or passively.", "synonym": [ [ "contractures of knees", "contracture of knee" ], [ "contractures of the knees", "contracture of the knee" ], [ "flexion contracture of knees", "flexion contracture of knee" ], [ "flexion contractures at both knees", "flexion contracture at both knee" ], [ "flexion contractures of knees", "flexion contracture of knee" ], [ "flexion deformity of the knee", "flexion deformity of the knee" ], [ "inability to straighten knee", "inability to straighten knee" ], [ "knee contracture", "knee contracture" ], [ "knee contractures", "knee contracture" ], [ "knee flexion contractures", "knee flexion contracture" ], [ "knee flexion deformity", "knee flexion deformity" ] ], "xref": [ "SNOMEDCT_US:202289003", "UMLS:C0409355" ], "is_a": [ "HP:0002815", "HP:0005750" ], "is_obsolete": "", "replace_id": "" }, "HP:0006381": { "name": [ "rudimentary fibula", "rudimentary fibula" ], "alt_id": [ "HP:0004986" ], "def": "Absent or nearly absent fibula. (Does not include aplastic)", "synonym": [ [ "rudimentary to absent fibulae", "rudimentary to absent fibula" ], [ "small to absent calf bone", "small to absent calf bone" ], [ "small to absent fibula", "small to absent fibula" ] ], "xref": [ "UMLS:C1844706" ], "is_a": [ "HP:0003038" ], "is_obsolete": "", "replace_id": "" }, "HP:0006383": { "name": [ "progressive bowing of long bones", "progressive bowing of long bone" ], "alt_id": [], "def": "Progressive bending or abnormal curvature of a long bone.", "synonym": [], "xref": [ "UMLS:C1857137" ], "is_a": [ "HP:0006487" ], "is_obsolete": "", "replace_id": "" }, "HP:0006384": { "name": [ "club - shaped distal femur", "club - shaped distal femur" ], "alt_id": [ "HP:0006447" ], "def": "An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.", "synonym": [ [ "club - shaped distal femora", "club - shaped distal femur" ], [ "club - shaped outermost end of thighbone", "club - shape outermost end of thighbone" ] ], "xref": [ "UMLS:C1857505" ], "is_a": [ "HP:0002823" ], "is_obsolete": "", "replace_id": "" }, "HP:0006385": { "name": [ "short lower limbs", "short low limb" ], "alt_id": [ "HP:0003054" ], "def": "Shortening of the legs related to developmental hypoplasia of the bones of the leg.", "synonym": [ [ "short legs", "short leg" ], [ "short lower limbs", "short low limb" ] ], "xref": [ "SNOMEDCT_US:249786007", "UMLS:C0426901" ], "is_a": [ "HP:0009816" ], "is_obsolete": "", "replace_id": "" }, "HP:0006386": { "name": [ "hypoplastic distal radial epiphyses", "hypoplastic distal radial epiphysis" ], "alt_id": [], "def": "Underdevelopment of the distal epiphysis of the radius.", "synonym": [], "xref": [ "UMLS:C1969286" ], "is_a": [ "HP:0010597" ], "is_obsolete": "", "replace_id": "" }, "HP:0006387": { "name": [ "wide distal femoral metaphysis", "wide distal femoral metaphysis" ], "alt_id": [], "def": "Increased width of the distal part of the shaft (metaphysis) of the femur.", "synonym": [ [ "broad outermost wide portion of thighbone", "broad outermost wide portion of thighbone" ], [ "wide distal metaphysis of femur", "wide distal metaphysis of femur" ] ], "xref": [ "UMLS:C1849309" ], "is_a": [ "HP:0030299" ], "is_obsolete": "", "replace_id": "" }, "HP:0006389": { "name": [ "limited knee flexion", "limited knee flexion" ], "alt_id": [], "def": "Reduced ability to flex (bend) the knee joint.", "synonym": [], "xref": [ "UMLS:C1839512" ], "is_a": [ "HP:0010501" ], "is_obsolete": "", "replace_id": "" }, "HP:0006390": { "name": [ "anterior tibial bowing", "anterior tibial bowing" ], "alt_id": [], "def": "An abnormal anterior bending or curvature of the tibia.", "synonym": [ [ "anterior bowing of tibia", "anterior bowing of tibia" ] ], "xref": [ "UMLS:C1861937" ], "is_a": [ "HP:0002982" ], "is_obsolete": "", "replace_id": "" }, "HP:0006391": { "name": [ "overtubulated long bones", "overtubulated long bone" ], "alt_id": [], "def": "Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.", "synonym": [], "xref": [ "UMLS:C1848769" ], "is_a": [ "HP:0011314" ], "is_obsolete": "", "replace_id": "" }, "HP:0006392": { "name": [ "increased density of long bones", "increase density of long bone" ], "alt_id": [], "def": "An abnormal increase in the bone density of the long bones.", "synonym": [ [ "increased density of long bones", "increase density of long bone" ] ], "xref": [ "UMLS:C1849307" ], "is_a": [ "HP:0011001", "HP:0011314" ], "is_obsolete": "", "replace_id": "" }, "HP:0006394": { "name": [ "limited pronation / supination of forearm", "limited pronation / supination of forearm" ], "alt_id": [], "def": "A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).", "synonym": [ [ "limited pronation / supination of forearm", "limited pronation / supination of forearm" ] ], "xref": [ "UMLS:C1861331" ], "is_a": [ "HP:0002996" ], "is_obsolete": "", "replace_id": "" }, "HP:0006397": { "name": [ "lateral displacement of patellae", "lateral displacement of patella" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1860156" ], "is_a": [ "HP:0003045" ], "is_obsolete": "", "replace_id": "" }, "HP:0006398": { "name": [ "flat distal femoral epiphysis", "flat distal femoral epiphysis" ], "alt_id": [], "def": "An abnormal flattening of the distal epiphysis of femur.", "synonym": [ [ "flat end part of outermost thighbone", "flat end part of outermost thighbone" ], [ "flattened distal femoral epiphyses", "flatten distal femoral epiphysis" ] ], "xref": [ "UMLS:C4021599" ], "is_a": [ "HP:0010590", "HP:0030289" ], "is_obsolete": "", "replace_id": "" }, "HP:0006400": { "name": [ "absent knee epiphyses", "absent knee epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "absent knee end part", "absent knee end part" ] ], "xref": [ "UMLS:C1859462" ], "is_a": [ "HP:0002815", "HP:0010577" ], "is_obsolete": "", "replace_id": "" }, "HP:0006402": { "name": [ "distal shortening of limbs", "distal shortening of limb" ], "alt_id": [], "def": "", "synonym": [ [ "short outer part of limbs", "short out part of limb" ] ], "xref": [ "UMLS:C1840307" ], "is_a": [ "HP:0009826" ], "is_obsolete": "", "replace_id": "" }, "HP:0006406": { "name": [ "club - shaped proximal femur", "club - shape proximal femur" ], "alt_id": [], "def": "An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.", "synonym": [ [ "club - shaped innermost end of thighbone", "club - shape innermost end of thighbone" ] ], "xref": [ "UMLS:C1968611" ], "is_a": [ "HP:0002823" ], "is_obsolete": "", "replace_id": "" }, "HP:0006407": { "name": [ "irregular distal femoral epiphysis", "irregular distal femoral epiphysis" ], "alt_id": [], "def": "Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.", "synonym": [ [ "irregular outermost thighbone end part", "irregular outermost thighbone end part" ] ], "xref": [ "UMLS:C4025050" ], "is_a": [ "HP:0006361", "HP:0010590" ], "is_obsolete": "", "replace_id": "" }, "HP:0006408": { "name": [ "distal tapering femur", "distal tapering femur" ], "alt_id": [], "def": "", "synonym": [ [ "tapering of outermost end of thighbone", "tapering of outermost end of thighbone" ] ], "xref": [ "UMLS:C4025049" ], "is_a": [ "HP:0002823" ], "is_obsolete": "", "replace_id": "" }, "HP:0006409": { "name": [ "progressive leg bowing", "progressive leg bowing" ], "alt_id": [], "def": "Progressive bending or abnormal curvature of the leg.", "synonym": [], "xref": [ "UMLS:C1855191" ], "is_a": [ "HP:0006383" ], "is_obsolete": "", "replace_id": "" }, "HP:0006413": { "name": [ "broad tibial metaphyses", "broad tibial metaphyses" ], "alt_id": [], "def": "", "synonym": [ [ "broad wide portion of shankbone", "broad wide portion of shankbone" ], [ "broad wide portion of shinbone", "broad wide portion of shinbone" ] ], "xref": [ "UMLS:C2678328" ], "is_a": [ "HP:0006491" ], "is_obsolete": "", "replace_id": "" }, "HP:0006414": { "name": [ "distal tibial bowing", "distal tibial bowing" ], "alt_id": [], "def": "A bending or abnormal curvature of the distal portion of the tibia.", "synonym": [ [ "bowing of the distal tibia", "bowing of the distal tibia" ], [ "tibial bowing at ankle", "tibial bowing at ankle" ] ], "xref": [ "UMLS:C4021598" ], "is_a": [ "HP:0002982", "HP:0003028" ], "is_obsolete": "", "replace_id": "" }, "HP:0006415": { "name": [ "cortically dense long tubular bones", "cortically dense long tubular bone" ], "alt_id": [], "def": "Increased density of the compact bone of long bone.", "synonym": [], "xref": [ "UMLS:C1849276" ], "is_a": [ "HP:0000935" ], "is_obsolete": "", "replace_id": "" }, "HP:0006417": { "name": [ "broad femoral metaphyses", "broad femoral metaphyses" ], "alt_id": [], "def": "", "synonym": [ [ "broad wide portion of thigh bone", "broad wide portion of thigh bone" ] ], "xref": [ "UMLS:C1864854" ], "is_a": [ "HP:0006489" ], "is_obsolete": "", "replace_id": "" }, "HP:0006420": { "name": [ "asymmetric radial dysplasia", "asymmetric radial dysplasia" ], "alt_id": [], "def": "The presence of asymmetric developmental dysplasia of the radius.", "synonym": [], "xref": [ "UMLS:C1969396" ], "is_a": [ "HP:0006433" ], "is_obsolete": "", "replace_id": "" }, "HP:0006423": { "name": [ "peg - like central prominence of distal tibial metaphyses", "peg - like central prominence of distal tibial metaphyses" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1846160" ], "is_a": [ "HP:0006491" ], "is_obsolete": "", "replace_id": "" }, "HP:0006424": { "name": [ "elongated radius", "elongate radius" ], "alt_id": [], "def": "Increased length of the radius.", "synonym": [], "xref": [ "UMLS:C4025048" ], "is_a": [ "HP:0045009" ], "is_obsolete": "", "replace_id": "" }, "HP:0006426": { "name": [ "rudimentary to absent tibiae", "rudimentary to absent tibia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1968943" ], "is_a": [ "HP:0005772" ], "is_obsolete": "", "replace_id": "" }, "HP:0006429": { "name": [ "broad femoral neck", "broad femoral neck" ], "alt_id": [ "HP:0003369", "HP:0003372", "HP:0008781", "HP:0008782", "HP:0008836" ], "def": "An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).", "synonym": [ [ "broadening of femoral neck", "broadening of femoral neck" ], [ "wide femoral neck", "wide femoral neck" ], [ "wide neck of thigh bone", "wide neck of thigh bone" ], [ "widened femoral necks", "widen femoral neck" ] ], "xref": [ "UMLS:C1849016" ], "is_a": [ "HP:0003367" ], "is_obsolete": "", "replace_id": "" }, "HP:0006431": { "name": [ "proximal femoral metaphyseal abnormality", "proximal femoral metaphyseal abnormality" ], "alt_id": [], "def": "An anomaly of the metaphysis of the proximal femur (close to the hip).", "synonym": [ [ "abnormal wide portion of innermost thighbone", "abnormal wide portion of innermost thighbone" ] ], "xref": [ "UMLS:C4025047" ], "is_a": [ "HP:0006489" ], "is_obsolete": "", "replace_id": "" }, "HP:0006432": { "name": [ "trapezoidal distal femoral condyles", "trapezoidal distal femoral condyle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1843983" ], "is_a": [ "HP:0002823" ], "is_obsolete": "", "replace_id": "" }, "HP:0006433": { "name": [ "radial dysplasia", "radial dysplasia" ], "alt_id": [], "def": "Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.", "synonym": [ [ "dysplastic radii", "dysplastic radius" ], [ "radial longitudinal deficiency", "radial longitudinal deficiency" ] ], "xref": [ "UMLS:C4025046" ], "is_a": [ "HP:0003330", "HP:0045009" ], "is_obsolete": "", "replace_id": "" }, "HP:0006434": { "name": [ "hypoplasia of proximal radius", "hypoplasia of proximal radius" ], "alt_id": [ "HP:0006365" ], "def": "Proximal radial shortening owing to a congenital defect of development.", "synonym": [ [ "proximal radial shortening", "proximal radial shortening" ] ], "xref": [ "UMLS:C1859477" ], "is_a": [ "HP:0002984" ], "is_obsolete": "", "replace_id": "" }, "HP:0006436": { "name": [ "obsolete shortening of the tibia", "obsolete shortening of the tibia" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0005736" }, "HP:0006437": { "name": [ "disproportionate prominence of the femoral medial condyle", "disproportionate prominence of the femoral medial condyle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1834392" ], "is_a": [ "HP:0002823" ], "is_obsolete": "", "replace_id": "" }, "HP:0006438": { "name": [ "enlargement of the distal femoral epiphysis", "enlargement of the distal femoral epiphysis" ], "alt_id": [], "def": "An abnormal enlargement of the distal epiphysis of the femur.", "synonym": [ [ "enlargement of the outermost thighbone end part", "enlargement of the outermost thighbone end part" ], [ "large distal femoral epiphyses", "large distal femoral epiphysis" ] ], "xref": [ "UMLS:C1843105" ], "is_a": [ "HP:0010590" ], "is_obsolete": "", "replace_id": "" }, "HP:0006439": { "name": [ "radioulnar dislocation", "radioulnar dislocation" ], "alt_id": [ "HP:0003972" ], "def": "", "synonym": [ [ "dislocated radioulnar joints", "dislocate radioulnar joint" ] ], "xref": [ "UMLS:C2673394" ], "is_a": [ "HP:0003059" ], "is_obsolete": "", "replace_id": "" }, "HP:0006440": { "name": [ "increased density of long bone diaphyses", "increase density of long bone diaphysis" ], "alt_id": [], "def": "", "synonym": [ [ "increased density of shaft of long bone", "increase density of shaft of long bone" ] ], "xref": [ "UMLS:C1844516" ], "is_a": [ "HP:0000940", "HP:0006392" ], "is_obsolete": "", "replace_id": "" }, "HP:0006441": { "name": [ "lateral humeral condyle aplasia", "lateral humeral condyle aplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1833878" ], "is_a": [ "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0006442": { "name": [ "hypoplasia of proximal fibula", "hypoplasia of proximal fibula" ], "alt_id": [], "def": "Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee.", "synonym": [ [ "small innermost upper end of calf bone", "small innermost upper end of calf bone" ], [ "underdeveloped innermost upper end of calf bone", "underdeveloped innermost upper end of calf bone" ] ], "xref": [ "UMLS:C1859478" ], "is_a": [ "HP:0003038" ], "is_obsolete": "", "replace_id": "" }, "HP:0006443": { "name": [ "patellar aplasia", "patellar aplasia" ], "alt_id": [ "HP:0003046", "HP:0006475" ], "def": "Absence of the patella.", "synonym": [ [ "absent kneecap", "absent kneecap" ], [ "absent patella", "absent patella" ], [ "absent patellae", "absent patella" ], [ "absent patellas", "absent patella" ], [ "aplastic patellae", "aplastic patella" ] ], "xref": [ "UMLS:C1868578" ], "is_a": [ "HP:0006498" ], "is_obsolete": "", "replace_id": "" }, "HP:0006446": { "name": [ "dysplastic patella", "dysplastic patella" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1849580" ], "is_a": [ "HP:0003045", "HP:0003330" ], "is_obsolete": "", "replace_id": "" }, "HP:0006449": { "name": [ "distal radial epiphyseal osteolysis", "distal radial epiphyseal osteolysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850145" ], "is_a": [ "HP:0010597" ], "is_obsolete": "", "replace_id": "" }, "HP:0006450": { "name": [ "multicentric ossification of proximal femoral epiphyses", "multicentric ossification of proximal femoral epiphysis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1857193" ], "is_a": [ "HP:0009107", "HP:0010574" ], "is_obsolete": "", "replace_id": "" }, "HP:0006453": { "name": [ "lateral displacement of the femoral head", "lateral displacement of the femoral head" ], "alt_id": [], "def": "A developmental anomaly with lateral displacement of the femoral head.", "synonym": [ [ "laterally displaced femoral heads", "laterally displaced femoral head" ] ], "xref": [ "UMLS:C1855758" ], "is_a": [ "HP:0003368" ], "is_obsolete": "", "replace_id": "" }, "HP:0006454": { "name": [ "delayed patellar ossification", "delay patellar ossification" ], "alt_id": [], "def": "Formation of bone in the patella later than normal.", "synonym": [ [ "delayed bone maturation of the knee cap", "delay bone maturation of the knee cap" ], [ "delayed patellae ossification", "delay patella ossification" ] ], "xref": [ "UMLS:C4021597", "UMLS:C4280446" ], "is_a": [ "HP:0003045", "HP:0003336" ], "is_obsolete": "", "replace_id": "" }, "HP:0006456": { "name": [ "irregular proximal tibial epiphyses", "irregular proximal tibial epiphysis" ], "alt_id": [], "def": "Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.", "synonym": [ [ "irregular innermost shankbone end part", "irregular innermost shankbone end part" ], [ "irregular innermost shinbone end part", "irregular innermost shinbone end part" ] ], "xref": [ "UMLS:C4025045" ], "is_a": [ "HP:0010582", "HP:0010591" ], "is_obsolete": "", "replace_id": "" }, "HP:0006459": { "name": [ "dorsal subluxation of ulna", "dorsal subluxation of ulna" ], "alt_id": [], "def": "Partial dislocation of the ulna in the dorsal direction.", "synonym": [], "xref": [ "UMLS:C1851988" ], "is_a": [ "HP:0002997" ], "is_obsolete": "", "replace_id": "" }, "HP:0006460": { "name": [ "increased laxity of ankles", "increase laxity of ankle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850854" ], "is_a": [ "HP:0003028" ], "is_obsolete": "", "replace_id": "" }, "HP:0006461": { "name": [ "proximal femoral epiphysiolysis", "proximal femoral epiphysiolysis" ], "alt_id": [ "HP:0003000" ], "def": "Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt.", "synonym": [ [ "slipped capilal femoral epiphysis", "slip capilal femoral epiphysis" ], [ "slipped capital femoral epiphyses", "slipped capital femoral epiphysis" ], [ "slipped end part of innermost thighbone", "slipped end part of innermost thighbone" ] ], "xref": [ "MSH:D060048", "UMLS:C0149887" ], "is_a": [ "HP:0010574" ], "is_obsolete": "", "replace_id": "" }, "HP:0006462": { "name": [ "generalized bone demineralization", "generalize bone demineralization" ], "alt_id": [], "def": "A generalized decrease in bone mineral density.", "synonym": [ [ "generalised bone demineralization", "generalise bone demineralization" ] ], "xref": [ "UMLS:C1833326" ], "is_a": [ "HP:0004349" ], "is_obsolete": "", "replace_id": "" }, "HP:0006463": { "name": [ "rickets of the lower limbs", "rickets of the low limb" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1833323" ], "is_a": [ "HP:0002748", "HP:0002814" ], "is_obsolete": "", "replace_id": "" }, "HP:0006465": { "name": [ "periosteal thickening of long tubular bones", "periosteal thickening of long tubular bone" ], "alt_id": [], "def": "Thickening of the periosteum of long bone.", "synonym": [], "xref": [ "UMLS:C1834345" ], "is_a": [ "HP:0011314", "HP:0030313" ], "is_obsolete": "", "replace_id": "" }, "HP:0006466": { "name": [ "ankle flexion contracture", "ankle flexion contracture" ], "alt_id": [ "HP:0004985", "HP:0006403" ], "def": "A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.", "synonym": [ [ "ankle contracture", "ankle contracture" ], [ "ankle contractures", "ankle contracture" ], [ "contractures of the ankles", "contracture of the ankle" ] ], "xref": [ "UMLS:C1837407" ], "is_a": [ "HP:0003028", "HP:0005750" ], "is_obsolete": "", "replace_id": "" }, "HP:0006467": { "name": [ "limited shoulder movement", "limited shoulder movement" ], "alt_id": [], "def": "A limitation of the range of movement of the shoulder joint.", "synonym": [ [ "limited shoulder movement", "limited shoulder movement" ] ], "xref": [ "UMLS:C1851313" ], "is_a": [ "HP:0001376", "HP:0033129" ], "is_obsolete": "", "replace_id": "" }, "HP:0006470": { "name": [ "thin long bone diaphyses", "thin long bone diaphysis" ], "alt_id": [], "def": "Decreased width of the diaphysis of long bones.", "synonym": [ [ "thin diaphyses of long bones", "thin diaphysis of long bone" ], [ "thin shaft of long bone", "thin shaft of long bone" ] ], "xref": [ "UMLS:C1859449" ], "is_a": [ "HP:0000940" ], "is_obsolete": "", "replace_id": "" }, "HP:0006471": { "name": [ "fixed elbow flexion", "fix elbow flexion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025044" ], "is_a": [ "HP:0006376" ], "is_obsolete": "", "replace_id": "" }, "HP:0006473": { "name": [ "anterior bowing of long bones", "anterior bowing of long bone" ], "alt_id": [], "def": "An abnormal anterior curvature of a long bone.", "synonym": [], "xref": [ "UMLS:C1850644" ], "is_a": [ "HP:0006487" ], "is_obsolete": "", "replace_id": "" }, "HP:0006476": { "name": [ "abnormality of the pancreatic islet cells", "abnormality of the pancreatic islet cell" ], "alt_id": [ "HP:0100567" ], "def": "An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.", "synonym": [], "xref": [ "UMLS:C4025043" ], "is_a": [ "HP:0012093" ], "is_obsolete": "", "replace_id": "" }, "HP:0006477": { "name": [ "abnormality of the alveolar ridges", "abnormality of the alveolar ridge" ], "alt_id": [], "def": "Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.", "synonym": [ [ "abnormality of alveolar margin", "abnormality of alveolar margin" ], [ "abnormality of alveolar processes of jaw", "abnormality of alveolar process of jaw" ], [ "abnormality of dentoalveolar ridges", "abnormality of dentoalveolar ridge" ], [ "abnormality of gum ridge", "abnormality of gum ridge" ], [ "defect in alveolar ridge", "defect in alveolar ridge" ] ], "xref": [ "SNOMEDCT_US:235013007", "UMLS:C0341007", "UMLS:C4280445" ], "is_a": [ "HP:0000163" ], "is_obsolete": "", "replace_id": "" }, "HP:0006479": { "name": [ "abnormal dental pulp morphology", "abnormal dental pulp morphology" ], "alt_id": [], "def": "An abnormality of the dental pulp.", "synonym": [ [ "abnormality of the dental pulp", "abnormality of the dental pulp" ], [ "abnormality of tooth pulp", "abnormality of tooth pulp" ], [ "endodontic abnormality", "endodontic abnormality" ] ], "xref": [ "UMLS:C4025042" ], "is_a": [ "HP:0011061" ], "is_obsolete": "", "replace_id": "" }, "HP:0006480": { "name": [ "premature loss of teeth", "premature loss of teeth" ], "alt_id": [ "HP:0000701", "HP:0001564", "HP:0006343" ], "def": "Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.", "synonym": [ [ "early tooth loss", "early tooth loss" ], [ "loss of teeth", "loss of teeth" ], [ "premature exfoliation of teeth", "premature exfoliation of teeth" ], [ "premature teeth loss", "premature teeth loss" ], [ "premature tooth loss", "premature tooth loss" ] ], "xref": [ "SNOMEDCT_US:234974002", "SNOMEDCT_US:42756003", "UMLS:C0232513", "UMLS:C0399385" ], "is_a": [ "HP:0000164" ], "is_obsolete": "", "replace_id": "" }, "HP:0006481": { "name": [ "abnormality of primary teeth", "abnormality of primary teeth" ], "alt_id": [], "def": "Any abnormality of the primary tooth.", "synonym": [ [ "abnormality of baby teeth", "abnormality of baby teeth" ], [ "abnormality of deciduous teeth", "abnormality of deciduous teeth" ], [ "abnormality of milk teeth", "abnormality of milk teeth" ] ], "xref": [ "UMLS:C4021596" ], "is_a": [ "HP:0000164" ], "is_obsolete": "", "replace_id": "" }, "HP:0006482": { "name": [ "abnormality of dental morphology", "abnormality of dental morphology" ], "alt_id": [ "HP:0000697" ], "def": "An abnormality of the morphology of the tooth.", "synonym": [ [ "abnormality of dental shape", "abnormality of dental shape" ], [ "abnormality of shape of tooth", "abnormality of shape of tooth" ], [ "abnormally shaped teeth", "abnormally shape teeth" ], [ "deformity of teeth", "deformity of teeth" ], [ "dental deformity", "dental deformity" ], [ "dental malformations", "dental malformation" ], [ "malformation of teeth", "malformation of teeth" ], [ "malformed teeth", "malformed teeth" ], [ "misshapen teeth", "misshapen teeth" ], [ "misshapened teeth", "misshapened teeth" ] ], "xref": [ "MSH:D014071", "SNOMEDCT_US:422775003", "UMLS:C0040427", "UMLS:C0262444" ], "is_a": [ "HP:0000164" ], "is_obsolete": "", "replace_id": "" }, "HP:0006483": { "name": [ "abnormal number of teeth", "abnormal number of teeth" ], "alt_id": [], "def": "The presence of an altered number of of teeth.", "synonym": [ [ "abnormal complement of teeth", "abnormal complement of teeth" ], [ "abnormal number of teeth", "abnormal number of teeth" ], [ "abnormal tooth count", "abnormal tooth count" ] ], "xref": [ "SNOMEDCT_US:335443002", "UMLS:C1290508" ], "is_a": [ "HP:0000164" ], "is_obsolete": "", "replace_id": "" }, "HP:0006485": { "name": [ "agenesis of incisor", "agenesis of incisor" ], "alt_id": [], "def": "Agenesis of incisor.", "synonym": [ [ "absence of front tooth", "absence of front tooth" ], [ "absence of incisors", "absence of incisor" ], [ "failure of development of incisor", "failure of development of incisor" ], [ "missing front tooth", "miss front tooth" ], [ "missing incisors", "miss incisor" ] ], "xref": [ "UMLS:C4020815", "UMLS:C4020816", "UMLS:C4083290" ], "is_a": [ "HP:0001592", "HP:0011064" ], "is_obsolete": "", "replace_id": "" }, "HP:0006486": { "name": [ "abnormal dental root morphology", "abnormal dental root morphology" ], "alt_id": [], "def": "An abnormality of the dental root.", "synonym": [ [ "abnormality of the dental root", "abnormality of the dental root" ], [ "abnormality of tooth root", "abnormality of tooth root" ], [ "dental root anomaly", "dental root anomaly" ] ], "xref": [ "UMLS:C4025041" ], "is_a": [ "HP:0006482" ], "is_obsolete": "", "replace_id": "" }, "HP:0006487": { "name": [ "bowing of the long bones", "bowing of the long bone" ], "alt_id": [ "HP:0002976", "HP:0005087", "HP:0005908", "HP:0006404", "HP:0006451", "HP:0006452" ], "def": "A bending or abnormal curvature of a long bone.", "synonym": [ [ "bowed long bones", "bow long bone" ], [ "bowing of long bones", "bowing of long bone" ], [ "bowing of the long bones", "bowing of the long bone" ], [ "camptomelia", "camptomelia" ], [ "diaphyseal bowing", "diaphyseal bowing" ], [ "diaphyseal bowing of long bones", "diaphyseal bowing of long bone" ] ], "xref": [ "UMLS:C1855340" ], "is_a": [ "HP:0000940" ], "is_obsolete": "", "replace_id": "" }, "HP:0006488": { "name": [ "bowing of the arm", "bowing of the arm" ], "alt_id": [], "def": "A bending or abnormal curvature affecting a long bone of the arm.", "synonym": [ [ "bending of the arm", "bending of the arm" ], [ "bowing of the arm", "bowing of the arm" ] ], "xref": [ "UMLS:C0426863" ], "is_a": [ "HP:0002817", "HP:0006487" ], "is_obsolete": "", "replace_id": "" }, "HP:0006489": { "name": [ "abnormality of the femoral metaphysis", "abnormality of the femoral metaphysis" ], "alt_id": [], "def": "An anomaly of the femoral metaphysis.", "synonym": [ [ "abnormality of the wide portion of the femoral bone", "abnormality of the wide portion of the femoral bone" ] ], "xref": [ "UMLS:C4025040", "UMLS:C4280444" ], "is_a": [ "HP:0002823", "HP:0006490" ], "is_obsolete": "", "replace_id": "" }, "HP:0006490": { "name": [ "abnormality of lower - limb metaphyses", "abnormality of low - limb metaphyses" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the wide portion of the lower - limb bone", "abnormality of the wide portion of the low - limb bone" ] ], "xref": [ "UMLS:C4025039" ], "is_a": [ "HP:0000944", "HP:0002814" ], "is_obsolete": "", "replace_id": "" }, "HP:0006491": { "name": [ "abnormality of the tibial metaphysis", "abnormality of the tibial metaphysis" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the wide portion of shankbone", "abnormality of the wide portion of shankbone" ], [ "abnormality of the wide portion of shinbone", "abnormality of the wide portion of shinbone" ] ], "xref": [ "UMLS:C4025038" ], "is_a": [ "HP:0002992", "HP:0006490" ], "is_obsolete": "", "replace_id": "" }, "HP:0006492": { "name": [ "aplasia / hypoplasia of the fibula", "aplasia / hypoplasia of the fibula" ], "alt_id": [ "HP:0005672", "HP:0006421" ], "def": "Absence or underdevelopment of the fibula.", "synonym": [ [ "absent / small calf bone", "absent / small calf bone" ], [ "absent / underdeveloped calf bone", "absent / underdevelop calf bone" ], [ "fibular aplasia / hypoplasia", "fibular aplasia / hypoplasia" ], [ "hypoplastic / aplastic fibulae", "hypoplastic / aplastic fibula" ] ], "xref": [ "UMLS:C1856732" ], "is_a": [ "HP:0002991", "HP:0006493" ], "is_obsolete": "", "replace_id": "" }, "HP:0006493": { "name": [ "aplasia / hypoplasia involving bones of the lower limbs", "aplasia / hypoplasia involve bone of the low limb" ], "alt_id": [], "def": "Absence (due to failure to form) or underdevelopment of the bones of the lower limbs.", "synonym": [ [ "absent / small lower limb bones", "absent / small low limb bone" ], [ "absent / underdeveloped lower limb bones", "absent / underdevelop low limb bone" ] ], "xref": [ "UMLS:C4025037" ], "is_a": [ "HP:0040069", "HP:0045060" ], "is_obsolete": "", "replace_id": "" }, "HP:0006494": { "name": [ "aplasia / hypoplasia involving bones of the feet", "aplasia / hypoplasia involve bone of the foot" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small foot bones", "absent / small foot bone" ], [ "absent / underdeveloped foot bones", "absent / underdeveloped foot bone" ] ], "xref": [ "UMLS:C4025036" ], "is_a": [ "HP:0001760", "HP:0006493" ], "is_obsolete": "", "replace_id": "" }, "HP:0006495": { "name": [ "aplasia / hypoplasia of the ulna", "aplasia / hypoplasia of the ulna" ], "alt_id": [ "HP:0005097", "HP:0006372", "HP:0006410" ], "def": "Absence or underdevelopment of the ulna.", "synonym": [ [ "absence / underdevelopment of inner forearm bone", "absence / underdevelopment of inner forearm bone" ], [ "absent - hypoplastic ulnae", "absent - hypoplastic ulna" ], [ "absent / small ulna", "absent / small ulna" ], [ "hypoplasia or unilateral / bilateral absence of ulna", "hypoplasia or unilateral / bilateral absence of ulna" ], [ "ulnar hypoplasia / aplasia", "ulnar hypoplasia / aplasia" ] ], "xref": [ "UMLS:C1865571" ], "is_a": [ "HP:0002997", "HP:0006503" ], "is_obsolete": "", "replace_id": "" }, "HP:0006496": { "name": [ "aplasia / hypoplasia involving bones of the upper limbs", "aplasia / hypoplasia involve bone of the upper limb" ], "alt_id": [], "def": "Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.", "synonym": [ [ "absent / small bones of the upper limbs", "absent / small bone of the upper limb" ], [ "absent / underdeveloped bones of the upper limbs", "absent / underdeveloped bone of the upper limb" ] ], "xref": [ "UMLS:C4025035" ], "is_a": [ "HP:0002817", "HP:0045060" ], "is_obsolete": "", "replace_id": "" }, "HP:0006498": { "name": [ "aplasia / hypoplasia of the patella", "aplasia / hypoplasia of the patella" ], "alt_id": [ "HP:0005006", "HP:0005027", "HP:0005702", "HP:0005729", "HP:0006374" ], "def": "Absence or underdevelopment of the patella.", "synonym": [ [ "absent or hypoplastic patellae", "absent or hypoplastic patella" ], [ "absent / hypoplastic patella", "absent / hypoplastic patella" ], [ "absent / small kneecap", "absent / small kneecap" ], [ "absent / underdeveloped kneecap", "absent / underdevelop kneecap" ], [ "aplastic or hypoplastic patellae", "aplastic or hypoplastic patella" ], [ "hypoplastic or absent patella", "hypoplastic or absent patella" ], [ "patellar aplasia / hypoplasia", "patellar aplasia / hypoplasia" ], [ "small to absent patellae", "small to absent patella" ] ], "xref": [ "MSH:C535568", "UMLS:C1868577" ], "is_a": [ "HP:0003045", "HP:0006493" ], "is_obsolete": "", "replace_id": "" }, "HP:0006499": { "name": [ "abnormality of femoral epiphysis", "abnormality of femoral epiphysis" ], "alt_id": [ "HP:0006412", "HP:0008811" ], "def": "An anomaly of a growth plate of a femur.", "synonym": [ [ "abnormality of thighbone end part", "abnormality of thighbone end part" ] ], "xref": [ "UMLS:C4025034" ], "is_a": [ "HP:0002823", "HP:0006500" ], "is_obsolete": "", "replace_id": "" }, "HP:0006500": { "name": [ "abnormality of lower limb epiphysis morphology", "abnormality of low limb epiphysis morphology" ], "alt_id": [], "def": "An anomaly of one or more epiphyses of one or both legs.", "synonym": [ [ "abnormal shape of end part of lower limb end bone", "abnormal shape of end part of low limb end bone" ], [ "abnormality involving the epiphyses of the lower limbs", "abnormality involve the epiphysis of the low limb" ] ], "xref": [ "UMLS:C4021595" ], "is_a": [ "HP:0002814", "HP:0006505" ], "is_obsolete": "", "replace_id": "" }, "HP:0006501": { "name": [ "aplasia / hypoplasia of the radius", "aplasia / hypoplasia of the radius" ], "alt_id": [ "HP:0005718" ], "def": "A small/hypoplastic or absent/aplastic radius.", "synonym": [ [ "absence or underdevelopment of the radius bone of the arm", "absence or underdevelopment of the radius bone of the arm" ], [ "absent / small radius", "absent / small radius" ], [ "absent / underdeveloped radius", "absent / underdevelop radius" ], [ "radial aplasia / hypoplasia", "radial aplasia / hypoplasia" ] ], "xref": [ "UMLS:C2749463" ], "is_a": [ "HP:0002818", "HP:0006503" ], "is_obsolete": "", "replace_id": "" }, "HP:0006502": { "name": [ "aplasia / hypoplasia involving the carpal bones", "aplasia / hypoplasia involve the carpal bone" ], "alt_id": [], "def": "Absence or underdevelopment of the carpal bones.", "synonym": [ [ "absent / small wrist bones", "absent / small wrist bone" ], [ "absent / underdeveloped wrist bones", "absent / underdeveloped wrist bone" ] ], "xref": [ "UMLS:C4025033" ], "is_a": [ "HP:0001191", "HP:0005927" ], "is_obsolete": "", "replace_id": "" }, "HP:0006503": { "name": [ "aplasia / hypoplasia involving forearm bones", "aplasia / hypoplasia involve forearm bone" ], "alt_id": [], "def": "Absence (due to failure to form) or underdevelopment of one or more forearm bones.", "synonym": [ [ "absent / small forearm bones", "absent / small forearm bone" ], [ "absent / underdeveloped forearm bones", "absent / underdevelop forearm bone" ] ], "xref": [ "UMLS:C4025032" ], "is_a": [ "HP:0006496", "HP:0040072" ], "is_obsolete": "", "replace_id": "" }, "HP:0006504": { "name": [ "obsolete anomaly of the limb diaphyses morphology", "obsolete anomaly of the limb diaphyses morphology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of shaft of long bone of the limbs", "abnormality of shaft of long bone of the limb" ] ], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000940" }, "HP:0006505": { "name": [ "abnormality of limb epiphysis morphology", "abnormality of limb epiphysis morphology" ], "alt_id": [], "def": "An anomaly of one or more epiphyses of a limb.", "synonym": [ [ "abnormal shape of end part of limb bones", "abnormal shape of end part of limb bone" ], [ "abnormality involving the epiphyses of the limbs", "abnormality involve the epiphysis of the limb" ] ], "xref": [ "UMLS:C4021593" ], "is_a": [ "HP:0002813", "HP:0005930" ], "is_obsolete": "", "replace_id": "" }, "HP:0006507": { "name": [ "aplasia / hypoplasia of the humerus", "aplasia / hypoplasia of the humerus" ], "alt_id": [], "def": "Absence (due to failure to form) or underdevelopment of the humerus.", "synonym": [ [ "absent / small long bone in upper arm", "absent / small long bone in upper arm" ], [ "absent / underdeveloped long bone in upper arm", "absent / underdevelop long bone in upper arm" ] ], "xref": [ "UMLS:C4025031" ], "is_a": [ "HP:0003063", "HP:0006496" ], "is_obsolete": "", "replace_id": "" }, "HP:0006508": { "name": [ "abnormality of tibial epiphyses", "abnormality of tibial epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of end part of shinbone", "abnormality of end part of shinbone" ] ], "xref": [ "UMLS:C4025030" ], "is_a": [ "HP:0002992", "HP:0006500" ], "is_obsolete": "", "replace_id": "" }, "HP:0006509": { "name": [ "diverticulosis of trachea", "diverticulosis of trachea" ], "alt_id": [], "def": "Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical).", "synonym": [ [ "paratracheal air cyst", "paratracheal air cyst" ], [ "tracheal diverticulosis", "tracheal diverticulosis" ], [ "tracheal diverticulum", "tracheal diverticulum" ], [ "tracheocele", "tracheocele" ] ], "xref": [ "SNOMEDCT_US:14011008", "UMLS:C0340213" ], "is_a": [ "HP:0002778" ], "is_obsolete": "", "replace_id": "" }, "HP:0006510": { "name": [ "chronic pulmonary obstruction", "chronic pulmonary obstruction" ], "alt_id": [ "HP:0006541" ], "def": "An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.", "synonym": [ [ "chronic obstructive pulmonary disease", "chronic obstructive pulmonary disease" ] ], "xref": [ "MSH:D029424", "SNOMEDCT_US:13645005", "UMLS:C0024117" ], "is_a": [ "HP:0006536" ], "is_obsolete": "", "replace_id": "" }, "HP:0006511": { "name": [ "laryngeal stridor", "laryngeal stridor" ], "alt_id": [], "def": "An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.", "synonym": [ [ "laryngeal stidor", "laryngeal stidor" ] ], "xref": [ "MSH:D007826", "SNOMEDCT_US:406444002", "SNOMEDCT_US:41432000", "SNOMEDCT_US:53787002", "UMLS:C0023066" ], "is_a": [ "HP:0025424" ], "is_obsolete": "", "replace_id": "" }, "HP:0006514": { "name": [ "intraalveolar nodular calcifications", "intraalveolar nodular calcification" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025028" ], "is_a": [ "HP:0010766", "HP:0033137" ], "is_obsolete": "", "replace_id": "" }, "HP:0006515": { "name": [ "interstitial pneumonitis", "interstitial pneumonitis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D017563", "SNOMEDCT_US:64667001", "UMLS:C0206061" ], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0006516": { "name": [ "hypersensitivity pneumonitis", "hypersensitivity pneumonitis" ], "alt_id": [], "def": "Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010).", "synonym": [], "xref": [ "MSH:D000542", "SNOMEDCT_US:37471005", "UMLS:C0002390" ], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0006517": { "name": [ "intraalveolar phospholipid accumulation", "intraalveolar phospholipid accumulation" ], "alt_id": [ "HP:0032982" ], "def": "Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.", "synonym": [ [ "alveolar proteinosis", "alveolar proteinosis" ], [ "detection of pas - positive extracellular material in broncho - alveolar lavage", "detection of pas - positive extracellular material in broncho - alveolar lavage" ], [ "pulmonary alveolar proteinosis", "pulmonary alveolar proteinosis" ] ], "xref": [ "MSH:D011649", "SNOMEDCT_US:10501004", "UMLS:C0034050" ], "is_a": [ "HP:0032973" ], "is_obsolete": "", "replace_id": "" }, "HP:0006518": { "name": [ "pulmonary venous occlusion", "pulmonary venous occlusion" ], "alt_id": [], "def": "Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition.", "synonym": [ [ "pulmonary venoocclusive disease", "pulmonary venoocclusive disease" ], [ "pulmonary venous occlusion", "pulmonary venous occlusion" ], [ "pulmonary venous stenosis", "pulmonary venous stenosis" ] ], "xref": [ "Fyler:3002", "MSH:D011668", "SNOMEDCT_US:89420002", "UMLS:C0034091", "UMLS:C4280802" ], "is_a": [ "HP:0030968" ], "is_obsolete": "", "replace_id": "" }, "HP:0006519": { "name": [ "alveolar cell carcinoma", "alveolar cell carcinoma" ], "alt_id": [ "HP:0006757" ], "def": "Adenocarcinoma of the Bronchus.", "synonym": [], "xref": [ "MSH:D002282", "SNOMEDCT_US:112677002", "SNOMEDCT_US:36310008", "SNOMEDCT_US:373627005", "UMLS:C0007120" ], "is_a": [ "HP:0100552" ], "is_obsolete": "", "replace_id": "" }, "HP:0006520": { "name": [ "progressive pulmonary function impairment", "progressive pulmonary function impairment" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1849570" ], "is_a": [ "HP:0005952" ], "is_obsolete": "", "replace_id": "" }, "HP:0006521": { "name": [ "pulmonary lymphangiectasia", "pulmonary lymphangiectasia" ], "alt_id": [ "HP:0006526", "HP:0006551" ], "def": "Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.", "synonym": [ [ "pulmonary lymphangiectasis", "pulmonary lymphangiectasis" ] ], "xref": [ "UMLS:C1855480" ], "is_a": [ "HP:0006529", "HP:0031842" ], "is_obsolete": "", "replace_id": "" }, "HP:0006522": { "name": [ "repeated pneumothoraces", "repeat pneumothoraces" ], "alt_id": [], "def": "", "synonym": [ [ "repeated pneumothorax", "repeat pneumothorax" ] ], "xref": [ "UMLS:C4025027" ], "is_a": [ "HP:0002107" ], "is_obsolete": "", "replace_id": "" }, "HP:0006524": { "name": [ "tracheobronchial leiomyomatosis", "tracheobronchial leiomyomatosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3806786" ], "is_a": [ "HP:0100552" ], "is_obsolete": "", "replace_id": "" }, "HP:0006525": { "name": [ "obsolete lung segmentation defects", "obsolete lung segmentation defect" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0002101" }, "HP:0006527": { "name": [ "lymphocytic interstitial pneumonia", "lymphocytic interstitial pneumonia" ], "alt_id": [], "def": "Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa.", "synonym": [ [ "lymphocytic interstitial pneumonitis", "lymphocytic interstitial pneumonitis" ], [ "lymphoid interstitial pneumonia", "lymphoid interstitial pneumonia" ], [ "lymphoid interstitial pneumonitis", "lymphoid interstitial pneumonitis" ] ], "xref": [ "MSH:C562489", "SNOMEDCT_US:44274007", "UMLS:C0264511" ], "is_a": [ "HP:0006515", "HP:0033582" ], "is_obsolete": "", "replace_id": "" }, "HP:0006528": { "name": [ "chronic lung disease", "chronic lung disease" ], "alt_id": [], "def": "According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.", "synonym": [ [ "chronic lung disease", "chronic lung disease" ] ], "xref": [ "SNOMEDCT_US:413839001", "UMLS:C0746102" ], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0006529": { "name": [ "abnormal pulmonary lymphatics", "abnormal pulmonary lymphatics" ], "alt_id": [], "def": "An abnormality of the pulmonary lymphatic chain.", "synonym": [], "xref": [ "UMLS:C4025026" ], "is_a": [ "HP:0002088", "HP:0100763" ], "is_obsolete": "", "replace_id": "" }, "HP:0006530": { "name": [ "abnormal pulmonary interstitial morphology", "abnormal pulmonary interstitial morphology" ], "alt_id": [ "HP:0006513", "HP:0006547" ], "def": "Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.", "synonym": [ [ "abnormal lung parenchyma morphology", "abnormal lung parenchyma morphology" ], [ "abnormality in area between air sacs in lung", "abnormality in area between air sac in lung" ], [ "interstitial lung disease", "interstitial lung disease" ], [ "interstitial pulmonary disease", "interstitial pulmonary disease" ] ], "xref": [ "MSH:D017563", "SNOMEDCT_US:233703007", "UMLS:C0206062" ], "is_a": [ "HP:0002088" ], "is_obsolete": "", "replace_id": "" }, "HP:0006531": { "name": [ "pleural lymphangiectasia", "pleural lymphangiectasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1856139" ], "is_a": [ "HP:0002103", "HP:0031842" ], "is_obsolete": "", "replace_id": "" }, "HP:0006532": { "name": [ "recurrent pneumonia", "recurrent pneumonia" ], "alt_id": [ "HP:0002095", "HP:0002096" ], "def": "An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.", "synonym": [ [ "multiple pulmonary infections", "multiple pulmonary infection" ], [ "pneumonia , recurrent", "pneumonia , recurrent" ], [ "pneumonia , recurrent episodes", "pneumonia , recurrent episode" ], [ "pulmonary infection", "pulmonary infection" ], [ "pulmonary infections", "pulmonary infection" ], [ "pulmonary infections , recurrent", "pulmonary infection , recurrent" ], [ "recurrent pneumonia", "recurrent pneumonia" ], [ "recurrent pulmonary infections", "recurrent pulmonary infection" ] ], "xref": [ "SNOMEDCT_US:128601007", "SNOMEDCT_US:699014000", "UMLS:C0694550", "UMLS:C0748140", "UMLS:C0876973", "UMLS:C1859117" ], "is_a": [ "HP:0002090", "HP:0002783" ], "is_obsolete": "", "replace_id": "" }, "HP:0006533": { "name": [ "bronchodysplasia", "bronchodysplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025025" ], "is_a": [ "HP:0025426" ], "is_obsolete": "", "replace_id": "" }, "HP:0006535": { "name": [ "recurrent intrapulmonary hemorrhage", "recurrent intrapulmonary hemorrhage" ], "alt_id": [], "def": "A recurrent hemorrhage occurring within the lung.", "synonym": [ [ "recurrent bleeding into lungs", "recurrent bleed into lung" ], [ "recurrent intrapulmonary haemorrhage", "recurrent intrapulmonary haemorrhage" ], [ "recurrent pulmonary haemorrhage", "recurrent pulmonary haemorrhage" ], [ "recurrent pulmonary hemorrhage", "recurrent pulmonary hemorrhage" ] ], "xref": [ "UMLS:C3805919" ], "is_a": [ "HP:0040223" ], "is_obsolete": "", "replace_id": "" }, "HP:0006536": { "name": [ "airway obstruction", "airway obstruction" ], "alt_id": [ "HP:0006512" ], "def": "Obstruction of conducting airways of the lung.", "synonym": [ [ "obstructive lung disease", "obstructive lung disease" ], [ "pulmonary obstruction", "pulmonary obstruction" ] ], "xref": [ "MSH:D008173", "UMLS:C0600260" ], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0006538": { "name": [ "recurrent bronchopulmonary infections", "recurrent bronchopulmonary infection" ], "alt_id": [], "def": "An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.", "synonym": [ [ "recurrent infections in bronchi and lungs", "recurrent infection in bronchus and lung" ] ], "xref": [ "UMLS:C2169795" ], "is_a": [ "HP:0002205" ], "is_obsolete": "", "replace_id": "" }, "HP:0006539": { "name": [ "bronchial cartilage hypoplasia", "bronchial cartilage hypoplasia" ], "alt_id": [], "def": "", "synonym": [ [ "underdevelopment of the bronical cartilage", "underdevelopment of the bronical cartilage" ] ], "xref": [ "UMLS:C4025024" ], "is_a": [ "HP:0025426" ], "is_obsolete": "", "replace_id": "" }, "HP:0006541": { "name": [ "obsolete chronic obstructive airway disease from birth", "obsolete chronic obstructive airway disease from birth" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0006510" }, "HP:0006543": { "name": [ "cardiorespiratory arrest", "cardiorespiratory arrest" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D006323", "SNOMEDCT_US:410430005", "UMLS:C0600228" ], "is_a": [ "HP:0005943" ], "is_obsolete": "", "replace_id": "" }, "HP:0006544": { "name": [ "extrapulmonary sequestrum", "extrapulmonary sequestrum" ], "alt_id": [], "def": "A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree.", "synonym": [ [ "diaphragmatic sequestrum", "diaphragmatic sequestrum" ] ], "xref": [ "UMLS:C4020814", "UMLS:C4025023" ], "is_a": [ "HP:0100632" ], "is_obsolete": "", "replace_id": "" }, "HP:0006548": { "name": [ "pulmonary arteriovenous malformation", "pulmonary arteriovenous malformation" ], "alt_id": [ "HP:0002114", "HP:0006537" ], "def": "Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.", "synonym": [ [ "pulmonary av malformation", "pulmonary av malformation" ] ], "xref": [ "Fyler:2210", "UMLS:C1857690" ], "is_a": [ "HP:0004930", "HP:0100026" ], "is_obsolete": "", "replace_id": "" }, "HP:0006549": { "name": [ "unilateral primary pulmonary dysgenesis", "unilateral primary pulmonary dysgenesis" ], "alt_id": [], "def": "", "synonym": [ [ "primary pulmonary dysgenesis , unilateral", "primary pulmonary dysgenesis , unilateral" ] ], "xref": [ "UMLS:C4021592" ], "is_a": [ "HP:4000059" ], "is_obsolete": "", "replace_id": "" }, "HP:0006552": { "name": [ "fibrocystic lung disease", "fibrocystic lung disease" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1397290" ], "is_a": [ "HP:0005948" ], "is_obsolete": "", "replace_id": "" }, "HP:0006554": { "name": [ "acute hepatic failure", "acute hepatic failure" ], "alt_id": [ "HP:0006556" ], "def": "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.", "synonym": [ [ "acute liver failure", "acute liver failure" ] ], "xref": [ "MSH:D017114", "SNOMEDCT_US:197270009", "SNOMEDCT_US:235884008", "UMLS:C0162557" ], "is_a": [ "HP:0001399" ], "is_obsolete": "", "replace_id": "" }, "HP:0006555": { "name": [ "diffuse hepatic steatosis", "diffuse hepatic steatosis" ], "alt_id": [], "def": "A diffuse form of hepatic steatosis.", "synonym": [ [ "hepatic steatosis , diffuse", "hepatic steatosis , diffuse" ] ], "xref": [ "UMLS:C1849686" ], "is_a": [ "HP:0001397" ], "is_obsolete": "", "replace_id": "" }, "HP:0006557": { "name": [ "polycystic liver disease", "polycystic liver disease" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C536330", "SNOMEDCT_US:72925005", "UMLS:C0158683" ], "is_a": [ "HP:0006706" ], "is_obsolete": "", "replace_id": "" }, "HP:0006558": { "name": [ "decreased mitochondrial complex iii activity in liver tissue", "decreased mitochondrial complex iii activity in liver tissue" ], "alt_id": [], "def": "Decreased activity of complex III of the mitochondrion in the liver.", "synonym": [], "xref": [ "UMLS:C4025022" ], "is_a": [ "HP:0025155" ], "is_obsolete": "", "replace_id": "" }, "HP:0006559": { "name": [ "hepatic calcification", "hepatic calcification" ], "alt_id": [], "def": "The presence of abnormal calcium deposition in the liver.", "synonym": [ [ "liver calcifications", "liver calcification" ] ], "xref": [ "UMLS:C1696466" ], "is_a": [ "HP:0010766", "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0006560": { "name": [ "biliary hyperplasia", "biliary hyperplasia" ], "alt_id": [], "def": "Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.", "synonym": [ [ "bile duct hyperplasia", "bile duct hyperplasia" ] ], "xref": [ "UMLS:C3672440", "UMLS:C3686778" ], "is_a": [ "HP:0012440" ], "is_obsolete": "", "replace_id": "" }, "HP:0006561": { "name": [ "lipid accumulation in hepatocytes", "lipid accumulation in hepatocytes" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1837257" ], "is_a": [ "HP:0031137" ], "is_obsolete": "", "replace_id": "" }, "HP:0006562": { "name": [ "viral hepatitis", "viral hepatitis" ], "alt_id": [], "def": "Inflammation of the liver due to infection with a virus.", "synonym": [], "xref": [ "SNOMEDCT_US:3738000", "UMLS:C0042721" ], "is_a": [ "HP:0012115" ], "is_obsolete": "", "replace_id": "" }, "HP:0006563": { "name": [ "malformation of the hepatic ductal plate", "malformation of the hepatic ductal plate" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1857519" ], "is_a": [ "HP:0004297" ], "is_obsolete": "", "replace_id": "" }, "HP:0006564": { "name": [ "fluctuating hepatomegaly", "fluctuate hepatomegaly" ], "alt_id": [], "def": "Intermittently increased size of the liver.", "synonym": [], "xref": [ "UMLS:C1835881" ], "is_a": [ "HP:0002240" ], "is_obsolete": "", "replace_id": "" }, "HP:0006565": { "name": [ "increased hepatocellular lipid droplets", "increase hepatocellular lipid droplet" ], "alt_id": [], "def": "An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.", "synonym": [], "xref": [ "UMLS:C4025021" ], "is_a": [ "HP:0006561" ], "is_obsolete": "", "replace_id": "" }, "HP:0006566": { "name": [ "neonatal cholestatic liver disease", "neonatal cholestatic liver disease" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1859162" ], "is_a": [ "HP:0002611" ], "is_obsolete": "", "replace_id": "" }, "HP:0006568": { "name": [ "increased hepatic glycogen content", "increase hepatic glycogen content" ], "alt_id": [], "def": "An increase in the amount of glycogen stored in hepatocytes compared to normal.", "synonym": [ [ "increased liver glycogen content", "increase liver glycogen content" ] ], "xref": [ "UMLS:C1856285" ], "is_a": [ "HP:0500030" ], "is_obsolete": "", "replace_id": "" }, "HP:0006571": { "name": [ "reduced number of intrahepatic bile ducts", "reduced number of intrahepatic bile duct" ], "alt_id": [], "def": "The presence of reduced numbers of intrahepatic bile duct than normal.", "synonym": [ [ "hepatic ductopenia", "hepatic ductopenia" ], [ "intrahepatic duct deficiency", "intrahepatic duct deficiency" ] ], "xref": [ "UMLS:C1861621", "UMLS:C4021591" ], "is_a": [ "HP:0011040" ], "is_obsolete": "", "replace_id": "" }, "HP:0006572": { "name": [ "subacute progressive viral hepatitis", "subacute progressive viral hepatitis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1861901" ], "is_a": [ "HP:0006562" ], "is_obsolete": "", "replace_id": "" }, "HP:0006573": { "name": [ "acute hepatic steatosis", "acute hepatic steatosis" ], "alt_id": [], "def": "An acute form of hepatic steatosis.", "synonym": [ [ "acute fatty liver", "acute fatty liver" ] ], "xref": [ "UMLS:C4025020" ], "is_a": [ "HP:0001397" ], "is_obsolete": "", "replace_id": "" }, "HP:0006574": { "name": [ "hepatic arteriovenous malformation", "hepatic arteriovenous malformation" ], "alt_id": [ "HP:0006569" ], "def": "", "synonym": [ [ "liver arteriovenous malformation", "liver arteriovenous malformation" ] ], "xref": [ "SNOMEDCT_US:84150000", "UMLS:C0520557" ], "is_a": [ "HP:0006707", "HP:0100026" ], "is_obsolete": "", "replace_id": "" }, "HP:0006575": { "name": [ "intrahepatic cholestasis with episodic jaundice", "intrahepatic cholestasis with episodic jaundice" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025019" ], "is_a": [ "HP:0001406" ], "is_obsolete": "", "replace_id": "" }, "HP:0006576": { "name": [ "hepatic vascular malformations", "hepatic vascular malformation" ], "alt_id": [], "def": "", "synonym": [ [ "liver vascular malformations", "liver vascular malformation" ] ], "xref": [ "UMLS:C1861790" ], "is_a": [ "HP:0006707" ], "is_obsolete": "", "replace_id": "" }, "HP:0006577": { "name": [ "macronodular cirrhosis", "macronodular cirrhosis" ], "alt_id": [], "def": "A type of cirrhosis characterized by the presence of large regenerative nodules.", "synonym": [], "xref": [ "SNOMEDCT_US:43904005", "SNOMEDCT_US:86454000", "UMLS:C2004456" ], "is_a": [ "HP:0001394" ], "is_obsolete": "", "replace_id": "" }, "HP:0006579": { "name": [ "prolonged neonatal jaundice", "prolonged neonatal jaundice" ], "alt_id": [ "HP:0000986" ], "def": "Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.", "synonym": [ [ "jaundice , neonatal", "jaundice , neonatal" ], [ "neonatal jaundice", "neonatal jaundice" ], [ "prolonged yellowing of skin in newborn", "prolonged yellowing of skin in newborn" ] ], "xref": [ "MSH:D007567", "SNOMEDCT_US:387712008", "UMLS:C0022353", "UMLS:C1859236" ], "is_a": [ "HP:0000952" ], "is_obsolete": "", "replace_id": "" }, "HP:0006580": { "name": [ "portal fibrosis", "portal fibrosis" ], "alt_id": [], "def": "Fibroblast proliferation and fiber expansion from the portal areas to the lobule.", "synonym": [ [ "portal fibrosis shown on biopsy", "portal fibrosis show on biopsy" ] ], "xref": [ "UMLS:C2677002", "UMLS:C3805083" ], "is_a": [ "HP:0004297" ], "is_obsolete": "", "replace_id": "" }, "HP:0006581": { "name": [ "depletion of mitochondrial dna in liver", "depletion of mitochondrial dna in liver" ], "alt_id": [], "def": "An abnormal reduction in the number of mitochondria in hepatocytes.", "synonym": [], "xref": [ "UMLS:C4025018" ], "is_a": [ "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0006582": { "name": [ "reye syndrome - like episodes", "reye syndrome - like episode" ], "alt_id": [], "def": "Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure.", "synonym": [], "xref": [ "UMLS:C1850413" ], "is_a": [ "HP:0025155" ], "is_obsolete": "", "replace_id": "" }, "HP:0006583": { "name": [ "fatal liver failure in infancy", "fatal liver failure in infancy" ], "alt_id": [], "def": "", "synonym": [ [ "fatal liver failure in infancy", "fatal liver failure in infancy" ] ], "xref": [ "UMLS:C4025017" ], "is_a": [ "HP:0001399" ], "is_obsolete": "", "replace_id": "" }, "HP:0006584": { "name": [ "small abnormally formed scapulae", "small abnormally form scapula" ], "alt_id": [ "HP:0006629" ], "def": "", "synonym": [ [ "small abnormally formed scapula", "small abnormally form scapula" ], [ "small abnormally formed shoulder blade", "small abnormally form shoulder blade" ] ], "xref": [ "UMLS:C1861226" ], "is_a": [ "HP:0000882" ], "is_obsolete": "", "replace_id": "" }, "HP:0006585": { "name": [ "congenital pseudoarthrosis of the clavicle", "congenital pseudoarthrosis of the clavicle" ], "alt_id": [ "HP:0006612", "HP:0006661" ], "def": "The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle.", "synonym": [ [ "bipartite clavicle", "bipartite clavicle" ], [ "clavicle pseudoarthrosis", "clavicle pseudoarthrosis" ], [ "pseudoarthrosis of clavicle", "pseudoarthrosis of clavicle" ] ], "xref": [ "SNOMEDCT_US:249685004", "SNOMEDCT_US:249690001", "UMLS:C0426806", "UMLS:C0426811" ], "is_a": [ "HP:0005864", "HP:0006710" ], "is_obsolete": "", "replace_id": "" }, "HP:0006587": { "name": [ "straight clavicles", "straight clavicle" ], "alt_id": [], "def": "An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .", "synonym": [ [ "straight collarbone", "straight collarbone" ] ], "xref": [ "UMLS:C4025016" ], "is_a": [ "HP:0000889" ], "is_obsolete": "", "replace_id": "" }, "HP:0006589": { "name": [ "flaring of lower rib cage", "flaring of low rib cage" ], "alt_id": [], "def": "", "synonym": [ [ "flaring of lower rib cage", "flaring of low rib cage" ] ], "xref": [ "UMLS:C1855196" ], "is_a": [ "HP:0000904" ], "is_obsolete": "", "replace_id": "" }, "HP:0006590": { "name": [ "premature sternal synostosis", "premature sternal synostosis" ], "alt_id": [], "def": "Prematurely closed sternal sutures.", "synonym": [ [ "prematurely closed sternal sutures", "prematurely close sternal suture" ] ], "xref": [ "UMLS:C4021590" ], "is_a": [ "HP:0006714" ], "is_obsolete": "", "replace_id": "" }, "HP:0006591": { "name": [ "absent glenoid fossa", "absent glenoid fossa" ], "alt_id": [], "def": "Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.", "synonym": [ [ "aplasia of the glenoid fossa", "aplasia of the glenoid fossa" ] ], "xref": [ "UMLS:C4021589" ], "is_a": [ "HP:0011912" ], "is_obsolete": "", "replace_id": "" }, "HP:0006593": { "name": [ "anomalous rib insertion to vertebrae", "anomalous rib insertion to vertebrae" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1861704" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0006595": { "name": [ "scapulohumeral synostosis", "scapulohumeral synostosis" ], "alt_id": [ "HP:0010792" ], "def": "Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.", "synonym": [ [ "fusion of shoulder blade to long bone in upper arm", "fusion of shoulder blade to long bone in upper arm" ], [ "humero - scapulo synostosis", "humero - scapulo synostosis" ], [ "humeroscapular synostosis", "humeroscapular synostosis" ], [ "synostosis of shoulder joint", "synostosis of shoulder joint" ] ], "xref": [ "UMLS:C1865362" ], "is_a": [ "HP:0000782", "HP:0001376", "HP:0003043", "HP:0003063", "HP:0100238" ], "is_obsolete": "", "replace_id": "" }, "HP:0006596": { "name": [ "restricted chest movement", "restrict chest movement" ], "alt_id": [], "def": "", "synonym": [ [ "restricted chest movement", "restrict chest movement" ] ], "xref": [ "UMLS:C4025015" ], "is_a": [ "HP:0001376", "HP:0001547" ], "is_obsolete": "", "replace_id": "" }, "HP:0006597": { "name": [ "diaphragmatic paralysis", "diaphragmatic paralysis" ], "alt_id": [], "def": "The presence of a paralyzed diaphragm.", "synonym": [ [ "diaphragmatic paralysis", "diaphragmatic paralysis" ], [ "paralysed diaphragm", "paralyse diaphragm" ], [ "paralyzed diaphragm", "paralyze diaphragm" ] ], "xref": [ "MSH:D012133", "SNOMEDCT_US:64228003", "UMLS:C0035232" ], "is_a": [ "HP:0003470", "HP:0009113" ], "is_obsolete": "", "replace_id": "" }, "HP:0006598": { "name": [ "irregular ossification at anterior rib ends", "irregular ossification at anterior rib end" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850083" ], "is_a": [ "HP:0012306" ], "is_obsolete": "", "replace_id": "" }, "HP:0006599": { "name": [ "medial widening of clavicles", "medial widening of clavicle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1866729" ], "is_a": [ "HP:0000889" ], "is_obsolete": "", "replace_id": "" }, "HP:0006600": { "name": [ "progressive calcification of costochondral cartilage", "progressive calcification of costochondral cartilage" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1968577" ], "is_a": [ "HP:0000919", "HP:0100593" ], "is_obsolete": "", "replace_id": "" }, "HP:0006603": { "name": [ "flared , irregular rib ends", "flare , irregular rib end" ], "alt_id": [], "def": "", "synonym": [ [ "flared , irregular rib ends", "flare , irregular rib end" ] ], "xref": [ "UMLS:C1865833" ], "is_a": [ "HP:0000887" ], "is_obsolete": "", "replace_id": "" }, "HP:0006606": { "name": [ "irregular chondrocostal junctions", "irregular chondrocostal junction" ], "alt_id": [ "HP:0006658" ], "def": "Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.", "synonym": [ [ "irregular costochondral margins", "irregular costochondral margin" ] ], "xref": [ "UMLS:C1861199" ], "is_a": [ "HP:0000919" ], "is_obsolete": "", "replace_id": "" }, "HP:0006607": { "name": [ "precocious costochondral ossification", "precocious costochondral ossification" ], "alt_id": [], "def": "Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage.", "synonym": [], "xref": [ "UMLS:C1849049" ], "is_a": [ "HP:0000919", "HP:0004348", "HP:0012306" ], "is_obsolete": "", "replace_id": "" }, "HP:0006608": { "name": [ "midclavicular hypoplasia", "midclavicular hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the middle portion of the clavicle.", "synonym": [ [ "underdeveloped middle portion of the collarbone", "underdeveloped middle portion of the collarbone" ] ], "xref": [ "UMLS:C1844530" ], "is_a": [ "HP:0000894" ], "is_obsolete": "", "replace_id": "" }, "HP:0006610": { "name": [ "wide intermamillary distance", "wide intermamillary distance" ], "alt_id": [ "HP:0000779", "HP:0001554" ], "def": "A larger than usual distance between the left and right nipple.", "synonym": [ [ "wide - spaced nipples", "wide - space nipple" ], [ "widely spaced nipples", "widely space nipple" ], [ "widely - spaced nipples", "widely - space nipple" ] ], "xref": [ "SNOMEDCT_US:423230008", "UMLS:C1827524" ], "is_a": [ "HP:0040157" ], "is_obsolete": "", "replace_id": "" }, "HP:0006611": { "name": [ "decreased number of sternal ossification centers", "decreased number of sternal ossification center" ], "alt_id": [], "def": "A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms.", "synonym": [ [ "decreased number of sternal ossification centres", "decreased number of sternal ossification centre" ] ], "xref": [ "UMLS:C1856223" ], "is_a": [ "HP:0011863" ], "is_obsolete": "", "replace_id": "" }, "HP:0006615": { "name": [ "absent in utero rib ossification", "absent in utero rib ossification" ], "alt_id": [], "def": "Lack of formation and mineralization of the ribs in utero.", "synonym": [ [ "absent rib calcification in utero", "absent rib calcification in utero" ] ], "xref": [ "UMLS:C1842695" ], "is_a": [ "HP:0012306" ], "is_obsolete": "", "replace_id": "" }, "HP:0006619": { "name": [ "anterior rib punctate calcifications", "anterior rib punctate calcification" ], "alt_id": [], "def": "Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs.", "synonym": [], "xref": [ "UMLS:C1859120" ], "is_a": [ "HP:0012306", "HP:0040059" ], "is_obsolete": "", "replace_id": "" }, "HP:0006623": { "name": [ "costochondral joint sclerosis", "costochondral joint sclerosis" ], "alt_id": [], "def": "Abnormal increase in density of the tissue at the costochondral junctions.", "synonym": [ [ "sclerotic costochondral joints", "sclerotic costochondral joint" ] ], "xref": [ "UMLS:C4021588" ], "is_a": [ "HP:0000919" ], "is_obsolete": "", "replace_id": "" }, "HP:0006625": { "name": [ "multifocal breast carcinoma", "multifocal breast carcinoma" ], "alt_id": [], "def": "Breast carcinoma that is bilateral or otherwise multifocal.", "synonym": [ [ "multifocal breast cancer", "multifocal breast cancer" ] ], "xref": [ "UMLS:C2986662" ], "is_a": [ "HP:0003002" ], "is_obsolete": "", "replace_id": "" }, "HP:0006628": { "name": [ "absent sternal ossification", "absent sternal ossification" ], "alt_id": [ "HP:0006654", "HP:0006666" ], "def": "Lack of formation of mineralized bony tissue of the sternum.", "synonym": [ [ "absent bone maturation in sternum", "absent bone maturation in sternum" ], [ "absent sternal mineralization", "absent sternal mineralization" ], [ "lack of sternal ossification", "lack of sternal ossification" ] ], "xref": [ "UMLS:C1857074", "UMLS:C4280443" ], "is_a": [ "HP:0006714", "HP:0011863" ], "is_obsolete": "", "replace_id": "" }, "HP:0006631": { "name": [ "hypoplastic distal segments of scapulae", "hypoplastic distal segment of scapula" ], "alt_id": [], "def": "", "synonym": [ [ "small distal segments of the shoulder blade", "small distal segment of the shoulder blade" ], [ "small outermost segments of shoulder blade", "small outermost segment of shoulder blade" ], [ "underdeveloped outermost segments of shoulder blade", "underdeveloped outermost segment of shoulder blade" ] ], "xref": [ "UMLS:C4025014" ], "is_a": [ "HP:0000882" ], "is_obsolete": "", "replace_id": "" }, "HP:0006633": { "name": [ "glenoid fossa hypoplasia", "glenoid fossa hypoplasia" ], "alt_id": [ "HP:0006632" ], "def": "Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.", "synonym": [ [ "glenoid hypoplasia", "glenoid hypoplasia" ], [ "hypoplastic glenoid fossa", "hypoplastic glenoid fossa" ] ], "xref": [ "UMLS:C1834384" ], "is_a": [ "HP:0011912" ], "is_obsolete": "", "replace_id": "" }, "HP:0006634": { "name": [ "osteosclerosis of ribs", "osteosclerosis of rib" ], "alt_id": [], "def": "Osteosclerosis of ribs (increased density related to increased bone mass).", "synonym": [ [ "increased bone density in ribs", "increase bone density in rib" ] ], "xref": [ "UMLS:C4025013" ], "is_a": [ "HP:0012306" ], "is_obsolete": "", "replace_id": "" }, "HP:0006637": { "name": [ "sternal punctate calcifications", "sternal punctate calcification" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1859121" ], "is_a": [ "HP:0000766", "HP:0010766" ], "is_obsolete": "", "replace_id": "" }, "HP:0006638": { "name": [ "midclavicular aplasia", "midclavicular aplasia" ], "alt_id": [], "def": "Developmental defect resulting in congenital absence of the middle portion of the clavicle.", "synonym": [ [ "missing middle part of collarbone", "miss middle part of collarbone" ] ], "xref": [ "UMLS:C1844529" ], "is_a": [ "HP:0006710" ], "is_obsolete": "", "replace_id": "" }, "HP:0006640": { "name": [ "multiple rib fractures", "multiple rib fracture" ], "alt_id": [], "def": "More than one fracture of the ribs.", "synonym": [ [ "multiple rib fractures", "multiple rib fracture" ] ], "xref": [ "SNOMEDCT_US:1261007", "UMLS:C0272567" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0006641": { "name": [ "prominent floating ribs", "prominent float rib" ], "alt_id": [], "def": "", "synonym": [ [ "prominent floating ribs", "prominent float rib" ] ], "xref": [ "UMLS:C4025012" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0006642": { "name": [ "large sternal ossification centers", "large sternal ossification center" ], "alt_id": [], "def": "", "synonym": [ [ "large sternal ossification centres", "large sternal ossification centre" ] ], "xref": [ "UMLS:C1865241" ], "is_a": [ "HP:0011863" ], "is_obsolete": "", "replace_id": "" }, "HP:0006643": { "name": [ "fused sternal ossification centers", "fuse sternal ossification center" ], "alt_id": [], "def": "", "synonym": [ [ "fused sternal ossification centres", "fuse sternal ossification centre" ] ], "xref": [ "UMLS:C1859376" ], "is_a": [ "HP:0011863" ], "is_obsolete": "", "replace_id": "" }, "HP:0006644": { "name": [ "thoracic dysplasia", "thoracic dysplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1406921" ], "is_a": [ "HP:0001547" ], "is_obsolete": "", "replace_id": "" }, "HP:0006645": { "name": [ "thin clavicles", "thin clavicle" ], "alt_id": [], "def": "Abnormally reduced diameter (cross section) of the clavicles.", "synonym": [ [ "thin collarbone", "thin collarbone" ] ], "xref": [ "SNOMEDCT_US:298764003", "UMLS:C0575535" ], "is_a": [ "HP:0000889" ], "is_obsolete": "", "replace_id": "" }, "HP:0006646": { "name": [ "costal cartilage calcification", "costal cartilage calcification" ], "alt_id": [ "HP:0006662" ], "def": "Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax.", "synonym": [ [ "cartilaginous ossification of rib", "cartilaginous ossification of rib" ] ], "xref": [ "UMLS:C1855608" ], "is_a": [ "HP:0012306", "HP:0100593" ], "is_obsolete": "", "replace_id": "" }, "HP:0006647": { "name": [ "congenital microthorax", "congenital microthorax" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025011" ], "is_a": [ "HP:0005257" ], "is_obsolete": "", "replace_id": "" }, "HP:0006649": { "name": [ "costochondral pain", "costochondral pain" ], "alt_id": [], "def": "Chest wall pain in the area of the costochondral junctions.", "synonym": [ [ "costochondral junction pain", "costochondral junction pain" ] ], "xref": [ "UMLS:C4021587" ], "is_a": [ "HP:0000919", "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0006650": { "name": [ "thickening of the lateral border of the scapula", "thickening of the lateral border of the scapula" ], "alt_id": [], "def": "", "synonym": [ [ "thickening of the lateral border of the shoulder blade", "thickening of the lateral border of the shoulder blade" ] ], "xref": [ "UMLS:C1834383" ], "is_a": [ "HP:0000782" ], "is_obsolete": "", "replace_id": "" }, "HP:0006655": { "name": [ "rib segmentation abnormalities", "rib segmentation abnormality" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1968999" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0006657": { "name": [ "hypoplasia of first ribs", "hypoplasia of first rib" ], "alt_id": [ "HP:0006614", "HP:0006653" ], "def": "", "synonym": [ [ "hypoplastic first rib", "hypoplastic first rib" ], [ "hypoplastic first ribs", "hypoplastic first rib" ], [ "small first rib", "small first rib" ], [ "underdeveloped first rib", "underdeveloped first rib" ] ], "xref": [ "UMLS:C1834386" ], "is_a": [ "HP:0000773" ], "is_obsolete": "", "replace_id": "" }, "HP:0006659": { "name": [ "internally rotated shoulders", "internally rotate shoulder" ], "alt_id": [], "def": "", "synonym": [ [ "internally rotated shoulders", "internally rotate shoulder" ] ], "xref": [ "UMLS:C1862491" ], "is_a": [ "HP:0003043" ], "is_obsolete": "", "replace_id": "" }, "HP:0006660": { "name": [ "aplastic clavicle", "aplastic clavicle" ], "alt_id": [], "def": "Absence of the clavicles as a developmental defect.", "synonym": [ [ "absent clavicles", "absent clavicle" ], [ "absent collarbone", "absent collarbone" ], [ "aplastic clavicles", "aplastic clavicle" ] ], "xref": [ "UMLS:C1857665" ], "is_a": [ "HP:0006710" ], "is_obsolete": "", "replace_id": "" }, "HP:0006665": { "name": [ "coat hanger sign of ribs", "coat hanger sign of rib" ], "alt_id": [], "def": "An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger).", "synonym": [ [ "coat hanger sign of ribs", "coat hanger sign of rib" ] ], "xref": [ "UMLS:C4025010" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0006668": { "name": [ "twelfth rib hypoplasia", "twelfth rib hypoplasia" ], "alt_id": [], "def": "", "synonym": [ [ "small twelfth rib", "small twelfth rib" ], [ "underdeveloped twelfth rib", "underdeveloped twelfth rib" ] ], "xref": [ "UMLS:C1859361" ], "is_a": [ "HP:0000773" ], "is_obsolete": "", "replace_id": "" }, "HP:0006670": { "name": [ "impaired myocardial contractility", "impaired myocardial contractility" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025009" ], "is_a": [ "HP:0006673" ], "is_obsolete": "", "replace_id": "" }, "HP:0006671": { "name": [ "paroxysmal atrial tachycardia", "paroxysmal atrial tachycardia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:195069001", "UMLS:C0030587" ], "is_a": [ "HP:0004763" ], "is_obsolete": "", "replace_id": "" }, "HP:0006673": { "name": [ "reduced systolic function", "reduce systolic function" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025008" ], "is_a": [ "HP:0011025" ], "is_obsolete": "", "replace_id": "" }, "HP:0006677": { "name": [ "prolonged qrs complex", "prolonged qrs complex" ], "alt_id": [], "def": "Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.", "synonym": [ [ "prolonged qrs complex on ekg", "prolonged qrs complex on ekg" ] ], "xref": [ "SNOMEDCT_US:991002", "UMLS:C0235475" ], "is_a": [ "HP:0025074" ], "is_obsolete": "", "replace_id": "" }, "HP:0006679": { "name": [ "granulomatous coronary arteritis", "granulomatous coronary arteritis" ], "alt_id": [], "def": "Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.", "synonym": [], "xref": [ "UMLS:C4025007" ], "is_a": [ "HP:0006704", "HP:0012089" ], "is_obsolete": "", "replace_id": "" }, "HP:0006681": { "name": [ "absent atrioventricular node", "absent atrioventricular node" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025006" ], "is_a": [ "HP:0001678" ], "is_obsolete": "", "replace_id": "" }, "HP:0006682": { "name": [ "premature ventricular contraction", "premature ventricular contraction" ], "alt_id": [ "HP:0006678" ], "def": "Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.", "synonym": [ [ "extra heart beat", "extra heart beat" ], [ "missed heartbeat", "miss heartbeat" ], [ "premature ventricular beat", "premature ventricular beat" ], [ "premature ventricular contractions", "premature ventricular contraction" ], [ "skipped heartbeat", "skip heartbeat" ], [ "ventricular ectopics", "ventricular ectopics" ], [ "ventricular extrasystoles", "ventricular extrasystole" ], [ "ventricular premature beat", "ventricular premature beat" ] ], "xref": [ "MSH:D018879", "SNOMEDCT_US:17338001", "SNOMEDCT_US:251175005", "UMLS:C0151636" ], "is_a": [ "HP:0004308" ], "is_obsolete": "", "replace_id": "" }, "HP:0006683": { "name": [ "abnormal ventricular filling", "abnormal ventricular filling" ], "alt_id": [], "def": "An abnormality of filling of a ventricle with blood during diastole.", "synonym": [], "xref": [ "UMLS:C4025005" ], "is_a": [ "HP:0030872" ], "is_obsolete": "", "replace_id": "" }, "HP:0006684": { "name": [ "ventricular preexcitation with multiple accessory pathways", "ventricular preexcitation with multiple accessory pathway" ], "alt_id": [], "def": "A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction.", "synonym": [], "xref": [ "UMLS:C4025004" ], "is_a": [ "HP:0004309" ], "is_obsolete": "", "replace_id": "" }, "HP:0006685": { "name": [ "endocardial fibrosis", "endocardial fibrosis" ], "alt_id": [ "HP:0005169" ], "def": "The presence of excessive connective tissue in the endocardium.", "synonym": [ [ "endomyocardial fibrosis", "endomyocardial fibrosis" ] ], "xref": [ "MSH:D004719", "SNOMEDCT_US:398716006", "UMLS:C0553980" ], "is_a": [ "HP:0004306" ], "is_obsolete": "", "replace_id": "" }, "HP:0006687": { "name": [ "aortic tortuosity", "aortic tortuosity" ], "alt_id": [], "def": "Abnormal tortuous (i.e., twisted) form of the aorta.", "synonym": [], "xref": [ "UMLS:C4025003" ], "is_a": [ "HP:0001679" ], "is_obsolete": "", "replace_id": "" }, "HP:0006688": { "name": [ "paroxysmal tachycardia", "paroxysmal tachycardia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D013614", "SNOMEDCT_US:12026006", "UMLS:C0039236" ], "is_a": [ "HP:0001649" ], "is_obsolete": "", "replace_id": "" }, "HP:0006689": { "name": [ "bacterial endocarditis", "bacterial endocarditis" ], "alt_id": [], "def": "A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves.", "synonym": [ [ "infective endocarditis", "infective endocarditis" ] ], "xref": [ "MSH:D004697", "SNOMEDCT_US:301183007", "UMLS:C0014121" ], "is_a": [ "HP:0100584" ], "is_obsolete": "", "replace_id": "" }, "HP:0006690": { "name": [ "myocardial calcification", "myocardial calcification" ], "alt_id": [], "def": "Calcium deposition in the myocardium.", "synonym": [ [ "calcified myocardium", "calcified myocardium" ] ], "xref": [ "Fyler:1889", "UMLS:C1096561" ], "is_a": [ "HP:0001713", "HP:0011915" ], "is_obsolete": "", "replace_id": "" }, "HP:0006691": { "name": [ "pulmonic valve myxoma", "pulmonic valve myxoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4025002" ], "is_a": [ "HP:0001641" ], "is_obsolete": "", "replace_id": "" }, "HP:0006692": { "name": [ "short chordae tendineae of the tricuspid valve", "short chordae tendineae of the tricuspid valve" ], "alt_id": [], "def": "Abnormally short chordae tendineae of the tricuspid valve.", "synonym": [], "xref": [ "UMLS:C4025001" ], "is_a": [ "HP:0031442" ], "is_obsolete": "", "replace_id": "" }, "HP:0006693": { "name": [ "myocardial steatosis", "myocardial steatosis" ], "alt_id": [], "def": "Steatosis in the myocardium.", "synonym": [], "xref": [ "UMLS:C4025000" ], "is_a": [ "HP:0001713" ], "is_obsolete": "", "replace_id": "" }, "HP:0006694": { "name": [ "early progressive calcific cardiac valvular disease", "early progressive calcific cardiac valvular disease" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024999" ], "is_a": [ "HP:0005146" ], "is_obsolete": "", "replace_id": "" }, "HP:0006695": { "name": [ "atrioventricular canal defect", "atrioventricular canal defect" ], "alt_id": [ "HP:0005139", "HP:0005298", "HP:0010439" ], "def": "A defect of the atrioventricular septum of the heart.", "synonym": [ [ "atrioventricular septal defect", "atrioventricular septal defect" ], [ "endocardial cushion defect", "endocardial cushion defect" ], [ "hole in center of heart", "hole in center of heart" ], [ "hole in centre of heart", "hole in centre of heart" ] ], "xref": [ "Fyler:0606", "Fyler:1100", "Fyler:606", "MSH:C562831", "MSH:D004694", "SNOMEDCT_US:15459006", "UMLS:C0014116", "UMLS:C1389016" ], "is_a": [ "HP:0001671" ], "is_obsolete": "", "replace_id": "" }, "HP:0006696": { "name": [ "polymorphic and polytopic ventricular extrasystoles", "polymorphic and polytopic ventricular extrasystole" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024998" ], "is_a": [ "HP:0006682" ], "is_obsolete": "", "replace_id": "" }, "HP:0006698": { "name": [ "dilatation of the ventricular cavity", "dilatation of the ventricular cavity" ], "alt_id": [], "def": "A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.", "synonym": [ [ "ventricular aneurysm", "ventricular aneurysm" ] ], "xref": [ "SNOMEDCT_US:90539001", "UMLS:C0392464" ], "is_a": [ "HP:0001713", "HP:0002617" ], "is_obsolete": "", "replace_id": "" }, "HP:0006699": { "name": [ "premature atrial contractions", "premature atrial contraction" ], "alt_id": [], "def": "A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.", "synonym": [ [ "atrial ectopic beats", "atrial ectopic beat" ], [ "atrial premature complex", "atrial premature complex" ], [ "ectopic supraventricular rhythms", "ectopic supraventricular rhythm" ], [ "pacs", "pac" ], [ "premature supraventricular beats", "premature supraventricular beat" ] ], "xref": [ "MSH:D018880", "SNOMEDCT_US:284470004", "SNOMEDCT_US:287057009", "SNOMEDCT_US:406461004", "SNOMEDCT_US:63593006", "UMLS:C0033036" ], "is_a": [ "HP:0005115" ], "is_obsolete": "", "replace_id": "" }, "HP:0006702": { "name": [ "coronary artery dissection", "coronary artery dissection" ], "alt_id": [], "def": "Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery.", "synonym": [], "xref": [ "MSH:C565153", "UMLS:C1852540" ], "is_a": [ "HP:0006704" ], "is_obsolete": "", "replace_id": "" }, "HP:0006703": { "name": [ "aplasia / hypoplasia of the lungs", "aplasia / hypoplasia of the lung" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small lungs", "absent / small lung" ], [ "absent / underdeveloped lungs", "absent / underdevelop lung" ] ], "xref": [ "UMLS:C4024996" ], "is_a": [ "HP:4000059" ], "is_obsolete": "", "replace_id": "" }, "HP:0006704": { "name": [ "abnormal coronary artery morphology", "abnormal coronary artery morphology" ], "alt_id": [], "def": "Any structural abnormality of the coronary arteries.", "synonym": [], "xref": [ "Fyler:3100", "SNOMEDCT_US:28574005", "UMLS:C0158623" ], "is_a": [ "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:0006705": { "name": [ "abnormal atrioventricular valve morphology", "abnormal atrioventricular valve morphology" ], "alt_id": [ "HP:0006675" ], "def": "An abnormality of an atrioventricular valve.", "synonym": [ [ "abnormality of the atrioventricular valves", "abnormality of the atrioventricular valve" ] ], "xref": [ "UMLS:C4024995" ], "is_a": [ "HP:0001654" ], "is_obsolete": "", "replace_id": "" }, "HP:0006706": { "name": [ "cystic liver disease", "cystic liver disease" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C536330", "SNOMEDCT_US:72925005", "UMLS:C0158683" ], "is_a": [ "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0006707": { "name": [ "abnormality of the hepatic vasculature", "abnormality of the hepatic vasculature" ], "alt_id": [], "def": "An abnormality of the hepatic vasculature.", "synonym": [ [ "abnormality of liver blood vessels", "abnormality of liver blood vessel" ], [ "abnormality of the liver vasculature", "abnormality of the liver vasculature" ] ], "xref": [ "UMLS:C4024994" ], "is_a": [ "HP:0002597", "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0006709": { "name": [ "aplasia / hypoplasia of the nipples", "aplasia / hypoplasia of the nipple" ], "alt_id": [ "HP:0006602", "HP:0006669" ], "def": "", "synonym": [ [ "absent / rudimentary nipples", "absent / rudimentary nipple" ], [ "absent / small nipples", "absent / small nipple" ], [ "absent / underdeveloped nipples", "absent / underdevelop nipple" ], [ "nipples absent or rudimentary", "nipple absent or rudimentary" ] ], "xref": [ "UMLS:C3150086" ], "is_a": [ "HP:0004404" ], "is_obsolete": "", "replace_id": "" }, "HP:0006710": { "name": [ "aplasia / hypoplasia of the clavicles", "aplasia / hypoplasia of the clavicle" ], "alt_id": [], "def": "Absence or underdevelopment of the clavicles (collar bones).", "synonym": [ [ "absent / small collarbone", "absent / small collarbone" ], [ "absent / underdeveloped collarbone", "absent / underdevelop collarbone" ] ], "xref": [ "UMLS:C4024993" ], "is_a": [ "HP:0000889", "HP:0006711" ], "is_obsolete": "", "replace_id": "" }, "HP:0006711": { "name": [ "aplasia / hypoplasia involving bones of the thorax", "aplasia / hypoplasia involve bone of the thorax" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small outermost thorax bone", "absent / small outermost thorax bone" ], [ "absent / underdeveloped thorax bone", "absent / underdevelop thorax bone" ] ], "xref": [ "UMLS:C4024992" ], "is_a": [ "HP:0000765", "HP:0009122" ], "is_obsolete": "", "replace_id": "" }, "HP:0006712": { "name": [ "aplasia / hypoplasia of the ribs", "aplasia / hypoplasia of the rib" ], "alt_id": [ "HP:0006636" ], "def": "", "synonym": [ [ "absent / small ribs", "absent / small rib" ], [ "absent / underdeveloped ribs", "absent / underdevelop rib" ], [ "hypoplastic or missing ribs", "hypoplastic or miss rib" ] ], "xref": [ "UMLS:C1847363" ], "is_a": [ "HP:0000772", "HP:0006711" ], "is_obsolete": "", "replace_id": "" }, "HP:0006713": { "name": [ "aplasia / hypoplasia of the scapulae", "aplasia / hypoplasia of the scapula" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small shoulder blade", "absent / small shoulder blade" ], [ "absent / underdeveloped shoulder blade", "absent / underdevelop shoulder blade" ] ], "xref": [ "UMLS:C4024991" ], "is_a": [ "HP:0000782", "HP:0006711" ], "is_obsolete": "", "replace_id": "" }, "HP:0006714": { "name": [ "aplasia / hypoplasia of the sternum", "aplasia / hypoplasia of the sternum" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small sternum", "absent / small sternum" ], [ "absent / underdeveloped sternum", "absent / underdevelop sternum" ] ], "xref": [ "UMLS:C4024990" ], "is_a": [ "HP:0000766", "HP:0006711" ], "is_obsolete": "", "replace_id": "" }, "HP:0006715": { "name": [ "glomus tympanicum paraganglioma", "glomus tympanicum paraganglioma" ], "alt_id": [ "HP:0002892" ], "def": "", "synonym": [ [ "tympanic nerve tumor", "tympanic nerve tumor" ], [ "tympanic nerve tumors", "tympanic nerve tumor" ], [ "tympanic nerve tumour", "tympanic nerve tumour" ], [ "tympanic nerve tumours", "tympanic nerve tumour" ] ], "xref": [ "UMLS:C1866555" ], "is_a": [ "HP:0002864" ], "is_obsolete": "", "replace_id": "" }, "HP:0006716": { "name": [ "hereditary nonpolyposis colorectal carcinoma", "hereditary nonpolyposis colorectal carcinoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024989" ], "is_a": [ "HP:0002672", "HP:0100834" ], "is_obsolete": "", "replace_id": "" }, "HP:0006717": { "name": [ "peripheral neuroepithelioma", "peripheral neuroepithelioma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:254764001", "UMLS:C3489398" ], "is_a": [ "HP:0100007" ], "is_obsolete": "", "replace_id": "" }, "HP:0006719": { "name": [ "benign gastrointestinal tract tumors", "benign gastrointestinal tract tumor" ], "alt_id": [], "def": "", "synonym": [ [ "benign gastrointestinal tract tumours", "benign gastrointestinal tract tumour" ], [ "benign gi tract tumors", "benign gi tract tumor" ], [ "benign gi tract tumours", "benign gi tract tumour" ], [ "non - cancerous gi tumors", "non - cancerous gi tumor" ], [ "non - cancerous gi tumours", "non - cancerous gi tumour" ] ], "xref": [ "SNOMEDCT_US:92118007", "UMLS:C0497538" ], "is_a": [ "HP:0007378" ], "is_obsolete": "", "replace_id": "" }, "HP:0006721": { "name": [ "acute lymphoblastic leukemia", "acute lymphoblastic leukemia" ], "alt_id": [ "HP:0004803", "HP:0005555" ], "def": "A form of acute leukemia characterized by excess lympoblasts.", "synonym": [ [ "acute lymphatic leukaemia", "acute lymphatic leukaemia" ], [ "acute lymphatic leukemia", "acute lymphatic leukemia" ], [ "acute lymphoblastic leukaemia", "acute lymphoblastic leukaemia" ], [ "acute lymphocytic leukaemia", "acute lymphocytic leukaemia" ], [ "acute lymphocytic leukemia", "acute lymphocytic leukemia" ], [ "acute lymphoid leukaemia", "acute lymphoid leukaemia" ], [ "acute lymphoid leukemia", "acute lymphoid leukemia" ] ], "xref": [ "SNOMEDCT_US:128822004", "SNOMEDCT_US:91857003", "UMLS:C0023449" ], "is_a": [ "HP:0002488" ], "is_obsolete": "", "replace_id": "" }, "HP:0006722": { "name": [ "small intestine carcinoid", "small intestine carcinoid" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1868072" ], "is_a": [ "HP:0100570", "HP:0100833" ], "is_obsolete": "", "replace_id": "" }, "HP:0006723": { "name": [ "intestinal carcinoid", "intestinal carcinoid" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024988" ], "is_a": [ "HP:0007378", "HP:0100570" ], "is_obsolete": "", "replace_id": "" }, "HP:0006725": { "name": [ "pancreatic adenocarcinoma", "pancreatic adenocarcinoma" ], "alt_id": [], "def": "The presence of an adenocarcinoma of the pancreas.", "synonym": [], "xref": [ "NCIT:C2852", "SNOMEDCT_US:700423003", "UMLS:C0281361" ], "is_a": [ "HP:0002894" ], "is_obsolete": "", "replace_id": "" }, "HP:0006727": { "name": [ "t - cell acute lymphoblastic leukemias", "t - cell acute lymphoblastic leukemia" ], "alt_id": [], "def": "Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females.", "synonym": [], "xref": [ "MSH:D054218", "SNOMEDCT_US:128824003", "SNOMEDCT_US:277575008", "UMLS:C1961099" ], "is_a": [ "HP:0006721" ], "is_obsolete": "", "replace_id": "" }, "HP:0006729": { "name": [ "retroperitoneal chemodectomas", "retroperitoneal chemodectomas" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "NCIT:C3308", "UMLS:C4024987" ], "is_a": [ "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0006731": { "name": [ "follicular thyroid carcinoma", "follicular thyroid carcinoma" ], "alt_id": [], "def": "The presence of an follicular adenocarcinoma of the thyroid gland.", "synonym": [], "xref": [ "MSH:D018263", "NCIT:C8054", "SNOMEDCT_US:255028004", "SNOMEDCT_US:28173006", "SNOMEDCT_US:5257006", "UMLS:C0206682" ], "is_a": [ "HP:0002890" ], "is_obsolete": "", "replace_id": "" }, "HP:0006732": { "name": [ "papillary renal cell carcinoma type 2", "papillary renal cell carcinoma type 2" ], "alt_id": [], "def": "A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification.", "synonym": [], "xref": [ "UMLS:C1336840" ], "is_a": [ "HP:0006766" ], "is_obsolete": "", "replace_id": "" }, "HP:0006733": { "name": [ "acute megakaryocytic leukemia", "acute megakaryocytic leukemia" ], "alt_id": [], "def": "A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts.", "synonym": [ [ "acute megakaryocytic leukaemia", "acute megakaryocytic leukaemia" ], [ "amegl", "amegl" ] ], "xref": [ "MSH:D015470", "SNOMEDCT_US:17788007", "SNOMEDCT_US:413443009", "SNOMEDCT_US:91861009", "UMLS:C0023467" ], "is_a": [ "HP:0002488" ], "is_obsolete": "", "replace_id": "" }, "HP:0006735": { "name": [ "renal cortical adenoma", "renal cortical adenoma" ], "alt_id": [], "def": "The presence of an adenoma in the cortex of the kidney.", "synonym": [ [ "kidney cortical adenoma", "kidney cortical adenoma" ] ], "xref": [ "NCIT:C2855", "SNOMEDCT_US:254919009", "UMLS:C0346253" ], "is_a": [ "HP:0009726" ], "is_obsolete": "", "replace_id": "" }, "HP:0006737": { "name": [ "extraadrenal pheochromocytoma", "extraadrenal pheochromocytoma" ], "alt_id": [ "HP:0006764" ], "def": "Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia.", "synonym": [ [ "pheochromocytoma , extraadrenal", "pheochromocytoma , extraadrenal" ] ], "xref": [ "MSH:D010673", "UMLS:C1257877" ], "is_a": [ "HP:0002666" ], "is_obsolete": "", "replace_id": "" }, "HP:0006739": { "name": [ "squamous cell carcinoma of the skin", "squamous cell carcinoma of the skin" ], "alt_id": [ "HP:0007614" ], "def": "Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.", "synonym": [ [ "squamous skin carcinoma", "squamous skin carcinoma" ] ], "xref": [ "SNOMEDCT_US:254651007", "UMLS:C0553723" ], "is_a": [ "HP:0002860" ], "is_obsolete": "", "replace_id": "" }, "HP:0006740": { "name": [ "transitional cell carcinoma of the bladder", "transitional cell carcinoma of the bladder" ], "alt_id": [], "def": "The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.", "synonym": [ [ "transitional cell bladder carcinoma", "transitional cell bladder carcinoma" ] ], "xref": [ "NCIT:C2930", "SNOMEDCT_US:255109008", "UMLS:C0279680" ], "is_a": [ "HP:0002862" ], "is_obsolete": "", "replace_id": "" }, "HP:0006742": { "name": [ "congenital neuroblastoma", "congenital neuroblastoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024986" ], "is_a": [ "HP:0003006" ], "is_obsolete": "", "replace_id": "" }, "HP:0006743": { "name": [ "embryonal rhabdomyosarcoma", "embryonal rhabdomyosarcoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D018233", "NCIT:C8971", "SNOMEDCT_US:14269005", "SNOMEDCT_US:404051002", "UMLS:C0206656" ], "is_a": [ "HP:0002859", "HP:0002898" ], "is_obsolete": "", "replace_id": "" }, "HP:0006744": { "name": [ "adrenocortical carcinoma", "adrenocortical carcinoma" ], "alt_id": [ "HP:0002889", "HP:0006759" ], "def": "A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.", "synonym": [ [ "adrenal carcinoma", "adrenal carcinoma" ], [ "adrenal gland carinoma", "adrenal gland carinoma" ] ], "xref": [ "MSH:D018268", "NCIT:C2916", "SNOMEDCT_US:2227007", "SNOMEDCT_US:255035007", "UMLS:C0206686" ], "is_a": [ "HP:0100641" ], "is_obsolete": "", "replace_id": "" }, "HP:0006747": { "name": [ "ganglioneuroblastoma", "ganglioneuroblastoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D018305", "SNOMEDCT_US:116381000119105", "SNOMEDCT_US:69515008", "UMLS:C0206718" ], "is_a": [ "HP:0003006" ], "is_obsolete": "", "replace_id": "" }, "HP:0006748": { "name": [ "adrenal pheochromocytoma", "adrenal pheochromocytoma" ], "alt_id": [ "HP:0006752" ], "def": "Pheochromocytoma originating from the adrenal medulla.", "synonym": [ [ "pheochromocytoma , adrenal", "pheochromocytoma , adrenal" ], [ "pheochromocytomas , adrenal", "pheochromocytoma , adrenal" ] ], "xref": [ "MSH:D010673", "NCIT:C3326", "SNOMEDCT_US:302835009", "SNOMEDCT_US:399343007", "SNOMEDCT_US:85583005", "UMLS:C0031511" ], "is_a": [ "HP:0002666", "HP:0100642" ], "is_obsolete": "", "replace_id": "" }, "HP:0006749": { "name": [ "malignant gastrointestinal tract tumors", "malignant gastrointestinal tract tumor" ], "alt_id": [], "def": "", "synonym": [ [ "malignant gastrointestinal tract tumours", "malignant gastrointestinal tract tumour" ], [ "malignant gi tract tumors", "malignant gi tract tumor" ], [ "malignant gi tract tumours", "malignant gi tract tumour" ] ], "xref": [ "MSH:D005770", "SNOMEDCT_US:428905002", "UMLS:C0685938" ], "is_a": [ "HP:0007378" ], "is_obsolete": "", "replace_id": "" }, "HP:0006751": { "name": [ "paraspinal neurofibromas", "paraspinal neurofibroma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024985" ], "is_a": [ "HP:0001067" ], "is_obsolete": "", "replace_id": "" }, "HP:0006753": { "name": [ "neoplasm of the stomach", "neoplasm of the stomach" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the stomach.", "synonym": [ [ "neoplasia of the stomach", "neoplasia of the stomach" ], [ "stomach tumor", "stomach tumor" ], [ "stomach tumour", "stomach tumour" ] ], "xref": [ "MSH:D013274", "NCIT:C3262", "SNOMEDCT_US:126824007", "UMLS:C0038356", "UMLS:C4020813" ], "is_a": [ "HP:0002577", "HP:0007378" ], "is_obsolete": "", "replace_id": "" }, "HP:0006755": { "name": [ "cutaneous leiomyosarcoma", "cutaneous leiomyosarcoma" ], "alt_id": [], "def": "The presence of leiomyosarcoma of the skin.", "synonym": [], "xref": [ "NCIT:C3158", "SNOMEDCT_US:254771006", "UMLS:C0346067" ], "is_a": [ "HP:0008069", "HP:0100243" ], "is_obsolete": "", "replace_id": "" }, "HP:0006756": { "name": [ "diffuse leiomyomatosis", "diffuse leiomyomatosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024984" ], "is_a": [ "HP:0031459" ], "is_obsolete": "", "replace_id": "" }, "HP:0006758": { "name": [ "malignant genitourinary tract tumor", "malignant genitourinary tract tumor" ], "alt_id": [], "def": "The presence of a malignant neoplasm of the genital system.", "synonym": [ [ "malignant genitourinary tract tumour", "malignant genitourinary tract tumour" ], [ "malignant gu tract tumor", "malignant gu tract tumor" ], [ "malignant gu tract tumour", "malignant gu tract tumour" ] ], "xref": [ "UMLS:C1834728" ], "is_a": [ "HP:0007379" ], "is_obsolete": "", "replace_id": "" }, "HP:0006762": { "name": [ "renal pelvic carcinoma", "renal pelvic carcinoma" ], "alt_id": [], "def": "The presence of a carcinoma in the renal pelvis.", "synonym": [], "xref": [ "NCIT:C2916", "UMLS:C4024983" ], "is_a": [ "HP:0009726" ], "is_obsolete": "", "replace_id": "" }, "HP:0006763": { "name": [ "anal canal squamous carcinoma", "anal canal squamous carcinoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024982" ], "is_a": [ "HP:0030437" ], "is_obsolete": "", "replace_id": "" }, "HP:0006765": { "name": [ "chondrosarcoma", "chondrosarcoma" ], "alt_id": [], "def": "A slowly growing malignant neoplasm derived from cartilage cells.", "synonym": [], "xref": [ "MSH:D002813", "NCIT:C2946", "SNOMEDCT_US:14990007", "SNOMEDCT_US:443520009", "UMLS:C0008479" ], "is_a": [ "HP:0010622", "HP:0100242" ], "is_obsolete": "", "replace_id": "" }, "HP:0006766": { "name": [ "papillary renal cell carcinoma", "papillary renal cell carcinoma" ], "alt_id": [ "HP:0006776" ], "def": "The presence of renal cell carcinoma in the renal papilla.", "synonym": [], "xref": [ "MSH:D002292", "NCIT:C2916", "UMLS:C1306837" ], "is_a": [ "HP:0005584" ], "is_obsolete": "", "replace_id": "" }, "HP:0006767": { "name": [ "pituitary prolactin cell adenoma", "pituitary prolactin cell adenoma" ], "alt_id": [], "def": "A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women.", "synonym": [ [ "pituitary prolactinoma", "pituitary prolactinoma" ], [ "prolactin - secreting pituitary adenoma", "prolactin - secrete pituitary adenoma" ] ], "xref": [ "MSH:D015175", "SNOMEDCT_US:134209002", "SNOMEDCT_US:34337008", "UMLS:C0033375" ], "is_a": [ "HP:0002893" ], "is_obsolete": "", "replace_id": "" }, "HP:0006768": { "name": [ "localized neuroblastoma", "localize neuroblastoma" ], "alt_id": [], "def": "", "synonym": [ [ "localised neuroblastoma", "localise neuroblastoma" ] ], "xref": [ "UMLS:C4024981" ], "is_a": [ "HP:0003006" ], "is_obsolete": "", "replace_id": "" }, "HP:0006769": { "name": [ "myxoid subcutaneous tumors", "myxoid subcutaneous tumor" ], "alt_id": [], "def": "", "synonym": [ [ "myxoid subcutaneous tumours", "myxoid subcutaneous tumour" ] ], "xref": [ "UMLS:C1834421" ], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0006770": { "name": [ "clear cell renal cell carcinoma", "clear cell renal cell carcinoma" ], "alt_id": [], "def": "A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron.", "synonym": [ [ "nonpapillary renal cell carcinoma", "nonpapillary renal cell carcinoma" ] ], "xref": [ "MSH:D002292", "SNOMEDCT_US:188251003", "SNOMEDCT_US:254915003", "SNOMEDCT_US:41607009", "UMLS:C0279702" ], "is_a": [ "HP:0005584" ], "is_obsolete": "", "replace_id": "" }, "HP:0006771": { "name": [ "duodenal adenocarcinoma", "duodenal adenocarcinoma" ], "alt_id": [], "def": "A malignant epithelial tumor with a glandular organization that originates in the duodenum.", "synonym": [ [ "duodenal cancer", "duodenal cancer" ] ], "xref": [ "MSH:D004379", "NCIT:C2852", "SNOMEDCT_US:254570009", "SNOMEDCT_US:408644002", "UMLS:C0278804", "UMLS:C0541912" ], "is_a": [ "HP:0040274" ], "is_obsolete": "", "replace_id": "" }, "HP:0006772": { "name": [ "renal angiomyolipoma", "renal angiomyolipoma" ], "alt_id": [ "HP:0100873" ], "def": "A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.", "synonym": [ [ "angiomyolipoma", "angiomyolipoma" ], [ "kidney angiomyolipoma", "kidney angiomyolipoma" ] ], "xref": [ "NCIT:C3734", "SNOMEDCT_US:254921004", "UMLS:C0241961" ], "is_a": [ "HP:0008696" ], "is_obsolete": "", "replace_id": "" }, "HP:0006773": { "name": [ "cutaneous angiolipomas", "cutaneous angiolipomas" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "NCIT:C3733", "UMLS:C4024980" ], "is_a": [ "HP:0001012", "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0006774": { "name": [ "ovarian papillary adenocarcinoma", "ovarian papillary adenocarcinoma" ], "alt_id": [], "def": "The presence of a papillary adenocarcinoma of the ovary.", "synonym": [], "xref": [ "NCIT:C2853", "UMLS:C4024979" ], "is_a": [ "HP:0100615" ], "is_obsolete": "", "replace_id": "" }, "HP:0006775": { "name": [ "multiple myeloma", "multiple myeloma" ], "alt_id": [], "def": "A malignant plasma cell tumor growing within soft tissue or within the skeleton.", "synonym": [ [ "kahler 's disease", "kahler 's disease" ], [ "plasmocytoma", "plasmocytoma" ] ], "xref": [ "MSH:D009101", "MSH:D010954", "SNOMEDCT_US:10639003", "SNOMEDCT_US:109989006", "SNOMEDCT_US:415112005", "SNOMEDCT_US:55921005", "UMLS:C0026764", "UMLS:C0032131" ], "is_a": [ "HP:0004377" ], "is_obsolete": "", "replace_id": "" }, "HP:0006778": { "name": [ "benign genitourinary tract neoplasm", "benign genitourinary tract neoplasm" ], "alt_id": [], "def": "A non-malignant neoplasm of the genitourinary system.", "synonym": [ [ "benign genitourinary tract tumor", "benign genitourinary tract tumor" ], [ "benign genitourinary tract tumour", "benign genitourinary tract tumour" ], [ "benign gu tract neoplasm", "benign gu tract neoplasm" ] ], "xref": [ "UMLS:C3804991" ], "is_a": [ "HP:0007379" ], "is_obsolete": "", "replace_id": "" }, "HP:0006779": { "name": [ "alveolar rhabdomyosarcoma", "alveolar rhabdomyosarcoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D018232", "NCIT:C3749", "SNOMEDCT_US:404053004", "SNOMEDCT_US:63449009", "UMLS:C0206655" ], "is_a": [ "HP:0002859" ], "is_obsolete": "", "replace_id": "" }, "HP:0006780": { "name": [ "parathyroid carcinoma", "parathyroid carcinoma" ], "alt_id": [], "def": "A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism.", "synonym": [ [ "parathyroid cancer", "parathyroid cancer" ] ], "xref": [ "MSH:D010282", "NCIT:C2916", "SNOMEDCT_US:255037004", "SNOMEDCT_US:363481002", "UMLS:C0687150" ], "is_a": [ "HP:0100733" ], "is_obsolete": "", "replace_id": "" }, "HP:0006781": { "name": [ "hurthle cell thyroid adenoma", "hurthle cell thyroid adenoma" ], "alt_id": [], "def": "A kind of thyroid adenoma characterized by the presence of oxyphil cells.", "synonym": [], "xref": [ "UMLS:C1336750" ], "is_a": [ "HP:0000854" ], "is_obsolete": "", "replace_id": "" }, "HP:0006782": { "name": [ "malignant eosinophil proliferation", "malignant eosinophil proliferation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C565054", "UMLS:C1851585" ], "is_a": [ "HP:0004377" ], "is_obsolete": "", "replace_id": "" }, "HP:0006783": { "name": [ "posterior pharyngeal cleft", "posterior pharyngeal cleft" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1848389" ], "is_a": [ "HP:0000600" ], "is_obsolete": "", "replace_id": "" }, "HP:0006784": { "name": [ "paranasal sinus hypoplasia", "paranasal sinus hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the paranasal sinuses.", "synonym": [ [ "atelectasis of paranasal sinus", "atelectasis of paranasal sinus" ], [ "decreased growth of paranasal sinus", "decreased growth of paranasal sinus" ], [ "decreased pneumatization of paranasal sinus", "decreased pneumatization of paranasal sinus" ], [ "decreased size of paranasal sinus", "decreased size of paranasal sinus" ], [ "decreased volume of paranasal sinus", "decreased volume of paranasal sinus" ], [ "hypotrophic paranasal sinus", "hypotrophic paranasal sinus" ], [ "small paranasal sinus", "small paranasal sinus" ], [ "underdevelopment of paranasal sinus", "underdevelopment of paranasal sinus" ] ], "xref": [ "UMLS:C2749161", "UMLS:C4280256", "UMLS:C4280441", "UMLS:C4280442" ], "is_a": [ "HP:0005453" ], "is_obsolete": "", "replace_id": "" }, "HP:0006785": { "name": [ "limb - girdle muscular dystrophy", "limb - girdle muscular dystrophy" ], "alt_id": [ "HP:0009066" ], "def": "Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).", "synonym": [ [ "limb girdle muscular dystrophy", "limb girdle muscular dystrophy" ] ], "xref": [ "MSH:D049288", "SNOMEDCT_US:93153005", "UMLS:C0686353" ], "is_a": [ "HP:0003560", "HP:0003797" ], "is_obsolete": "", "replace_id": "" }, "HP:0006789": { "name": [ "mitochondrial encephalopathy", "mitochondrial encephalopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C538525", "UMLS:C1852373" ], "is_a": [ "HP:0001298" ], "is_obsolete": "", "replace_id": "" }, "HP:0006790": { "name": [ "cerebral cortex with spongiform changes", "cerebral cortex with spongiform change" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1857934" ], "is_a": [ "HP:0002538" ], "is_obsolete": "", "replace_id": "" }, "HP:0006794": { "name": [ "loss of ability to walk in first decade", "loss of ability to walk in first decade" ], "alt_id": [], "def": "", "synonym": [ [ "loss of ability to walk in first decade", "loss of ability to walk in first decade" ] ], "xref": [ "UMLS:C1846133" ], "is_a": [ "HP:0002505" ], "is_obsolete": "", "replace_id": "" }, "HP:0006799": { "name": [ "basal ganglia cysts", "basal ganglion cyst" ], "alt_id": [ "HP:0007244" ], "def": "", "synonym": [ [ "cystic lesions in the basal ganglia", "cystic lesion in the basal ganglion" ] ], "xref": [ "UMLS:C1837251" ], "is_a": [ "HP:0002134", "HP:0010576" ], "is_obsolete": "", "replace_id": "" }, "HP:0006801": { "name": [ "hyperactive deep tendon reflexes", "hyperactive deep tendon reflex" ], "alt_id": [ "HP:0007259" ], "def": "", "synonym": [], "xref": [ "UMLS:C1846176" ], "is_a": [ "HP:0001347" ], "is_obsolete": "", "replace_id": "" }, "HP:0006802": { "name": [ "abnormal anterior horn cell morphology", "abnormal anterior horn cell morphology" ], "alt_id": [], "def": "Any anomaly of the anterior horn cell.", "synonym": [ [ "abnormality of the anterior horn cell", "abnormality of the anterior horn cell" ], [ "abnormality of the anterior horn cells", "abnormality of the anterior horn cell" ], [ "anomaly of the anterior horn cells", "anomaly of the anterior horn cell" ], [ "anterior horn cell disease", "anterior horn cell disease" ] ], "xref": [ "MSH:D016472", "SNOMEDCT_US:85672005", "UMLS:C0154681", "UMLS:C4020812" ], "is_a": [ "HP:0000759", "HP:0002450" ], "is_obsolete": "", "replace_id": "" }, "HP:0006803": { "name": [ "vivid hallucinations", "vivid hallucination" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024978" ], "is_a": [ "HP:0000738" ], "is_obsolete": "", "replace_id": "" }, "HP:0006808": { "name": [ "cerebral hypomyelination", "cerebral hypomyelination" ], "alt_id": [], "def": "Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.", "synonym": [ [ "hypomyelination of the brain", "hypomyelination of the brain" ] ], "xref": [ "UMLS:C2677328" ], "is_a": [ "HP:0003429" ], "is_obsolete": "", "replace_id": "" }, "HP:0006812": { "name": [ "white mater abnormalities in the posterior periventricular region", "white mater abnormality in the posterior periventricular region" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1836525" ], "is_a": [ "HP:0002500" ], "is_obsolete": "", "replace_id": "" }, "HP:0006813": { "name": [ "focal hemiclonic seizure", "focal hemiclonic seizure" ], "alt_id": [], "def": "A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.", "synonym": [ [ "hemiclonic seizure", "hemiclonic seizure" ], [ "hemiclonic seizures", "hemiclonic seizure" ], [ "unilateral clonic seizure", "unilateral clonic seizure" ], [ "unilateral clonic seizures", "unilateral clonic seizure" ] ], "xref": [ "UMLS:C1846620" ], "is_a": [ "HP:0002266" ], "is_obsolete": "", "replace_id": "" }, "HP:0006817": { "name": [ "aplasia / hypoplasia of the cerebellar vermis", "aplasia / hypoplasia of the cerebellar vermis" ], "alt_id": [ "HP:0005690", "HP:0007080" ], "def": "Absence or underdevelopment of the vermis of cerebellum.", "synonym": [ [ "cerebellar vermis aplasia or hypoplasia", "cerebellar vermis aplasia or hypoplasia" ], [ "cerebellar vermis aplasia / hypoplasia", "cerebellar vermis aplasia / hypoplasia" ], [ "hypo / aplastic vermis", "hypo / aplastic vermis" ] ], "xref": [ "UMLS:C1855676", "UMLS:C3280770" ], "is_a": [ "HP:0002334", "HP:0007360" ], "is_obsolete": "", "replace_id": "" }, "HP:0006818": { "name": [ "4 - layered lissencephaly", "4 - layer lissencephaly" ], "alt_id": [], "def": "A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm.", "synonym": [ [ "classic lissencephaly", "classic lissencephaly" ], [ "four - layered lissencephaly", "four - layer lissencephaly" ], [ "lissencephaly , type i", "lissencephaly , type i" ], [ "type 1 lissencephaly", "type 1 lissencephaly" ], [ "type i lissencephaly", "type i lissencephaly" ] ], "xref": [ "MSH:D054221", "SNOMEDCT_US:253147000", "UMLS:C0431375" ], "is_a": [ "HP:0001339" ], "is_obsolete": "", "replace_id": "" }, "HP:0006821": { "name": [ "frontal polymicrogyria", "frontal polymicrogyria" ], "alt_id": [], "def": "A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum.", "synonym": [ [ "polymicrogyria , anterior to posterior gradient", "polymicrogyria , anterior to posterior gradient" ] ], "xref": [ "UMLS:C1847356" ], "is_a": [ "HP:0002126" ], "is_obsolete": "", "replace_id": "" }, "HP:0006824": { "name": [ "cranial nerve paralysis", "cranial nerve paralysis" ], "alt_id": [ "HP:0001353", "HP:0002377" ], "def": "", "synonym": [ [ "cranial nerve palsies", "cranial nerve palsy" ], [ "cranial nerve palsy", "cranial nerve palsy" ], [ "cranial nerve paresis", "cranial nerve paresis" ] ], "xref": [ "MSH:D003389", "SNOMEDCT_US:73013002", "UMLS:C0151311", "UMLS:C4025709" ], "is_a": [ "HP:0031910" ], "is_obsolete": "", "replace_id": "" }, "HP:0006825": { "name": [ "pallor of dorsal columns of the spinal cord", "pallor of dorsal column of the spinal cord" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1865416" ], "is_a": [ "HP:0011397" ], "is_obsolete": "", "replace_id": "" }, "HP:0006827": { "name": [ "atrophy of the spinal cord", "atrophy of the spinal cord" ], "alt_id": [], "def": "", "synonym": [ [ "degeneration of the spinal cord", "degeneration of the spinal cord" ] ], "xref": [ "UMLS:C1389102" ], "is_a": [ "HP:0007344" ], "is_obsolete": "", "replace_id": "" }, "HP:0006829": { "name": [ "severe muscular hypotonia", "severe muscular hypotonia" ], "alt_id": [ "HP:0002347" ], "def": "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.", "synonym": [ [ "hypotonia , severe", "hypotonia , severe" ], [ "severely decreased muscle tone", "severely decreased muscle tone" ] ], "xref": [ "UMLS:C1839630" ], "is_a": [ "HP:0001252" ], "is_obsolete": "", "replace_id": "" }, "HP:0006830": { "name": [ "obsolete severe neonatal hypotonia in males", "obsolete severe neonatal hypotonia in male" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0006834": { "name": [ "developmental stagnation at onset of seizures", "developmental stagnation at onset of seizure" ], "alt_id": [], "def": "A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy.", "synonym": [], "xref": [ "UMLS:C1836829" ], "is_a": [ "HP:0007281" ], "is_obsolete": "", "replace_id": "" }, "HP:0006837": { "name": [ "congenital horner syndrome", "congenital horner syndrome" ], "alt_id": [], "def": "A type of Horner syndrome with congenital onset.", "synonym": [], "xref": [ "MSH:C564178", "UMLS:C1840475" ], "is_a": [ "HP:0002277" ], "is_obsolete": "", "replace_id": "" }, "HP:0006844": { "name": [ "absent patellar reflexes", "absent patellar reflex" ], "alt_id": [], "def": "Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.", "synonym": [ [ "absent knee jerk reflex", "absent knee jerk reflex" ] ], "xref": [ "SNOMEDCT_US:274817009", "UMLS:C0558844" ], "is_a": [ "HP:0002522" ], "is_obsolete": "", "replace_id": "" }, "HP:0006846": { "name": [ "acute encephalopathy", "acute encephalopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:2776000", "UMLS:C1306587" ], "is_a": [ "HP:0001298" ], "is_obsolete": "", "replace_id": "" }, "HP:0006849": { "name": [ "hypodysplasia of the corpus callosum", "hypodysplasia of the corpus callosum" ], "alt_id": [], "def": "Developmental defect characterized by a small and malformed corpus callosum.", "synonym": [], "xref": [ "UMLS:C1850348" ], "is_a": [ "HP:0002079" ], "is_obsolete": "", "replace_id": "" }, "HP:0006850": { "name": [ "hypoplasia of the ventral pons", "hypoplasia of the ventral pons" ], "alt_id": [], "def": "Underdevelopment of the ventral portion of the pons.", "synonym": [ [ "underdeveloped ventral pons", "underdeveloped ventral pons" ] ], "xref": [ "UMLS:C1843507" ], "is_a": [ "HP:0002977", "HP:0007361" ], "is_obsolete": "", "replace_id": "" }, "HP:0006851": { "name": [ "symmetric spinal nerve root neurofibromas", "symmetric spinal nerve root neurofibroma" ], "alt_id": [], "def": "Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.", "synonym": [ [ "spinal nerve root neurofibromas , symmetric , multiple", "spinal nerve root neurofibroma , symmetric , multiple" ] ], "xref": [ "UMLS:C1834236" ], "is_a": [ "HP:0009735" ], "is_obsolete": "", "replace_id": "" }, "HP:0006852": { "name": [ "episodic generalized hypotonia", "episodic generalize hypotonia" ], "alt_id": [], "def": "The occurrence of repeated episodes of generalized muscular hypotonia.", "synonym": [ [ "episodic generalised hypotonia", "episodic generalise hypotonia" ] ], "xref": [ "UMLS:C4024976" ], "is_a": [ "HP:0001290" ], "is_obsolete": "", "replace_id": "" }, "HP:0006855": { "name": [ "cerebellar vermis atrophy", "cerebellar vermis atrophy" ], "alt_id": [ "HP:0007121", "HP:0007312" ], "def": "Wasting (atrophy) of the vermis of cerebellum.", "synonym": [ [ "atrophy of cerebellar vermis", "atrophy of cerebellar vermis" ], [ "atrophy of the cerebellar vermis", "atrophy of the cerebellar vermis" ], [ "vermian atrophy", "vermian atrophy" ] ], "xref": [ "UMLS:C0742028" ], "is_a": [ "HP:0001272", "HP:0002334" ], "is_obsolete": "", "replace_id": "" }, "HP:0006858": { "name": [ "impaired distal proprioception", "impaired distal proprioception" ], "alt_id": [ "HP:0007056", "HP:0007148" ], "def": "A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.", "synonym": [ [ "distal sensory loss of proprioception", "distal sensory loss of proprioception" ] ], "xref": [ "UMLS:C4021585" ], "is_a": [ "HP:0002936", "HP:0010831" ], "is_obsolete": "", "replace_id": "" }, "HP:0006859": { "name": [ "posterior leukoencephalopathy", "posterior leukoencephalopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024975" ], "is_a": [ "HP:0002352" ], "is_obsolete": "", "replace_id": "" }, "HP:0006863": { "name": [ "severe expressive language delay", "severe expressive language delay" ], "alt_id": [], "def": "A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.", "synonym": [], "xref": [ "SNOMEDCT_US:62221000119105", "UMLS:C1851085" ], "is_a": [ "HP:0002474" ], "is_obsolete": "", "replace_id": "" }, "HP:0006865": { "name": [ "sensorimotor polyneuropathy affecting arms more than legs", "sensorimotor polyneuropathy affect arm more than leg" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024974" ], "is_a": [ "HP:0009830" ], "is_obsolete": "", "replace_id": "" }, "HP:0006866": { "name": [ "midline central nervous system lipomas", "midline central nervous system lipoma" ], "alt_id": [], "def": "", "synonym": [ [ "midline cns lipomas", "midline cns lipoma" ] ], "xref": [ "UMLS:C4024973" ], "is_a": [ "HP:0100251" ], "is_obsolete": "", "replace_id": "" }, "HP:0006870": { "name": [ "lobar holoprosencephaly", "lobar holoprosencephaly" ], "alt_id": [], "def": "A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.", "synonym": [], "xref": [ "MSH:D016142", "SNOMEDCT_US:253136007", "UMLS:C0431362" ], "is_a": [ "HP:0001360" ], "is_obsolete": "", "replace_id": "" }, "HP:0006872": { "name": [ "cerebral hypoplasia", "cerebral hypoplasia" ], "alt_id": [ "HP:0001322" ], "def": "Underdevelopment of the cerebrum.", "synonym": [ [ "small cerebrum", "small cerebrum" ], [ "underdeveloped cerebrum", "underdeveloped cerebrum" ] ], "xref": [ "UMLS:C1855330" ], "is_a": [ "HP:0007364" ], "is_obsolete": "", "replace_id": "" }, "HP:0006873": { "name": [ "symmetrical progressive peripheral demyelination", "symmetrical progressive peripheral demyelination" ], "alt_id": [], "def": "A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.", "synonym": [], "xref": [ "UMLS:C4024972" ], "is_a": [ "HP:0007262" ], "is_obsolete": "", "replace_id": "" }, "HP:0006877": { "name": [ "obsolete mental retardation , in some", "obsolete mental retardation , in some" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001249" }, "HP:0006879": { "name": [ "pontocerebellar atrophy", "pontocerebellar atrophy" ], "alt_id": [], "def": "Atrophy affecting the pons and the cerebellum.", "synonym": [ [ "cerebellopontine atrophy", "cerebellopontine atrophy" ] ], "xref": [ "UMLS:C1853766" ], "is_a": [ "HP:0001272", "HP:0007361" ], "is_obsolete": "", "replace_id": "" }, "HP:0006880": { "name": [ "cerebellar hemangioblastoma", "cerebellar hemangioblastoma" ], "alt_id": [ "HP:0006761" ], "def": "A hemangioblastoma of the cerebellum.", "synonym": [ [ "hemangioblastoma , sporadic cerebellar", "hemangioblastoma , sporadic cerebellar" ] ], "xref": [ "NCIT:C3801", "UMLS:C1332900" ], "is_a": [ "HP:0001317", "HP:0010797" ], "is_obsolete": "", "replace_id": "" }, "HP:0006881": { "name": [ "diffuse peripheral demyelination", "diffuse peripheral demyelination" ], "alt_id": [], "def": "A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.", "synonym": [], "xref": [ "UMLS:C4024971" ], "is_a": [ "HP:0011096" ], "is_obsolete": "", "replace_id": "" }, "HP:0006882": { "name": [ "severe hydrocephalus", "severe hydrocephalus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3278123" ], "is_a": [ "HP:0000238" ], "is_obsolete": "", "replace_id": "" }, "HP:0006886": { "name": [ "impaired distal vibration sensation", "impaired distal vibration sensation" ], "alt_id": [], "def": "A decrease in the ability to perceive vibration in the distal portions of the limbs.", "synonym": [ [ "decreased distal vibration sense", "decrease distal vibration sense" ] ], "xref": [ "UMLS:C1853767" ], "is_a": [ "HP:0002495" ], "is_obsolete": "", "replace_id": "" }, "HP:0006887": { "name": [ "intellectual disability , progressive", "intellectual disability , progressive" ], "alt_id": [ "HP:0001261", "HP:0006924", "HP:0007025", "HP:0007044", "HP:0007243" ], "def": "The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.", "synonym": [ [ "intellectual disability , progressive", "intellectual disability , progressive" ], [ "mental retardation , progressive", "mental retardation , progressive" ], [ "progressive mental retardation", "progressive mental retardation" ] ], "xref": [ "UMLS:C1846149" ], "is_a": [ "HP:0001249" ], "is_obsolete": "", "replace_id": "" }, "HP:0006888": { "name": [ "meningoencephalocele", "meningoencephalocele" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:52330001", "UMLS:C0266456" ], "is_a": [ "HP:0002084" ], "is_obsolete": "", "replace_id": "" }, "HP:0006889": { "name": [ "intellectual disability , borderline", "intellectual disability , borderline" ], "alt_id": [], "def": "Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.", "synonym": [ [ "intellectual disability , borderline", "intellectual disability , borderline" ], [ "mental retardation , borderline", "mental retardation , borderline" ] ], "xref": [ "SNOMEDCT_US:77287004", "UMLS:C0006009" ], "is_a": [ "HP:0001249" ], "is_obsolete": "", "replace_id": "" }, "HP:0006891": { "name": [ "thick cerebral cortex", "thick cerebral cortex" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024970" ], "is_a": [ "HP:0002538" ], "is_obsolete": "", "replace_id": "" }, "HP:0006892": { "name": [ "frontotemporal cerebral atrophy", "frontotemporal cerebral atrophy" ], "alt_id": [], "def": "Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.", "synonym": [ [ "cerebral atrophy , frontotemporal", "cerebral atrophy , frontotemporal" ] ], "xref": [ "UMLS:C4021584" ], "is_a": [ "HP:0002059" ], "is_obsolete": "", "replace_id": "" }, "HP:0006893": { "name": [ "obsolete severely dysplastic cerebellum", "obsolete severely dysplastic cerebellum" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0007033" }, "HP:0006894": { "name": [ "hypoplastic olfactory lobes", "hypoplastic olfactory lobe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1859231" ], "is_a": [ "HP:0002977", "HP:0025057" ], "is_obsolete": "", "replace_id": "" }, "HP:0006895": { "name": [ "lower limb hypertonia", "low limb hypertonia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1845245" ], "is_a": [ "HP:0002509" ], "is_obsolete": "", "replace_id": "" }, "HP:0006896": { "name": [ "hypnopompic hallucinations", "hypnopompic hallucination" ], "alt_id": [], "def": "Fleeting perceptual experiences that occur during the transition from sleep to wakefulness.", "synonym": [], "xref": [ "MSH:D006212", "SNOMEDCT_US:69690008", "UMLS:C0424082" ], "is_a": [ "HP:0000738" ], "is_obsolete": "", "replace_id": "" }, "HP:0006897": { "name": [ "abducens palsy", "abducens palsy" ], "alt_id": [ "HP:0011349" ], "def": "Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.", "synonym": [ [ "abducens nerve palsy", "abducens nerve palsy" ], [ "abducens nerve paralysis", "abducens nerve paralysis" ], [ "abducens nerve paresis", "abducens nerve paresis" ], [ "cranial nerve vi palsy", "cranial nerve vi palsy" ], [ "lateral rectus muscle denervation paresis", "lateral rectus muscle denervation paresis" ], [ "sixth nerve palsy", "sixth nerve palsy" ] ], "xref": [ "MSH:C564661", "MSH:D020434", "SNOMEDCT_US:398760006", "SNOMEDCT_US:398925009", "SNOMEDCT_US:398963001", "UMLS:C0271355" ], "is_a": [ "HP:0006824" ], "is_obsolete": "", "replace_id": "" }, "HP:0006899": { "name": [ "fusion of the cerebellar hemispheres", "fusion of the cerebellar hemisphere" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1866131" ], "is_a": [ "HP:0001317" ], "is_obsolete": "", "replace_id": "" }, "HP:0006901": { "name": [ "obsolete impaired thermal sensitivity", "obsolete impair thermal sensitivity" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0010829" }, "HP:0006903": { "name": [ "congenital peripheral neuropathy", "congenital peripheral neuropathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024967" ], "is_a": [ "HP:0009830" ], "is_obsolete": "", "replace_id": "" }, "HP:0006904": { "name": [ "late - onset spinocerebellar degeneration", "late - onset spinocerebellar degeneration" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1856604" ], "is_a": [ "HP:0002503" ], "is_obsolete": "", "replace_id": "" }, "HP:0006906": { "name": [ "congenital intracerebral calcification", "congenital intracerebral calcification" ], "alt_id": [], "def": "The presence of calcium deposition within brain structures that is present already at the time of birth.", "synonym": [], "xref": [ "UMLS:C4024966" ], "is_a": [ "HP:0002514" ], "is_obsolete": "", "replace_id": "" }, "HP:0006913": { "name": [ "frontal cortical atrophy", "frontal cortical atrophy" ], "alt_id": [], "def": "Atrophy of the frontal cortex.", "synonym": [ [ "frontal cortex degeneration", "frontal cortex degeneration" ] ], "xref": [ "UMLS:C4024965" ], "is_a": [ "HP:0002120" ], "is_obsolete": "", "replace_id": "" }, "HP:0006915": { "name": [ "inability to walk by childhood / adolescence", "inability to walk by childhood / adolescence" ], "alt_id": [], "def": "", "synonym": [ [ "inability to walk by childhood / adolescence", "inability to walk by childhood / adolescence" ] ], "xref": [ "UMLS:C1859200" ], "is_a": [ "HP:0002540" ], "is_obsolete": "", "replace_id": "" }, "HP:0006916": { "name": [ "intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material", "intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material" ], "alt_id": [], "def": "Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons.", "synonym": [ [ "intraaxonal accumulation of curvilinear profiles", "intraaxonal accumulation of curvilinear profile" ] ], "xref": [ "UMLS:C1832339", "UMLS:C4024964" ], "is_a": [ "HP:0003205" ], "is_obsolete": "", "replace_id": "" }, "HP:0006918": { "name": [ "diffuse cerebral sclerosis", "diffuse cerebral sclerosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D002549", "SNOMEDCT_US:49692006", "UMLS:C0007795" ], "is_a": [ "HP:0002060" ], "is_obsolete": "", "replace_id": "" }, "HP:0006919": { "name": [ "abnormal aggressive , impulsive or violent behavior", "abnormal aggressive , impulsive or violent behavior" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal aggressive , impulsive or violent behaviour", "abnormal aggressive , impulsive or violent behaviour" ], [ "aggressive / violent behavior", "aggressive / violent behavior" ], [ "aggressive / violent behaviour", "aggressive / violent behaviour" ] ], "xref": [ "UMLS:C4024963" ], "is_a": [ "HP:0100851" ], "is_obsolete": "", "replace_id": "" }, "HP:0006921": { "name": [ "axial muscle stiffness", "axial muscle stiffness" ], "alt_id": [], "def": "Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature.", "synonym": [], "xref": [ "UMLS:C4024962" ], "is_a": [ "HP:0003552", "HP:0040286" ], "is_obsolete": "", "replace_id": "" }, "HP:0006926": { "name": [ "metachromatic leukodystrophy variant", "metachromatic leukodystrophy variant" ], "alt_id": [ "HP:0007079" ], "def": "", "synonym": [], "xref": [ "UMLS:C4024961" ], "is_a": [ "HP:0002415" ], "is_obsolete": "", "replace_id": "" }, "HP:0006927": { "name": [ "unilateral polymicrogyria", "unilateral polymicrogyria" ], "alt_id": [], "def": "Excessive number of small gyri (convolutions) on the surface of one side of the brain.", "synonym": [], "xref": [ "SNOMEDCT_US:715905006", "UMLS:C4024960" ], "is_a": [ "HP:0002126" ], "is_obsolete": "", "replace_id": "" }, "HP:0006929": { "name": [ "hypoglycemic encephalopathy", "hypoglycemic encephalopathy" ], "alt_id": [], "def": "Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.", "synonym": [], "xref": [ "SNOMEDCT_US:64624009", "UMLS:C0149877" ], "is_a": [ "HP:0001298" ], "is_obsolete": "", "replace_id": "" }, "HP:0006930": { "name": [ "frontoparietal cortical dysplasia", "frontoparietal cortical dysplasia" ], "alt_id": [], "def": "The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.", "synonym": [], "xref": [ "UMLS:C4024959" ], "is_a": [ "HP:0002539" ], "is_obsolete": "", "replace_id": "" }, "HP:0006931": { "name": [ "pericallosal lipoma", "pericallosal lipoma" ], "alt_id": [], "def": "Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain.", "synonym": [ [ "lipoma of corpus callosum", "lipoma of corpus callosum" ] ], "xref": [ "UMLS:C1333160" ], "is_a": [ "HP:0001273", "HP:0006866" ], "is_obsolete": "", "replace_id": "" }, "HP:0006932": { "name": [ "transient psychotic episodes", "transient psychotic episode" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024958" ], "is_a": [ "HP:0000725" ], "is_obsolete": "", "replace_id": "" }, "HP:0006934": { "name": [ "congenital nystagmus", "congenital nystagmus" ], "alt_id": [], "def": "Nystagmus dating from or present at birth.", "synonym": [ [ "nystagmus , congenital", "nystagmus , congenital" ] ], "xref": [ "MSH:D020417", "SNOMEDCT_US:64635004", "UMLS:C0700501" ], "is_a": [ "HP:0000639" ], "is_obsolete": "", "replace_id": "" }, "HP:0006937": { "name": [ "impaired distal tactile sensation", "impaired distal tactile sensation" ], "alt_id": [ "HP:0006981" ], "def": "A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.", "synonym": [ [ "decreased distal touch sense", "decrease distal touch sense" ], [ "decreased touch sensation in extremities", "decrease touch sensation in extremity" ] ], "xref": [ "UMLS:C4021583" ], "is_a": [ "HP:0002936", "HP:0010830" ], "is_obsolete": "", "replace_id": "" }, "HP:0006938": { "name": [ "impaired vibration sensation at ankles", "impaired vibration sensation at ankle" ], "alt_id": [ "HP:0007144" ], "def": "A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.", "synonym": [ [ "decreased vibration sense at ankles", "decrease vibration sense at ankle" ], [ "decreased vibration sense in feet", "decrease vibration sense in foot" ], [ "impaired vibration sensation at ankles", "impaired vibration sensation at ankle" ] ], "xref": [ "UMLS:C1854372" ], "is_a": [ "HP:0002166", "HP:0006886" ], "is_obsolete": "", "replace_id": "" }, "HP:0006943": { "name": [ "diffuse spongiform leukoencephalopathy", "diffuse spongiform leukoencephalopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1858857" ], "is_a": [ "HP:0002352" ], "is_obsolete": "", "replace_id": "" }, "HP:0006944": { "name": [ "abolished vibration sense", "abolish vibration sense" ], "alt_id": [], "def": "A complete loss of the ability to perceive vibration.", "synonym": [ [ "apallesthesia", "apallesthesia" ] ], "xref": [ "UMLS:C1837520" ], "is_a": [ "HP:0002495" ], "is_obsolete": "", "replace_id": "" }, "HP:0006946": { "name": [ "recurrent meningitis", "recurrent meningitis" ], "alt_id": [], "def": "An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.", "synonym": [], "xref": [ "UMLS:C0746495" ], "is_a": [ "HP:0011450" ], "is_obsolete": "", "replace_id": "" }, "HP:0006949": { "name": [ "episodic peripheral neuropathy", "episodic peripheral neuropathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1848695" ], "is_a": [ "HP:0009830" ], "is_obsolete": "", "replace_id": "" }, "HP:0006951": { "name": [ "retrocerebellar cyst", "retrocerebellar cyst" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1845370" ], "is_a": [ "HP:0002350" ], "is_obsolete": "", "replace_id": "" }, "HP:0006955": { "name": [ "olivopontocerebellar hypoplasia", "olivopontocerebellar hypoplasia" ], "alt_id": [ "HP:0007168" ], "def": "Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.", "synonym": [], "xref": [ "UMLS:C1859341" ], "is_a": [ "HP:0001321", "HP:0012110" ], "is_obsolete": "", "replace_id": "" }, "HP:0006956": { "name": [ "dilation of lateral ventricles", "dilation of lateral ventricle" ], "alt_id": [ "HP:0006796", "HP:0006945", "HP:0007173" ], "def": "", "synonym": [ [ "dilatation of lateral cerebral ventricles", "dilatation of lateral cerebral ventricle" ], [ "enlarged lateral ventricles", "enlarged lateral ventricle" ], [ "lateral ventricle dilatation", "lateral ventricle dilatation" ] ], "xref": [ "UMLS:C1856409" ], "is_a": [ "HP:0002119", "HP:0030047" ], "is_obsolete": "", "replace_id": "" }, "HP:0006957": { "name": [ "loss of ability to walk", "loss of ability to walk" ], "alt_id": [], "def": "", "synonym": [ [ "loss of ability to walk", "loss of ability to walk" ] ], "xref": [ "UMLS:C1849097" ], "is_a": [ "HP:0002505" ], "is_obsolete": "", "replace_id": "" }, "HP:0006958": { "name": [ "abnormal auditory evoked potentials", "abnormal auditory evoke potential" ], "alt_id": [ "HP:0003151", "HP:0004462", "HP:0006923" ], "def": "An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.", "synonym": [ [ "abnormal brainstem auditory - evoked potentials", "abnormal brainstem auditory - evoked potential" ] ], "xref": [ "SNOMEDCT_US:102971006", "UMLS:C0522216" ], "is_a": [ "HP:0030177", "HP:0030178" ], "is_obsolete": "", "replace_id": "" }, "HP:0006959": { "name": [ "proximal spinal muscular atrophy", "proximal spinal muscular atrophy" ], "alt_id": [], "def": "Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.", "synonym": [], "xref": [ "UMLS:C4024957" ], "is_a": [ "HP:0007269" ], "is_obsolete": "", "replace_id": "" }, "HP:0006960": { "name": [ "choroid plexus calcification", "choroid plexus calcification" ], "alt_id": [], "def": "The presence of calcium deposition in the choroid plexus.", "synonym": [ [ "calcified choroid plexus", "calcify choroid plexus" ] ], "xref": [ "UMLS:C1863184" ], "is_a": [ "HP:0002514", "HP:0007376" ], "is_obsolete": "", "replace_id": "" }, "HP:0006961": { "name": [ "jerky head movements", "jerky head movement" ], "alt_id": [], "def": "", "synonym": [ [ "head jerking", "head jerking" ], [ "jerking head movements", "jerk head movement" ] ], "xref": [ "UMLS:C1855568" ], "is_a": [ "HP:0002457" ], "is_obsolete": "", "replace_id": "" }, "HP:0006962": { "name": [ "gait instability , worse in the dark", "gait instability , bad in the dark" ], "alt_id": [], "def": "", "synonym": [ [ "unstable walking , worse in the dark", "unstable walking , bad in the dark" ] ], "xref": [ "UMLS:C1837016" ], "is_a": [ "HP:0002317" ], "is_obsolete": "", "replace_id": "" }, "HP:0006964": { "name": [ "cerebral cortical neurodegeneration", "cerebral cortical neurodegeneration" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1859863" ], "is_a": [ "HP:0007369" ], "is_obsolete": "", "replace_id": "" }, "HP:0006965": { "name": [ "acute necrotizing encephalopathy", "acute necrotizing encephalopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1855020" ], "is_a": [ "HP:0006846" ], "is_obsolete": "", "replace_id": "" }, "HP:0006970": { "name": [ "periventricular leukomalacia", "periventricular leukomalacia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D007969", "SNOMEDCT_US:230769007", "UMLS:C0023529" ], "is_a": [ "HP:0002518" ], "is_obsolete": "", "replace_id": "" }, "HP:0006976": { "name": [ "necrotizing encephalopathy", "necrotizing encephalopathy" ], "alt_id": [], "def": "A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue.", "synonym": [], "xref": [ "UMLS:C1396481" ], "is_a": [ "HP:0001298" ], "is_obsolete": "", "replace_id": "" }, "HP:0006977": { "name": [ "grammar - specific speech disorder", "grammar - specific speech disorder" ], "alt_id": [], "def": "", "synonym": [ [ "grammar - specific speech disorder", "grammar - specific speech disorder" ] ], "xref": [ "UMLS:C4024956" ], "is_a": [ "HP:0002167" ], "is_obsolete": "", "replace_id": "" }, "HP:0006978": { "name": [ "dysmyelinating leukodystrophy", "dysmyelinating leukodystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3278204" ], "is_a": [ "HP:0002415" ], "is_obsolete": "", "replace_id": "" }, "HP:0006979": { "name": [ "sleep - wake cycle disturbance", "sleep - wake cycle disturbance" ], "alt_id": [], "def": "Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake.", "synonym": [ [ "sleep - wake cycle disturbance", "sleep - wake cycle disturbance" ] ], "xref": [ "UMLS:C1833362" ], "is_a": [ "HP:0002360" ], "is_obsolete": "", "replace_id": "" }, "HP:0006980": { "name": [ "progressive leukoencephalopathy", "progressive leukoencephalopathy" ], "alt_id": [], "def": "Leukoencephalopathy that gets more severe with time.", "synonym": [ [ "leukoencephalopathy , progressive", "leukoencephalopathy , progressive" ] ], "xref": [ "UMLS:C1855010" ], "is_a": [ "HP:0002352" ], "is_obsolete": "", "replace_id": "" }, "HP:0006983": { "name": [ "slowly progressive spastic quadriparesis", "slowly progressive spastic quadriparesis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024955" ], "is_a": [ "HP:0002478" ], "is_obsolete": "", "replace_id": "" }, "HP:0006984": { "name": [ "distal sensory loss of all modalities", "distal sensory loss of all modality" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1836527" ], "is_a": [ "HP:0003409" ], "is_obsolete": "", "replace_id": "" }, "HP:0006986": { "name": [ "upper limb spasticity", "upper limb spasticity" ], "alt_id": [], "def": "", "synonym": [ [ "uncontrollable movement in upper arms", "uncontrollable movement in upper arm" ] ], "xref": [ "SNOMEDCT_US:394680009", "UMLS:C1273957" ], "is_a": [ "HP:0001257" ], "is_obsolete": "", "replace_id": "" }, "HP:0006988": { "name": [ "alobar holoprosencephaly", "alobar holoprosencephaly" ], "alt_id": [], "def": "A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged.", "synonym": [], "xref": [ "MSH:D016142", "SNOMEDCT_US:253137003", "UMLS:C0431363" ], "is_a": [ "HP:0001360" ], "is_obsolete": "", "replace_id": "" }, "HP:0006989": { "name": [ "dysplastic corpus callosum", "dysplastic corpus callosum" ], "alt_id": [ "HP:0006996" ], "def": "Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.", "synonym": [ [ "dysgenesis of corpus callosum", "dysgenesis of corpus callosum" ], [ "dysplasia of corpus callosum", "dysplasia of corpus callosum" ] ], "xref": [ "UMLS:C0431369" ], "is_a": [ "HP:0001273" ], "is_obsolete": "", "replace_id": "" }, "HP:0006990": { "name": [ "myelin - dependent gliosis", "myelin - dependent gliosis" ], "alt_id": [], "def": "A type of gliosis that occurs in the vicinity of injured neurons.", "synonym": [], "xref": [ "UMLS:C4024954" ], "is_a": [ "HP:0002171" ], "is_obsolete": "", "replace_id": "" }, "HP:0006992": { "name": [ "anterior basal encephalocele", "anterior basal encephalocele" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850961" ], "is_a": [ "HP:0002084" ], "is_obsolete": "", "replace_id": "" }, "HP:0006994": { "name": [ "diffuse leukoencephalopathy", "diffuse leukoencephalopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1868514" ], "is_a": [ "HP:0002352" ], "is_obsolete": "", "replace_id": "" }, "HP:0006999": { "name": [ "basal ganglia gliosis", "basal ganglion gliosis" ], "alt_id": [], "def": "Focal proliferation of glial cells in the basal ganglia.", "synonym": [ [ "gliosis in the basal ganglia", "gliosis in the basal ganglion" ] ], "xref": [ "UMLS:C1864114", "UMLS:C2750915" ], "is_a": [ "HP:0002134", "HP:0002171" ], "is_obsolete": "", "replace_id": "" }, "HP:0007000": { "name": [ "morning myoclonic jerks", "morning myoclonic jerk" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1847164" ], "is_a": [ "HP:0001336" ], "is_obsolete": "", "replace_id": "" }, "HP:0007001": { "name": [ "loss of purkinje cells in the cerebellar vermis", "loss of purkinje cell in the cerebellar vermis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1849146" ], "is_a": [ "HP:0002334" ], "is_obsolete": "", "replace_id": "" }, "HP:0007002": { "name": [ "motor axonal neuropathy", "motor axonal neuropathy" ], "alt_id": [ "HP:0007349" ], "def": "Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.", "synonym": [ [ "distal motor neuropathy", "distal motor neuropathy" ], [ "length dependent motor neuropathy", "length dependent motor neuropathy" ] ], "xref": [ "UMLS:C1854570", "UMLS:C2749625", "UMLS:C4020811" ], "is_a": [ "HP:0003477" ], "is_obsolete": "", "replace_id": "" }, "HP:0007006": { "name": [ "dorsal column degeneration", "dorsal column degeneration" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024953" ], "is_a": [ "HP:0011397" ], "is_obsolete": "", "replace_id": "" }, "HP:0007007": { "name": [ "cavitation of the basal ganglia", "cavitation of the basal ganglion" ], "alt_id": [ "HP:0007246" ], "def": "The formation of small cavities in the tissue of the basal ganglia.", "synonym": [], "xref": [ "UMLS:C4024952" ], "is_a": [ "HP:0002134" ], "is_obsolete": "", "replace_id": "" }, "HP:0007009": { "name": [ "central nervous system degeneration", "central nervous system degeneration" ], "alt_id": [], "def": "", "synonym": [ [ "cns degeneration", "cns degeneration" ] ], "xref": [ "UMLS:C3277687" ], "is_a": [ "HP:0007367" ], "is_obsolete": "", "replace_id": "" }, "HP:0007010": { "name": [ "poor fine motor coordination", "poor fine motor coordination" ], "alt_id": [], "def": "An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.", "synonym": [ [ "fine motor disability", "fine motor disability" ], [ "fine motor impairment", "fine motor impairment" ], [ "fine motor skill dysfunction", "fine motor skill dysfunction" ], [ "impaired fine motor skills", "impaired fine motor skill" ] ], "xref": [ "UMLS:C1867864" ], "is_a": [ "HP:0002275" ], "is_obsolete": "", "replace_id": "" }, "HP:0007011": { "name": [ "fourth cranial nerve palsy", "fourth cranial nerve palsy" ], "alt_id": [], "def": "Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly.", "synonym": [ [ "trochlear nerve palsy", "trochlear nerve palsy" ] ], "xref": [ "MSH:D020432", "SNOMEDCT_US:20610004", "UMLS:C0271375" ], "is_a": [ "HP:0006824" ], "is_obsolete": "", "replace_id": "" }, "HP:0007015": { "name": [ "poor gross motor coordination", "poor gross motor coordination" ], "alt_id": [], "def": "An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.", "synonym": [ [ "gross motor impairment", "gross motor impairment" ] ], "xref": [ "UMLS:C1867863" ], "is_a": [ "HP:0002275" ], "is_obsolete": "", "replace_id": "" }, "HP:0007016": { "name": [ "corticospinal tract hypoplasia", "corticospinal tract hypoplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1844007" ], "is_a": [ "HP:0007365" ], "is_obsolete": "", "replace_id": "" }, "HP:0007017": { "name": [ "progressive forgetfulness", "progressive forgetfulness" ], "alt_id": [], "def": "", "synonym": [ [ "forgetfullness", "forgetfullness" ] ], "xref": [ "UMLS:C3277688" ], "is_a": [ "HP:0002354" ], "is_obsolete": "", "replace_id": "" }, "HP:0007018": { "name": [ "attention deficit hyperactivity disorder", "attention deficit hyperactivity disorder" ], "alt_id": [ "HP:0001576", "HP:0001577", "HP:0006973" ], "def": "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.", "synonym": [ [ "attention deficit", "attention deficit" ], [ "attention deficit disorder", "attention deficit disorder" ], [ "attention deficit - hyperactivity disorder", "attention deficit - hyperactivity disorder" ], [ "attention deficits", "attention deficit" ], [ "childhood attention deficit / hyperactivity disorder", "childhood attention deficit / hyperactivity disorder" ] ], "xref": [ "MSH:D001289", "SNOMEDCT_US:406506008", "SNOMEDCT_US:7461003", "UMLS:C1263846" ], "is_a": [ "HP:0000736", "HP:0000752" ], "is_obsolete": "", "replace_id": "" }, "HP:0007020": { "name": [ "progressive spastic paraplegia", "progressive spastic paraplegia" ], "alt_id": [ "HP:0006875", "HP:0007255" ], "def": "", "synonym": [], "xref": [ "UMLS:C1855483" ], "is_a": [ "HP:0001258" ], "is_obsolete": "", "replace_id": "" }, "HP:0007021": { "name": [ "pain insensitivity", "pain insensitivity" ], "alt_id": [ "HP:0003404" ], "def": "Inability to perceive painful stimuli.", "synonym": [ [ "absence of pain sensation", "absence of pain sensation" ] ], "xref": [ "SNOMEDCT_US:38433004", "UMLS:C0344307" ], "is_a": [ "HP:0007328" ], "is_obsolete": "", "replace_id": "" }, "HP:0007023": { "name": [ "antenatal intracerebral hemorrhage", "antenatal intracerebral hemorrhage" ], "alt_id": [], "def": "Cerebral hemorrhage that occurs before birth.", "synonym": [ [ "antenatal intracerebral haemorrhage", "antenatal intracerebral haemorrhage" ] ], "xref": [ "UMLS:C1837247" ], "is_a": [ "HP:0001342" ], "is_obsolete": "", "replace_id": "" }, "HP:0007024": { "name": [ "pseudobulbar paralysis", "pseudobulbar paralysis" ], "alt_id": [ "HP:0002201", "HP:0006819" ], "def": "Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.", "synonym": [ [ "pseudobulbar palsy", "pseudobulbar palsy" ], [ "pseudobulbar syndrome", "pseudobulbar syndrome" ] ], "xref": [ "MSH:D020828", "SNOMEDCT_US:7379000", "UMLS:C0033790" ], "is_a": [ "HP:0001260", "HP:0001618", "HP:0002015", "HP:0002200", "HP:0003470" ], "is_obsolete": "", "replace_id": "" }, "HP:0007027": { "name": [ "poorly formed metencephalon", "poorly form metencephalon" ], "alt_id": [], "def": "A morphological abnormality of the metencephalon.", "synonym": [], "xref": [ "UMLS:C4024951" ], "is_a": [ "HP:0011283" ], "is_obsolete": "", "replace_id": "" }, "HP:0007029": { "name": [ "cerebral berry aneurysm", "cerebral berry aneurysm" ], "alt_id": [], "def": "A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.", "synonym": [ [ "cerebral saccular aneurysm", "cerebral saccular aneurysm" ] ], "xref": [ "MSH:D000783", "SNOMEDCT_US:54002007", "UMLS:C2713497" ], "is_a": [ "HP:0004944" ], "is_obsolete": "", "replace_id": "" }, "HP:0007030": { "name": [ "nonprogressive encephalopathy", "nonprogressive encephalopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024950" ], "is_a": [ "HP:0001298" ], "is_obsolete": "", "replace_id": "" }, "HP:0007033": { "name": [ "cerebellar dysplasia", "cerebellar dysplasia" ], "alt_id": [ "HP:0006893" ], "def": "Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.", "synonym": [], "xref": [ "UMLS:C3278322" ], "is_a": [ "HP:0001317" ], "is_obsolete": "", "replace_id": "" }, "HP:0007034": { "name": [ "generalized hyperreflexia", "generalize hyperreflexia" ], "alt_id": [], "def": "", "synonym": [ [ "generalised hyperreflexia", "generalise hyperreflexia" ] ], "xref": [ "UMLS:C4024949" ], "is_a": [ "HP:0001347" ], "is_obsolete": "", "replace_id": "" }, "HP:0007035": { "name": [ "anterior encephalocele", "anterior encephalocele" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024948" ], "is_a": [ "HP:0002084" ], "is_obsolete": "", "replace_id": "" }, "HP:0007036": { "name": [ "hypoplasia of olfactory tract", "hypoplasia of olfactory tract" ], "alt_id": [], "def": "", "synonym": [ [ "underdeveloped olfactory tract", "underdeveloped olfactory tract" ] ], "xref": [ "UMLS:C1856655" ], "is_a": [ "HP:0002977" ], "is_obsolete": "", "replace_id": "" }, "HP:0007039": { "name": [ "symmetric lesions of the basal ganglia", "symmetric lesion of the basal ganglion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024947" ], "is_a": [ "HP:0002134" ], "is_obsolete": "", "replace_id": "" }, "HP:0007041": { "name": [ "chronic lymphocytic meningitis", "chronic lymphocytic meningitis" ], "alt_id": [], "def": "Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).", "synonym": [], "xref": [ "SNOMEDCT_US:230154004", "UMLS:C0393441" ], "is_a": [ "HP:0001287" ], "is_obsolete": "", "replace_id": "" }, "HP:0007042": { "name": [ "focal white matter lesions", "focal white matter lesion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024946" ], "is_a": [ "HP:0002500" ], "is_obsolete": "", "replace_id": "" }, "HP:0007045": { "name": [ "midline brain calcifications", "midline brain calcification" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1855487" ], "is_a": [ "HP:0002514" ], "is_obsolete": "", "replace_id": "" }, "HP:0007047": { "name": [ "atrophy of the dentate nucleus", "atrophy of the dentate nucleus" ], "alt_id": [], "def": "Partial or complete wasting (loss) of dentate nucleus.", "synonym": [], "xref": [ "UMLS:C1857788" ], "is_a": [ "HP:0100321" ], "is_obsolete": "", "replace_id": "" }, "HP:0007048": { "name": [ "large basal ganglia", "large basal ganglion" ], "alt_id": [], "def": "Increased size of the basal ganglia.", "synonym": [], "xref": [ "UMLS:C1859470" ], "is_a": [ "HP:0002134" ], "is_obsolete": "", "replace_id": "" }, "HP:0007052": { "name": [ "multifocal cerebral white matter abnormalities", "multifocal cerebral white matter abnormality" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1833434" ], "is_a": [ "HP:0002500" ], "is_obsolete": "", "replace_id": "" }, "HP:0007054": { "name": [ "hyperreflexia proximally", "hyperreflexia proximally" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1836012" ], "is_a": [ "HP:0001347" ], "is_obsolete": "", "replace_id": "" }, "HP:0007057": { "name": [ "poor hand - eye coordination", "poor hand - eye coordination" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1845864" ], "is_a": [ "HP:0002370" ], "is_obsolete": "", "replace_id": "" }, "HP:0007058": { "name": [ "generalized cerebral atrophy / hypoplasia", "generalize cerebral atrophy / hypoplasia" ], "alt_id": [], "def": "Generalized atrophy or hypoplasia of the cerebrum.", "synonym": [ [ "generalised cerebral atrophy / hypoplasia", "generalised cerebral atrophy / hypoplasia" ], [ "generalised cerebral degeneration / underdevelopment", "generalised cerebral degeneration / underdevelopment" ], [ "generalized cerebral degeneration / underdevelopment", "generalize cerebral degeneration / underdevelopment" ] ], "xref": [ "UMLS:C4024945" ], "is_a": [ "HP:0002059" ], "is_obsolete": "", "replace_id": "" }, "HP:0007063": { "name": [ "aplasia of the inferior half of the cerebellar vermis", "aplasia of the inferior half of the cerebellar vermis" ], "alt_id": [], "def": "", "synonym": [ [ "absent inferior half of the cerebellar vermis", "absent inferior half of the cerebellar vermis" ] ], "xref": [ "UMLS:C1857787" ], "is_a": [ "HP:0006817" ], "is_obsolete": "", "replace_id": "" }, "HP:0007064": { "name": [ "progressive language deterioration", "progressive language deterioration" ], "alt_id": [], "def": "Progressive loss of previously present language abilities.", "synonym": [], "xref": [ "UMLS:C1843793" ], "is_a": [ "HP:0002344" ], "is_obsolete": "", "replace_id": "" }, "HP:0007065": { "name": [ "disorganization of the anterior cerebellar vermis", "disorganization of the anterior cerebellar vermis" ], "alt_id": [], "def": "", "synonym": [ [ "disorganisation of the anterior cerebellar vermis", "disorganisation of the anterior cerebellar vermis" ] ], "xref": [ "UMLS:C1845369" ], "is_a": [ "HP:0002334" ], "is_obsolete": "", "replace_id": "" }, "HP:0007066": { "name": [ "proximal limb muscle stiffness", "proximal limb muscle stiffness" ], "alt_id": [], "def": "Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle.", "synonym": [], "xref": [ "UMLS:C1861460" ], "is_a": [ "HP:0003552", "HP:0009127" ], "is_obsolete": "", "replace_id": "" }, "HP:0007067": { "name": [ "distal peripheral sensory neuropathy", "distal peripheral sensory neuropathy" ], "alt_id": [], "def": "Peripheral sensory neuropathy affecting primarily distal sensation.", "synonym": [ [ "peripheral sensory neuropathy , distal", "peripheral sensory neuropathy , distal" ] ], "xref": [ "UMLS:C4021582" ], "is_a": [ "HP:0000763" ], "is_obsolete": "", "replace_id": "" }, "HP:0007068": { "name": [ "inferior vermis hypoplasia", "inferior vermis hypoplasia" ], "alt_id": [ "HP:0005724" ], "def": "Underdevelopment of the inferior portion of the vermis of cerebellum.", "synonym": [ [ "hypoplasia of inferior vermis", "hypoplasia of inferior vermis" ] ], "xref": [ "UMLS:C1855350" ], "is_a": [ "HP:0001320" ], "is_obsolete": "", "replace_id": "" }, "HP:0007069": { "name": [ "profound static encephalopathy", "profound static encephalopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024944" ], "is_a": [ "HP:0007030" ], "is_obsolete": "", "replace_id": "" }, "HP:0007074": { "name": [ "thick corpus callosum", "thick corpus callosum" ], "alt_id": [ "HP:0006805", "HP:0006807", "HP:0200009", "HP:0200010" ], "def": "Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.", "synonym": [ [ "abnormal size of corpus callosum", "abnormal size of corpus callosum" ], [ "large corpus callosum", "large corpus callosum" ] ], "xref": [ "UMLS:C1835194" ], "is_a": [ "HP:0001273" ], "is_obsolete": "", "replace_id": "" }, "HP:0007076": { "name": [ "extrapyramidal muscular rigidity", "extrapyramidal muscular rigidity" ], "alt_id": [], "def": "Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).", "synonym": [], "xref": [ "UMLS:C1852470" ], "is_a": [ "HP:0002063", "HP:0002071" ], "is_obsolete": "", "replace_id": "" }, "HP:0007078": { "name": [ "decreased amplitude of sensory action potentials", "decrease amplitude of sensory action potential" ], "alt_id": [], "def": "A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.", "synonym": [], "xref": [ "UMLS:C4024943" ], "is_a": [ "HP:0030179" ], "is_obsolete": "", "replace_id": "" }, "HP:0007081": { "name": [ "late - onset muscular dystrophy", "late - onset muscular dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024942" ], "is_a": [ "HP:0003560" ], "is_obsolete": "", "replace_id": "" }, "HP:0007082": { "name": [ "dilated third ventricle", "dilated third ventricle" ], "alt_id": [], "def": "An increase in size of the third ventricle.", "synonym": [], "xref": [ "UMLS:C4024941" ], "is_a": [ "HP:0002119", "HP:0010951" ], "is_obsolete": "", "replace_id": "" }, "HP:0007083": { "name": [ "hyperactive patellar reflex", "hyperactive patellar reflex" ], "alt_id": [], "def": "", "synonym": [ [ "brisk knee jerk", "brisk knee jerk" ], [ "hyperreflexia in knees", "hyperreflexia in knee" ], [ "overactive knee reflex", "overactive knee reflex" ] ], "xref": [ "UMLS:C0240116" ], "is_a": [ "HP:0002395" ], "is_obsolete": "", "replace_id": "" }, "HP:0007086": { "name": [ "social and occupational deterioration", "social and occupational deterioration" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1866986" ], "is_a": [ "HP:0001268" ], "is_obsolete": "", "replace_id": "" }, "HP:0007087": { "name": [ "obsolete involuntary jerking movements", "obsolete involuntary jerking movement" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001336" }, "HP:0007089": { "name": [ "facial - lingual fasciculations", "facial - lingual fasciculation" ], "alt_id": [], "def": "Fasciculations affecting the tongue muscle and the musculature of the face.", "synonym": [], "xref": [ "UMLS:C1862359" ], "is_a": [ "HP:0002380", "HP:0010546" ], "is_obsolete": "", "replace_id": "" }, "HP:0007095": { "name": [ "obsolete frontoparietal polymicrogyria", "obsolete frontoparietal polymicrogyria" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0012650" }, "HP:0007096": { "name": [ "hypoplasia of the optic tract", "hypoplasia of the optic tract" ], "alt_id": [], "def": "", "synonym": [ [ "underdeveloped optic tract", "underdeveloped optic tract" ] ], "xref": [ "UMLS:C1856654" ], "is_a": [ "HP:0011000" ], "is_obsolete": "", "replace_id": "" }, "HP:0007097": { "name": [ "cranial nerve motor loss", "cranial nerve motor loss" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024940" ], "is_a": [ "HP:0001291" ], "is_obsolete": "", "replace_id": "" }, "HP:0007098": { "name": [ "paroxysmal choreoathetosis", "paroxysmal choreoathetosis" ], "alt_id": [ "HP:0002351" ], "def": "Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.", "synonym": [ [ "choreoathetosis , episodic", "choreoathetosis , episodic" ], [ "choreoathetosis , intermittent", "choreoathetosis , intermittent" ] ], "xref": [ "SNOMEDCT_US:49949003", "UMLS:C1851936" ], "is_a": [ "HP:0001266" ], "is_obsolete": "", "replace_id": "" }, "HP:0007099": { "name": [ "arnold - chiari type i malformation", "arnold - chiari type i malformation" ], "alt_id": [ "HP:0002440" ], "def": "Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle.", "synonym": [ [ "arnold chiari type i malformation", "arnold chiari type i malformation" ], [ "chiari i malformation", "chiari i malformation" ] ], "xref": [ "MSH:D001139", "SNOMEDCT_US:253185002", "UMLS:C0750929" ], "is_a": [ "HP:0002308" ], "is_obsolete": "", "replace_id": "" }, "HP:0007100": { "name": [ "progressive ventriculomegaly", "progressive ventriculomegaly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1865119" ], "is_a": [ "HP:0002119" ], "is_obsolete": "", "replace_id": "" }, "HP:0007103": { "name": [ "hypointensity of cerebral white matter on mri", "hypointensity of cerebral white matter on mri" ], "alt_id": [ "HP:0006804" ], "def": "A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.", "synonym": [ [ "white matter hypointensities on mri", "white matter hypointensities on mri" ] ], "xref": [ "UMLS:C4020908" ], "is_a": [ "HP:0002500" ], "is_obsolete": "", "replace_id": "" }, "HP:0007104": { "name": [ "prolonged somatosensory evoked potentials", "prolonged somatosensory evoke potential" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024939" ], "is_a": [ "HP:0007377" ], "is_obsolete": "", "replace_id": "" }, "HP:0007105": { "name": [ "infantile encephalopathy", "infantile encephalopathy" ], "alt_id": [ "HP:0006948", "HP:0007309", "HP:0007353" ], "def": "Encephalopathy with onset in the infantile period.", "synonym": [], "xref": [ "UMLS:C1856408" ], "is_a": [ "HP:0001298" ], "is_obsolete": "", "replace_id": "" }, "HP:0007107": { "name": [ "segmental peripheral demyelination", "segmental peripheral demyelination" ], "alt_id": [], "def": "A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.", "synonym": [], "xref": [ "UMLS:C4024938" ], "is_a": [ "HP:0011096" ], "is_obsolete": "", "replace_id": "" }, "HP:0007108": { "name": [ "demyelinating peripheral neuropathy", "demyelinate peripheral neuropathy" ], "alt_id": [ "HP:0007205" ], "def": "Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.", "synonym": [], "xref": [ "SNOMEDCT_US:23414001", "UMLS:C0270922" ], "is_a": [ "HP:0009830", "HP:0012447" ], "is_obsolete": "", "replace_id": "" }, "HP:0007109": { "name": [ "periventricular cysts", "periventricular cyst" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1839858" ], "is_a": [ "HP:0002518", "HP:0010576" ], "is_obsolete": "", "replace_id": "" }, "HP:0007110": { "name": [ "central hypoventilation", "central hypoventilation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3805839" ], "is_a": [ "HP:0002791" ], "is_obsolete": "", "replace_id": "" }, "HP:0007111": { "name": [ "chronic hepatic encephalopathy", "chronic hepatic encephalopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024937" ], "is_a": [ "HP:0002480" ], "is_obsolete": "", "replace_id": "" }, "HP:0007112": { "name": [ "temporal cortical atrophy", "temporal cortical atrophy" ], "alt_id": [], "def": "Atrophy of the temporal cortex.", "synonym": [], "xref": [ "UMLS:C4024936" ], "is_a": [ "HP:0002120" ], "is_obsolete": "", "replace_id": "" }, "HP:0007115": { "name": [ "orbital encephalocele", "orbital encephalocele" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:15671007", "UMLS:C0271330" ], "is_a": [ "HP:0002084" ], "is_obsolete": "", "replace_id": "" }, "HP:0007117": { "name": [ "corticospinal tract atrophy", "corticospinal tract atrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1838868" ], "is_a": [ "HP:0007372" ], "is_obsolete": "", "replace_id": "" }, "HP:0007123": { "name": [ "subcortical dementia", "subcortical dementia" ], "alt_id": [], "def": "A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.", "synonym": [], "xref": [ "UMLS:C4024935" ], "is_a": [ "HP:0000726" ], "is_obsolete": "", "replace_id": "" }, "HP:0007126": { "name": [ "proximal amyotrophy", "proximal amyotrophy" ], "alt_id": [ "HP:0006792", "HP:0006966", "HP:0008943", "HP:0008980", "HP:0009041" ], "def": "Amyotrophy (muscular atrophy) affecting the proximal musculature.", "synonym": [ [ "muscle atrophy , proximal", "muscle atrophy , proximal" ], [ "proximal muscle atrophy", "proximal muscle atrophy" ], [ "proximal muscle wasting", "proximal muscle waste" ], [ "symmetric proximal muscular atrophy", "symmetric proximal muscular atrophy" ], [ "symmetrical , proximal limb muscle atrophy", "symmetrical , proximal limb muscle atrophy" ], [ "wasting of muscles near the body", "wasting of muscle near the body" ] ], "xref": [ "UMLS:C1850794" ], "is_a": [ "HP:0003202" ], "is_obsolete": "", "replace_id": "" }, "HP:0007129": { "name": [ "cerebellar medulloblastoma", "cerebellar medulloblastoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024934" ], "is_a": [ "HP:0002885" ], "is_obsolete": "", "replace_id": "" }, "HP:0007131": { "name": [ "acute demyelinating polyneuropathy", "acute demyelinate polyneuropathy" ], "alt_id": [], "def": "Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.", "synonym": [], "xref": [ "UMLS:C4024933" ], "is_a": [ "HP:0007108" ], "is_obsolete": "", "replace_id": "" }, "HP:0007132": { "name": [ "pallidal degeneration", "pallidal degeneration" ], "alt_id": [], "def": "Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.", "synonym": [], "xref": [ "SNOMEDCT_US:230302004", "UMLS:C0393577" ], "is_a": [ "HP:0002453", "HP:0012157" ], "is_obsolete": "", "replace_id": "" }, "HP:0007133": { "name": [ "progressive peripheral neuropathy", "progressive peripheral neuropathy" ], "alt_id": [ "HP:0007329" ], "def": "", "synonym": [ [ "progressive polyneuropathy", "progressive polyneuropathy" ] ], "xref": [ "UMLS:C1859178" ], "is_a": [ "HP:0009830" ], "is_obsolete": "", "replace_id": "" }, "HP:0007141": { "name": [ "sensorimotor neuropathy", "sensorimotor neuropathy" ], "alt_id": [ "HP:0007055", "HP:0007237" ], "def": "", "synonym": [ [ "mixed polyneuropathy", "mixed polyneuropathy" ], [ "nerve damage causing decreased feeling and movement", "nerve damage cause decrease feeling and movement" ], [ "sensorimotor peripheral neuropathy", "sensorimotor peripheral neuropathy" ] ], "xref": [ "UMLS:C1112256" ], "is_a": [ "HP:0009830" ], "is_obsolete": "", "replace_id": "" }, "HP:0007146": { "name": [ "bilateral basal ganglia lesions", "bilateral basal ganglion lesion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024932" ], "is_a": [ "HP:0002134" ], "is_obsolete": "", "replace_id": "" }, "HP:0007149": { "name": [ "distal upper limb amyotrophy", "distal upper limb amyotrophy" ], "alt_id": [], "def": "Muscular atrophy of distal arm muscles.", "synonym": [ [ "distal upper limb muscle atrophy", "distal upper limb muscle atrophy" ] ], "xref": [ "UMLS:C4021581" ], "is_a": [ "HP:0003693", "HP:0009129" ], "is_obsolete": "", "replace_id": "" }, "HP:0007153": { "name": [ "progressive extrapyramidal movement disorder", "progressive extrapyramidal movement disorder" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C2748610" ], "is_a": [ "HP:0002071" ], "is_obsolete": "", "replace_id": "" }, "HP:0007156": { "name": [ "asymmetric limb muscle stiffness", "asymmetric limb muscle stiffness" ], "alt_id": [], "def": "Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern.", "synonym": [], "xref": [ "UMLS:C4024931" ], "is_a": [ "HP:0003552", "HP:0009127" ], "is_obsolete": "", "replace_id": "" }, "HP:0007158": { "name": [ "progressive extrapyramidal muscular rigidity", "progressive extrapyramidal muscular rigidity" ], "alt_id": [], "def": "A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).", "synonym": [ [ "progressive extrapyramidal rigidity", "progressive extrapyramidal rigidity" ] ], "xref": [ "UMLS:C4021580" ], "is_a": [ "HP:0007076" ], "is_obsolete": "", "replace_id": "" }, "HP:0007159": { "name": [ "fluctuations in consciousness", "fluctuation in consciousness" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1851959" ], "is_a": [ "HP:0004372" ], "is_obsolete": "", "replace_id": "" }, "HP:0007162": { "name": [ "diffuse demyelination of the cerebral white matter", "diffuse demyelination of the cerebral white matter" ], "alt_id": [], "def": "A diffuse loss of myelin from nerve fibers in the central nervous system.", "synonym": [], "xref": [ "UMLS:C4024930" ], "is_a": [ "HP:0007305" ], "is_obsolete": "", "replace_id": "" }, "HP:0007163": { "name": [ "obsolete corticospinal tract disease in lower limbs", "obsolete corticospinal tract disease in low limb" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007164": { "name": [ "slowed slurred speech", "slow slur speech" ], "alt_id": [], "def": "", "synonym": [ [ "slowed slurred speech", "slow slur speech" ] ], "xref": [ "UMLS:C4024929" ], "is_a": [ "HP:0001350" ], "is_obsolete": "", "replace_id": "" }, "HP:0007165": { "name": [ "periventricular heterotopia", "periventricular heterotopia" ], "alt_id": [ "HP:0002272" ], "def": "A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.", "synonym": [ [ "periventricular gray matter heterotopia", "periventricular gray matter heterotopia" ], [ "periventricular grey matter heterotopia", "periventricular grey matter heterotopia" ], [ "periventricular neuronal heterotopia", "periventricular neuronal heterotopia" ], [ "subependymal gray matter heterotopia", "subependymal gray matter heterotopia" ], [ "subependymal grey matter heterotopia", "subependymal grey matter heterotopia" ], [ "subependymal neuronal heterotopia", "subependymal neuronal heterotopia" ] ], "xref": [ "UMLS:C1849173" ], "is_a": [ "HP:0002282" ], "is_obsolete": "", "replace_id": "" }, "HP:0007166": { "name": [ "paroxysmal dyskinesia", "paroxysmal dyskinesia" ], "alt_id": [], "def": "Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.", "synonym": [ [ "involuntary dystonic or choreiform movements", "involuntary dystonic or choreiform movement" ] ], "xref": [ "MSH:D002819", "UMLS:C0752210", "UMLS:C1836174" ], "is_a": [ "HP:0004305" ], "is_obsolete": "", "replace_id": "" }, "HP:0007178": { "name": [ "motor polyneuropathy", "motor polyneuropathy" ], "alt_id": [ "HP:0007278" ], "def": "", "synonym": [ [ "peripheral motor neuropathy", "peripheral motor neuropathy" ] ], "xref": [ "MSH:D009443", "MSH:D011115", "SNOMEDCT_US:85423005", "SNOMEDCT_US:95663000", "UMLS:C0235025", "UMLS:C0271683" ], "is_a": [ "HP:0009830" ], "is_obsolete": "", "replace_id": "" }, "HP:0007179": { "name": [ "absent smooth pursuit", "absent smooth pursuit" ], "alt_id": [], "def": "A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.", "synonym": [], "xref": [ "UMLS:C4024928" ], "is_a": [ "HP:0007772" ], "is_obsolete": "", "replace_id": "" }, "HP:0007181": { "name": [ "interosseus muscle atrophy", "interosseus muscle atrophy" ], "alt_id": [], "def": "Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.", "synonym": [ [ "interosseous muscular atrophy", "interosseous muscular atrophy" ] ], "xref": [ "UMLS:C1846829" ], "is_a": [ "HP:0003693" ], "is_obsolete": "", "replace_id": "" }, "HP:0007182": { "name": [ "peripheral hypomyelination", "peripheral hypomyelination" ], "alt_id": [ "HP:0007012", "HP:0007160", "HP:0007226" ], "def": "Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.", "synonym": [], "xref": [ "UMLS:C4024927" ], "is_a": [ "HP:0003130" ], "is_obsolete": "", "replace_id": "" }, "HP:0007183": { "name": [ "focal t2 hyperintense basal ganglia lesion", "focal t2 hyperintense basal ganglion lesion" ], "alt_id": [], "def": "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.", "synonym": [ [ "hyperintense lesions in the basal ganglia on mri", "hyperintense lesion in the basal ganglion on mri" ] ], "xref": [ "UMLS:C1865351", "UMLS:C4024926" ], "is_a": [ "HP:0012751" ], "is_obsolete": "", "replace_id": "" }, "HP:0007185": { "name": [ "loss of consciousness", "loss of consciousness" ], "alt_id": [], "def": "", "synonym": [ [ "loss of consciousness", "loss of consciousness" ], [ "passing out", "pass out" ] ], "xref": [ "MSH:D014474", "SNOMEDCT_US:418107008", "SNOMEDCT_US:419045004", "UMLS:C0041657" ], "is_a": [ "HP:0004372" ], "is_obsolete": "", "replace_id": "" }, "HP:0007187": { "name": [ "focal lissencephaly", "focal lissencephaly" ], "alt_id": [], "def": "A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.", "synonym": [], "xref": [ "UMLS:C1855230" ], "is_a": [ "HP:0001339" ], "is_obsolete": "", "replace_id": "" }, "HP:0007188": { "name": [ "congenital facial diplegia", "congenital facial diplegia" ], "alt_id": [], "def": "Facial diplegia (that is, bilateral facial palsy) with congenital onset.", "synonym": [ [ "congenital bilateral facial palsy", "congenital bilateral facial palsy" ], [ "congenital bilateral facial weakness", "congenital bilateral facial weakness" ] ], "xref": [ "MSH:C531747", "UMLS:C0853240" ], "is_a": [ "HP:0001349" ], "is_obsolete": "", "replace_id": "" }, "HP:0007190": { "name": [ "neuronal loss in the cerebral cortex", "neuronal loss in the cerebral cortex" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1849485" ], "is_a": [ "HP:0002538" ], "is_obsolete": "", "replace_id": "" }, "HP:0007193": { "name": [ "bilateral tonic - clonic seizure on awakening", "bilateral tonic - clonic seizure on awaken" ], "alt_id": [ "HP:0007008" ], "def": "Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day).", "synonym": [ [ "generalised tonic - clonic seizures on awakening", "generalise tonic - clonic seizure on awaken" ], [ "generalized tonic - clonic seizures on awakening", "generalize tonic - clonic seizure on awaken" ], [ "morning generalised tonic - clonic seizures", "morning generalise tonic - clonic seizure" ], [ "morning generalized tonic - clonic seizures", "morning generalize tonic - clonic seizure" ] ], "xref": [ "UMLS:C1847165" ], "is_a": [ "HP:0002069" ], "is_obsolete": "", "replace_id": "" }, "HP:0007199": { "name": [ "progressive spastic paraparesis", "progressive spastic paraparesis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C0747251" ], "is_a": [ "HP:0002313" ], "is_obsolete": "", "replace_id": "" }, "HP:0007200": { "name": [ "episodic hypersomnia", "episodic hypersomnia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024925" ], "is_a": [ "HP:0004372", "HP:0100786" ], "is_obsolete": "", "replace_id": "" }, "HP:0007201": { "name": [ "cerebral artery atherosclerosis", "cerebral artery atherosclerosis" ], "alt_id": [], "def": "Atherosclerosis (HP:0002621) of a cerebral artery.", "synonym": [ [ "plaque build - up in cerebral artery", "plaque build - up in cerebral artery" ] ], "xref": [ "UMLS:C4024924" ], "is_a": [ "HP:0002621", "HP:0009145" ], "is_obsolete": "", "replace_id": "" }, "HP:0007204": { "name": [ "diffuse white matter abnormalities", "diffuse white matter abnormality" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024923" ], "is_a": [ "HP:0002500" ], "is_obsolete": "", "replace_id": "" }, "HP:0007206": { "name": [ "hemimegalencephaly", "hemimegalencephaly" ], "alt_id": [], "def": "Enlargement of all or parts of one cerebral hemisphere.", "synonym": [], "xref": [ "MSH:D065705", "SNOMEDCT_US:253170008", "UMLS:C0431391" ], "is_a": [ "HP:0001355" ], "is_obsolete": "", "replace_id": "" }, "HP:0007207": { "name": [ "photosensitive tonic - clonic seizure", "photosensitive tonic - clonic seizure" ], "alt_id": [], "def": "Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.", "synonym": [ [ "photically induced tonic - clonic seizure", "photically induce tonic - clonic seizure" ], [ "photosensitive tonic - clonic seizures", "photosensitive tonic - clonic seizure" ], [ "seizures , tonic - clonic , photosensitive", "seizure , tonic - clonic , photosensitive" ] ], "xref": [ "UMLS:C1846131" ], "is_a": [ "HP:0020216", "HP:0025190" ], "is_obsolete": "", "replace_id": "" }, "HP:0007208": { "name": [ "irregular myelin loops", "irregular myelin loop" ], "alt_id": [], "def": "Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.", "synonym": [], "xref": [ "UMLS:C4024922" ], "is_a": [ "HP:0030173" ], "is_obsolete": "", "replace_id": "" }, "HP:0007209": { "name": [ "facial paralysis", "facial paralysis" ], "alt_id": [ "HP:0007358" ], "def": "Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).", "synonym": [ [ "facial paralysis", "facial paralysis" ], [ "facial paresis", "facial paresis" ] ], "xref": [ "MSH:D005158", "SNOMEDCT_US:280816001", "SNOMEDCT_US:95666008", "UMLS:C0015469", "UMLS:C0427055" ], "is_a": [ "HP:0001293", "HP:0003470", "HP:0030319" ], "is_obsolete": "", "replace_id": "" }, "HP:0007210": { "name": [ "lower limb amyotrophy", "low limb amyotrophy" ], "alt_id": [], "def": "Muscular atrophy affecting the lower limb.", "synonym": [], "xref": [ "UMLS:C4024921" ], "is_a": [ "HP:0003202" ], "is_obsolete": "", "replace_id": "" }, "HP:0007215": { "name": [ "periodic hyperkalemic paralysis", "periodic hyperkalemic paralysis" ], "alt_id": [], "def": "Episodes of muscle weakness associated with elevated levels of potassium in the blood.", "synonym": [ [ "hyperkalemic periodic paralysis", "hyperkalemic periodic paralysis" ] ], "xref": [ "MSH:D020513", "SNOMEDCT_US:304737009", "UMLS:C0238357" ], "is_a": [ "HP:0003768" ], "is_obsolete": "", "replace_id": "" }, "HP:0007220": { "name": [ "demyelinating motor neuropathy", "demyelinate motor neuropathy" ], "alt_id": [], "def": "Demyelination of peripheral motor nerves.", "synonym": [], "xref": [ "UMLS:C1969462" ], "is_a": [ "HP:0007108", "HP:0007178" ], "is_obsolete": "", "replace_id": "" }, "HP:0007221": { "name": [ "progressive truncal ataxia", "progressive truncal ataxia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1849143" ], "is_a": [ "HP:0002078" ], "is_obsolete": "", "replace_id": "" }, "HP:0007227": { "name": [ "macrogyria", "macrogyria" ], "alt_id": [], "def": "Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum.", "synonym": [], "xref": [ "MSH:D054082", "SNOMEDCT_US:23024003", "UMLS:C0266483" ], "is_a": [ "HP:0002536" ], "is_obsolete": "", "replace_id": "" }, "HP:0007229": { "name": [ "intracerebral periventricular calcifications", "intracerebral periventricular calcification" ], "alt_id": [], "def": "The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.", "synonym": [], "xref": [ "UMLS:C1837246" ], "is_a": [ "HP:0002514" ], "is_obsolete": "", "replace_id": "" }, "HP:0007230": { "name": [ "decreased distal sensory nerve action potential", "decrease distal sensory nerve action potential" ], "alt_id": [], "def": "A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.", "synonym": [], "xref": [ "UMLS:C4024920" ], "is_a": [ "HP:0007078" ], "is_obsolete": "", "replace_id": "" }, "HP:0007232": { "name": [ "spinocerebellar tract disease in lower limbs", "spinocerebellar tract disease in low limb" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024919" ], "is_a": [ "HP:0002503" ], "is_obsolete": "", "replace_id": "" }, "HP:0007233": { "name": [ "clusters of axonal regeneration", "cluster of axonal regeneration" ], "alt_id": [], "def": "Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.", "synonym": [], "xref": [ "UMLS:C1843169" ], "is_a": [ "HP:0003450" ], "is_obsolete": "", "replace_id": "" }, "HP:0007236": { "name": [ "recurrent subcortical infarcts", "recurrent subcortical infarct" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024918" ], "is_a": [ "HP:0010993" ], "is_obsolete": "", "replace_id": "" }, "HP:0007238": { "name": [ "nonarteriosclerotic cerebral calcification", "nonarteriosclerotic cerebral calcification" ], "alt_id": [], "def": "", "synonym": [ [ "cerebral calcification , nonarteriosclerotic", "cerebral calcification , nonarteriosclerotic" ] ], "xref": [ "UMLS:C4021579" ], "is_a": [ "HP:0002514" ], "is_obsolete": "", "replace_id": "" }, "HP:0007239": { "name": [ "congenital encephalopathy", "congenital encephalopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024917" ], "is_a": [ "HP:0001298" ], "is_obsolete": "", "replace_id": "" }, "HP:0007240": { "name": [ "progressive gait ataxia", "progressive gait ataxia" ], "alt_id": [ "HP:0002142" ], "def": "A type of gait ataxia displaying progression of clinical severity.", "synonym": [ [ "gait ataxia , progressive", "gait ataxia , progressive" ] ], "xref": [ "UMLS:C1843885" ], "is_a": [ "HP:0002066" ], "is_obsolete": "", "replace_id": "" }, "HP:0007249": { "name": [ "decreased number of small peripheral myelinated nerve fibers", "decreased number of small peripheral myelinated nerve fiber" ], "alt_id": [], "def": "", "synonym": [ [ "decreased number of small peripheral myelinated nerve fibres", "decreased number of small peripheral myelinated nerve fibre" ] ], "xref": [ "UMLS:C4024916" ], "is_a": [ "HP:0003380" ], "is_obsolete": "", "replace_id": "" }, "HP:0007250": { "name": [ "recurrent external ophthalmoplegia", "recurrent external ophthalmoplegia" ], "alt_id": [], "def": "Alternating and recurrent weakness of the external ocular muscles.", "synonym": [], "xref": [ "UMLS:C4024915" ], "is_a": [ "HP:0000544" ], "is_obsolete": "", "replace_id": "" }, "HP:0007256": { "name": [ "abnormal pyramidal sign", "abnormal pyramidal sign" ], "alt_id": [ "HP:0003488", "HP:0007161", "HP:0007225", "HP:0007275", "HP:0007324", "HP:0007347" ], "def": "Functional neurological abnormalities related to dysfunction of the pyramidal tract.", "synonym": [ [ "corticospinal signs", "corticospinal sign" ], [ "pyramidal signs", "pyramidal sign" ], [ "pyramidal tract signs", "pyramidal tract sign" ] ], "xref": [ "SNOMEDCT_US:14648003", "UMLS:C0234132" ], "is_a": [ "HP:0002493" ], "is_obsolete": "", "replace_id": "" }, "HP:0007258": { "name": [ "severe demyelination of the white matter", "severe demyelination of the white matter" ], "alt_id": [], "def": "A severe loss of myelin from nerve fibers in the central nervous system.", "synonym": [], "xref": [ "UMLS:C1856001" ], "is_a": [ "HP:0007305" ], "is_obsolete": "", "replace_id": "" }, "HP:0007260": { "name": [ "type ii lissencephaly", "type ii lissencephaly" ], "alt_id": [ "HP:0006853" ], "def": "A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers.", "synonym": [ [ "cobblestone lissencephaly", "cobblestone lissencephaly" ], [ "lissencephaly type ii", "lissencephaly type ii" ], [ "type 2 lissencephaly", "type 2 lissencephaly" ] ], "xref": [ "MSH:D054222", "SNOMEDCT_US:253149002", "UMLS:C0431376" ], "is_a": [ "HP:0001339" ], "is_obsolete": "", "replace_id": "" }, "HP:0007262": { "name": [ "symmetric peripheral demyelination", "symmetric peripheral demyelination" ], "alt_id": [], "def": "A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.", "synonym": [], "xref": [ "UMLS:C4024914" ], "is_a": [ "HP:0011096" ], "is_obsolete": "", "replace_id": "" }, "HP:0007263": { "name": [ "spinocerebellar atrophy", "spinocerebellar atrophy" ], "alt_id": [], "def": "Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord.", "synonym": [], "xref": [ "MSH:D020754", "SNOMEDCT_US:129609000", "UMLS:C0087012" ], "is_a": [ "HP:0001272" ], "is_obsolete": "", "replace_id": "" }, "HP:0007265": { "name": [ "absent mesencephalon", "absent mesencephalon" ], "alt_id": [], "def": "Agenesis of the midbrain.", "synonym": [], "xref": [ "UMLS:C4024913" ], "is_a": [ "HP:0002418" ], "is_obsolete": "", "replace_id": "" }, "HP:0007266": { "name": [ "cerebral dysmyelination", "cerebral dysmyelination" ], "alt_id": [ "HP:0007134", "HP:0007217" ], "def": "Defective structure and function of myelin sheaths of the white matter of the brain.", "synonym": [ [ "areas of dysmyelination on mri", "area of dysmyelination on mri" ], [ "dysmyelination of the brain", "dysmyelination of the brain" ], [ "white matter dysmyelination / demyelination", "white matter dysmyelination / demyelination" ] ], "xref": [ "UMLS:C1854885", "UMLS:C4020810" ], "is_a": [ "HP:0002500", "HP:0011400" ], "is_obsolete": "", "replace_id": "" }, "HP:0007267": { "name": [ "chronic axonal neuropathy", "chronic axonal neuropathy" ], "alt_id": [ "HP:0003446" ], "def": "An abnormality characterized by chronic impairment of the normal functioning of the axons.", "synonym": [ [ "chronic sural axonal neuropathy", "chronic sural axonal neuropathy" ] ], "xref": [ "UMLS:C4021578" ], "is_a": [ "HP:0003477" ], "is_obsolete": "", "replace_id": "" }, "HP:0007268": { "name": [ "aprosencephaly", "aprosencephaly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D000757", "SNOMEDCT_US:277922001", "UMLS:C0431349" ], "is_a": [ "HP:0007364" ], "is_obsolete": "", "replace_id": "" }, "HP:0007269": { "name": [ "spinal muscular atrophy", "spinal muscular atrophy" ], "alt_id": [], "def": "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.", "synonym": [ [ "spinal muscle degeneration", "spinal muscle degeneration" ], [ "spinal muscle wasting", "spinal muscle waste" ] ], "xref": [ "MSH:D009134", "SNOMEDCT_US:5262007", "UMLS:C0026847" ], "is_a": [ "HP:0003202" ], "is_obsolete": "", "replace_id": "" }, "HP:0007270": { "name": [ "atypical absence seizure", "atypical absence seizure" ], "alt_id": [], "def": "An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.", "synonym": [ [ "atypical absence", "atypical absence" ], [ "atypical absence seizures", "atypical absence seizure" ], [ "atypical petit mal seizures", "atypical petit mal seizure" ] ], "xref": [ "SNOMEDCT_US:23374007", "UMLS:C0595948" ], "is_a": [ "HP:0002121" ], "is_obsolete": "", "replace_id": "" }, "HP:0007271": { "name": [ "occipital myelomeningocele", "occipital myelomeningocele" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024912" ], "is_a": [ "HP:0002436" ], "is_obsolete": "", "replace_id": "" }, "HP:0007272": { "name": [ "progressive psychomotor deterioration", "progressive psychomotor deterioration" ], "alt_id": [ "HP:0006856" ], "def": "", "synonym": [ [ "progressive mental and motor deterioration", "progressive mental and motor deterioration" ] ], "xref": [ "UMLS:C1856565" ], "is_a": [ "HP:0002344" ], "is_obsolete": "", "replace_id": "" }, "HP:0007274": { "name": [ "recurrent bacterial meningitis", "recurrent bacterial meningitis" ], "alt_id": [], "def": "An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.", "synonym": [], "xref": [ "UMLS:C1845604" ], "is_a": [ "HP:0006946" ], "is_obsolete": "", "replace_id": "" }, "HP:0007277": { "name": [ "paucity of anterior horn motor neurons", "paucity of anterior horn motor neuron" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C2673351" ], "is_a": [ "HP:0002450" ], "is_obsolete": "", "replace_id": "" }, "HP:0007280": { "name": [ "acute infantile spinal muscular atrophy", "acute infantile spinal muscular atrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024911" ], "is_a": [ "HP:0007269" ], "is_obsolete": "", "replace_id": "" }, "HP:0007281": { "name": [ "developmental stagnation", "developmental stagnation" ], "alt_id": [ "HP:0007130", "HP:0007198" ], "def": "A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.", "synonym": [ [ "developmental arrest", "developmental arrest" ] ], "xref": [ "UMLS:C1848980" ], "is_a": [ "HP:0012759" ], "is_obsolete": "", "replace_id": "" }, "HP:0007285": { "name": [ "facial palsy secondary to cranial hyperostosis", "facial palsy secondary to cranial hyperostosis" ], "alt_id": [], "def": "Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.", "synonym": [ [ "facial palsy caused by enlargement of cranial bones", "facial palsy cause by enlargement of cranial bone" ], [ "facial palsy caused by excessive growth of facial bones", "facial palsy cause by excessive growth of facial bone" ], [ "facial palsy caused by overgrowth of cranial bones", "facial palsy cause by overgrowth of cranial bone" ], [ "facial palsy secondary to hypertrophy of cranial bones", "facial palsy secondary to hypertrophy of cranial bone" ] ], "xref": [ "UMLS:C1849260" ], "is_a": [ "HP:0005465" ], "is_obsolete": "", "replace_id": "" }, "HP:0007286": { "name": [ "horizontal jerk nystagmus", "horizontal jerk nystagmus" ], "alt_id": [], "def": "Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other.", "synonym": [], "xref": [ "UMLS:C4024910" ], "is_a": [ "HP:0000666" ], "is_obsolete": "", "replace_id": "" }, "HP:0007289": { "name": [ "limb fasciculations", "limb fasciculation" ], "alt_id": [ "HP:0007049" ], "def": "Fasciculations affecting the musculature of the arms and legs.", "synonym": [ [ "limb fasciculation", "limb fasciculation" ] ], "xref": [ "UMLS:C1854657" ], "is_a": [ "HP:0002380", "HP:0010546", "HP:0040064" ], "is_obsolete": "", "replace_id": "" }, "HP:0007291": { "name": [ "posterior fossa cyst", "posterior fossa cyst" ], "alt_id": [ "HP:0006985" ], "def": "A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.", "synonym": [], "xref": [ "UMLS:C1857353" ], "is_a": [ "HP:0000932", "HP:0010576" ], "is_obsolete": "", "replace_id": "" }, "HP:0007293": { "name": [ "anterior sacral meningocele", "anterior sacral meningocele" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1867776" ], "is_a": [ "HP:0005765" ], "is_obsolete": "", "replace_id": "" }, "HP:0007295": { "name": [ "chaotic rapid conjugate ocular movements", "chaotic rapid conjugate ocular movement" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024909" ], "is_a": [ "HP:0012547" ], "is_obsolete": "", "replace_id": "" }, "HP:0007299": { "name": [ "dysfunction of lateral corticospinal tracts", "dysfunction of lateral corticospinal tract" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1832671" ], "is_a": [ "HP:0002493" ], "is_obsolete": "", "replace_id": "" }, "HP:0007301": { "name": [ "oromotor apraxia", "oromotor apraxia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021845" ], "is_a": [ "HP:0002186" ], "is_obsolete": "", "replace_id": "" }, "HP:0007302": { "name": [ "bipolar affective disorder", "bipolar affective disorder" ], "alt_id": [ "HP:0000755" ], "def": "", "synonym": [ [ "bipolar disorder", "bipolar disorder" ] ], "xref": [ "MSH:D001714", "SNOMEDCT_US:13746004", "UMLS:C0005586" ], "is_a": [ "HP:0031466", "HP:0100754" ], "is_obsolete": "", "replace_id": "" }, "HP:0007305": { "name": [ "cns demyelination", "cns demyelination" ], "alt_id": [ "HP:0007222" ], "def": "A loss of myelin from nerve fibers in the central nervous system.", "synonym": [ [ "demyelination in central white matter", "demyelination in central white matter" ] ], "xref": [ "UMLS:C0338474" ], "is_a": [ "HP:0011400" ], "is_obsolete": "", "replace_id": "" }, "HP:0007307": { "name": [ "rapid neurologic deterioration", "rapid neurologic deterioration" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024908" ], "is_a": [ "HP:0002344" ], "is_obsolete": "", "replace_id": "" }, "HP:0007308": { "name": [ "extrapyramidal dyskinesia", "extrapyramidal dyskinesia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1848528" ], "is_a": [ "HP:0002071", "HP:0100660" ], "is_obsolete": "", "replace_id": "" }, "HP:0007311": { "name": [ "short stepped shuffling gait", "short step shuffle gait" ], "alt_id": [], "def": "", "synonym": [ [ "short stepped shuffling walk", "short step shuffle walk" ] ], "xref": [ "UMLS:C3805715" ], "is_a": [ "HP:0002362" ], "is_obsolete": "", "replace_id": "" }, "HP:0007313": { "name": [ "cerebral degeneration", "cerebral degeneration" ], "alt_id": [ "HP:0006874" ], "def": "", "synonym": [ [ "neuroaxonal degeneration in the brain", "neuroaxonal degeneration in the brain" ] ], "xref": [ "SNOMEDCT_US:418143002", "SNOMEDCT_US:52522001", "UMLS:C0154671" ], "is_a": [ "HP:0007369" ], "is_obsolete": "", "replace_id": "" }, "HP:0007314": { "name": [ "obsolete white matter neuronal heterotopia", "obsolete white matter neuronal heterotopia" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0002282" }, "HP:0007316": { "name": [ "obsolete involuntary writhing movements", "obsolete involuntary writhing movement" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0002305" }, "HP:0007321": { "name": [ "deep white matter hypodensities", "deep white matter hypodensities" ], "alt_id": [], "def": "Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter.", "synonym": [ [ "deep cerebral white matter hypodensities", "deep cerebral white matter hypodensities" ] ], "xref": [ "UMLS:C1856979" ], "is_a": [ "HP:0007103" ], "is_obsolete": "", "replace_id": "" }, "HP:0007325": { "name": [ "generalized dystonia", "generalize dystonia" ], "alt_id": [], "def": "A type of dystonia that affects all or most of the body.", "synonym": [ [ "generalised dystonia", "generalise dystonia" ] ], "xref": [ "SNOMEDCT_US:425492002", "UMLS:C1848954" ], "is_a": [ "HP:0001332" ], "is_obsolete": "", "replace_id": "" }, "HP:0007326": { "name": [ "progressive choreoathetosis", "progressive choreoathetosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1860216" ], "is_a": [ "HP:0001266" ], "is_obsolete": "", "replace_id": "" }, "HP:0007327": { "name": [ "mixed demyelinating and axonal polyneuropathy", "mixed demyelinating and axonal polyneuropathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024907" ], "is_a": [ "HP:0009830", "HP:0012447" ], "is_obsolete": "", "replace_id": "" }, "HP:0007328": { "name": [ "impaired pain sensation", "impaired pain sensation" ], "alt_id": [ "HP:0002713" ], "def": "Reduced ability to perceive painful stimuli.", "synonym": [ [ "decreased pain sensation", "decrease pain sensation" ], [ "decreased pinprick sensation", "decrease pinprick sensation" ], [ "impaired pain sensation", "impaired pain sensation" ] ], "xref": [ "UMLS:C1837522" ], "is_a": [ "HP:0010832" ], "is_obsolete": "", "replace_id": "" }, "HP:0007330": { "name": [ "frontal encephalocele", "frontal encephalocele" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D004677", "SNOMEDCT_US:253103006", "UMLS:C0431289" ], "is_a": [ "HP:0002084" ], "is_obsolete": "", "replace_id": "" }, "HP:0007332": { "name": [ "focal hemifacial clonic seizure", "focal hemifacial clonic seizure" ], "alt_id": [], "def": "Focal seizure characterized at onset by clonic movements affecting half of the face.", "synonym": [ [ "hemifacial seizures", "hemifacial seizure" ] ], "xref": [ "UMLS:C4024906" ], "is_a": [ "HP:0002266" ], "is_obsolete": "", "replace_id": "" }, "HP:0007333": { "name": [ "hypoplasia of the frontal lobes", "hypoplasia of the frontal lobe" ], "alt_id": [ "HP:0002424" ], "def": "Underdevelopment of the frontal lobe of the cerebrum.", "synonym": [ [ "frontal lobe hypoplasia", "frontal lobe hypoplasia" ], [ "hypoplastic frontal lobes", "hypoplastic frontal lobe" ], [ "underdeveloped frontal lobe", "underdeveloped frontal lobe" ] ], "xref": [ "UMLS:C1849172" ], "is_a": [ "HP:0002538", "HP:0006872" ], "is_obsolete": "", "replace_id": "" }, "HP:0007334": { "name": [ "bilateral tonic - clonic seizure with focal onset", "bilateral tonic - clonic seizure with focal onset" ], "alt_id": [ "HP:0002602" ], "def": "A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.", "synonym": [ [ "'generalised ' tonic - clonic seizure with focal onset", "'generalised ' tonic - clonic seizure with focal onset" ], [ "'generalised ' tonic - clonic seizure with partial onset", "'generalised ' tonic - clonic seizure with partial onset" ], [ "'generalized ' tonic - clonic seizure with focal onset", "'generalized ' tonic - clonic seizure with focal onset" ], [ "'generalized ' tonic - clonic seizure with partial onset", "'generalized ' tonic - clonic seizure with partial onset" ], [ "focal seizure with secondary generalisation", "focal seizure with secondary generalisation" ], [ "focal seizure with secondary generalization", "focal seizure with secondary generalization" ], [ "focal to bilateral tonic - clonic seizure", "focal to bilateral tonic - clonic seizure" ], [ "generalised tonic - clonic seizures with focal onset", "generalise tonic - clonic seizure with focal onset" ], [ "generalized tonic - clonic seizures with focal onset", "generalize tonic - clonic seizure with focal onset" ], [ "partial seizure with secondary generalisation", "partial seizure with secondary generalisation" ], [ "partial seizure with secondary generalization", "partial seizure with secondary generalization" ], [ "partial seizures with secondary generalisation", "partial seizure with secondary generalisation" ], [ "partial seizures with secondary generalization", "partial seizure with secondary generalization" ], [ "secondarily generalised tonic - clonic seizure", "secondarily generalise tonic - clonic seizure" ], [ "secondarily generalised tonic - clonic seizures", "secondarily generalise tonic - clonic seizure" ], [ "secondarily generalized tonic - clonic seizure", "secondarily generalize tonic - clonic seizure" ], [ "secondary generalised tonic clonic seizures", "secondary generalise tonic clonic seizure" ], [ "secondary generalised tonic - clonic seizures", "secondary generalise tonic - clonic seizure" ], [ "secondary generalized tonic clonic seizures", "secondary generalize tonic clonic seizure" ], [ "secondary generalized tonic - clonic seizures", "secondary generalize tonic - clonic seizure" ] ], "xref": [ "UMLS:C0877017" ], "is_a": [ "HP:0002069", "HP:0007359" ], "is_obsolete": "", "replace_id": "" }, "HP:0007335": { "name": [ "recurrent encephalopathy", "recurrent encephalopathy" ], "alt_id": [ "HP:0006947" ], "def": "Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.", "synonym": [ [ "recurrent cerebellar and extrapyramidal encephalopathy", "recurrent cerebellar and extrapyramidal encephalopathy" ] ], "xref": [ "UMLS:C1850719" ], "is_a": [ "HP:0001298" ], "is_obsolete": "", "replace_id": "" }, "HP:0007338": { "name": [ "hypermetric saccades", "hypermetric saccade" ], "alt_id": [], "def": "A saccade that overshoots the target with the dynamic saccade.", "synonym": [], "xref": [ "SNOMEDCT_US:246769000", "UMLS:C0423083" ], "is_a": [ "HP:0000570" ], "is_obsolete": "", "replace_id": "" }, "HP:0007340": { "name": [ "lower limb muscle weakness", "low limb muscle weakness" ], "alt_id": [ "HP:0002065", "HP:0002477", "HP:0009047" ], "def": "Weakness of the muscles of the legs.", "synonym": [ [ "leg weakness", "leg weakness" ], [ "lower extremity weakness", "low extremity weakness" ], [ "lower limb muscle weakness", "low limb muscle weakness" ], [ "lower limb weakness", "low limb weakness" ], [ "muscle weakness in lower limbs", "muscle weakness in low limb" ] ], "xref": [ "SNOMEDCT_US:249945007", "UMLS:C0427068", "UMLS:C1836296" ], "is_a": [ "HP:0003690" ], "is_obsolete": "", "replace_id": "" }, "HP:0007341": { "name": [ "diffuse swelling of cerebral white matter", "diffuse swelling of cerebral white matter" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1858855" ], "is_a": [ "HP:0002500" ], "is_obsolete": "", "replace_id": "" }, "HP:0007343": { "name": [ "abnormal morphology of the limbic system", "abnormal morphology of the limbic system" ], "alt_id": [], "def": "Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex].", "synonym": [ [ "limbic malformation", "limbic malformation" ] ], "xref": [ "UMLS:C1863392" ], "is_a": [ "HP:0100547" ], "is_obsolete": "", "replace_id": "" }, "HP:0007344": { "name": [ "atrophy / degeneration involving the spinal cord", "atrophy / degeneration involve the spinal cord" ], "alt_id": [], "def": "", "synonym": [ [ "atrophic and degenerative changes in the spinal cord", "atrophic and degenerative change in the spinal cord" ] ], "xref": [ "UMLS:C1843858" ], "is_a": [ "HP:0002143", "HP:0007367" ], "is_obsolete": "", "replace_id": "" }, "HP:0007346": { "name": [ "subcortical white matter calcifications", "subcortical white matter calcification" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1851430" ], "is_a": [ "HP:0002500", "HP:0002514" ], "is_obsolete": "", "replace_id": "" }, "HP:0007348": { "name": [ "hypoplasia of the pyramidal tract", "hypoplasia of the pyramidal tract" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850871" ], "is_a": [ "HP:0007363" ], "is_obsolete": "", "replace_id": "" }, "HP:0007350": { "name": [ "hyperreflexia in upper limbs", "hyperreflexia in upper limb" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1843175" ], "is_a": [ "HP:0001347" ], "is_obsolete": "", "replace_id": "" }, "HP:0007351": { "name": [ "upper limb postural tremor", "upper limb postural tremor" ], "alt_id": [ "HP:0007297" ], "def": "A type of tremors that is triggered by holding an arm in a fixed position.", "synonym": [ [ "postural tremor of arms", "postural tremor of arm" ] ], "xref": [ "UMLS:C1867138" ], "is_a": [ "HP:0002174", "HP:0200085" ], "is_obsolete": "", "replace_id": "" }, "HP:0007352": { "name": [ "cerebellar calcifications", "cerebellar calcification" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1851431" ], "is_a": [ "HP:0001317", "HP:0010766" ], "is_obsolete": "", "replace_id": "" }, "HP:0007354": { "name": [ "amyotrophic lateral sclerosis", "amyotrophic lateral sclerosis" ], "alt_id": [], "def": "", "synonym": [ [ "lou gehrig 's disease", "lou gehrig 's disease" ] ], "xref": [ "MSH:D000690", "SNOMEDCT_US:86044005", "UMLS:C0002736" ], "is_a": [ "HP:0007373" ], "is_obsolete": "", "replace_id": "" }, "HP:0007359": { "name": [ "focal - onset seizure", "focal - onset seizure" ], "alt_id": [ "HP:0002358", "HP:0040168" ], "def": "A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.", "synonym": [ [ "focal onset seizure", "focal onset seizure" ], [ "focal seizure", "focal seizure" ], [ "focal seizures", "focal seizure" ], [ "focal - onset seizures", "focal - onset seizure" ], [ "partial seizure", "partial seizure" ], [ "partial seizures", "partial seizure" ], [ "seizure affecting one half of brain", "seizure affect one half of brain" ] ], "xref": [ "MSH:D012640", "SNOMEDCT_US:29753000", "UMLS:C0751495" ], "is_a": [ "HP:0001250" ], "is_obsolete": "", "replace_id": "" }, "HP:0007360": { "name": [ "aplasia / hypoplasia of the cerebellum", "aplasia / hypoplasia of the cerebellum" ], "alt_id": [ "HP:0006857", "HP:0007368" ], "def": "", "synonym": [ [ "absent / small cerebellum", "absent / small cerebellum" ], [ "absent / underdeveloped cerebellum", "absent / underdevelop cerebellum" ], [ "atrophy / degeneration affecting the cerebellum", "atrophy / degeneration affect the cerebellum" ], [ "atrophy / hypoplasia of the cerebellum", "atrophy / hypoplasia of the cerebellum" ], [ "cerebellar hypoplasia / atrophy", "cerebellar hypoplasia / atrophy" ] ], "xref": [ "UMLS:C3279222" ], "is_a": [ "HP:0001317", "HP:0002977" ], "is_obsolete": "", "replace_id": "" }, "HP:0007361": { "name": [ "abnormal pons morphology", "abnormal pons morphology" ], "alt_id": [], "def": "A structural abnormality of the pons.", "synonym": [ [ "abnormality of the pons", "abnormality of the pons" ] ], "xref": [ "UMLS:C4024905" ], "is_a": [ "HP:0002363", "HP:0011283" ], "is_obsolete": "", "replace_id": "" }, "HP:0007362": { "name": [ "aplasia / hypoplasia of the brainstem", "aplasia / hypoplasia of the brainstem" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small brainstem", "absent / small brainstem" ], [ "absent / underdeveloped brainstem", "absent / underdevelop brainstem" ] ], "xref": [ "UMLS:C4024904" ], "is_a": [ "HP:0002363", "HP:0002977" ], "is_obsolete": "", "replace_id": "" }, "HP:0007363": { "name": [ "aplasia / hypoplasia of the pyramidal tract", "aplasia / hypoplasia of the pyramidal tract" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024903" ], "is_a": [ "HP:0002062", "HP:0002977" ], "is_obsolete": "", "replace_id": "" }, "HP:0007364": { "name": [ "aplasia / hypoplasia of the cerebrum", "aplasia / hypoplasia of the cerebrum" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small cerebrum", "absent / small cerebrum" ], [ "absent / underdeveloped cerebrum", "absent / underdevelop cerebrum" ] ], "xref": [ "UMLS:C4024902" ], "is_a": [ "HP:0002060", "HP:0002977" ], "is_obsolete": "", "replace_id": "" }, "HP:0007365": { "name": [ "aplasia / hypoplasia involving the corticospinal tracts", "aplasia / hypoplasia involve the corticospinal tract" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024901" ], "is_a": [ "HP:0002492", "HP:0002977" ], "is_obsolete": "", "replace_id": "" }, "HP:0007366": { "name": [ "atrophy / degeneration affecting the brainstem", "atrophy / degeneration affect the brainstem" ], "alt_id": [], "def": "", "synonym": [ [ "brainstem atrophy", "brainstem atrophy" ] ], "xref": [ "UMLS:C4024900" ], "is_a": [ "HP:0002363", "HP:0007367" ], "is_obsolete": "", "replace_id": "" }, "HP:0007367": { "name": [ "atrophy / degeneration affecting the central nervous system", "atrophy / degeneration affect the central nervous system" ], "alt_id": [], "def": "", "synonym": [ [ "atrophy / degeneration affecting the cns", "atrophy / degeneration affect the cns" ] ], "xref": [ "UMLS:C4024899" ], "is_a": [ "HP:0002011" ], "is_obsolete": "", "replace_id": "" }, "HP:0007369": { "name": [ "atrophy / degeneration affecting the cerebrum", "atrophy / degeneration affect the cerebrum" ], "alt_id": [], "def": "The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.", "synonym": [], "xref": [ "UMLS:C4024898" ], "is_a": [ "HP:0002060", "HP:0002977", "HP:0012444" ], "is_obsolete": "", "replace_id": "" }, "HP:0007370": { "name": [ "aplasia / hypoplasia of the corpus callosum", "aplasia / hypoplasia of the corpus callosum" ], "alt_id": [ "HP:0007003", "HP:0007060", "HP:0007061", "HP:0007137" ], "def": "Absence or underdevelopment of the corpus callosum.", "synonym": [ [ "absent / hypoplastic corpus callosum", "absent / hypoplastic corpus callosum" ], [ "agenesis / hypoplastic corpus callosum", "agenesis / hypoplastic corpus callosum" ], [ "complete or partial absence of the corpus callosum", "complete or partial absence of the corpus callosum" ], [ "hypoplasia or absence of the corpus callosum", "hypoplasia or absence of the corpus callosum" ], [ "hypoplastic or absent corpus callosum", "hypoplastic or absent corpus callosum" ] ], "xref": [ "UMLS:C1861866" ], "is_a": [ "HP:0007364", "HP:0033725" ], "is_obsolete": "", "replace_id": "" }, "HP:0007371": { "name": [ "corpus callosum atrophy", "corpus callosum atrophy" ], "alt_id": [ "HP:0005712" ], "def": "The presence of atrophy (wasting) of the corpus callosum.", "synonym": [ [ "atrophic corpus callosum", "atrophic corpus callosum" ], [ "atrophy of the corpus callosum", "atrophy of the corpus callosum" ], [ "atrophy / degeneration of the corpus callosum", "atrophy / degeneration of the corpus callosum" ] ], "xref": [ "SNOMEDCT_US:253142006", "UMLS:C0431370" ], "is_a": [ "HP:0007369", "HP:0012762", "HP:0033725" ], "is_obsolete": "", "replace_id": "" }, "HP:0007372": { "name": [ "atrophy / degeneration involving the corticospinal tracts", "atrophy / degeneration involve the corticospinal tract" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024897" ], "is_a": [ "HP:0002492", "HP:0007367" ], "is_obsolete": "", "replace_id": "" }, "HP:0007373": { "name": [ "motor neuron atrophy", "motor neuron atrophy" ], "alt_id": [], "def": "Wasting involving the motor neuron.", "synonym": [ [ "motor neuron degeneration", "motor neuron degeneration" ] ], "xref": [ "UMLS:C4024896" ], "is_a": [ "HP:0002450", "HP:0007367" ], "is_obsolete": "", "replace_id": "" }, "HP:0007374": { "name": [ "atrophy / degeneration involving the caudate nucleus", "atrophy / degeneration involve the caudate nucleus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024895" ], "is_a": [ "HP:0002339", "HP:0007369" ], "is_obsolete": "", "replace_id": "" }, "HP:0007375": { "name": [ "abnormality of the septum pellucidum", "abnormality of the septum pellucidum" ], "alt_id": [], "def": "An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.", "synonym": [], "xref": [ "UMLS:C4024894" ], "is_a": [ "HP:0002060" ], "is_obsolete": "", "replace_id": "" }, "HP:0007376": { "name": [ "abnormal choroid plexus morphology", "abnormal choroid plexus morphology" ], "alt_id": [], "def": "An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.", "synonym": [], "xref": [ "UMLS:C4024893" ], "is_a": [ "HP:0002118" ], "is_obsolete": "", "replace_id": "" }, "HP:0007377": { "name": [ "abnormality of somatosensory evoked potentials", "abnormality of somatosensory evoke potential" ], "alt_id": [], "def": "An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.", "synonym": [ [ "abnormality of sseps", "abnormality of sseps" ] ], "xref": [ "UMLS:C4021577" ], "is_a": [ "HP:0030177", "HP:0030178" ], "is_obsolete": "", "replace_id": "" }, "HP:0007378": { "name": [ "neoplasm of the gastrointestinal tract", "neoplasm of the gastrointestinal tract" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the gastrointestinal tract.", "synonym": [ [ "gastrointestinal tract neoplasia", "gastrointestinal tract neoplasia" ], [ "gastrointestinal tract neoplasm", "gastrointestinal tract neoplasm" ], [ "gastrointestinal tract tumor", "gastrointestinal tract tumor" ], [ "gastrointestinal tract tumour", "gastrointestinal tract tumour" ], [ "gi tract tumor", "gi tract tumor" ], [ "gi tract tumour", "gi tract tumour" ], [ "neoplasm of the gi tract", "neoplasm of the gi tract" ] ], "xref": [ "MSH:D005770", "NCIT:C3262", "SNOMEDCT_US:126768004", "UMLS:C0017185" ], "is_a": [ "HP:0011024", "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0007379": { "name": [ "neoplasm of the genitourinary tract", "neoplasm of the genitourinary tract" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the genitourinary system.", "synonym": [ [ "genitourinary tract neoplasia", "genitourinary tract neoplasia" ], [ "genitourinary tract neoplasm", "genitourinary tract neoplasm" ], [ "genitourinary tract tumors", "genitourinary tract tumor" ], [ "genitourinary tract tumours", "genitourinary tract tumour" ], [ "neoplasm of the gu tract", "neoplasm of the gu tract" ] ], "xref": [ "MSH:D014565", "NCIT:C3262", "UMLS:C0042065", "UMLS:C4020809" ], "is_a": [ "HP:0000119", "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0007380": { "name": [ "facial telangiectasia", "facial telangiectasia" ], "alt_id": [ "HP:0007520" ], "def": "Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.", "synonym": [ [ "facial telangiectatic vessels", "facial telangiectatic vessel" ], [ "telangiectasia , facial", "telangiectasia , facial" ] ], "xref": [ "UMLS:C0858684" ], "is_a": [ "HP:0100585" ], "is_obsolete": "", "replace_id": "" }, "HP:0007381": { "name": [ "congenital exfoliative erythroderma", "congenital exfoliative erythroderma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024892" ], "is_a": [ "HP:0001019" ], "is_obsolete": "", "replace_id": "" }, "HP:0007383": { "name": [ "congenital localized absence of skin", "congenital localize absence of skin" ], "alt_id": [ "HP:0007557" ], "def": "", "synonym": [ [ "congenital localised absence of skin", "congenital localise absence of skin" ], [ "congenital localised skin absence", "congenital localise skin absence" ], [ "congenital localized skin absence", "congenital localize skin absence" ] ], "xref": [ "UMLS:C2673597" ], "is_a": [ "HP:0008065" ], "is_obsolete": "", "replace_id": "" }, "HP:0007384": { "name": [ "aberrant melanosome maturation", "aberrant melanosome maturation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1969516" ], "is_a": [ "HP:0011125" ], "is_obsolete": "", "replace_id": "" }, "HP:0007385": { "name": [ "aplasia cutis congenita of scalp", "aplasia cutis congenita of scalp" ], "alt_id": [ "HP:0000994", "HP:0007568" ], "def": "A developmental defect resulting in the congenital absence of skin on the scalp.", "synonym": [ [ "defect of scalp", "defect of scalp" ], [ "focal absence of scalp tissue", "focal absence of scalp tissue" ], [ "scalp aplasia cutis congenita", "scalp aplasia cutis congenita" ], [ "scalp defect", "scalp defect" ], [ "solitary scalp defect", "solitary scalp defect" ] ], "xref": [ "UMLS:C1855698", "UMLS:C4048801", "UMLS:C4072857", "UMLS:C4072858" ], "is_a": [ "HP:0001057" ], "is_obsolete": "", "replace_id": "" }, "HP:0007387": { "name": [ "hypoplastic sweat glands", "hypoplastic sweat gland" ], "alt_id": [], "def": "Underdevelopment of the sweat glands.", "synonym": [ [ "underdeveloped sweat glands", "underdeveloped sweat gland" ] ], "xref": [ "UMLS:C1832455" ], "is_a": [ "HP:0011135" ], "is_obsolete": "", "replace_id": "" }, "HP:0007390": { "name": [ "hyperkeratosis with erythema", "hyperkeratosis with erythema" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024891" ], "is_a": [ "HP:0000962" ], "is_obsolete": "", "replace_id": "" }, "HP:0007392": { "name": [ "excessive wrinkled skin", "excessive wrinkle skin" ], "alt_id": [], "def": "", "synonym": [ [ "excessive wrinkled skin", "excessive wrinkle skin" ] ], "xref": [ "UMLS:C4024890" ], "is_a": [ "HP:0008067", "HP:0100678" ], "is_obsolete": "", "replace_id": "" }, "HP:0007394": { "name": [ "prominent superficial blood vessels", "prominent superficial blood vessel" ], "alt_id": [ "HP:0007577" ], "def": "", "synonym": [ [ "prominent superficial blood vessels", "prominent superficial blood vessel" ], [ "prominent superficial vasculature", "prominent superficial vasculature" ] ], "xref": [ "UMLS:C1848771" ], "is_a": [ "HP:0011276" ], "is_obsolete": "", "replace_id": "" }, "HP:0007395": { "name": [ "postnatal - onset ichthyosiform erythroderma", "postnatal - onset ichthyosiform erythroderma" ], "alt_id": [], "def": "A type of ichthyosiform erythroderma with postnatal onset.", "synonym": [ [ "postnatal - onset ichthyosis", "postnatal - onset ichthyosis" ] ], "xref": [ "UMLS:C4021576" ], "is_a": [ "HP:0008064" ], "is_obsolete": "", "replace_id": "" }, "HP:0007396": { "name": [ "early cutaneous photosensitivity", "early cutaneous photosensitivity" ], "alt_id": [], "def": "Photosensitivity of the skin occurring early in life.", "synonym": [ [ "sun sensitivity occurring early in life", "sun sensitivity occur early in life" ] ], "xref": [ "UMLS:C4024889" ], "is_a": [ "HP:0000992" ], "is_obsolete": "", "replace_id": "" }, "HP:0007397": { "name": [ "axillary apocrine gland hypoplasia", "axillary apocrine gland hypoplasia" ], "alt_id": [], "def": "Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.", "synonym": [], "xref": [ "UMLS:C1867003" ], "is_a": [ "HP:0011135" ], "is_obsolete": "", "replace_id": "" }, "HP:0007398": { "name": [ "asymmetric , linear skin defects", "asymmetric , linear skin defect" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024888" ], "is_a": [ "HP:0008065" ], "is_obsolete": "", "replace_id": "" }, "HP:0007400": { "name": [ "irregular hyperpigmentation", "irregular hyperpigmentation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1860236" ], "is_a": [ "HP:0000953" ], "is_obsolete": "", "replace_id": "" }, "HP:0007401": { "name": [ "macular atrophy", "macular atrophy" ], "alt_id": [], "def": "Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.", "synonym": [], "xref": [ "MSH:D057088", "SNOMEDCT_US:238828009", "UMLS:C1288283" ], "is_a": [ "HP:0000608", "HP:0001105" ], "is_obsolete": "", "replace_id": "" }, "HP:0007402": { "name": [ "areas of hypopigmentation and hyperpigmentation that do not follow blaschko lines", "area of hypopigmentation and hyperpigmentation that do not follow blaschko line" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024886" ], "is_a": [ "HP:0009123" ], "is_obsolete": "", "replace_id": "" }, "HP:0007403": { "name": [ "hypertrophy of skin of soles", "hypertrophy of skin of sol" ], "alt_id": [], "def": "", "synonym": [ [ "thick skin of soles", "thick skin of sol" ] ], "xref": [ "UMLS:C1867617" ], "is_a": [ "HP:0100872" ], "is_obsolete": "", "replace_id": "" }, "HP:0007404": { "name": [ "nonepidermolytic palmoplantar hyperkeratosis", "nonepidermolytic palmoplantar hyperkeratosis" ], "alt_id": [], "def": "Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis.", "synonym": [ [ "nonepidermolytic palmoplantar keratoderma", "nonepidermolytic palmoplantar keratoderma" ] ], "xref": [ "MSH:C563422", "UMLS:C1833030" ], "is_a": [ "HP:0000972" ], "is_obsolete": "", "replace_id": "" }, "HP:0007406": { "name": [ "hyperpigmentation of eyelids", "hyperpigmentation of eyelid" ], "alt_id": [], "def": "", "synonym": [ [ "brown eyelids", "brown eyelid" ], [ "dark eyelids", "dark eyelid" ], [ "pigmentation of eyelids", "pigmentation of eyelid" ] ], "xref": [ "MSH:C562400", "SNOMEDCT_US:41115008", "UMLS:C0155211", "UMLS:C0854438", "UMLS:C4280440" ], "is_a": [ "HP:0000492", "HP:0007400" ], "is_obsolete": "", "replace_id": "" }, "HP:0007407": { "name": [ "excessive skin wrinkling on dorsum of hands and fingers", "excessive skin wrinkle on dorsum of hand and finger" ], "alt_id": [], "def": "", "synonym": [ [ "excessive skin wrinkling on back of hands and fingers", "excessive skin wrinkle on back of hand and finger" ] ], "xref": [ "UMLS:C1837467" ], "is_a": [ "HP:0007392" ], "is_obsolete": "", "replace_id": "" }, "HP:0007408": { "name": [ "tegumentary leishmaniasis susceptibility", "tegumentary leishmaniasis susceptibility" ], "alt_id": [], "def": "Increased susceptibility to infection by the protozan parasite of the genus Leishmania.", "synonym": [], "xref": [ "UMLS:C2748501" ], "is_a": [ "HP:0005386" ], "is_obsolete": "", "replace_id": "" }, "HP:0007409": { "name": [ "obsolete absence of subcutaneous fat over entire body except buttocks , hips , and thighs", "obsolete absence of subcutaneous fat over entire body except buttock , hip , and thigh" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0003758" }, "HP:0007410": { "name": [ "palmoplantar hyperhidrosis", "palmoplantar hyperhidrosis" ], "alt_id": [ "HP:0007624" ], "def": "An abnormally increased perspiration on palms and soles.", "synonym": [ [ "excessive sweating of palms and soles", "excessive sweating of palm and sol" ], [ "hyperhidrosis of palms and soles", "hyperhidrosis of palm and sol" ] ], "xref": [ "MSH:C563185", "SNOMEDCT_US:403375001", "UMLS:C1274743" ], "is_a": [ "HP:0006089", "HP:0100872" ], "is_obsolete": "", "replace_id": "" }, "HP:0007411": { "name": [ "hypoplastic - absent sebaceous glands", "hypoplastic - absent sebaceous gland" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1844617" ], "is_a": [ "HP:0008065" ], "is_obsolete": "", "replace_id": "" }, "HP:0007412": { "name": [ "macular hyperpigmented dermopathy", "macular hyperpigmented dermopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024885" ], "is_a": [ "HP:0001034" ], "is_obsolete": "", "replace_id": "" }, "HP:0007413": { "name": [ "nevus flammeus of the forehead", "nevus flammeus of the forehead" ], "alt_id": [], "def": "Naevus flammeus localised in the skin of the forehead.", "synonym": [ [ "port - wine stain on forehead", "port - wine stain on forehead" ] ], "xref": [ "UMLS:C1848850" ], "is_a": [ "HP:0001052" ], "is_obsolete": "", "replace_id": "" }, "HP:0007414": { "name": [ "neonatal wrinkled skin of hands and feet", "neonatal wrinkle skin of hand and foot" ], "alt_id": [], "def": "", "synonym": [ [ "wrinkled skin of hands and feet in newborn", "wrinkled skin of hand and foot in newborn" ] ], "xref": [ "UMLS:C4024884" ], "is_a": [ "HP:0100678" ], "is_obsolete": "", "replace_id": "" }, "HP:0007417": { "name": [ "discoid lupus rash", "discoid lupus rash" ], "alt_id": [ "HP:0000981" ], "def": "Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.", "synonym": [ [ "discoid lupus erythematosus", "discoid lupus erythematosus" ] ], "xref": [ "MSH:D008179", "SNOMEDCT_US:200938002", "SNOMEDCT_US:238927000", "UMLS:C0024138" ], "is_a": [ "HP:0000988" ], "is_obsolete": "", "replace_id": "" }, "HP:0007418": { "name": [ "alopecia totalis", "alopecia totalis" ], "alt_id": [], "def": "Loss of all scalp hair.", "synonym": [ [ "total alopecia", "total alopecia" ] ], "xref": [ "SNOMEDCT_US:19754005", "UMLS:C0263504" ], "is_a": [ "HP:0001596" ], "is_obsolete": "", "replace_id": "" }, "HP:0007420": { "name": [ "spontaneous hematomas", "spontaneous hematoma" ], "alt_id": [], "def": "Spontaneous development of hematomas (hematoma) or bruises without significant trauma.", "synonym": [], "xref": [ "UMLS:C1697453" ], "is_a": [ "HP:0001933" ], "is_obsolete": "", "replace_id": "" }, "HP:0007421": { "name": [ "telangiectases of the cheeks", "telangiectases of the cheek" ], "alt_id": [], "def": "Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.", "synonym": [ [ "telangiectasia on the cheeks", "telangiectasia on the cheek" ] ], "xref": [ "UMLS:C3554587" ], "is_a": [ "HP:0007380" ], "is_obsolete": "", "replace_id": "" }, "HP:0007425": { "name": [ "hyperextensible skin of face", "hyperextensible skin of face" ], "alt_id": [], "def": "", "synonym": [ [ "hyperelastic face skin", "hyperelastic face skin" ], [ "stretchable face skin", "stretchable face skin" ] ], "xref": [ "UMLS:C4024883" ], "is_a": [ "HP:0007458" ], "is_obsolete": "", "replace_id": "" }, "HP:0007427": { "name": [ "reticulated skin pigmentation", "reticulate skin pigmentation" ], "alt_id": [], "def": "", "synonym": [ [ "reticular pigmentation pattern", "reticular pigmentation pattern" ], [ "reticulate skin pigmentation", "reticulate skin pigmentation" ] ], "xref": [ "UMLS:C3279575", "UMLS:C3279601" ], "is_a": [ "HP:0001000" ], "is_obsolete": "", "replace_id": "" }, "HP:0007428": { "name": [ "telangiectasia of the oral mucosa", "telangiectasia of the oral mucosa" ], "alt_id": [], "def": "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.", "synonym": [ [ "angioectasia of the oral mucosa", "angioectasia of the oral mucosa" ], [ "angioectasia of the oral mucous membrane", "angioectasia of the oral mucous membrane" ], [ "spider veins of the oral mucosa", "spider vein of the oral mucosa" ], [ "telangiectasia of the oral mucous membrane", "telangiectasia of the oral mucous membrane" ] ], "xref": [ "UMLS:C4024882" ], "is_a": [ "HP:0000228" ], "is_obsolete": "", "replace_id": "" }, "HP:0007429": { "name": [ "few cafe - au - lait spots", "few cafe - au - lait spot" ], "alt_id": [], "def": "The presence of two to five cafe-au-lait macules.", "synonym": [], "xref": [ "UMLS:C4024881" ], "is_a": [ "HP:0000957" ], "is_obsolete": "", "replace_id": "" }, "HP:0007430": { "name": [ "generalized edema", "generalize edema" ], "alt_id": [ "HP:0007575" ], "def": "Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.", "synonym": [ [ "generalised oedema", "generalise oedema" ], [ "generalised tissue oedema", "generalise tissue oedema" ], [ "generalized tissue edema", "generalize tissue edema" ] ], "xref": [ "SNOMEDCT_US:271808008", "UMLS:C1850534" ], "is_a": [ "HP:0000969" ], "is_obsolete": "", "replace_id": "" }, "HP:0007431": { "name": [ "congenital ichthyosiform erythroderma", "congenital ichthyosiform erythroderma" ], "alt_id": [ "HP:0007478", "HP:0007484" ], "def": "An ichthyosiform abnormality of the skin with congenital onset.", "synonym": [ [ "congenital ichthyosis", "congenital ichthyosis" ], [ "ichthyosis , congenital", "ichthyosis , congenital" ] ], "xref": [ "MSH:D016113", "SNOMEDCT_US:254156001", "SNOMEDCT_US:268282005", "UMLS:C0079583" ], "is_a": [ "HP:0008064" ], "is_obsolete": "", "replace_id": "" }, "HP:0007432": { "name": [ "intermittent generalized erythematous papular rash", "intermittent generalize erythematous papular rash" ], "alt_id": [], "def": "", "synonym": [ [ "intermittent generalised erythematous papular rash", "intermittent generalise erythematous papular rash" ] ], "xref": [ "UMLS:C2749995" ], "is_a": [ "HP:0200034" ], "is_obsolete": "", "replace_id": "" }, "HP:0007434": { "name": [ "plaque - like facial hemangioma", "plaque - like facial hemangioma" ], "alt_id": [], "def": "Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.", "synonym": [ [ "hemangioma , facial , plaque - like", "hemangioma , facial , plaque - like" ] ], "xref": [ "UMLS:C1847884" ], "is_a": [ "HP:0000329" ], "is_obsolete": "", "replace_id": "" }, "HP:0007435": { "name": [ "obsolete diffuse palmoplantar keratoderma", "obsolete diffuse palmoplantar keratoderma" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0007447" }, "HP:0007436": { "name": [ "hair - nail ectodermal dysplasia", "hair - nail ectodermal dysplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024880" ], "is_a": [ "HP:0000968" ], "is_obsolete": "", "replace_id": "" }, "HP:0007437": { "name": [ "multiple cutaneous leiomyomas", "multiple cutaneous leiomyoma" ], "alt_id": [], "def": "The presence of multiple leiomyomas of the skin.", "synonym": [], "xref": [ "MSH:C535516", "NCIT:C3157", "UMLS:C1708350" ], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0007438": { "name": [ "mottled pigmentation of the trunk and proximal extremities", "mottle pigmentation of the trunk and proximal extremity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1851551" ], "is_a": [ "HP:0001070" ], "is_obsolete": "", "replace_id": "" }, "HP:0007439": { "name": [ "generalized keratosis follicularis", "generalize keratosis follicularis" ], "alt_id": [], "def": "", "synonym": [ [ "generalised keratosis follicularis", "generalise keratosis follicularis" ] ], "xref": [ "UMLS:C4024879" ], "is_a": [ "HP:0011368" ], "is_obsolete": "", "replace_id": "" }, "HP:0007440": { "name": [ "generalized hyperpigmentation", "generalize hyperpigmentation" ], "alt_id": [ "HP:0007540" ], "def": "", "synonym": [ [ "generalised hyperpigmentation", "generalise hyperpigmentation" ] ], "xref": [ "UMLS:C4024878" ], "is_a": [ "HP:0000953" ], "is_obsolete": "", "replace_id": "" }, "HP:0007441": { "name": [ "hyperpigmented / hypopigmented macules", "hyperpigmented / hypopigmented macule" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024877" ], "is_a": [ "HP:0009123", "HP:0012733" ], "is_obsolete": "", "replace_id": "" }, "HP:0007443": { "name": [ "partial albinism", "partial albinism" ], "alt_id": [ "HP:0001044" ], "def": "Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.", "synonym": [ [ "congenital partial albinism on face , trunk , or limbs", "congenital partial albinism on face , trunk , or limb" ], [ "congenital partial leucoderma", "congenital partial leucoderma" ], [ "partial absent skin pigmentation", "partial absent skin pigmentation" ] ], "xref": [ "MSH:D016116", "SNOMEDCT_US:6479008", "SNOMEDCT_US:718122005", "UMLS:C0080024" ], "is_a": [ "HP:0001010" ], "is_obsolete": "", "replace_id": "" }, "HP:0007446": { "name": [ "palmoplantar blistering", "palmoplantar blistering" ], "alt_id": [], "def": "A type of blistering that affects the skin of the palms of the hands and the soles of the feet.", "synonym": [], "xref": [ "UMLS:C4024876" ], "is_a": [ "HP:0033800", "HP:0040211", "HP:0100872" ], "is_obsolete": "", "replace_id": "" }, "HP:0007447": { "name": [ "diffuse palmoplantar hyperkeratosis", "diffuse palmoplantar hyperkeratosis" ], "alt_id": [ "HP:0007435" ], "def": "Diffuse abnormal thickening of the skin on the palms and soles.", "synonym": [ [ "diffuse palmoplantar keratoderma", "diffuse palmoplantar keratoderma" ], [ "hyperkeratosis , diffuse palmoplantar", "hyperkeratosis , diffuse palmoplantar" ] ], "xref": [ "MSH:D015776", "UMLS:C4021575" ], "is_a": [ "HP:0000972" ], "is_obsolete": "", "replace_id": "" }, "HP:0007448": { "name": [ "hyperkeratosis over edematous areas", "hyperkeratosis over edematous area" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1835253" ], "is_a": [ "HP:0000962", "HP:0000969" ], "is_obsolete": "", "replace_id": "" }, "HP:0007449": { "name": [ "confetti - like hypopigmented macules", "confetti - like hypopigmented macule" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1851705" ], "is_a": [ "HP:0020073" ], "is_obsolete": "", "replace_id": "" }, "HP:0007450": { "name": [ "increased groin pigmentation with raindrop depigmentation", "increase groin pigmentation with raindrop depigmentation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024875" ], "is_a": [ "HP:0007400", "HP:0009123" ], "is_obsolete": "", "replace_id": "" }, "HP:0007451": { "name": [ "ipsilateral lack of facial sweating", "ipsilateral lack of facial sweating" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024874" ], "is_a": [ "HP:0025276" ], "is_obsolete": "", "replace_id": "" }, "HP:0007452": { "name": [ "midface capillary hemangioma", "midface capillary hemangioma" ], "alt_id": [ "HP:0007611" ], "def": "", "synonym": [ [ "midfacial capillary hemangioma", "midfacial capillary hemangioma" ] ], "xref": [ "UMLS:C1849377" ], "is_a": [ "HP:0000996" ], "is_obsolete": "", "replace_id": "" }, "HP:0007453": { "name": [ "flexural lichenification", "flexural lichenification" ], "alt_id": [], "def": "Lichenification affecting primarily flexural areas of the skin.", "synonym": [], "xref": [ "UMLS:C4024873" ], "is_a": [ "HP:0100725" ], "is_obsolete": "", "replace_id": "" }, "HP:0007455": { "name": [ "adermatoglyphia", "adermatoglyphia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C565010", "UMLS:C1852150" ], "is_a": [ "HP:0007477" ], "is_obsolete": "", "replace_id": "" }, "HP:0007456": { "name": [ "progressive reticulate hyperpigmentation", "progressive reticulate hyperpigmentation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024872" ], "is_a": [ "HP:0007400" ], "is_obsolete": "", "replace_id": "" }, "HP:0007457": { "name": [ "prominent veins on trunk", "prominent vein on trunk" ], "alt_id": [], "def": "Prominent thoracic and abdominal veins.", "synonym": [], "xref": [ "UMLS:C4024871" ], "is_a": [ "HP:0001015" ], "is_obsolete": "", "replace_id": "" }, "HP:0007458": { "name": [ "focal hyperextensible skin", "focal hyperextensible skin" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024870" ], "is_a": [ "HP:0000974" ], "is_obsolete": "", "replace_id": "" }, "HP:0007459": { "name": [ "generalized anhidrosis", "generalize anhidrosis" ], "alt_id": [], "def": "", "synonym": [ [ "generalised anhidrosis", "generalise anhidrosis" ], [ "generalised anhydrosis", "generalise anhydrosis" ], [ "generalised inability to sweat", "generalise inability to sweat" ], [ "generalized anhydrosis", "generalize anhydrosis" ], [ "generalized inability to sweat", "generalize inability to sweat" ] ], "xref": [ "UMLS:C4024869" ], "is_a": [ "HP:0025276" ], "is_obsolete": "", "replace_id": "" }, "HP:0007460": { "name": [ "autoamputation of digits", "autoamputation of digit" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1852289" ], "is_a": [ "HP:0001155", "HP:0001218" ], "is_obsolete": "", "replace_id": "" }, "HP:0007461": { "name": [ "hemangiomatosis", "hemangiomatosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:254785001", "SNOMEDCT_US:47669001", "UMLS:C1384590" ], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0007462": { "name": [ "bitot spots of the conjunctiva", "bitot spot of the conjunctiva" ], "alt_id": [], "def": "Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot.", "synonym": [ [ "bitot 's spots", "bitot 's spot" ] ], "xref": [ "SNOMEDCT_US:246871006", "UMLS:C0423178", "UMLS:C4024868" ], "is_a": [ "HP:0000502" ], "is_obsolete": "", "replace_id": "" }, "HP:0007464": { "name": [ "sparse facial hair", "sparse facial hair" ], "alt_id": [], "def": "Reduced number or density of facial hair.", "synonym": [ [ "sparse facial hair", "sparse facial hair" ] ], "xref": [ "UMLS:C2017869" ], "is_a": [ "HP:0008070" ], "is_obsolete": "", "replace_id": "" }, "HP:0007465": { "name": [ "honeycomb palmoplantar hyperkeratosis", "honeycomb palmoplantar hyperkeratosis" ], "alt_id": [], "def": "Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.", "synonym": [], "xref": [ "UMLS:C1866032" ], "is_a": [ "HP:0000972" ], "is_obsolete": "", "replace_id": "" }, "HP:0007466": { "name": [ "midfrontal capillary hemangioma", "midfrontal capillary hemangioma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1859339" ], "is_a": [ "HP:0000996" ], "is_obsolete": "", "replace_id": "" }, "HP:0007468": { "name": [ "perifollicular hyperkeratosis", "perifollicular hyperkeratosis" ], "alt_id": [], "def": "Increased amount of keratin (visible as white scales) surrounding hair follicles.", "synonym": [], "xref": [ "UMLS:C4024867" ], "is_a": [ "HP:0000962", "HP:0031285" ], "is_obsolete": "", "replace_id": "" }, "HP:0007469": { "name": [ "palmoplantar cutis gyrata", "palmoplantar cutis gyrata" ], "alt_id": [], "def": "Cutis gyrata of palms and soles.", "synonym": [ [ "cutis gyrata of palms and soles", "cutis gyrata of palm and sol" ] ], "xref": [ "UMLS:C1851797" ], "is_a": [ "HP:0007477", "HP:0040211", "HP:0100872" ], "is_obsolete": "", "replace_id": "" }, "HP:0007470": { "name": [ "periarticular subcutaneous nodules", "periarticular subcutaneous nodule" ], "alt_id": [], "def": "Subcutaneous nodules that are located in the vicinity of joints.", "synonym": [], "xref": [ "UMLS:C3806306" ], "is_a": [ "HP:0001482" ], "is_obsolete": "", "replace_id": "" }, "HP:0007471": { "name": [ "axillary and groin hyperpigmentation and hypopigmentation", "axillary and groin hyperpigmentation and hypopigmentation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024866" ], "is_a": [ "HP:0009123" ], "is_obsolete": "", "replace_id": "" }, "HP:0007473": { "name": [ "crusting erythematous dermatitis", "crust erythematous dermatitis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1868496" ], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0007475": { "name": [ "congenital bullous ichthyosiform erythroderma", "congenital bullous ichthyosiform erythroderma" ], "alt_id": [], "def": "An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet.", "synonym": [ [ "bullous congenital ichthyosiform erythroderma", "bullous congenital ichthyosiform erythroderma" ], [ "epidermolytic hyperkeratosis", "epidermolytic hyperkeratosis" ] ], "xref": [ "MSH:D017488", "SNOMEDCT_US:239071005", "SNOMEDCT_US:254167000", "UMLS:C0079153" ], "is_a": [ "HP:0007431" ], "is_obsolete": "", "replace_id": "" }, "HP:0007476": { "name": [ "anhidrotic ectodermal dysplasia", "anhidrotic ectodermal dysplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D004476", "SNOMEDCT_US:7731005", "UMLS:C1706004" ], "is_a": [ "HP:0000968" ], "is_obsolete": "", "replace_id": "" }, "HP:0007477": { "name": [ "abnormal dermatoglyphics", "abnormal dermatoglyphic" ], "alt_id": [ "HP:0007422" ], "def": "An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.", "synonym": [ [ "abnormal fingerprints", "abnormal fingerprint" ], [ "dermatoglyphic abnormalities", "dermatoglyphic abnormality" ] ], "xref": [ "SNOMEDCT_US:83145004", "UMLS:C0432333" ], "is_a": [ "HP:0011356" ], "is_obsolete": "", "replace_id": "" }, "HP:0007479": { "name": [ "congenital nonbullous ichthyosiform erythroderma", "congenital nonbullous ichthyosiform erythroderma" ], "alt_id": [ "HP:0001021", "HP:0007388", "HP:0007512", "HP:0007619", "HP:0007625" ], "def": "The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.", "synonym": [ [ "collodion baby", "collodion baby" ], [ "congenital lamellar ichthyosis", "congenital lamellar ichthyosis" ], [ "congenital non - bullous ichthyosis", "congenital non - bullous ichthyosis" ], [ "ichthyosis lammellaris", "ichthyosis lammellaris" ], [ "ichthyosis , congenital , nonblistering", "ichthyosis , congenital , nonblistering" ], [ "nonbullous congenital ichthyosiform erythroderma", "nonbullous congenital ichthyosiform erythroderma" ], [ "nonbullous congenital ichthyosis", "nonbullous congenital ichthyosis" ] ], "xref": [ "MSH:D017490", "SNOMEDCT_US:205550003", "SNOMEDCT_US:267372009", "SNOMEDCT_US:268245001", "UMLS:C0079154" ], "is_a": [ "HP:0007431" ], "is_obsolete": "", "replace_id": "" }, "HP:0007480": { "name": [ "decreased sweating due to autonomic dysfunction", "decrease sweat due to autonomic dysfunction" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1868527" ], "is_a": [ "HP:0000966" ], "is_obsolete": "", "replace_id": "" }, "HP:0007481": { "name": [ "hyperpigmented nevi", "hyperpigmented nevus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C0746889" ], "is_a": [ "HP:0000995" ], "is_obsolete": "", "replace_id": "" }, "HP:0007482": { "name": [ "generalized papillary lesions", "generalize papillary lesion" ], "alt_id": [], "def": "", "synonym": [ [ "generalised papillary lesions", "generalise papillary lesion" ] ], "xref": [ "UMLS:C4024865" ], "is_a": [ "HP:0011354" ], "is_obsolete": "", "replace_id": "" }, "HP:0007483": { "name": [ "depigmentation / hyperpigmentation of skin", "depigmentation / hyperpigmentation of skin" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024864" ], "is_a": [ "HP:0001000" ], "is_obsolete": "", "replace_id": "" }, "HP:0007485": { "name": [ "absence of subcutaneous fat", "absence of subcutaneous fat" ], "alt_id": [ "HP:0007519" ], "def": "Lack of subcutaneous adipose tissue.", "synonym": [ [ "absent fat below the skin", "absent fat below the skin" ], [ "general absence of subcutaneous fat", "general absence of subcutaneous fat" ], [ "lack of fatty tissue below the skin", "lack of fatty tissue below the skin" ] ], "xref": [ "UMLS:C0241267", "UMLS:C4024855" ], "is_a": [ "HP:0008887" ], "is_obsolete": "", "replace_id": "" }, "HP:0007486": { "name": [ "cavernous hemangioma of the face", "cavernous hemangioma of the face" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "NCIT:C3086", "UMLS:C1332863" ], "is_a": [ "HP:0001048" ], "is_obsolete": "", "replace_id": "" }, "HP:0007488": { "name": [ "diffuse skin atrophy", "diffuse skin atrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024863" ], "is_a": [ "HP:0004334" ], "is_obsolete": "", "replace_id": "" }, "HP:0007489": { "name": [ "diffuse telangiectasia", "diffuse telangiectasia" ], "alt_id": [ "HP:0007405" ], "def": "Telangiectases (small dilated blood vessels) with a diffuse localization.", "synonym": [ [ "diffuse telangiectases", "diffuse telangiectases" ], [ "telangiectases , random body distribution", "telangiectases , random body distribution" ] ], "xref": [ "SNOMEDCT_US:125279001", "UMLS:C1265776" ], "is_a": [ "HP:0001009" ], "is_obsolete": "", "replace_id": "" }, "HP:0007490": { "name": [ "linear arrays of macular hyperkeratoses in flexural areas", "linear array of macular hyperkeratoses in flexural area" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1866031" ], "is_a": [ "HP:0000962" ], "is_obsolete": "", "replace_id": "" }, "HP:0007494": { "name": [ "discrete 2 to 5 - mm hyper - and hypopigmented macules", "discrete 2 to 5 - mm hyper - and hypopigmented macule" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1851552" ], "is_a": [ "HP:0007441" ], "is_obsolete": "", "replace_id": "" }, "HP:0007495": { "name": [ "prematurely aged appearance", "prematurely age appearance" ], "alt_id": [ "HP:0001599" ], "def": "", "synonym": [ [ "precociously senile appearance", "precociously senile appearance" ], [ "prematurely aged appearance", "prematurely age appearance" ] ], "xref": [ "UMLS:C1857656" ], "is_a": [ "HP:0011354" ], "is_obsolete": "", "replace_id": "" }, "HP:0007497": { "name": [ "focal friction - related palmoplantar hyperkeratosis", "focal friction - related palmoplantar hyperkeratosis" ], "alt_id": [], "def": "Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.", "synonym": [ [ "hyperkeratosis , palmoplantar , focal friction - related", "hyperkeratosis , palmoplantar , focal friction - related" ] ], "xref": [ "UMLS:C1835654" ], "is_a": [ "HP:0000972" ], "is_obsolete": "", "replace_id": "" }, "HP:0007499": { "name": [ "recurrent staphylococcal infections", "recurrent staphylococcal infection" ], "alt_id": [], "def": "Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.", "synonym": [ [ "recurrent staphylococcal infections", "recurrent staphylococcal infection" ] ], "xref": [ "UMLS:C4024862" ], "is_a": [ "HP:0002718" ], "is_obsolete": "", "replace_id": "" }, "HP:0007500": { "name": [ "decreased number of sweat glands", "decreased number of sweat gland" ], "alt_id": [ "HP:0007555", "HP:0007594" ], "def": "The presence of fewer than normal sweat glands.", "synonym": [ [ "decreased sweat glands", "decrease sweat gland" ], [ "decreased sweat pores", "decrease sweat pore" ] ], "xref": [ "UMLS:C4021574" ], "is_a": [ "HP:0000971" ], "is_obsolete": "", "replace_id": "" }, "HP:0007501": { "name": [ "streaks of hyperkeratosis along each finger onto the palm", "streak of hyperkeratosis along each finger onto the palm" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024861" ], "is_a": [ "HP:0000962" ], "is_obsolete": "", "replace_id": "" }, "HP:0007502": { "name": [ "follicular hyperkeratosis", "follicular hyperkeratosis" ], "alt_id": [ "HP:0007600" ], "def": "A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.", "synonym": [ [ "hyperkeratosis follicularis", "hyperkeratosis follicularis" ] ], "xref": [ "SNOMEDCT_US:238629004", "SNOMEDCT_US:402341008", "SNOMEDCT_US:81845009", "UMLS:C0334013" ], "is_a": [ "HP:0000962" ], "is_obsolete": "", "replace_id": "" }, "HP:0007503": { "name": [ "generalized ichthyosis", "generalize ichthyosis" ], "alt_id": [], "def": "", "synonym": [ [ "generalised ichthyosis", "generalise ichthyosis" ] ], "xref": [ "UMLS:C3552528" ], "is_a": [ "HP:0008064" ], "is_obsolete": "", "replace_id": "" }, "HP:0007504": { "name": [ "diffuse slow skin atrophy", "diffuse slow skin atrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024860" ], "is_a": [ "HP:0007488" ], "is_obsolete": "", "replace_id": "" }, "HP:0007505": { "name": [ "progressive hyperpigmentation", "progressive hyperpigmentation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024859" ], "is_a": [ "HP:0000953" ], "is_obsolete": "", "replace_id": "" }, "HP:0007506": { "name": [ "congenital absence of skin of limbs", "congenital absence of skin of limb" ], "alt_id": [], "def": "", "synonym": [ [ "missing skin on limbs since birth", "miss skin on limb since birth" ] ], "xref": [ "UMLS:C4024858" ], "is_a": [ "HP:0007383" ], "is_obsolete": "", "replace_id": "" }, "HP:0007508": { "name": [ "punctate palmar hyperkeratosis", "punctate palmar hyperkeratosis" ], "alt_id": [], "def": "Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands.", "synonym": [], "xref": [ "UMLS:C4024857" ], "is_a": [ "HP:0010765" ], "is_obsolete": "", "replace_id": "" }, "HP:0007509": { "name": [ "patchy hypo - and hyperpigmentation", "patchy hypo - and hyperpigmentation" ], "alt_id": [ "HP:0007487" ], "def": "", "synonym": [ [ "patchy hypo - and hyper - pigmentation", "patchy hypo - and hyper - pigmentation" ] ], "xref": [ "UMLS:C4021573" ], "is_a": [ "HP:0009123" ], "is_obsolete": "", "replace_id": "" }, "HP:0007510": { "name": [ "focal dermal aplasia / hypoplasia", "focal dermal aplasia / hypoplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1834069" ], "is_a": [ "HP:0008065" ], "is_obsolete": "", "replace_id": "" }, "HP:0007511": { "name": [ "mottled pigmentation of photoexposed areas", "mottle pigmentation of photoexposed area" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3151964" ], "is_a": [ "HP:0001070" ], "is_obsolete": "", "replace_id": "" }, "HP:0007513": { "name": [ "generalized hypopigmentation", "generalize hypopigmentation" ], "alt_id": [ "HP:0000984", "HP:0007419" ], "def": "", "synonym": [ [ "fair skin", "fair skin" ], [ "generalised hypopigmentation", "generalise hypopigmentation" ], [ "pale pigmentation", "pale pigmentation" ] ], "xref": [ "UMLS:C1849923" ], "is_a": [ "HP:0001010" ], "is_obsolete": "", "replace_id": "" }, "HP:0007514": { "name": [ "edema of the dorsum of hands", "edema of the dorsum of hand" ], "alt_id": [ "HP:0007528" ], "def": "An abnormal accumulation of fluid beneath the skin on the back of the hands.", "synonym": [ [ "edema of dorsum of hands", "edema of dorsum of hand" ], [ "oedema of dorsum of hands", "oedema of dorsum of hand" ], [ "oedema of the dorsum of hands", "oedema of the dorsum of hand" ] ], "xref": [ "MEDDRA:10058204 \"Oedema hands\"", "SNOMEDCT_US:443710002", "UMLS:C2732374", "UMLS:C2751873" ], "is_a": [ "HP:0000969" ], "is_obsolete": "", "replace_id": "" }, "HP:0007515": { "name": [ "hypoplastic pilosebaceous units", "hypoplastic pilosebaceous unit" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1832454" ], "is_a": [ "HP:0008065" ], "is_obsolete": "", "replace_id": "" }, "HP:0007516": { "name": [ "redundant skin on fingers", "redundant skin on finger" ], "alt_id": [], "def": "Loose and sagging skin of the fingers.", "synonym": [ [ "extra skin on fingers", "extra skin on finger" ] ], "xref": [ "UMLS:C4024856" ], "is_a": [ "HP:0001582" ], "is_obsolete": "", "replace_id": "" }, "HP:0007517": { "name": [ "palmoplantar cutis laxa", "palmoplantar cutis laxa" ], "alt_id": [ "HP:0001016" ], "def": "Loose, wrinkled skin of hands and feet.", "synonym": [ [ "excessive wrinkled skin of palms and soles", "excessive wrinkle skin of palm and sol" ], [ "furrowed palms and soles", "furrow palm and sol" ], [ "increased wrinkles of palms and soles", "increased wrinkle of palm and sol" ], [ "wrinkled palms and soles", "wrinkle palm and sol" ], [ "wrinkled skin of hands and feet", "wrinkled skin of hand and foot" ] ], "xref": [ "UMLS:C1856714" ], "is_a": [ "HP:0000973", "HP:0007605", "HP:0100872" ], "is_obsolete": "", "replace_id": "" }, "HP:0007519": { "name": [ "obsolete lack of subcutaneous fatty tissue", "obsolete lack of subcutaneous fatty tissue" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0007485" }, "HP:0007521": { "name": [ "irregular hyperpigmentation of back", "irregular hyperpigmentation of back" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024854" ], "is_a": [ "HP:0007400" ], "is_obsolete": "", "replace_id": "" }, "HP:0007522": { "name": [ "increased number of skin folds", "increased number of skin fold" ], "alt_id": [], "def": "", "synonym": [ [ "increased number of skin folds", "increased number of skin fold" ] ], "xref": [ "UMLS:C4024853" ], "is_a": [ "HP:0008067" ], "is_obsolete": "", "replace_id": "" }, "HP:0007524": { "name": [ "atypical neurofibromatosis", "atypical neurofibromatosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C537392", "UMLS:C0220695" ], "is_a": [ "HP:0001067" ], "is_obsolete": "", "replace_id": "" }, "HP:0007525": { "name": [ "yellow subcutaneous tissue covered by thin , scaly skin", "yellow subcutaneous tissue cover by thin , scaly skin" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850533" ], "is_a": [ "HP:0001001" ], "is_obsolete": "", "replace_id": "" }, "HP:0007526": { "name": [ "hypopigmented skin patches on arms", "hypopigmented skin patch on arm" ], "alt_id": [], "def": "", "synonym": [ [ "hypopigmented skin patches on arms", "hypopigmented skin patch on arm" ], [ "patchy loss of skin color on arms", "patchy loss of skin color on arm" ], [ "patchy loss of skin colour on arms", "patchy loss of skin colour on arm" ] ], "xref": [ "UMLS:C4024852" ], "is_a": [ "HP:0001053" ], "is_obsolete": "", "replace_id": "" }, "HP:0007529": { "name": [ "hidrotic ectodermal dysplasia", "hidrotic ectodermal dysplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D004476", "SNOMEDCT_US:54209007", "UMLS:C0162361" ], "is_a": [ "HP:0000968" ], "is_obsolete": "", "replace_id": "" }, "HP:0007530": { "name": [ "punctate palmoplantar hyperkeratosis", "punctate palmoplantar hyperkeratosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024851" ], "is_a": [ "HP:0000972" ], "is_obsolete": "", "replace_id": "" }, "HP:0007534": { "name": [ "congenital posterior occipital alopecia", "congenital posterior occipital alopecia" ], "alt_id": [], "def": "Loss of hair in the occipital region of the scalp with congenital onset.", "synonym": [], "xref": [ "UMLS:C4024850" ], "is_a": [ "HP:0011361" ], "is_obsolete": "", "replace_id": "" }, "HP:0007535": { "name": [ "hypopigmented streaks", "hypopigmented streak" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1866244" ], "is_a": [ "HP:0001010" ], "is_obsolete": "", "replace_id": "" }, "HP:0007536": { "name": [ "aplasia cutis congenita of midline scalp vertex", "aplasia cutis congenita of midline scalp vertex" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024849" ], "is_a": [ "HP:0004471" ], "is_obsolete": "", "replace_id": "" }, "HP:0007537": { "name": [ "severe photosensitivity", "severe photosensitivity" ], "alt_id": [], "def": "A severe degree of photosensitivity of the skin.", "synonym": [ [ "severe sun sensitivity", "severe sun sensitivity" ] ], "xref": [ "UMLS:C1849186" ], "is_a": [ "HP:0000992" ], "is_obsolete": "", "replace_id": "" }, "HP:0007541": { "name": [ "frontal cutaneous lipoma", "frontal cutaneous lipoma" ], "alt_id": [], "def": "Presence of a cutaneous lipoma on the forehead.", "synonym": [], "xref": [ "NCIT:C3192", "UMLS:C1850970" ], "is_a": [ "HP:0008069", "HP:0012032" ], "is_obsolete": "", "replace_id": "" }, "HP:0007542": { "name": [ "absent pigmentation of the ventral chest", "absent pigmentation of the ventral chest" ], "alt_id": [], "def": "Lack of skin pigmentation (coloring) of the anterior chest.", "synonym": [], "xref": [ "UMLS:C4024848" ], "is_a": [ "HP:0040007" ], "is_obsolete": "", "replace_id": "" }, "HP:0007543": { "name": [ "epidermal hyperkeratosis", "epidermal hyperkeratosis" ], "alt_id": [], "def": "", "synonym": [ [ "increased thickness of skin epidermis", "increased thickness of skin epidermis" ] ], "xref": [ "UMLS:C1848773" ], "is_a": [ "HP:0000962" ], "is_obsolete": "", "replace_id": "" }, "HP:0007544": { "name": [ "piebaldism", "piebaldism" ], "alt_id": [], "def": "Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution.", "synonym": [], "xref": [ "MSH:D016116", "SNOMEDCT_US:6479008", "SNOMEDCT_US:718122005", "UMLS:C0080024" ], "is_a": [ "HP:0001010" ], "is_obsolete": "", "replace_id": "" }, "HP:0007545": { "name": [ "congenital palmoplantar hyperkeratosis", "congenital palmoplantar hyperkeratosis" ], "alt_id": [ "HP:0007597" ], "def": "Abnormal thickening of the skin on the palms and soles that is present at birth.", "synonym": [ [ "congenital palmoplantar keratoderma", "congenital palmoplantar keratoderma" ], [ "congenital palmoplantar keratodermia", "congenital palmoplantar keratodermia" ], [ "congenital palmoplantar keratosis", "congenital palmoplantar keratosis" ] ], "xref": [ "UMLS:C1855633" ], "is_a": [ "HP:0000972" ], "is_obsolete": "", "replace_id": "" }, "HP:0007546": { "name": [ "linear hyperpigmentation", "linear hyperpigmentation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3278658" ], "is_a": [ "HP:0007400" ], "is_obsolete": "", "replace_id": "" }, "HP:0007548": { "name": [ "palmoplantar keratosis with erythema and scale", "palmoplantar keratosis with erythema and scale" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1843294" ], "is_a": [ "HP:0000972" ], "is_obsolete": "", "replace_id": "" }, "HP:0007549": { "name": [ "desquamation of skin soon after birth", "desquamation of skin soon after birth" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1842714" ], "is_a": [ "HP:0011354" ], "is_obsolete": "", "replace_id": "" }, "HP:0007550": { "name": [ "hypohidrosis or hyperhidrosis", "hypohidrosis or hyperhidrosis" ], "alt_id": [], "def": "", "synonym": [ [ "lack of sweating or excessive sweating", "lack of sweating or excessive sweating" ] ], "xref": [ "UMLS:C4021831" ], "is_a": [ "HP:0025276" ], "is_obsolete": "", "replace_id": "" }, "HP:0007552": { "name": [ "abnormal subcutaneous fat tissue distribution", "abnormal subcutaneous fat tissue distribution" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal fat tissue distribution below the skin", "abnormal fat tissue distribution below the skin" ] ], "xref": [ "UMLS:C1859347" ], "is_a": [ "HP:0001001" ], "is_obsolete": "", "replace_id": "" }, "HP:0007553": { "name": [ "congenital symmetrical palmoplantar keratosis", "congenital symmetrical palmoplantar keratosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1855459" ], "is_a": [ "HP:0000972" ], "is_obsolete": "", "replace_id": "" }, "HP:0007554": { "name": [ "confetti hypopigmentation pattern of lower leg skin", "confetti hypopigmentation pattern of low leg skin" ], "alt_id": [], "def": "", "synonym": [ [ "confetti hypopigmentation pattern of lower leg skin", "confetti hypopigmentation pattern of low leg skin" ] ], "xref": [ "UMLS:C4024847" ], "is_a": [ "HP:0001010" ], "is_obsolete": "", "replace_id": "" }, "HP:0007556": { "name": [ "plantar hyperkeratosis", "plantar hyperkeratosis" ], "alt_id": [ "HP:0007382", "HP:0007445" ], "def": "Hyperkeratosis affecting the sole of the foot.", "synonym": [ [ "plantar hyperkeratoses", "plantar hyperkeratoses" ] ], "xref": [ "UMLS:C1856954" ], "is_a": [ "HP:0000962", "HP:0100872" ], "is_obsolete": "", "replace_id": "" }, "HP:0007559": { "name": [ "localized epidermolytic hyperkeratosis", "localize epidermolytic hyperkeratosis" ], "alt_id": [], "def": "", "synonym": [ [ "localised epidermolytic hyperkeratosis", "localise epidermolytic hyperkeratosis" ] ], "xref": [ "MSH:D053546", "UMLS:C1721006" ], "is_a": [ "HP:0008064" ], "is_obsolete": "", "replace_id": "" }, "HP:0007560": { "name": [ "unusual dermatoglyphics", "unusual dermatoglyphic" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024846" ], "is_a": [ "HP:0005882" ], "is_obsolete": "", "replace_id": "" }, "HP:0007561": { "name": [ "telangiectases in sun - exposed and nonexposed skin", "telangiectases in sun - expose and nonexposed skin" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1868184" ], "is_a": [ "HP:0100585" ], "is_obsolete": "", "replace_id": "" }, "HP:0007565": { "name": [ "multiple cafe - au - lait spots", "multiple cafe - au - lait spot" ], "alt_id": [ "HP:0007416" ], "def": "The presence of six or more cafe-au-lait spots.", "synonym": [ [ "multiple birthmarks", "multiple birthmark" ], [ "multiple flat light - brown marks on skin", "multiple flat light - brown mark on skin" ] ], "xref": [ "MSH:C537421", "UMLS:C1861975" ], "is_a": [ "HP:0000957" ], "is_obsolete": "", "replace_id": "" }, "HP:0007566": { "name": [ "index finger dermatoglyphic radial loop", "index finger dermatoglyphic radial loop" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024845" ], "is_a": [ "HP:0005882" ], "is_obsolete": "", "replace_id": "" }, "HP:0007569": { "name": [ "generalized seborrheic dermatitis", "generalize seborrheic dermatitis" ], "alt_id": [], "def": "Seborrheic dermatitis that is not localized to any one particular region.", "synonym": [ [ "generalised seborrheic dermatitis", "generalise seborrheic dermatitis" ], [ "generalised seborrheic eczema", "generalise seborrheic eczema" ], [ "generalized seborrheic eczema", "generalize seborrheic eczema" ] ], "xref": [ "UMLS:C4024844" ], "is_a": [ "HP:0001051" ], "is_obsolete": "", "replace_id": "" }, "HP:0007570": { "name": [ "hyperkeratosis lenticularis perstans", "hyperkeratosis lenticularis perstans" ], "alt_id": [], "def": "Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa.", "synonym": [ [ "flegel disease", "flegel disease" ] ], "xref": [ "MSH:C538377", "SNOMEDCT_US:28488007", "UMLS:C0263420" ], "is_a": [ "HP:0000962" ], "is_obsolete": "", "replace_id": "" }, "HP:0007572": { "name": [ "hyperpigmented streaks", "hyperpigmented streak" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1866245" ], "is_a": [ "HP:0007400" ], "is_obsolete": "", "replace_id": "" }, "HP:0007573": { "name": [ "late onset atopic dermatitis", "late onset atopic dermatitis" ], "alt_id": [], "def": "A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.", "synonym": [ [ "late onset baby eczema", "late onset baby eczema" ] ], "xref": [ "UMLS:C4024843", "UMLS:C4280439" ], "is_a": [ "HP:0001047" ], "is_obsolete": "", "replace_id": "" }, "HP:0007574": { "name": [ "generalized bronze hyperpigmentation", "generalize bronze hyperpigmentation" ], "alt_id": [], "def": "", "synonym": [ [ "bronze skin", "bronze skin" ], [ "generalised bronze hyperpigmentation", "generalise bronze hyperpigmentation" ] ], "xref": [ "UMLS:C2939074", "UMLS:C4024842" ], "is_a": [ "HP:0007440" ], "is_obsolete": "", "replace_id": "" }, "HP:0007576": { "name": [ "palmar neurofibromas", "palmar neurofibroma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024841" ], "is_a": [ "HP:0001067", "HP:0045010", "HP:0100871" ], "is_obsolete": "", "replace_id": "" }, "HP:0007581": { "name": [ "mediosternal , longitudinal streak of hypopigmentation", "mediosternal , longitudinal streak of hypopigmentation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024840" ], "is_a": [ "HP:0007535" ], "is_obsolete": "", "replace_id": "" }, "HP:0007583": { "name": [ "telangiectasia macularis eruptiva perstans", "telangiectasia macularis eruptiva perstans" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:8214000", "UMLS:C0263402" ], "is_a": [ "HP:0001009" ], "is_obsolete": "", "replace_id": "" }, "HP:0007585": { "name": [ "skin fragility with non - scarring blistering", "skin fragility with non - scarring blistering" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1851562" ], "is_a": [ "HP:0001030" ], "is_obsolete": "", "replace_id": "" }, "HP:0007586": { "name": [ "telangiectases producing 'marbled ' skin", "telangiectases produce 'marbled ' skin" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024839" ], "is_a": [ "HP:0100585" ], "is_obsolete": "", "replace_id": "" }, "HP:0007587": { "name": [ "numerous pigmented freckles", "numerous pigment freckle" ], "alt_id": [], "def": "", "synonym": [ [ "numerous pigmented freckles", "numerous pigment freckle" ] ], "xref": [ "UMLS:C1968565" ], "is_a": [ "HP:0001000" ], "is_obsolete": "", "replace_id": "" }, "HP:0007588": { "name": [ "reticular hyperpigmentation", "reticular hyperpigmentation" ], "alt_id": [ "HP:0007579" ], "def": "Increased pigmentation of the skin with a netlike (reticular) pattern.", "synonym": [ [ "reticulate hyperpigmentation", "reticulate hyperpigmentation" ] ], "xref": [ "UMLS:C1851972" ], "is_a": [ "HP:0007400" ], "is_obsolete": "", "replace_id": "" }, "HP:0007589": { "name": [ "aplasia cutis congenita on trunk or limbs", "aplasia cutis congenita on trunk or limb" ], "alt_id": [], "def": "A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.", "synonym": [], "xref": [ "UMLS:C1863496" ], "is_a": [ "HP:0001057" ], "is_obsolete": "", "replace_id": "" }, "HP:0007590": { "name": [ "aplasia cutis congenita over posterior parietal area", "aplasia cutis congenita over posterior parietal area" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1863495" ], "is_a": [ "HP:0004476" ], "is_obsolete": "", "replace_id": "" }, "HP:0007592": { "name": [ "aplasia / hypoplastia of the eccrine sweat glands", "aplasia / hypoplastia of the eccrine sweat gland" ], "alt_id": [], "def": "Absence or developmental hypoplasia of the eccrine sweat glands.", "synonym": [ [ "hypoplastic - absent eccrine sweat glands", "hypoplastic - absent eccrine sweat gland" ] ], "xref": [ "UMLS:C1844618" ], "is_a": [ "HP:0011135" ], "is_obsolete": "", "replace_id": "" }, "HP:0007595": { "name": [ "redundant skin in infancy", "redundant skin in infancy" ], "alt_id": [], "def": "", "synonym": [ [ "excess skin in infancy", "excess skin in infancy" ] ], "xref": [ "UMLS:C1835587" ], "is_a": [ "HP:0001582" ], "is_obsolete": "", "replace_id": "" }, "HP:0007596": { "name": [ "painful subcutaneous lipomas", "painful subcutaneous lipoma" ], "alt_id": [], "def": "The presence of multiple subcutaneous lipoma that cause pain.", "synonym": [ [ "painful noncancerous fat tissue tumor under the skin", "painful noncancerous fat tissue tumor under the skin" ], [ "painful noncancerous fat tissue tumour under the skin", "painful noncancerous fat tissue tumour under the skin" ] ], "xref": [ "UMLS:C4024838" ], "is_a": [ "HP:0001031" ], "is_obsolete": "", "replace_id": "" }, "HP:0007597": { "name": [ "obsolete congenital palmoplantar keratodermia", "obsolete congenital palmoplantar keratodermia" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0007545" }, "HP:0007598": { "name": [ "bilateral single transverse palmar creases", "bilateral single transverse palmar crease" ], "alt_id": [], "def": "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.", "synonym": [], "xref": [ "UMLS:C1862095" ], "is_a": [ "HP:0000954" ], "is_obsolete": "", "replace_id": "" }, "HP:0007599": { "name": [ "generalized reticulate brown pigmentation", "generalize reticulate brown pigmentation" ], "alt_id": [], "def": "", "synonym": [ [ "generalised reticulate brown pigmentation", "generalise reticulate brown pigmentation" ] ], "xref": [ "UMLS:C4024836" ], "is_a": [ "HP:0007440" ], "is_obsolete": "", "replace_id": "" }, "HP:0007601": { "name": [ "midline facial capillary hemangioma", "midline facial capillary hemangioma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1840310" ], "is_a": [ "HP:0000996" ], "is_obsolete": "", "replace_id": "" }, "HP:0007602": { "name": [ "complex palmar dermatoglyphic pattern", "complex palmar dermatoglyphic pattern" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024835" ], "is_a": [ "HP:0001018" ], "is_obsolete": "", "replace_id": "" }, "HP:0007603": { "name": [ "freckles in sun - exposed areas", "freckle in sun - expose area" ], "alt_id": [], "def": "", "synonym": [ [ "freckles in sun - exposed areas", "freckle in sun - expose area" ] ], "xref": [ "UMLS:C1859923" ], "is_a": [ "HP:0005586" ], "is_obsolete": "", "replace_id": "" }, "HP:0007605": { "name": [ "excessive wrinkling of palmar skin", "excessive wrinkling of palmar skin" ], "alt_id": [ "HP:0007531" ], "def": "", "synonym": [ [ "redundant , wrinkled skin of palms", "redundant , wrinkle skin of palm" ] ], "xref": [ "UMLS:C4021572" ], "is_a": [ "HP:0007392", "HP:0040211" ], "is_obsolete": "", "replace_id": "" }, "HP:0007606": { "name": [ "multiple cutaneous malignancies", "multiple cutaneous malignancy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024834" ], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0007607": { "name": [ "hypohidrotic ectodermal dysplasia", "hypohidrotic ectodermal dysplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D053358", "SNOMEDCT_US:239007005", "SNOMEDCT_US:7731005", "UMLS:C0162359" ], "is_a": [ "HP:0000968" ], "is_obsolete": "", "replace_id": "" }, "HP:0007608": { "name": [ "abnormal palmar dermal ridges", "abnormal palmar dermal ridge" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024833" ], "is_a": [ "HP:0001018" ], "is_obsolete": "", "replace_id": "" }, "HP:0007609": { "name": [ "hypoproteinemic edema", "hypoproteinemic edema" ], "alt_id": [], "def": "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia).", "synonym": [ [ "hypoproteinemic oedema", "hypoproteinemic oedema" ] ], "xref": [ "UMLS:C4024832" ], "is_a": [ "HP:0000969" ], "is_obsolete": "", "replace_id": "" }, "HP:0007610": { "name": [ "blotching pigmentation of the skin", "blotch pigmentation of the skin" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024831" ], "is_a": [ "HP:0001000" ], "is_obsolete": "", "replace_id": "" }, "HP:0007613": { "name": [ "spinous keratoses of palms and soles", "spinous keratoses of palm and sol" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024830" ], "is_a": [ "HP:0000972" ], "is_obsolete": "", "replace_id": "" }, "HP:0007616": { "name": [ "nevus flammeus nuchae", "nevus flammeus nucha" ], "alt_id": [], "def": "Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.", "synonym": [ [ "angel 's kiss", "angel 's kiss" ], [ "port - wine stain on neck", "port - wine stain on neck" ], [ "salmon patch", "salmon patch" ], [ "stork bite", "stork bite" ] ], "xref": [ "UMLS:C0860468", "UMLS:C4024829", "UMLS:C4280438" ], "is_a": [ "HP:0001052" ], "is_obsolete": "", "replace_id": "" }, "HP:0007617": { "name": [ "fine , reticulate skin pigmentation", "fine , reticulate skin pigmentation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024828" ], "is_a": [ "HP:0001000" ], "is_obsolete": "", "replace_id": "" }, "HP:0007618": { "name": [ "subcutaneous calcification", "subcutaneous calcification" ], "alt_id": [], "def": "Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).", "synonym": [ [ "skin calcification", "skin calcification" ] ], "xref": [ "SNOMEDCT_US:17141001", "UMLS:C0263625" ], "is_a": [ "HP:0010766", "HP:0011354" ], "is_obsolete": "", "replace_id": "" }, "HP:0007620": { "name": [ "cutaneous leiomyoma", "cutaneous leiomyoma" ], "alt_id": [ "HP:0007507" ], "def": "The presence of leiomyoma of the skin.", "synonym": [ [ "cutaneous leiomyomas", "cutaneous leiomyoma" ], [ "cutaneous leiomyomata", "cutaneous leiomyomata" ] ], "xref": [ "NCIT:C3157", "SNOMEDCT_US:254767008", "UMLS:C0346064" ], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0007621": { "name": [ "telangiectasia of extensor surfaces", "telangiectasia of extensor surface" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024827" ], "is_a": [ "HP:0100585" ], "is_obsolete": "", "replace_id": "" }, "HP:0007623": { "name": [ "pigmentation anomalies of sun - exposed skin", "pigmentation anomaly of sun - expose skin" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal pigmentation in sun - exposed skin", "abnormal pigmentation in sun - expose skin" ] ], "xref": [ "UMLS:C4024826" ], "is_a": [ "HP:0001000" ], "is_obsolete": "", "replace_id": "" }, "HP:0007626": { "name": [ "mandibular osteomyelitis", "mandibular osteomyelitis" ], "alt_id": [ "HP:0005869" ], "def": "Osteomyelitis of the lower jaw.", "synonym": [ [ "lower jaw bone infection", "low jaw bone infection" ], [ "osteomyelitis , especially of the mandible", "osteomyelitis , especially of the mandible" ] ], "xref": [ "SNOMEDCT_US:109695005", "UMLS:C1290708" ], "is_a": [ "HP:0000277", "HP:0002754" ], "is_obsolete": "", "replace_id": "" }, "HP:0007627": { "name": [ "mandibular condyle aplasia", "mandibular condyle aplasia" ], "alt_id": [], "def": "", "synonym": [ [ "absence of the condylar head of mandible", "absence of the condylar head of mandible" ], [ "absence of the condylar neck of mandible", "absence of the condylar neck of mandible" ], [ "absence of the condylar process of mandible", "absence of the condylar process of mandible" ], [ "agenesis of condylar head of mandible", "agenesis of condylar head of mandible" ], [ "agenesis of condylar neck of mandible", "agenesis of condylar neck of mandible" ], [ "agenesis of condylar process of mandible", "agenesis of condylar process of mandible" ], [ "failure of development of condylar head of mandible", "failure of development of condylar head of mandible" ], [ "failure of development of condylar neck of mandible", "failure of development of condylar neck of mandible" ], [ "failure of development of the condylar process of mandible", "failure of development of the condylar process of mandible" ], [ "underdevelopment of condylar head of mandible", "underdevelopment of condylar head of mandible" ], [ "underdevelopment of condylar neck of mandible", "underdevelopment of condylar neck of mandible" ], [ "underdevelopment of condylar process of mandible", "underdevelopment of condylar process of mandible" ] ], "xref": [ "SNOMEDCT_US:235119009", "UMLS:C0399570", "UMLS:C4280429", "UMLS:C4280430", "UMLS:C4280431", "UMLS:C4280432", "UMLS:C4280433", "UMLS:C4280434", "UMLS:C4280435", "UMLS:C4280436", "UMLS:C4280437" ], "is_a": [ "HP:0005790" ], "is_obsolete": "", "replace_id": "" }, "HP:0007628": { "name": [ "mandibular condyle hypoplasia", "mandibular condyle hypoplasia" ], "alt_id": [], "def": "", "synonym": [ [ "decreased size of condylar process of mandible", "decreased size of condylar process of mandible" ], [ "decreased size of mandibular condyle", "decreased size of mandibular condyle" ], [ "hypoplasia of condylar head of mandible", "hypoplasia of condylar head of mandible" ], [ "hypoplasia of condylar neck of mandible", "hypoplasia of condylar neck of mandible" ], [ "hypoplasia of condylar process of mandible", "hypoplasia of condylar process of mandible" ], [ "hypoplasia of mandibular condyle", "hypoplasia of mandibular condyle" ], [ "hypoplasia of subcondylar region of mandible", "hypoplasia of subcondylar region of mandible" ], [ "hypotrophic condylar process of mandible", "hypotrophic condylar process of mandible" ], [ "hypotrophic mandibular condyle", "hypotrophic mandibular condyle" ], [ "small condylar head of mandible", "small condylar head of mandible" ], [ "small condylar neck of mandible", "small condylar neck of mandible" ], [ "small mandibular condyle", "small mandibular condyle" ] ], "xref": [ "SNOMEDCT_US:235120003", "UMLS:C0399572", "UMLS:C4280423", "UMLS:C4280424", "UMLS:C4280425", "UMLS:C4280426", "UMLS:C4280427", "UMLS:C4280428" ], "is_a": [ "HP:0005790" ], "is_obsolete": "", "replace_id": "" }, "HP:0007633": { "name": [ "bilateral microphthalmos", "bilateral microphthalmos" ], "alt_id": [ "HP:0001143", "HP:0001585" ], "def": "A developmental anomaly characterized by abnormal smallness of both eyes.", "synonym": [ [ "abnormally small eyeball on both sides", "abnormally small eyeball on both side" ], [ "bilateral nanophthalmos", "bilateral nanophthalmos" ], [ "decreased size of eyeballs", "decreased size of eyeball" ], [ "decreased size of globes of eyes", "decreased size of globe of eye" ], [ "microphthalmia , bilateral", "microphthalmia , bilateral" ] ], "xref": [ "UMLS:C1843496", "UMLS:C4280421", "UMLS:C4280422" ], "is_a": [ "HP:0000568" ], "is_obsolete": "", "replace_id": "" }, "HP:0007634": { "name": [ "nonarteritic anterior ischemic optic neuropathy", "nonarteritic anterior ischemic optic neuropathy" ], "alt_id": [], "def": "An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.", "synonym": [ [ "nonarteritic anterior ischaemic optic neuropathy", "nonarteritic anterior ischaemic optic neuropathy" ] ], "xref": [ "UMLS:C1852242" ], "is_a": [ "HP:0001138" ], "is_obsolete": "", "replace_id": "" }, "HP:0007641": { "name": [ "dyschromatopsia", "dyschromatopsia" ], "alt_id": [], "def": "A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.", "synonym": [ [ "color blindness", "color blindness" ], [ "colour blindness", "colour blindness" ] ], "xref": [ "UMLS:C0858618" ], "is_a": [ "HP:0000551" ], "is_obsolete": "", "replace_id": "" }, "HP:0007642": { "name": [ "congenital stationary night blindness", "congenital stationary night blindness" ], "alt_id": [ "HP:0007684", "HP:0007861", "HP:0007953" ], "def": "A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.", "synonym": [ [ "congenital night blindness", "congenital night blindness" ], [ "night blindness since birth", "night blindness since birth" ], [ "night blindness , congenital", "night blindness , congenital" ], [ "night blindness , congenital stationary", "night blindness , congenital stationary" ], [ "night blindness , congenital stationary , complete", "night blindness , congenital stationary , complete" ], [ "night blindness , stationary", "night blindness , stationary" ], [ "static congenital hemeralopia", "static congenital hemeralopia" ] ], "xref": [ "MSH:C536122", "MSH:C537743", "SNOMEDCT_US:193687000", "SNOMEDCT_US:232061009", "UMLS:C0339535", "UMLS:C1306122", "UMLS:C3551052", "UMLS:C4048798" ], "is_a": [ "HP:0000556", "HP:0000662" ], "is_obsolete": "", "replace_id": "" }, "HP:0007643": { "name": [ "peripheral tractional retinal detachment", "peripheral tractional retinal detachment" ], "alt_id": [], "def": "Tractional retinal detachment at the periphery of the retina.", "synonym": [ [ "peripheral traction retinal detachment", "peripheral traction retinal detachment" ], [ "tractional retinal detachment at the periphery of the retina", "tractional retinal detachment at the periphery of the retina" ] ], "xref": [ "UMLS:C4024825" ], "is_a": [ "HP:0007917" ], "is_obsolete": "", "replace_id": "" }, "HP:0007646": { "name": [ "absent lower eyelashes", "absent low eyelash" ], "alt_id": [], "def": "Lack of eyelashes on the lower lid.", "synonym": [ [ "absent lower eyelashes", "absent low eyelash" ], [ "agenesis of lower eyelashes", "agenesis of low eyelash" ], [ "aplasia of lower eyelashes", "aplasia of low eyelash" ], [ "atrichia of lower eyelashes", "atrichia of low eyelash" ], [ "failure of development of lower eyelashes", "failure of development of low eyelash" ] ], "xref": [ "UMLS:C4024824" ], "is_a": [ "HP:0000561" ], "is_obsolete": "", "replace_id": "" }, "HP:0007647": { "name": [ "congenital extraocular muscle anomaly", "congenital extraocular muscle anomaly" ], "alt_id": [], "def": "Congenital abnormality of the extraocular muscles.", "synonym": [], "xref": [ "UMLS:C4024823" ], "is_a": [ "HP:0008049" ], "is_obsolete": "", "replace_id": "" }, "HP:0007648": { "name": [ "punctate cataract", "punctate cataract" ], "alt_id": [], "def": "A type of cataract with punctate opacities of the lens.", "synonym": [ [ "punctate lenticular opacities", "punctate lenticular opacity" ] ], "xref": [ "SNOMEDCT_US:40714009", "UMLS:C0271165", "UMLS:C1969675" ], "is_a": [ "HP:0010920" ], "is_obsolete": "", "replace_id": "" }, "HP:0007649": { "name": [ "congenital hypertrophy of retinal pigment epithelium", "congenital hypertrophy of retinal pigment epithelium" ], "alt_id": [], "def": "Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.", "synonym": [], "xref": [ "SNOMEDCT_US:232074003", "UMLS:C0339555" ], "is_a": [ "HP:0011512" ], "is_obsolete": "", "replace_id": "" }, "HP:0007650": { "name": [ "progressive ophthalmoplegia", "progressive ophthalmoplegia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C2062713" ], "is_a": [ "HP:0000602" ], "is_obsolete": "", "replace_id": "" }, "HP:0007651": { "name": [ "ectropion of lower eyelids", "ectropion of low eyelid" ], "alt_id": [], "def": "", "synonym": [ [ "everted lower eyelids", "evert low eyelid" ], [ "lower eyelid folded out", "low eyelid fold out" ], [ "lower eyelid turned out", "low eyelid turn out" ] ], "xref": [ "SNOMEDCT_US:95758006", "UMLS:C0521736", "UMLS:C4020808" ], "is_a": [ "HP:0000656" ], "is_obsolete": "", "replace_id": "" }, "HP:0007654": { "name": [ "obsolete retinal striation", "obsolete retinal striation" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007655": { "name": [ "eversion of lateral third of lower eyelids", "eversion of lateral third of low eyelid" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1835801" ], "is_a": [ "HP:0000656" ], "is_obsolete": "", "replace_id": "" }, "HP:0007656": { "name": [ "lacrimal gland aplasia", "lacrimal gland aplasia" ], "alt_id": [], "def": "A congenital defect of development characterized by absence of the lacrimal gland.", "synonym": [ [ "absent tear gland", "absent tear gland" ] ], "xref": [ "UMLS:C4024822" ], "is_a": [ "HP:0008038" ], "is_obsolete": "", "replace_id": "" }, "HP:0007657": { "name": [ "diffuse nuclear cataract", "diffuse nuclear cataract" ], "alt_id": [], "def": "Opacity of the entire lens nucleus.", "synonym": [], "xref": [ "UMLS:C4024821" ], "is_a": [ "HP:0100018" ], "is_obsolete": "", "replace_id": "" }, "HP:0007658": { "name": [ "large hyperpigmented retinal spots", "large hyperpigmented retinal spot" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024820" ], "is_a": [ "HP:0011512" ], "is_obsolete": "", "replace_id": "" }, "HP:0007659": { "name": [ "obsolete decreased retinal pigmentation with dispersion", "obsolete decrease retinal pigmentation with dispersion" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007661": { "name": [ "abnormality of chorioretinal pigmentation", "abnormality of chorioretinal pigmentation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024819" ], "is_a": [ "HP:0000532" ], "is_obsolete": "", "replace_id": "" }, "HP:0007663": { "name": [ "reduced visual acuity", "reduce visual acuity" ], "alt_id": [ "HP:0001091", "HP:0007693", "HP:0007739", "HP:0007969", "HP:0008008" ], "def": "", "synonym": [ [ "decreased central vision", "decreased central vision" ], [ "decreased clarity of vision", "decreased clarity of vision" ], [ "decreased visual acuity", "decrease visual acuity" ], [ "poor visual acuity", "poor visual acuity" ] ], "xref": [ "SNOMEDCT_US:13164000", "UMLS:C0234632" ], "is_a": [ "HP:0000505" ], "is_obsolete": "", "replace_id": "" }, "HP:0007665": { "name": [ "curly eyelashes", "curly eyelash" ], "alt_id": [], "def": "Abnormally curly or curved eyelashes.", "synonym": [ [ "curly eyelashes", "curly eyelash" ] ], "xref": [ "UMLS:C2673670" ], "is_a": [ "HP:0000499" ], "is_obsolete": "", "replace_id": "" }, "HP:0007667": { "name": [ "peripheral cystoid retinal degeneration", "peripheral cystoid retinal degeneration" ], "alt_id": [], "def": "Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly.", "synonym": [ [ "cystic retinal degeneration", "cystic retinal degeneration" ], [ "peripheral cystoid degeneration", "peripheral cystoid degeneration" ] ], "xref": [ "UMLS:C1839362" ], "is_a": [ "HP:0007769" ], "is_obsolete": "", "replace_id": "" }, "HP:0007668": { "name": [ "impaired pursuit initiation and maintenance", "impaired pursuit initiation and maintenance" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1969722" ], "is_a": [ "HP:0000617" ], "is_obsolete": "", "replace_id": "" }, "HP:0007670": { "name": [ "abnormal vestibulo - ocular reflex", "abnormal vestibulo - ocular reflex" ], "alt_id": [], "def": "An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.", "synonym": [ [ "abnormal vestibuloocular reflex", "abnormal vestibuloocular reflex" ] ], "xref": [ "UMLS:C4021571" ], "is_a": [ "HP:0001751" ], "is_obsolete": "", "replace_id": "" }, "HP:0007675": { "name": [ "progressive night blindness", "progressive night blindness" ], "alt_id": [], "def": "", "synonym": [ [ "progressive night blindness", "progressive night blindness" ] ], "xref": [ "UMLS:C4024818" ], "is_a": [ "HP:0000662" ], "is_obsolete": "", "replace_id": "" }, "HP:0007676": { "name": [ "hypoplasia of the iris", "hypoplasia of the iris" ], "alt_id": [ "HP:0000638", "HP:0007724", "HP:0007998" ], "def": "Congenital underdevelopment of the iris.", "synonym": [ [ "hypoplastic iris", "hypoplastic iris" ], [ "iris hypoplasia", "iris hypoplasia" ], [ "underdeveloped iris", "underdeveloped iris" ] ], "xref": [ "SNOMEDCT_US:95714006", "UMLS:C0344539" ], "is_a": [ "HP:0008053" ], "is_obsolete": "", "replace_id": "" }, "HP:0007677": { "name": [ "vitelliform - like macular lesions", "vitelliform - like macular lesion" ], "alt_id": [ "HP:0007878" ], "def": "Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula.", "synonym": [ [ "vitelliform macular dystrophy", "vitelliform macular dystrophy" ], [ "vitelliform macular lesions", "vitelliform macular lesion" ] ], "xref": [ "MSH:D057826", "SNOMEDCT_US:90036004", "UMLS:C0339510", "UMLS:C4024817" ], "is_a": [ "HP:0030500" ], "is_obsolete": "", "replace_id": "" }, "HP:0007678": { "name": [ "lacrimal duct stenosis", "lacrimal duct stenosis" ], "alt_id": [ "HP:0007669" ], "def": "Narrowing of a tear duct (lacrimal duct).", "synonym": [ [ "narrowing of the tear duct", "narrowing of the tear duct" ], [ "nasolacrimal duct stenosis", "nasolacrimal duct stenosis" ] ], "xref": [ "SNOMEDCT_US:231841004", "UMLS:C0238300" ], "is_a": [ "HP:0000579" ], "is_obsolete": "", "replace_id": "" }, "HP:0007680": { "name": [ "depigmented fundus", "depigmented fundus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024816" ], "is_a": [ "HP:0007894" ], "is_obsolete": "", "replace_id": "" }, "HP:0007685": { "name": [ "peripheral retinal avascularization", "peripheral retinal avascularization" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1851406" ], "is_a": [ "HP:0008046" ], "is_obsolete": "", "replace_id": "" }, "HP:0007686": { "name": [ "abnormal pupillary function", "abnormal pupillary function" ], "alt_id": [], "def": "A functional abnormality of the pupil.", "synonym": [], "xref": [ "MSH:D011681", "SNOMEDCT_US:72124005", "UMLS:C0917967" ], "is_a": [ "HP:0012373" ], "is_obsolete": "", "replace_id": "" }, "HP:0007687": { "name": [ "unilateral ptosis", "unilateral ptosis" ], "alt_id": [], "def": "A unilateral form of ptosis.", "synonym": [ [ "dropping of one upper eyelid", "dropping of one upper eyelid" ] ], "xref": [ "UMLS:C1866806" ], "is_a": [ "HP:0000508" ], "is_obsolete": "", "replace_id": "" }, "HP:0007688": { "name": [ "undetectable light - and dark - adapted electroretinogram", "undetectable light - and dark - adapt electroretinogram" ], "alt_id": [ "HP:0003230", "HP:0008280" ], "def": "Absence of the combined rod-and-cone response on electroretinogram.", "synonym": [ [ "absent cone and rod functions by electroretinogram", "absent cone and rod function by electroretinogram" ], [ "absent rod - and cone - mediated responses on erg", "absent rod - and cone - mediate response on erg" ] ], "xref": [ "UMLS:C4021570" ], "is_a": [ "HP:0008323" ], "is_obsolete": "", "replace_id": "" }, "HP:0007690": { "name": [ "map - dot - fingerprint corneal dystrophy", "map - dot - fingerprint corneal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:32935005", "UMLS:C0271285" ], "is_a": [ "HP:0200020" ], "is_obsolete": "", "replace_id": "" }, "HP:0007691": { "name": [ "obsolete short curly eyelashes", "obsolete short curly eyelash" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007692": { "name": [ "obsolete nonnuclear polymorphic congenital cataract", "obsolete nonnuclear polymorphic congenital cataract" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000519" }, "HP:0007695": { "name": [ "abnormal pupillary light reflex", "abnormal pupillary light reflex" ], "alt_id": [], "def": "An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.", "synonym": [], "xref": [ "UMLS:C1970591" ], "is_a": [ "HP:0007686" ], "is_obsolete": "", "replace_id": "" }, "HP:0007697": { "name": [ "hypoplasia of the lower eyelids", "hypoplasia of the low eyelid" ], "alt_id": [], "def": "Underdevelopment of the lower eyelid.", "synonym": [ [ "decreased size of lower eyelid", "decreased size of low eyelid" ], [ "hypotrophic lower eyelid", "hypotrophic low eyelid" ], [ "short lower eyelid", "short low eyelid" ], [ "small lower eyelid", "small low eyelid" ], [ "underdevelopment of lower eyelid", "underdevelopment of low eyelid" ] ], "xref": [ "UMLS:C4024814", "UMLS:C4280270", "UMLS:C4280420" ], "is_a": [ "HP:0430009" ], "is_obsolete": "", "replace_id": "" }, "HP:0007698": { "name": [ "obsolete retinal pigment epithelial atrophy", "obsolete retinal pigment epithelial atrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007700": { "name": [ "ocular anterior segment dysgenesis", "ocular anterior segment dysgenesis" ], "alt_id": [ "HP:0007696", "HP:0007699", "HP:0008040" ], "def": "Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.", "synonym": [ [ "anterior chamber cleavage defect", "anterior chamber cleavage defect" ], [ "anterior chamber cleavage disorder", "anterior chamber cleavage disorder" ], [ "anterior chamber malformation", "anterior chamber malformation" ], [ "anterior chamber mesodermal anomalies", "anterior chamber mesodermal anomaly" ], [ "anterior segment developmental abnormality", "anterior segment developmental abnormality" ], [ "anterior segment dysgenesis", "anterior segment dysgenesis" ], [ "anterior segment mesencyhmal dysgenesis", "anterior segment mesencyhmal dysgenesis" ], [ "anterior segment ocular dysgenesis", "anterior segment ocular dysgenesis" ] ], "xref": [ "SNOMEDCT_US:65075004", "UMLS:C0266525" ], "is_a": [ "HP:0004328" ], "is_obsolete": "", "replace_id": "" }, "HP:0007702": { "name": [ "obsolete pigmentary retinal deposits", "obsolete pigmentary retinal deposit" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000580" }, "HP:0007703": { "name": [ "abnormality of retinal pigmentation", "abnormality of retinal pigmentation" ], "alt_id": [ "HP:0007741", "HP:0007743", "HP:0008051" ], "def": "", "synonym": [ [ "abnormal retinal pigmentation", "abnormal retinal pigmentation" ], [ "abnormality of retinal pigment epithelium", "abnormality of retinal pigment epithelium" ], [ "abnormality of rpe", "abnormality of rpe" ], [ "abnormality of the retinal pigment epithelium", "abnormality of the retinal pigment epithelium" ], [ "retinal pigmentary anomaly", "retinal pigmentary anomaly" ] ], "xref": [ "SNOMEDCT_US:421689001", "UMLS:C1720508", "UMLS:C1862475" ], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0007704": { "name": [ "paroxysmal involuntary eye movements", "paroxysmal involuntary eye movement" ], "alt_id": [], "def": "Sudden-onset episode of abnormal, involuntary eye movements.", "synonym": [ [ "abnormal eye movements , paroxysmal", "abnormal eye movement , paroxysmal" ] ], "xref": [ "UMLS:C1847515" ], "is_a": [ "HP:0012547" ], "is_obsolete": "", "replace_id": "" }, "HP:0007705": { "name": [ "corneal degeneration", "corneal degeneration" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:111521006", "UMLS:C0155118" ], "is_a": [ "HP:0000481" ], "is_obsolete": "", "replace_id": "" }, "HP:0007707": { "name": [ "congenital aphakia", "congenital aphakia" ], "alt_id": [], "def": "Absence of the crystalline lens of the eye as a result of a developmental defect.", "synonym": [ [ "lens agenesis", "lens agenesis" ] ], "xref": [ "MSH:C537786", "UMLS:C1853230" ], "is_a": [ "HP:0008063" ], "is_obsolete": "", "replace_id": "" }, "HP:0007708": { "name": [ "absent inner eyelashes", "absent inner eyelash" ], "alt_id": [], "def": "", "synonym": [ [ "absent inner eyelashes", "absent inner eyelash" ] ], "xref": [ "UMLS:C4024812" ], "is_a": [ "HP:0000561" ], "is_obsolete": "", "replace_id": "" }, "HP:0007709": { "name": [ "band - shaped corneal dystrophy", "band - shaped corneal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C562399", "SNOMEDCT_US:35055000", "UMLS:C0155120" ], "is_a": [ "HP:0001131" ], "is_obsolete": "", "replace_id": "" }, "HP:0007710": { "name": [ "peripheral vitreous opacities", "peripheral vitreous opacity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024811" ], "is_a": [ "HP:0004327" ], "is_obsolete": "", "replace_id": "" }, "HP:0007712": { "name": [ "obsolete choroidal dystrophy", "obsolete choroidal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007713": { "name": [ "obsolete juvenile zonular cataracts", "obsolete juvenile zonular cataract" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0010920" }, "HP:0007715": { "name": [ "weak extraocular muscles", "weak extraocular muscle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1859436" ], "is_a": [ "HP:0000597" ], "is_obsolete": "", "replace_id": "" }, "HP:0007716": { "name": [ "uveal melanoma", "uveal melanoma" ], "alt_id": [], "def": "A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid).", "synonym": [ [ "intraocular melanoma", "intraocular melanoma" ] ], "xref": [ "MSH:C536494", "NCIT:C3224", "UMLS:C0220633" ], "is_a": [ "HP:0002861", "HP:0100012" ], "is_obsolete": "", "replace_id": "" }, "HP:0007717": { "name": [ "chronic irritative conjunctivitis", "chronic irritative conjunctivitis" ], "alt_id": [], "def": "A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes.", "synonym": [], "xref": [ "UMLS:C4024810" ], "is_a": [ "HP:0000509" ], "is_obsolete": "", "replace_id": "" }, "HP:0007720": { "name": [ "flat cornea", "flat cornea" ], "alt_id": [], "def": "Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.", "synonym": [ [ "cornea plana", "cornea plana" ] ], "xref": [ "SNOMEDCT_US:204145006", "UMLS:C0344529" ], "is_a": [ "HP:0100691" ], "is_obsolete": "", "replace_id": "" }, "HP:0007721": { "name": [ "saccular conjunctival dilatations", "saccular conjunctival dilatation" ], "alt_id": [], "def": "Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva.", "synonym": [ [ "saccular conjunctival aneurysms", "saccular conjunctival aneurysm" ] ], "xref": [ "UMLS:C3277464" ], "is_a": [ "HP:0008054" ], "is_obsolete": "", "replace_id": "" }, "HP:0007722": { "name": [ "retinal pigment epithelial atrophy", "retinal pigment epithelial atrophy" ], "alt_id": [ "HP:0007698", "HP:0008017" ], "def": "Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.", "synonym": [], "xref": [ "UMLS:C1840457" ], "is_a": [ "HP:0001105" ], "is_obsolete": "", "replace_id": "" }, "HP:0007727": { "name": [ "opacification of the corneal epithelium", "opacification of the corneal epithelium" ], "alt_id": [], "def": "Lack of transparency of the corneal epithelium.", "synonym": [ [ "superficial corneal opacities", "superficial corneal opacity" ] ], "xref": [ "UMLS:C1849198" ], "is_a": [ "HP:0007957" ], "is_obsolete": "", "replace_id": "" }, "HP:0007728": { "name": [ "congenital miosis", "congenital miosis" ], "alt_id": [], "def": "Abnormal (non-physiological) constriction of the pupil of congenital onset.", "synonym": [], "xref": [ "MSH:C537550", "SNOMEDCT_US:400962005", "UMLS:C1303009" ], "is_a": [ "HP:0000616" ], "is_obsolete": "", "replace_id": "" }, "HP:0007730": { "name": [ "iris hypopigmentation", "iris hypopigmentation" ], "alt_id": [], "def": "An abnormal reduction in the amount of pigmentation of the iris.", "synonym": [ [ "light eye color", "light eye color" ], [ "light eye colour", "light eye colour" ], [ "reduced iris pigmentation", "reduce iris pigmentation" ] ], "xref": [ "SNOMEDCT_US:247032003", "SNOMEDCT_US:70397008", "UMLS:C0154920" ], "is_a": [ "HP:0008034" ], "is_obsolete": "", "replace_id": "" }, "HP:0007731": { "name": [ "chorioretinal dysplasia", "chorioretinal dysplasia" ], "alt_id": [], "def": "Abnormal development of the choroid and retina.", "synonym": [], "xref": [ "UMLS:C4024809" ], "is_a": [ "HP:0000532" ], "is_obsolete": "", "replace_id": "" }, "HP:0007732": { "name": [ "lacrimal gland hypoplasia", "lacrimal gland hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the lacrimal gland.", "synonym": [ [ "hypoplastic lacrimal gland", "hypoplastic lacrimal gland" ], [ "underdeveloped tear gland", "underdeveloped tear gland" ] ], "xref": [ "UMLS:C1863200" ], "is_a": [ "HP:0008038" ], "is_obsolete": "", "replace_id": "" }, "HP:0007733": { "name": [ "laterally curved eyebrow", "laterally curve eyebrow" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1846266" ], "is_a": [ "HP:0000534" ], "is_obsolete": "", "replace_id": "" }, "HP:0007734": { "name": [ "enlarged lacrimal glands", "enlarge lacrimal gland" ], "alt_id": [], "def": "Abnormally big lacrimal glands.", "synonym": [ [ "enlarged tear gland", "enlarge tear gland" ] ], "xref": [ "UMLS:C1867030" ], "is_a": [ "HP:0011482" ], "is_obsolete": "", "replace_id": "" }, "HP:0007736": { "name": [ "obsolete pericentral retinal dystrophy", "obsolete pericentral retinal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007737": { "name": [ "bone spicule pigmentation of the retina", "bone spicule pigmentation of the retina" ], "alt_id": [ "HP:0007644", "HP:0007683", "HP:0007823" ], "def": "Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).", "synonym": [ [ "bone corpuscle fundus pigmentation", "bone corpuscle fundus pigmentation" ], [ "fundus with peripheral bony spicules", "fundus with peripheral bony spicule" ], [ "retinal 'bone corpuscle ' pigmentation", "retinal 'bone corpuscle ' pigmentation" ], [ "retinal bone corpuscle pigmentation", "retinal bone corpuscle pigmentation" ], [ "retinal pigmented bone spicules", "retinal pigment bone spicule" ] ], "xref": [ "UMLS:C1836926" ], "is_a": [ "HP:0000580" ], "is_obsolete": "", "replace_id": "" }, "HP:0007738": { "name": [ "uncontrolled eye movements", "uncontrolled eye movement" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1854686" ], "is_a": [ "HP:0012547" ], "is_obsolete": "", "replace_id": "" }, "HP:0007739": { "name": [ "obsolete mildly reduced visual acuity", "obsolete mildly reduce visual acuity" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0007663" }, "HP:0007740": { "name": [ "long eyelashes in irregular rows", "long eyelash in irregular row" ], "alt_id": [], "def": "", "synonym": [ [ "long eyelashes in irregular rows", "long eyelash in irregular row" ] ], "xref": [ "UMLS:C1850640" ], "is_a": [ "HP:0000527" ], "is_obsolete": "", "replace_id": "" }, "HP:0007744": { "name": [ "obsolete iridoretinal coloboma", "obsolete iridoretinal coloboma" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007747": { "name": [ "monocular horizontal nystagmus", "monocular horizontal nystagmus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024807" ], "is_a": [ "HP:0000666" ], "is_obsolete": "", "replace_id": "" }, "HP:0007748": { "name": [ "obsolete irido - fundal coloboma", "obsolete irido - fundal coloboma" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007750": { "name": [ "hypoplasia of the fovea", "hypoplasia of the fovea" ], "alt_id": [], "def": "Underdevelopment of the fovea centralis.", "synonym": [ [ "dull foveal reflex", "dull foveal reflex" ], [ "foveal hypoplasia", "foveal hypoplasia" ] ], "xref": [ "UMLS:C2673946", "UMLS:C4072863" ], "is_a": [ "HP:0008060" ], "is_obsolete": "", "replace_id": "" }, "HP:0007754": { "name": [ "macular dystrophy", "macular dystrophy" ], "alt_id": [ "HP:0007638", "HP:0007798", "HP:0007914", "HP:0007919", "HP:0007999" ], "def": "Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.", "synonym": [], "xref": [ "UMLS:C0730292" ], "is_a": [ "HP:0000556", "HP:0001103" ], "is_obsolete": "", "replace_id": "" }, "HP:0007755": { "name": [ "juvenile epithelial corneal dystrophy", "juvenile epithelial corneal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D053559", "SNOMEDCT_US:1674008", "UMLS:C0339277" ], "is_a": [ "HP:0200020" ], "is_obsolete": "", "replace_id": "" }, "HP:0007756": { "name": [ "obsolete slitlike anterior chamber angles in children", "obsolete slitlike anterior chamber angle in child" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000594" }, "HP:0007757": { "name": [ "obsolete hypoplasia of choroid", "obsolete hypoplasia of choroid" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000610" }, "HP:0007758": { "name": [ "obsolete congenital visual impairment", "obsolete congenital visual impairment" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000505" }, "HP:0007759": { "name": [ "opacification of the corneal stroma", "opacification of the corneal stroma" ], "alt_id": [ "HP:0000515", "HP:0007662", "HP:0007896", "HP:0007966" ], "def": "Reduced transparency of the stroma of cornea.", "synonym": [ [ "cloudy cornea", "cloudy cornea" ], [ "cloudy corneas", "cloudy cornea" ], [ "corneal stromal opacity", "corneal stromal opacity" ] ], "xref": [ "SNOMEDCT_US:246957002", "UMLS:C0423250", "UMLS:C1856661" ], "is_a": [ "HP:0007957", "HP:0011492" ], "is_obsolete": "", "replace_id": "" }, "HP:0007760": { "name": [ "crystalline corneal dystrophy", "crystalline corneal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C535475", "SNOMEDCT_US:39662004", "SNOMEDCT_US:419395007", "UMLS:C0271287" ], "is_a": [ "HP:0007856" ], "is_obsolete": "", "replace_id": "" }, "HP:0007761": { "name": [ "pericentral scotoma", "pericentral scotoma" ], "alt_id": [], "def": "A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.", "synonym": [], "xref": [ "SNOMEDCT_US:404650002", "UMLS:C1321308" ], "is_a": [ "HP:0000575" ], "is_obsolete": "", "replace_id": "" }, "HP:0007763": { "name": [ "retinal telangiectasia", "retinal telangiectasia" ], "alt_id": [], "def": "Dilatation of small blood vessels of the retina.", "synonym": [], "xref": [ "SNOMEDCT_US:84884003", "UMLS:C0154835" ], "is_a": [ "HP:0001009", "HP:0008046" ], "is_obsolete": "", "replace_id": "" }, "HP:0007765": { "name": [ "deep anterior chamber", "deep anterior chamber" ], "alt_id": [], "def": "Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.", "synonym": [], "xref": [ "SNOMEDCT_US:246991003", "UMLS:C0423280" ], "is_a": [ "HP:0000593" ], "is_obsolete": "", "replace_id": "" }, "HP:0007766": { "name": [ "optic disc hypoplasia", "optic disc hypoplasia" ], "alt_id": [ "HP:0007794", "HP:0007890" ], "def": "Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.", "synonym": [ [ "hypoplastic optic discs", "hypoplastic optic disc" ], [ "hypoplastic optic disks", "hypoplastic optic disk" ] ], "xref": [ "SNOMEDCT_US:373650004", "UMLS:C1298695" ], "is_a": [ "HP:0008058" ], "is_obsolete": "", "replace_id": "" }, "HP:0007768": { "name": [ "central retinal vessel vascular tortuosity", "central retinal vessel vascular tortuosity" ], "alt_id": [ "HP:0008015" ], "def": "The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).", "synonym": [ [ "tortuosity of main retinal vessels", "tortuosity of main retinal vessel" ] ], "xref": [ "UMLS:C4021569" ], "is_a": [ "HP:0000631" ], "is_obsolete": "", "replace_id": "" }, "HP:0007769": { "name": [ "peripheral retinal degeneration", "peripheral retinal degeneration" ], "alt_id": [ "HP:0007782", "HP:0007805" ], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:405721006", "SNOMEDCT_US:61536007", "UMLS:C1320640" ], "is_a": [ "HP:0000546" ], "is_obsolete": "", "replace_id": "" }, "HP:0007770": { "name": [ "hypoplasia of the retina", "hypoplasia of the retina" ], "alt_id": [], "def": "", "synonym": [ [ "retinal hypoplasia", "retinal hypoplasia" ], [ "underdeveloped retina", "underdeveloped retina" ] ], "xref": [ "UMLS:C1854685" ], "is_a": [ "HP:0008061" ], "is_obsolete": "", "replace_id": "" }, "HP:0007772": { "name": [ "impaired smooth pursuit", "impaired smooth pursuit" ], "alt_id": [ "HP:0008029" ], "def": "An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.", "synonym": [ [ "abnormal visual pursuit", "abnormal visual pursuit" ], [ "abnormality of visual tracking", "abnormality of visual tracking" ], [ "impairment of visual pursuit", "impairment of visual pursuit" ] ], "xref": [ "UMLS:C1837458", "UMLS:C1848530" ], "is_a": [ "HP:0000617" ], "is_obsolete": "", "replace_id": "" }, "HP:0007773": { "name": [ "vitreoretinopathy", "vitreoretinopathy" ], "alt_id": [ "HP:0000655" ], "def": "Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.", "synonym": [ [ "vitreoretinal abnormality", "vitreoretinal abnormality" ], [ "vitreoretinal degeneration", "vitreoretinal degeneration" ] ], "xref": [ "UMLS:C1850109" ], "is_a": [ "HP:0004327" ], "is_obsolete": "", "replace_id": "" }, "HP:0007774": { "name": [ "hypoplasia of the ciliary body", "hypoplasia of the ciliary body" ], "alt_id": [], "def": "Underdevelopment of the ciliary body.", "synonym": [], "xref": [ "UMLS:C1836890" ], "is_a": [ "HP:0008055", "HP:0012776" ], "is_obsolete": "", "replace_id": "" }, "HP:0007776": { "name": [ "sparse lower eyelashes", "sparse lower eyelash" ], "alt_id": [ "HP:0007785" ], "def": "", "synonym": [ [ "hypotrichosis of lower eyelashes", "hypotrichosis of low eyelash" ], [ "partial absence of lower eyelashes", "partial absence of low eyelash" ], [ "scanty lower eyelashes", "scanty lower eyelash" ], [ "sparse lower eyelashes", "sparse lower eyelash" ], [ "thin lower eyelashes", "thin low eyelash" ] ], "xref": [ "UMLS:C1835148" ], "is_a": [ "HP:0000653", "HP:0040052" ], "is_obsolete": "", "replace_id": "" }, "HP:0007777": { "name": [ "chorioretinal scar", "chorioretinal scar" ], "alt_id": [], "def": "Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye.", "synonym": [], "xref": [ "SNOMEDCT_US:53854005", "UMLS:C0008512" ], "is_a": [ "HP:0100699", "HP:0200065" ], "is_obsolete": "", "replace_id": "" }, "HP:0007778": { "name": [ "posterior retinal neovascularization", "posterior retinal neovascularization" ], "alt_id": [], "def": "A type of retinal neovascularization that affects the posterior pole of the retina.", "synonym": [ [ "neovascularization of peripheral and posterior retina", "neovascularization of peripheral and posterior retina" ], [ "posterior retinal neovascularisation", "posterior retinal neovascularisation" ] ], "xref": [ "UMLS:C4024803" ], "is_a": [ "HP:0030666" ], "is_obsolete": "", "replace_id": "" }, "HP:0007779": { "name": [ "anterior segment of eye aplasia", "anterior segment of eye aplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1853234" ], "is_a": [ "HP:0008062" ], "is_obsolete": "", "replace_id": "" }, "HP:0007780": { "name": [ "cortical pulverulent cataract", "cortical pulverulent cataract" ], "alt_id": [], "def": "A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.", "synonym": [ [ "cataracts , cortical pulverulent", "cataract , cortical pulverulent" ] ], "xref": [ "UMLS:C4021568" ], "is_a": [ "HP:0010693" ], "is_obsolete": "", "replace_id": "" }, "HP:0007782": { "name": [ "obsolete peripheral retinal cone degeneration", "obsolete peripheral retinal cone degeneration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0007769" }, "HP:0007783": { "name": [ "obsolete butterfly retinal pigment epithelial dystrophy", "obsolete butterfly retinal pigment epithelial dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007786": { "name": [ "obsolete lacunar retinal depigmentation", "obsolete lacunar retinal depigmentation" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0007858" }, "HP:0007787": { "name": [ "posterior subcapsular cataract", "posterior subcapsular cataract" ], "alt_id": [ "HP:0007666", "HP:0007857" ], "def": "A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.", "synonym": [ [ "posterior subcapsular cataracts", "posterior subcapsular cataract" ], [ "posterior subcapsular opacities of the lens", "posterior subcapsular opacity of the lens" ] ], "xref": [ "SNOMEDCT_US:315353005", "UMLS:C0858617" ], "is_a": [ "HP:0000523" ], "is_obsolete": "", "replace_id": "" }, "HP:0007791": { "name": [ "patchy atrophy of the retinal pigment epithelium", "patchy atrophy of the retinal pigment epithelium" ], "alt_id": [], "def": "Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas.", "synonym": [], "xref": [ "UMLS:C4024800" ], "is_a": [ "HP:0007722" ], "is_obsolete": "", "replace_id": "" }, "HP:0007792": { "name": [ "microsaccadic pursuit", "microsaccadic pursuit" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1843892" ], "is_a": [ "HP:0001152" ], "is_obsolete": "", "replace_id": "" }, "HP:0007793": { "name": [ "granular macular appearance", "granular macular appearance" ], "alt_id": [], "def": "Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.", "synonym": [ [ "macular retinal pigment epithelial mottling", "macular retinal pigment epithelial mottling" ] ], "xref": [ "UMLS:C4024799" ], "is_a": [ "HP:0007814", "HP:0008002" ], "is_obsolete": "", "replace_id": "" }, "HP:0007795": { "name": [ "anterior cortical cataract", "anterior cortical cataract" ], "alt_id": [], "def": "A cataract that affects the anterior part of the cortex of the lens.", "synonym": [], "xref": [ "UMLS:C1857308" ], "is_a": [ "HP:0100019" ], "is_obsolete": "", "replace_id": "" }, "HP:0007797": { "name": [ "retinal vascular malformation", "retinal vascular malformation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1861791" ], "is_a": [ "HP:0008046" ], "is_obsolete": "", "replace_id": "" }, "HP:0007798": { "name": [ "obsolete foveal dystrophy", "obsolete foveal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007799": { "name": [ "conjunctival whitish salt - like deposits", "conjunctival whitish salt - like deposit" ], "alt_id": [], "def": "The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis.", "synonym": [], "xref": [ "UMLS:C1968901" ], "is_a": [ "HP:0000502" ], "is_obsolete": "", "replace_id": "" }, "HP:0007800": { "name": [ "increased axial length of the globe", "increase axial length of the globe" ], "alt_id": [], "def": "Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.", "synonym": [ [ "globe elongated", "globe elongate" ], [ "increased axial globe length", "increase axial globe length" ], [ "increased front to back length of eyeball", "increase front to back length of eyeball" ] ], "xref": [ "UMLS:C1835117" ], "is_a": [ "HP:0001090" ], "is_obsolete": "", "replace_id": "" }, "HP:0007801": { "name": [ "obsolete fishnet retinal pigmentation", "obsolete fishnet retinal pigmentation" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007802": { "name": [ "granular corneal dystrophy", "granular corneal dystrophy" ], "alt_id": [], "def": "The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material.", "synonym": [], "xref": [ "MSH:D003317", "SNOMEDCT_US:45283008", "UMLS:C0018179" ], "is_a": [ "HP:0001131" ], "is_obsolete": "", "replace_id": "" }, "HP:0007803": { "name": [ "monochromacy", "monochromacy" ], "alt_id": [ "HP:0007954" ], "def": "Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.", "synonym": [ [ "complete achromatopsia", "complete achromatopsia" ], [ "total colorblindness", "total colorblindness" ] ], "xref": [ "MSH:C536128", "MSH:D003117", "SNOMEDCT_US:56852002", "UMLS:C0152200", "UMLS:C1857618" ], "is_a": [ "HP:0000551" ], "is_obsolete": "", "replace_id": "" }, "HP:0007807": { "name": [ "optic nerve compression", "optic nerve compression" ], "alt_id": [ "HP:0008495" ], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:72983001", "UMLS:C0271344" ], "is_a": [ "HP:0000587", "HP:0001293" ], "is_obsolete": "", "replace_id": "" }, "HP:0007808": { "name": [ "obsolete bilateral retinal coloboma", "obsolete bilateral retinal coloboma" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000480" }, "HP:0007809": { "name": [ "punctate corneal dystrophy", "punctate corneal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024796" ], "is_a": [ "HP:0001131" ], "is_obsolete": "", "replace_id": "" }, "HP:0007810": { "name": [ "obsolete progressive bifocal chorioretinal atrophy", "obsolete progressive bifocal chorioretinal atrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007811": { "name": [ "horizontal pendular nystagmus", "horizontal pendular nystagmus" ], "alt_id": [ "HP:0200069" ], "def": "Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.", "synonym": [], "xref": [ "UMLS:C1866180" ], "is_a": [ "HP:0000666", "HP:0006934", "HP:0012043" ], "is_obsolete": "", "replace_id": "" }, "HP:0007812": { "name": [ "herpetiform corneal ulceration", "herpetiform corneal ulceration" ], "alt_id": [], "def": "The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining.", "synonym": [ [ "dendritic corneal epithelial ulcer", "dendritic corneal epithelial ulcer" ], [ "herpetiform corneal ulcers", "herpetiform corneal ulcer" ] ], "xref": [ "UMLS:C4020911" ], "is_a": [ "HP:0012804" ], "is_obsolete": "", "replace_id": "" }, "HP:0007813": { "name": [ "nongranulomatous uveitis", "nongranulomatous uveitis" ], "alt_id": [], "def": "A form of uveitis that is not associated with the formation of granulomas.", "synonym": [], "xref": [ "UMLS:C4024795" ], "is_a": [ "HP:0000554" ], "is_obsolete": "", "replace_id": "" }, "HP:0007814": { "name": [ "retinal pigment epithelial mottling", "retinal pigment epithelial mottling" ], "alt_id": [ "HP:0001124" ], "def": "Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.", "synonym": [ [ "focal hypopigmentation of the retinal pigment epithelium", "focal hypopigmentation of the retinal pigment epithelium" ], [ "retinal pigment epithelium irregularity", "retinal pigment epithelium irregularity" ], [ "rpe irregularity", "rpe irregularity" ], [ "rpe mottling", "rpe mottling" ], [ "salt and pepper retinal pigmentation", "salt and pepper retinal pigmentation" ], [ "salt and pepper retinopathy", "salt and pepper retinopathy" ] ], "xref": [ "UMLS:C1857644" ], "is_a": [ "HP:0007703" ], "is_obsolete": "", "replace_id": "" }, "HP:0007815": { "name": [ "abnormal distribution of retinal arterioles and venules", "abnormal distribution of retinal arteriole and venule" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3277463" ], "is_a": [ "HP:0008046" ], "is_obsolete": "", "replace_id": "" }, "HP:0007817": { "name": [ "horizontal supranuclear gaze palsy", "horizontal supranuclear gaze palsy" ], "alt_id": [], "def": "A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.", "synonym": [], "xref": [ "UMLS:C4024794" ], "is_a": [ "HP:0000605" ], "is_obsolete": "", "replace_id": "" }, "HP:0007818": { "name": [ "central heterochromia", "central heterochromia" ], "alt_id": [], "def": "The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.", "synonym": [ [ "ring iris heterochromia", "ring iris heterochromia" ] ], "xref": [ "UMLS:C4021567" ], "is_a": [ "HP:0001100" ], "is_obsolete": "", "replace_id": "" }, "HP:0007819": { "name": [ "presenile cataracts", "presenile cataract" ], "alt_id": [ "HP:0007848" ], "def": "Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.", "synonym": [ [ "presenile cataract", "presenile cataract" ] ], "xref": [ "SNOMEDCT_US:441622000", "UMLS:C0154971" ], "is_a": [ "HP:0000518" ], "is_obsolete": "", "replace_id": "" }, "HP:0007820": { "name": [ "lacrimal punctal atresia", "lacrimal punctal atresia" ], "alt_id": [], "def": "Congenital absence or closure of the opening of the lacrimal punctum.", "synonym": [ [ "atretic lacrimal puncta", "atretic lacrimal puncta" ], [ "atretic lacrimal punctum", "atretic lacrimal punctum" ] ], "xref": [ "UMLS:C1863201" ], "is_a": [ "HP:0011479" ], "is_obsolete": "", "replace_id": "" }, "HP:0007822": { "name": [ "central retinal exudate", "central retinal exudate" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024793" ], "is_a": [ "HP:0001147" ], "is_obsolete": "", "replace_id": "" }, "HP:0007824": { "name": [ "total ophthalmoplegia", "total ophthalmoplegia" ], "alt_id": [], "def": "Paralysis of both the extrinsic and intrinsic ocular muscles.", "synonym": [ [ "complete ophthalmoplegia", "complete ophthalmoplegia" ], [ "global paralysis of gaze", "global paralysis of gaze" ], [ "total internal and external ophthalmoplegia", "total internal and external ophthalmoplegia" ] ], "xref": [ "SNOMEDCT_US:78097002", "UMLS:C0155338" ], "is_a": [ "HP:0000602" ], "is_obsolete": "", "replace_id": "" }, "HP:0007825": { "name": [ "obsolete cataracts develop in second or third decade", "obsolete cataract develop in second or third decade" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000518" }, "HP:0007827": { "name": [ "nodular corneal dystrophy", "nodular corneal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024792" ], "is_a": [ "HP:0011494" ], "is_obsolete": "", "replace_id": "" }, "HP:0007829": { "name": [ "obsolete diffuse retinal cone degeneration", "obsolete diffuse retinal cone degeneration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007830": { "name": [ "adult - onset night blindness", "adult - onset night blindness" ], "alt_id": [], "def": "Inability to see well at night or in poor light with onset in adulthood.", "synonym": [ [ "adult - onset night blindness", "adult - onset night blindness" ] ], "xref": [ "UMLS:C4024790" ], "is_a": [ "HP:0000662" ], "is_obsolete": "", "replace_id": "" }, "HP:0007831": { "name": [ "nonprogressive restrictive external ophthalmoplegia", "nonprogressive restrictive external ophthalmoplegia" ], "alt_id": [ "HP:0007682" ], "def": "Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.", "synonym": [], "xref": [ "UMLS:C4024789" ], "is_a": [ "HP:0000544" ], "is_obsolete": "", "replace_id": "" }, "HP:0007832": { "name": [ "pigmentation of the sclera", "pigmentation of the sclera" ], "alt_id": [], "def": "", "synonym": [ [ "pigmentation of the outer white part of the eyeball", "pigmentation of the outer white part of the eyeball" ] ], "xref": [ "UMLS:C1859882" ], "is_a": [ "HP:0000591" ], "is_obsolete": "", "replace_id": "" }, "HP:0007833": { "name": [ "anterior chamber synechiae", "anterior chamber synechiae" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024788" ], "is_a": [ "HP:0000593" ], "is_obsolete": "", "replace_id": "" }, "HP:0007834": { "name": [ "progressive cataract", "progressive cataract" ], "alt_id": [ "HP:0007828" ], "def": "A kind of cataract that progresses with age.", "synonym": [ [ "cataract , progressive", "cataract , progressive" ] ], "xref": [ "UMLS:C4021566" ], "is_a": [ "HP:0000518" ], "is_obsolete": "", "replace_id": "" }, "HP:0007835": { "name": [ "s - shaped palpebral fissures", "s - shaped palpebral fissure" ], "alt_id": [], "def": "", "synonym": [ [ "s - shaped eyes", "s - shaped eye" ], [ "s - shaped opening between the eyelids", "s - shape open between the eyelid" ] ], "xref": [ "UMLS:C4024787" ], "is_a": [ "HP:0200005" ], "is_obsolete": "", "replace_id": "" }, "HP:0007836": { "name": [ "mosaic corneal dystrophy", "mosaic corneal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024786" ], "is_a": [ "HP:0001131" ], "is_obsolete": "", "replace_id": "" }, "HP:0007838": { "name": [ "progressive ptosis", "progressive ptosis" ], "alt_id": [], "def": "A progressive form of ptosis.", "synonym": [ [ "progressive drooping of upper eyelid", "progressive drooping of upper eyelid" ] ], "xref": [ "UMLS:C1834015" ], "is_a": [ "HP:0000508" ], "is_obsolete": "", "replace_id": "" }, "HP:0007840": { "name": [ "long upper eyelashes", "long upper eyelash" ], "alt_id": [], "def": "Increased length of the upper eyelashes.", "synonym": [ [ "ciliary trichomegaly of upper eyelashes", "ciliary trichomegaly of upper eyelash" ], [ "increased length of upper eyelashes", "increased length of upper eyelash" ], [ "long upper eyelashes", "long upper eyelash" ] ], "xref": [ "UMLS:C4024785" ], "is_a": [ "HP:0000527", "HP:0040051" ], "is_obsolete": "", "replace_id": "" }, "HP:0007841": { "name": [ "amyloid deposition in the vitreous humor", "amyloid deposition in the vitreous humor" ], "alt_id": [], "def": "Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity.", "synonym": [ [ "amyloid deposition in the vitreous humour", "amyloid deposition in the vitreous humour" ], [ "vitreous amyloid deposits", "vitreous amyloid deposit" ] ], "xref": [ "UMLS:C4024784" ], "is_a": [ "HP:0004327" ], "is_obsolete": "", "replace_id": "" }, "HP:0007843": { "name": [ "attenuation of retinal blood vessels", "attenuation of retinal blood vessel" ], "alt_id": [], "def": "", "synonym": [ [ "narrowing of blood vessels in back of eye", "narrowing of blood vessel in back of eye" ] ], "xref": [ "UMLS:C3278975" ], "is_a": [ "HP:0008046" ], "is_obsolete": "", "replace_id": "" }, "HP:0007850": { "name": [ "retinal vascular proliferation", "retinal vascular proliferation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D015861", "SNOMEDCT_US:61267008", "UMLS:C0035320" ], "is_a": [ "HP:0008046" ], "is_obsolete": "", "replace_id": "" }, "HP:0007851": { "name": [ "obsolete temporal displacement of maculae", "obsolete temporal displacement of macula" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007852": { "name": [ "obsolete pericentral pigmentary retinopathy", "obsolete pericentral pigmentary retinopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000580" }, "HP:0007854": { "name": [ "glaucomatous visual field defect", "glaucomatous visual field defect" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:370961005", "UMLS:C1299694" ], "is_a": [ "HP:0001123" ], "is_obsolete": "", "replace_id": "" }, "HP:0007856": { "name": [ "punctate opacification of the cornea", "punctate opacification of the cornea" ], "alt_id": [ "HP:0008004" ], "def": "Punctate opacification (reduced transparency) of the corneal stroma.", "synonym": [ [ "punctate corneal opacities", "punctate corneal opacity" ] ], "xref": [ "UMLS:C4021565" ], "is_a": [ "HP:0007759" ], "is_obsolete": "", "replace_id": "" }, "HP:0007858": { "name": [ "chorioretinal lacunae", "chorioretinal lacuna" ], "alt_id": [ "HP:0007786" ], "def": "Punched out lesions in the pigmented layer of the retina.", "synonym": [ [ "lacunar retinal depigmentation", "lacunar retinal depigmentation" ] ], "xref": [ "UMLS:C1844751", "UMLS:C4072866" ], "is_a": [ "HP:0000532" ], "is_obsolete": "", "replace_id": "" }, "HP:0007859": { "name": [ "congenital horizontal nystagmus", "congenital horizontal nystagmus" ], "alt_id": [], "def": "Horizontal nystagmus dating from or present at birth.", "synonym": [ [ "nystagmus , congenital horizontal", "nystagmus , congenital horizontal" ] ], "xref": [ "UMLS:C1866180" ], "is_a": [ "HP:0000666", "HP:0006934" ], "is_obsolete": "", "replace_id": "" }, "HP:0007862": { "name": [ "retinal calcification", "retinal calcification" ], "alt_id": [], "def": "Deposition of calcium salts in the retina.", "synonym": [], "xref": [ "UMLS:C1867289" ], "is_a": [ "HP:0010766", "HP:0030506" ], "is_obsolete": "", "replace_id": "" }, "HP:0007866": { "name": [ "retinal infarction", "retinal infarction" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C0281967" ], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0007867": { "name": [ "restrictive partial external ophthalmoplegia", "restrictive partial external ophthalmoplegia" ], "alt_id": [], "def": "Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position.", "synonym": [], "xref": [ "UMLS:C4024781" ], "is_a": [ "HP:0007936" ], "is_obsolete": "", "replace_id": "" }, "HP:0007868": { "name": [ "obsolete age - related macular degeneration", "obsolete age - related macular degeneration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007869": { "name": [ "obsolete peripheral retinopathy", "obsolete peripheral retinopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007872": { "name": [ "choroidal hemangioma", "choroidal hemangioma" ], "alt_id": [], "def": "The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas.", "synonym": [], "xref": [ "NCIT:C3086", "SNOMEDCT_US:255022003", "UMLS:C0346390" ], "is_a": [ "HP:0001028", "HP:0025568" ], "is_obsolete": "", "replace_id": "" }, "HP:0007873": { "name": [ "abnormally prominent line of schwalbe", "abnormally prominent line of schwalbe" ], "alt_id": [ "HP:0007940" ], "def": "", "synonym": [ [ "prominent schwalbe lines", "prominent schwalbe line" ] ], "xref": [ "UMLS:C1862376" ], "is_a": [ "HP:0008048" ], "is_obsolete": "", "replace_id": "" }, "HP:0007874": { "name": [ "almond - shaped palpebral fissure", "almond - shaped palpebral fissure" ], "alt_id": [], "def": "A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.", "synonym": [ [ "almond shaped eyes", "almond shape eye" ], [ "almond - shaped opening between the eyelids", "almond - shape open between the eyelid" ] ], "xref": [ "UMLS:C4024780" ], "is_a": [ "HP:0200005" ], "is_obsolete": "", "replace_id": "" }, "HP:0007875": { "name": [ "congenital blindness", "congenital blindness" ], "alt_id": [ "HP:0007706" ], "def": "Blindness with onset at birth.", "synonym": [ [ "blindness present at birth", "blindness present at birth" ], [ "congenital amaurosis", "congenital amaurosis" ] ], "xref": [ "SNOMEDCT_US:95486002", "UMLS:C0005754" ], "is_a": [ "HP:0000618" ], "is_obsolete": "", "replace_id": "" }, "HP:0007876": { "name": [ "obsolete juvenile cortical cataract", "obsolete juvenile cortical cataract" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0100019" }, "HP:0007879": { "name": [ "allergic conjunctivitis", "allergic conjunctivitis" ], "alt_id": [], "def": "Allergic Conjunctivitis is an allergic inflammation of the conjunctiva.", "synonym": [], "xref": [ "MSH:D003233", "SNOMEDCT_US:231854006", "SNOMEDCT_US:473460002", "UMLS:C0009766" ], "is_a": [ "HP:0000509", "HP:0012393" ], "is_obsolete": "", "replace_id": "" }, "HP:0007880": { "name": [ "marginal corneal dystrophy", "marginal corneal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024779" ], "is_a": [ "HP:0001131" ], "is_obsolete": "", "replace_id": "" }, "HP:0007881": { "name": [ "central corneal dystrophy", "central corneal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024778" ], "is_a": [ "HP:0011493" ], "is_obsolete": "", "replace_id": "" }, "HP:0007885": { "name": [ "slowed horizontal saccades", "slow horizontal saccade" ], "alt_id": [], "def": "An abnormally slow velocity of horizontal saccadic eye movements.", "synonym": [], "xref": [ "UMLS:C1856477" ], "is_a": [ "HP:0000514" ], "is_obsolete": "", "replace_id": "" }, "HP:0007886": { "name": [ "absent extraocular muscles", "absent extraocular muscle" ], "alt_id": [], "def": "Congenital absence of the extraocular muscles.", "synonym": [ [ "absent ocular muscles", "absent ocular muscle" ], [ "missing eye muscles", "miss eye muscle" ] ], "xref": [ "UMLS:C1408781", "UMLS:C4024777" ], "is_a": [ "HP:0008049" ], "is_obsolete": "", "replace_id": "" }, "HP:0007889": { "name": [ "iridescent posterior subcapsular cataract", "iridescent posterior subcapsular cataract" ], "alt_id": [], "def": "A type of posterior subcapsular cataract characterized by an iridescent color.", "synonym": [ [ "cataracts , posterior , subcapsular , iridescent", "cataract , posterior , subcapsular , iridescent" ] ], "xref": [ "UMLS:C1864573" ], "is_a": [ "HP:0007787" ], "is_obsolete": "", "replace_id": "" }, "HP:0007892": { "name": [ "hypoplasia of the lacrimal punctum", "hypoplasia of the lacrimal punctum" ], "alt_id": [], "def": "Underdevelopment of the lacrimal puncta.", "synonym": [ [ "hypoplasia of the lacrimal puncta", "hypoplasia of the lacrimal puncta" ], [ "hypoplastic lacrimal puncta", "hypoplastic lacrimal puncta" ] ], "xref": [ "UMLS:C4021564" ], "is_a": [ "HP:0011479" ], "is_obsolete": "", "replace_id": "" }, "HP:0007893": { "name": [ "obsolete progressive retinal degeneration", "obsolete progressive retinal degeneration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007894": { "name": [ "hypopigmentation of the fundus", "hypopigmentation of the fundus" ], "alt_id": [ "HP:0001111", "HP:0001487", "HP:0007746", "HP:0007752" ], "def": "Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).", "synonym": [ [ "decreased fundus pigmentation", "decrease fundus pigmentation" ], [ "fundus hypopigmentation", "fundus hypopigmentation" ] ], "xref": [ "SNOMEDCT_US:95694000", "UMLS:C0151891" ], "is_a": [ "HP:0031605" ], "is_obsolete": "", "replace_id": "" }, "HP:0007898": { "name": [ "exudative retinopathy", "exudative retinopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D058456", "SNOMEDCT_US:25506007", "SNOMEDCT_US:360455002", "UMLS:C0154832" ], "is_a": [ "HP:0001147" ], "is_obsolete": "", "replace_id": "" }, "HP:0007899": { "name": [ "retinal nonattachment", "retinal nonattachment" ], "alt_id": [ "HP:0007849" ], "def": "Failure of attachment of the retina during development.", "synonym": [ [ "congenital retinal non - attachment", "congenital retinal non - attachment" ] ], "xref": [ "UMLS:C4021563" ], "is_a": [ "HP:0000541" ], "is_obsolete": "", "replace_id": "" }, "HP:0007900": { "name": [ "hypoplastic lacrimal duct", "hypoplastic lacrimal duct" ], "alt_id": [], "def": "", "synonym": [ [ "underdeveloped tear duct", "underdeveloped tear duct" ] ], "xref": [ "UMLS:C1968574" ], "is_a": [ "HP:0011481" ], "is_obsolete": "", "replace_id": "" }, "HP:0007901": { "name": [ "obsolete retinal malformation", "obsolete retinal malformation" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000479" }, "HP:0007902": { "name": [ "vitreous hemorrhage", "vitreous hemorrhage" ], "alt_id": [], "def": "Bleeding within the vitreous compartment of the eye.", "synonym": [ [ "vitreous haemorrhage", "vitreous haemorrhage" ] ], "xref": [ "MSH:D014823", "SNOMEDCT_US:31341008", "UMLS:C0042909" ], "is_a": [ "HP:0004327", "HP:0011885" ], "is_obsolete": "", "replace_id": "" }, "HP:0007903": { "name": [ "paravenous chorioretinal atrophy", "paravenous chorioretinal atrophy" ], "alt_id": [], "def": "Chorioretinal atrophy along the retinal veins.", "synonym": [], "xref": [ "UMLS:C4072868" ], "is_a": [ "HP:0000533" ], "is_obsolete": "", "replace_id": "" }, "HP:0007905": { "name": [ "abnormal iris vasculature", "abnormal iris vasculature" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of iris blood vessels", "abnormality of iris blood vessel" ] ], "xref": [ "UMLS:C3275963" ], "is_a": [ "HP:0000525", "HP:0008047" ], "is_obsolete": "", "replace_id": "" }, "HP:0007906": { "name": [ "ocular hypertension", "ocular hypertension" ], "alt_id": [], "def": "Intraocular pressure that is 2 standard deviations above the population mean.", "synonym": [ [ "elevated intraocular pressure", "elevate intraocular pressure" ], [ "elevated iop", "elevate iop" ], [ "high eye pressure", "high eye pressure" ], [ "increased intraocular pressure", "increase intraocular pressure" ], [ "increased iop", "increase iop" ], [ "raised intraocular pressure", "raise intraocular pressure" ], [ "raised iop", "raise iop" ] ], "xref": [ "SNOMEDCT_US:112222000", "UMLS:C0234708" ], "is_a": [ "HP:0012633" ], "is_obsolete": "", "replace_id": "" }, "HP:0007910": { "name": [ "obsolete nonprogressive congenital retinal dystrophy", "obsolete nonprogressive congenital retinal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007911": { "name": [ "congenital bilateral ptosis", "congenital bilateral ptosis" ], "alt_id": [ "HP:0007719", "HP:0007955" ], "def": "", "synonym": [ [ "congenital drooping of both upper eyelids", "congenital drooping of both upper eyelid" ], [ "ptosis , bilateral congenital", "ptosis , bilateral congenital" ], [ "ptosis , congenital bilateral", "ptosis , congenital bilateral" ] ], "xref": [ "UMLS:C1836264" ], "is_a": [ "HP:0001488", "HP:0007970" ], "is_obsolete": "", "replace_id": "" }, "HP:0007913": { "name": [ "reticular retinal dystrophy", "reticular retinal dystrophy" ], "alt_id": [], "def": "A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation.", "synonym": [], "xref": [ "UMLS:C4024776" ], "is_a": [ "HP:0007963" ], "is_obsolete": "", "replace_id": "" }, "HP:0007915": { "name": [ "polymorphous posterior corneal dystrophy", "polymorphous posterior corneal dystrophy" ], "alt_id": [], "def": "This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma.", "synonym": [], "xref": [ "MSH:C562745", "SNOMEDCT_US:29504002", "UMLS:C0339284" ], "is_a": [ "HP:0011489", "HP:0011491" ], "is_obsolete": "", "replace_id": "" }, "HP:0007916": { "name": [ "obsolete small anterior lens surface opacities", "obsolete small anterior lens surface opacity" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007917": { "name": [ "tractional retinal detachment", "tractional retinal detachment" ], "alt_id": [], "def": "A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.", "synonym": [], "xref": [ "UMLS:C1866178" ], "is_a": [ "HP:0000541" ], "is_obsolete": "", "replace_id": "" }, "HP:0007920": { "name": [ "obsolete congenital chorioretinal dystrophy", "obsolete congenital chorioretinal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001135" }, "HP:0007922": { "name": [ "hypermyelinated retinal nerve fibers", "hypermyelinated retinal nerve fiber" ], "alt_id": [ "HP:0007654" ], "def": "", "synonym": [ [ "hypermyelinated retinal nerve fibres", "hypermyelinated retinal nerve fibre" ], [ "retinal striation", "retinal striation" ] ], "xref": [ "UMLS:C1849151" ], "is_a": [ "HP:0012447", "HP:0020119" ], "is_obsolete": "", "replace_id": "" }, "HP:0007923": { "name": [ "obsolete foveal hyperplasia", "obsolete foveal hyperplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007924": { "name": [ "slow decrease in visual acuity", "slow decrease in visual acuity" ], "alt_id": [ "HP:0007652" ], "def": "", "synonym": [ [ "decreased visual acuity , slowly progressive", "decrease visual acuity , slowly progressive" ], [ "slow decrease in sharpness of vision", "slow decrease in sharpness of vision" ], [ "subacute deterioration of visual acuity", "subacute deterioration of visual acuity" ] ], "xref": [ "UMLS:C1853141", "UMLS:C3278981" ], "is_a": [ "HP:0000529" ], "is_obsolete": "", "replace_id": "" }, "HP:0007925": { "name": [ "lacrimal duct aplasia", "lacrimal duct aplasia" ], "alt_id": [], "def": "A congenital defect resulting in absence of the lacrimal duct.", "synonym": [ [ "absent tear duct", "absent tear duct" ] ], "xref": [ "UMLS:C4024773" ], "is_a": [ "HP:0011481" ], "is_obsolete": "", "replace_id": "" }, "HP:0007928": { "name": [ "abnormal flash visual evoked potentials", "abnormal flash visual evoke potential" ], "alt_id": [], "def": "Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room.", "synonym": [], "xref": [ "UMLS:C4024772" ], "is_a": [ "HP:0000649" ], "is_obsolete": "", "replace_id": "" }, "HP:0007929": { "name": [ "peripheral retinal detachment", "peripheral retinal detachment" ], "alt_id": [], "def": "Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina.", "synonym": [], "xref": [ "UMLS:C4024771" ], "is_a": [ "HP:0000541" ], "is_obsolete": "", "replace_id": "" }, "HP:0007930": { "name": [ "obsolete prominent epicanthal folds", "obsolete prominent epicanthal fold" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000286" }, "HP:0007932": { "name": [ "bilateral congenital mydriasis", "bilateral congenital mydriasis" ], "alt_id": [], "def": "Congenital abnormal dilation of the pupil on both sides.", "synonym": [], "xref": [ "UMLS:C4024770" ], "is_a": [ "HP:0011499" ], "is_obsolete": "", "replace_id": "" }, "HP:0007933": { "name": [ "broad lateral eyebrow", "broad lateral eyebrow" ], "alt_id": [], "def": "Regional increase in the width (height) of the lateral eyebrow.", "synonym": [ [ "wide lateral eyebrow", "wide lateral eyebrow" ] ], "xref": [ "UMLS:C1837733" ], "is_a": [ "HP:0011229" ], "is_obsolete": "", "replace_id": "" }, "HP:0007935": { "name": [ "juvenile posterior subcapsular lenticular opacities", "juvenile posterior subcapsular lenticular opacity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1863408" ], "is_a": [ "HP:0007787" ], "is_obsolete": "", "replace_id": "" }, "HP:0007936": { "name": [ "restrictive external ophthalmoplegia", "restrictive external ophthalmoplegia" ], "alt_id": [ "HP:0007846", "HP:0007959", "HP:0008025" ], "def": "Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.", "synonym": [ [ "restrictive external ophthalmoplegia , bilateral", "restrictive external ophthalmoplegia , bilateral" ], [ "restrictive ophthalmoplegia", "restrictive ophthalmoplegia" ] ], "xref": [ "UMLS:C1865918", "UMLS:C4020806" ], "is_a": [ "HP:0000544" ], "is_obsolete": "", "replace_id": "" }, "HP:0007937": { "name": [ "reticular pigmentary degeneration", "reticular pigmentary degeneration" ], "alt_id": [], "def": "A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus.", "synonym": [ [ "fishnet retinal pigmentation", "fishnet retinal pigmentation" ], [ "honeycomb retinal degeneration", "honeycomb retinal degeneration" ] ], "xref": [ "UMLS:C4024769" ], "is_a": [ "HP:0007769", "HP:0011512" ], "is_obsolete": "", "replace_id": "" }, "HP:0007939": { "name": [ "blue cone monochromacy", "blue cone monochromacy" ], "alt_id": [], "def": "A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors.", "synonym": [ [ "blue cone monochromatism", "blue cone monochromatism" ], [ "incomplete achromatopsia", "incomplete achromatopsia" ], [ "s - cone monochromacy", "s - cone monochromacy" ] ], "xref": [ "MSH:C536238", "SNOMEDCT_US:24704003", "UMLS:C0339537" ], "is_a": [ "HP:0011517" ], "is_obsolete": "", "replace_id": "" }, "HP:0007941": { "name": [ "limited extraocular movements", "limited extraocular movement" ], "alt_id": [], "def": "", "synonym": [ [ "limited extraocular movement", "limited extraocular movement" ] ], "xref": [ "UMLS:C1858427" ], "is_a": [ "HP:0000496" ], "is_obsolete": "", "replace_id": "" }, "HP:0007942": { "name": [ "internal ophthalmoplegia", "internal ophthalmoplegia" ], "alt_id": [], "def": "Paralysis of the iris and ciliary apparatus.", "synonym": [], "xref": [ "MSH:D009886", "SNOMEDCT_US:232146005", "UMLS:C0339693" ], "is_a": [ "HP:0000602" ], "is_obsolete": "", "replace_id": "" }, "HP:0007943": { "name": [ "congenital stapes ankylosis", "congenital stapes ankylosis" ], "alt_id": [], "def": "A form of stapes ankylosis with congenital onset.", "synonym": [], "xref": [ "UMLS:C1866657" ], "is_a": [ "HP:0000381" ], "is_obsolete": "", "replace_id": "" }, "HP:0007944": { "name": [ "intermittent microsaccadic pursuits", "intermittent microsaccadic pursuit" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024768" ], "is_a": [ "HP:0001152" ], "is_obsolete": "", "replace_id": "" }, "HP:0007945": { "name": [ "obsolete choroidal degeneration", "obsolete choroidal degeneration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007946": { "name": [ "unilateral narrow palpebral fissure", "unilateral narrow palpebral fissure" ], "alt_id": [], "def": "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.", "synonym": [ [ "narrow palpebral fissure , unilateral", "narrow palpebral fissure , unilateral" ], [ "unequal size of opening between the eyelids", "unequal size of open between the eyelid" ] ], "xref": [ "UMLS:C1866805", "UMLS:C4280419" ], "is_a": [ "HP:0000581" ], "is_obsolete": "", "replace_id": "" }, "HP:0007947": { "name": [ "pericentral retinitis pigmentosa", "pericentral retinitis pigmentosa" ], "alt_id": [], "def": "A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery.", "synonym": [], "xref": [ "MSH:C564838", "UMLS:C1849398" ], "is_a": [ "HP:0000510" ], "is_obsolete": "", "replace_id": "" }, "HP:0007948": { "name": [ "dense posterior cortical cataract", "dense posterior cortical cataract" ], "alt_id": [], "def": "A type of posterior cortical cataract characterized by dense lenticular opacities.", "synonym": [], "xref": [ "UMLS:C4024767" ], "is_a": [ "HP:0010924" ], "is_obsolete": "", "replace_id": "" }, "HP:0007949": { "name": [ "obsolete progressive macular scarring", "obsolete progressive macular scarring" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007950": { "name": [ "peripapillary chorioretinal atrophy", "peripapillary chorioretinal atrophy" ], "alt_id": [], "def": "Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).", "synonym": [], "xref": [ "UMLS:C4024765" ], "is_a": [ "HP:0000533" ], "is_obsolete": "", "replace_id": "" }, "HP:0007956": { "name": [ "obsolete bilateral choroid coloboma", "obsolete bilateral choroid coloboma" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000567" }, "HP:0007957": { "name": [ "corneal opacity", "corneal opacity" ], "alt_id": [ "HP:0007844", "HP:0007883", "HP:0008502" ], "def": "A reduction of corneal clarity.", "synonym": [ [ "corneal clouding", "corneal cloud" ], [ "corneal opacities", "corneal opacity" ], [ "reduction of corneal clarity", "reduction of corneal clarity" ], [ "scarring or clouding of the cornea of the eye", "scar or clouding of the cornea of the eye" ] ], "xref": [ "MSH:D003318", "SNOMEDCT_US:413921009", "SNOMEDCT_US:64634000", "SNOMEDCT_US:95735008", "UMLS:C0010038", "UMLS:C0521719" ], "is_a": [ "HP:0000481" ], "is_obsolete": "", "replace_id": "" }, "HP:0007958": { "name": [ "optic atrophy from cranial nerve compression", "optic atrophy from cranial nerve compression" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024763" ], "is_a": [ "HP:0000648", "HP:0001293" ], "is_obsolete": "", "replace_id": "" }, "HP:0007961": { "name": [ "obsolete rarefaction of retinal pigmentation", "obsolete rarefaction of retinal pigmentation" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007962": { "name": [ "speckled corneal dystrophy", "speckle corneal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021857" ], "is_a": [ "HP:0001131" ], "is_obsolete": "", "replace_id": "" }, "HP:0007963": { "name": [ "pattern dystrophy of the retina", "pattern dystrophy of the retina" ], "alt_id": [], "def": "A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation).", "synonym": [], "xref": [ "UMLS:C4024762" ], "is_a": [ "HP:0000556" ], "is_obsolete": "", "replace_id": "" }, "HP:0007964": { "name": [ "degenerative vitreoretinopathy", "degenerative vitreoretinopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1843486" ], "is_a": [ "HP:0007773" ], "is_obsolete": "", "replace_id": "" }, "HP:0007965": { "name": [ "undetectable visual evoked potentials", "undetectable visual evoke potential" ], "alt_id": [], "def": "", "synonym": [ [ "absence of visual evoked potentials", "absence of visual evoked potential" ], [ "non - detectable vep", "non - detectable vep" ], [ "undetectable vep", "undetectable vep" ] ], "xref": [ "UMLS:C1850069" ], "is_a": [ "HP:0000649" ], "is_obsolete": "", "replace_id": "" }, "HP:0007968": { "name": [ "remnants of the hyaloid vascular system", "remnant of the hyaloid vascular system" ], "alt_id": [], "def": "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.", "synonym": [ [ "congenital retinal septum", "congenital retinal septum" ], [ "persistent fetal vasculature", "persistent fetal vasculature" ], [ "persistent foetal vasculature", "persistent foetal vasculature" ], [ "persistent hyperplasia of primary vitreous", "persistent hyperplasia of primary vitreous" ], [ "persistent hyperplastic primary vitreous", "persistent hyperplastic primary vitreous" ], [ "persistent hypertrophic primary vitreous", "persistent hypertrophic primary vitreous" ], [ "persistent posterior fetal fibrovascular sheath of the lens", "persistent posterior fetal fibrovascular sheath of the lens" ], [ "persistent posterior foetal fibrovascular sheath of the lens", "persistent posterior foetal fibrovascular sheath of the lens" ], [ "persistent tunica vasculosa lentis", "persistent tunica vasculosa lentis" ] ], "xref": [ "MSH:D054514", "SNOMEDCT_US:314270008", "SNOMEDCT_US:44647001", "SNOMEDCT_US:69927002", "UMLS:C0266568" ], "is_a": [ "HP:0004327" ], "is_obsolete": "", "replace_id": "" }, "HP:0007970": { "name": [ "congenital ptosis", "congenital ptosis" ], "alt_id": [], "def": "", "synonym": [ [ "congenital drooping upper eyelid", "congenital droop upper eyelid" ] ], "xref": [ "SNOMEDCT_US:268163008", "SNOMEDCT_US:61989004", "UMLS:C0266573" ], "is_a": [ "HP:0000508" ], "is_obsolete": "", "replace_id": "" }, "HP:0007971": { "name": [ "lamellar cataract", "lamellar cataract" ], "alt_id": [], "def": "A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens.", "synonym": [], "xref": [ "SNOMEDCT_US:204128001", "SNOMEDCT_US:21590003", "UMLS:C0266537" ], "is_a": [ "HP:0010920" ], "is_obsolete": "", "replace_id": "" }, "HP:0007973": { "name": [ "retinal dysplasia", "retinal dysplasia" ], "alt_id": [ "HP:0007901", "HP:0008022" ], "def": "The presence of developmental dysplasia of the retina.", "synonym": [ [ "retinal dysgenesis", "retinal dysgenesis" ] ], "xref": [ "MSH:D015792", "SNOMEDCT_US:95494009", "UMLS:C0035313" ], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0007975": { "name": [ "hypometric horizontal saccades", "hypometric horizontal saccade" ], "alt_id": [], "def": "Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.", "synonym": [], "xref": [ "UMLS:C1856478" ], "is_a": [ "HP:0000571" ], "is_obsolete": "", "replace_id": "" }, "HP:0007976": { "name": [ "cerulean cataract", "cerulean cataract" ], "alt_id": [], "def": "Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary.", "synonym": [ [ "cataracts , congenital , cerulean", "cataract , congenital , cerulean" ] ], "xref": [ "MSH:C537955", "SNOMEDCT_US:204138006", "UMLS:C0344523" ], "is_a": [ "HP:0007648" ], "is_obsolete": "", "replace_id": "" }, "HP:0007979": { "name": [ "gaze - evoked horizontal nystagmus", "gaze - evoked horizontal nystagmus" ], "alt_id": [ "HP:0007639" ], "def": "Horizontal nystagmus made apparent by looking to the right or to the left.", "synonym": [ [ "nystagmus , horizontal gaze - evoked", "nystagmus , horizontal gaze - evoke" ], [ "nystagmus , horizontal , gaze - evoked", "nystagmus , horizontal , gaze - evoke" ] ], "xref": [ "UMLS:C1853394" ], "is_a": [ "HP:0000640", "HP:0000666" ], "is_obsolete": "", "replace_id": "" }, "HP:0007980": { "name": [ "absent retinal pigment epithelium", "absent retinal pigment epithelium" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1852548" ], "is_a": [ "HP:0007894" ], "is_obsolete": "", "replace_id": "" }, "HP:0007981": { "name": [ "obsolete concentric narrowing of visual field", "obsolete concentric narrowing of visual field" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001133" }, "HP:0007982": { "name": [ "obsolete central tapetoretinal dystrophy", "obsolete central tapetoretinal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0007984": { "name": [ "electronegative electroretinogram", "electronegative electroretinogram" ], "alt_id": [], "def": "A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3).", "synonym": [ [ "electronegative erg", "electronegative erg" ], [ "electroretinogram : reduced b - wave amplitude", "electroretinogram : reduce b - wave amplitude" ], [ "reduced amplitude of dark - adapted bright flash electroretinogram b - wave", "reduce amplitude of dark - adapted bright flash electroretinogram b - wave" ], [ "reduced electroretinogram rod b - wave", "reduce electroretinogram rod b - wave" ], [ "reduced erg amplitude of b - wave", "reduce erg amplitude of b - wave" ] ], "xref": [ "UMLS:C4021561" ], "is_a": [ "HP:0030478" ], "is_obsolete": "", "replace_id": "" }, "HP:0007985": { "name": [ "retinal arteriolar occlusion", "retinal arteriolar occlusion" ], "alt_id": [], "def": "Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina.", "synonym": [ [ "blocked retinal artery", "block retinal artery" ] ], "xref": [ "UMLS:C4024761" ], "is_a": [ "HP:0000630", "HP:0100545" ], "is_obsolete": "", "replace_id": "" }, "HP:0007986": { "name": [ "increased retinal vascularity", "increase retinal vascularity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1847882" ], "is_a": [ "HP:0008046" ], "is_obsolete": "", "replace_id": "" }, "HP:0007987": { "name": [ "progressive visual field defects", "progressive visual field defect" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024760" ], "is_a": [ "HP:0001123" ], "is_obsolete": "", "replace_id": "" }, "HP:0007988": { "name": [ "macular hypopigmentation", "macular hypopigmentation" ], "alt_id": [], "def": "Decreased amount of pigmentation in the macula lutea.", "synonym": [], "xref": [ "UMLS:C4024759" ], "is_a": [ "HP:0008002" ], "is_obsolete": "", "replace_id": "" }, "HP:0007989": { "name": [ "intraretinal exudate", "intraretinal exudate" ], "alt_id": [], "def": "Retinal exudate within the retinal tissue itself.", "synonym": [], "xref": [ "UMLS:C4024758" ], "is_a": [ "HP:0001147" ], "is_obsolete": "", "replace_id": "" }, "HP:0007990": { "name": [ "hypoplastic iris stroma", "hypoplastic iris stroma" ], "alt_id": [ "HP:0007991", "HP:0008027" ], "def": "Underdevelopment of the stroma of iris.", "synonym": [ [ "hypoplastic iris stoma", "hypoplastic iris stoma" ], [ "iris stromal hypoplasia", "iris stromal hypoplasia" ], [ "underdeveloped iris stroma", "underdeveloped iris stroma" ] ], "xref": [ "UMLS:C1860344" ], "is_a": [ "HP:0007676" ], "is_obsolete": "", "replace_id": "" }, "HP:0007992": { "name": [ "lattice retinal degeneration", "lattice retinal degeneration" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:3577000", "UMLS:C0154856" ], "is_a": [ "HP:0007769" ], "is_obsolete": "", "replace_id": "" }, "HP:0007993": { "name": [ "malformed lacrimal duct", "malformed lacrimal duct" ], "alt_id": [], "def": "Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.", "synonym": [ [ "malformed tear ducts", "malformed tear duct" ] ], "xref": [ "UMLS:C4024757" ], "is_a": [ "HP:0011481" ], "is_obsolete": "", "replace_id": "" }, "HP:0007994": { "name": [ "peripheral visual field loss", "peripheral visual field loss" ], "alt_id": [], "def": "Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.", "synonym": [ [ "kalnienk vision", "kalnienk vision" ], [ "loss of peripheral vision", "loss of peripheral vision" ], [ "tunnel vision", "tunnel vision" ] ], "xref": [ "SNOMEDCT_US:420990001", "UMLS:C0241688", "UMLS:C2937228" ], "is_a": [ "HP:0001133" ], "is_obsolete": "", "replace_id": "" }, "HP:0008000": { "name": [ "decreased corneal reflex", "decrease corneal reflex" ], "alt_id": [], "def": "An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.", "synonym": [ [ "decreased blink reflex", "decrease blink reflex" ], [ "reduced corneal reflex", "reduce corneal reflex" ] ], "xref": [ "MSH:D012021", "SNOMEDCT_US:103254005", "UMLS:C0151572" ], "is_a": [ "HP:0000481" ], "is_obsolete": "", "replace_id": "" }, "HP:0008001": { "name": [ "foveal hyperpigmentation", "foveal hyperpigmentation" ], "alt_id": [], "def": "Increased amount of pigmentation in the fovea centralis.", "synonym": [], "xref": [ "UMLS:C3809301" ], "is_a": [ "HP:0030493" ], "is_obsolete": "", "replace_id": "" }, "HP:0008002": { "name": [ "abnormality of macular pigmentation", "abnormality of macular pigmentation" ], "alt_id": [], "def": "Abnormality of macular or foveal pigmentation.", "synonym": [ [ "macular pigmentary changes", "macular pigmentary change" ] ], "xref": [ "UMLS:C1837087", "UMLS:C4024756" ], "is_a": [ "HP:0001103" ], "is_obsolete": "", "replace_id": "" }, "HP:0008003": { "name": [ "jerky ocular pursuit movements", "jerky ocular pursuit movement" ], "alt_id": [ "HP:0007897" ], "def": "", "synonym": [ [ "jerky smooth pursuit", "jerky smooth pursuit" ] ], "xref": [ "UMLS:C1853558" ], "is_a": [ "HP:0000617" ], "is_obsolete": "", "replace_id": "" }, "HP:0008005": { "name": [ "congenital corneal dystrophy", "congenital corneal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1611195" ], "is_a": [ "HP:0001131" ], "is_obsolete": "", "replace_id": "" }, "HP:0008007": { "name": [ "primary congenital glaucoma", "primary congenital glaucoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:415176004", "UMLS:C1533041" ], "is_a": [ "HP:0001087" ], "is_obsolete": "", "replace_id": "" }, "HP:0008008": { "name": [ "obsolete progressive central visual loss", "obsolete progressive central visual loss" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0008009": { "name": [ "three rows of eyelashes", "three row of eyelash" ], "alt_id": [], "def": "", "synonym": [ [ "three rows of eyelashes", "three row of eyelash" ], [ "triple row of eyelashes", "triple row of eyelash" ] ], "xref": [ "UMLS:C1860785" ], "is_a": [ "HP:0008496" ], "is_obsolete": "", "replace_id": "" }, "HP:0008011": { "name": [ "peripheral opacification of the cornea", "peripheral opacification of the cornea" ], "alt_id": [], "def": "Reduced transparency of the peripheral region of the cornea.", "synonym": [ [ "peripheral corneal opacity", "peripheral corneal opacity" ] ], "xref": [ "SNOMEDCT_US:55713007", "UMLS:C0155100" ], "is_a": [ "HP:0007759" ], "is_obsolete": "", "replace_id": "" }, "HP:0008012": { "name": [ "obsolete congenital myopia", "obsolete congenital myopia" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0008014": { "name": [ "central fundal arteriolar microaneurysms", "central fundal arteriolar microaneurysms" ], "alt_id": [], "def": "Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc.", "synonym": [], "xref": [ "UMLS:C4024755" ], "is_a": [ "HP:0032416" ], "is_obsolete": "", "replace_id": "" }, "HP:0008017": { "name": [ "obsolete depigmented lesions of the retinal pigment epithelium", "obsolete depigmented lesion of the retinal pigment epithelium" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0008019": { "name": [ "superior lens subluxation", "superior lens subluxation" ], "alt_id": [], "def": "Partial dislocation of the lens in a superior direction.", "synonym": [ [ "superior subluxated lens", "superior subluxate lens" ] ], "xref": [ "UMLS:C2036843" ], "is_a": [ "HP:0001132" ], "is_obsolete": "", "replace_id": "" }, "HP:0008020": { "name": [ "cone dystrophy", "cone dystrophy" ], "alt_id": [ "HP:0007789" ], "def": "Inherited progressive cone degeneration.", "synonym": [ [ "progressive cone degeneration", "progressive cone degeneration" ], [ "progressive cone dystrophy", "progressive cone dystrophy" ] ], "xref": [ "UMLS:C0730290", "UMLS:C3665342" ], "is_a": [ "HP:0000548" ], "is_obsolete": "", "replace_id": "" }, "HP:0008024": { "name": [ "obsolete congenital nuclear cataract", "obsolete congenital nuclear cataract" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0100018" }, "HP:0008026": { "name": [ "horizontal opticokinetic nystagmus", "horizontal opticokinetic nystagmus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024754" ], "is_a": [ "HP:0000666" ], "is_obsolete": "", "replace_id": "" }, "HP:0008028": { "name": [ "cystoid macular degeneration", "cystoid macular degeneration" ], "alt_id": [ "HP:0007673" ], "def": "A form of macular degeneration characterized by the presence of multiple cysts in the macula.", "synonym": [ [ "cystic macular degeneration", "cystic macular degeneration" ] ], "xref": [ "SNOMEDCT_US:14046000", "UMLS:C0154850" ], "is_a": [ "HP:0000608" ], "is_obsolete": "", "replace_id": "" }, "HP:0008030": { "name": [ "retinal arteritis", "retinal arteritis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:11255009", "UMLS:C0271069" ], "is_a": [ "HP:0000630", "HP:0012089", "HP:0025188" ], "is_obsolete": "", "replace_id": "" }, "HP:0008031": { "name": [ "posterior y - sutural cataract", "posterior y - sutural cataract" ], "alt_id": [], "def": "A type of sutural cataract in which the opacity follows the posterior Y suture.", "synonym": [ [ "posterior y - sutural cataracts", "posterior y - sutural cataract" ] ], "xref": [ "UMLS:C4021560" ], "is_a": [ "HP:0010695" ], "is_obsolete": "", "replace_id": "" }, "HP:0008033": { "name": [ "obsolete congenital exotropia", "obsolete congenital exotropia" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000577" }, "HP:0008034": { "name": [ "abnormal iris pigmentation", "abnormal iris pigmentation" ], "alt_id": [], "def": "Abnormal pigmentation of the iris.", "synonym": [], "xref": [ "UMLS:C1834387" ], "is_a": [ "HP:0000525" ], "is_obsolete": "", "replace_id": "" }, "HP:0008035": { "name": [ "retinitis pigmentosa inversa", "retinitis pigmentosa inversa" ], "alt_id": [ "HP:0008506" ], "def": "Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).", "synonym": [ [ "central retinitis pigmentosa", "central retinitis pigmentosa" ] ], "xref": [ "UMLS:C4021559" ], "is_a": [ "HP:0000546" ], "is_obsolete": "", "replace_id": "" }, "HP:0008036": { "name": [ "obsolete rod - cone dystrophy", "obsolete rod - cone dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0008037": { "name": [ "absent anterior chamber of the eye", "absent anterior chamber of the eye" ], "alt_id": [], "def": "Absence of the anterior chamber of the eye owing to a developmental defect.", "synonym": [], "xref": [ "SNOMEDCT_US:404675003", "SNOMEDCT_US:55457007", "UMLS:C0271004" ], "is_a": [ "HP:0000593" ], "is_obsolete": "", "replace_id": "" }, "HP:0008038": { "name": [ "aplastic / hypoplastic lacrimal glands", "aplastic / hypoplastic lacrimal gland" ], "alt_id": [], "def": "Absence or underdevelopment of the lacrimal gland.", "synonym": [ [ "absent / underdeveloped lacrimal glands", "absent / underdevelop lacrimal gland" ], [ "absent / underdeveloped tear glands", "absent / underdevelop tear gland" ] ], "xref": [ "UMLS:C1835602" ], "is_a": [ "HP:0011482" ], "is_obsolete": "", "replace_id": "" }, "HP:0008039": { "name": [ "subepithelial corneal opacities", "subepithelial corneal opacity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1857307" ], "is_a": [ "HP:0007727" ], "is_obsolete": "", "replace_id": "" }, "HP:0008041": { "name": [ "late onset congenital glaucoma", "late onset congenital glaucoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1856441" ], "is_a": [ "HP:0001087" ], "is_obsolete": "", "replace_id": "" }, "HP:0008043": { "name": [ "retinal arteriolar constriction", "retinal arteriolar constriction" ], "alt_id": [ "HP:0007952", "HP:0008510" ], "def": "Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.", "synonym": [ [ "constricted retinal arterioles", "constrict retinal arteriole" ], [ "narrow retinal arterioles", "narrow retinal arteriole" ], [ "retinal arteriolar narrowing", "retinal arteriolar narrowing" ] ], "xref": [ "UMLS:C2176208" ], "is_a": [ "HP:0000630" ], "is_obsolete": "", "replace_id": "" }, "HP:0008045": { "name": [ "enlarged flash visual evoked potentials", "enlarge flash visual evoke potential" ], "alt_id": [], "def": "", "synonym": [ [ "high flash visual evoked potentials", "high flash visual evoke potential" ] ], "xref": [ "UMLS:C4021558" ], "is_a": [ "HP:0030462" ], "is_obsolete": "", "replace_id": "" }, "HP:0008046": { "name": [ "abnormal retinal vascular morphology", "abnormal retinal vascular morphology" ], "alt_id": [], "def": "A structural abnormality of retinal vasculature.", "synonym": [ [ "abnormality of retina blood vessels", "abnormality of retina blood vessel" ], [ "abnormality of the retinal vasculature", "abnormality of the retinal vasculature" ] ], "xref": [ "UMLS:C4024753" ], "is_a": [ "HP:0000479", "HP:0008047" ], "is_obsolete": "", "replace_id": "" }, "HP:0008047": { "name": [ "abnormality of the vasculature of the eye", "abnormality of the vasculature of the eye" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of eye blood vessels", "abnormality of eye blood vessel" ] ], "xref": [ "UMLS:C4024752" ], "is_a": [ "HP:0002597", "HP:0012372" ], "is_obsolete": "", "replace_id": "" }, "HP:0008048": { "name": [ "abnormality of the line of schwalbe", "abnormality of the line of schwalbe" ], "alt_id": [], "def": "An abnormality of the line of Schwalbe.", "synonym": [], "xref": [ "UMLS:C4021856" ], "is_a": [ "HP:0000481" ], "is_obsolete": "", "replace_id": "" }, "HP:0008049": { "name": [ "abnormality of the extraocular muscles", "abnormality of the extraocular muscle" ], "alt_id": [], "def": "An abnormality of an extraocular muscle.", "synonym": [], "xref": [ "UMLS:C4024751" ], "is_a": [ "HP:0011805", "HP:0030669" ], "is_obsolete": "", "replace_id": "" }, "HP:0008050": { "name": [ "abnormality of the palpebral fissures", "abnormality of the palpebral fissure" ], "alt_id": [], "def": "An anomaly of the space between the medial and lateral canthi of the two open eyelids.", "synonym": [ [ "abnormality of the opening between the eyelids", "abnormality of the opening between the eyelid" ], [ "abnormality of the palpebral fissures", "abnormality of the palpebral fissure" ], [ "deformity of the palpebral fissures", "deformity of the palpebral fissure" ], [ "malformation of the palpebral fissures", "malformation of the palpebral fissure" ] ], "xref": [ "UMLS:C4024750" ], "is_a": [ "HP:0000492" ], "is_obsolete": "", "replace_id": "" }, "HP:0008051": { "name": [ "obsolete abnormality of the retinal pigment epithelium", "obsolete abnormality of the retinal pigment epithelium" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0007703" }, "HP:0008052": { "name": [ "retinal fold", "retinal fold" ], "alt_id": [], "def": "A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.", "synonym": [ [ "retinal folds", "retinal fold" ] ], "xref": [ "SNOMEDCT_US:37480005", "UMLS:C0229197" ], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0008053": { "name": [ "aplasia / hypoplasia of the iris", "aplasia / hypoplasia of the iris" ], "alt_id": [], "def": "Absence or underdevelopment of the iris.", "synonym": [ [ "absent / small iris", "absent / small iris" ], [ "absent / underdeveloped iris", "absent / underdevelop iris" ] ], "xref": [ "UMLS:C4024748" ], "is_a": [ "HP:0000525", "HP:0008055", "HP:0008062" ], "is_obsolete": "", "replace_id": "" }, "HP:0008054": { "name": [ "abnormal morphology of the conjunctival vasculature", "abnormal morphology of the conjunctival vasculature" ], "alt_id": [], "def": "Any abnormality of the blood vessels of the conjunctiva.", "synonym": [ [ "abnormal morphology of the conjunctiva vasculature", "abnormal morphology of the conjunctiva vasculature" ], [ "abnormal vasculature of the conjunctiva morphology", "abnormal vasculature of the conjunctiva morphology" ], [ "abnormality of the vasculature of the conjunctiva", "abnormality of the vasculature of the conjunctiva" ] ], "xref": [ "UMLS:C4024747" ], "is_a": [ "HP:0000502", "HP:0008047" ], "is_obsolete": "", "replace_id": "" }, "HP:0008055": { "name": [ "aplasia / hypoplasia affecting the uvea", "aplasia / hypoplasia affect the uvea" ], "alt_id": [], "def": "Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.", "synonym": [ [ "absent / underdeveloped uvea", "absent / underdevelop uvea" ] ], "xref": [ "UMLS:C4024746" ], "is_a": [ "HP:0000553", "HP:0008056" ], "is_obsolete": "", "replace_id": "" }, "HP:0008056": { "name": [ "aplasia / hypoplasia affecting the eye", "aplasia / hypoplasia affect the eye" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small eye", "absent / small eye" ], [ "absent / underdeveloped eye", "absent / underdevelop eye" ] ], "xref": [ "UMLS:C4024745" ], "is_a": [ "HP:0012372" ], "is_obsolete": "", "replace_id": "" }, "HP:0008057": { "name": [ "aplasia / hypoplasia affecting the fundus", "aplasia / hypoplasia affect the fundus" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small fundus", "absent / small fundus" ] ], "xref": [ "UMLS:C4024744" ], "is_a": [ "HP:0001098", "HP:0008056" ], "is_obsolete": "", "replace_id": "" }, "HP:0008058": { "name": [ "aplasia / hypoplasia of the optic nerve", "aplasia / hypoplasia of the optic nerve" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small optic nerve", "absent / small optic nerve" ], [ "absent / underdeveloped optic nerve", "absent / underdevelop optic nerve" ] ], "xref": [ "UMLS:C4024743" ], "is_a": [ "HP:0000587", "HP:0008057" ], "is_obsolete": "", "replace_id": "" }, "HP:0008059": { "name": [ "aplasia / hypoplasia of the macula", "aplasia / hypoplasia of the macula" ], "alt_id": [], "def": "", "synonym": [ [ "absent / underdeveloped macula", "absent / underdevelop macula" ] ], "xref": [ "UMLS:C4024742" ], "is_a": [ "HP:0001103", "HP:0008061" ], "is_obsolete": "", "replace_id": "" }, "HP:0008060": { "name": [ "aplasia / hypoplasia of the fovea", "aplasia / hypoplasia of the fovea" ], "alt_id": [], "def": "Congenital absence or underdevelopment of the fovea centralis.", "synonym": [ [ "absent / underdeveloped fovea", "absent / underdevelop fovea" ] ], "xref": [ "UMLS:C4024741" ], "is_a": [ "HP:0000493", "HP:0008059" ], "is_obsolete": "", "replace_id": "" }, "HP:0008061": { "name": [ "aplasia / hypoplasia of the retina", "aplasia / hypoplasia of the retina" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small retina", "absent / small retina" ], [ "absent / underdeveloped retina", "absent / underdevelop retina" ] ], "xref": [ "UMLS:C4024740" ], "is_a": [ "HP:0000479", "HP:0008057" ], "is_obsolete": "", "replace_id": "" }, "HP:0008062": { "name": [ "aplasia / hypoplasia affecting the anterior segment of the eye", "aplasia / hypoplasia affect the anterior segment of the eye" ], "alt_id": [], "def": "Absence or underdevelopment of the anterior segment of the eye.", "synonym": [], "xref": [ "UMLS:C4024739" ], "is_a": [ "HP:0007700", "HP:0008056" ], "is_obsolete": "", "replace_id": "" }, "HP:0008063": { "name": [ "aplasia / hypoplasia of the lens", "aplasia / hypoplasia of the lens" ], "alt_id": [], "def": "Absence or underdevelopment of the lens.", "synonym": [ [ "absent / small lens", "absent / small lens" ], [ "absent / underdeveloped lens", "absent / underdevelop lens" ] ], "xref": [ "UMLS:C4024738" ], "is_a": [ "HP:0000517", "HP:0008062" ], "is_obsolete": "", "replace_id": "" }, "HP:0008064": { "name": [ "ichthyosis", "ichthyosis" ], "alt_id": [ "HP:0000955", "HP:0007547" ], "def": "An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.", "synonym": [ [ "hypertrophic ichthyosis", "hypertrophic ichthyosis" ], [ "ichthyosiform abnormality of the skin", "ichthyosiform abnormality of the skin" ], [ "ichthyotic skin", "ichthyotic skin" ] ], "xref": [ "MEDDRA:10021198 \"Ichthyosis\"", "MSH:D007057", "UMLS:C0020757" ], "is_a": [ "HP:0011368" ], "is_obsolete": "", "replace_id": "" }, "HP:0008065": { "name": [ "aplasia / hypoplasia of the skin", "aplasia / hypoplasia of the skin" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small skin", "absent / small skin" ], [ "absent / underdeveloped skin", "absent / underdevelop skin" ] ], "xref": [ "UMLS:C4024737" ], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0008066": { "name": [ "abnormal blistering of the skin", "abnormal blistering of the skin" ], "alt_id": [ "HP:0007467", "HP:0007496", "HP:0200038" ], "def": "The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.", "synonym": [ [ "abnormal blistering of the skin", "abnormal blistering of the skin" ], [ "blister", "blister" ], [ "blistering , generalised", "blistering , generalise" ], [ "blistering , generalized", "blistering , generalize" ], [ "blisters", "blister" ], [ "skin blisters", "skin blister" ], [ "skin bullae", "skin bulla" ] ], "xref": [ "UMLS:C0241054", "UMLS:C2132198", "UMLS:C2220104" ], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0008067": { "name": [ "abnormally lax or hyperextensible skin", "abnormally lax or hyperextensible skin" ], "alt_id": [], "def": "", "synonym": [ [ "abnormally loose or hyperelastic skin", "abnormally loose or hyperelastic skin" ], [ "abnormally loose or stretchable skin", "abnormally loose or stretchable skin" ] ], "xref": [ "UMLS:C4024736" ], "is_a": [ "HP:0010647" ], "is_obsolete": "", "replace_id": "" }, "HP:0008069": { "name": [ "neoplasm of the skin", "neoplasm of the skin" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the skin.", "synonym": [ [ "dermatological tumors", "dermatological tumor" ], [ "dermatological tumours", "dermatological tumour" ], [ "neoplasia of the skin", "neoplasia of the skin" ], [ "skin cancer", "skin cancer" ], [ "skin cancer ( non - melanoma )", "skin cancer ( non - melanoma )" ], [ "skin tumors", "skin tumor" ], [ "skin tumours", "skin tumour" ], [ "tumor of the skin", "tumor of the skin" ], [ "tumour of the skin", "tumour of the skin" ] ], "xref": [ "MSH:D012878", "NCIT:C3262", "SNOMEDCT_US:126488004", "SNOMEDCT_US:372130007", "UMLS:C0007114", "UMLS:C0037286" ], "is_a": [ "HP:0000951", "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0008070": { "name": [ "sparse hair", "sparse hair" ], "alt_id": [ "HP:0001006", "HP:0002237", "HP:0002291", "HP:0002551", "HP:0004522", "HP:0004525", "HP:0004538", "HP:0004874" ], "def": "Reduced density of hairs.", "synonym": [ [ "decreased hair growth", "decrease hair growth" ], [ "decreased hair growth on body", "decrease hair growth on body" ], [ "hypotrichosis", "hypotrichosis" ], [ "marked hypotrichosis", "mark hypotrichosis" ], [ "sparse hair", "sparse hair" ], [ "sparse hair since birth", "sparse hair since birth" ], [ "thin , sparse hair", "thin , sparse hair" ] ], "xref": [ "MEDDRA:10021126", "MSH:D007039", "SNOMEDCT_US:53602002", "SNOMEDCT_US:56558005", "UMLS:C0020678", "UMLS:C1837770", "UMLS:C1860844" ], "is_a": [ "HP:0011362" ], "is_obsolete": "", "replace_id": "" }, "HP:0008071": { "name": [ "maternal hypertension", "maternal hypertension" ], "alt_id": [], "def": "Increased blood pressure during a pregnancy.", "synonym": [], "xref": [ "SNOMEDCT_US:288250001", "UMLS:C0565599" ], "is_a": [ "HP:0100603" ], "is_obsolete": "", "replace_id": "" }, "HP:0008072": { "name": [ "maternal virilization in pregnancy", "maternal virilization in pregnancy" ], "alt_id": [], "def": "Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum.", "synonym": [], "xref": [ "UMLS:C4024735" ], "is_a": [ "HP:0002686" ], "is_obsolete": "", "replace_id": "" }, "HP:0008073": { "name": [ "low maternal serum estriol", "low maternal serum estriol" ], "alt_id": [], "def": "An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age.", "synonym": [ [ "low maternal serum estriol", "low maternal serum estriol" ] ], "xref": [ "UMLS:C4024734" ], "is_a": [ "HP:0011436" ], "is_obsolete": "", "replace_id": "" }, "HP:0008074": { "name": [ "metatarsal periosteal thickening", "metatarsal periosteal thicken" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1834349" ], "is_a": [ "HP:0001832", "HP:0030313" ], "is_obsolete": "", "replace_id": "" }, "HP:0008075": { "name": [ "progressive pes cavus", "progressive pe cavus" ], "alt_id": [], "def": "The development of Pes cavus that is progressive with age.", "synonym": [], "xref": [ "UMLS:C1846017" ], "is_a": [ "HP:0001761" ], "is_obsolete": "", "replace_id": "" }, "HP:0008076": { "name": [ "osteoporotic tarsals", "osteoporotic tarsal" ], "alt_id": [], "def": "Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.", "synonym": [], "xref": [ "UMLS:C1836872" ], "is_a": [ "HP:0009132" ], "is_obsolete": "", "replace_id": "" }, "HP:0008078": { "name": [ "thin metatarsal cortices", "thin metatarsal cortex" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850162" ], "is_a": [ "HP:0001832" ], "is_obsolete": "", "replace_id": "" }, "HP:0008079": { "name": [ "absent fifth metatarsal", "absent fifth metatarsal" ], "alt_id": [ "HP:0010670" ], "def": "A developmental abnormality characterized by the absence of the fifth metatarsal bone.", "synonym": [ [ "absent 5th long bone of foot", "absent 5th long bone of foot" ], [ "absent 5th metatarsals", "absent 5th metatarsal" ], [ "aplasia of the fifth metatarsal bone", "aplasia of the fifth metatarsal bone" ] ], "xref": [ "UMLS:C1867932" ], "is_a": [ "HP:0010744" ], "is_obsolete": "", "replace_id": "" }, "HP:0008080": { "name": [ "hallux varus", "hallux varus" ], "alt_id": [], "def": "Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.", "synonym": [ [ "medially deviated halluces", "medially deviate hallux" ] ], "xref": [ "MSH:D050488", "SNOMEDCT_US:274147008", "UMLS:C0546297" ], "is_a": [ "HP:0010051" ], "is_obsolete": "", "replace_id": "" }, "HP:0008081": { "name": [ "pes valgus", "pe valgus" ], "alt_id": [], "def": "An outward deviation of the foot at the talocalcaneal or subtalar joint.", "synonym": [ [ "valgus foot deformity", "valgus foot deformity" ] ], "xref": [ "SNOMEDCT_US:249803006", "SNOMEDCT_US:275344002", "UMLS:C1578482" ], "is_a": [ "HP:0001760" ], "is_obsolete": "", "replace_id": "" }, "HP:0008082": { "name": [ "medial deviation of the foot", "medial deviation of the foot" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C2673401" ], "is_a": [ "HP:0001760" ], "is_obsolete": "", "replace_id": "" }, "HP:0008083": { "name": [ "2nd - 5th toe middle phalangeal hypoplasia", "2nd - 5th toe middle phalangeal hypoplasia" ], "alt_id": [], "def": "", "synonym": [ [ "underdeveloped 2nd - 5th middle toe bones", "underdeveloped 2nd - 5th middle toe bone" ] ], "xref": [ "UMLS:C1861376" ], "is_a": [ "HP:0003795" ], "is_obsolete": "", "replace_id": "" }, "HP:0008087": { "name": [ "nonossified fifth metatarsal", "nonossified fifth metatarsal" ], "alt_id": [], "def": "The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.", "synonym": [], "xref": [ "UMLS:C1844712" ], "is_a": [ "HP:0008371" ], "is_obsolete": "", "replace_id": "" }, "HP:0008089": { "name": [ "abnormality of the fifth metatarsal bone", "abnormality of the fifth metatarsal bone" ], "alt_id": [], "def": "An anomaly of the fifth metatarsal bone.", "synonym": [ [ "abnormality of the 5th long bone of foot", "abnormality of the 5th long bone of foot" ] ], "xref": [ "UMLS:C4024733" ], "is_a": [ "HP:0001832" ], "is_obsolete": "", "replace_id": "" }, "HP:0008090": { "name": [ "ankylosis of feet small joints", "ankylosis of foot small joint" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024732" ], "is_a": [ "HP:0001760", "HP:0031013" ], "is_obsolete": "", "replace_id": "" }, "HP:0008093": { "name": [ "short 4th toe", "short 4th toe" ], "alt_id": [], "def": "Underdevelopment (hypoplasia) of the fourth toe.", "synonym": [ [ "short 4th toe", "short 4th toe" ], [ "short fourth toe", "short fourth toe" ] ], "xref": [ "UMLS:C1862083" ], "is_a": [ "HP:0001831" ], "is_obsolete": "", "replace_id": "" }, "HP:0008094": { "name": [ "widely spaced toes", "widely space toe" ], "alt_id": [ "HP:0008077" ], "def": "An overall widening of the spaces between the digits.", "synonym": [ [ "widely spaced toes", "widely space toe" ] ], "xref": [ "UMLS:C1969238" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0008095": { "name": [ "osteolysis of talus", "osteolysis of talus" ], "alt_id": [], "def": "Osteolysis affecting the talus.", "synonym": [ [ "osteolysis of tali", "osteolysis of talus" ] ], "xref": [ "UMLS:C4021556" ], "is_a": [ "HP:0008365", "HP:0009134" ], "is_obsolete": "", "replace_id": "" }, "HP:0008096": { "name": [ "medially deviated second toe", "medially deviate second toe" ], "alt_id": [], "def": "Medial deviation of the second toe.", "synonym": [], "xref": [ "UMLS:C1862147" ], "is_a": [ "HP:0010326" ], "is_obsolete": "", "replace_id": "" }, "HP:0008097": { "name": [ "partial fusion of tarsals", "partial fusion of tarsal" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1844520" ], "is_a": [ "HP:0008368" ], "is_obsolete": "", "replace_id": "" }, "HP:0008102": { "name": [ "expanded metatarsals with widened medullary cavities", "expand metatarsal with widened medullary cavity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1969289" ], "is_a": [ "HP:0001832" ], "is_obsolete": "", "replace_id": "" }, "HP:0008103": { "name": [ "delayed tarsal ossification", "delay tarsal ossification" ], "alt_id": [ "HP:0008145" ], "def": "Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.", "synonym": [ [ "delayed ankle bone maturation", "delay ankle bone maturation" ], [ "tarsal delayed ossification", "tarsal delay ossification" ] ], "xref": [ "UMLS:C1846853", "UMLS:C4280418" ], "is_a": [ "HP:0008369" ], "is_obsolete": "", "replace_id": "" }, "HP:0008107": { "name": [ "plantar crease between first and second toes", "plantar crease between first and second toe" ], "alt_id": [], "def": "The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe.", "synonym": [], "xref": [ "UMLS:C1867132" ], "is_a": [ "HP:0001869" ], "is_obsolete": "", "replace_id": "" }, "HP:0008108": { "name": [ "advanced tarsal ossification", "advanced tarsal ossification" ], "alt_id": [ "HP:0008137" ], "def": "Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.", "synonym": [ [ "accelerated ankle bone maturation", "accelerate ankle bone maturation" ], [ "precociously ossified tarsal bones", "precociously ossify tarsal bone" ] ], "xref": [ "UMLS:C1849293", "UMLS:C4280417" ], "is_a": [ "HP:0008369" ], "is_obsolete": "", "replace_id": "" }, "HP:0008110": { "name": [ "equinovarus deformity", "equinovarus deformity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D003025", "SNOMEDCT_US:249808002", "SNOMEDCT_US:397932003", "UMLS:C0009081" ], "is_a": [ "HP:0001760" ], "is_obsolete": "", "replace_id": "" }, "HP:0008111": { "name": [ "broad distal hallux", "broad distal hallux" ], "alt_id": [], "def": "", "synonym": [ [ "broad distal big toe", "broad distal big toe" ] ], "xref": [ "UMLS:C1863403" ], "is_a": [ "HP:0010055" ], "is_obsolete": "", "replace_id": "" }, "HP:0008112": { "name": [ "plantar flexion contractures", "plantar flexion contracture" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1861239" ], "is_a": [ "HP:0008366" ], "is_obsolete": "", "replace_id": "" }, "HP:0008113": { "name": [ "multiple plantar creases", "multiple plantar crease" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1861873" ], "is_a": [ "HP:0100872" ], "is_obsolete": "", "replace_id": "" }, "HP:0008114": { "name": [ "metatarsal diaphyseal endosteal sclerosis", "metatarsal diaphyseal endosteal sclerosis" ], "alt_id": [], "def": "Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.", "synonym": [], "xref": [ "UMLS:C1840420" ], "is_a": [ "HP:0000940", "HP:0001832", "HP:0100925" ], "is_obsolete": "", "replace_id": "" }, "HP:0008115": { "name": [ "clinodactyly of the 3rd toe", "clinodactyly of the 3rd toe" ], "alt_id": [], "def": "Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe).", "synonym": [ [ "3rd toe clinodactyly", "3rd toe clinodactyly" ], [ "curvature of 3rd toe", "curvature of 3rd toe" ] ], "xref": [ "UMLS:C4021555", "UMLS:C4280416" ], "is_a": [ "HP:0001863", "HP:0010332" ], "is_obsolete": "", "replace_id": "" }, "HP:0008116": { "name": [ "flexion limitation of toes", "flexion limitation of toe" ], "alt_id": [], "def": "Limitation of the ability to bend the toes.", "synonym": [], "xref": [ "UMLS:C4024731" ], "is_a": [ "HP:0001436" ], "is_obsolete": "", "replace_id": "" }, "HP:0008117": { "name": [ "shortening of the talar neck", "shortening of the talar neck" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1843985" ], "is_a": [ "HP:0008365" ], "is_obsolete": "", "replace_id": "" }, "HP:0008119": { "name": [ "deformed tarsal bones", "deform tarsal bone" ], "alt_id": [], "def": "", "synonym": [ [ "deformed ankle bones", "deform ankle bone" ] ], "xref": [ "UMLS:C1856746" ], "is_a": [ "HP:0001850" ], "is_obsolete": "", "replace_id": "" }, "HP:0008122": { "name": [ "calcaneonavicular fusion", "calcaneonavicular fusion" ], "alt_id": [], "def": "Synostosis of the calcaneus with the navicular bone.", "synonym": [], "xref": [ "UMLS:C4024730" ], "is_a": [ "HP:0008368" ], "is_obsolete": "", "replace_id": "" }, "HP:0008124": { "name": [ "talipes calcaneovarus", "talipes calcaneovarus" ], "alt_id": [], "def": "A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.", "synonym": [], "xref": [ "MSH:D000070558", "SNOMEDCT_US:30449003", "UMLS:C0265646" ], "is_a": [ "HP:0001883" ], "is_obsolete": "", "replace_id": "" }, "HP:0008125": { "name": [ "second metatarsal posteriorly placed", "second metatarsal posteriorly place" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1859224" ], "is_a": [ "HP:0001832" ], "is_obsolete": "", "replace_id": "" }, "HP:0008127": { "name": [ "bipartite calcaneus", "bipartite calcaneus" ], "alt_id": [ "HP:0008104", "HP:0008130", "HP:0008146" ], "def": "A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.", "synonym": [ [ "delayed coalescence of bipartite calcanei", "delay coalescence of bipartite calcaneus" ], [ "delayed coalescence of calcaneal ossification centers", "delay coalescence of calcaneal ossification center" ], [ "delayed coalescence of calcaneal ossification centres", "delay coalescence of calcaneal ossification centre" ], [ "delayed fusion of bipartite calcanei", "delay fusion of bipartite calcaneus" ], [ "double calcaneal ossification center", "double calcaneal ossification center" ], [ "double calcaneal ossification centre", "double calcaneal ossification centre" ], [ "extra calcaneal ossification center", "extra calcaneal ossification center" ], [ "extra calcaneal ossification centre", "extra calcaneal ossification centre" ] ], "xref": [ "UMLS:C1835574" ], "is_a": [ "HP:0008364" ], "is_obsolete": "", "replace_id": "" }, "HP:0008131": { "name": [ "tarsal stippling", "tarsal stipple" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.", "synonym": [ [ "punctate calcifications of tarsals", "punctate calcification of tarsal" ], [ "punctate tarsal calcification", "punctate tarsal calcification" ] ], "xref": [ "UMLS:C1844848" ], "is_a": [ "HP:0008369", "HP:0010766", "HP:0031051" ], "is_obsolete": "", "replace_id": "" }, "HP:0008132": { "name": [ "medial rotation of the medial malleolus", "medial rotation of the medial malleolus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3805726" ], "is_a": [ "HP:0001760" ], "is_obsolete": "", "replace_id": "" }, "HP:0008133": { "name": [ "distal tapering of metatarsals", "distal tapering of metatarsal" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024729" ], "is_a": [ "HP:0001832" ], "is_obsolete": "", "replace_id": "" }, "HP:0008134": { "name": [ "irregular tarsal ossification", "irregular tarsal ossification" ], "alt_id": [ "HP:0008140" ], "def": "Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.", "synonym": [ [ "irregular ankle bone maturation", "irregular ankle bone maturation" ], [ "irregular tarsal centers", "irregular tarsal center" ], [ "irregular tarsal centres", "irregular tarsal centre" ] ], "xref": [ "UMLS:C4021554", "UMLS:C4280415" ], "is_a": [ "HP:0008369" ], "is_obsolete": "", "replace_id": "" }, "HP:0008138": { "name": [ "equinus calcaneus", "equinus calcaneus" ], "alt_id": [], "def": "Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.", "synonym": [ [ "equinus deformity of the calcaneus", "equinus deformity of the calcaneus" ], [ "hindfoot equinus", "hindfoot equinus" ] ], "xref": [ "UMLS:C1860449" ], "is_a": [ "HP:0008364" ], "is_obsolete": "", "replace_id": "" }, "HP:0008141": { "name": [ "dislocation of toes", "dislocation of toe" ], "alt_id": [], "def": "", "synonym": [ [ "dislocation of toes", "dislocation of toe" ] ], "xref": [ "SNOMEDCT_US:263030002", "UMLS:C0434717" ], "is_a": [ "HP:0001780", "HP:0030311" ], "is_obsolete": "", "replace_id": "" }, "HP:0008142": { "name": [ "delayed calcaneal ossification", "delay calcaneal ossification" ], "alt_id": [], "def": "Delayed maturation and calcification of the calcaneus.", "synonym": [ [ "delayed heel bone maturation", "delay heel bone maturation" ] ], "xref": [ "UMLS:C4024728", "UMLS:C4280414" ], "is_a": [ "HP:0008103", "HP:0008364" ], "is_obsolete": "", "replace_id": "" }, "HP:0008144": { "name": [ "flattening of the talar dome", "flattening of the talar dome" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1843986" ], "is_a": [ "HP:0001850" ], "is_obsolete": "", "replace_id": "" }, "HP:0008148": { "name": [ "impaired epinephrine - induced platelet aggregation", "impaired epinephrine - induced platelet aggregation" ], "alt_id": [], "def": "Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.", "synonym": [], "xref": [ "UMLS:C4024727" ], "is_a": [ "HP:0003540" ], "is_obsolete": "", "replace_id": "" }, "HP:0008150": { "name": [ "elevated serum transaminases during infections", "elevate serum transaminase during infection" ], "alt_id": [], "def": "Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections.", "synonym": [], "xref": [ "UMLS:C1864179" ], "is_a": [ "HP:0002910" ], "is_obsolete": "", "replace_id": "" }, "HP:0008151": { "name": [ "prolonged prothrombin time", "prolong prothrombin time" ], "alt_id": [ "HP:0012201" ], "def": "Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.", "synonym": [ [ "increased inr", "increase inr" ], [ "increased international normalised ratio", "increase international normalised ratio" ], [ "increased international normalized ratio", "increase international normalized ratio" ], [ "low factor ii activity", "low factor ii activity" ], [ "prolonged pt", "prolong pt" ], [ "reduced factor ii activity", "reduce factor ii activity" ], [ "reduced prothrombin activity", "reduce prothrombin activity" ] ], "xref": [ "SNOMEDCT_US:409674002", "UMLS:C0151872" ], "is_a": [ "HP:0032199" ], "is_obsolete": "", "replace_id": "" }, "HP:0008153": { "name": [ "periodic hypokalemic paresis", "periodic hypokalemic paresis" ], "alt_id": [], "def": "Episodes of muscle weakness associated with reduced levels of potassium in the blood.", "synonym": [ [ "hypokalemic periodic paresis", "hypokalemic periodic paresis" ] ], "xref": [ "UMLS:C4021553" ], "is_a": [ "HP:0003768" ], "is_obsolete": "", "replace_id": "" }, "HP:0008155": { "name": [ "mucopolysacchariduria", "mucopolysacchariduria" ], "alt_id": [ "HP:0003567" ], "def": "Excessive amounts of mucopolysaccharide in the urine.", "synonym": [], "xref": [ "UMLS:C4024726" ], "is_a": [ "HP:0003541" ], "is_obsolete": "", "replace_id": "" }, "HP:0008158": { "name": [ "hyperapobetalipoproteinemia", "hyperapobetalipoproteinemia" ], "alt_id": [], "def": "Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein.", "synonym": [], "xref": [ "MSH:D006950", "SNOMEDCT_US:238040008", "SNOMEDCT_US:299465007", "UMLS:C0020474" ], "is_a": [ "HP:0003119" ], "is_obsolete": "", "replace_id": "" }, "HP:0008160": { "name": [ "3 - hydroxydicarboxylic aciduria", "3 - hydroxydicarboxylic aciduria" ], "alt_id": [], "def": "An increase in the level of 3-hydroxydicarboxylic acid in the urine.", "synonym": [], "xref": [ "UMLS:C4024725" ], "is_a": [ "HP:0003215" ], "is_obsolete": "", "replace_id": "" }, "HP:0008161": { "name": [ "absent leukocyte alkaline phosphatase", "absent leukocyte alkaline phosphatase" ], "alt_id": [], "def": "Alkaline phosphatase levels measured within leukocytes is below detectable levels.", "synonym": [ [ "absent leukocyte alp", "absent leukocyte alp" ] ], "xref": [ "UMLS:C4024724" ], "is_a": [ "HP:0004852" ], "is_obsolete": "", "replace_id": "" }, "HP:0008162": { "name": [ "asymptomatic hyperammonemia", "asymptomatic hyperammonemia" ], "alt_id": [], "def": "An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.", "synonym": [ [ "hyperammonemia , asymptomatic", "hyperammonemia , asymptomatic" ] ], "xref": [ "UMLS:C4021552" ], "is_a": [ "HP:0001987" ], "is_obsolete": "", "replace_id": "" }, "HP:0008163": { "name": [ "decreased circulating cortisol level", "decrease circulate cortisol level" ], "alt_id": [ "HP:0000874", "HP:0003291", "HP:0004317", "HP:0008220" ], "def": "Abnormally reduced concentration of cortisol in the blood.", "synonym": [ [ "decreased cortisol production", "decrease cortisol production" ], [ "glucocorticoid insufficiency", "glucocorticoid insufficiency" ], [ "hypocortisolemia", "hypocortisolemia" ], [ "hypocortisolism", "hypocortisolism" ], [ "low blood cortisol level", "low blood cortisol level" ], [ "low to undetectable plasma cortisol", "low to undetectable plasma cortisol" ], [ "plasma cortisol low", "plasma cortisol low" ] ], "xref": [ "UMLS:C1833054", "UMLS:C1836623", "UMLS:C1846225" ], "is_a": [ "HP:0008207", "HP:0011731" ], "is_obsolete": "", "replace_id": "" }, "HP:0008165": { "name": [ "decreased helper t cell proportion", "decrease helper t cell proportion" ], "alt_id": [], "def": "Reduced proportion of helper T cells relative to the total number of T cells.", "synonym": [ [ "decreased proportion circulating t - helper cells", "decrease proportion circulate t - helper cell" ], [ "reduced helper t cell proportion", "reduce helper t cell proportion" ] ], "xref": [ "UMLS:C4024723" ], "is_a": [ "HP:0005403", "HP:0500263" ], "is_obsolete": "", "replace_id": "" }, "HP:0008166": { "name": [ "decreased beta - galactosidase activity", "decrease beta - galactosidase activity" ], "alt_id": [ "HP:0003644", "HP:0008300" ], "def": "Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma.", "synonym": [ [ "beta - galactosidase deficiency in fibroblasts and white blood cells", "beta - galactosidase deficiency in fibroblast and white blood cell" ], [ "beta - galactosidase - 1 deficiency", "beta - galactosidase - 1 deficiency" ], [ "decreased beta galactosidase activity", "decrease beta galactosidase activity" ] ], "xref": [ "MSH:D016537", "SNOMEDCT_US:238025006", "UMLS:C0085131", "UMLS:C1854788", "UMLS:C1856559" ], "is_a": [ "HP:0004342" ], "is_obsolete": "", "replace_id": "" }, "HP:0008167": { "name": [ "very long chain fatty acid accumulation", "very long chain fatty acid accumulation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3279397" ], "is_a": [ "HP:0032243" ], "is_obsolete": "", "replace_id": "" }, "HP:0008169": { "name": [ "reduced factor vii activity", "reduce factor vii activity" ], "alt_id": [], "def": "Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.", "synonym": [ [ "factor vii deficiency", "factor vii deficiency" ] ], "xref": [ "MSH:D005168", "SNOMEDCT_US:37193007", "UMLS:C0015503", "UMLS:C4024722" ], "is_a": [ "HP:0010988" ], "is_obsolete": "", "replace_id": "" }, "HP:0008176": { "name": [ "neonatal unconjugated hyperbilirubinemia", "neonatal unconjugated hyperbilirubinemia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:281611002", "UMLS:C0559506" ], "is_a": [ "HP:0002904" ], "is_obsolete": "", "replace_id": "" }, "HP:0008178": { "name": [ "abnormal cartilage matrix", "abnormal cartilage matrix" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024721" ], "is_a": [ "HP:0002763" ], "is_obsolete": "", "replace_id": "" }, "HP:0008179": { "name": [ "decreased arden ratio of electrooculogram", "decrease arden ratio of electrooculogram" ], "alt_id": [], "def": "An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.", "synonym": [ [ "decreased arden ratio of eog", "decrease arden ratio of eog" ] ], "xref": [ "UMLS:C4024720" ], "is_a": [ "HP:0030454" ], "is_obsolete": "", "replace_id": "" }, "HP:0008180": { "name": [ "mildly elevated creatine kinase", "mildly elevated creatine kinase" ], "alt_id": [ "HP:0003211" ], "def": "", "synonym": [ [ "mildly elevated cpk", "mildly elevate cpk" ], [ "mildly elevated creatine phosphokinase", "mildly elevated creatine phosphokinase" ], [ "mildly elevated serum ck", "mildly elevate serum ck" ], [ "mildly elevated serum cpk", "mildly elevate serum cpk" ], [ "mildly elevated serum phospho - ck", "mildly elevate serum phospho - ck" ], [ "mildly increased creatine kinase", "mildly increased creatine kinase" ], [ "mildly increased serum creatine kinase", "mildly increase serum creatine kinase" ], [ "moderately elevated serum ck", "moderately elevate serum ck" ], [ "moderately elevated serum cpk", "moderately elevate serum cpk" ], [ "moderately increased serum creatine kinase", "moderately increased serum creatine kinase" ] ], "xref": [ "UMLS:C1850309" ], "is_a": [ "HP:0003236" ], "is_obsolete": "", "replace_id": "" }, "HP:0008181": { "name": [ "abetalipoproteinemia", "abetalipoproteinemia" ], "alt_id": [], "def": "An absence of low-density lipoprotein cholesterol in the blood.", "synonym": [], "xref": [ "MSH:D000012", "SNOMEDCT_US:190787008", "UMLS:C0000744" ], "is_a": [ "HP:0003563" ], "is_obsolete": "", "replace_id": "" }, "HP:0008182": { "name": [ "adrenocortical hypoplasia", "adrenocortical hypoplasia" ], "alt_id": [], "def": "", "synonym": [ [ "small adrenal cortex", "small adrenal cortex" ] ], "xref": [ "UMLS:C4024719" ], "is_a": [ "HP:0000849" ], "is_obsolete": "", "replace_id": "" }, "HP:0008185": { "name": [ "precocious puberty in males", "precocious puberty in male" ], "alt_id": [], "def": "The onset of puberty before the age of 9 years in boys.", "synonym": [ [ "early onset of puberty in males", "early onset of puberty in male" ], [ "male precocious puberty", "male precocious puberty" ] ], "xref": [ "UMLS:C1859979" ], "is_a": [ "HP:0000826" ], "is_obsolete": "", "replace_id": "" }, "HP:0008186": { "name": [ "adrenocortical cytomegaly", "adrenocortical cytomegaly" ], "alt_id": [], "def": "The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.", "synonym": [], "xref": [ "UMLS:C1851720" ], "is_a": [ "HP:0011732" ], "is_obsolete": "", "replace_id": "" }, "HP:0008187": { "name": [ "absence of secondary sex characteristics", "absence of secondary sex characteristic" ], "alt_id": [ "HP:0008674" ], "def": "No secondary sexual characteristics are present at puberty.", "synonym": [ [ "no secondary sexual characteristics at puberty", "no secondary sexual characteristic at puberty" ] ], "xref": [ "UMLS:C4021551" ], "is_a": [ "HP:0008373" ], "is_obsolete": "", "replace_id": "" }, "HP:0008188": { "name": [ "thyroid dysgenesis", "thyroid dysgenesis" ], "alt_id": [], "def": "", "synonym": [ [ "thyroid dysplasia", "thyroid dysplasia" ] ], "xref": [ "MSH:D050033", "UMLS:C1563716" ], "is_a": [ "HP:0011772" ], "is_obsolete": "", "replace_id": "" }, "HP:0008189": { "name": [ "insulin insensitivity", "insulin insensitivity" ], "alt_id": [], "def": "Decreased sensitivity toward insulin.", "synonym": [], "xref": [ "UMLS:C1864570" ], "is_a": [ "HP:0011014" ], "is_obsolete": "", "replace_id": "" }, "HP:0008191": { "name": [ "thyroid agenesis", "thyroid agenesis" ], "alt_id": [], "def": "The congenital absence of the thyroid gland.", "synonym": [ [ "athyroidal hypothyroidism", "athyroidal hypothyroidism" ] ], "xref": [ "MSH:D050033", "UMLS:C0749420", "UMLS:C4020805" ], "is_a": [ "HP:0033079" ], "is_obsolete": "", "replace_id": "" }, "HP:0008193": { "name": [ "primary gonadal insufficiency", "primary gonadal insufficiency" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1859014" ], "is_a": [ "HP:0008373" ], "is_obsolete": "", "replace_id": "" }, "HP:0008194": { "name": [ "multiple pancreatic beta - cell adenomas", "multiple pancreatic beta - cell adenoma" ], "alt_id": [], "def": "The presence of multiple pancreatic islet cell adenomas.", "synonym": [], "xref": [ "UMLS:C4024718" ], "is_a": [ "HP:0008261" ], "is_obsolete": "", "replace_id": "" }, "HP:0008197": { "name": [ "absence of pubertal development", "absence of pubertal development" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1846228" ], "is_a": [ "HP:0008373" ], "is_obsolete": "", "replace_id": "" }, "HP:0008198": { "name": [ "congenital hypoparathyroidism", "congenital hypoparathyroidism" ], "alt_id": [ "HP:0008199", "HP:0008201" ], "def": "Deficiency of parathyroid hormone with congenital onset.", "synonym": [ [ "neonatal hypoparathyroidism", "neonatal hypoparathyroidism" ] ], "xref": [ "UMLS:C1455734" ], "is_a": [ "HP:0000829" ], "is_obsolete": "", "replace_id": "" }, "HP:0008200": { "name": [ "primary hyperparathyroidism", "primary hyperparathyroidism" ], "alt_id": [ "HP:0008254" ], "def": "A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.", "synonym": [], "xref": [ "MSH:D049950", "SNOMEDCT_US:36348003", "UMLS:C0221002" ], "is_a": [ "HP:0000843" ], "is_obsolete": "", "replace_id": "" }, "HP:0008202": { "name": [ "reduced circulating prolactin concentration", "reduce circulate prolactin concentration" ], "alt_id": [], "def": "A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.", "synonym": [ [ "prolactin deficiency", "prolactin deficiency" ] ], "xref": [ "MSH:C562708", "SNOMEDCT_US:67873006", "UMLS:C0271586" ], "is_a": [ "HP:0040086" ], "is_obsolete": "", "replace_id": "" }, "HP:0008204": { "name": [ "precocious puberty with sertoli cell tumor", "precocious puberty with sertoli cell tumor" ], "alt_id": [], "def": "", "synonym": [ [ "precocious puberty with sertoli cell tumour", "precocious puberty with sertoli cell tumour" ] ], "xref": [ "UMLS:C1868007" ], "is_a": [ "HP:0000826", "HP:0100619" ], "is_obsolete": "", "replace_id": "" }, "HP:0008205": { "name": [ "insulin - dependent but ketosis - resistant diabetes", "insulin - dependent but ketosis - resistant diabetes" ], "alt_id": [], "def": "Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin.", "synonym": [], "xref": [ "UMLS:C1842404" ], "is_a": [ "HP:0005978" ], "is_obsolete": "", "replace_id": "" }, "HP:0008207": { "name": [ "primary adrenal insufficiency", "primary adrenal insufficiency" ], "alt_id": [ "HP:0000862", "HP:0008219", "HP:0008252" ], "def": "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.", "synonym": [ [ "addison disease", "addison disease" ], [ "addison 's disease", "addison 's disease" ], [ "adrenocortical insufficiency", "adrenocortical insufficiency" ], [ "primary adrenocortical failure", "primary adrenocortical failure" ] ], "xref": [ "MSH:D000224", "SNOMEDCT_US:363732003", "SNOMEDCT_US:373662000", "SNOMEDCT_US:386584007", "UMLS:C0001403", "UMLS:C0405580" ], "is_a": [ "HP:0000846" ], "is_obsolete": "", "replace_id": "" }, "HP:0008208": { "name": [ "parathyroid hyperplasia", "parathyroid hyperplasia" ], "alt_id": [], "def": "Hyperplasia of the parathyroid gland.", "synonym": [ [ "enlarged parathyroid glands", "enlarge parathyroid gland" ] ], "xref": [ "SNOMEDCT_US:9092004", "UMLS:C0271844" ], "is_a": [ "HP:0011766" ], "is_obsolete": "", "replace_id": "" }, "HP:0008209": { "name": [ "premature ovarian insufficiency", "premature ovarian insufficiency" ], "alt_id": [ "HP:0001587", "HP:0100805" ], "def": "Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.", "synonym": [ [ "climacterium praecox", "climacterium praecox" ], [ "early menopause", "early menopause" ], [ "hypergonadotropic amenorrhea", "hypergonadotropic amenorrhea" ], [ "menopause praecox", "menopause praecox" ], [ "premature menopause", "premature menopause" ], [ "premature ovarian failure", "premature ovarian failure" ], [ "primary ovarian insufficiency", "primary ovarian insufficiency" ] ], "xref": [ "MSH:D008594", "MSH:D016649", "SNOMEDCT_US:373717006", "UMLS:C0025322", "UMLS:C0085215" ], "is_a": [ "HP:0031066" ], "is_obsolete": "", "replace_id": "" }, "HP:0008211": { "name": [ "parathyroid agenesis", "parathyroid agenesis" ], "alt_id": [], "def": "Aplasia of the parathyroid gland.", "synonym": [ [ "parathyroid absence", "parathyroid absence" ], [ "parathyroid aplasia", "parathyroid aplasia" ] ], "xref": [ "MSH:C563238", "SNOMEDCT_US:73291005", "UMLS:C1321907" ], "is_a": [ "HP:0011768" ], "is_obsolete": "", "replace_id": "" }, "HP:0008213": { "name": [ "gonadotropin deficiency", "gonadotropin deficiency" ], "alt_id": [ "HP:0008192" ], "def": "A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).", "synonym": [ [ "pituitary gonadotropin deficiency", "pituitary gonadotropin deficiency" ] ], "xref": [ "MSH:D007006", "SNOMEDCT_US:33927004", "UMLS:C0271623" ], "is_a": [ "HP:0000830" ], "is_obsolete": "", "replace_id": "" }, "HP:0008214": { "name": [ "decreased serum estradiol", "decrease serum estradiol" ], "alt_id": [], "def": "A reduction below normal concentration of estradiol in the circulation.", "synonym": [ [ "decreased serum estradiol", "decrease serum estradiol" ] ], "xref": [ "SNOMEDCT_US:166449002", "UMLS:C0241011" ], "is_a": [ "HP:0025133" ], "is_obsolete": "", "replace_id": "" }, "HP:0008216": { "name": [ "adrenal gland dysgenesis", "adrenal gland dysgenesis" ], "alt_id": [], "def": "Abnormal development of the adrenal gland.", "synonym": [ [ "adrenal gland dysplasia", "adrenal gland dysplasia" ], [ "dysplastic adrenal glands", "dysplastic adrenal gland" ] ], "xref": [ "UMLS:C1856017" ], "is_a": [ "HP:0011732" ], "is_obsolete": "", "replace_id": "" }, "HP:0008221": { "name": [ "adrenal hyperplasia", "adrenal hyperplasia" ], "alt_id": [], "def": "Enlargement of the adrenal gland.", "synonym": [ [ "enlarged adrenal glands", "enlarge adrenal gland" ] ], "xref": [ "SNOMEDCT_US:419920004", "UMLS:C1621895" ], "is_a": [ "HP:0011732" ], "is_obsolete": "", "replace_id": "" }, "HP:0008222": { "name": [ "female infertility", "female infertility" ], "alt_id": [], "def": "", "synonym": [ [ "female infertility", "female infertility" ] ], "xref": [ "MSH:D007247", "SNOMEDCT_US:6738008", "UMLS:C0021361" ], "is_a": [ "HP:0000789", "HP:0000868" ], "is_obsolete": "", "replace_id": "" }, "HP:0008223": { "name": [ "compensated hypothyroidism", "compensate hypothyroidism" ], "alt_id": [], "def": "Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).", "synonym": [ [ "mild hypothyroidism", "mild hypothyroidism" ], [ "subclinical hypothyroidism", "subclinical hypothyroidism" ] ], "xref": [ "SNOMEDCT_US:237523006", "UMLS:C0342162" ], "is_a": [ "HP:0000821" ], "is_obsolete": "", "replace_id": "" }, "HP:0008225": { "name": [ "thyroid follicular hyperplasia", "thyroid follicular hyperplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1969546" ], "is_a": [ "HP:0008249" ], "is_obsolete": "", "replace_id": "" }, "HP:0008226": { "name": [ "androgen insufficiency", "androgen insufficiency" ], "alt_id": [], "def": "Insufficient amount of androgenic activity.", "synonym": [ [ "hypoandrogenism", "hypoandrogenism" ] ], "xref": [ "SNOMEDCT_US:38825009", "UMLS:C0342527" ], "is_a": [ "HP:0008373" ], "is_obsolete": "", "replace_id": "" }, "HP:0008227": { "name": [ "pituitary resistance to thyroid hormone", "pituitary resistance to thyroid hormone" ], "alt_id": [], "def": "A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal.", "synonym": [], "xref": [ "SNOMEDCT_US:360348000", "SNOMEDCT_US:360353005", "UMLS:C0342198" ], "is_a": [ "HP:0011747" ], "is_obsolete": "", "replace_id": "" }, "HP:0008229": { "name": [ "thyroid lymphangiectasia", "thyroid lymphangiectasia" ], "alt_id": [ "HP:0008235" ], "def": "The presence of lymphangiectasis of the thyroid gland.", "synonym": [ [ "thyroid lymphangiectasis", "thyroid lymphangiectasis" ] ], "xref": [ "UMLS:C1856129" ], "is_a": [ "HP:0011772", "HP:0031842" ], "is_obsolete": "", "replace_id": "" }, "HP:0008230": { "name": [ "obsolete decreased testosterone in males", "obsolete decrease testosterone in male" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0040171" }, "HP:0008231": { "name": [ "macronodular adrenal hyperplasia", "macronodular adrenal hyperplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:237778003", "UMLS:C0342495" ], "is_a": [ "HP:0008221" ], "is_obsolete": "", "replace_id": "" }, "HP:0008232": { "name": [ "elevated circulating follicle stimulating hormone level", "elevate circulate follicle stimulate hormone level" ], "alt_id": [ "HP:0008324" ], "def": "An elevated concentration of follicle-stimulating hormone in the blood.", "synonym": [ [ "elevated follicle stimulating hormone", "elevate follicle stimulate hormone" ], [ "elevated follicle - stimulating hormone", "elevate follicle - stimulating hormone" ], [ "elevated fsh level", "elevate fsh level" ], [ "elevated plasma follicle stimulating hormone", "elevate plasma follicle stimulate hormone" ], [ "increased circulating follicle stimulating hormone level", "increase circulate follicle stimulate hormone level" ] ], "xref": [ "UMLS:C4021550" ], "is_a": [ "HP:0000837", "HP:0030346" ], "is_obsolete": "", "replace_id": "" }, "HP:0008233": { "name": [ "decreased circulating progesterone", "decrease circulate progesterone" ], "alt_id": [], "def": "An reduced concentration of progesterone in the blood.", "synonym": [ [ "decreased serum progesterone", "decrease serum progesterone" ] ], "xref": [ "UMLS:C1858995" ], "is_a": [ "HP:0031212" ], "is_obsolete": "", "replace_id": "" }, "HP:0008236": { "name": [ "isosexual precocious puberty", "isosexual precocious puberty" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:4294006", "UMLS:C0271528" ], "is_a": [ "HP:0000826" ], "is_obsolete": "", "replace_id": "" }, "HP:0008237": { "name": [ "hypothalamic hypothyroidism", "hypothalamic hypothyroidism" ], "alt_id": [], "def": "A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity.", "synonym": [ [ "tertiary hypothyroidism", "tertiary hypothyroidism" ] ], "xref": [ "SNOMEDCT_US:37429009", "UMLS:C0220998" ], "is_a": [ "HP:0011787", "HP:0012285" ], "is_obsolete": "", "replace_id": "" }, "HP:0008239": { "name": [ "adrenal medullary hypoplasia", "adrenal medullary hypoplasia" ], "alt_id": [], "def": "Developmental hypoplasia of the adrenal medulla.", "synonym": [ [ "small adrenal medulla", "small adrenal medulla" ] ], "xref": [ "UMLS:C4024717" ], "is_a": [ "HP:0000835" ], "is_obsolete": "", "replace_id": "" }, "HP:0008240": { "name": [ "secondary growth hormone deficiency", "secondary growth hormone deficiency" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024716" ], "is_a": [ "HP:0000824" ], "is_obsolete": "", "replace_id": "" }, "HP:0008242": { "name": [ "pseudohypoaldosteronism", "pseudohypoaldosteronism" ], "alt_id": [ "HP:0008228" ], "def": "A state of renal tubular unresponsiveness or resistance to the action of aldosterone.", "synonym": [], "xref": [ "MSH:D011546", "SNOMEDCT_US:77098009", "UMLS:C0033805" ], "is_a": [ "HP:0011733" ], "is_obsolete": "", "replace_id": "" }, "HP:0008244": { "name": [ "congenital adrenal hypoplasia", "congenital adrenal hypoplasia" ], "alt_id": [ "HP:0008246" ], "def": "A type of adrenal hypoplasia with congenital onset.", "synonym": [ [ "congenital adrenal gland hypoplasia", "congenital adrenal gland hypoplasia" ] ], "xref": [ "SNOMEDCT_US:93235007", "UMLS:C0220766" ], "is_a": [ "HP:0000835" ], "is_obsolete": "", "replace_id": "" }, "HP:0008245": { "name": [ "pituitary hypothyroidism", "pituitary hypothyroidism" ], "alt_id": [ "HP:0008248" ], "def": "A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.", "synonym": [ [ "low thyroid gland function due to abnormal pituitary gland", "low thyroid gland function due to abnormal pituitary gland" ], [ "secondary hypothyroidism", "secondary hypothyroidism" ], [ "thyroid stimulating hormone deficiency", "thyroid stimulate hormone deficiency" ], [ "thyrotropin deficiency", "thyrotropin deficiency" ], [ "tsh deficient hypothyroidism", "tsh deficient hypothyroidism" ] ], "xref": [ "SNOMEDCT_US:82598004", "UMLS:C3665349" ], "is_a": [ "HP:0000830", "HP:0011787" ], "is_obsolete": "", "replace_id": "" }, "HP:0008247": { "name": [ "euthyroid hyperthyroxinemia", "euthyroid hyperthyroxinemia" ], "alt_id": [ "HP:0008212" ], "def": "An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease.", "synonym": [ [ "asymptomatic hyperthyroxinemia", "asymptomatic hyperthyroxinemia" ] ], "xref": [ "UMLS:C4021549" ], "is_a": [ "HP:0002926" ], "is_obsolete": "", "replace_id": "" }, "HP:0008249": { "name": [ "thyroid hyperplasia", "thyroid hyperplasia" ], "alt_id": [], "def": "Hyperplasia of the thyroid gland.", "synonym": [ [ "large thyroid", "large thyroid" ] ], "xref": [ "UMLS:C1112776" ], "is_a": [ "HP:0011772" ], "is_obsolete": "", "replace_id": "" }, "HP:0008250": { "name": [ "infantile hypercalcemia", "infantile hypercalcemia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C562999", "SNOMEDCT_US:276645004", "UMLS:C0475732" ], "is_a": [ "HP:0003072" ], "is_obsolete": "", "replace_id": "" }, "HP:0008251": { "name": [ "congenital goiter", "congenital goiter" ], "alt_id": [], "def": "An enlargement of the thyroid gland with congenital onset.", "synonym": [ [ "congenital goitre", "congenital goitre" ] ], "xref": [ "SNOMEDCT_US:276565004", "UMLS:C0349476" ], "is_a": [ "HP:0000853" ], "is_obsolete": "", "replace_id": "" }, "HP:0008255": { "name": [ "transient neonatal diabetes mellitus", "transient neonatal diabetes mellitus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:237603002", "UMLS:C0342273" ], "is_a": [ "HP:0000857" ], "is_obsolete": "", "replace_id": "" }, "HP:0008256": { "name": [ "adrenocortical adenoma", "adrenocortical adenoma" ], "alt_id": [ "HP:0008196" ], "def": "Adrenocortical adenomas are benign tumors of the adrenal cortex.", "synonym": [ [ "adrenocortical adenomas", "adrenocortical adenoma" ] ], "xref": [ "MSH:D018246", "SNOMEDCT_US:18365006", "SNOMEDCT_US:255036008", "SNOMEDCT_US:302826002", "UMLS:C0206667" ], "is_a": [ "HP:0100641" ], "is_obsolete": "", "replace_id": "" }, "HP:0008258": { "name": [ "congenital adrenal hyperplasia", "congenital adrenal hyperplasia" ], "alt_id": [], "def": "A type of adrenal hyperplasia with congenital onset.", "synonym": [], "xref": [ "MSH:D000312", "SNOMEDCT_US:237751000", "UMLS:C0001627" ], "is_a": [ "HP:0008221" ], "is_obsolete": "", "replace_id": "" }, "HP:0008259": { "name": [ "adrenocorticotropin receptor defect", "adrenocorticotropin receptor defect" ], "alt_id": [], "def": "Adrenal insufficiency secondary to a defect in the ACTH receptor.", "synonym": [ [ "acth receptor defect", "acth receptor defect" ], [ "acthr defect", "acthr defect" ], [ "adrenocorticotropic hormone - resistant adrenal insufficiency", "adrenocorticotropic hormone - resistant adrenal insufficiency" ] ], "xref": [ "UMLS:C4021548" ], "is_a": [ "HP:0011734" ], "is_obsolete": "", "replace_id": "" }, "HP:0008261": { "name": [ "pancreatic islet cell adenoma", "pancreatic islet cell adenoma" ], "alt_id": [], "def": "The presence of an adenoma of the pancreas with origin in a pancreatic B cell.", "synonym": [], "xref": [ "UMLS:C1851697" ], "is_a": [ "HP:0002894", "HP:0006476", "HP:0030405" ], "is_obsolete": "", "replace_id": "" }, "HP:0008263": { "name": [ "thyroid defect in oxidation and organification of iodide", "thyroid defect in oxidation and organification of iodide" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1848800" ], "is_a": [ "HP:0002926" ], "is_obsolete": "", "replace_id": "" }, "HP:0008264": { "name": [ "neutrophil inclusion bodies", "neutrophil inclusion body" ], "alt_id": [ "HP:0001932" ], "def": "The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies.", "synonym": [], "xref": [ "UMLS:C4021547" ], "is_a": [ "HP:0011992" ], "is_obsolete": "", "replace_id": "" }, "HP:0008265": { "name": [ "mitochondrial lysine transport defect", "mitochondrial lysine transport defect" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024715" ], "is_a": [ "HP:0003287" ], "is_obsolete": "", "replace_id": "" }, "HP:0008269": { "name": [ "increased red cell hemolysis by shear stress", "increase red cell hemolysis by shear stress" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3806125" ], "is_a": [ "HP:0001878" ], "is_obsolete": "", "replace_id": "" }, "HP:0008271": { "name": [ "abnormal cartilage collagen", "abnormal cartilage collagen" ], "alt_id": [], "def": "Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix.", "synonym": [ [ "abnormal hyaline collagen", "abnormal hyaline collagen" ], [ "abnormal type ii collagen", "abnormal type ii collagen" ] ], "xref": [ "UMLS:C4020803", "UMLS:C4020804", "UMLS:C4021847" ], "is_a": [ "HP:0002763" ], "is_obsolete": "", "replace_id": "" }, "HP:0008272": { "name": [ "renal tubular lysine transport defect", "renal tubular lysine transport defect" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024714" ], "is_a": [ "HP:0000124" ], "is_obsolete": "", "replace_id": "" }, "HP:0008273": { "name": [ "transient aminoaciduria", "transient aminoaciduria" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024713" ], "is_a": [ "HP:0003355" ], "is_obsolete": "", "replace_id": "" }, "HP:0008275": { "name": [ "abnormal light - adapted electroretinogram", "abnormal light - adapt electroretinogram" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal cone - mediated electroretinogram", "abnormal cone - mediate electroretinogram" ] ], "xref": [ "UMLS:C4024712" ], "is_a": [ "HP:0030466" ], "is_obsolete": "", "replace_id": "" }, "HP:0008277": { "name": [ "abnormal blood zinc concentration", "abnormal blood zinc concentration" ], "alt_id": [], "def": "An abnormality of zinc ion homeostasis.", "synonym": [ [ "abnormal zinc metabolism", "abnormal zinc metabolism" ], [ "abnormality of zinc homeostasis", "abnormality of zinc homeostasis" ] ], "xref": [ "UMLS:C4020802", "UMLS:C4024711" ], "is_a": [ "HP:0011030" ], "is_obsolete": "", "replace_id": "" }, "HP:0008278": { "name": [ "cerebellar cortical atrophy", "cerebellar cortical atrophy" ], "alt_id": [], "def": "Atrophy (wasting) of the cerebellar cortex.", "synonym": [ [ "cerebellar cortex degeneration", "cerebellar cortex degeneration" ] ], "xref": [ "UMLS:C4024710" ], "is_a": [ "HP:0001272" ], "is_obsolete": "", "replace_id": "" }, "HP:0008279": { "name": [ "transient hyperlipidemia", "transient hyperlipidemia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850722" ], "is_a": [ "HP:0003077" ], "is_obsolete": "", "replace_id": "" }, "HP:0008281": { "name": [ "acute hyperammonemia", "acute hyperammonemia" ], "alt_id": [], "def": "An increased concentration of ammonia in the blood with sudden onset.", "synonym": [ [ "hyperammonemia , acute", "hyperammonemia , acute" ] ], "xref": [ "UMLS:C1859506" ], "is_a": [ "HP:0001987" ], "is_obsolete": "", "replace_id": "" }, "HP:0008282": { "name": [ "unconjugated hyperbilirubinemia", "unconjugated hyperbilirubinemia" ], "alt_id": [ "HP:0008289" ], "def": "An increased amount of unconjugated (indirect) bilurubin in the blood.", "synonym": [], "xref": [ "SNOMEDCT_US:7752002", "UMLS:C0268306" ], "is_a": [ "HP:0002904" ], "is_obsolete": "", "replace_id": "" }, "HP:0008283": { "name": [ "fasting hyperinsulinemia", "fast hyperinsulinemia" ], "alt_id": [], "def": "An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.", "synonym": [ [ "high blood insulin levels while fasting", "high blood insulin level while fast" ] ], "xref": [ "UMLS:C1864954" ], "is_a": [ "HP:0000842" ], "is_obsolete": "", "replace_id": "" }, "HP:0008285": { "name": [ "transient hypophosphatemia", "transient hypophosphatemia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024709" ], "is_a": [ "HP:0002148" ], "is_obsolete": "", "replace_id": "" }, "HP:0008288": { "name": [ "nonketotic hyperglycinemia", "nonketotic hyperglycinemia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D020158", "SNOMEDCT_US:237939006", "UMLS:C0751748" ], "is_a": [ "HP:0002154" ], "is_obsolete": "", "replace_id": "" }, "HP:0008290": { "name": [ "partial complement factor h deficiency", "partial complement factor h deficiency" ], "alt_id": [], "def": "A partial reduction in level of the complement component Factor H in circulation.", "synonym": [], "xref": [ "UMLS:C4024708" ], "is_a": [ "HP:0005369" ], "is_obsolete": "", "replace_id": "" }, "HP:0008291": { "name": [ "pituitary corticotropic cell adenoma", "pituitary corticotropic cell adenoma" ], "alt_id": [], "def": "A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH).", "synonym": [ [ "acth - producing pituitary adenoma", "acth - produce pituitary adenoma" ], [ "corticotropin - secreting pituitary adenoma", "corticotropin - secrete pituitary adenoma" ] ], "xref": [ "MSH:D049913", "SNOMEDCT_US:21109002", "SNOMEDCT_US:254958004", "UMLS:C1306214" ], "is_a": [ "HP:0002893" ], "is_obsolete": "", "replace_id": "" }, "HP:0008293": { "name": [ "long - chain dicarboxylic aciduria", "long - chain dicarboxylic aciduria" ], "alt_id": [], "def": "An increase in the level of long-chain dicarboxylic acid in the urine.", "synonym": [], "xref": [ "UMLS:C1837273" ], "is_a": [ "HP:0003215" ], "is_obsolete": "", "replace_id": "" }, "HP:0008297": { "name": [ "transient hyperphenylalaninemia", "transient hyperphenylalaninemia" ], "alt_id": [], "def": "A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).", "synonym": [], "xref": [ "SNOMEDCT_US:28575006", "UMLS:C0268464" ], "is_a": [ "HP:0010893" ], "is_obsolete": "", "replace_id": "" }, "HP:0008301": { "name": [ "dermatan sulfate excretion in urine", "dermatan sulfate excretion in urine" ], "alt_id": [], "def": "An increased concentration of dermatan sulfate in the urine.", "synonym": [ [ "dermatan sulphate excretion in urine", "dermatan sulphate excretion in urine" ] ], "xref": [ "UMLS:C1854774" ], "is_a": [ "HP:0008155" ], "is_obsolete": "", "replace_id": "" }, "HP:0008303": { "name": [ "olivary degeneration", "olivary degeneration" ], "alt_id": [], "def": "Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata.", "synonym": [], "xref": [ "UMLS:C4024707" ], "is_a": [ "HP:0011441" ], "is_obsolete": "", "replace_id": "" }, "HP:0008305": { "name": [ "exercise - induced myoglobinuria", "exercise - induced myoglobinuria" ], "alt_id": [ "HP:0008319" ], "def": "Presence of myoglobin in the urine following exercise.", "synonym": [ [ "exercise - induced myoglobinuria in adults", "exercise - induced myoglobinuria in adult" ] ], "xref": [ "UMLS:C1845155", "UMLS:C1860069" ], "is_a": [ "HP:0002913" ], "is_obsolete": "", "replace_id": "" }, "HP:0008306": { "name": [ "abnormal iron deposition in mitochondria", "abnormal iron deposition in mitochondrion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3151556" ], "is_a": [ "HP:0003287" ], "is_obsolete": "", "replace_id": "" }, "HP:0008309": { "name": [ "medium chain dicarboxylic aciduria", "medium chain dicarboxylic aciduria" ], "alt_id": [], "def": "An increase in the level of medium chain dicarboxylic acid in the urine.", "synonym": [], "xref": [ "UMLS:C1860081" ], "is_a": [ "HP:0003215" ], "is_obsolete": "", "replace_id": "" }, "HP:0008311": { "name": [ "spinal cord posterior columns myelin loss", "spinal cord posterior column myelin loss" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024706" ], "is_a": [ "HP:0002143", "HP:0007305" ], "is_obsolete": "", "replace_id": "" }, "HP:0008314": { "name": [ "decreased activity of mitochondrial complex ii", "decreased activity of mitochondrial complex ii" ], "alt_id": [], "def": "A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria.", "synonym": [ [ "respiratory complex ii deficiency", "respiratory complex ii deficiency" ] ], "xref": [ "UMLS:C4020801", "UMLS:C4024705" ], "is_a": [ "HP:0008972" ], "is_obsolete": "", "replace_id": "" }, "HP:0008315": { "name": [ "decreased plasma free carnitine", "decrease plasma free carnitine" ], "alt_id": [], "def": "A decreased concentration of free (unbound) carnitine in the blood.", "synonym": [], "xref": [ "UMLS:C4015009" ], "is_a": [ "HP:0003234" ], "is_obsolete": "", "replace_id": "" }, "HP:0008316": { "name": [ "abnormal mitochondria in muscle tissue", "abnormal mitochondrion in muscle tissue" ], "alt_id": [], "def": "An abnormality of the mitochondria in muscle tissue.", "synonym": [ [ "abnormal mitochondria in muscle", "abnormal mitochondrion in muscle" ] ], "xref": [ "UMLS:C4021546" ], "is_a": [ "HP:0003287", "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0008318": { "name": [ "elevated leukocyte alkaline phosphatase", "elevate leukocyte alkaline phosphatase" ], "alt_id": [], "def": "Increased alkaline phosphatase measured within leukocytes.", "synonym": [ [ "elevated leukocyte alp", "elevate leukocyte alp" ] ], "xref": [ "UMLS:C4024704" ], "is_a": [ "HP:0003155" ], "is_obsolete": "", "replace_id": "" }, "HP:0008320": { "name": [ "impaired collagen - induced platelet aggregation", "impaired collagen - induced platelet aggregation" ], "alt_id": [], "def": "Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.", "synonym": [], "xref": [ "UMLS:C4024703" ], "is_a": [ "HP:0003540" ], "is_obsolete": "", "replace_id": "" }, "HP:0008321": { "name": [ "reduced factor x activity", "reduce factor x activity" ], "alt_id": [], "def": "Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).", "synonym": [ [ "decreased factor x activity", "decrease factor x activity" ], [ "factor x deficiency", "factor x deficiency" ] ], "xref": [ "MSH:D005171", "SNOMEDCT_US:76642003", "UMLS:C0015519", "UMLS:C4024702" ], "is_a": [ "HP:0010990" ], "is_obsolete": "", "replace_id": "" }, "HP:0008322": { "name": [ "abnormal mitochondrial morphology", "abnormal mitochondrial morphology" ], "alt_id": [], "def": "Any structural anomaly of the mitochondria.", "synonym": [ [ "abnormal mitochondrion morphology", "abnormal mitochondrion morphology" ] ], "xref": [ "UMLS:C4014650" ], "is_a": [ "HP:0012103" ], "is_obsolete": "", "replace_id": "" }, "HP:0008323": { "name": [ "abnormal light - and dark - adapted electroretinogram", "abnormal light - and dark - adapt electroretinogram" ], "alt_id": [], "def": "An abnormality of the combined rod-and-cone response on electroretinogram.", "synonym": [ [ "abnormal rod and cone electroretinogram", "abnormal rod and cone electroretinogram" ] ], "xref": [ "UMLS:C3151111" ], "is_a": [ "HP:0030466" ], "is_obsolete": "", "replace_id": "" }, "HP:0008326": { "name": [ "reduced circulating vitamin b6 level", "reduce circulate vitamin b6 level" ], "alt_id": [], "def": "An abnormally decreased concentration of vitamin B6 in the blood circulation.", "synonym": [ [ "reduced vitamin b6 levels", "reduce vitamin b6 level" ], [ "vitamin b6 deficiency", "vitamin b6 deficiency" ] ], "xref": [ "MSH:D026681", "SNOMEDCT_US:386080007", "UMLS:C0936215" ], "is_a": [ "HP:0032476" ], "is_obsolete": "", "replace_id": "" }, "HP:0008327": { "name": [ "microscopic nephrocalcinosis", "microscopic nephrocalcinosis" ], "alt_id": [], "def": "The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma.", "synonym": [], "xref": [ "SNOMEDCT_US:236444003", "UMLS:C0403474" ], "is_a": [ "HP:0000121" ], "is_obsolete": "", "replace_id": "" }, "HP:0008330": { "name": [ "reduced von willebrand factor activity", "reduce von willebrand factor activity" ], "alt_id": [], "def": "Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.", "synonym": [ [ "decreased von willebrand factor activity", "decrease von willebrand factor activity" ] ], "xref": [ "UMLS:C4024701" ], "is_a": [ "HP:0012146" ], "is_obsolete": "", "replace_id": "" }, "HP:0008331": { "name": [ "elevated creatine kinase after exercise", "elevate creatine kinase after exercise" ], "alt_id": [], "def": "", "synonym": [ [ "elevated ck after exercise", "elevate ck after exercise" ], [ "elevated cpk after exercise", "elevate cpk after exercise" ], [ "elevated creatine phosphokinase after exercise", "elevate creatine phosphokinase after exercise" ], [ "elevated phospho - ck after exercise", "elevate phospho - ck after exercise" ], [ "elevated phospho - creatine kinase after exercise", "elevate phospho - creatine kinase after exercise" ], [ "increased ck after exercise", "increase ck after exercise" ], [ "increased creatine kinase after exercise", "increase creatine kinase after exercise" ], [ "increased creatine phosphokinase after exercise", "increase creatine phosphokinase after exercise" ], [ "increased phospho - ck after exercise", "increase phospho - ck after exercise" ], [ "increased phospho - creatine kinase after exercise", "increase phospho - creatine kinase after exercise" ] ], "xref": [ "UMLS:C4024700" ], "is_a": [ "HP:0003236" ], "is_obsolete": "", "replace_id": "" }, "HP:0008335": { "name": [ "obsolete renal aminoaciduria", "obsolete renal aminoaciduria" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D000608", "UMLS:C0002534" ], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0003355" }, "HP:0008336": { "name": [ "complex organic aciduria", "complex organic aciduria" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3151953" ], "is_a": [ "HP:0001992" ], "is_obsolete": "", "replace_id": "" }, "HP:0008338": { "name": [ "partial functional complement factor d deficiency", "partial functional complement factor d deficiency" ], "alt_id": [], "def": "A partial reduction in level of the complement component Factor D in circulation.", "synonym": [ [ "partial functional adipsin deficiency", "partial functional adipsin deficiency" ], [ "partial functional factor d deficiency", "partial functional factor d deficiency" ] ], "xref": [ "UMLS:C4024699" ], "is_a": [ "HP:0004431" ], "is_obsolete": "", "replace_id": "" }, "HP:0008339": { "name": [ "diaminoaciduria", "diaminoaciduria" ], "alt_id": [], "def": "An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine).", "synonym": [], "xref": [ "UMLS:C4024698" ], "is_a": [ "HP:0033100" ], "is_obsolete": "", "replace_id": "" }, "HP:0008341": { "name": [ "distal renal tubular acidosis", "distal renal tubular acidosis" ], "alt_id": [], "def": "A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia.", "synonym": [ [ "renal tubular acidosis , type i", "renal tubular acidosis , type i" ] ], "xref": [ "MSH:D000141", "SNOMEDCT_US:236461000", "SNOMEDCT_US:86210009", "UMLS:C1704380" ], "is_a": [ "HP:0001947" ], "is_obsolete": "", "replace_id": "" }, "HP:0008344": { "name": [ "elevated plasma branched chain amino acids", "elevate plasma branch chain amino acid" ], "alt_id": [], "def": "An increased concentration of a branched chain amino acid in the blood.", "synonym": [], "xref": [ "UMLS:C4024697" ], "is_a": [ "HP:0010892" ], "is_obsolete": "", "replace_id": "" }, "HP:0008345": { "name": [ "hypoplasia of the iris dilator muscle", "hypoplasia of the iris dilator muscle" ], "alt_id": [], "def": "Underdevelopment of the dilatator pupillae.", "synonym": [ [ "hypoplasia of the pupil dilator muscle", "hypoplasia of the pupil dilator muscle" ], [ "underdeveloped iris dilator muscle", "underdeveloped iris dilator muscle" ], [ "underdeveloped pupil dilator muscle", "underdeveloped pupil dilator muscle" ] ], "xref": [ "UMLS:C4024696" ], "is_a": [ "HP:0007676" ], "is_obsolete": "", "replace_id": "" }, "HP:0008346": { "name": [ "increased red cell sickling tendency", "increase red cell sickling tendency" ], "alt_id": [], "def": "", "synonym": [ [ "increased sickling of erythrocytes", "increase sickling of erythrocyte" ], [ "increased sickling of red cells", "increase sickling of red cell" ] ], "xref": [ "UMLS:C4024695" ], "is_a": [ "HP:0011895" ], "is_obsolete": "", "replace_id": "" }, "HP:0008347": { "name": [ "decreased activity of mitochondrial complex iv", "decreased activity of mitochondrial complex iv" ], "alt_id": [], "def": "A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.", "synonym": [ [ "respiratory complex iv deficiency", "respiratory complex iv deficiency" ] ], "xref": [ "UMLS:C4020800" ], "is_a": [ "HP:0008972" ], "is_obsolete": "", "replace_id": "" }, "HP:0008348": { "name": [ "decreased circulating igg2 level", "decrease circulate igg2 level" ], "alt_id": [ "HP:0008310" ], "def": "A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.", "synonym": [ [ "decreased igg2 level in blood", "decrease igg2 level in blood" ], [ "immunoglobulin igg2 deficiency", "immunoglobulin igg2 deficiency" ], [ "reduced igg2 levels", "reduce igg2 level" ] ], "xref": [ "UMLS:C4021545" ], "is_a": [ "HP:0032135" ], "is_obsolete": "", "replace_id": "" }, "HP:0008352": { "name": [ "impaired platelet adhesion", "impaired platelet adhesion" ], "alt_id": [], "def": "An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation.", "synonym": [ [ "impaired thrombocytes adhesion", "impaired thrombocyte adhesion" ] ], "xref": [ "UMLS:C4024694" ], "is_a": [ "HP:0011869" ], "is_obsolete": "", "replace_id": "" }, "HP:0008353": { "name": [ "neutral hyperaminoaciduria", "neutral hyperaminoaciduria" ], "alt_id": [], "def": "The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.", "synonym": [], "xref": [ "UMLS:C1856194" ], "is_a": [ "HP:0033100" ], "is_obsolete": "", "replace_id": "" }, "HP:0008354": { "name": [ "factor x activation deficiency", "factor x activation deficiency" ], "alt_id": [], "def": "Reduced ability to transform factor X into its activated form factor Xa.", "synonym": [], "xref": [ "UMLS:C4024693" ], "is_a": [ "HP:0008321" ], "is_obsolete": "", "replace_id": "" }, "HP:0008356": { "name": [ "obsolete combined hyperlipidemia", "obsolete combine hyperlipidemia" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0008357": { "name": [ "reduced factor xiii activity", "reduce factor xiii activity" ], "alt_id": [], "def": "Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.", "synonym": [], "xref": [ "UMLS:C4024692" ], "is_a": [ "HP:0010990" ], "is_obsolete": "", "replace_id": "" }, "HP:0008358": { "name": [ "hyperprolinemia", "hyperprolinemia" ], "alt_id": [], "def": "An increased concentration of proline in the blood.", "synonym": [ [ "prolinemia", "prolinemia" ] ], "xref": [ "SNOMEDCT_US:59655002", "UMLS:C0268528" ], "is_a": [ "HP:0010907" ], "is_obsolete": "", "replace_id": "" }, "HP:0008360": { "name": [ "neonatal hypoproteinemia", "neonatal hypoproteinemia" ], "alt_id": [], "def": "A neonatal decreased concentration of proteins in the blood.", "synonym": [], "xref": [ "UMLS:C4024691" ], "is_a": [ "HP:0003075" ], "is_obsolete": "", "replace_id": "" }, "HP:0008361": { "name": [ "corticospinal tract pallor", "corticospinal tract pallor" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024690" ], "is_a": [ "HP:0002492" ], "is_obsolete": "", "replace_id": "" }, "HP:0008362": { "name": [ "aplasia / hypoplasia of the hallux", "aplasia / hypoplasia of the hallux" ], "alt_id": [ "HP:0004694", "HP:0008118", "HP:0008126" ], "def": "Absence or underdevelopment of the big toe.", "synonym": [ [ "absent / small big toe", "absent / small big toe" ], [ "absent / underdeveloped big toe", "absent / underdevelop big toe" ], [ "aplastic / hypoplastic halluces", "aplastic / hypoplastic hallux" ] ], "xref": [ "UMLS:C1836213" ], "is_a": [ "HP:0001844", "HP:0010760" ], "is_obsolete": "", "replace_id": "" }, "HP:0008363": { "name": [ "aplasia / hypoplasia of the tarsal bones", "aplasia / hypoplasia of the tarsal bone" ], "alt_id": [ "HP:0008109" ], "def": "Absence or underdevelopment of the tarsal bones.", "synonym": [ [ "absent / small ankle bone", "absent / small ankle bone" ], [ "absent / underdeveloped ankle bone", "absent / underdevelop ankle bone" ], [ "aplastic / hypoplastic tarsals", "aplastic / hypoplastic tarsal" ] ], "xref": [ "UMLS:C1848671" ], "is_a": [ "HP:0001850", "HP:0006494" ], "is_obsolete": "", "replace_id": "" }, "HP:0008364": { "name": [ "abnormality of the calcaneus", "abnormality of the calcaneus" ], "alt_id": [], "def": "An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.", "synonym": [ [ "abnormal heel bone", "abnormal heel bone" ] ], "xref": [ "UMLS:C4024689" ], "is_a": [ "HP:0001850" ], "is_obsolete": "", "replace_id": "" }, "HP:0008365": { "name": [ "abnormal talus morphology", "abnormal talus morphology" ], "alt_id": [], "def": "An abnormality of the talus.", "synonym": [ [ "abnormal large bone of ankle", "abnormal large bone of ankle" ] ], "xref": [ "UMLS:C4024688" ], "is_a": [ "HP:0001850" ], "is_obsolete": "", "replace_id": "" }, "HP:0008366": { "name": [ "contractures involving the joints of the feet", "contracture involve the joint of the foot" ], "alt_id": [], "def": "", "synonym": [ [ "contractures of the foot joints", "contracture of the foot joint" ] ], "xref": [ "SNOMEDCT_US:239742004", "UMLS:C0343149" ], "is_a": [ "HP:0001760", "HP:0005750" ], "is_obsolete": "", "replace_id": "" }, "HP:0008368": { "name": [ "tarsal synostosis", "tarsal synostosis" ], "alt_id": [ "HP:0001851", "HP:0001957", "HP:0008092", "HP:0100330" ], "def": "Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).", "synonym": [ [ "fused ankle bones", "fuse ankle bone" ], [ "synostosis involving tarsal bones", "synostosis involve tarsal bone" ], [ "synostosis of tarsal bones", "synostosis of tarsal bone" ], [ "tarsal bone fusion", "tarsal bone fusion" ], [ "tarsal bone synostosis", "tarsal bone synostosis" ], [ "tarsal fusion", "tarsal fusion" ], [ "tarsal fusions", "tarsal fusion" ] ], "xref": [ "MSH:D000070604", "SNOMEDCT_US:27173008", "UMLS:C0265654" ], "is_a": [ "HP:0001850", "HP:0009140", "HP:0100266" ], "is_obsolete": "", "replace_id": "" }, "HP:0008369": { "name": [ "abnormal tarsal ossification", "abnormal tarsal ossification" ], "alt_id": [], "def": "An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.", "synonym": [ [ "abnormal maturation of ankle bones", "abnormal maturation of ankle bone" ], [ "abnormal ossification of tarsal bones", "abnormal ossification of tarsal bone" ], [ "hardening of ankle bones", "hardening of ankle bone" ] ], "xref": [ "UMLS:C4021544", "UMLS:C4025075" ], "is_a": [ "HP:0001850", "HP:0010675" ], "is_obsolete": "", "replace_id": "" }, "HP:0008371": { "name": [ "abnormal metatarsal ossification", "abnormal metatarsal ossification" ], "alt_id": [], "def": "Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years.", "synonym": [ [ "abnormal maturation of long bone of foot", "abnormal maturation of long bone of foot" ], [ "abnormal ossification involving metatarsal bones", "abnormal ossification involve metatarsal bone" ] ], "xref": [ "UMLS:C4021543" ], "is_a": [ "HP:0001832", "HP:0010675" ], "is_obsolete": "", "replace_id": "" }, "HP:0008372": { "name": [ "abnormality of vitamin a metabolism", "abnormality of vitamin a metabolism" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024686" ], "is_a": [ "HP:0100508" ], "is_obsolete": "", "replace_id": "" }, "HP:0008373": { "name": [ "puberty and gonadal disorders", "puberty and gonadal disorder" ], "alt_id": [ "HP:0000827" ], "def": "", "synonym": [ [ "puberty and gonadal disorders", "puberty and gonadal disorder" ] ], "xref": [ "UMLS:C4024685" ], "is_a": [ "HP:0000818" ], "is_obsolete": "", "replace_id": "" }, "HP:0008376": { "name": [ "nasal , dysarthic speech", "nasal , dysarthic speech" ], "alt_id": [], "def": "", "synonym": [ [ "breathy speech", "breathy speech" ] ], "xref": [ "UMLS:C1834664" ], "is_a": [ "HP:0001260" ], "is_obsolete": "", "replace_id": "" }, "HP:0008383": { "name": [ "slow - growing nails", "slow - grow nail" ], "alt_id": [ "HP:0008411" ], "def": "Nails whose growth is slower than normal.", "synonym": [ [ "slow - growing nails", "slow - grow nail" ] ], "xref": [ "UMLS:C1835238" ], "is_a": [ "HP:0030807" ], "is_obsolete": "", "replace_id": "" }, "HP:0008386": { "name": [ "aplasia / hypoplasia of the nails", "aplasia / hypoplasia of the nail" ], "alt_id": [ "HP:0008385" ], "def": "Aplasia or developmental hypoplasia of the nail.", "synonym": [ [ "absent / hypoplastic nails", "absent / hypoplastic nail" ], [ "absent / small nails", "absent / small nail" ], [ "absent / underdeveloped nails", "absent / underdevelop nail" ], [ "nail aplasia / hypoplasia", "nail aplasia / hypoplasia" ] ], "xref": [ "UMLS:C1859077" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0008388": { "name": [ "abnormal toenail morphology", "abnormal toenail morphology" ], "alt_id": [], "def": "An anomaly of the toenail.", "synonym": [ [ "abnormality of the toenail", "abnormality of the toenail" ], [ "abnormality of the toenails", "abnormality of the toenail" ] ], "xref": [ "SNOMEDCT_US:700189007", "UMLS:C3839753" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0008390": { "name": [ "recurrent loss of toenails and fingernails", "recurrent loss of toenail and fingernail" ], "alt_id": [], "def": "Repeated loss, or shedding, of the nails of the fingers and toes.", "synonym": [ [ "recurrent loss of toenails and fingernails", "recurrent loss of toenail and fingernail" ], [ "recurrent shedding of toenails and fingernails", "recurrent shed of toenail and fingernail" ] ], "xref": [ "UMLS:C4021542" ], "is_a": [ "HP:0001806" ], "is_obsolete": "", "replace_id": "" }, "HP:0008391": { "name": [ "dystrophic fingernails", "dystrophic fingernail" ], "alt_id": [], "def": "The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.", "synonym": [ [ "poor fingernail formation", "poor fingernail formation" ] ], "xref": [ "UMLS:C3551426" ], "is_a": [ "HP:0001231", "HP:0008404" ], "is_obsolete": "", "replace_id": "" }, "HP:0008392": { "name": [ "subungual hyperkeratosis", "subungual hyperkeratosis" ], "alt_id": [], "def": "A thickening of the stratum corneum in the region beneath the nails.", "synonym": [ [ "thickened , discolored skin under nail", "thicken , discolor skin under nail" ], [ "thickened , discoloured skin under nail", "thicken , discolour skin under nail" ] ], "xref": [ "SNOMEDCT_US:10165000", "UMLS:C0038605" ], "is_a": [ "HP:0000962", "HP:0009723" ], "is_obsolete": "", "replace_id": "" }, "HP:0008393": { "name": [ "congenital curved nail of fourth toe", "congenital curve nail of fourth toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024684" ], "is_a": [ "HP:0008388" ], "is_obsolete": "", "replace_id": "" }, "HP:0008394": { "name": [ "congenital onychodystrophy", "congenital onychodystrophy" ], "alt_id": [], "def": "", "synonym": [ [ "congenital malformed nails", "congenital malformed nail" ] ], "xref": [ "UMLS:C1393669", "UMLS:C4280413" ], "is_a": [ "HP:0002164" ], "is_obsolete": "", "replace_id": "" }, "HP:0008396": { "name": [ "chronic monilial nail infection", "chronic monilial nail infection" ], "alt_id": [], "def": "Chronic infection of the nails by Candida species.", "synonym": [], "xref": [ "UMLS:C4024683" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0008398": { "name": [ "hypoplastic fifth fingernail", "hypoplastic fifth fingernail" ], "alt_id": [ "HP:0200103" ], "def": "A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.", "synonym": [ [ "underdeveloped fifth fingernail", "underdeveloped fifth fingernail" ], [ "underdeveloped fingernail of little finger", "underdeveloped fingernail of little finger" ], [ "underdeveloped fingernail of pinkie finger", "underdeveloped fingernail of pinkie finger" ], [ "underdeveloped fingernail of pinky finger", "underdeveloped fingernail of pinky finger" ] ], "xref": [ "UMLS:C4024682" ], "is_a": [ "HP:0001804" ], "is_obsolete": "", "replace_id": "" }, "HP:0008399": { "name": [ "circumungual hyperkeratosis", "circumungual hyperkeratosis" ], "alt_id": [], "def": "A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails.", "synonym": [ [ "thick skin around nails", "thick skin around nail" ] ], "xref": [ "UMLS:C4024681" ], "is_a": [ "HP:0000962", "HP:0100803" ], "is_obsolete": "", "replace_id": "" }, "HP:0008400": { "name": [ "onycholysis of distal fingernails", "onycholysis of distal fingernail" ], "alt_id": [], "def": "Detachment of the distal fingernails from the nail bed.", "synonym": [ [ "detachment of outermost fingernails", "detachment of outermost fingernail" ] ], "xref": [ "UMLS:C4024680" ], "is_a": [ "HP:0040039" ], "is_obsolete": "", "replace_id": "" }, "HP:0008401": { "name": [ "onychogryposis of toenails", "onychogryposis of toenail" ], "alt_id": [ "HP:0008395", "HP:0008405" ], "def": "Thickened toenails.", "synonym": [ [ "overgrowth and curving of toenails", "overgrowth and curving of toenail" ] ], "xref": [ "UMLS:C4024679" ], "is_a": [ "HP:0001805" ], "is_obsolete": "", "replace_id": "" }, "HP:0008402": { "name": [ "ridged fingernail", "ridge fingernail" ], "alt_id": [], "def": "Longitudinal, linear prominences in the fingernail plate.", "synonym": [ [ "longitudinally grooved fingernails", "longitudinally groove fingernail" ], [ "ridged fingernail", "ridge fingernail" ], [ "ridged fingernails", "ridge fingernail" ] ], "xref": [ "UMLS:C1849392" ], "is_a": [ "HP:0001231" ], "is_obsolete": "", "replace_id": "" }, "HP:0008404": { "name": [ "nail dystrophy", "nail dystrophy" ], "alt_id": [ "HP:0008382", "HP:0008397", "HP:0008408" ], "def": "Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.", "synonym": [ [ "dystrophic nails", "dystrophic nail" ], [ "onychodystrophy", "onychodystrophy" ], [ "poor nail formation", "poor nail formation" ] ], "xref": [ "MEDDRA:10028698 \"Nail dystrophy\"", "SNOMEDCT_US:87065009", "UMLS:C0221260" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0008407": { "name": [ "hyperconvex thumb nails", "hyperconvex thumb nail" ], "alt_id": [], "def": "", "synonym": [ [ "tightly curved thumb nail", "tightly curve thumb nail" ] ], "xref": [ "UMLS:C1855290" ], "is_a": [ "HP:0001795" ], "is_obsolete": "", "replace_id": "" }, "HP:0008410": { "name": [ "subungual hyperkeratotic fragments", "subungual hyperkeratotic fragment" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1852311" ], "is_a": [ "HP:0000962", "HP:0009723" ], "is_obsolete": "", "replace_id": "" }, "HP:0008414": { "name": [ "lumbar kyphosis in infancy", "lumbar kyphosis in infancy" ], "alt_id": [], "def": "", "synonym": [ [ "hunched back in infancy", "hunch back in infancy" ], [ "round back in infancy", "round back in infancy" ] ], "xref": [ "UMLS:C1863423" ], "is_a": [ "HP:0008454" ], "is_obsolete": "", "replace_id": "" }, "HP:0008416": { "name": [ "six lumbar vertebrae", "six lumbar vertebra" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1839279" ], "is_a": [ "HP:0002946" ], "is_obsolete": "", "replace_id": "" }, "HP:0008417": { "name": [ "vertebral hypoplasia", "vertebral hypoplasia" ], "alt_id": [ "HP:0008431" ], "def": "Small, underdeveloped vertebral bodies.", "synonym": [ [ "underdeveloped vertebrae", "underdeveloped vertebra" ] ], "xref": [ "SNOMEDCT_US:205456006", "UMLS:C0345394" ], "is_a": [ "HP:0008515" ], "is_obsolete": "", "replace_id": "" }, "HP:0008418": { "name": [ "squared - off platyspondyly", "square - off platyspondyly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1849051" ], "is_a": [ "HP:0000926" ], "is_obsolete": "", "replace_id": "" }, "HP:0008419": { "name": [ "intervertebral disc degeneration", "intervertebral disc degeneration" ], "alt_id": [], "def": "The presence of degenerative changes of intervertebral disk.", "synonym": [ [ "degeneration of intervertebral discs", "degeneration of intervertebral disc" ], [ "degeneration of intervertebral disks", "degeneration of intervertebral disk" ], [ "degenerative disc disease", "degenerative disc disease" ], [ "degenerative intervertebral disc", "degenerative intervertebral disc" ], [ "degenerative intervertebral disk", "degenerative intervertebral disk" ] ], "xref": [ "MSH:D055959", "SNOMEDCT_US:77547008", "UMLS:C0158266" ], "is_a": [ "HP:0005108" ], "is_obsolete": "", "replace_id": "" }, "HP:0008420": { "name": [ "punctate vertebral calcifications", "punctate vertebral calcification" ], "alt_id": [], "def": "The presence of punctiform calcification of the bone of the vertebral bodies.", "synonym": [], "xref": [ "UMLS:C4024678" ], "is_a": [ "HP:0003468" ], "is_obsolete": "", "replace_id": "" }, "HP:0008421": { "name": [ "tall lumbar vertebral bodies", "tall lumbar vertebral body" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1863313" ], "is_a": [ "HP:0004570" ], "is_obsolete": "", "replace_id": "" }, "HP:0008422": { "name": [ "vertebral wedging", "vertebral wedging" ], "alt_id": [], "def": "An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.", "synonym": [ [ "anterior wedging", "anterior wedge" ], [ "wedge - shaped vertebrae", "wedge - shape vertebra" ], [ "wedged vertebrae", "wedge vertebra" ] ], "xref": [ "UMLS:C1695776" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0008423": { "name": [ "spinal dysplasia", "spinal dysplasia" ], "alt_id": [], "def": "The presence of developmental dysplasia of the vertebral column.", "synonym": [], "xref": [ "UMLS:C4021853" ], "is_a": [ "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0008424": { "name": [ "hypoplastic 5th lumbar vertebrae", "hypoplastic 5th lumbar vertebra" ], "alt_id": [], "def": "", "synonym": [ [ "underdeveloped 5th lumbar vertebrae", "underdeveloped 5th lumbar vertebra" ] ], "xref": [ "UMLS:C1859366" ], "is_a": [ "HP:0008417" ], "is_obsolete": "", "replace_id": "" }, "HP:0008425": { "name": [ "cuboid - shaped thoracolumbar vertebral bodies", "cuboid - shaped thoracolumbar vertebral body" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1855289" ], "is_a": [ "HP:0004634" ], "is_obsolete": "", "replace_id": "" }, "HP:0008428": { "name": [ "vertebral clefting", "vertebral clefting" ], "alt_id": [ "HP:0000942" ], "def": "Schisis (cleft or cleavage) of vertebral bodies.", "synonym": [ [ "vertebral clefts", "vertebral cleft" ] ], "xref": [ "UMLS:C1855828" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0008430": { "name": [ "anterior beaking of lumbar vertebrae", "anterior beaking of lumbar vertebra" ], "alt_id": [ "HP:0005664" ], "def": "Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.", "synonym": [ [ "anterior tongue - like protrusion of lumbar vertebral bodies", "anterior tongue - like protrusion of lumbar vertebral body" ] ], "xref": [ "UMLS:C4021541" ], "is_a": [ "HP:0004568" ], "is_obsolete": "", "replace_id": "" }, "HP:0008432": { "name": [ "anterior wedging of l1", "anterior wedging of l1" ], "alt_id": [], "def": "An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front).", "synonym": [], "xref": [ "UMLS:C4024677" ], "is_a": [ "HP:0008422" ], "is_obsolete": "", "replace_id": "" }, "HP:0008433": { "name": [ "reversed usual vertebral column curves", "reverse usual vertebral column curve" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024676" ], "is_a": [ "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0008434": { "name": [ "hypoplastic cervical vertebrae", "hypoplastic cervical vertebra" ], "alt_id": [ "HP:0008415" ], "def": "", "synonym": [ [ "cervical vertebrae hypoplasia", "cervical vertebra hypoplasia" ], [ "underdeveloped cervical vertebrae", "underdeveloped cervical vertebra" ] ], "xref": [ "UMLS:C1835570" ], "is_a": [ "HP:0008417", "HP:0011041" ], "is_obsolete": "", "replace_id": "" }, "HP:0008435": { "name": [ "absent in utero ossification of vertebral bodies", "absent in utero ossification of vertebral body" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1842698" ], "is_a": [ "HP:0004606" ], "is_obsolete": "", "replace_id": "" }, "HP:0008436": { "name": [ "absent / hypoplastic coccyx", "absent / hypoplastic coccyx" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small tailbone", "absent / small tailbone" ], [ "absent / underdeveloped tailbone", "absent / underdevelop tailbone" ] ], "xref": [ "UMLS:C1856644" ], "is_a": [ "HP:0008517" ], "is_obsolete": "", "replace_id": "" }, "HP:0008437": { "name": [ "bifid thoracic vertebrae", "bifid thoracic vertebra" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C2751478" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0008438": { "name": [ "vertebral arch anomaly", "vertebral arch anomaly" ], "alt_id": [], "def": "A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.", "synonym": [ [ "vertebral arch abnormalities", "vertebral arch abnormality" ] ], "xref": [ "UMLS:C1835764" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0008439": { "name": [ "lumbar hemivertebrae", "lumbar hemivertebrae" ], "alt_id": [], "def": "Absence of one half of the vertebral body in the lumbar spine.", "synonym": [], "xref": [ "SNOMEDCT_US:93167001", "UMLS:C0432149" ], "is_a": [ "HP:0002937" ], "is_obsolete": "", "replace_id": "" }, "HP:0008440": { "name": [ "c1 - c2 vertebral abnormality", "c1 - c2 vertebral abnormality" ], "alt_id": [], "def": "Any abnormality of the atlas and the axis.", "synonym": [], "xref": [ "UMLS:C4024675" ], "is_a": [ "HP:0003319" ], "is_obsolete": "", "replace_id": "" }, "HP:0008441": { "name": [ "herniation of intervertebral nuclei", "herniation of intervertebral nucleus" ], "alt_id": [], "def": "The presence of one or more herniated nucleus pulposus of intervertebral disk.", "synonym": [ [ "herniated disc", "herniated disc" ], [ "herniated disk", "herniated disk" ], [ "herniated intervertebral nuclei", "herniated intervertebral nucleus" ] ], "xref": [ "MSH:D007405", "SNOMEDCT_US:73589001", "UMLS:C0021818", "UMLS:C1832597" ], "is_a": [ "HP:0005108" ], "is_obsolete": "", "replace_id": "" }, "HP:0008442": { "name": [ "vertebral hyperostosis", "vertebral hyperostosis" ], "alt_id": [], "def": "Excessive growth of the bones of the vertebral bodies.", "synonym": [], "xref": [ "UMLS:C1834057" ], "is_a": [ "HP:0003468", "HP:0100774" ], "is_obsolete": "", "replace_id": "" }, "HP:0008443": { "name": [ "spinal deformities", "spinal deformity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:298380006", "UMLS:C0575157" ], "is_a": [ "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0008444": { "name": [ "posterior wedging of vertebral bodies", "posterior wedging of vertebral body" ], "alt_id": [], "def": "An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).", "synonym": [ [ "posterior wedging", "posterior wedging" ] ], "xref": [ "UMLS:C1969679" ], "is_a": [ "HP:0008422" ], "is_obsolete": "", "replace_id": "" }, "HP:0008445": { "name": [ "cervical spinal canal stenosis", "cervical spinal canal stenosis" ], "alt_id": [], "def": "An abnormal narrowing of the cervical spinal canal.", "synonym": [ [ "narrow cervical spinal canal", "narrow cervical spinal canal" ] ], "xref": [ "UMLS:C1844925" ], "is_a": [ "HP:0003416" ], "is_obsolete": "", "replace_id": "" }, "HP:0008447": { "name": [ "hypoplastic coccygeal vertebrae", "hypoplastic coccygeal vertebra" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C2751480" ], "is_a": [ "HP:0008417" ], "is_obsolete": "", "replace_id": "" }, "HP:0008449": { "name": [ "progressive cervical vertebral spine fusion", "progressive cervical vertebral spine fusion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1851129" ], "is_a": [ "HP:0002949" ], "is_obsolete": "", "replace_id": "" }, "HP:0008450": { "name": [ "narrow vertebral interpedicular distance", "narrow vertebral interpedicular distance" ], "alt_id": [ "HP:0008426", "HP:0008448", "HP:0008474" ], "def": "A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.", "synonym": [ [ "interpedicular narrowing", "interpedicular narrowing" ], [ "narrow interpedicular space", "narrow interpedicular space" ], [ "narrow interpediculate distances", "narrow interpediculate distance" ], [ "narrowing of interpediculate distances", "narrowing of interpediculate distance" ] ], "xref": [ "UMLS:C1832598" ], "is_a": [ "HP:0008438" ], "is_obsolete": "", "replace_id": "" }, "HP:0008451": { "name": [ "posterior vertebral hypoplasia", "posterior vertebral hypoplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1856780" ], "is_a": [ "HP:0008417" ], "is_obsolete": "", "replace_id": "" }, "HP:0008452": { "name": [ "wafer - thin platyspondyly", "wafer - thin platyspondyly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1865124" ], "is_a": [ "HP:0004565" ], "is_obsolete": "", "replace_id": "" }, "HP:0008453": { "name": [ "congenital kyphoscoliosis", "congenital kyphoscoliosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:405772002", "UMLS:C0345392" ], "is_a": [ "HP:0002751" ], "is_obsolete": "", "replace_id": "" }, "HP:0008454": { "name": [ "lumbar kyphosis", "lumbar kyphosis" ], "alt_id": [ "HP:0008487" ], "def": "Over curvature of the lumbar region.", "synonym": [ [ "lumbar gibbus deformity", "lumbar gibbus deformity" ], [ "rounded lower back", "round low back" ] ], "xref": [ "UMLS:C1844818" ], "is_a": [ "HP:0100712" ], "is_obsolete": "", "replace_id": "" }, "HP:0008455": { "name": [ "dysplastic sacrum", "dysplastic sacrum" ], "alt_id": [], "def": "A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally.", "synonym": [ [ "absence of some of the sacral and coccygeal bones", "absence of some of the sacral and coccygeal bone" ], [ "partial sacral agenesis", "partial sacral agenesis" ], [ "sacral dysgenesis", "sacral dysgenesis" ] ], "xref": [ "UMLS:C1851305" ], "is_a": [ "HP:0005107" ], "is_obsolete": "", "replace_id": "" }, "HP:0008456": { "name": [ "c2 - c3 subluxation", "c2 - c3 subluxation" ], "alt_id": [], "def": "A partial dislocation of the intervertebral joint between the second and third cervical vertebrae.", "synonym": [], "xref": [ "UMLS:C2678323" ], "is_a": [ "HP:0003308" ], "is_obsolete": "", "replace_id": "" }, "HP:0008457": { "name": [ "caudal interpedicular narrowing", "caudal interpedicular narrowing" ], "alt_id": [], "def": "Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine.", "synonym": [ [ "caudal narrowing of interpedicular distances", "caudal narrowing of interpedicular distance" ] ], "xref": [ "UMLS:C1863734" ], "is_a": [ "HP:0008450" ], "is_obsolete": "", "replace_id": "" }, "HP:0008458": { "name": [ "progressive congenital scoliosis", "progressive congenital scoliosis" ], "alt_id": [], "def": "A progressive form of scoliosis with congenital onset.", "synonym": [], "xref": [ "UMLS:C1857025" ], "is_a": [ "HP:0002650" ], "is_obsolete": "", "replace_id": "" }, "HP:0008459": { "name": [ "cervical vertebral agenesis", "cervical vertebral agenesis" ], "alt_id": [], "def": "Agenesis of one or more vertebrae of the cervical vertebral column.", "synonym": [ [ "cervical vertebrae agenesis", "cervical vertebra agenesis" ], [ "missing cervical vertebrae", "miss cervical vertebra" ] ], "xref": [ "MSH:C562952", "SNOMEDCT_US:91880006", "UMLS:C0432160" ], "is_a": [ "HP:0011041" ], "is_obsolete": "", "replace_id": "" }, "HP:0008460": { "name": [ "hypoplastic spinal processes", "hypoplastic spinal process" ], "alt_id": [], "def": "", "synonym": [ [ "underdeveloped spinal processes", "underdeveloped spinal process" ] ], "xref": [ "UMLS:C4024674" ], "is_a": [ "HP:0008518" ], "is_obsolete": "", "replace_id": "" }, "HP:0008461": { "name": [ "cervical vertebral facet hypoplasia", "cervical vertebral facet hypoplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024673" ], "is_a": [ "HP:0011041" ], "is_obsolete": "", "replace_id": "" }, "HP:0008462": { "name": [ "cervical instability", "cervical instability" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1863314" ], "is_a": [ "HP:0005881" ], "is_obsolete": "", "replace_id": "" }, "HP:0008463": { "name": [ "central vertebral hypoplasia", "central vertebral hypoplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024672" ], "is_a": [ "HP:0008417" ], "is_obsolete": "", "replace_id": "" }, "HP:0008464": { "name": [ "absent spinous processes of lower thoracic and lumbar vertebrae", "absent spinous process of low thoracic and lumbar vertebra" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024671" ], "is_a": [ "HP:0008516" ], "is_obsolete": "", "replace_id": "" }, "HP:0008465": { "name": [ "absent vertebra", "absent vertebra" ], "alt_id": [], "def": "A developmental defect characterized by agenesis of one or more vertebral bodies.", "synonym": [ [ "absent vertebrae", "absent vertebra" ] ], "xref": [ "SNOMEDCT_US:15843004", "UMLS:C0158776" ], "is_a": [ "HP:0008515" ], "is_obsolete": "", "replace_id": "" }, "HP:0008467": { "name": [ "thoracic hemivertebrae", "thoracic hemivertebrae" ], "alt_id": [ "HP:0004604" ], "def": "Absence of one half of the vertebral body in the thoracic spine.", "synonym": [ [ "midthoracic hemivertebrae", "midthoracic hemivertebrae" ] ], "xref": [ "SNOMEDCT_US:95304000", "UMLS:C0432152", "UMLS:C4020799" ], "is_a": [ "HP:0002937" ], "is_obsolete": "", "replace_id": "" }, "HP:0008468": { "name": [ "abnormal sacral segmentation", "abnormal sacral segmentation" ], "alt_id": [], "def": "An abnormality related to a defect of vertebral separation of sacral vertebrae during development.", "synonym": [], "xref": [ "UMLS:C1968942" ], "is_a": [ "HP:0008490" ], "is_obsolete": "", "replace_id": "" }, "HP:0008469": { "name": [ "cervical vertebral dysplasia", "cervical vertebral dysplasia" ], "alt_id": [], "def": "Dysplasia of the cervical vertebral column.", "synonym": [], "xref": [ "MSH:C566140", "UMLS:C1861693" ], "is_a": [ "HP:0046508" ], "is_obsolete": "", "replace_id": "" }, "HP:0008470": { "name": [ "lower thoracic interpediculate narrowness", "low thoracic interpediculate narrowness" ], "alt_id": [], "def": "A reduction of the distance between the lower thoracic vertebral pedicles.", "synonym": [ [ "narrowness of interpediculate distances in lower thoracic regions", "narrowness of interpediculate distance in low thoracic region" ] ], "xref": [ "UMLS:C1854940" ], "is_a": [ "HP:0008450" ], "is_obsolete": "", "replace_id": "" }, "HP:0008472": { "name": [ "prominent protruding coccyx", "prominent protruding coccyx" ], "alt_id": [], "def": "", "synonym": [ [ "large tailbone", "large tailbone" ], [ "prominent protruding tailbone", "prominent protrude tailbone" ] ], "xref": [ "UMLS:C1850044", "UMLS:C4280412" ], "is_a": [ "HP:0040016", "HP:0040017" ], "is_obsolete": "", "replace_id": "" }, "HP:0008473": { "name": [ "narrow anterio - posterior vertebral body diameter", "narrow anterio - posterior vertebral body diameter" ], "alt_id": [ "HP:0005732" ], "def": "An abnormal reduction of the anterioposterior diameter of the vertebral body.", "synonym": [ [ "reduced anterior - posterior diameter of vertebral bodies", "reduce anterior - posterior diameter of vertebral body" ], [ "reduced sagittal diameter of vertebrae", "reduce sagittal diameter of vertebra" ] ], "xref": [ "UMLS:C4021540" ], "is_a": [ "HP:0008479" ], "is_obsolete": "", "replace_id": "" }, "HP:0008475": { "name": [ "hypoplastic sacral vertebrae", "hypoplastic sacral vertebra" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C2751479" ], "is_a": [ "HP:0004590", "HP:0008417" ], "is_obsolete": "", "replace_id": "" }, "HP:0008476": { "name": [ "irregular sclerotic endplates", "irregular sclerotic endplate" ], "alt_id": [ "HP:0004624" ], "def": "", "synonym": [ [ "irregular , dense end plate", "irregular , dense end plate" ] ], "xref": [ "UMLS:C1868554" ], "is_a": [ "HP:0003301" ], "is_obsolete": "", "replace_id": "" }, "HP:0008477": { "name": [ "poorly ossified cervical vertebrae", "poorly ossify cervical vertebra" ], "alt_id": [], "def": "Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.", "synonym": [], "xref": [ "UMLS:C4024670" ], "is_a": [ "HP:0100856" ], "is_obsolete": "", "replace_id": "" }, "HP:0008478": { "name": [ "scheuermann - like vertebral changes", "scheuermann - like vertebral change" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1844926" ], "is_a": [ "HP:0010891" ], "is_obsolete": "", "replace_id": "" }, "HP:0008479": { "name": [ "hypoplastic vertebral bodies", "hypoplastic vertebral body" ], "alt_id": [ "HP:0002773" ], "def": "", "synonym": [ [ "small vertebrae", "small vertebra" ], [ "small vertebral bodies", "small vertebral body" ], [ "underdeveloped back bones", "underdeveloped back bone" ] ], "xref": [ "UMLS:C1863353" ], "is_a": [ "HP:0003312", "HP:0008417" ], "is_obsolete": "", "replace_id": "" }, "HP:0008480": { "name": [ "cervical spondylosis", "cervical spondylosis" ], "alt_id": [], "def": "The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column.", "synonym": [ [ "cervical oestoarthritis", "cervical oestoarthritis" ], [ "neck arthritis", "neck arthritis" ] ], "xref": [ "MSH:D055009", "SNOMEDCT_US:387800004", "SNOMEDCT_US:387801000", "UMLS:C0263854", "UMLS:C1384641" ], "is_a": [ "HP:0003319" ], "is_obsolete": "", "replace_id": "" }, "HP:0008482": { "name": [ "asymmetry of spinal facet joints", "asymmetry of spinal facet joint" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024669" ], "is_a": [ "HP:0030870" ], "is_obsolete": "", "replace_id": "" }, "HP:0008483": { "name": [ "cervical vertebral bodies with decreased anteroposterior diameter", "cervical vertebral body with decreased anteroposterior diameter" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1847393" ], "is_a": [ "HP:0003319" ], "is_obsolete": "", "replace_id": "" }, "HP:0008484": { "name": [ "thoracolumbar interpediculate narrowness", "thoracolumbar interpediculate narrowness" ], "alt_id": [], "def": "A reduction of the distance between thoracolumbar vertebral pedicles.", "synonym": [ [ "narrow thoracolumbar interpediculate distance", "narrow thoracolumbar interpediculate distance" ] ], "xref": [ "UMLS:C1864364" ], "is_a": [ "HP:0008450" ], "is_obsolete": "", "replace_id": "" }, "HP:0008486": { "name": [ "lumbar interpedicular narrowing", "lumbar interpedicular narrowing" ], "alt_id": [], "def": "Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column.", "synonym": [ [ "decreasing lumbar vertebrae interpediculate distance", "decrease lumbar vertebra interpediculate distance" ] ], "xref": [ "UMLS:C1849079" ], "is_a": [ "HP:0008457" ], "is_obsolete": "", "replace_id": "" }, "HP:0008488": { "name": [ "anterior rounding of vertebral bodies", "anterior rounding of vertebral body" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850043" ], "is_a": [ "HP:0003300" ], "is_obsolete": "", "replace_id": "" }, "HP:0008489": { "name": [ "spondylolisthesis at l5 - s1", "spondylolisthesis at l5 - s1" ], "alt_id": [ "HP:0005779" ], "def": "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1).", "synonym": [ [ "spondylolysis and spondylolisthesis of l5", "spondylolysis and spondylolisthesis of l5" ] ], "xref": [ "UMLS:C3275799" ], "is_a": [ "HP:0003302" ], "is_obsolete": "", "replace_id": "" }, "HP:0008490": { "name": [ "sacral segmentation defect", "sacral segmentation defect" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1850329" ], "is_a": [ "HP:0003422", "HP:0005107" ], "is_obsolete": "", "replace_id": "" }, "HP:0008491": { "name": [ "premature anterior fontanel closure", "premature anterior fontanel closure" ], "alt_id": [], "def": "Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.", "synonym": [], "xref": [ "UMLS:C4024668" ], "is_a": [ "HP:0000236" ], "is_obsolete": "", "replace_id": "" }, "HP:0008494": { "name": [ "inferior lens subluxation", "inferior lens subluxation" ], "alt_id": [], "def": "Partial displacement of the lens in the inferior direction.", "synonym": [ [ "inferior subluxated lens", "inferior subluxate lens" ] ], "xref": [ "UMLS:C2036842" ], "is_a": [ "HP:0001132" ], "is_obsolete": "", "replace_id": "" }, "HP:0008496": { "name": [ "multiple rows of eyelashes", "multiple row of eyelash" ], "alt_id": [], "def": "", "synonym": [ [ "double row of eyelashes", "double row of eyelash" ], [ "extra rows of eyelashes", "extra row of eyelash" ], [ "multiple rows of eyelashes", "multiple row of eyelash" ], [ "two rows of eyelashes", "two row of eyelash" ] ], "xref": [ "SNOMEDCT_US:95339000", "UMLS:C0423848", "UMLS:C3550336" ], "is_a": [ "HP:0000499" ], "is_obsolete": "", "replace_id": "" }, "HP:0008497": { "name": [ "congenital craniofacial dysostosis", "congenital craniofacial dysostosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024667" ], "is_a": [ "HP:0004439" ], "is_obsolete": "", "replace_id": "" }, "HP:0008498": { "name": [ "no permanent dentition", "no permanent dentition" ], "alt_id": [], "def": "", "synonym": [ [ "absence of adult teeth", "absence of adult teeth" ], [ "absence of secondary dentition", "absence of secondary dentition" ], [ "missing adult teeth", "miss adult teeth" ], [ "no adult dentition", "no adult dentition" ], [ "no secondary dentition", "no secondary dentition" ] ], "xref": [ "UMLS:C4024666" ], "is_a": [ "HP:0000696" ], "is_obsolete": "", "replace_id": "" }, "HP:0008499": { "name": [ "high hypermetropia", "high hypermetropia" ], "alt_id": [], "def": "A severe form of hypermetropia with over +5.00 diopters.", "synonym": [ [ "high hyperopia", "high hyperopia" ], [ "high - grade hypermetropia", "high - grade hypermetropia" ], [ "severe farsightedness", "severe farsightedness" ], [ "severe long - sightedness", "severe long - sightedness" ] ], "xref": [ "UMLS:C4024665" ], "is_a": [ "HP:0000540" ], "is_obsolete": "", "replace_id": "" }, "HP:0008501": { "name": [ "median cleft lip and palate", "median cleft lip and palate" ], "alt_id": [ "HP:0009089" ], "def": "Cleft lip or palate affecting the midline region of the palate.", "synonym": [ [ "central cleft lip and palate", "central cleft lip and palate" ], [ "medial cleft lip and palate", "medial cleft lip and palate" ], [ "midline cleft lip / palate", "midline cleft lip / palate" ], [ "wide midline cleft lip / palate", "wide midline cleft lip / palate" ] ], "xref": [ "UMLS:C2750604" ], "is_a": [ "HP:0000161", "HP:0009099" ], "is_obsolete": "", "replace_id": "" }, "HP:0008504": { "name": [ "moderate sensorineural hearing impairment", "moderate sensorineural hearing impairment" ], "alt_id": [], "def": "The presence of a moderate form of sensorineural hearing impairment.", "synonym": [ [ "moderate neural deafness", "moderate neural deafness" ] ], "xref": [ "UMLS:C4020798", "UMLS:C4024664" ], "is_a": [ "HP:0000407", "HP:0012713" ], "is_obsolete": "", "replace_id": "" }, "HP:0008507": { "name": [ "static ophthalmoparesis", "static ophthalmoparesis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024663" ], "is_a": [ "HP:0000597" ], "is_obsolete": "", "replace_id": "" }, "HP:0008509": { "name": [ "aged leonine appearance", "age leonine appearance" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3550331" ], "is_a": [ "HP:0007495" ], "is_obsolete": "", "replace_id": "" }, "HP:0008511": { "name": [ "central posterior corneal opacity", "central posterior corneal opacity" ], "alt_id": [], "def": "Reduced transparency of the central posterior portion of the corneal stroma.", "synonym": [], "xref": [ "SNOMEDCT_US:246967007", "UMLS:C0423260" ], "is_a": [ "HP:0011493" ], "is_obsolete": "", "replace_id": "" }, "HP:0008513": { "name": [ "bilateral conductive hearing impairment", "bilateral conductive hearing impairment" ], "alt_id": [ "HP:0008536" ], "def": "A bilateral type of conductive hearing impairment.", "synonym": [ [ "bilateral conductive deafness", "bilateral conductive deafness" ], [ "bilateral conductive hearing loss", "bilateral conductive hearing loss" ] ], "xref": [ "SNOMEDCT_US:194417009", "UMLS:C0452136" ], "is_a": [ "HP:0000405" ], "is_obsolete": "", "replace_id": "" }, "HP:0008515": { "name": [ "aplasia / hypoplasia of the vertebrae", "aplasia / hypoplasia of the vertebra" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small vertebrae", "absent / small vertebra" ], [ "absent / underdeveloped vertebrae", "absent / underdevelop vertebra" ] ], "xref": [ "UMLS:C4024662" ], "is_a": [ "HP:0003468", "HP:0008518" ], "is_obsolete": "", "replace_id": "" }, "HP:0008516": { "name": [ "abnormality of the vertebral spinous processes", "abnormality of the vertebral spinous process" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024661" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0008517": { "name": [ "aplasia / hypoplasia of the sacrum", "aplasia / hypoplasia of the sacrum" ], "alt_id": [], "def": "Aplasia or developmental hypoplasia of the sacral bone.", "synonym": [ [ "absent / small sacrum", "absent / small sacrum" ], [ "absent / underdeveloped sacrum", "absent / underdevelop sacrum" ] ], "xref": [ "UMLS:C4024660" ], "is_a": [ "HP:0005107", "HP:0008518" ], "is_obsolete": "", "replace_id": "" }, "HP:0008518": { "name": [ "aplasia / hypoplasia involving the vertebral column", "aplasia / hypoplasia involve the vertebral column" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small backbone", "absent / small backbone" ], [ "absent / small spine", "absent / small spine" ], [ "absent / small vertebral column", "absent / small vertebral column" ], [ "absent / underdeveloped backbone", "absent / underdevelop backbone" ], [ "absent / underdeveloped spine", "absent / underdevelop spine" ], [ "absent / underdeveloped vertebral column", "absent / underdevelop vertebral column" ] ], "xref": [ "UMLS:C4024659" ], "is_a": [ "HP:0000925", "HP:0009122" ], "is_obsolete": "", "replace_id": "" }, "HP:0008519": { "name": [ "abnormal coccyx morphology", "abnormal coccyx morphology" ], "alt_id": [ "HP:0002830" ], "def": "Any structural abnormality of the coccyx.", "synonym": [ [ "abnormal tailbone", "abnormal tailbone" ], [ "abnormality of the coccyx", "abnormality of the coccyx" ] ], "xref": [ "UMLS:C4024658" ], "is_a": [ "HP:0000925", "HP:0002644" ], "is_obsolete": "", "replace_id": "" }, "HP:0008523": { "name": [ "posterior helix pit", "posterior helix pit" ], "alt_id": [], "def": "Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.", "synonym": [ [ "ear , posterior helical groove", "ear , posterior helical groove" ], [ "ear , posterior helical notch", "ear , posterior helical notch" ], [ "helix , posterior pit", "helix , posterior pit" ], [ "indentation in back of outer ear", "indentation in back of outer ear" ], [ "pits in posterior aspect of ear helices", "pit in posterior aspect of ear helix" ] ], "xref": [ "UMLS:C4021539" ], "is_a": [ "HP:0011039" ], "is_obsolete": "", "replace_id": "" }, "HP:0008527": { "name": [ "congenital sensorineural hearing impairment", "congenital sensorineural hearing impairment" ], "alt_id": [ "HP:0004455", "HP:0004457", "HP:0008520", "HP:0008521", "HP:0008540", "HP:0008543", "HP:0008545", "HP:0008546", "HP:0008556", "HP:0008558", "HP:0008561", "HP:0008571", "HP:0008603", "HP:0008612", "HP:0008620" ], "def": "A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.", "synonym": [ [ "bilateral congenital sensorineural deafness", "bilateral congenital sensorineural deafness" ], [ "congenital neurosensory deafness", "congenital neurosensory deafness" ], [ "congenital perceptive deafness", "congenital perceptive deafness" ], [ "congenital sensorineural deafness", "congenital sensorineural deafness" ], [ "congenital sensorineural hearing loss", "congenital sensorineural hearing loss" ], [ "hearing loss , congenital sensorineural", "hearing loss , congenital sensorineural" ] ], "xref": [ "SNOMEDCT_US:700453005", "UMLS:C1865866" ], "is_a": [ "HP:0000407" ], "is_obsolete": "", "replace_id": "" }, "HP:0008528": { "name": [ "long hairs growing from helix of pinna", "long hair grow from helix of pinna" ], "alt_id": [], "def": "", "synonym": [ [ "ear hair", "ear hair" ], [ "long hairs growing from helix of ear", "long hair grow from helix of ear" ] ], "xref": [ "SNOMEDCT_US:27394002", "UMLS:C0222050", "UMLS:C4024657" ], "is_a": [ "HP:0011039" ], "is_obsolete": "", "replace_id": "" }, "HP:0008529": { "name": [ "absence of acoustic reflex", "absence of acoustic reflex" ], "alt_id": [ "HP:0008595" ], "def": "Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.", "synonym": [ [ "absence of acoustic middle ear muscle reflexes", "absence of acoustic middle ear muscle reflex" ], [ "absent middle ear reflexes", "absent middle ear reflex" ] ], "xref": [ "UMLS:C1832834" ], "is_a": [ "HP:0040121" ], "is_obsolete": "", "replace_id": "" }, "HP:0008537": { "name": [ "cleft at the superior portion of the pinna", "cleft at the superior portion of the pinna" ], "alt_id": [], "def": "", "synonym": [ [ "cleft at the superior portion of the ear", "cleft at the superior portion of the ear" ] ], "xref": [ "UMLS:C1865302" ], "is_a": [ "HP:0009902" ], "is_obsolete": "", "replace_id": "" }, "HP:0008541": { "name": [ "superiorly displaced ears", "superiorly displace ear" ], "alt_id": [], "def": "", "synonym": [ [ "high set ears", "high set ear" ] ], "xref": [ "UMLS:C1850190" ], "is_a": [ "HP:0000357" ], "is_obsolete": "", "replace_id": "" }, "HP:0008542": { "name": [ "low - frequency hearing loss", "low - frequency hearing loss" ], "alt_id": [], "def": "A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).", "synonym": [ [ "low - frequency hearing loss", "low - frequency hearing loss" ] ], "xref": [ "SNOMEDCT_US:42538001", "UMLS:C0271514" ], "is_a": [ "HP:0000365" ], "is_obsolete": "", "replace_id": "" }, "HP:0008544": { "name": [ "abnormally folded helix", "abnormally fold helix" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1970777" ], "is_a": [ "HP:0011039" ], "is_obsolete": "", "replace_id": "" }, "HP:0008551": { "name": [ "microtia", "microtia" ], "alt_id": [ "HP:0000393", "HP:0000409", "HP:0008550", "HP:0008618", "HP:0008621" ], "def": "Underdevelopment of the external ear.", "synonym": [ [ "bilateral microtia", "bilateral microtia" ], [ "hypoplasia of the external ear", "hypoplasia of the external ear" ], [ "hypoplastic ears", "hypoplastic ear" ], [ "hypoplastic pinna", "hypoplastic pinna" ], [ "small ears", "small ear" ], [ "small pinnae", "small pinna" ], [ "underdeveloped ears", "underdeveloped ear" ] ], "xref": [ "MSH:D065817", "SNOMEDCT_US:35045004", "UMLS:C0152423" ], "is_a": [ "HP:0000377", "HP:0008772" ], "is_obsolete": "", "replace_id": "" }, "HP:0008554": { "name": [ "cochlear malformation", "cochlear malformation" ], "alt_id": [], "def": "The presence of a malformed cochlea.", "synonym": [], "xref": [ "UMLS:C1862050" ], "is_a": [ "HP:0000375" ], "is_obsolete": "", "replace_id": "" }, "HP:0008555": { "name": [ "absent vestibular function", "absent vestibular function" ], "alt_id": [], "def": "Complete lack of functioning of the vestibular apparatus.", "synonym": [], "xref": [ "UMLS:C4024656" ], "is_a": [ "HP:0001756" ], "is_obsolete": "", "replace_id": "" }, "HP:0008559": { "name": [ "hypoplastic superior helix", "hypoplastic superior helix" ], "alt_id": [ "HP:0008627" ], "def": "", "synonym": [ [ "underdeveloped superior helices", "underdeveloped superior helix" ] ], "xref": [ "UMLS:C1865305" ], "is_a": [ "HP:0008589" ], "is_obsolete": "", "replace_id": "" }, "HP:0008568": { "name": [ "vestibular areflexia", "vestibular areflexia" ], "alt_id": [ "HP:0008526" ], "def": "Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.", "synonym": [ [ "vestibular ataxia", "vestibular ataxia" ] ], "xref": [ "SNOMEDCT_US:22443004", "UMLS:C0235927", "UMLS:C4015052" ], "is_a": [ "HP:0007670" ], "is_obsolete": "", "replace_id": "" }, "HP:0008569": { "name": [ "microtia , second degree", "microtia , second degree" ], "alt_id": [], "def": "Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear.", "synonym": [ [ "cockleshell ear", "cockleshell ear" ], [ "constricted helix type iv", "constrict helix type iv" ], [ "ear , grade ii dysplasia", "ear , grade ii dysplasia" ], [ "mini ear", "mini ear" ], [ "severe cupped ear , type iii", "severe cup ear , type iii" ], [ "shell ear", "shell ear" ], [ "snail ear", "snail ear" ] ], "xref": [ "UMLS:C4020694", "UMLS:C4020792", "UMLS:C4020793", "UMLS:C4020794", "UMLS:C4020795", "UMLS:C4020796", "UMLS:C4020797" ], "is_a": [ "HP:0008551" ], "is_obsolete": "", "replace_id": "" }, "HP:0008572": { "name": [ "external ear malformation", "external ear malformation" ], "alt_id": [ "HP:0008594" ], "def": "A malformation of the auricle of the ear.", "synonym": [ [ "external ear malformation", "external ear malformation" ] ], "xref": [ "UMLS:C1846460" ], "is_a": [ "HP:0000356" ], "is_obsolete": "", "replace_id": "" }, "HP:0008573": { "name": [ "low - frequency sensorineural hearing impairment", "low - frequency sensorineural hearing impairment" ], "alt_id": [], "def": "A form of sensorineural hearing impairment that affects primarily the lower frequencies.", "synonym": [ [ "low - frequency sensorineural hearing loss", "low - frequency sensorineural hearing loss" ] ], "xref": [ "UMLS:C3810445" ], "is_a": [ "HP:0000407" ], "is_obsolete": "", "replace_id": "" }, "HP:0008577": { "name": [ "underfolded helix", "underfolded helix" ], "alt_id": [], "def": "Underdevelopment of the helix that either affects the entire helix, or is localized.", "synonym": [ [ "poorly folded helices", "poorly fold helix" ] ], "xref": [ "UMLS:C1849735" ], "is_a": [ "HP:0008544" ], "is_obsolete": "", "replace_id": "" }, "HP:0008583": { "name": [ "underfolded superior helices", "underfolded superior helix" ], "alt_id": [], "def": "A condition in which the superior portion of the helix is folded over to a lesser degree than normal.", "synonym": [], "xref": [ "UMLS:C4024655" ], "is_a": [ "HP:0008577" ], "is_obsolete": "", "replace_id": "" }, "HP:0008586": { "name": [ "hypoplasia of the cochlea", "hypoplasia of the cochlea" ], "alt_id": [], "def": "Developmental hypoplasia of the cochlea.", "synonym": [ [ "hypoplastic cochlea", "hypoplastic cochlea" ], [ "underdeveloped cochlea", "underdeveloped cochlea" ] ], "xref": [ "UMLS:C2676974" ], "is_a": [ "HP:0011395" ], "is_obsolete": "", "replace_id": "" }, "HP:0008587": { "name": [ "mild neurosensory hearing impairment", "mild neurosensory hearing impairment" ], "alt_id": [], "def": "The presence of a mild form of sensorineural hearing impairment.", "synonym": [ [ "mild neurosensory hearing loss", "mild neurosensory hearing loss" ] ], "xref": [ "UMLS:C4021538" ], "is_a": [ "HP:0000407", "HP:0012712" ], "is_obsolete": "", "replace_id": "" }, "HP:0008588": { "name": [ "slit - like opening of the exterior auditory meatus", "slit - like opening of the exterior auditory meatus" ], "alt_id": [], "def": "A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit.", "synonym": [], "xref": [ "UMLS:C1846459" ], "is_a": [ "HP:0000402" ], "is_obsolete": "", "replace_id": "" }, "HP:0008589": { "name": [ "hypoplastic helices", "hypoplastic helix" ], "alt_id": [], "def": "Underdevelopment of the helix, i.e., of the outer rim of the pinna.", "synonym": [ [ "underdeveloped helices", "underdeveloped helix" ] ], "xref": [ "UMLS:C1842681" ], "is_a": [ "HP:0011039" ], "is_obsolete": "", "replace_id": "" }, "HP:0008591": { "name": [ "congenital conductive hearing impairment", "congenital conductive hearing impairment" ], "alt_id": [ "HP:0008525" ], "def": "A type of conductive deafness with congenital onset.", "synonym": [ [ "congenital conductive deafness", "congenital conductive deafness" ], [ "congenital conductive hearing loss", "congenital conductive hearing loss" ] ], "xref": [ "UMLS:C4021537" ], "is_a": [ "HP:0000405" ], "is_obsolete": "", "replace_id": "" }, "HP:0008593": { "name": [ "prominent antitragus", "prominent antitragus" ], "alt_id": [], "def": "Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.", "synonym": [ [ "enlarged antitragus", "enlarge antitragus" ], [ "hyperplastic antitragus", "hyperplastic antitragus" ], [ "hypertrophic antitragus", "hypertrophic antitragus" ] ], "xref": [ "UMLS:C1968811" ], "is_a": [ "HP:0009896" ], "is_obsolete": "", "replace_id": "" }, "HP:0008596": { "name": [ "postlingual sensorineural hearing impairment", "postlingual sensorineural hearing impairment" ], "alt_id": [], "def": "A form of sensorineural hearing impairment with onset after the acquisition of speech.", "synonym": [], "xref": [ "UMLS:C4024654" ], "is_a": [ "HP:0011474" ], "is_obsolete": "", "replace_id": "" }, "HP:0008598": { "name": [ "mild conductive hearing impairment", "mild conductive hearing impairment" ], "alt_id": [], "def": "A mild form of conductive hearing impairment.", "synonym": [ [ "conductive hearing loss , mild", "conductive hearing loss , mild" ] ], "xref": [ "UMLS:C4021536" ], "is_a": [ "HP:0000405", "HP:0012712" ], "is_obsolete": "", "replace_id": "" }, "HP:0008605": { "name": [ "unilateral external ear deformity", "unilateral external ear deformity" ], "alt_id": [], "def": "", "synonym": [ [ "deformed external ear on one side", "deform external ear on one side" ] ], "xref": [ "UMLS:C1834043" ], "is_a": [ "HP:0000356" ], "is_obsolete": "", "replace_id": "" }, "HP:0008606": { "name": [ "supraauricular pit", "supraauricular pit" ], "alt_id": [], "def": "Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.", "synonym": [ [ "pit above the ear", "pit above the ear" ], [ "supraauricular fistula", "supraauricular fistula" ], [ "supraauricular sinus", "supraauricular sinus" ], [ "supraauricular sinuses", "supraauricular sinus" ] ], "xref": [ "UMLS:C1862059" ], "is_a": [ "HP:0100277" ], "is_obsolete": "", "replace_id": "" }, "HP:0008607": { "name": [ "progressive conductive hearing impairment", "progressive conductive hearing impairment" ], "alt_id": [], "def": "A progressive type of conductive deafness.", "synonym": [ [ "progressive conductive deafness", "progressive conductive deafness" ] ], "xref": [ "UMLS:C1861325" ], "is_a": [ "HP:0000405" ], "is_obsolete": "", "replace_id": "" }, "HP:0008608": { "name": [ "hypertrophic auricular cartilage", "hypertrophic auricular cartilage" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1857263" ], "is_a": [ "HP:0000356" ], "is_obsolete": "", "replace_id": "" }, "HP:0008609": { "name": [ "morphological abnormality of the middle ear", "morphological abnormality of the middle ear" ], "alt_id": [], "def": "An abnormality of the morphology or structure of the middle ear.", "synonym": [ [ "middle ear malformation", "middle ear malformation" ], [ "morphological abnormality of the middle ear", "morphological abnormality of the middle ear" ] ], "xref": [ "UMLS:C1857456" ], "is_a": [ "HP:0000370" ], "is_obsolete": "", "replace_id": "" }, "HP:0008610": { "name": [ "infantile sensorineural hearing impairment", "infantile sensorineural hearing impairment" ], "alt_id": [], "def": "A form of sensorineural hearing impairment with infantile onset.", "synonym": [ [ "infantile sensorineural hearing loss", "infantile sensorineural hearing loss" ] ], "xref": [ "UMLS:C4021535" ], "is_a": [ "HP:0011474" ], "is_obsolete": "", "replace_id": "" }, "HP:0008615": { "name": [ "adult onset sensorineural hearing impairment", "adult onset sensorineural hearing impairment" ], "alt_id": [ "HP:0008532", "HP:0008599" ], "def": "The presence of sensorineural deafness with late onset.", "synonym": [ [ "late sensorineural hearing loss", "late sensorineural hearing loss" ], [ "sensorineural deafness , late - onset", "sensorineural deafness , late - onset" ] ], "xref": [ "UMLS:C4021534" ], "is_a": [ "HP:0000407" ], "is_obsolete": "", "replace_id": "" }, "HP:0008619": { "name": [ "bilateral sensorineural hearing impairment", "bilateral sensorineural hearing impairment" ], "alt_id": [ "HP:0008530", "HP:0008539", "HP:0008579", "HP:0008585" ], "def": "A bilateral form of sensorineural hearing impairment.", "synonym": [ [ "bilateral nerve deafness", "bilateral nerve deafness" ], [ "bilateral sensorineural deafness", "bilateral sensorineural deafness" ], [ "bilateral sensorineural hearing loss", "bilateral sensorineural hearing loss" ], [ "hearing loss , sensorineural , bilateral", "hearing loss , sensorineural , bilateral" ] ], "xref": [ "SNOMEDCT_US:194424005", "UMLS:C0452138" ], "is_a": [ "HP:0000407" ], "is_obsolete": "", "replace_id": "" }, "HP:0008625": { "name": [ "severe sensorineural hearing impairment", "severe sensorineural hearing impairment" ], "alt_id": [ "HP:0008534", "HP:0008574" ], "def": "A severe form of sensorineural hearing impairment.", "synonym": [ [ "severe sensorineural deafness", "severe sensorineural deafness" ], [ "severe sensorineural hearing loss", "severe sensorineural hearing loss" ] ], "xref": [ "UMLS:C4021533" ], "is_a": [ "HP:0000407", "HP:0012714" ], "is_obsolete": "", "replace_id": "" }, "HP:0008628": { "name": [ "abnormality of the stapes", "abnormality of the stapes" ], "alt_id": [], "def": "An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.", "synonym": [ [ "stapedial abnormalities", "stapedial abnormality" ] ], "xref": [ "UMLS:C4021532" ], "is_a": [ "HP:0004452" ], "is_obsolete": "", "replace_id": "" }, "HP:0008629": { "name": [ "pulsatile tinnitus", "pulsatile tinnitus" ], "alt_id": [ "HP:0000361" ], "def": "Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation.", "synonym": [], "xref": [ "MSH:D014012", "SNOMEDCT_US:232322006", "UMLS:C0751559" ], "is_a": [ "HP:0000360" ], "is_obsolete": "", "replace_id": "" }, "HP:0008631": { "name": [ "ureteral dysgenesis", "ureteral dysgenesis" ], "alt_id": [], "def": "A developmental anomaly of the ureter.", "synonym": [], "xref": [ "UMLS:C4024653" ], "is_a": [ "HP:0025633" ], "is_obsolete": "", "replace_id": "" }, "HP:0008633": { "name": [ "agonadism", "agonadism" ], "alt_id": [], "def": "Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).", "synonym": [ [ "absent gonadal tissue", "absent gonadal tissue" ], [ "gonadal agenesis", "gonadal agenesis" ] ], "xref": [ "UMLS:C4024652" ], "is_a": [ "HP:0000812" ], "is_obsolete": "", "replace_id": "" }, "HP:0008635": { "name": [ "hypertrophy of the urinary bladder", "hypertrophy of the urinary bladder" ], "alt_id": [], "def": "Abnormal enlargement of the urinary bladder.", "synonym": [ [ "hypertrophic urinary bladder", "hypertrophic urinary bladder" ] ], "xref": [ "UMLS:C4021531" ], "is_a": [ "HP:0025487" ], "is_obsolete": "", "replace_id": "" }, "HP:0008636": { "name": [ "lobular glomerulopathy", "lobular glomerulopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024651" ], "is_a": [ "HP:0000095" ], "is_obsolete": "", "replace_id": "" }, "HP:0008639": { "name": [ "gonadal hypoplasia", "gonadal hypoplasia" ], "alt_id": [], "def": "", "synonym": [ [ "underdeveloped gonad", "underdeveloped gonad" ] ], "xref": [ "UMLS:C0239761" ], "is_a": [ "HP:0000812" ], "is_obsolete": "", "replace_id": "" }, "HP:0008640": { "name": [ "congenital macroorchidism", "congenital macroorchidism" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024650" ], "is_a": [ "HP:0000053" ], "is_obsolete": "", "replace_id": "" }, "HP:0008643": { "name": [ "nephroblastomatosis", "nephroblastomatosis" ], "alt_id": [], "def": "Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.", "synonym": [], "xref": [ "UMLS:C2675558" ], "is_a": [ "HP:0011794" ], "is_obsolete": "", "replace_id": "" }, "HP:0008647": { "name": [ "pubertal developmental failure in females", "pubertal developmental failure in female" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024649" ], "is_a": [ "HP:0008197" ], "is_obsolete": "", "replace_id": "" }, "HP:0008648": { "name": [ "anteriorly displaced urethral meatus", "anteriorly displace urethral meatus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024648" ], "is_a": [ "HP:0100627" ], "is_obsolete": "", "replace_id": "" }, "HP:0008651": { "name": [ "uric acid urolithiasis independent of gout", "uric acid urolithiasis independent of gout" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024647" ], "is_a": [ "HP:0000791" ], "is_obsolete": "", "replace_id": "" }, "HP:0008652": { "name": [ "autonomic erectile dysfunction", "autonomic erectile dysfunction" ], "alt_id": [], "def": "Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.", "synonym": [ [ "impotence due to autonomic dysfunction", "impotence due to autonomic dysfunction" ] ], "xref": [ "UMLS:C1868524" ], "is_a": [ "HP:0012332", "HP:0100639" ], "is_obsolete": "", "replace_id": "" }, "HP:0008653": { "name": [ "crescentic glomerulonephritis", "crescentic glomerulonephritis" ], "alt_id": [], "def": "A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation.", "synonym": [], "xref": [ "SNOMEDCT_US:236398000", "UMLS:C0403416" ], "is_a": [ "HP:0000099" ], "is_obsolete": "", "replace_id": "" }, "HP:0008655": { "name": [ "aplasia / hypoplasia of the fallopian tube", "aplasia / hypoplasia of the fallopian tube" ], "alt_id": [], "def": "Aplasia or developmental hypoplasia of the fallopian tube.", "synonym": [ [ "absent or rudimentary fallopian tubes", "absent or rudimentary fallopian tube" ], [ "absent / small fallopian tube", "absent / small fallopian tube" ], [ "absent / underdeveloped fallopian tube", "absent / underdevelop fallopian tube" ] ], "xref": [ "UMLS:C4020791", "UMLS:C4024646" ], "is_a": [ "HP:0011027" ], "is_obsolete": "", "replace_id": "" }, "HP:0008656": { "name": [ "incomplete male pseudohermaphroditism", "incomplete male pseudohermaphroditism" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024645" ], "is_a": [ "HP:0000037" ], "is_obsolete": "", "replace_id": "" }, "HP:0008659": { "name": [ "multiple small medullary renal cysts", "multiple small medullary renal cyst" ], "alt_id": [ "HP:0005569", "HP:0100956" ], "def": "The presence of many cysts in the medulla of the kidney.", "synonym": [ [ "medullary cystic disease", "medullary cystic disease" ], [ "medullary sponge kidney disease", "medullary sponge kidney disease" ] ], "xref": [ "SNOMEDCT_US:204958008", "UMLS:C0687120", "UMLS:C4020790", "UMLS:C4024644" ], "is_a": [ "HP:0000107", "HP:0100957" ], "is_obsolete": "", "replace_id": "" }, "HP:0008660": { "name": [ "renotubular dysgenesis", "renotubular dysgenesis" ], "alt_id": [], "def": "A developmental defect characterized by absence or poor development of proximal renal tubules.", "synonym": [ [ "renal tubular dysgenesis", "renal tubular dysgenesis" ] ], "xref": [ "MSH:C537048", "SNOMEDCT_US:702397002", "UMLS:C0266313" ], "is_a": [ "HP:0000091" ], "is_obsolete": "", "replace_id": "" }, "HP:0008661": { "name": [ "urethral stenosis", "urethral stenosis" ], "alt_id": [], "def": "Abnormal narrowing of the urethra.", "synonym": [ [ "narrowing of the urethra", "narrowing of the urethra" ] ], "xref": [ "MSH:D014525", "SNOMEDCT_US:236647003", "SNOMEDCT_US:76618002", "UMLS:C0041974" ], "is_a": [ "HP:0000796" ], "is_obsolete": "", "replace_id": "" }, "HP:0008663": { "name": [ "renal sarcoma", "renal sarcoma" ], "alt_id": [], "def": "A sarcoma of the kidney.", "synonym": [], "xref": [ "NCIT:C3158", "SNOMEDCT_US:254918001", "UMLS:C0346251" ], "is_a": [ "HP:0009726", "HP:0100242" ], "is_obsolete": "", "replace_id": "" }, "HP:0008664": { "name": [ "urethral sphincter sclerosis", "urethral sphincter sclerosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024643" ], "is_a": [ "HP:0008661" ], "is_obsolete": "", "replace_id": "" }, "HP:0008665": { "name": [ "clitoral hypertrophy", "clitoral hypertrophy" ], "alt_id": [ "HP:0000057", "HP:0008728" ], "def": "Hypertrophy of the clitoris.", "synonym": [ [ "clitoral enlargement", "clitoral enlargement" ], [ "clitoromegaly", "clitoromegaly" ], [ "enlarged clitoris", "enlarge clitoris" ], [ "hypertrophic clitoris", "hypertrophic clitoris" ], [ "prominent clitoris", "prominent clitoris" ] ], "xref": [ "SNOMEDCT_US:80212005", "UMLS:C0156394" ], "is_a": [ "HP:0040253" ], "is_obsolete": "", "replace_id": "" }, "HP:0008666": { "name": [ "impaired histidine renal tubular absorption", "impaired histidine renal tubular absorption" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024642" ], "is_a": [ "HP:0000124" ], "is_obsolete": "", "replace_id": "" }, "HP:0008668": { "name": [ "gonadal dysgenesis , male", "gonadal dysgenesis , male" ], "alt_id": [], "def": "Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation.", "synonym": [ [ "46 , xy gonadal dysgenesis", "46 , xy gonadal dysgenesis" ] ], "xref": [ "MSH:D006061", "UMLS:C0018054" ], "is_a": [ "HP:0000133" ], "is_obsolete": "", "replace_id": "" }, "HP:0008669": { "name": [ "abnormal spermatogenesis", "abnormal spermatogenesis" ], "alt_id": [], "def": "Incomplete maturation or aberrant formation of the male gametes.", "synonym": [ [ "abnormal sperm development", "abnormal sperm development" ], [ "impaired spermatogenesis", "impaired spermatogenesis" ] ], "xref": [ "SNOMEDCT_US:4529005", "UMLS:C0520933", "UMLS:C4020789" ], "is_a": [ "HP:0000025" ], "is_obsolete": "", "replace_id": "" }, "HP:0008670": { "name": [ "partial vaginal septum", "partial vaginal septum" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C0750088" ], "is_a": [ "HP:0001153" ], "is_obsolete": "", "replace_id": "" }, "HP:0008672": { "name": [ "calcium oxalate nephrolithiasis", "calcium oxalate nephrolithiasis" ], "alt_id": [ "HP:0008700", "HP:0008725" ], "def": "The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.", "synonym": [ [ "ca oxalate kidney stone", "ca oxalate kidney stone" ], [ "ca oxalate nephrolithiasis", "ca oxalate nephrolithiasis" ], [ "ca oxalate urolithiasis", "ca oxalate urolithiasis" ], [ "ca2+ oxalate kidney stone", "ca2+ oxalate kidney stone" ], [ "ca2+ oxalate nephrolithiasis", "ca2+ oxalate nephrolithiasis" ], [ "ca2+ oxalate urolithiasis", "ca2+ oxalate urolithiasis" ], [ "calcium oxalate kidney stones", "calcium oxalate kidney stone" ], [ "calcium oxalate urolithiasis", "calcium oxalate urolithiasis" ], [ "oxalate nephrolithiasis", "oxalate nephrolithiasis" ] ], "xref": [ "MSH:C563477", "SNOMEDCT_US:444717006", "UMLS:C1833683", "UMLS:C4280806" ], "is_a": [ "HP:0004724" ], "is_obsolete": "", "replace_id": "" }, "HP:0008675": { "name": [ "enlarged polycystic ovaries", "enlarge polycystic ovary" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged ovaries with cysts", "enlarged ovary with cyst" ] ], "xref": [ "UMLS:C4024641" ], "is_a": [ "HP:0000147", "HP:0100879" ], "is_obsolete": "", "replace_id": "" }, "HP:0008676": { "name": [ "congenital megaureter", "congenital megaureter" ], "alt_id": [], "def": "A developmental disturbance with extreme ureteral dilatation.", "synonym": [ [ "congenital megaloureter", "congenital megaloureter" ] ], "xref": [ "SNOMEDCT_US:718485003", "SNOMEDCT_US:95576001", "UMLS:C0266324" ], "is_a": [ "HP:0000072" ], "is_obsolete": "", "replace_id": "" }, "HP:0008677": { "name": [ "congenital nephrotic syndrome", "congenital nephrotic syndrome" ], "alt_id": [], "def": "Nephrotic syndrome with onset within the first three months of life.", "synonym": [ [ "congenital nephrosis", "congenital nephrosis" ] ], "xref": [ "MSH:C535761", "SNOMEDCT_US:48796009", "UMLS:C3501848" ], "is_a": [ "HP:0000100" ], "is_obsolete": "", "replace_id": "" }, "HP:0008678": { "name": [ "renal hypoplasia / aplasia", "renal hypoplasia / aplasia" ], "alt_id": [ "HP:0004744", "HP:0008701" ], "def": "Absence or underdevelopment of the kidney.", "synonym": [ [ "absent / small kidney", "absent / small kidney" ], [ "absent / underdeveloped kidney", "absent / underdevelop kidney" ], [ "renal agenesis / hypoplasia", "renal agenesis / hypoplasia" ], [ "renal aplasia / hypoplasia", "renal aplasia / hypoplasia" ] ], "xref": [ "UMLS:C1857453" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0008682": { "name": [ "renal tubular epithelial necrosis", "renal tubular epithelial necrosis" ], "alt_id": [], "def": "Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%).", "synonym": [ [ "acute tubular necrosis", "acute tubular necrosis" ], [ "renal tubular necrosis", "renal tubular necrosis" ] ], "xref": [ "MSH:D007683", "SNOMEDCT_US:35455006", "UMLS:C0022672" ], "is_a": [ "HP:0000091", "HP:0032618" ], "is_obsolete": "", "replace_id": "" }, "HP:0008683": { "name": [ "enlarged labia minora", "enlarge labium minora" ], "alt_id": [ "HP:0008662", "HP:0008694" ], "def": "Increase in size of the folds of skin between the outer labia.", "synonym": [ [ "hypertrophic labia minora", "hypertrophic labium minora" ], [ "labia minora hypertrophy", "labia minora hypertrophy" ] ], "xref": [ "UMLS:C1849358" ], "is_a": [ "HP:0000065", "HP:0012880" ], "is_obsolete": "", "replace_id": "" }, "HP:0008684": { "name": [ "aplasia / hypoplasia of the uterus", "aplasia / hypoplasia of the uterus" ], "alt_id": [], "def": "Absence or developmental hypoplasia of the uterus.", "synonym": [ [ "absent / small uterus", "absent / small uterus" ], [ "absent / underdeveloped uterus", "absent / underdevelop uterus" ] ], "xref": [ "UMLS:C4024640" ], "is_a": [ "HP:0000130" ], "is_obsolete": "", "replace_id": "" }, "HP:0008687": { "name": [ "hypoplasia of the prostate", "hypoplasia of the prostate" ], "alt_id": [], "def": "", "synonym": [ [ "hypoplastic prostate", "hypoplastic prostate" ], [ "underdeveloped prostate", "underdeveloped prostate" ] ], "xref": [ "UMLS:C1844923" ], "is_a": [ "HP:0008775" ], "is_obsolete": "", "replace_id": "" }, "HP:0008689": { "name": [ "bilateral cryptorchidism", "bilateral cryptorchidism" ], "alt_id": [ "HP:0008686" ], "def": "Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.", "synonym": [ [ "cryptorchidism , bilateral", "cryptorchidism , bilateral" ] ], "xref": [ "MSH:D003456", "SNOMEDCT_US:268228006", "UMLS:C0431663" ], "is_a": [ "HP:0000028" ], "is_obsolete": "", "replace_id": "" }, "HP:0008691": { "name": [ "solitary bladder diverticulum", "solitary bladder diverticulum" ], "alt_id": [], "def": "Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder.", "synonym": [], "xref": [ "UMLS:C4024639" ], "is_a": [ "HP:0000015" ], "is_obsolete": "", "replace_id": "" }, "HP:0008694": { "name": [ "obsolete hypertrophic labia minora", "obsolete hypertrophic labium minora" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0008683" }, "HP:0008695": { "name": [ "transient nephrotic syndrome", "transient nephrotic syndrome" ], "alt_id": [], "def": "", "synonym": [ [ "transient nephrosis", "transient nephrosis" ] ], "xref": [ "UMLS:C4024638" ], "is_a": [ "HP:0000100" ], "is_obsolete": "", "replace_id": "" }, "HP:0008696": { "name": [ "renal hamartoma", "renal hamartoma" ], "alt_id": [], "def": "A disordered proliferation of mature tissues that are native to the kidneys.", "synonym": [], "xref": [ "UMLS:C1840396" ], "is_a": [ "HP:0009726", "HP:0010566" ], "is_obsolete": "", "replace_id": "" }, "HP:0008697": { "name": [ "hypoplasia of the fallopian tube", "hypoplasia of the fallopian tube" ], "alt_id": [], "def": "Developmental hypoplasia of the fallopian tube.", "synonym": [ [ "rudimentary fallopian tubes", "rudimentary fallopian tube" ], [ "underdeveloped fallopian tube", "underdeveloped fallopian tube" ] ], "xref": [ "UMLS:C1968706" ], "is_a": [ "HP:0008655" ], "is_obsolete": "", "replace_id": "" }, "HP:0008702": { "name": [ "absent internal genitalia", "absent internal genitalia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024637" ], "is_a": [ "HP:0000812" ], "is_obsolete": "", "replace_id": "" }, "HP:0008703": { "name": [ "gonadal calcification", "gonadal calcification" ], "alt_id": [], "def": "Deposition of calcium salts in gonadal tissue.", "synonym": [], "xref": [ "UMLS:C4024636" ], "is_a": [ "HP:0000812", "HP:0010766" ], "is_obsolete": "", "replace_id": "" }, "HP:0008705": { "name": [ "ureteral triplication", "ureteral triplication" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024635" ], "is_a": [ "HP:0000073" ], "is_obsolete": "", "replace_id": "" }, "HP:0008706": { "name": [ "distal urethral duplication", "distal urethral duplication" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024634" ], "is_a": [ "HP:0000795" ], "is_obsolete": "", "replace_id": "" }, "HP:0008707": { "name": [ "absent scrotum", "absent scrotum" ], "alt_id": [], "def": "Congenital absence of the scrotum.", "synonym": [ [ "absent scrotum", "absent scrotum" ] ], "xref": [ "SNOMEDCT_US:249233008", "UMLS:C0426320" ], "is_a": [ "HP:0000045" ], "is_obsolete": "", "replace_id": "" }, "HP:0008708": { "name": [ "partial development of the penile shaft", "partial development of the penile shaft" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1837379" ], "is_a": [ "HP:0000036" ], "is_obsolete": "", "replace_id": "" }, "HP:0008711": { "name": [ "benign prostatic hyperplasia", "benign prostatic hyperplasia" ], "alt_id": [], "def": "The presence of non-malignant hyperplasia of the prostate.", "synonym": [ [ "benign prostatic hypertrophy", "benign prostatic hypertrophy" ] ], "xref": [ "MSH:D011470", "SNOMEDCT_US:266569009", "UMLS:C0005001", "UMLS:C1704272" ], "is_a": [ "HP:0008775" ], "is_obsolete": "", "replace_id": "" }, "HP:0008714": { "name": [ "ureterovesical stenosis", "ureterovesical stenosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024633" ], "is_a": [ "HP:0000071" ], "is_obsolete": "", "replace_id": "" }, "HP:0008715": { "name": [ "testicular dysgenesis", "testicular dysgenesis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:253847002", "UMLS:C0302885" ], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0008716": { "name": [ "urethrovaginal fistula", "urethrovaginal fistula" ], "alt_id": [], "def": "The presence of a fistula between the vagina and the urethra.", "synonym": [ [ "urethrovaginal fistulae", "urethrovaginal fistula" ] ], "xref": [ "SNOMEDCT_US:50477003", "UMLS:C0269133" ], "is_a": [ "HP:0004320", "HP:0010480" ], "is_obsolete": "", "replace_id": "" }, "HP:0008717": { "name": [ "unilateral renal atrophy", "unilateral renal atrophy" ], "alt_id": [], "def": "A unilateral form of atrophy of the kidney.", "synonym": [ [ "kidney degeneration on one side", "kidney degeneration on one side" ], [ "unilateral kidney wasting", "unilateral kidney wasting" ] ], "xref": [ "SNOMEDCT_US:424998002", "UMLS:C1827184" ], "is_a": [ "HP:0012585" ], "is_obsolete": "", "replace_id": "" }, "HP:0008718": { "name": [ "unilateral renal dysplasia", "unilateral renal dysplasia" ], "alt_id": [], "def": "A unilateral form of developmental dysplasia of the kidney.", "synonym": [], "xref": [ "SNOMEDCT_US:204951002", "UMLS:C0431697" ], "is_a": [ "HP:0000110" ], "is_obsolete": "", "replace_id": "" }, "HP:0008720": { "name": [ "primary testicular failure", "primary testicular failure" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:370997001", "SNOMEDCT_US:48723006", "UMLS:C1384582" ], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0008722": { "name": [ "urethral diverticulum", "urethral diverticulum" ], "alt_id": [], "def": "The presence of a diverticulum (sac or pouch) in the wall of the urethra.", "synonym": [], "xref": [ "SNOMEDCT_US:90531003", "UMLS:C0152443" ], "is_a": [ "HP:0000795" ], "is_obsolete": "", "replace_id": "" }, "HP:0008723": { "name": [ "gonadal dysgenesis with female appearance , male", "gonadal dysgenesis with female appearance , male" ], "alt_id": [], "def": "Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.", "synonym": [ [ "xy female gonadal dysgenesis", "xy female gonadal dysgenesis" ] ], "xref": [ "UMLS:C4020788", "UMLS:C4024632" ], "is_a": [ "HP:0000133" ], "is_obsolete": "", "replace_id": "" }, "HP:0008724": { "name": [ "hypoplasia of the ovary", "hypoplasia of the ovary" ], "alt_id": [], "def": "Developmental hypoplasia of the ovary.", "synonym": [ [ "hypoplastic ovary", "hypoplastic ovary" ], [ "underdeveloped ovary", "underdeveloped ovary" ] ], "xref": [ "SNOMEDCT_US:93279005", "UMLS:C0685840", "UMLS:C1835452" ], "is_a": [ "HP:0010462" ], "is_obsolete": "", "replace_id": "" }, "HP:0008726": { "name": [ "hypoplasia of the vagina", "hypoplasia of the vagina" ], "alt_id": [ "HP:0011938" ], "def": "Developmental hypoplasia of the vagina.", "synonym": [ [ "hypoplastic vagina", "hypoplastic vagina" ], [ "rudimentary vagina", "rudimentary vagina" ], [ "underdeveloped vagina", "underdeveloped vagina" ] ], "xref": [ "SNOMEDCT_US:253836009", "UMLS:C0345309", "UMLS:C1442988" ], "is_a": [ "HP:0011026" ], "is_obsolete": "", "replace_id": "" }, "HP:0008729": { "name": [ "absence of labia majora", "absence of labium majora" ], "alt_id": [], "def": "", "synonym": [ [ "absent vaginal lips", "absent vaginal lip" ] ], "xref": [ "UMLS:C1849575" ], "is_a": [ "HP:0012881" ], "is_obsolete": "", "replace_id": "" }, "HP:0008730": { "name": [ "female external genitalia in individual with 46 , xy karyotype", "female external genitalia in individual with 46 , xy karyotype" ], "alt_id": [ "HP:0008719" ], "def": "The presence of female external genitalia in a person with a male karyotype.", "synonym": [ [ "males with female external genitalia", "male with female external genitalia" ] ], "xref": [ "UMLS:C1848178" ], "is_a": [ "HP:0000032" ], "is_obsolete": "", "replace_id": "" }, "HP:0008732": { "name": [ "renal hypophosphatemia", "renal hypophosphatemia" ], "alt_id": [], "def": "Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.", "synonym": [], "xref": [ "UMLS:C4024631" ], "is_a": [ "HP:0002148" ], "is_obsolete": "", "replace_id": "" }, "HP:0008733": { "name": [ "dysplastic testes", "dysplastic testis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1837380" ], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0008734": { "name": [ "decreased testicular size", "decrease testicular size" ], "alt_id": [ "HP:0000043" ], "def": "Reduced volume of the testicle (the male gonad).", "synonym": [ [ "decreased testicular size", "decrease testicular size" ], [ "hypoplastic testes", "hypoplastic testis" ], [ "small testes", "small testis" ], [ "small testis", "small testis" ], [ "testicular hypoplasia", "testicular hypoplasia" ] ], "xref": [ "SNOMEDCT_US:276411001", "UMLS:C0241355" ], "is_a": [ "HP:0000050", "HP:0010468" ], "is_obsolete": "", "replace_id": "" }, "HP:0008736": { "name": [ "hypoplasia of penis", "hypoplasia of penis" ], "alt_id": [ "HP:0008632" ], "def": "", "synonym": [ [ "underdeveloped penis", "underdeveloped penis" ] ], "xref": [ "SNOMEDCT_US:34911001", "UMLS:C0266435" ], "is_a": [ "HP:0000036", "HP:0000050" ], "is_obsolete": "", "replace_id": "" }, "HP:0008738": { "name": [ "partially duplicated kidney", "partially duplicate kidney" ], "alt_id": [], "def": "The presence of a partially duplicated kidney.", "synonym": [ [ "partially duplicated kidney", "partially duplicate kidney" ] ], "xref": [ "UMLS:C4024630" ], "is_a": [ "HP:0000075" ], "is_obsolete": "", "replace_id": "" }, "HP:0008739": { "name": [ "labial pseudohypertrophy", "labial pseudohypertrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1835380" ], "is_a": [ "HP:0000065" ], "is_obsolete": "", "replace_id": "" }, "HP:0008740": { "name": [ "longitudinal vaginal septum", "longitudinal vaginal septum" ], "alt_id": [ "HP:0008698" ], "def": "The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.", "synonym": [ [ "vertical vaginal septum", "vertical vaginal septum" ] ], "xref": [ "UMLS:C1841680" ], "is_a": [ "HP:0001153" ], "is_obsolete": "", "replace_id": "" }, "HP:0008742": { "name": [ "prominent prostate median bar", "prominent prostate median bar" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024629" ], "is_a": [ "HP:0008775" ], "is_obsolete": "", "replace_id": "" }, "HP:0008743": { "name": [ "coronal hypospadias", "coronal hypospadias" ], "alt_id": [], "def": "A mild form of hypospadias in which the urethra opens just under the corona glandis.", "synonym": [ [ "subcoronal hypospadias", "subcoronal hypospadias" ] ], "xref": [ "SNOMEDCT_US:429641000124109", "UMLS:C1394030", "UMLS:C4020787" ], "is_a": [ "HP:0000047" ], "is_obsolete": "", "replace_id": "" }, "HP:0008744": { "name": [ "abnormal aryepiglottic fold morphology", "abnormal aryepiglottic fold morphology" ], "alt_id": [], "def": "An abnormality of the aryepiglottic fold.", "synonym": [ [ "abnormal aryepiglottic folds", "abnormal aryepiglottic fold" ], [ "abnormality of the aryepiglottic fold", "abnormality of the aryepiglottic fold" ] ], "xref": [ "UMLS:C1849357" ], "is_a": [ "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0008747": { "name": [ "cartilaginous ossification of larynx", "cartilaginous ossification of larynx" ], "alt_id": [], "def": "Ossification affecting the set of cartilages of larynx.", "synonym": [], "xref": [ "UMLS:C1855622" ], "is_a": [ "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0008749": { "name": [ "laryngeal hypoplasia", "laryngeal hypoplasia" ], "alt_id": [ "HP:0005935" ], "def": "Underdevelopment of the larynx.", "synonym": [ [ "hypoplastic larynx", "hypoplastic larynx" ] ], "xref": [ "SNOMEDCT_US:253736003", "UMLS:C0431527" ], "is_a": [ "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0008750": { "name": [ "laryngeal atresia", "laryngeal atresia" ], "alt_id": [], "def": "Congenital absence of the lumen of the larynx.", "synonym": [], "xref": [ "SNOMEDCT_US:64981002", "UMLS:C0265756" ], "is_a": [ "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0008751": { "name": [ "laryngeal cleft", "laryngeal cleft" ], "alt_id": [], "def": "Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus.", "synonym": [ [ "laryngotracheal cleft", "laryngotracheal cleft" ], [ "laryngotracheoesophageal cleft i", "laryngotracheoesophageal cleft i" ] ], "xref": [ "MSH:C537875", "SNOMEDCT_US:232461002", "UMLS:C1840311" ], "is_a": [ "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0008752": { "name": [ "laryngeal cartilage malformation", "laryngeal cartilage malformation" ], "alt_id": [ "HP:0008375" ], "def": "A malformation of the laryngeal cartilage.", "synonym": [ [ "vocal impairment , severe , due to laryngeal cartilage abnormalities", "vocal impairment , severe , due to laryngeal cartilage abnormality" ] ], "xref": [ "UMLS:C4021530" ], "is_a": [ "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0008753": { "name": [ "aplasia of the epiglottis", "aplasia of the epiglottis" ], "alt_id": [], "def": "Absence of the epiglottis.", "synonym": [ [ "absent epiglottis", "absent epiglottis" ] ], "xref": [ "UMLS:C4024628" ], "is_a": [ "HP:0010565" ], "is_obsolete": "", "replace_id": "" }, "HP:0008754": { "name": [ "laryngeal calcification", "laryngeal calcification" ], "alt_id": [ "HP:0008748" ], "def": "Calcification (abnormal deposits of calcium) in the laryngeal tissues.", "synonym": [ [ "laryngeal calcifications", "laryngeal calcification" ] ], "xref": [ "UMLS:C1859158" ], "is_a": [ "HP:0010766", "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0008755": { "name": [ "laryngotracheomalacia", "laryngotracheomalacia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:308232009", "UMLS:C0585984" ], "is_a": [ "HP:0002779" ], "is_obsolete": "", "replace_id": "" }, "HP:0008756": { "name": [ "bowing of the vocal cords", "bowing of the vocal cord" ], "alt_id": [], "def": "Bowing (abnormal curvature) of the vocal folds.", "synonym": [], "xref": [ "SNOMEDCT_US:232448002", "UMLS:C0396064" ], "is_a": [ "HP:0008777" ], "is_obsolete": "", "replace_id": "" }, "HP:0008757": { "name": [ "unilateral vocal cord paralysis", "unilateral vocal cord paralysis" ], "alt_id": [], "def": "A loss of the ability to move the vocal fold on one side.", "synonym": [ [ "unilateral paralysis of the vocal cord", "unilateral paralysis of the vocal cord" ] ], "xref": [ "MSH:D014826", "UMLS:C0751575" ], "is_a": [ "HP:0001605" ], "is_obsolete": "", "replace_id": "" }, "HP:0008760": { "name": [ "violent behavior", "violent behavior" ], "alt_id": [], "def": "", "synonym": [ [ "violent behavior", "violent behavior" ], [ "violent behaviour", "violent behaviour" ] ], "xref": [ "SNOMEDCT_US:248004009", "UMLS:C0424323" ], "is_a": [ "HP:0006919" ], "is_obsolete": "", "replace_id": "" }, "HP:0008762": { "name": [ "repetitive compulsive behavior", "repetitive compulsive behavior" ], "alt_id": [], "def": "", "synonym": [ [ "repetitive compulsive behavior", "repetitive compulsive behavior" ], [ "repetitive compulsive behaviour", "repetitive compulsive behaviour" ] ], "xref": [ "UMLS:C1969697" ], "is_a": [ "HP:0000733" ], "is_obsolete": "", "replace_id": "" }, "HP:0008763": { "name": [ "no social interaction", "no social interaction" ], "alt_id": [], "def": "", "synonym": [ [ "no social interaction", "no social interaction" ] ], "xref": [ "UMLS:C1849683" ], "is_a": [ "HP:0000735" ], "is_obsolete": "", "replace_id": "" }, "HP:0008765": { "name": [ "auditory hallucinations", "auditory hallucination" ], "alt_id": [ "HP:0000714" ], "def": "The false perception of sound.", "synonym": [ [ "hallucinations of sound", "hallucination of sound" ], [ "hearing sounds", "hear sound" ] ], "xref": [ "MSH:D006212", "SNOMEDCT_US:45150006", "UMLS:C0233762" ], "is_a": [ "HP:0000738" ], "is_obsolete": "", "replace_id": "" }, "HP:0008767": { "name": [ "self - mutilation of tongue and lips due to involuntary movements", "self - mutilation of tongue and lip due to involuntary movement" ], "alt_id": [], "def": "", "synonym": [ [ "self - mutilation of tongue and lips due to involuntary movements", "self - mutilation of tongue and lip due to involuntary movement" ] ], "xref": [ "UMLS:C1860219" ], "is_a": [ "HP:0000742", "HP:0004305" ], "is_obsolete": "", "replace_id": "" }, "HP:0008768": { "name": [ "inappropriate sexual behavior", "inappropriate sexual behavior" ], "alt_id": [], "def": "", "synonym": [ [ "inappropriate sexual behavior", "inappropriate sexual behavior" ], [ "inappropriate sexual behaviour", "inappropriate sexual behaviour" ] ], "xref": [ "SNOMEDCT_US:248099006", "UMLS:C0474420" ], "is_a": [ "HP:0000719" ], "is_obsolete": "", "replace_id": "" }, "HP:0008770": { "name": [ "obsessive - compulsive trait", "obsessive - compulsive trait" ], "alt_id": [ "HP:0008761" ], "def": "The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.", "synonym": [ [ "obsessive - compulsive trait", "obsessive - compulsive trait" ], [ "obsessive - compulsive traits", "obsessive - compulsive trait" ] ], "xref": [ "UMLS:C1834433" ], "is_a": [ "HP:0000722" ], "is_obsolete": "", "replace_id": "" }, "HP:0008771": { "name": [ "aplasia / hypoplasia of the ear", "aplasia / hypoplasia of the ear" ], "alt_id": [], "def": "The presence of aplasia or developmental hypoplasia of the ear.", "synonym": [ [ "absent / small ear", "absent / small ear" ], [ "absent / underdeveloped ear", "absent / underdevelop ear" ] ], "xref": [ "UMLS:C4024627" ], "is_a": [ "HP:0031703" ], "is_obsolete": "", "replace_id": "" }, "HP:0008772": { "name": [ "aplasia / hypoplasia of the external ear", "aplasia / hypoplasia of the external ear" ], "alt_id": [], "def": "The presence of aplasia or developmental hypoplasia of all or part of the external ear.", "synonym": [ [ "absent / small external ear", "absent / small external ear" ], [ "absent / underdeveloped external ear", "absent / underdevelop external ear" ] ], "xref": [ "UMLS:C4024626" ], "is_a": [ "HP:0000356", "HP:0008771" ], "is_obsolete": "", "replace_id": "" }, "HP:0008773": { "name": [ "aplasia / hypoplasia of the middle ear", "aplasia / hypoplasia of the middle ear" ], "alt_id": [ "HP:0008533", "HP:0008548" ], "def": "Aplasia or developmental hypoplasia of all or part of the middle ear.", "synonym": [ [ "absent / small middle ear", "absent / small middle ear" ], [ "absent / underdeveloped middle ear", "absent / underdevelop middle ear" ], [ "hypoplastic / aplastic middle ear structures", "hypoplastic / aplastic middle ear structure" ], [ "middle ear hypoplasia / aplasia", "middle ear hypoplasia / aplasia" ] ], "xref": [ "UMLS:C4021529" ], "is_a": [ "HP:0008609", "HP:0008771" ], "is_obsolete": "", "replace_id": "" }, "HP:0008774": { "name": [ "aplasia / hypoplasia of the inner ear", "aplasia / hypoplasia of the inner ear" ], "alt_id": [], "def": "Aplasia or developmental hypoplasia of the inner ear.", "synonym": [ [ "absent / small inner ear", "absent / small inner ear" ], [ "absent / underdeveloped inner ear", "absent / underdevelop inner ear" ] ], "xref": [ "UMLS:C4024625" ], "is_a": [ "HP:0008771", "HP:0011390" ], "is_obsolete": "", "replace_id": "" }, "HP:0008775": { "name": [ "abnormal prostate morphology", "abnormal prostate morphology" ], "alt_id": [], "def": "An abnormality of the prostate.", "synonym": [ [ "abnormality of the prostate", "abnormality of the prostate" ] ], "xref": [ "UMLS:C0747987" ], "is_a": [ "HP:0000022" ], "is_obsolete": "", "replace_id": "" }, "HP:0008776": { "name": [ "abnormal renal artery morphology", "abnormal renal artery morphology" ], "alt_id": [], "def": "Any structural abnormality of the renal artery.", "synonym": [ [ "abnormal kidney artery", "abnormal kidney artery" ], [ "abnormality of the renal artery", "abnormality of the renal artery" ] ], "xref": [ "UMLS:C4024624" ], "is_a": [ "HP:0011004", "HP:0033836" ], "is_obsolete": "", "replace_id": "" }, "HP:0008777": { "name": [ "abnormal vocal cord morphology", "abnormal vocal cord morphology" ], "alt_id": [], "def": "An abnormality of the vocal cord.", "synonym": [ [ "abnormality of the vocal cords", "abnormality of the vocal cord" ] ], "xref": [ "UMLS:C0262665" ], "is_a": [ "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0008780": { "name": [ "congenital bilateral hip dislocation", "congenital bilateral hip dislocation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:10155006", "UMLS:C0158713" ], "is_a": [ "HP:0001374" ], "is_obsolete": "", "replace_id": "" }, "HP:0008783": { "name": [ "wide proximal femoral metaphysis", "wide proximal femoral metaphysis" ], "alt_id": [ "HP:0008790" ], "def": "Increased width of the proximal part of the shaft (metaphysis) of the femur.", "synonym": [ [ "wide metaphysis of innermost thighbone", "wide metaphysis of innermost thighbone" ] ], "xref": [ "UMLS:C4024623" ], "is_a": [ "HP:0006417", "HP:0006431" ], "is_obsolete": "", "replace_id": "" }, "HP:0008784": { "name": [ "wide capital femoral epiphyses", "wide capital femoral epiphysis" ], "alt_id": [], "def": "Abnormally wide morphology of the proximal epiphysis of the femur.", "synonym": [ [ "wide end part of innermost thighbone", "wide end part of innermost thighbone" ] ], "xref": [ "UMLS:C4024622" ], "is_a": [ "HP:0010574" ], "is_obsolete": "", "replace_id": "" }, "HP:0008785": { "name": [ "delayed ossification of pubic rami", "delay ossification of pubic ramus" ], "alt_id": [], "def": "Delayed maturation and calcification of the rami (branches) of the pubic bone.", "synonym": [], "xref": [ "UMLS:C1865363" ], "is_a": [ "HP:0009105" ], "is_obsolete": "", "replace_id": "" }, "HP:0008786": { "name": [ "iliac crest serration", "iliac crest serration" ], "alt_id": [ "HP:0008825" ], "def": "Irregularities of the iliac crest that produce the appearance of a lace border around it.", "synonym": [ [ "irregular lacy iliac crest", "irregular lacy iliac crest" ], [ "lacy appearance of iliac crest", "lacy appearance of iliac crest" ] ], "xref": [ "UMLS:C1857186" ], "is_a": [ "HP:0003796" ], "is_obsolete": "", "replace_id": "" }, "HP:0008788": { "name": [ "delayed pubic bone ossification", "delay pubic bone ossification" ], "alt_id": [ "HP:0008795", "HP:0008827" ], "def": "Delayed maturation and calcification of the pubic bone.", "synonym": [ [ "absent pubic ossification in infancy", "absent pubic ossification in infancy" ], [ "delayed maturation fo pubic bone", "delay maturation fo pubic bone" ], [ "delayed mineralization of pubic bone", "delay mineralization of pubic bone" ] ], "xref": [ "UMLS:C1861528", "UMLS:C1866710", "UMLS:C4280411" ], "is_a": [ "HP:0009105" ], "is_obsolete": "", "replace_id": "" }, "HP:0008789": { "name": [ "cone - shaped capital femoral epiphysis", "cone - shaped capital femoral epiphysis" ], "alt_id": [], "def": "A cone-shaped deformity of the proximal epiphysis of the femur.", "synonym": [ [ "cone - shaped end part of innermost thighbone", "cone - shaped end part of innermost thighbone" ] ], "xref": [ "UMLS:C1846157" ], "is_a": [ "HP:0010574", "HP:0010579" ], "is_obsolete": "", "replace_id": "" }, "HP:0008794": { "name": [ "dysplastic iliac wing", "dysplastic iliac wing" ], "alt_id": [], "def": "A general term that describes a congenital defect in the iliac wing resulting from abnormal development.", "synonym": [ [ "dysplastic iliac wings", "dysplastic iliac wing" ] ], "xref": [ "UMLS:C1837487" ], "is_a": [ "HP:0011867" ], "is_obsolete": "", "replace_id": "" }, "HP:0008796": { "name": [ "externally rotated hips", "externally rotate hip" ], "alt_id": [], "def": "", "synonym": [ [ "externally rotated hips", "externally rotate hip" ] ], "xref": [ "UMLS:C1846339" ], "is_a": [ "HP:0003783" ], "is_obsolete": "", "replace_id": "" }, "HP:0008797": { "name": [ "early ossification of capital femoral epiphyses", "early ossification of capital femoral epiphysis" ], "alt_id": [], "def": "Developmental acceleration of ossification of the proximal epiphysis of the femur.", "synonym": [], "xref": [ "UMLS:C4024621" ], "is_a": [ "HP:0009107", "HP:0010574", "HP:0010656" ], "is_obsolete": "", "replace_id": "" }, "HP:0008798": { "name": [ "widened greater sciatic notch", "widen great sciatic notch" ], "alt_id": [ "HP:0010457" ], "def": "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch.", "synonym": [ [ "widened sacrosciatic notch", "widen sacrosciatic notch" ], [ "widening of the sacrosciatic notch", "widening of the sacrosciatic notch" ] ], "xref": [ "UMLS:C4024620" ], "is_a": [ "HP:0010456" ], "is_obsolete": "", "replace_id": "" }, "HP:0008800": { "name": [ "limited hip movement", "limited hip movement" ], "alt_id": [], "def": "A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.", "synonym": [ [ "limited hip movement", "limited hip movement" ] ], "xref": [ "UMLS:C1851542" ], "is_a": [ "HP:0001376" ], "is_obsolete": "", "replace_id": "" }, "HP:0008801": { "name": [ "hypoplasia of the lesser trochanter", "hypoplasia of the less trochanter" ], "alt_id": [], "def": "Underdevelopment of the lesser trochanter.", "synonym": [ [ "lesser trochanter hypoplasia", "less trochanter hypoplasia" ] ], "xref": [ "UMLS:C1840062" ], "is_a": [ "HP:0003366" ], "is_obsolete": "", "replace_id": "" }, "HP:0008802": { "name": [ "hypoplasia of the femoral head", "hypoplasia of the femoral head" ], "alt_id": [ "HP:0008831" ], "def": "Underdevelopment of the femoral head.", "synonym": [ [ "hypoplastic femoral head", "hypoplastic femoral head" ], [ "small femoral heads", "small femoral head" ], [ "small head of thigh bone", "small head of thigh bone" ] ], "xref": [ "UMLS:C1856920" ], "is_a": [ "HP:0003368", "HP:0009108" ], "is_obsolete": "", "replace_id": "" }, "HP:0008803": { "name": [ "obsolete narrow sacroiliac notch", "obsolete narrow sacroiliac notch" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0003375" }, "HP:0008804": { "name": [ "broad femoral head", "broad femoral head" ], "alt_id": [], "def": "Increased width of the femoral head.", "synonym": [ [ "wide head of thigh bone", "wide head of thigh bone" ] ], "xref": [ "UMLS:C4024619" ], "is_a": [ "HP:0003368" ], "is_obsolete": "", "replace_id": "" }, "HP:0008807": { "name": [ "acetabular dysplasia", "acetabular dysplasia" ], "alt_id": [ "HP:0008799" ], "def": "The presence of developmental dysplasia of the acetabular part of hip bone.", "synonym": [ [ "dysplastic acetabulae", "dysplastic acetabulae" ] ], "xref": [ "MSH:D006617", "UMLS:C1328407" ], "is_a": [ "HP:0003170" ], "is_obsolete": "", "replace_id": "" }, "HP:0008808": { "name": [ "high iliac wing", "high iliac wing" ], "alt_id": [ "HP:0008778" ], "def": "Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).", "synonym": [ [ "high iliac wings", "high iliac wing" ], [ "narrow , high iliac wings", "narrow , high iliac wing" ] ], "xref": [ "UMLS:C1969680" ], "is_a": [ "HP:0011867" ], "is_obsolete": "", "replace_id": "" }, "HP:0008812": { "name": [ "flattened femoral head", "flatten femoral head" ], "alt_id": [], "def": "An abnormally flattened femoral head.", "synonym": [ [ "flat head of thigh bone", "flat head of thigh bone" ], [ "flattened femoral heads", "flatten femoral head" ] ], "xref": [ "UMLS:C1860601" ], "is_a": [ "HP:0003368" ], "is_obsolete": "", "replace_id": "" }, "HP:0008817": { "name": [ "aplastic pubic bones", "aplastic pubic bone" ], "alt_id": [], "def": "", "synonym": [ [ "absent pubic bones", "absent pubic bone" ] ], "xref": [ "UMLS:C1848660" ], "is_a": [ "HP:0009104" ], "is_obsolete": "", "replace_id": "" }, "HP:0008818": { "name": [ "large iliac wing", "large iliac wing" ], "alt_id": [], "def": "Increased size of the ilium ala.", "synonym": [ [ "large iliac wings", "large iliac wing" ] ], "xref": [ "UMLS:C4024618" ], "is_a": [ "HP:0011867" ], "is_obsolete": "", "replace_id": "" }, "HP:0008819": { "name": [ "narrow femoral neck", "narrow femoral neck" ], "alt_id": [], "def": "An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).", "synonym": [ [ "narrow femoral necks", "narrow femoral neck" ], [ "narrow neck of thigh bone", "narrow neck of thigh bone" ] ], "xref": [ "UMLS:C1863739" ], "is_a": [ "HP:0003367" ], "is_obsolete": "", "replace_id": "" }, "HP:0008820": { "name": [ "absent ossification of capital femoral epiphysis", "absent ossification of capital femoral epiphysis" ], "alt_id": [], "def": "Lack of ossification of the proximal epiphysis of the femur.", "synonym": [ [ "absent ossification of femoral capital epiphyses", "absent ossification of femoral capital epiphysis" ] ], "xref": [ "UMLS:C1968686" ], "is_a": [ "HP:0005003", "HP:0009107", "HP:0010656" ], "is_obsolete": "", "replace_id": "" }, "HP:0008821": { "name": [ "hypoplastic inferior ilia", "hypoplastic inferior ilium" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1837078" ], "is_a": [ "HP:0000946" ], "is_obsolete": "", "replace_id": "" }, "HP:0008822": { "name": [ "hypoplastic ischiopubic rami", "hypoplastic ischiopubic ramus" ], "alt_id": [], "def": "Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium.", "synonym": [], "xref": [ "UMLS:C4024617" ], "is_a": [ "HP:0003173", "HP:0003175" ], "is_obsolete": "", "replace_id": "" }, "HP:0008823": { "name": [ "hypoplastic inferior pubic rami", "hypoplastic inferior pubic ramus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1853573" ], "is_a": [ "HP:0003173" ], "is_obsolete": "", "replace_id": "" }, "HP:0008824": { "name": [ "hypoplastic iliac body", "hypoplastic iliac body" ], "alt_id": [ "HP:0005740" ], "def": "Underdevelopment of the body of ilium.", "synonym": [ [ "hypoplastic iliac bodies", "hypoplastic iliac body" ], [ "small iliac bodies", "small iliac body" ] ], "xref": [ "UMLS:C1849034" ], "is_a": [ "HP:0000946" ], "is_obsolete": "", "replace_id": "" }, "HP:0008826": { "name": [ "dislocation of the femoral head", "dislocation of the femoral head" ], "alt_id": [], "def": "Joint dislocation of the femoral head.", "synonym": [ [ "dislocated femoral heads", "dislocate femoral head" ], [ "dislocated head of thigh bone", "dislocate head of thigh bone" ] ], "xref": [ "UMLS:C1859446" ], "is_a": [ "HP:0003368", "HP:0030311" ], "is_obsolete": "", "replace_id": "" }, "HP:0008828": { "name": [ "delayed proximal femoral epiphyseal ossification", "delay proximal femoral epiphyseal ossification" ], "alt_id": [], "def": "Developmental delay of ossification of the proximal epiphysis of the femur.", "synonym": [ [ "delayed ossification of the proximal femoral epiphysis", "delay ossification of the proximal femoral epiphysis" ], [ "delayed ossification proximal femoral epiphyses", "delay ossification proximal femoral epiphysis" ] ], "xref": [ "UMLS:C1855222" ], "is_a": [ "HP:0002663", "HP:0009107", "HP:0010574" ], "is_obsolete": "", "replace_id": "" }, "HP:0008829": { "name": [ "delayed femoral head ossification", "delay femoral head ossification" ], "alt_id": [], "def": "Delayed ossification of the femoral head.", "synonym": [ [ "delayed maturation of the head of the thigh bone", "delay maturation of the head of the thigh bone" ] ], "xref": [ "UMLS:C1846446", "UMLS:C4280410" ], "is_a": [ "HP:0003368", "HP:0009107" ], "is_obsolete": "", "replace_id": "" }, "HP:0008830": { "name": [ "hypoplastic pubic rami", "hypoplastic pubic ramus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1969176" ], "is_a": [ "HP:0003173" ], "is_obsolete": "", "replace_id": "" }, "HP:0008833": { "name": [ "irregular acetabular roof", "irregular acetabular roof" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1834975" ], "is_a": [ "HP:0003170" ], "is_obsolete": "", "replace_id": "" }, "HP:0008835": { "name": [ "multicentric femoral head ossification", "multicentric femoral head ossification" ], "alt_id": [], "def": "There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers.", "synonym": [], "xref": [ "UMLS:C1846447" ], "is_a": [ "HP:0009107" ], "is_obsolete": "", "replace_id": "" }, "HP:0008838": { "name": [ "stippled calcification proximal humeral epiphyses", "stipple calcification proximal humeral epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "speckled calcifications in end part of innermost long bone of upper arm", "speckled calcification in end part of innermost long bone of upper arm" ] ], "xref": [ "UMLS:C1857243" ], "is_a": [ "HP:0003901" ], "is_obsolete": "", "replace_id": "" }, "HP:0008839": { "name": [ "hypoplastic pelvis", "hypoplastic pelvis" ], "alt_id": [ "HP:0003373", "HP:0008816" ], "def": "Underdevelopment of the bony pelvis.", "synonym": [ [ "hypoplastic pelvic bones", "hypoplastic pelvic bone" ], [ "small pelvis", "small pelvis" ] ], "xref": [ "UMLS:C3536734" ], "is_a": [ "HP:0009103" ], "is_obsolete": "", "replace_id": "" }, "HP:0008843": { "name": [ "hip osteoarthritis", "hip osteoarthritis" ], "alt_id": [ "HP:0008809" ], "def": "", "synonym": [ [ "osteoarthritis of hip", "osteoarthritis of hip" ] ], "xref": [ "MSH:D015207", "SNOMEDCT_US:239872002", "UMLS:C0029410" ], "is_a": [ "HP:0002758" ], "is_obsolete": "", "replace_id": "" }, "HP:0008845": { "name": [ "mesomelic short stature", "mesomelic short stature" ], "alt_id": [ "HP:0008896", "HP:0008903", "HP:0008910" ], "def": "A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).", "synonym": [ [ "dwarfism , short limb mesomelic", "dwarfism , short limb mesomelic" ], [ "mesomelic dwarfism", "mesomelic dwarfism" ], [ "short stature , disproportionate mesomelic", "short stature , disproportionate mesomelic" ], [ "short stature , mesomelic", "short stature , mesomelic" ] ], "xref": [ "UMLS:C1855274" ], "is_a": [ "HP:0008873" ], "is_obsolete": "", "replace_id": "" }, "HP:0008846": { "name": [ "severe intrauterine growth retardation", "severe intrauterine growth retardation" ], "alt_id": [ "HP:0008899", "HP:0008906" ], "def": "Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.", "synonym": [ [ "intrauterine growth retardation , severe", "intrauterine growth retardation , severe" ], [ "severe prenatal growth deficiency", "severe prenatal growth deficiency" ] ], "xref": [ "UMLS:C1855843" ], "is_a": [ "HP:0001511" ], "is_obsolete": "", "replace_id": "" }, "HP:0008848": { "name": [ "moderately short stature", "moderately short stature" ], "alt_id": [ "HP:0008891" ], "def": "A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.", "synonym": [ [ "moderate short stature", "moderate short stature" ], [ "short stature , moderate", "short stature , moderate" ] ], "xref": [ "UMLS:C1861519" ], "is_a": [ "HP:0003508" ], "is_obsolete": "", "replace_id": "" }, "HP:0008850": { "name": [ "severe postnatal growth retardation", "severe postnatal growth retardation" ], "alt_id": [ "HP:0001521", "HP:0008854", "HP:0008911", "HP:0008932" ], "def": "Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.", "synonym": [ [ "marked growth retardation", "marked growth retardation" ], [ "severe growth delay in children", "severe growth delay in child" ], [ "severe postnatal growth deficiency", "severe postnatal growth deficiency" ], [ "severe postnatal growth failure", "severe postnatal growth failure" ] ], "xref": [ "UMLS:C1857641" ], "is_a": [ "HP:0008897" ], "is_obsolete": "", "replace_id": "" }, "HP:0008855": { "name": [ "moderate postnatal growth retardation", "moderate postnatal growth retardation" ], "alt_id": [], "def": "A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.", "synonym": [ [ "moderate growth delay in children", "moderate growth delay in child" ] ], "xref": [ "UMLS:C4024616" ], "is_a": [ "HP:0008897" ], "is_obsolete": "", "replace_id": "" }, "HP:0008857": { "name": [ "neonatal short - trunk short stature", "neonatal short - trunk short stature" ], "alt_id": [], "def": "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth.", "synonym": [ [ "short - trunk dwarfism identifiable at birth", "short - trunk dwarfism identifiable at birth" ] ], "xref": [ "UMLS:C3149908" ], "is_a": [ "HP:0003521" ], "is_obsolete": "", "replace_id": "" }, "HP:0008866": { "name": [ "failure to thrive secondary to recurrent infections", "failure to thrive secondary to recurrent infection" ], "alt_id": [], "def": "Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.", "synonym": [ [ "faltering weight secondary to recurrent infections", "falter weight secondary to recurrent infection" ], [ "weight faltering secondary to recurrent infections", "weight falter secondary to recurrent infection" ] ], "xref": [ "UMLS:C1832323" ], "is_a": [ "HP:0001508", "HP:0002719", "HP:0032169" ], "is_obsolete": "", "replace_id": "" }, "HP:0008872": { "name": [ "feeding difficulties in infancy", "feed difficulty in infancy" ], "alt_id": [ "HP:0002016", "HP:0002022", "HP:0002568" ], "def": "Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.", "synonym": [], "xref": [ "UMLS:C2674608" ], "is_a": [ "HP:0011968" ], "is_obsolete": "", "replace_id": "" }, "HP:0008873": { "name": [ "disproportionate short - limb short stature", "disproportionate short - limb short stature" ], "alt_id": [ "HP:0001523", "HP:0003505", "HP:0003509", "HP:0008858", "HP:0008869", "HP:0008875", "HP:0008880", "HP:0008881", "HP:0008889", "HP:0008912", "HP:0008914", "HP:0008928" ], "def": "A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.", "synonym": [ [ "brachymelic dwarfism", "brachymelic dwarfism" ], [ "disproportionate short limb dwarfism", "disproportionate short limb dwarfism" ], [ "dwarfism , short - limbed", "dwarfism , short - limbed" ], [ "micromelic dwarfism", "micromelic dwarfism" ], [ "short limb dwarfism", "short limb dwarfism" ], [ "short limb dwarfism , disproportionate", "short limb dwarfism , disproportionate" ], [ "short stature , disproportionate short limb", "short stature , disproportionate short limb" ], [ "short stature , disproportionate short - limb", "short stature , disproportionate short - limb" ], [ "short - limb dwarfism", "short - limb dwarfism" ], [ "short - limbed dwarfism", "short - limbed dwarfism" ] ], "xref": [ "UMLS:C1849937" ], "is_a": [ "HP:0003498" ], "is_obsolete": "", "replace_id": "" }, "HP:0008883": { "name": [ "mild intrauterine growth retardation", "mild intrauterine growth retardation" ], "alt_id": [ "HP:0008861" ], "def": "Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age.", "synonym": [ [ "mild prenatal growth deficiency", "mild prenatal growth deficiency" ] ], "xref": [ "UMLS:C1840006" ], "is_a": [ "HP:0001511" ], "is_obsolete": "", "replace_id": "" }, "HP:0008887": { "name": [ "adipose tissue loss", "adipose tissue loss" ], "alt_id": [ "HP:0008938" ], "def": "A loss of adipose tissue.", "synonym": [ [ "loss of fat tissue", "loss of fat tissue" ] ], "xref": [ "UMLS:C4024615" ], "is_a": [ "HP:0040063" ], "is_obsolete": "", "replace_id": "" }, "HP:0008890": { "name": [ "severe short - limb dwarfism", "severe short - limb dwarfism" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1860105" ], "is_a": [ "HP:0008873" ], "is_obsolete": "", "replace_id": "" }, "HP:0008897": { "name": [ "postnatal growth retardation", "postnatal growth retardation" ], "alt_id": [ "HP:0008844", "HP:0008865", "HP:0008868", "HP:0008901", "HP:0008918" ], "def": "Slow or limited growth after birth.", "synonym": [ [ "growth delay as children", "growth delay as child" ], [ "growth retardation as children", "growth retardation as child" ], [ "postnatal growth deceleration", "postnatal growth deceleration" ], [ "postnatal growth deficiency", "postnatal growth deficiency" ], [ "postnatal growth failure", "postnatal growth failure" ] ], "xref": [ "UMLS:C1859778" ], "is_a": [ "HP:0001510" ], "is_obsolete": "", "replace_id": "" }, "HP:0008905": { "name": [ "rhizomelia", "rhizomelia" ], "alt_id": [ "HP:0002968", "HP:0003520", "HP:0008852", "HP:0008877" ], "def": "Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).", "synonym": [ [ "disproportionately short upper portion of limb", "disproportionately short upper portion of limb" ], [ "rhizomelic dwarfism", "rhizomelic dwarfism" ], [ "rhizomelic limb shortening", "rhizomelic limb shorten" ], [ "rhizomelic short limbs", "rhizomelic short limb" ], [ "rhizomelic short stature", "rhizomelic short stature" ], [ "rhizomelic shortening", "rhizomelic shortening" ], [ "short stature , rhizomelic", "short stature , rhizomelic" ], [ "symmetrical rhizomelic limb shortening", "symmetrical rhizomelic limb shorten" ] ], "xref": [ "UMLS:C1866730" ], "is_a": [ "HP:0008873", "HP:0009826" ], "is_obsolete": "", "replace_id": "" }, "HP:0008909": { "name": [ "lethal short - limbed short stature", "lethal short - limbed short stature" ], "alt_id": [ "HP:0003506" ], "def": "", "synonym": [ [ "lethal micromelic dwarfism", "lethal micromelic dwarfism" ], [ "lethal short - limbed dwarfism", "lethal short - limbed dwarfism" ] ], "xref": [ "UMLS:C2674171" ], "is_a": [ "HP:0008873" ], "is_obsolete": "", "replace_id": "" }, "HP:0008915": { "name": [ "childhood - onset truncal obesity", "childhood - onset truncal obesity" ], "alt_id": [ "HP:0008874" ], "def": "Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.", "synonym": [ [ "truncal obesity apparent in childhood", "truncal obesity apparent in childhood" ] ], "xref": [ "UMLS:C1859846" ], "is_a": [ "HP:0001956" ], "is_obsolete": "", "replace_id": "" }, "HP:0008921": { "name": [ "neonatal short - limb short stature", "neonatal short - limb short stature" ], "alt_id": [ "HP:0001536", "HP:0008894", "HP:0008902", "HP:0008924" ], "def": "A type of short-limbed dwarfism that is manifest beginning in the neonatal period.", "synonym": [ [ "dwarfism , neonatal short - limbed", "dwarfism , neonatal short - limbed" ], [ "neonatal short - limbed dwarfism", "neonatal short - limbed dwarfism" ], [ "short limb dwarfism recognisable at birth", "short limb dwarfism recognisable at birth" ], [ "short limb dwarfism recognizable at birth", "short limb dwarfism recognizable at birth" ], [ "short - limb dwarfism identifiable at birth", "short - limb dwarfism identifiable at birth" ], [ "short - limb dwarfism identifiable neonatally", "short - limb dwarfism identifiable neonatally" ], [ "short - limbed dwarfism identifiable at birth", "short - limbed dwarfism identifiable at birth" ] ], "xref": [ "UMLS:C1850171" ], "is_a": [ "HP:0008873" ], "is_obsolete": "", "replace_id": "" }, "HP:0008922": { "name": [ "childhood - onset short - trunk short stature", "childhood - onset short - trunk short stature" ], "alt_id": [ "HP:0003522" ], "def": "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.", "synonym": [ [ "childhood - onset short - trunk short stature", "childhood - onset short - trunk short stature" ], [ "disproportionate short - trunk short stature , identifiable in childhood", "disproportionate short - trunk short stature , identifiable in childhood" ], [ "short - trunk dwarfism identifiable during childhood", "short - trunk dwarfism identifiable during childhood" ] ], "xref": [ "UMLS:C3148833" ], "is_a": [ "HP:0003521" ], "is_obsolete": "", "replace_id": "" }, "HP:0008929": { "name": [ "asymmetric short stature", "asymmetric short stature" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024614" ], "is_a": [ "HP:0004322" ], "is_obsolete": "", "replace_id": "" }, "HP:0008935": { "name": [ "generalized neonatal hypotonia", "generalize neonatal hypotonia" ], "alt_id": [], "def": "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.", "synonym": [ [ "generalised low muscle tone in neonate", "generalise low muscle tone in neonate" ], [ "generalised neonatal hypotonia", "generalise neonatal hypotonia" ], [ "generalized low muscle tone in neonate", "generalize low muscle tone in neonate" ], [ "hypotonia , neonatal , generalised", "hypotonia , neonatal , generalise" ], [ "hypotonia , neonatal , generalized", "hypotonia , neonatal , generalize" ] ], "xref": [ "UMLS:C1845123" ], "is_a": [ "HP:0001319" ], "is_obsolete": "", "replace_id": "" }, "HP:0008936": { "name": [ "muscular hypotonia of the trunk", "muscular hypotonia of the trunk" ], "alt_id": [ "HP:0002320" ], "def": "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.", "synonym": [ [ "axial hypotonia", "axial hypotonia" ], [ "low muscle tone in trunk", "low muscle tone in trunk" ], [ "truncal hypotonia", "truncal hypotonia" ] ], "xref": [ "UMLS:C1853743" ], "is_a": [ "HP:0001252" ], "is_obsolete": "", "replace_id": "" }, "HP:0008940": { "name": [ "generalized lymphadenopathy", "generalize lymphadenopathy" ], "alt_id": [], "def": "A generalized form of lymphadenopathy.", "synonym": [ [ "generalised lymphadenopathy", "generalise lymphadenopathy" ], [ "generalised swelling of lymph nodes", "generalised swelling of lymph node" ], [ "generalized swelling of lymph nodes", "generalize swelling of lymph node" ], [ "swollen lymph nodes affecting all regions of the body", "swollen lymph node affect all region of the body" ] ], "xref": [ "SNOMEDCT_US:274741002", "UMLS:C0476486" ], "is_a": [ "HP:0002716" ], "is_obsolete": "", "replace_id": "" }, "HP:0008942": { "name": [ "acute rhabdomyolysis", "acute rhabdomyolysis" ], "alt_id": [], "def": "An acute form of rhabdomyolysis.", "synonym": [ [ "rhabdomyolysis , acute", "rhabdomyolysis , acute" ] ], "xref": [ "UMLS:C3807306" ], "is_a": [ "HP:0003201" ], "is_obsolete": "", "replace_id": "" }, "HP:0008944": { "name": [ "distal lower limb amyotrophy", "distal low limb amyotrophy" ], "alt_id": [ "HP:0003442", "HP:0003714", "HP:0006975", "HP:0008949", "HP:0009001" ], "def": "Muscular atrophy of distal leg muscles.", "synonym": [ [ "lower leg amyotrophy", "low leg amyotrophy" ], [ "lower limb atrophy", "low limb atrophy" ], [ "lower limb degeneration", "low limb degeneration" ], [ "lower limb muscle hypotrophy", "low limb muscle hypotrophy" ], [ "muscle atrophy , lower limb , distal", "muscle atrophy , low limb , distal" ] ], "xref": [ "UMLS:C1836451", "UMLS:C1866863", "UMLS:C3806644" ], "is_a": [ "HP:0003693", "HP:0007210" ], "is_obsolete": "", "replace_id": "" }, "HP:0008945": { "name": [ "loss of ability to walk in early childhood", "loss of ability to walk in early childhood" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1835993" ], "is_a": [ "HP:0002505" ], "is_obsolete": "", "replace_id": "" }, "HP:0008946": { "name": [ "pelvic girdle amyotrophy", "pelvic girdle amyotrophy" ], "alt_id": [], "def": "Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.", "synonym": [ [ "hip girdle amyotrophy", "hip girdle amyotrophy" ] ], "xref": [ "UMLS:C4021528" ], "is_a": [ "HP:0003797" ], "is_obsolete": "", "replace_id": "" }, "HP:0008947": { "name": [ "infantile muscular hypotonia", "infantile muscular hypotonia" ], "alt_id": [ "HP:0002449", "HP:0002523", "HP:0010572" ], "def": "Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.", "synonym": [ [ "decreased muscle tone in infant", "decreased muscle tone in infant" ], [ "hypotonia early", "hypotonia early" ], [ "hypotonia in infancy", "hypotonia in infancy" ], [ "hypotonia , early", "hypotonia , early" ], [ "infantile hypotonia", "infantile hypotonia" ] ], "xref": [ "UMLS:C1860834" ], "is_a": [ "HP:0001252" ], "is_obsolete": "", "replace_id": "" }, "HP:0008948": { "name": [ "proximal upper limb amyotrophy", "proximal upper limb amyotrophy" ], "alt_id": [ "HP:0008995" ], "def": "Muscular atrophy affecting proximally located muscles of the arms.", "synonym": [ [ "proximal muscle atrophy in upper limbs", "proximal muscle atrophy in upper limb" ], [ "proximal upper limb muscle atrophy", "proximal upper limb muscle atrophy" ] ], "xref": [ "UMLS:C1866013" ], "is_a": [ "HP:0001457", "HP:0007126" ], "is_obsolete": "", "replace_id": "" }, "HP:0008952": { "name": [ "shoulder muscle hypoplasia", "shoulder muscle hypoplasia" ], "alt_id": [], "def": "Underdevelopment of muscles of the shoulder.", "synonym": [ [ "underdeveloped shoulder muscle", "underdeveloped shoulder muscle" ] ], "xref": [ "UMLS:C1969001" ], "is_a": [ "HP:0001464", "HP:0009004" ], "is_obsolete": "", "replace_id": "" }, "HP:0008953": { "name": [ "pectoralis major hypoplasia", "pectoralis major hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the pectoralis major.", "synonym": [ [ "pectoralis major muscle hypoplasia", "pectoralis major muscle hypoplasia" ] ], "xref": [ "UMLS:C1840086" ], "is_a": [ "HP:0011957" ], "is_obsolete": "", "replace_id": "" }, "HP:0008954": { "name": [ "intrinsic hand muscle atrophy", "intrinsic hand muscle atrophy" ], "alt_id": [], "def": "Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.", "synonym": [], "xref": [ "UMLS:C1864716" ], "is_a": [ "HP:0009130" ], "is_obsolete": "", "replace_id": "" }, "HP:0008955": { "name": [ "progressive distal muscular atrophy", "progressive distal muscular atrophy" ], "alt_id": [], "def": "Progressive muscular atrophy affecting muscles in the distal portions of the extremities.", "synonym": [], "xref": [ "UMLS:C4024613" ], "is_a": [ "HP:0003693" ], "is_obsolete": "", "replace_id": "" }, "HP:0008956": { "name": [ "proximal lower limb amyotrophy", "proximal low limb amyotrophy" ], "alt_id": [ "HP:0003748", "HP:0008974" ], "def": "Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.", "synonym": [ [ "amyotrophy involving the thigh", "amyotrophy involve the thigh" ], [ "amyotrophy of the thigh musculature", "amyotrophy of the thigh musculature" ], [ "proximal lower limb muscle atrophy", "proximal low limb muscle atrophy" ], [ "thigh muscle atrophy", "thigh muscle atrophy" ], [ "wasting of thigh muscle", "wasting of thigh muscle" ] ], "xref": [ "UMLS:C1836767" ], "is_a": [ "HP:0001441", "HP:0007126" ], "is_obsolete": "", "replace_id": "" }, "HP:0008959": { "name": [ "distal upper limb muscle weakness", "distal upper limb muscle weakness" ], "alt_id": [], "def": "Reduced strength of the distal musculature of the arms.", "synonym": [], "xref": [ "UMLS:C3150620" ], "is_a": [ "HP:0002460", "HP:0002817" ], "is_obsolete": "", "replace_id": "" }, "HP:0008962": { "name": [ "calf muscle hypoplasia", "calf muscle hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the muscuklature of the calf.", "synonym": [ [ "hypoplastic calf muscles", "hypoplastic calf muscle" ], [ "underdeveloped calf muscles", "underdeveloped calf muscle" ] ], "xref": [ "UMLS:C3805450" ], "is_a": [ "HP:0001430", "HP:0009004" ], "is_obsolete": "", "replace_id": "" }, "HP:0008963": { "name": [ "tibialis muscle weakness", "tibialis muscle weakness" ], "alt_id": [], "def": "Muscle weakness affecting the tibialis anterior muscle.", "synonym": [], "xref": [ "UMLS:C4024612" ], "is_a": [ "HP:0009053" ], "is_obsolete": "", "replace_id": "" }, "HP:0008964": { "name": [ "nonprogressive muscular atrophy", "nonprogressive muscular atrophy" ], "alt_id": [], "def": "Muscular atrophy that does not display a progression in severity with time.", "synonym": [], "xref": [ "UMLS:C4024611" ], "is_a": [ "HP:0003202" ], "is_obsolete": "", "replace_id": "" }, "HP:0008967": { "name": [ "exercise - induced muscle stiffness", "exercise - induced muscle stiffness" ], "alt_id": [ "HP:0003633" ], "def": "A type of muscle stiffness that occurs following physical exertion.", "synonym": [ [ "exercise - induced muscle stiffness", "exercise - induced muscle stiffness" ], [ "muscle stiffness with exercise", "muscle stiffness with exercise" ], [ "muscle stiffness , exercise - induced", "muscle stiffness , exercise - induced" ] ], "xref": [ "UMLS:C1855579" ], "is_a": [ "HP:0003552" ], "is_obsolete": "", "replace_id": "" }, "HP:0008968": { "name": [ "muscle hypertrophy of the lower extremities", "muscle hypertrophy of the low extremity" ], "alt_id": [], "def": "Muscle hypertrophy primarily affecting the legs.", "synonym": [], "xref": [ "UMLS:C1850663" ], "is_a": [ "HP:0001437", "HP:0003712" ], "is_obsolete": "", "replace_id": "" }, "HP:0008969": { "name": [ "leg muscle stiffness", "leg muscle stiffness" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024610" ], "is_a": [ "HP:0001437", "HP:0003552" ], "is_obsolete": "", "replace_id": "" }, "HP:0008970": { "name": [ "scapulohumeral muscular dystrophy", "scapulohumeral muscular dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C562932", "SNOMEDCT_US:240074006", "UMLS:C0410192" ], "is_a": [ "HP:0003560" ], "is_obsolete": "", "replace_id": "" }, "HP:0008972": { "name": [ "decreased activity of mitochondrial respiratory chain", "decreased activity of mitochondrial respiratory chain" ], "alt_id": [], "def": "Decreased activity of the mitochondrial respiratory chain.", "synonym": [ [ "decreased activities of mitochondrial - encoded respiratory chain complexes", "decreased activity of mitochondrial - encoded respiratory chain complex" ], [ "decreased activity of mitochondrial respiratory complexes", "decreased activity of mitochondrial respiratory complex" ] ], "xref": [ "UMLS:C1835995", "UMLS:C3276441", "UMLS:C4024609" ], "is_a": [ "HP:0011922" ], "is_obsolete": "", "replace_id": "" }, "HP:0008978": { "name": [ "necrotizing myopathy", "necrotizing myopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024608" ], "is_a": [ "HP:0003198" ], "is_obsolete": "", "replace_id": "" }, "HP:0008981": { "name": [ "calf muscle hypertrophy", "calf muscle hypertrophy" ], "alt_id": [ "HP:0003703", "HP:0009024" ], "def": "Muscle hypertrophy affecting the calf muscles.", "synonym": [ [ "calf hypertrophy", "calf hypertrophy" ], [ "increased size of calf muscles", "increase size of calf muscle" ], [ "muscular hypertrophy of the calf muscles", "muscular hypertrophy of the calf muscle" ] ], "xref": [ "UMLS:C1843057" ], "is_a": [ "HP:0001430", "HP:0008968" ], "is_obsolete": "", "replace_id": "" }, "HP:0008984": { "name": [ "neck muscle hypoplasia", "neck muscle hypoplasia" ], "alt_id": [], "def": "Underdevelopment of muscles of the neck.", "synonym": [ [ "decreased size of neck muscle", "decreased size of neck muscle" ], [ "deficiency of neck muscle", "deficiency of neck muscle" ], [ "hypotrophic neck muscle", "hypotrophic neck muscle" ], [ "small neck muscle", "small neck muscle" ], [ "underdevelopment of neck muscle", "underdevelopment of neck muscle" ] ], "xref": [ "UMLS:C1969000", "UMLS:C4280408", "UMLS:C4280409" ], "is_a": [ "HP:0000464", "HP:0009004" ], "is_obsolete": "", "replace_id": "" }, "HP:0008985": { "name": [ "increased intramuscular fat", "increase intramuscular fat" ], "alt_id": [], "def": "An abnormal increase in the amount of intramuscular fat tissue.", "synonym": [ [ "increased im fat", "increase im fat" ], [ "increased intramuscular fat", "increase intramuscular fat" ] ], "xref": [ "UMLS:C1835389" ], "is_a": [ "HP:0009126", "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0008986": { "name": [ "agenesis of the diaphragm", "agenesis of the diaphragm" ], "alt_id": [], "def": "Congenital lack, i.e., aplasia of the diaphragm.", "synonym": [ [ "absent diaphragm", "absent diaphragm" ], [ "agenesis of diaphragm", "agenesis of diaphragm" ] ], "xref": [ "SNOMEDCT_US:702613006", "SNOMEDCT_US:72424001", "UMLS:C0221360" ], "is_a": [ "HP:0010315" ], "is_obsolete": "", "replace_id": "" }, "HP:0008988": { "name": [ "pelvic girdle muscle atrophy", "pelvic girdle muscle atrophy" ], "alt_id": [ "HP:0008992" ], "def": "Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles).", "synonym": [ [ "pelvic girdle muscle wasting", "pelvic girdle muscle waste" ] ], "xref": [ "UMLS:C0240679" ], "is_a": [ "HP:0001445", "HP:0001471" ], "is_obsolete": "", "replace_id": "" }, "HP:0008991": { "name": [ "exercise - induced leg cramps", "exercise - induced leg cramp" ], "alt_id": [], "def": "Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion.", "synonym": [], "xref": [ "UMLS:C4024607" ], "is_a": [ "HP:0003710" ], "is_obsolete": "", "replace_id": "" }, "HP:0008993": { "name": [ "increased intraabdominal fat", "increase intraabdominal fat" ], "alt_id": [], "def": "An abnormal increase in the amount of intraabdominal fat tissue.", "synonym": [], "xref": [ "UMLS:C1835390" ], "is_a": [ "HP:0009126" ], "is_obsolete": "", "replace_id": "" }, "HP:0008994": { "name": [ "proximal muscle weakness in lower limbs", "proximal muscle weakness in low limb" ], "alt_id": [ "HP:0002455", "HP:0008941" ], "def": "A lack of strength of the proximal muscles of the legs.", "synonym": [ [ "muscle weakness , proximal , lower limbs", "muscle weakness , proximal , low limb" ] ], "xref": [ "UMLS:C1866010" ], "is_a": [ "HP:0003690", "HP:0003701" ], "is_obsolete": "", "replace_id": "" }, "HP:0008997": { "name": [ "proximal muscle weakness in upper limbs", "proximal muscle weakness in upper limb" ], "alt_id": [], "def": "A lack of strength of the proximal muscles of the arms.", "synonym": [], "xref": [ "UMLS:C1866012" ], "is_a": [ "HP:0001446", "HP:0003484", "HP:0003701" ], "is_obsolete": "", "replace_id": "" }, "HP:0008998": { "name": [ "pectoralis hypoplasia", "pectoralis hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the pectoral muscle.", "synonym": [ [ "hypoplastic pectoral muscle", "hypoplastic pectoral muscle" ], [ "small pec muscle", "small pec muscle" ], [ "underdeveloped pec muscle", "underdeveloped pec muscle" ] ], "xref": [ "UMLS:C1846477" ], "is_a": [ "HP:0005258", "HP:0009004" ], "is_obsolete": "", "replace_id": "" }, "HP:0009002": { "name": [ "loss of truncal subcutaneous adipose tissue", "loss of truncal subcutaneous adipose tissue" ], "alt_id": [ "HP:0008989" ], "def": "Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.", "synonym": [ [ "loss of fat tissue in trunk", "loss of fat tissue in trunk" ], [ "loss of subcutaneous truncal adipose tissue", "loss of subcutaneous truncal adipose tissue" ], [ "loss of truncal adipose tissue", "loss of truncal adipose tissue" ] ], "xref": [ "UMLS:C1835384" ], "is_a": [ "HP:0008887" ], "is_obsolete": "", "replace_id": "" }, "HP:0009003": { "name": [ "increased subcutaneous truncal adipose tissue", "increase subcutaneous truncal adipose tissue" ], "alt_id": [], "def": "The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.", "synonym": [ [ "increased fat below the skin in trunk", "increase fat below the skin in trunk" ] ], "xref": [ "UMLS:C1837781" ], "is_a": [ "HP:0001001", "HP:0009126" ], "is_obsolete": "", "replace_id": "" }, "HP:0009004": { "name": [ "hypoplasia of the musculature", "hypoplasia of the musculature" ], "alt_id": [ "HP:0009034" ], "def": "Underdevelopment of the musculature.", "synonym": [ [ "muscle hypoplasia", "muscle hypoplasia" ], [ "poorly developed skeletal musculature", "poorly develop skeletal musculature" ], [ "underdeveloped muscle", "underdeveloped muscle" ], [ "underdeveloped muscles", "underdeveloped muscle" ] ], "xref": [ "SNOMEDCT_US:205530002", "UMLS:C0240414" ], "is_a": [ "HP:0001460" ], "is_obsolete": "", "replace_id": "" }, "HP:0009005": { "name": [ "weakness of the intrinsic hand muscles", "weakness of the intrinsic hand muscle" ], "alt_id": [], "def": "", "synonym": [ [ "intrinsic hand muscle weakness", "intrinsic hand muscle weakness" ] ], "xref": [ "UMLS:C1834536" ], "is_a": [ "HP:0001421" ], "is_obsolete": "", "replace_id": "" }, "HP:0009007": { "name": [ "biceps hypoplasia", "biceps hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the biceps muscle.", "synonym": [ [ "hypoplastic biceps", "hypoplastic biceps" ], [ "underdeveloped biceps", "underdeveloped biceps" ] ], "xref": [ "UMLS:C1862499" ], "is_a": [ "HP:0009782", "HP:0030239" ], "is_obsolete": "", "replace_id": "" }, "HP:0009011": { "name": [ "hypoplasia of serratus anterior muscle", "hypoplasia of serratus anterior muscle" ], "alt_id": [], "def": "Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula.", "synonym": [], "xref": [ "UMLS:C1868167" ], "is_a": [ "HP:0009131" ], "is_obsolete": "", "replace_id": "" }, "HP:0009013": { "name": [ "congenital absence of gluteal muscles", "congenital absence of gluteal muscle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C535561", "UMLS:C2930932" ], "is_a": [ "HP:0001443", "HP:0001471" ], "is_obsolete": "", "replace_id": "" }, "HP:0009016": { "name": [ "upper limb muscle hypoplasia", "upper limb muscle hypoplasia" ], "alt_id": [], "def": "Underdevelopment of muscles of the arm.", "synonym": [ [ "underdevelopment of upper limb muscles", "underdevelopment of upper limb muscle" ] ], "xref": [ "UMLS:C1846478" ], "is_a": [ "HP:0001467", "HP:0009004" ], "is_obsolete": "", "replace_id": "" }, "HP:0009017": { "name": [ "loss of gluteal subcutaneous adipose tissue", "loss of gluteal subcutaneous adipose tissue" ], "alt_id": [], "def": "Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region.", "synonym": [ [ "loss of fat tissue below the skin in gluts", "loss of fat tissue below the skin in glut" ] ], "xref": [ "UMLS:C4024606" ], "is_a": [ "HP:0008887" ], "is_obsolete": "", "replace_id": "" }, "HP:0009019": { "name": [ "progressive loss of facial adipose tissue", "progressive loss of facial adipose tissue" ], "alt_id": [], "def": "", "synonym": [ [ "atrophy of facial adipose tissue", "atrophy of facial adipose tissue" ], [ "facial fat atrophy", "facial fat atrophy" ], [ "facial fat wasting", "facial fat wasting" ], [ "loss of subcutaneous adipose tissue from face , progressive", "loss of subcutaneous adipose tissue from face , progressive" ], [ "progressive loss of facial fat", "progressive loss of facial fat" ], [ "progressive loss of facial subcutaneous adipose tissue", "progressive loss of facial subcutaneous adipose tissue" ], [ "progressive loss of subcutaneous adipose tissue from face", "progressive loss of subcutaneous adipose tissue from face" ] ], "xref": [ "UMLS:C1837510" ], "is_a": [ "HP:0000292" ], "is_obsolete": "", "replace_id": "" }, "HP:0009020": { "name": [ "exercise - induced muscle fatigue", "exercise - induced muscle fatigue" ], "alt_id": [], "def": "An abnormally increased tendency towards muscle fatigue induced by physical exercise.", "synonym": [], "xref": [ "UMLS:C1855580" ], "is_a": [ "HP:0003750" ], "is_obsolete": "", "replace_id": "" }, "HP:0009023": { "name": [ "abdominal wall muscle weakness", "abdominal wall muscle weakness" ], "alt_id": [ "HP:0001546", "HP:0004873" ], "def": "Decreased strength of the abdominal musculature.", "synonym": [ [ "lax abdominal musculature", "lax abdominal musculature" ] ], "xref": [ "UMLS:C4021527" ], "is_a": [ "HP:0001324" ], "is_obsolete": "", "replace_id": "" }, "HP:0009025": { "name": [ "increased connective tissue", "increase connective tissue" ], "alt_id": [], "def": "The presence of an abnormally increased amount of connective tissue.", "synonym": [], "xref": [ "UMLS:C1866021" ], "is_a": [ "HP:0003549" ], "is_obsolete": "", "replace_id": "" }, "HP:0009026": { "name": [ "hypoplasia of latissimus dorsi muscle", "hypoplasia of latissimus dorsi muscle" ], "alt_id": [], "def": "Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula.", "synonym": [], "xref": [ "UMLS:C3805860" ], "is_a": [ "HP:0009131" ], "is_obsolete": "", "replace_id": "" }, "HP:0009027": { "name": [ "foot dorsiflexor weakness", "foot dorsiflexor weakness" ], "alt_id": [ "HP:0003377" ], "def": "Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.", "synonym": [ [ "foot drop", "foot drop" ], [ "foot extensor weakness", "foot extensor weakness" ], [ "footdrop", "footdrop" ], [ "inability to heel walk", "inability to heel walk" ], [ "inability to walk on heels", "inability to walk on heel" ] ], "xref": [ "SNOMEDCT_US:6077001", "UMLS:C0085684", "UMLS:C1866141" ], "is_a": [ "HP:0003690" ], "is_obsolete": "", "replace_id": "" }, "HP:0009028": { "name": [ "generalized weakness of limb muscles", "generalized weakness of limb muscle" ], "alt_id": [], "def": "Generalized weakness of the muscles of the arms and legs.", "synonym": [ [ "generalised weakness of limb muscles", "generalised weakness of limb muscle" ] ], "xref": [ "UMLS:C4024605" ], "is_a": [ "HP:0009127" ], "is_obsolete": "", "replace_id": "" }, "HP:0009031": { "name": [ "amyotrophy of ankle musculature", "amyotrophy of ankle musculature" ], "alt_id": [], "def": "Atrophy of the muscles of the ankle.", "synonym": [], "xref": [ "UMLS:C4024604" ], "is_a": [ "HP:0001436" ], "is_obsolete": "", "replace_id": "" }, "HP:0009037": { "name": [ "segmental spinal muscular atrophy", "segmental spinal muscular atrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C566670", "UMLS:C1866774" ], "is_a": [ "HP:0007269" ], "is_obsolete": "", "replace_id": "" }, "HP:0009042": { "name": [ "marked muscular hypertrophy", "mark muscular hypertrophy" ], "alt_id": [], "def": "Severe hypertrophy (increase in size) of muscle cells.", "synonym": [], "xref": [ "UMLS:C1846013" ], "is_a": [ "HP:0003712" ], "is_obsolete": "", "replace_id": "" }, "HP:0009044": { "name": [ "obsolete hypoplasia of deltoid muscle", "obsolete hypoplasia of deltoid muscle" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0030241" }, "HP:0009045": { "name": [ "exercise - induced rhabdomyolysis", "exercise - induced rhabdomyolysis" ], "alt_id": [], "def": "Rhabdomyolysis induced by exercise.", "synonym": [ [ "rhabdomyolysis with exercise", "rhabdomyolysis with exercise" ] ], "xref": [ "UMLS:C4021526" ], "is_a": [ "HP:0003201" ], "is_obsolete": "", "replace_id": "" }, "HP:0009046": { "name": [ "difficulty running", "difficulty run" ], "alt_id": [], "def": "Reduced ability to run.", "synonym": [ [ "difficulty running", "difficulty run" ] ], "xref": [ "SNOMEDCT_US:282479002", "UMLS:C0560346" ], "is_a": [ "HP:0004302" ], "is_obsolete": "", "replace_id": "" }, "HP:0009049": { "name": [ "peroneal muscle atrophy", "peroneal muscle atrophy" ], "alt_id": [ "HP:0008939", "HP:0008982" ], "def": "Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).", "synonym": [ [ "peroneal atrophy", "peroneal atrophy" ] ], "xref": [ "UMLS:C1389118" ], "is_a": [ "HP:0001430", "HP:0003202" ], "is_obsolete": "", "replace_id": "" }, "HP:0009050": { "name": [ "quadriceps muscle atrophy", "quadriceps muscle atrophy" ], "alt_id": [], "def": "Muscular atrophy involving the quadriceps muscle.", "synonym": [ [ "wasting of quad muscles", "wasting of quad muscle" ] ], "xref": [ "UMLS:C4024603" ], "is_a": [ "HP:0008956" ], "is_obsolete": "", "replace_id": "" }, "HP:0009051": { "name": [ "increased muscle glycogen content", "increase muscle glycogen content" ], "alt_id": [], "def": "An increased amount of glycogen in muscle tissue.", "synonym": [], "xref": [ "UMLS:C1968729" ], "is_a": [ "HP:0012269" ], "is_obsolete": "", "replace_id": "" }, "HP:0009053": { "name": [ "distal lower limb muscle weakness", "distal low limb muscle weakness" ], "alt_id": [ "HP:0003485", "HP:0009035" ], "def": "Reduced strength of the distal musculature of the legs.", "synonym": [ [ "distal muscle weakness in lower limbs", "distal muscle weakness in low limb" ], [ "muscle weakness , lower limb , distal", "muscle weakness , low limb , distal" ] ], "xref": [ "UMLS:C1836450" ], "is_a": [ "HP:0002460", "HP:0002814", "HP:0007340" ], "is_obsolete": "", "replace_id": "" }, "HP:0009054": { "name": [ "scapuloperoneal myopathy", "scapuloperoneal myopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C536624", "UMLS:C2931268" ], "is_a": [ "HP:0001430", "HP:0001465" ], "is_obsolete": "", "replace_id": "" }, "HP:0009055": { "name": [ "generalized limb muscle atrophy", "generalize limb muscle atrophy" ], "alt_id": [ "HP:0003788" ], "def": "Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.", "synonym": [ [ "generalised limb muscle atrophy", "generalise limb muscle atrophy" ], [ "generalised muscle atrophy , proximal and distal", "generalised muscle atrophy , proximal and distal" ], [ "generalised muscle wasting", "generalised muscle waste" ], [ "generalized muscle atrophy , proximal and distal", "generalize muscle atrophy , proximal and distal" ], [ "generalized muscle wasting", "generalize muscle waste" ] ], "xref": [ "UMLS:C1838114" ], "is_a": [ "HP:0003700" ], "is_obsolete": "", "replace_id": "" }, "HP:0009056": { "name": [ "loss of subcutaneous adipose tissue from upper limbs", "loss of subcutaneous adipose tissue from upper limb" ], "alt_id": [], "def": "", "synonym": [ [ "loss of fat tissue below the skin from upper limbs", "loss of fat tissue below the skin from upper limb" ] ], "xref": [ "UMLS:C4024602" ], "is_a": [ "HP:0003635" ], "is_obsolete": "", "replace_id": "" }, "HP:0009058": { "name": [ "increased muscle lipid content", "increase muscle lipid content" ], "alt_id": [ "HP:0100949" ], "def": "An abnormal accumulation of lipids in skeletal muscle.", "synonym": [ [ "fat accumulation in muscle fibers", "fat accumulation in muscle fiber" ], [ "fat accumulation in muscle fibres", "fat accumulation in muscle fibre" ], [ "fat deposits in muscle fibers", "fat deposit in muscle fiber" ], [ "fat deposits in muscle fibres", "fat deposit in muscle fibre" ], [ "increased muscle lipid content", "increase muscle lipid content" ], [ "lipid accumulation in skeletal muscle", "lipid accumulation in skeletal muscle" ], [ "muscle lipidosis", "muscle lipidosis" ], [ "skeletal muscle lipid accumulation", "skeletal muscle lipid accumulation" ] ], "xref": [ "UMLS:C1837262" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0009059": { "name": [ "congenital generalized lipodystrophy", "congenital generalize lipodystrophy" ], "alt_id": [], "def": "", "synonym": [ [ "congenital generalised lipodystrophy", "congenital generalise lipodystrophy" ] ], "xref": [ "MSH:D052497", "SNOMEDCT_US:284449005", "SNOMEDCT_US:86907008", "UMLS:C0221032" ], "is_a": [ "HP:0009125" ], "is_obsolete": "", "replace_id": "" }, "HP:0009060": { "name": [ "scapular muscle atrophy", "scapular muscle atrophy" ], "alt_id": [], "def": "Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.", "synonym": [], "xref": [ "UMLS:C3805969" ], "is_a": [ "HP:0001465" ], "is_obsolete": "", "replace_id": "" }, "HP:0009062": { "name": [ "infantile axial hypotonia", "infantile axial hypotonia" ], "alt_id": [], "def": "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy.", "synonym": [ [ "hypotonia , axial , in infancy", "hypotonia , axial , in infancy" ] ], "xref": [ "UMLS:C3806604" ], "is_a": [ "HP:0008936", "HP:0008947" ], "is_obsolete": "", "replace_id": "" }, "HP:0009063": { "name": [ "progressive distal muscle weakness", "progressive distal muscle weakness" ], "alt_id": [ "HP:0008933", "HP:0009022", "HP:0009057" ], "def": "Progressively reduced strength of the distal musculature.", "synonym": [ [ "muscle weakness , distal , progressive", "muscle weakness , distal , progressive" ], [ "muscle weakness , progressive , distal", "muscle weakness , progressive , distal" ] ], "xref": [ "UMLS:C1836609" ], "is_a": [ "HP:0002460" ], "is_obsolete": "", "replace_id": "" }, "HP:0009064": { "name": [ "generalized lipodystrophy", "generalize lipodystrophy" ], "alt_id": [ "HP:0008966" ], "def": "Generalized degenerative changes of the fat tissue.", "synonym": [ [ "generalised lipodystrophy", "generalise lipodystrophy" ], [ "lipodystrophy , generalised", "lipodystrophy , generalise" ], [ "lipodystrophy , generalized", "lipodystrophy , generalize" ] ], "xref": [ "MSH:D052497", "SNOMEDCT_US:284449005", "SNOMEDCT_US:86907008", "UMLS:C0221032" ], "is_a": [ "HP:0009125" ], "is_obsolete": "", "replace_id": "" }, "HP:0009067": { "name": [ "progressive spinal muscular atrophy", "progressive spinal muscular atrophy" ], "alt_id": [], "def": "Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.", "synonym": [ [ "progressive spinal muscle degeneration", "progressive spinal muscle degeneration" ], [ "progressive spinal muscle wasting", "progressive spinal muscle waste" ] ], "xref": [ "UMLS:C4082951" ], "is_a": [ "HP:0007269" ], "is_obsolete": "", "replace_id": "" }, "HP:0009069": { "name": [ "lethal infantile mitochondrial myopathy", "lethal infantile mitochondrial myopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C564017", "UMLS:C1838876" ], "is_a": [ "HP:0003737" ], "is_obsolete": "", "replace_id": "" }, "HP:0009071": { "name": [ "inflammatory myopathy", "inflammatory myopathy" ], "alt_id": [], "def": "Chronic muscle inflammation accompanied by muscle weakness.", "synonym": [], "xref": [ "MSH:D009220", "SNOMEDCT_US:128496001", "SNOMEDCT_US:26889001", "UMLS:C0027121" ], "is_a": [ "HP:0003198" ], "is_obsolete": "", "replace_id": "" }, "HP:0009072": { "name": [ "decreased achilles reflex", "decrease achilles reflex" ], "alt_id": [], "def": "Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.", "synonym": [ [ "hyporeflexia at ankle joints", "hyporeflexia at ankle joint" ] ], "xref": [ "UMLS:C1837323" ], "is_a": [ "HP:0002600" ], "is_obsolete": "", "replace_id": "" }, "HP:0009073": { "name": [ "progressive proximal muscle weakness", "progressive proximal muscle weakness" ], "alt_id": [ "HP:0008965" ], "def": "Lack of strength of the proximal muscles that becomes progressively more severe.", "synonym": [ [ "muscle weakness , progressive , proximal", "muscle weakness , progressive , proximal" ] ], "xref": [ "UMLS:C1836156" ], "is_a": [ "HP:0003323", "HP:0003701" ], "is_obsolete": "", "replace_id": "" }, "HP:0009077": { "name": [ "weakness of long finger extensor muscles", "weakness of long finger extensor muscle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024601" ], "is_a": [ "HP:0030237" ], "is_obsolete": "", "replace_id": "" }, "HP:0009084": { "name": [ "midline notch of upper alveolar ridge", "midline notch of upper alveolar ridge" ], "alt_id": [], "def": "", "synonym": [ [ "midline cleft of maxillary alveolar process", "midline cleft of maxillary alveolar process" ], [ "midline cleft of upper alveolar ridge", "midline cleft of upper alveolar ridge" ], [ "midline notch of maxillary alveolar process", "midline notch of maxillary alveolar process" ], [ "midline notch of maxillary alveolar ridge", "midline notch of maxillary alveolar ridge" ], [ "midline notch of upper gum ridge", "midline notch of upper gum ridge" ] ], "xref": [ "UMLS:C1851853" ], "is_a": [ "HP:0006477" ], "is_obsolete": "", "replace_id": "" }, "HP:0009085": { "name": [ "alveolar ridge overgrowth", "alveolar ridge overgrowth" ], "alt_id": [ "HP:0009078", "HP:0009083" ], "def": "Increased width of the alveolar ridges.", "synonym": [ [ "alveolar ridge excess", "alveolar ridge excess" ], [ "enlarged alveolar ridge", "enlarge alveolar ridge" ], [ "hyperplasia of alveolar process of jaw", "hyperplasia of alveolar process of jaw" ], [ "hyperplasia of alveolar ridge", "hyperplasia of alveolar ridge" ], [ "hypertrophied alveolar ridge", "hypertrophy alveolar ridge" ], [ "increased size of alveolar ridge", "increase size of alveolar ridge" ], [ "increased size of gum ridge", "increase size of gum ridge" ], [ "overgrowth of alveolar ridge", "overgrowth of alveolar ridge" ], [ "overgrowth of gum ridge", "overgrowth of gum ridge" ], [ "thick alveolar ridges", "thick alveolar ridge" ], [ "thickened alveolar ridges", "thicken alveolar ridge" ] ], "xref": [ "UMLS:C1856164", "UMLS:C1865598" ], "is_a": [ "HP:0006477" ], "is_obsolete": "", "replace_id": "" }, "HP:0009087": { "name": [ "posteriorly placed tongue", "posteriorly place tongue" ], "alt_id": [], "def": "", "synonym": [ [ "posteriorly placed tongue", "posteriorly place tongue" ] ], "xref": [ "UMLS:C4024600" ], "is_a": [ "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0009088": { "name": [ "speech articulation difficulties", "speech articulation difficulty" ], "alt_id": [], "def": "Impairment in the physical production of speech sounds.", "synonym": [], "xref": [ "UMLS:C1865313" ], "is_a": [ "HP:0001608" ], "is_obsolete": "", "replace_id": "" }, "HP:0009090": { "name": [ "obsolete facial diplegic appearance", "obsolete facial diplegic appearance" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0009092": { "name": [ "progressive alveolar ridge hypertropy", "progressive alveolar ridge hypertropy" ], "alt_id": [], "def": "", "synonym": [ [ "increasing overgrowth of gum ridge", "increase overgrowth of gum ridge" ], [ "increasing size of gum ridge", "increase size of gum ridge" ], [ "progressive hypertrophy of alveolar process of jaw", "progressive hypertrophy of alveolar process of jaw" ] ], "xref": [ "UMLS:C1854934", "UMLS:C4280407" ], "is_a": [ "HP:0006477" ], "is_obsolete": "", "replace_id": "" }, "HP:0009094": { "name": [ "cleft lower alveolar ridge", "cleft low alveolar ridge" ], "alt_id": [], "def": "", "synonym": [ [ "cleft of lower alveolar process", "cleft of low alveolar process" ], [ "cleft of lower gingiva", "cleft of low gingiva" ], [ "cleft of lower gum ridge", "cleft of low gum ridge" ], [ "cleft of mandibular alveolar process", "cleft of mandibular alveolar process" ], [ "cleft of mandibular gingiva", "cleft of mandibular gingiva" ], [ "notch of lower alveolar process", "notch of low alveolar process" ], [ "notch of lower alveolar ridge", "notch of low alveolar ridge" ], [ "notch of lower gum ridge", "notch of low gum ridge" ], [ "notch of mandibular alveolar process", "notch of mandibular alveolar process" ], [ "notch of mandibular alveolar ridge", "notch of mandibular alveolar ridge" ] ], "xref": [ "UMLS:C1849350", "UMLS:C4280404", "UMLS:C4280405", "UMLS:C4280406" ], "is_a": [ "HP:0010289" ], "is_obsolete": "", "replace_id": "" }, "HP:0009098": { "name": [ "chronic oral candidiasis", "chronic oral candidiasis" ], "alt_id": [], "def": "Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.", "synonym": [ [ "chronic oral thrush", "chronic oral thrush" ] ], "xref": [ "UMLS:C4024599" ], "is_a": [ "HP:0002728" ], "is_obsolete": "", "replace_id": "" }, "HP:0009099": { "name": [ "median cleft palate", "median cleft palate" ], "alt_id": [], "def": "Cleft palate of the midline of the palate.", "synonym": [ [ "central cleft palate", "central cleft palate" ], [ "midline cleft palate", "midline cleft palate" ] ], "xref": [ "UMLS:C1850968" ], "is_a": [ "HP:0000175" ], "is_obsolete": "", "replace_id": "" }, "HP:0009100": { "name": [ "thick anterior alveolar ridges", "thick anterior alveolar ridge" ], "alt_id": [], "def": "", "synonym": [ [ "thick anterior alveolar process of jaw", "thick anterior alveolar process of jaw" ] ], "xref": [ "UMLS:C1859377" ], "is_a": [ "HP:0009085" ], "is_obsolete": "", "replace_id": "" }, "HP:0009101": { "name": [ "submucous cleft lip", "submucous cleft lip" ], "alt_id": [], "def": "A cleft of the lip with overlying mucous membrane.", "synonym": [ [ "submucous labial cleft", "submucous labial cleft" ] ], "xref": [ "UMLS:C1839277" ], "is_a": [ "HP:0000204" ], "is_obsolete": "", "replace_id": "" }, "HP:0009102": { "name": [ "anterior open - bite malocclusion", "anterior open - bite malocclusion" ], "alt_id": [ "HP:0200095" ], "def": "Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.", "synonym": [ [ "absence of overlap of anterior upper and lower teeth", "absence of overlap of anterior upper and low teeth" ], [ "anterior open bite", "anterior open bite" ], [ "anterior open bite between upper and lower teeth", "anterior open bite between upper and low teeth" ], [ "anterior openbite", "anterior openbite" ], [ "apertognathia malocclusion", "apertognathia malocclusion" ], [ "gap between upper and lower front teeth when biting", "gap between upper and low front teeth when bite" ] ], "xref": [ "UMLS:C4024598" ], "is_a": [ "HP:0000689", "HP:0010807" ], "is_obsolete": "", "replace_id": "" }, "HP:0009103": { "name": [ "aplasia / hypoplasia involving the pelvis", "aplasia / hypoplasia involve the pelvis" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small pelvis", "absent / small pelvis" ], [ "absent / underdeveloped pelvis", "absent / underdevelop pelvis" ] ], "xref": [ "UMLS:C4024597" ], "is_a": [ "HP:0002644" ], "is_obsolete": "", "replace_id": "" }, "HP:0009104": { "name": [ "aplasia / hypoplasia of the pubic bone", "aplasia / hypoplasia of the pubic bone" ], "alt_id": [ "HP:0008841" ], "def": "Absence or underdevelopment of the pubic bone.", "synonym": [ [ "absent / small pubic bones", "absent / small pubic bone" ], [ "absent / underdeveloped pubic bones", "absent / underdevelop pubic bone" ], [ "hypoplastic / aplastic pubic bones", "hypoplastic / aplastic pubic bone" ] ], "xref": [ "UMLS:C1849305" ], "is_a": [ "HP:0003172", "HP:0009103" ], "is_obsolete": "", "replace_id": "" }, "HP:0009105": { "name": [ "abnormal ossification of the pubic bone", "abnormal ossification of the pubic bone" ], "alt_id": [], "def": "Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.", "synonym": [ [ "abnormal maturation of the pubic bone", "abnormal maturation of the pubic bone" ] ], "xref": [ "UMLS:C4024596", "UMLS:C4280403" ], "is_a": [ "HP:0003172", "HP:0009106" ], "is_obsolete": "", "replace_id": "" }, "HP:0009106": { "name": [ "abnormal pelvis bone ossification", "abnormal pelvis bone ossification" ], "alt_id": [], "def": "An abnormality of the formation and mineralization of any bone of the bony pelvis.", "synonym": [ [ "abnormal maturation of the pelvis bone", "abnormal maturation of the pelvis bone" ], [ "abnormal ossification involving the bones of the pelvis", "abnormal ossification involve the bone of the pelvis" ] ], "xref": [ "UMLS:C4021525", "UMLS:C4280402" ], "is_a": [ "HP:0002644", "HP:0003336" ], "is_obsolete": "", "replace_id": "" }, "HP:0009107": { "name": [ "abnormal ossification involving the femoral head and neck", "abnormal ossification involve the femoral head and neck" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal maturation of thigh bone head and neck", "abnormal maturation of thigh bone head and neck" ] ], "xref": [ "UMLS:C4024595" ], "is_a": [ "HP:0003336", "HP:0003366" ], "is_obsolete": "", "replace_id": "" }, "HP:0009108": { "name": [ "aplasia / hypoplasia involving the femoral head and neck", "aplasia / hypoplasia involve the femoral head and neck" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small head and neck of thighbone", "absent / small head and neck of thighbone" ], [ "absent / underdeveloped head and neck of thighbone", "absent / underdeveloped head and neck of thighbone" ] ], "xref": [ "UMLS:C4024594" ], "is_a": [ "HP:0003366", "HP:0005613", "HP:0009103" ], "is_obsolete": "", "replace_id": "" }, "HP:0009109": { "name": [ "denervation of the diaphragm", "denervation of the diaphragm" ], "alt_id": [], "def": "Interruption of the innervation of the diaphragm.", "synonym": [], "xref": [ "UMLS:C1858529" ], "is_a": [ "HP:0000775" ], "is_obsolete": "", "replace_id": "" }, "HP:0009110": { "name": [ "diaphragmatic eventration", "diaphragmatic eventration" ], "alt_id": [ "HP:0009114" ], "def": "A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development.", "synonym": [ [ "eventration of the diaphragm", "eventration of the diaphragm" ] ], "xref": [ "MSH:D003965", "SNOMEDCT_US:34168003", "UMLS:C0011981" ], "is_a": [ "HP:0000775" ], "is_obsolete": "", "replace_id": "" }, "HP:0009112": { "name": [ "aplasia of the left hemidiaphragm", "aplasia of the left hemidiaphragm" ], "alt_id": [ "HP:0040048" ], "def": "Congenital absence of the left half of the diaphragm.", "synonym": [ [ "absent left hemidiaphragm", "absent leave hemidiaphragm" ], [ "left diaphragmatic hernia", "leave diaphragmatic hernia" ] ], "xref": [ "UMLS:C4024593" ], "is_a": [ "HP:0000776", "HP:0040046" ], "is_obsolete": "", "replace_id": "" }, "HP:0009113": { "name": [ "diaphragmatic weakness", "diaphragmatic weakness" ], "alt_id": [ "HP:0005953", "HP:0009111" ], "def": "A decrease in the strength of the diaphragm.", "synonym": [ [ "diaphragmatic paraparesis", "diaphragmatic paraparesis" ], [ "diminished diaphragmatic motion", "diminish diaphragmatic motion" ], [ "weak diaphragm", "weak diaphragm" ] ], "xref": [ "SNOMEDCT_US:95438009", "UMLS:C0521532", "UMLS:C4020786" ], "is_a": [ "HP:0001324" ], "is_obsolete": "", "replace_id": "" }, "HP:0009115": { "name": [ "aplasia / hypoplasia involving the skeleton", "aplasia / hypoplasia involve the skeleton" ], "alt_id": [], "def": "Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.", "synonym": [ [ "absent / small skeleton", "absent / small skeleton" ], [ "absent / underdeveloped skeleton", "absent / underdevelop skeleton" ] ], "xref": [ "UMLS:C4024592" ], "is_a": [ "HP:0011842" ], "is_obsolete": "", "replace_id": "" }, "HP:0009116": { "name": [ "aplasia / hypoplasia involving bones of the skull", "aplasia / hypoplasia involve bone of the skull" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024591" ], "is_a": [ "HP:0000929", "HP:0009122" ], "is_obsolete": "", "replace_id": "" }, "HP:0009117": { "name": [ "aplasia / hypoplasia of the maxilla", "aplasia / hypoplasia of the maxilla" ], "alt_id": [], "def": "Absence or underdevelopment of the maxilla.", "synonym": [ [ "underdevelopment of maxilla", "underdevelopment of maxilla" ], [ "underdevelopment of upper jaw bones", "underdevelopment of upper jaw bone" ] ], "xref": [ "UMLS:C4024590" ], "is_a": [ "HP:0000326", "HP:0009116" ], "is_obsolete": "", "replace_id": "" }, "HP:0009118": { "name": [ "aplasia / hypoplasia of the mandible", "aplasia / hypoplasia of the mandible" ], "alt_id": [], "def": "Absence or underdevelopment of the mandible.", "synonym": [], "xref": [ "MSH:D063173", "UMLS:C3494426", "UMLS:C4021371", "UMLS:C4024589", "UMLS:C4280261", "UMLS:C4280401" ], "is_a": [ "HP:0000277", "HP:0009116" ], "is_obsolete": "", "replace_id": "" }, "HP:0009119": { "name": [ "aplasia / hypoplasia of the frontal sinuses", "aplasia / hypoplasia of the frontal sinus" ], "alt_id": [], "def": "Absence or underdevelopment of frontal sinus.", "synonym": [ [ "abnormally small frontal sinus", "abnormally small frontal sinus" ] ], "xref": [ "UMLS:C4024588" ], "is_a": [ "HP:0002687", "HP:0009120" ], "is_obsolete": "", "replace_id": "" }, "HP:0009120": { "name": [ "aplasia / hypoplasia involving the sinuses", "aplasia / hypoplasia involve the sinus" ], "alt_id": [], "def": "Absence or underdevelopment of a cranial sinus or sinuses.", "synonym": [], "xref": [ "UMLS:C4024587" ], "is_a": [ "HP:0000245", "HP:0009116" ], "is_obsolete": "", "replace_id": "" }, "HP:0009121": { "name": [ "abnormal axial skeleton morphology", "abnormal axial skeleton morphology" ], "alt_id": [], "def": "An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.", "synonym": [ [ "abnormality of the axial skeleton", "abnormality of the axial skeleton" ] ], "xref": [ "UMLS:C4020785", "UMLS:C4024586" ], "is_a": [ "HP:0011842" ], "is_obsolete": "", "replace_id": "" }, "HP:0009122": { "name": [ "aplasia / hypoplasia affecting bones of the axial skeleton", "aplasia / hypoplasia affect bone of the axial skeleton" ], "alt_id": [], "def": "Absence (due to failure to form) or underdevelopment of bones of the axial skeleton.", "synonym": [], "xref": [ "UMLS:C4024585" ], "is_a": [ "HP:0009115", "HP:0009121" ], "is_obsolete": "", "replace_id": "" }, "HP:0009123": { "name": [ "mixed hypo - and hyperpigmentation of the skin", "mixed hypo - and hyperpigmentation of the skin" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024584" ], "is_a": [ "HP:0000953", "HP:0001010" ], "is_obsolete": "", "replace_id": "" }, "HP:0009124": { "name": [ "abnormal adipose tissue morphology", "abnormal adipose tissue morphology" ], "alt_id": [], "def": "An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.", "synonym": [ [ "abnormality of adipose tissue", "abnormality of adipose tissue" ], [ "abnormality of fat tissue", "abnormality of fat tissue" ], [ "abnormality of fatty tissue", "abnormality of fatty tissue" ] ], "xref": [ "UMLS:C4021524" ], "is_a": [ "HP:0003549" ], "is_obsolete": "", "replace_id": "" }, "HP:0009125": { "name": [ "lipodystrophy", "lipodystrophy" ], "alt_id": [], "def": "Degenerative changes of the fat tissue.", "synonym": [ [ "inability to make and keep healthy fat tissue", "inability to make and keep healthy fat tissue" ] ], "xref": [ "MSH:D008060", "SNOMEDCT_US:71325002", "UMLS:C0023787" ], "is_a": [ "HP:0009124" ], "is_obsolete": "", "replace_id": "" }, "HP:0009126": { "name": [ "increased adipose tissue", "increase adipose tissue" ], "alt_id": [], "def": "An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell).", "synonym": [ [ "increased adipose tissue", "increase adipose tissue" ], [ "increased fat tissue", "increase fat tissue" ] ], "xref": [ "UMLS:C4024583" ], "is_a": [ "HP:0009025", "HP:0009124" ], "is_obsolete": "", "replace_id": "" }, "HP:0009127": { "name": [ "abnormality of the musculature of the limbs", "abnormality of the musculature of the limb" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal limb muscles", "abnormal limb muscle" ], [ "muscle issues in the arms and / or legs", "muscle issue in the arm and / or leg" ] ], "xref": [ "UMLS:C4024582" ], "is_a": [ "HP:0011805", "HP:0040064" ], "is_obsolete": "", "replace_id": "" }, "HP:0009128": { "name": [ "aplasia / hypoplasia involving the musculature of the extremities", "aplasia / hypoplasia involve the musculature of the extremity" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small muscles of extremities", "absent / small muscle of extremity" ], [ "absent / underdeveloped muscles of extremities", "absent / underdevelop muscle of extremity" ] ], "xref": [ "UMLS:C4024581" ], "is_a": [ "HP:0001460", "HP:0009127" ], "is_obsolete": "", "replace_id": "" }, "HP:0009129": { "name": [ "upper limb amyotrophy", "upper limb amyotrophy" ], "alt_id": [ "HP:0003471" ], "def": "Muscular atrophy involving the muscles of the upper limbs.", "synonym": [ [ "amyotrophy involving the upper limbs", "amyotrophy involve the upper limb" ] ], "xref": [ "UMLS:C4021523" ], "is_a": [ "HP:0001446", "HP:0003202" ], "is_obsolete": "", "replace_id": "" }, "HP:0009130": { "name": [ "hand muscle atrophy", "hand muscle atrophy" ], "alt_id": [ "HP:0006967", "HP:0008934", "HP:0008951", "HP:0009038" ], "def": "Muscular atrophy involving the muscles of the hand.", "synonym": [ [ "amyotrophy involving the musculature of the hand", "amyotrophy involve the musculature of the hand" ], [ "amyotrophy of hand muscles", "amyotrophy of hand muscle" ], [ "hand muscle degeneration", "hand muscle degeneration" ], [ "hand muscle wasting", "hand muscle wasting" ], [ "hand muscle wasting , bilateral", "hand muscle wasting , bilateral" ] ], "xref": [ "UMLS:C0239830" ], "is_a": [ "HP:0001421", "HP:0007149" ], "is_obsolete": "", "replace_id": "" }, "HP:0009131": { "name": [ "abnormality of the musculature of the thorax", "abnormality of the musculature of the thorax" ], "alt_id": [], "def": "A disease or lesion affecting the muscles of the thorax.", "synonym": [], "xref": [ "UMLS:C4024580" ], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0009132": { "name": [ "abnormal tarsal bone mineral density", "abnormal tarsal bone mineral density" ], "alt_id": [], "def": "This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.", "synonym": [ [ "abnormality of bone mineral density involving tarsal bones", "abnormality of bone mineral density involve tarsal bone" ] ], "xref": [ "UMLS:C4021522" ], "is_a": [ "HP:0001850", "HP:0004348" ], "is_obsolete": "", "replace_id": "" }, "HP:0009134": { "name": [ "osteolysis involving bones of the feet", "osteolysis involve bone of the foot" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024579" ], "is_a": [ "HP:0001760", "HP:0009139" ], "is_obsolete": "", "replace_id": "" }, "HP:0009136": { "name": [ "duplication involving bones of the feet", "duplication involve bone of the foot" ], "alt_id": [], "def": "", "synonym": [ [ "duplication involving bones of the feet", "duplication involve bone of the foot" ] ], "xref": [ "UMLS:C4024578" ], "is_a": [ "HP:0001760", "HP:0040069" ], "is_obsolete": "", "replace_id": "" }, "HP:0009138": { "name": [ "synostosis involving bones of the lower limbs", "synostosis involve bone of the low limb" ], "alt_id": [], "def": "An abnormal union between bones or parts of bones lower limbs.", "synonym": [ [ "fusion involving the bones of the lower limbs", "fusion involve the bone of the low limb" ] ], "xref": [ "UMLS:C4024577" ], "is_a": [ "HP:0040069", "HP:0100240", "HP:0100491" ], "is_obsolete": "", "replace_id": "" }, "HP:0009139": { "name": [ "osteolysis involving bones of the lower limbs", "osteolysis involve bone of the low limb" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024576" ], "is_a": [ "HP:0002797", "HP:0040069" ], "is_obsolete": "", "replace_id": "" }, "HP:0009140": { "name": [ "synostosis involving bones of the feet", "synostosis involve bone of the foot" ], "alt_id": [], "def": "", "synonym": [ [ "fusion involving the bones of the feet", "fusion involve the bone of the foot" ] ], "xref": [ "UMLS:C4024575" ], "is_a": [ "HP:0001760", "HP:0009138" ], "is_obsolete": "", "replace_id": "" }, "HP:0009141": { "name": [ "depletion of mitochondrial dna in muscle tissue", "depletion of mitochondrial dna in muscle tissue" ], "alt_id": [ "HP:0009070" ], "def": "", "synonym": [ [ "depletion of mitochondrial dna in skeletal muscle tissue", "depletion of mitochondrial dna in skeletal muscle tissue" ] ], "xref": [ "UMLS:C4021521" ], "is_a": [ "HP:0003800" ], "is_obsolete": "", "replace_id": "" }, "HP:0009142": { "name": [ "duplication of bones involving the upper extremities", "duplication of bone involve the upper extremity" ], "alt_id": [], "def": "", "synonym": [ [ "duplication of bones involving the upper extremities", "duplication of bone involve the upper extremity" ] ], "xref": [ "UMLS:C4024574" ], "is_a": [ "HP:0002817" ], "is_obsolete": "", "replace_id": "" }, "HP:0009144": { "name": [ "supernumerary bones of the axial skeleton", "supernumerary bone of the axial skeleton" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024573" ], "is_a": [ "HP:0009121" ], "is_obsolete": "", "replace_id": "" }, "HP:0009145": { "name": [ "abnormal cerebral artery morphology", "abnormal cerebral artery morphology" ], "alt_id": [], "def": "Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.", "synonym": [ [ "abnormality of cerebral artery", "abnormality of cerebral artery" ], [ "abnormality of the cerebral arteries", "abnormality of the cerebral artery" ] ], "xref": [ "UMLS:C4021520" ], "is_a": [ "HP:0011004", "HP:0100659" ], "is_obsolete": "", "replace_id": "" }, "HP:0009147": { "name": [ "enlarged epiphysis of the distal phalanx of the 5th finger", "enlarged epiphysis of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of the outermost bone of little finger", "enlarged end part of the outermost bone of little finger" ], [ "enlarged end part of the outermost bone of pinkie finger", "enlarged end part of the outermost bone of pinkie finger" ], [ "enlarged end part of the outermost bone of pinky finger", "enlarged end part of the outermost bone of pinky finger" ] ], "xref": [ "UMLS:C4024572" ], "is_a": [ "HP:0009198", "HP:0009385", "HP:0010249" ], "is_obsolete": "", "replace_id": "" }, "HP:0009148": { "name": [ "small epiphysis of the distal phalanx of the 5th finger", "small epiphysis of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.", "synonym": [ [ "small end part of the outermost bone of little finger", "small end part of the outermost bone of little finger" ], [ "small end part of the outermost bone of pinkie finger", "small end part of the outermost bone of pinkie finger" ], [ "small end part of the outermost bone of pinky finger", "small end part of the outermost bone of pinky finger" ] ], "xref": [ "UMLS:C4024571" ], "is_a": [ "HP:0009198", "HP:0009390", "HP:0010254" ], "is_obsolete": "", "replace_id": "" }, "HP:0009149": { "name": [ "triangular epiphysis of the distal phalanx of the 5th finger", "triangular epiphysis of the distal phalanx of the 5th finger" ], "alt_id": [ "HP:0009137" ], "def": "A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.", "synonym": [ [ "delta - shaped epiphysis of the distal phalanx of the 5th finger", "delta - shaped epiphysis of the distal phalanx of the 5th finger" ], [ "triangular end part of the outermost bone of little finger", "triangular end part of the outermost bone of little finger" ], [ "triangular end part of the outermost bone of pinkie finger", "triangular end part of the outermost bone of pinkie finger" ], [ "triangular end part of the outermost bone of pinky finger", "triangular end part of the outermost bone of pinky finger" ] ], "xref": [ "UMLS:C4021519" ], "is_a": [ "HP:0009198", "HP:0009392", "HP:0010256" ], "is_obsolete": "", "replace_id": "" }, "HP:0009150": { "name": [ "abnormality of the proximal phalanx of the 5th finger", "abnormality of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Abnormality of the proximal phalanx of the little (5th) finger.", "synonym": [ [ "abnormality of the innermost bone little finger", "abnormality of the innermost bone little finger" ], [ "abnormality of the innermost bone pinkie finger", "abnormality of the innermost bone pinkie finger" ], [ "abnormality of the innermost bone pinky finger", "abnormality of the innermost bone pinky finger" ] ], "xref": [ "UMLS:C4024570" ], "is_a": [ "HP:0004213" ], "is_obsolete": "", "replace_id": "" }, "HP:0009152": { "name": [ "abnormality of the epiphyses of the 5th finger", "abnormality of the epiphysis of the 5th finger" ], "alt_id": [], "def": "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger.", "synonym": [ [ "abnormality of end part of little finger bone", "abnormality of end part of little finger bone" ], [ "abnormality of end part of pinkie finger bone", "abnormality of end part of pinkie finger bone" ], [ "abnormality of end part of pinky finger bone", "abnormality of end part of pinky finger bone" ] ], "xref": [ "UMLS:C4024569" ], "is_a": [ "HP:0004207", "HP:0005920" ], "is_obsolete": "", "replace_id": "" }, "HP:0009153": { "name": [ "abnormality of the epiphysis of the proximal phalanx of the 5th finger", "abnormality of the epiphysis of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.", "synonym": [ [ "abnormality of end part of the innermost bone of little finger", "abnormality of end part of the innermost bone of little finger" ], [ "abnormality of end part of the innermost bone of pinkie finger", "abnormality of end part of the innermost bone of pinkie finger" ], [ "abnormality of end part of the innermost bone of pinky finger", "abnormality of end part of the innermost bone of pinky finger" ] ], "xref": [ "UMLS:C4024568" ], "is_a": [ "HP:0009150", "HP:0009152", "HP:0010245" ], "is_obsolete": "", "replace_id": "" }, "HP:0009154": { "name": [ "triangular epiphysis of the proximal phalanx of the 5th finger", "triangular epiphysis of the proximal phalanx of the 5th finger" ], "alt_id": [ "HP:0009156" ], "def": "A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.", "synonym": [ [ "delta - shaped epiphysis of the proximal phalanx of the 5th finger", "delta - shaped epiphysis of the proximal phalanx of the 5th finger" ], [ "triangular end part of the innermost bone of little finger", "triangular end part of the innermost bone of little finger" ], [ "triangular end part of the innermost bone of pinkie finger", "triangular end part of the innermost bone of pinkie finger" ], [ "triangular end part of the innermost bone of pinky finger", "triangular end part of the innermost bone of pinky finger" ] ], "xref": [ "UMLS:C4021518" ], "is_a": [ "HP:0009153", "HP:0009392", "HP:0010278" ], "is_obsolete": "", "replace_id": "" }, "HP:0009155": { "name": [ "cone - shaped epiphysis of the proximal phalanx of the 5th finger", "cone - shaped epiphysis of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.", "synonym": [ [ "angel - shaped epiphysis of the proximal phalanx of the 5th finger", "angel - shaped epiphysis of the proximal phalanx of the 5th finger" ], [ "cone - shaped end part of the innermost bone of little finger", "cone - shaped end part of the innermost bone of little finger" ], [ "cone - shaped end part of the innermost bone of pinkie finger", "cone - shaped end part of the innermost bone of pinkie finger" ], [ "cone - shaped end part of the innermost bone of pinky finger", "cone - shaped end part of the innermost bone of pinky finger" ], [ "cone - shaped epiphysis of the proximal phalanx of the little finger", "cone - shaped epiphysis of the proximal phalanx of the little finger" ] ], "xref": [ "UMLS:C4020783", "UMLS:C4020784" ], "is_a": [ "HP:0009153", "HP:0009384", "HP:0010270" ], "is_obsolete": "", "replace_id": "" }, "HP:0009157": { "name": [ "ivory epiphysis of the proximal phalanx of the 5th finger", "ivory epiphysis of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the innermost bone of little finger", "increase bone density of end part of the innermost bone of little finger" ], [ "increased bone density of end part of the innermost bone of pinkie finger", "increase bone density of end part of the innermost bone of pinkie finger" ], [ "increased bone density of end part of the innermost bone of pinky finger", "increase bone density of end part of the innermost bone of pinky finger" ], [ "ivory epiphysis of the proximal phalanx of the little finger", "ivory epiphysis of the proximal phalanx of the little finger" ] ], "xref": [ "UMLS:C4020782", "UMLS:C4024567" ], "is_a": [ "HP:0009153", "HP:0009388", "HP:0010274" ], "is_obsolete": "", "replace_id": "" }, "HP:0009158": { "name": [ "enlarged epiphysis of the proximal phalanx of the 5th finger", "enlarged epiphysis of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of the innermost bone of little finger", "enlarged end part of the innermost bone of little finger" ], [ "enlarged end part of the innermost bone of pinkie finger", "enlarged end part of the innermost bone of pinkie finger" ], [ "enlarged end part of the innermost bone of pinky finger", "enlarged end part of the innermost bone of pinky finger" ] ], "xref": [ "UMLS:C4024566" ], "is_a": [ "HP:0009385" ], "is_obsolete": "", "replace_id": "" }, "HP:0009159": { "name": [ "small epiphysis of the proximal phalanx of the 5th finger", "small epiphysis of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.", "synonym": [ [ "small end part of the innermost bone of little finger", "small end part of the innermost bone of little finger" ], [ "small end part of the innermost bone of pinkie finger", "small end part of the innermost bone of pinkie finger" ], [ "small end part of the innermost bone of pinky finger", "small end part of the innermost bone of pinky finger" ] ], "xref": [ "UMLS:C4024565" ], "is_a": [ "HP:0009153", "HP:0009390", "HP:0010276" ], "is_obsolete": "", "replace_id": "" }, "HP:0009160": { "name": [ "absent epiphysis of the proximal phalanx of the 5th finger", "absent epiphysis of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger.", "synonym": [ [ "absent end part of the innermost bone of little finger", "absent end part of the innermost bone of little finger" ], [ "absent end part of the innermost bone of pinkie finger", "absent end part of the innermost bone of pinkie finger" ], [ "absent end part of the innermost bone of pinky finger", "absent end part of the innermost bone of pinky finger" ] ], "xref": [ "UMLS:C4024564" ], "is_a": [ "HP:0009153", "HP:0009382", "HP:0010268" ], "is_obsolete": "", "replace_id": "" }, "HP:0009161": { "name": [ "aplasia / hypoplasia of the middle phalanx of the 5th finger", "aplasia / hypoplasia of the middle phalanx of the 5th finger" ], "alt_id": [ "HP:0006242" ], "def": "Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger.", "synonym": [ [ "absent / hypoplastic middle phalanx of 5th finger", "absent / hypoplastic middle phalanx of 5th finger" ], [ "absent / small middle bone of pinky finger", "absent / small middle bone of pinky finger" ], [ "absent / underdeveloped middle bone of little finger", "absent / underdevelop middle bone of little finger" ], [ "absent / underdeveloped middle bone of pinkie finger", "absent / underdevelop middle bone of pinkie finger" ], [ "absent / underdeveloped middle bone of pinky finger", "absent / underdevelop middle bone of pinky finger" ] ], "xref": [ "UMLS:C1834034" ], "is_a": [ "HP:0004219", "HP:0009376" ], "is_obsolete": "", "replace_id": "" }, "HP:0009162": { "name": [ "absent middle phalanx of 5th finger", "absent middle phalanx of 5th finger" ], "alt_id": [ "HP:0005774" ], "def": "Absence of the middle phalanx of the little (5th) finger.", "synonym": [ [ "absent middle bone of little finger", "absent middle bone of little finger" ], [ "absent middle bone of pinkie finger", "absent middle bone of pinkie finger" ], [ "absent middle bone of pinky finger", "absent middle bone of pinky finger" ], [ "aplasia of the middle phalanx of the 5th finger", "aplasia of the middle phalanx of the 5th finger" ] ], "xref": [ "UMLS:C3277750" ], "is_a": [ "HP:0009161", "HP:0009238", "HP:0010239" ], "is_obsolete": "", "replace_id": "" }, "HP:0009163": { "name": [ "obsolete abnormal form of the 5th finger", "obsolete abnormal form of the 5th finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0009164": { "name": [ "abnormal calcification of the carpal bones", "abnormal calcification of the carpal bone" ], "alt_id": [ "HP:0006154" ], "def": "", "synonym": [ [ "abnormal calcification of the wrist bones", "abnormal calcification of the wrist bone" ], [ "carpal calcifications", "carpal calcification" ] ], "xref": [ "UMLS:C1968592" ], "is_a": [ "HP:0006257", "HP:0010766" ], "is_obsolete": "", "replace_id": "" }, "HP:0009165": { "name": [ "stippling of the epiphysis of the distal phalanx of the 5th finger", "stippling of the epiphysis of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger.", "synonym": [ [ "speckled calcifications in end part of the outermost bone of little finger", "speckled calcification in end part of the outermost bone of little finger" ], [ "speckled calcifications in end part of the outermost bone of pinkie finger", "speckled calcification in end part of the outermost bone of pinkie finger" ], [ "speckled calcifications in end part of the outermost bone of pinky finger", "speckled calcification in end part of the outermost bone of pinky finger" ] ], "xref": [ "UMLS:C4024563" ], "is_a": [ "HP:0009198", "HP:0009391", "HP:0010255" ], "is_obsolete": "", "replace_id": "" }, "HP:0009166": { "name": [ "fragmentation of the epiphysis of the distal phalanx of the 5th finger", "fragmentation of the epiphysis of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger.", "synonym": [ [ "fragmentation of end part of the outermost bone of little finger", "fragmentation of end part of the outermost bone of little finger" ], [ "fragmentation of end part of the outermost bone of pinkie finger", "fragmentation of end part of the outermost bone of pinkie finger" ], [ "fragmentation of end part of the outermost bone of pinky finger", "fragmentation of end part of the outermost bone of pinky finger" ] ], "xref": [ "UMLS:C4024562" ], "is_a": [ "HP:0009198", "HP:0009386", "HP:0010250" ], "is_obsolete": "", "replace_id": "" }, "HP:0009167": { "name": [ "irregular epiphysis of the distal phalanx of the 5th finger", "irregular epiphysis of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger.", "synonym": [ [ "irregular end part of the outermost bone of little finger", "irregular end part of the outermost bone of little finger" ], [ "irregular end part of the outermost bone of pinkie finger", "irregular end part of the outermost bone of pinkie finger" ], [ "irregular end part of the outermost bone of pinky finger", "irregular end part of the outermost bone of pinky finger" ] ], "xref": [ "UMLS:C4024561" ], "is_a": [ "HP:0009198", "HP:0009387", "HP:0010251" ], "is_obsolete": "", "replace_id": "" }, "HP:0009168": { "name": [ "bullet - shaped middle phalanx of the 5th finger", "bullet - shape middle phalanx of the 5th finger" ], "alt_id": [], "def": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected.", "synonym": [ [ "bullet - shaped middle little finger bone", "bullet - shape middle little finger bone" ], [ "bullet - shaped middle pinkie finger bone", "bullet - shape middle pinkie finger bone" ], [ "bullet - shaped middle pinky finger bone", "bullet - shape middle pinky finger bone" ] ], "xref": [ "UMLS:C4024560" ], "is_a": [ "HP:0004219", "HP:0009375", "HP:0009845" ], "is_obsolete": "", "replace_id": "" }, "HP:0009169": { "name": [ "broad middle phalanx of the 5th finger", "broad middle phalanx of the 5th finger" ], "alt_id": [], "def": "Increased width of the middle phalanx of the 5th finger.", "synonym": [ [ "broad middle bone of little finger", "broad middle bone of little finger" ], [ "broad middle bone of pinkie finger", "broad middle bone of pinkie finger" ], [ "broad middle bone of pinky finger", "broad middle bone of pinky finger" ], [ "wide middle phalanx of the 5th finger", "wide middle phalanx of the 5th finger" ] ], "xref": [ "UMLS:C4021517" ], "is_a": [ "HP:0004219", "HP:0009374", "HP:0009844" ], "is_obsolete": "", "replace_id": "" }, "HP:0009170": { "name": [ "osteolytic defects of the middle phalanx of the 5th finger", "osteolytic defect of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger.", "synonym": [], "xref": [ "UMLS:C4024559" ], "is_a": [ "HP:0004216", "HP:0004219", "HP:0009847" ], "is_obsolete": "", "replace_id": "" }, "HP:0009171": { "name": [ "triangular epiphyses of the metacarpals", "triangular epiphysis of the metacarpal" ], "alt_id": [], "def": "A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals.", "synonym": [ [ "triangular end part of the long bone of hand", "triangular end part of the long bone of hand" ] ], "xref": [ "UMLS:C4024558" ], "is_a": [ "HP:0005913", "HP:0010587" ], "is_obsolete": "", "replace_id": "" }, "HP:0009172": { "name": [ "abnormal 4th finger phalanx morphology", "abnormal 4th finger phalanx morphology" ], "alt_id": [ "HP:0004191" ], "def": "Abnormality of the phalanges of the 4th (ring) finger.", "synonym": [ [ "abnormal bones of 4th finger", "abnormal bone of 4th finger" ], [ "abnormality of the phalanges of the ring finger", "abnormality of the phalanx of the ring finger" ] ], "xref": [ "UMLS:C4021516" ], "is_a": [ "HP:0004188", "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0009173": { "name": [ "curved middle phalanx of the 5th finger", "curve middle phalanx of the 5th finger" ], "alt_id": [], "def": "Curved appearance of the middle phalanx of the 5th finger.", "synonym": [ [ "curved middle bone of little finger", "curve middle bone of little finger" ], [ "curved middle bone of pinkie finger", "curve middle bone of pinkie finger" ], [ "curved middle bone of pinky finger", "curve middle bone of pinky finger" ] ], "xref": [ "UMLS:C4024557" ], "is_a": [ "HP:0004214", "HP:0004219", "HP:0009846" ], "is_obsolete": "", "replace_id": "" }, "HP:0009174": { "name": [ "abnormality of the epiphyses of the 4th finger", "abnormality of the epiphysis of the 4th finger" ], "alt_id": [], "def": "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger.", "synonym": [ [ "abnormality of the end part of the ring finger", "abnormality of the end part of the ring finger" ] ], "xref": [ "UMLS:C4024556" ], "is_a": [ "HP:0004188", "HP:0005920" ], "is_obsolete": "", "replace_id": "" }, "HP:0009175": { "name": [ "patchy sclerosis of the middle phalanx of the 5th finger", "patchy sclerosis of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "Patchy increase in bone density of the middle phalanx of the 5th finger.", "synonym": [ [ "uneven increase in bone density in the middle bone of the little finger", "uneven increase in bone density in the middle bone of the little finger" ], [ "uneven increase in bone density in the middle bone of the pinkie finger", "uneven increase in bone density in the middle bone of the pinkie finger" ], [ "uneven increase in bone density in the middle bone of the pinky finger", "uneven increase in bone density in the middle bone of the pinky finger" ] ], "xref": [ "UMLS:C4024555" ], "is_a": [ "HP:0004219", "HP:0009377", "HP:0009848", "HP:0100907" ], "is_obsolete": "", "replace_id": "" }, "HP:0009177": { "name": [ "proximal / middle symphalangism of 5th finger", "proximal / middle symphalangism of 5th finger" ], "alt_id": [ "HP:0005835", "HP:0006025", "HP:0009235" ], "def": "Fusion of the proximal and middle phalanges of the 5th finger.", "synonym": [ [ "fused innermost and middle bones of little finger", "fuse innermost and middle bone of little finger" ], [ "fused innermost and middle bones of pinkie finger", "fuse innermost and middle bone of pinkie finger" ], [ "fused innermost and middle bones of pinky finger", "fuse innermost and middle bone of pinky finger" ], [ "proximal 5th finger symphalangism", "proximal 5th finger symphalangism" ], [ "proximal fifth finger symphalangism", "proximal fifth finger symphalangism" ], [ "symphalangism of the proximal and middle phalanges of the 5th finger", "symphalangism of the proximal and middle phalanx of the 5th finger" ] ], "xref": [ "UMLS:C1836212" ], "is_a": [ "HP:0006152", "HP:0009178", "HP:0009232" ], "is_obsolete": "", "replace_id": "" }, "HP:0009178": { "name": [ "symphalangism of middle phalanx of 5th finger", "symphalangism of middle phalanx of 5th finger" ], "alt_id": [], "def": "Fusion of the middle phalanx of the 5th finger with another bone.", "synonym": [ [ "fused middle bones of little finger", "fuse middle bone of little finger" ], [ "fused middle bones of pinkie finger", "fuse middle bone of pinkie finger" ], [ "fused middle bones of pinky finger", "fuse middle bone of pinky finger" ] ], "xref": [ "UMLS:C4024554" ], "is_a": [ "HP:0004218", "HP:0004219", "HP:0009849" ], "is_obsolete": "", "replace_id": "" }, "HP:0009179": { "name": [ "deviation of the 5th finger", "deviation of the 5th finger" ], "alt_id": [ "HP:0006036" ], "def": "Displacement of the 5th finger from its normal position.", "synonym": [ [ "displaced little finger", "displace little finger" ], [ "displaced pinkie finger", "displace pinkie finger" ], [ "displaced pinky finger", "displace pinky finger" ], [ "laterally displaced fifth finger", "laterally displace fifth finger" ] ], "xref": [ "UMLS:C4021515" ], "is_a": [ "HP:0004097", "HP:0004207" ], "is_obsolete": "", "replace_id": "" }, "HP:0009180": { "name": [ "ulnar deviation of the 5th finger", "ulnar deviation of the 5th finger" ], "alt_id": [], "def": "Displacement of the 5th finger towards the ulnar side.", "synonym": [], "xref": [ "UMLS:C4024553" ], "is_a": [ "HP:0009179", "HP:0009465" ], "is_obsolete": "", "replace_id": "" }, "HP:0009182": { "name": [ "triangular shaped middle phalanx of the 5th finger", "triangular shape middle phalanx of the 5th finger" ], "alt_id": [], "def": "Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.", "synonym": [ [ "triangular shaped middle little finger bone", "triangular shape middle little finger bone" ], [ "triangular shaped middle pinkie finger bone", "triangular shape middle pinkie finger bone" ], [ "triangular shaped middle pinky finger bone", "triangular shape middle pinky finger bone" ] ], "xref": [ "UMLS:C4024552" ], "is_a": [ "HP:0004219", "HP:0009378", "HP:0009850" ], "is_obsolete": "", "replace_id": "" }, "HP:0009183": { "name": [ "joint contracture of the 5th finger", "joint contracture of the 5th finger" ], "alt_id": [ "HP:0001184" ], "def": "Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.", "synonym": [ [ "5th finger camptodactyly", "5th finger camptodactyly" ], [ "fifth finger camptodactyly", "fifth finger camptodactyly" ] ], "xref": [ "UMLS:C1865702" ], "is_a": [ "HP:0004207", "HP:0012785" ], "is_obsolete": "", "replace_id": "" }, "HP:0009184": { "name": [ "contracture of the distal interphalangeal joint of the 5th finger", "contracture of the distal interphalangeal joint of the 5th finger" ], "alt_id": [], "def": "Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.", "synonym": [], "xref": [ "UMLS:C4024551" ], "is_a": [ "HP:0009183", "HP:0009697" ], "is_obsolete": "", "replace_id": "" }, "HP:0009185": { "name": [ "contracture of the proximal interphalangeal joint of the 5th finger", "contracture of the proximal interphalangeal joint of the 5th finger" ], "alt_id": [ "HP:0005047", "HP:0006062" ], "def": "Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.", "synonym": [], "xref": [ "UMLS:C3554612" ], "is_a": [ "HP:0009183", "HP:0100490" ], "is_obsolete": "", "replace_id": "" }, "HP:0009186": { "name": [ "contracture of the metacarpophalangeal joint of the 5th finger", "contracture of the metacarpophalangeal joint of the 5th finger" ], "alt_id": [], "def": "Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue.", "synonym": [], "xref": [ "UMLS:C4024550" ], "is_a": [ "HP:0009183" ], "is_obsolete": "", "replace_id": "" }, "HP:0009187": { "name": [ "bracket epiphysis of the distal phalanx of the 5th finger", "bracket epiphysis of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of the outermost little finger bone", "bracket shape end part of the outermost little finger bone" ], [ "bracket shaped end part of the outermost pinkie finger bone", "bracket shape end part of the outermost pinkie finger bone" ], [ "bracket shaped end part of the outermost pinky finger bone", "bracket shape end part of the outermost pinky finger bone" ] ], "xref": [ "UMLS:C4024549" ], "is_a": [ "HP:0009198", "HP:0009383", "HP:0010247" ], "is_obsolete": "", "replace_id": "" }, "HP:0009188": { "name": [ "pseudoepiphysis of the distal phalanx of the 5th finger", "pseudoepiphysis of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [], "xref": [ "UMLS:C4024548" ], "is_a": [ "HP:0009198", "HP:0009389", "HP:0010253" ], "is_obsolete": "", "replace_id": "" }, "HP:0009189": { "name": [ "fragmentation of the metacarpal epiphyses", "fragmentation of the metacarpal epiphysis" ], "alt_id": [], "def": "Fragmented appearance of the epiphyses of the metacarpals.", "synonym": [ [ "fragmentation of end part of the long bone of hand", "fragmentation of end part of the long bone of hand" ] ], "xref": [ "UMLS:C4024547" ], "is_a": [ "HP:0003841", "HP:0005913" ], "is_obsolete": "", "replace_id": "" }, "HP:0009190": { "name": [ "irregular epiphyses of the metacarpals", "irregular epiphysis of the metacarpal" ], "alt_id": [], "def": "Irregular radiographic opacity of the epiphyses of the metacarpals.", "synonym": [ [ "irregular end part of the long bone of hand", "irregular end part of the long bone of hand" ] ], "xref": [ "UMLS:C4024546" ], "is_a": [ "HP:0003842", "HP:0005913" ], "is_obsolete": "", "replace_id": "" }, "HP:0009191": { "name": [ "ivory epiphyses of the metacarpals", "ivory epiphysis of the metacarpal" ], "alt_id": [], "def": "Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the long bone of hands", "increase bone density of end part of the long bone of hand" ] ], "xref": [ "UMLS:C4024545" ], "is_a": [ "HP:0005913", "HP:0010583", "HP:0011001" ], "is_obsolete": "", "replace_id": "" }, "HP:0009192": { "name": [ "aplasia / hypoplasia of the proximal phalanx of the 5th finger", "aplasia / hypoplasia of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger.", "synonym": [ [ "absent / small innermost little finger bone", "absent / small innermost little finger bone" ], [ "absent / small innermost pinkie finger bone", "absent / small innermost pinkie finger bone" ], [ "absent / small innermost pinky finger bone", "absent / small innermost pinky finger bone" ], [ "absent / underdeveloped innermost pinky finger bone", "absent / underdevelop innermost pinky finger bone" ] ], "xref": [ "UMLS:C4024544" ], "is_a": [ "HP:0009150", "HP:0009376" ], "is_obsolete": "", "replace_id": "" }, "HP:0009193": { "name": [ "pseudoepiphyses of the metacarpals", "pseudoepiphyses of the metacarpal" ], "alt_id": [ "HP:0006091", "HP:0006164" ], "def": "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone.", "synonym": [ [ "accessory proximal metacarpal ossification centers", "accessory proximal metacarpal ossification center" ], [ "accessory proximal metacarpal ossification centres", "accessory proximal metacarpal ossification centre" ], [ "metacarpal pseudoepiphyses", "metacarpal pseudoepiphyses" ] ], "xref": [ "UMLS:C1860253" ], "is_a": [ "HP:0004288", "HP:0005913" ], "is_obsolete": "", "replace_id": "" }, "HP:0009194": { "name": [ "small epiphyses of the metacarpals", "small epiphysis of the metacarpal" ], "alt_id": [], "def": "Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms.", "synonym": [ [ "small end part of the long bone of hand", "small end part of the long bone of hand" ] ], "xref": [ "UMLS:C4024543" ], "is_a": [ "HP:0005913", "HP:0010585" ], "is_obsolete": "", "replace_id": "" }, "HP:0009195": { "name": [ "epiphyseal stippling of the metacarpals", "epiphyseal stippling of the metacarpal" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals.", "synonym": [ [ "speckled calcifications in end part of the long bone of hand", "speckled calcification in end part of the long bone of hand" ], [ "stippling of the epiphyses of the metacarpals", "stippling of the epiphysis of the metacarpal" ] ], "xref": [ "UMLS:C4021514" ], "is_a": [ "HP:0005913", "HP:0010655", "HP:0010660" ], "is_obsolete": "", "replace_id": "" }, "HP:0009196": { "name": [ "absent metacarpal epiphyses", "absent metacarpal epiphysis" ], "alt_id": [ "HP:0006013" ], "def": "Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.", "synonym": [ [ "absent end part of the long bone of hand", "absent end part of the long bone of hand" ], [ "absent metacarpal ossification center", "absent metacarpal ossification center" ], [ "absent metacarpal ossification centre", "absent metacarpal ossification centre" ] ], "xref": [ "UMLS:C4021513" ], "is_a": [ "HP:0005913", "HP:0010577" ], "is_obsolete": "", "replace_id": "" }, "HP:0009197": { "name": [ "bracket epiphysis of the proximal phalanx of the 5th finger", "bracket epiphysis of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of the innermost bone of the little finger", "bracket shape end part of the innermost bone of the little finger" ], [ "bracket shaped end part of the innermost bone of the pinkie finger", "bracket shape end part of the innermost bone of the pinkie finger" ], [ "bracket shaped end part of the innermost bone of the pinky finger", "bracket shape end part of the innermost bone of the pinky finger" ] ], "xref": [ "UMLS:C4024542" ], "is_a": [ "HP:0009153", "HP:0009383", "HP:0010269" ], "is_obsolete": "", "replace_id": "" }, "HP:0009198": { "name": [ "abnormality of the epiphysis of the distal phalanx of the 5th finger", "abnormality of the epiphysis of the distal phalanx of the 5th finger" ], "alt_id": [ "HP:0004228" ], "def": "Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.", "synonym": [ [ "abnormality of end part of the outermost bone of the little finger", "abnormality of end part of the outermost bone of the little finger" ], [ "abnormality of end part of the outermost bone of the pinkie finger", "abnormality of end part of the outermost bone of the pinkie finger" ], [ "abnormality of end part of the outermost bone of the pinky finger", "abnormality of end part of the outermost bone of the pinky finger" ], [ "abnormality of the epiphysis of the terminal phalanx of the little finger", "abnormality of the epiphysis of the terminal phalanx of the little finger" ] ], "xref": [ "UMLS:C4021512" ], "is_a": [ "HP:0004225", "HP:0009152", "HP:0010243" ], "is_obsolete": "", "replace_id": "" }, "HP:0009199": { "name": [ "irregular epiphysis of the proximal phalanx of the 5th finger", "irregular epiphysis of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger.", "synonym": [ [ "irregular end part of the innermost little finger bone", "irregular end part of the innermost little finger bone" ], [ "irregular end part of the innermost pinkie finger bone", "irregular end part of the innermost pinkie finger bone" ], [ "irregular end part of the innermost pinky finger bone", "irregular end part of the innermost pinky finger bone" ] ], "xref": [ "UMLS:C4024541" ], "is_a": [ "HP:0009153", "HP:0009387", "HP:0010273" ], "is_obsolete": "", "replace_id": "" }, "HP:0009200": { "name": [ "pseudoepiphysis of the proximal phalanx of the 5th finger", "pseudoepiphysis of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [], "xref": [ "UMLS:C4024540" ], "is_a": [ "HP:0009153", "HP:0009389", "HP:0010275" ], "is_obsolete": "", "replace_id": "" }, "HP:0009201": { "name": [ "stippling of the epiphysis of the proximal phalanx of the 5th finger", "stippling of the epiphysis of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger.", "synonym": [ [ "speckled calcifications in end part of the innnermost bone of the little finger", "speckled calcification in end part of the innnermost bone of the little finger" ], [ "speckled calcifications in end part of the innnermost bone of the pinkie finger", "speckled calcification in end part of the innnermost bone of the pinkie finger" ], [ "speckled calcifications in end part of the innnermost bone of the pinky finger", "speckled calcification in end part of the innnermost bone of the pinky finger" ] ], "xref": [ "UMLS:C4024539" ], "is_a": [ "HP:0009153", "HP:0009391", "HP:0010277" ], "is_obsolete": "", "replace_id": "" }, "HP:0009202": { "name": [ "fragmentation of the epiphysis of the proximal phalanx of the 5th finger", "fragmentation of the epiphysis of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger.", "synonym": [ [ "fragmentation of end part of the innermost bone of the little finger", "fragmentation of end part of the innermost bone of the little finger" ], [ "fragmentation of end part of the innermost bone of the pinkie finger", "fragmentation of end part of the innermost bone of the pinkie finger" ], [ "fragmentation of end part of the innermost bone of the pinky finger", "fragmentation of end part of the innermost bone of the pinky finger" ] ], "xref": [ "UMLS:C4024538" ], "is_a": [ "HP:0009153", "HP:0009386", "HP:0010272" ], "is_obsolete": "", "replace_id": "" }, "HP:0009203": { "name": [ "absent epiphysis of the middle phalanx of the 5th finger", "absent epiphysis of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger.", "synonym": [ [ "absent end part of the middle bone of the little finger", "absent end part of the middle bone of the little finger" ], [ "absent end part of the middle bone of the pinkie finger", "absent end part of the middle bone of the pinkie finger" ], [ "absent end part of the middle bone of the pinky finger", "absent end part of the middle bone of the pinky finger" ] ], "xref": [ "UMLS:C4024537" ], "is_a": [ "HP:0004224", "HP:0009382", "HP:0010257" ], "is_obsolete": "", "replace_id": "" }, "HP:0009204": { "name": [ "bracket epiphysis of the middle phalanx of the 5th finger", "bracket epiphysis of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of the middle bone of the little finger", "bracket shape end part of the middle bone of the little finger" ], [ "bracket shaped end part of the middle bone of the pinkie finger", "bracket shape end part of the middle bone of the pinkie finger" ], [ "bracket shaped end part of the middle bone of the pinky finger", "bracket shape end part of the middle bone of the pinky finger" ] ], "xref": [ "UMLS:C4024536" ], "is_a": [ "HP:0004224", "HP:0009383", "HP:0010258" ], "is_obsolete": "", "replace_id": "" }, "HP:0009205": { "name": [ "cone - shaped epiphysis of the middle phalanx of the 5th finger", "cone - shaped epiphysis of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.", "synonym": [ [ "cone - shaped end part of the middle bone of the little finger", "cone - shaped end part of the middle bone of the little finger" ], [ "cone - shaped end part of the middle bone of the pinkie finger", "cone - shaped end part of the middle bone of the pinkie finger" ], [ "cone - shaped end part of the middle bone of the pinky finger", "cone - shaped end part of the middle bone of the pinky finger" ] ], "xref": [ "UMLS:C4024535" ], "is_a": [ "HP:0004224", "HP:0009384", "HP:0010259" ], "is_obsolete": "", "replace_id": "" }, "HP:0009206": { "name": [ "enlarged epiphysis of the middle phalanx of the 5th finger", "enlarged epiphysis of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of the middle bone of the little finger", "enlarged end part of the middle bone of the little finger" ], [ "enlarged end part of the middle bone of the pinkie finger", "enlarged end part of the middle bone of the pinkie finger" ], [ "enlarged end part of the middle bone of the pinky finger", "enlarged end part of the middle bone of the pinky finger" ] ], "xref": [ "UMLS:C4024534" ], "is_a": [ "HP:0004224", "HP:0009385", "HP:0010260" ], "is_obsolete": "", "replace_id": "" }, "HP:0009207": { "name": [ "fragmentation of the epiphysis of the middle phalanx of the 5th finger", "fragmentation of the epiphysis of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger.", "synonym": [ [ "fragmentation of end part of the middle bone of the little finger", "fragmentation of end part of the middle bone of the little finger" ], [ "fragmentation of end part of the middle bone of the pinkie finger", "fragmentation of end part of the middle bone of the pinkie finger" ], [ "fragmentation of end part of the middle bone of the pinky finger", "fragmentation of end part of the middle bone of the pinky finger" ] ], "xref": [ "UMLS:C4024533" ], "is_a": [ "HP:0004224", "HP:0009386", "HP:0010261" ], "is_obsolete": "", "replace_id": "" }, "HP:0009208": { "name": [ "irregular epiphysis of the middle phalanx of the 5th finger", "irregular epiphysis of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger.", "synonym": [ [ "irregular end part of the middle bone of the little finger", "irregular end part of the middle bone of the little finger" ], [ "irregular end part of the middle bone of the pinkie finger", "irregular end part of the middle bone of the pinkie finger" ], [ "irregular end part of the middle bone of the pinky finger", "irregular end part of the middle bone of the pinky finger" ] ], "xref": [ "UMLS:C4024532" ], "is_a": [ "HP:0004224", "HP:0009387", "HP:0010262" ], "is_obsolete": "", "replace_id": "" }, "HP:0009209": { "name": [ "ivory epiphysis of the middle phalanx of the 5th finger", "ivory epiphysis of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the middle bone of little finger", "increase bone density of end part of the middle bone of little finger" ], [ "increased bone density of end part of the middle bone of pinkie finger", "increase bone density of end part of the middle bone of pinkie finger" ], [ "increased bone density of end part of the middle bone of pinky finger", "increase bone density of end part of the middle bone of pinky finger" ] ], "xref": [ "UMLS:C4024531" ], "is_a": [ "HP:0004224", "HP:0009388", "HP:0010263" ], "is_obsolete": "", "replace_id": "" }, "HP:0009210": { "name": [ "pseudoepiphysis of the middle phalanx of the 5th finger", "pseudoepiphysis of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [], "xref": [ "UMLS:C4024530" ], "is_a": [ "HP:0004224", "HP:0009389", "HP:0010264" ], "is_obsolete": "", "replace_id": "" }, "HP:0009211": { "name": [ "small epiphysis of the middle phalanx of the 5th finger", "small epiphysis of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.", "synonym": [ [ "small end part of the middle bone of the little finger", "small end part of the middle bone of the little finger" ], [ "small end part of the middle bone of the pinkie finger", "small end part of the middle bone of the pinkie finger" ], [ "small end part of the middle bone of the pinky finger", "small end part of the middle bone of the pinky finger" ] ], "xref": [ "UMLS:C4024529" ], "is_a": [ "HP:0004224", "HP:0009390", "HP:0010265" ], "is_obsolete": "", "replace_id": "" }, "HP:0009212": { "name": [ "stippling of the epiphysis of the middle phalanx of the 5th finger", "stippling of the epiphysis of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger.", "synonym": [ [ "speckled calcifications in end part of the middle bone of the little finger", "speckled calcification in end part of the middle bone of the little finger" ], [ "speckled calcifications in end part of the middle bone of the pinkie finger", "speckled calcification in end part of the middle bone of the pinkie finger" ], [ "speckled calcifications in end part of the middle bone of the pinky finger", "speckled calcification in end part of the middle bone of the pinky finger" ] ], "xref": [ "UMLS:C4024528" ], "is_a": [ "HP:0004224", "HP:0009391", "HP:0010266" ], "is_obsolete": "", "replace_id": "" }, "HP:0009213": { "name": [ "triangular epiphysis of the middle phalanx of the 5th finger", "triangular epiphysis of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.", "synonym": [ [ "delta - shaped epiphysis of the middle phalanx of the 5th finger", "delta - shaped epiphysis of the middle phalanx of the 5th finger" ], [ "triangular end part of the middle bone of the little finger", "triangular end part of the middle bone of the little finger" ], [ "triangular end part of the middle bone of the pinkie finger", "triangular end part of the middle bone of the pinkie finger" ], [ "triangular end part of the middle bone of the pinky finger", "triangular end part of the middle bone of the pinky finger" ] ], "xref": [ "UMLS:C4021511" ], "is_a": [ "HP:0004224", "HP:0009392", "HP:0010267" ], "is_obsolete": "", "replace_id": "" }, "HP:0009214": { "name": [ "absent epiphysis of the middle phalanx of the 4th finger", "absent epiphysis of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger.", "synonym": [ [ "absent end part of the middle bone of the ring finger", "absent end part of the middle bone of the ring finger" ] ], "xref": [ "UMLS:C4024527" ], "is_a": [ "HP:0009247", "HP:0009393", "HP:0010257" ], "is_obsolete": "", "replace_id": "" }, "HP:0009215": { "name": [ "bracket epiphysis of the middle phalanx of the 4th finger", "bracket epiphysis of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of the middle bone of the ring finger", "bracket shape end part of the middle bone of the ring finger" ] ], "xref": [ "UMLS:C4024526" ], "is_a": [ "HP:0009247", "HP:0009394", "HP:0010258" ], "is_obsolete": "", "replace_id": "" }, "HP:0009216": { "name": [ "cone - shaped epiphysis of the middle phalanx of the 4th finger", "cone - shaped epiphysis of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.", "synonym": [ [ "cone - shaped end part of the middle bone of the ring finger", "cone - shaped end part of the middle bone of the ring finger" ] ], "xref": [ "UMLS:C4024525" ], "is_a": [ "HP:0009247", "HP:0009395", "HP:0010259" ], "is_obsolete": "", "replace_id": "" }, "HP:0009217": { "name": [ "enlarged epiphysis of the middle phalanx of the 4th finger", "enlarged epiphysis of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of the middle bone of the ring finger", "enlarged end part of the middle bone of the ring finger" ] ], "xref": [ "UMLS:C4024524" ], "is_a": [ "HP:0009247", "HP:0009396", "HP:0010260" ], "is_obsolete": "", "replace_id": "" }, "HP:0009218": { "name": [ "fragmentation of the epiphysis of the middle phalanx of the 4th finger", "fragmentation of the epiphysis of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger.", "synonym": [ [ "fragmentation of end part of the middle bone of the ring finger", "fragmentation of end part of the middle bone of the ring finger" ] ], "xref": [ "UMLS:C4024523" ], "is_a": [ "HP:0009247", "HP:0009397", "HP:0010261" ], "is_obsolete": "", "replace_id": "" }, "HP:0009219": { "name": [ "irregular epiphysis of the middle phalanx of the 4th finger", "irregular epiphysis of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger.", "synonym": [ [ "irregular end part of the middle bone of the ring finger", "irregular end part of the middle bone of the ring finger" ] ], "xref": [ "UMLS:C4024522" ], "is_a": [ "HP:0009247", "HP:0009398", "HP:0010262" ], "is_obsolete": "", "replace_id": "" }, "HP:0009220": { "name": [ "ivory epiphysis of the middle phalanx of the 4th finger", "ivory epiphysis of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the middle ring finger bone", "increase bone density of end part of the middle ring finger bone" ] ], "xref": [ "UMLS:C4024521" ], "is_a": [ "HP:0009247", "HP:0009399", "HP:0010263" ], "is_obsolete": "", "replace_id": "" }, "HP:0009221": { "name": [ "pseudoepiphysis of the middle phalanx of the 4th finger", "pseudoepiphysis of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [], "xref": [ "UMLS:C4024520" ], "is_a": [ "HP:0009247", "HP:0009400", "HP:0010264" ], "is_obsolete": "", "replace_id": "" }, "HP:0009222": { "name": [ "small epiphysis of the middle phalanx of the 4th finger", "small epiphysis of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.", "synonym": [ [ "small end part of the middle bone of the ring finger", "small end part of the middle bone of the ring finger" ] ], "xref": [ "UMLS:C4024519" ], "is_a": [ "HP:0009247", "HP:0009401", "HP:0010265" ], "is_obsolete": "", "replace_id": "" }, "HP:0009223": { "name": [ "stippling of the epiphysis of the middle phalanx of the 4th finger", "stippling of the epiphysis of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger.", "synonym": [ [ "speckled calcifications in end part of the middle bone of the ring finger", "speckled calcification in end part of the middle bone of the ring finger" ] ], "xref": [ "UMLS:C4024518" ], "is_a": [ "HP:0009247", "HP:0009402", "HP:0010266" ], "is_obsolete": "", "replace_id": "" }, "HP:0009224": { "name": [ "triangular epiphysis of the middle phalanx of the 4th finger", "triangular epiphysis of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.", "synonym": [ [ "delta - shaped epiphysis of the middle phalanx of the 4th finger", "delta - shaped epiphysis of the middle phalanx of the 4th finger" ], [ "triangular end part of the middle bone of the ring finger", "triangular end part of the middle bone of the ring finger" ] ], "xref": [ "UMLS:C4021510" ], "is_a": [ "HP:0009247", "HP:0009403", "HP:0010267" ], "is_obsolete": "", "replace_id": "" }, "HP:0009225": { "name": [ "aplasia of the proximal phalanx of the 5th finger", "aplasia of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Absence of the proximal phalanx of the little (5th) finger.", "synonym": [ [ "absent innermost bone of little finger", "absent innermost bone of little finger" ], [ "absent innermost bone of pinkie finger", "absent innermost bone of pinkie finger" ], [ "absent innermost bone of pinky finger", "absent innermost bone of pinky finger" ] ], "xref": [ "UMLS:C4024517" ], "is_a": [ "HP:0009192", "HP:0009238", "HP:0010242" ], "is_obsolete": "", "replace_id": "" }, "HP:0009226": { "name": [ "short proximal phalanx of the 5th finger", "short proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Hypoplastic/small proximal phalanx of the fifth finger.", "synonym": [ [ "hypoplastic / small proximal phalanx of the 5th finger", "hypoplastic / small proximal phalanx of the 5th finger" ], [ "short innermost little finger bone", "short innermost little finger bone" ], [ "short innermost pinkie finger bone", "short innermost pinkie finger bone" ], [ "short innermost pinky finger bone", "short innermost pinky finger bone" ], [ "short proximal phalanx of the fifth finger", "short proximal phalanx of the fifth finger" ] ], "xref": [ "UMLS:C4021509" ], "is_a": [ "HP:0009192", "HP:0009237", "HP:0010241" ], "is_obsolete": "", "replace_id": "" }, "HP:0009227": { "name": [ "broad proximal phalanx of the 5th finger", "broad proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Increased width of the proximal phalanx of the 5th finger.", "synonym": [ [ "broad innermost little finger bone", "broad innermost little finger bone" ], [ "broad innermost pinkie finger bone", "broad innermost pinkie finger bone" ], [ "broad innermost pinky finger bone", "broad innermost pinky finger bone" ], [ "wide proximal phalanx of the 5th finger", "wide proximal phalanx of the 5th finger" ] ], "xref": [ "UMLS:C4021508" ], "is_a": [ "HP:0009150", "HP:0009374", "HP:0009852" ], "is_obsolete": "", "replace_id": "" }, "HP:0009228": { "name": [ "bullet - shaped proximal phalanx of the 5th finger", "bullet - shape proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected.", "synonym": [ [ "bullet - shaped innermost little finger bone", "bullet - shape innermost little finger bone" ], [ "bullet - shaped innermost pinkie finger bone", "bullet - shape innermost pinkie finger bone" ], [ "bullet - shaped innermost pinky finger bone", "bullet - shape innermost pinky finger bone" ] ], "xref": [ "UMLS:C4024516" ], "is_a": [ "HP:0009150", "HP:0009375", "HP:0009853" ], "is_obsolete": "", "replace_id": "" }, "HP:0009229": { "name": [ "curved proximal phalanx of the 5th finger", "curve proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Curved appearance of the proximal phalanx of the 5th finger.", "synonym": [ [ "curved innermost bone of little finger", "curve innermost bone of little finger" ], [ "curved innermost bone of pinkie finger", "curve innermost bone of pinkie finger" ], [ "curved innermost bone of pinky finger", "curve innermost bone of pinky finger" ] ], "xref": [ "UMLS:C4024515" ], "is_a": [ "HP:0004214", "HP:0009150", "HP:0009854" ], "is_obsolete": "", "replace_id": "" }, "HP:0009230": { "name": [ "osteolytic defects of the proximal phalanx of the 5th finger", "osteolytic defect of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger.", "synonym": [], "xref": [ "UMLS:C4024514" ], "is_a": [ "HP:0004216", "HP:0009150", "HP:0009855" ], "is_obsolete": "", "replace_id": "" }, "HP:0009231": { "name": [ "patchy sclerosis of the proximal phalanx of the 5th finger", "patchy sclerosis of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Patchy increase in bone density of the proximal phalanx of the 5th finger.", "synonym": [ [ "uneven increase in bone density in the innermost bone of little finger", "uneven increase in bone density in the innermost bone of little finger" ], [ "uneven increase in bone density in the innermost bone of pinkie finger", "uneven increase in bone density in the innermost bone of pinkie finger" ], [ "uneven increase in bone density in the innermost bone of pinky finger", "uneven increase in bone density in the innermost bone of pinky finger" ] ], "xref": [ "UMLS:C4024513" ], "is_a": [ "HP:0009150", "HP:0009377", "HP:0009856", "HP:0100911" ], "is_obsolete": "", "replace_id": "" }, "HP:0009232": { "name": [ "symphalangism affecting the proximal phalanx of the 5th finger", "symphalangism affect the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Fusion of the proximal phalanx of the 5th finger with another bone.", "synonym": [ [ "fused innermost bone of little finger", "fuse innermost bone of little finger" ], [ "fused innermost bone of pinkie finger", "fuse innermost bone of pinkie finger" ], [ "fused innermost bone of pinky finger", "fuse innermost bone of pinky finger" ] ], "xref": [ "UMLS:C4024512" ], "is_a": [ "HP:0004218", "HP:0009150", "HP:0009857" ], "is_obsolete": "", "replace_id": "" }, "HP:0009233": { "name": [ "triangular shaped proximal phalanx of the 5th finger", "triangular shape proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.", "synonym": [ [ "triangular shaped innermost little finger bone", "triangular shape innermost little finger bone" ], [ "triangular shaped innermost pinkie finger bone", "triangular shape innermost pinkie finger bone" ], [ "triangular shaped innermost pinky finger bone", "triangular shape innermost pinky finger bone" ] ], "xref": [ "UMLS:C4024511" ], "is_a": [ "HP:0009150", "HP:0009378", "HP:0009858" ], "is_obsolete": "", "replace_id": "" }, "HP:0009234": { "name": [ "symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal", "symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal" ], "alt_id": [], "def": "Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal.", "synonym": [ [ "fused innermost bone of little finger with 5th long bone of hand", "fuse innermost bone of little finger with 5th long bone of hand" ], [ "fused innermost bone of pinkie finger with 5th long bone of hand", "fuse innermost bone of pinkie finger with 5th long bone of hand" ], [ "fused innermost bone of pinky finger with 5th long bone of hand", "fuse innermost bone of pinky finger with 5th long bone of hand" ] ], "xref": [ "UMLS:C4024510" ], "is_a": [ "HP:0005880", "HP:0009232", "HP:0009708" ], "is_obsolete": "", "replace_id": "" }, "HP:0009236": { "name": [ "rhomboid or triangular shaped 5th finger proximal phalanx", "rhomboid or triangular shape 5th finger proximal phalanx" ], "alt_id": [], "def": "Rhomboid or triangular shaped 5th (little) finger proximal phalanx.", "synonym": [ [ "rhomboid or triangular shaped innermost bone of little finger", "rhomboid or triangular shape innermost bone of little finger" ], [ "rhomboid or triangular shaped innermost bone of pinkie finger", "rhomboid or triangular shape innermost bone of pinkie finger" ], [ "rhomboid or triangular shaped innermost bone of pinky finger", "rhomboid or triangular shape innermost bone of pinky finger" ] ], "xref": [ "UMLS:C4024509" ], "is_a": [ "HP:0009233" ], "is_obsolete": "", "replace_id": "" }, "HP:0009237": { "name": [ "short 5th finger", "short 5th finger" ], "alt_id": [ "HP:0001205", "HP:0004208", "HP:0004210", "HP:0004211", "HP:0004215", "HP:0004217", "HP:0005804", "HP:0005888" ], "def": "Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.", "synonym": [ [ "fifth finger brachydactyly", "fifth finger brachydactyly" ], [ "hypoplastic phalanges of the little finger", "hypoplastic phalanx of the little finger" ], [ "hypoplastic / small 5th finger", "hypoplastic / small 5th finger" ], [ "hypoplastic / small little finger", "hypoplastic / small little finger" ], [ "short 5th finger", "short 5th finger" ], [ "short fifth finger", "short fifth finger" ], [ "short fifth fingers", "short fifth finger" ], [ "short little finger", "short little finger" ], [ "short phalanges of the little finger", "short phalanx of the little finger" ], [ "short pinkie finger", "short pinkie finger" ], [ "short pinky finger", "short pinky finger" ] ], "xref": [ "UMLS:C1842878" ], "is_a": [ "HP:0006262", "HP:0009381" ], "is_obsolete": "", "replace_id": "" }, "HP:0009238": { "name": [ "aplasia of the 5th finger", "aplasia of the 5th finger" ], "alt_id": [], "def": "Absent 5th (little) finger.", "synonym": [ [ "absent little finger", "absent little finger" ], [ "absent pinkie finger", "absent pinkie finger" ], [ "absent pinky finger", "absent pinky finger" ] ], "xref": [ "UMLS:C4024508" ], "is_a": [ "HP:0006262", "HP:0009380" ], "is_obsolete": "", "replace_id": "" }, "HP:0009239": { "name": [ "aplasia / hypoplasia of the distal phalanx of the 5th finger", "aplasia / hypoplasia of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small outermost bone of little finger", "absent / small outermost bone of little finger" ], [ "absent / small outermost bone of pinkie finger", "absent / small outermost bone of pinkie finger" ], [ "absent / small outermost bone of pinky finger", "absent / small outermost bone of pinky finger" ], [ "absent / underdeveloped outermost bone of pinky finger", "absent / underdevelop outermost bone of pinky finger" ] ], "xref": [ "UMLS:C4024507" ], "is_a": [ "HP:0004225", "HP:0009376" ], "is_obsolete": "", "replace_id": "" }, "HP:0009240": { "name": [ "broad distal phalanx of the 5th finger", "broad distal phalanx of the 5th finger" ], "alt_id": [], "def": "Increased width of the distal phalanx of the 5th finger.", "synonym": [ [ "broad outermost little finger bone", "broad outermost little finger bone" ], [ "broad outermost pinkie finger bone", "broad outermost pinkie finger bone" ], [ "broad outermost pinky finger bone", "broad outermost pinky finger bone" ], [ "wide outermost pinky finger bone", "wide outermost pinky finger bone" ] ], "xref": [ "UMLS:C4024506" ], "is_a": [ "HP:0004225", "HP:0009374", "HP:0009836" ], "is_obsolete": "", "replace_id": "" }, "HP:0009241": { "name": [ "bullet - shaped distal phalanx of the 5th finger", "bullet - shaped distal phalanx of the 5th finger" ], "alt_id": [], "def": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected.", "synonym": [ [ "bullet - shaped outermost little finger bone", "bullet - shape outermost little finger bone" ], [ "bullet - shaped outermost pinkie finger bone", "bullet - shape outermost pinkie finger bone" ], [ "bullet - shaped outermost pinky finger bone", "bullet - shape outermost pinky finger bone" ] ], "xref": [ "UMLS:C4024505" ], "is_a": [ "HP:0004225", "HP:0009375", "HP:0009837" ], "is_obsolete": "", "replace_id": "" }, "HP:0009242": { "name": [ "osteolytic defects of the distal phalanx of the 5th finger", "osteolytic defect of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger.", "synonym": [], "xref": [ "UMLS:C4024504" ], "is_a": [ "HP:0004216", "HP:0004225", "HP:0009839" ], "is_obsolete": "", "replace_id": "" }, "HP:0009243": { "name": [ "patchy sclerosis of the distal phalanx of the 5th finger", "patchy sclerosis of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "Patchy increase in bone density of the distal phalanx of the 5th finger.", "synonym": [ [ "uneven increase in bone density in the outermost bone of little finger", "uneven increase in bone density in the outermost bone of little finger" ], [ "uneven increase in bone density in the outermost bone of pinkie finger", "uneven increase in bone density in the outermost bone of pinkie finger" ], [ "uneven increase in bone density in the outermost bone of pinky finger", "uneven increase in bone density in the outermost bone of pinky finger" ] ], "xref": [ "UMLS:C4024503" ], "is_a": [ "HP:0004225", "HP:0009377", "HP:0009840", "HP:0100903" ], "is_obsolete": "", "replace_id": "" }, "HP:0009244": { "name": [ "distal / middle symphalangism of 5th finger", "distal / middle symphalangism of 5th finger" ], "alt_id": [ "HP:0006250", "HP:0009176" ], "def": "Fusion of the terminal/distal and middle phalanges of the 5th finger.", "synonym": [ [ "fifth finger distal interphalangeal joint symphalangism", "fifth finger distal interphalangeal joint symphalangism" ], [ "fused end and middle bones of little finger", "fused end and middle bone of little finger" ], [ "fused end and middle bones of pinkie finger", "fused end and middle bone of pinkie finger" ], [ "fused end and middle bones of pinky finger", "fused end and middle bone of pinky finger" ], [ "fusion of the terminal and middle phalanges of the 5th finger", "fusion of the terminal and middle phalanx of the 5th finger" ], [ "symphalangism of the distal and middle phalanges of the 5th finger", "symphalangism of the distal and middle phalanx of the 5th finger" ], [ "symphalangism of the terminal and middle phalanges of the 5th finger", "symphalangism of the terminal and middle phalanx of the 5th finger" ] ], "xref": [ "UMLS:C1868573", "UMLS:C4020781" ], "is_a": [ "HP:0001204", "HP:0004225", "HP:0009178" ], "is_obsolete": "", "replace_id": "" }, "HP:0009245": { "name": [ "triangular shaped distal phalanx of the 5th finger", "triangular shape distal phalanx of the 5th finger" ], "alt_id": [], "def": "Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.", "synonym": [ [ "triangular shaped outermost little finger bone", "triangular shape outermost little finger bone" ], [ "triangular shaped outermost pinkie finger bone", "triangular shape outermost pinkie finger bone" ], [ "triangular shaped outermost pinky finger bone", "triangular shape outermost pinky finger bone" ] ], "xref": [ "UMLS:C4024502" ], "is_a": [ "HP:0004225", "HP:0009378", "HP:0009875" ], "is_obsolete": "", "replace_id": "" }, "HP:0009246": { "name": [ "aplasia of the distal phalanx of the 5th finger", "aplasia of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "Absence of the distal phalanx of the little (5th) finger.", "synonym": [ [ "absent outermost little finger bone", "absent outermost little finger bone" ], [ "absent outermost pinkie finger bone", "absent outermost pinkie finger bone" ], [ "absent outermost pinky finger bone", "absent outermost pinky finger bone" ] ], "xref": [ "UMLS:C4024501" ], "is_a": [ "HP:0009238", "HP:0009239", "HP:0009881" ], "is_obsolete": "", "replace_id": "" }, "HP:0009247": { "name": [ "abnormality of the epiphysis of the middle phalanx of the 4th finger", "abnormality of the epiphysis of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the end part of the middle bone of the ring finger", "abnormality of the end part of the middle bone of the ring finger" ] ], "xref": [ "UMLS:C4024500" ], "is_a": [ "HP:0009174", "HP:0009283", "HP:0010244" ], "is_obsolete": "", "replace_id": "" }, "HP:0009248": { "name": [ "abnormality of the epiphysis of the proximal phalanx of the 4th finger", "abnormality of the epiphysis of the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the end part of the innermost bone of the ring finger", "abnormality of the end part of the innermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024499" ], "is_a": [ "HP:0009174", "HP:0009284", "HP:0010245" ], "is_obsolete": "", "replace_id": "" }, "HP:0009249": { "name": [ "abnormality of the epiphysis of the distal phalanx of the 4th finger", "abnormality of the epiphysis of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the end part of the outermost bone of the ring finger", "abnormality of the end part of the outermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024498" ], "is_a": [ "HP:0009174", "HP:0009282", "HP:0010243" ], "is_obsolete": "", "replace_id": "" }, "HP:0009250": { "name": [ "absent epiphysis of the distal phalanx of the 4th finger", "absent epiphysis of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger.", "synonym": [ [ "absent end part of the outermost bone of the ring finger", "absent end part of the outermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024497" ], "is_a": [ "HP:0009249", "HP:0009393", "HP:0010246" ], "is_obsolete": "", "replace_id": "" }, "HP:0009251": { "name": [ "bracket epiphysis of the distal phalanx of the 4th finger", "bracket epiphysis of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of the outermost bone of the ring finger", "bracket shape end part of the outermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024496" ], "is_a": [ "HP:0009249", "HP:0009394", "HP:0010247" ], "is_obsolete": "", "replace_id": "" }, "HP:0009252": { "name": [ "cone - shaped epiphysis of the distal phalanx of the 4th finger", "cone - shaped epiphysis of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.", "synonym": [ [ "cone - shaped end part of the outermost bone of the ring finger", "cone - shaped end part of the outermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024495" ], "is_a": [ "HP:0009249", "HP:0009395", "HP:0010248" ], "is_obsolete": "", "replace_id": "" }, "HP:0009253": { "name": [ "enlarged epiphysis of the distal phalanx of the 4th finger", "enlarged epiphysis of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of the outermost bone of the ring finger", "enlarged end part of the outermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024494" ], "is_a": [ "HP:0009249", "HP:0009396", "HP:0010249" ], "is_obsolete": "", "replace_id": "" }, "HP:0009254": { "name": [ "fragmentation of the epiphysis of the distal phalanx of the 4th finger", "fragmentation of the epiphysis of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger.", "synonym": [ [ "fragmentation of end part of the outermost bone of the ring finger", "fragmentation of end part of the outermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024493" ], "is_a": [ "HP:0009249", "HP:0009397", "HP:0010250" ], "is_obsolete": "", "replace_id": "" }, "HP:0009255": { "name": [ "irregular epiphysis of the distal phalanx of the 4th finger", "irregular epiphysis of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger.", "synonym": [ [ "irregular end part of the outermost bone of the ring finger", "irregular end part of the outermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024492" ], "is_a": [ "HP:0009249", "HP:0009398", "HP:0010251" ], "is_obsolete": "", "replace_id": "" }, "HP:0009256": { "name": [ "ivory epiphysis of the distal phalanx of the 4th finger", "ivory epiphysis of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the outermost ring finger bone", "increase bone density of end part of the outermost ring finger bone" ] ], "xref": [ "UMLS:C4024491" ], "is_a": [ "HP:0009249", "HP:0009399", "HP:0010252" ], "is_obsolete": "", "replace_id": "" }, "HP:0009257": { "name": [ "pseudoepiphysis of the distal phalanx of the 4th finger", "pseudoepiphysis of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [], "xref": [ "UMLS:C4024490" ], "is_a": [ "HP:0009249", "HP:0009400", "HP:0010253" ], "is_obsolete": "", "replace_id": "" }, "HP:0009258": { "name": [ "small epiphysis of the distal phalanx of the 4th finger", "small epiphysis of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.", "synonym": [ [ "small end part of the outermost bone of the ring finger", "small end part of the outermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024489" ], "is_a": [ "HP:0009249", "HP:0009401", "HP:0010254" ], "is_obsolete": "", "replace_id": "" }, "HP:0009259": { "name": [ "stippling of the epiphysis of the distal phalanx of the 4th finger", "stippling of the epiphysis of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger.", "synonym": [ [ "speckled calcifications in the end part of the outermost bone of the ring finger", "speckled calcification in the end part of the outermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024488" ], "is_a": [ "HP:0009249", "HP:0009402", "HP:0010255" ], "is_obsolete": "", "replace_id": "" }, "HP:0009260": { "name": [ "triangular epiphysis of the distal phalanx of the 4th finger", "triangular epiphysis of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.", "synonym": [ [ "delta - shaped epiphysis of the distal phalanx of the 4th finger", "delta - shaped epiphysis of the distal phalanx of the 4th finger" ], [ "triangular end part of the outermost bone of ring finger", "triangular end part of the outermost bone of ring finger" ] ], "xref": [ "UMLS:C4021507" ], "is_a": [ "HP:0009249", "HP:0009403", "HP:0010256" ], "is_obsolete": "", "replace_id": "" }, "HP:0009261": { "name": [ "absent epiphysis of the proximal phalanx of the 4th finger", "absent epiphysis of the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger.", "synonym": [ [ "absent end part of the innermost bone of the ring finger", "absent end part of the innermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024487" ], "is_a": [ "HP:0009248", "HP:0009393", "HP:0010268" ], "is_obsolete": "", "replace_id": "" }, "HP:0009262": { "name": [ "bracket epiphysis of the proximal phalanx of the 4th finger", "bracket epiphysis of the proximal phalanx of the 4th finger" ], "alt_id": [ "HP:0004200" ], "def": "An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket proximal epiphysis of the ring finger", "bracket proximal epiphysis of the ring finger" ], [ "bracket shaped end part of the innermost bone of the ring finger", "bracket shape end part of the innermost bone of the ring finger" ] ], "xref": [ "UMLS:C4021506" ], "is_a": [ "HP:0009248", "HP:0009394", "HP:0010269" ], "is_obsolete": "", "replace_id": "" }, "HP:0009263": { "name": [ "cone - shaped epiphysis of the proximal phalanx of the 4th finger", "cone - shaped epiphysis of the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.", "synonym": [ [ "cone - shaped end part of the innermost bone of the ring finger", "cone - shaped end part of the innermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024486" ], "is_a": [ "HP:0009248", "HP:0009395", "HP:0010270" ], "is_obsolete": "", "replace_id": "" }, "HP:0009264": { "name": [ "enlarged epiphysis of the proximal phalanx of the 4th finger", "enlarged epiphysis of the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of the innermost bone of the ring finger", "enlarged end part of the innermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024485" ], "is_a": [ "HP:0009248", "HP:0009396", "HP:0010271" ], "is_obsolete": "", "replace_id": "" }, "HP:0009265": { "name": [ "fragmentation of the epiphysis of the proximal phalanx of the 4th finger", "fragmentation of the epiphysis of the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger.", "synonym": [ [ "fragmentation of end part of the innermost bone of the ring finger", "fragmentation of end part of the innermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024484" ], "is_a": [ "HP:0009248", "HP:0009397", "HP:0010272" ], "is_obsolete": "", "replace_id": "" }, "HP:0009266": { "name": [ "irregular epiphysis of the proximal phalanx of the 4th finger", "irregular epiphysis of the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger.", "synonym": [ [ "irregular end part of the innermost bone of the ring finger", "irregular end part of the innermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024483" ], "is_a": [ "HP:0009248", "HP:0009398", "HP:0010273" ], "is_obsolete": "", "replace_id": "" }, "HP:0009267": { "name": [ "ivory epiphysis of the proximal phalanx of the 4th finger", "ivory epiphysis of the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the innermost ring finger bone", "increase bone density of end part of the innermost ring finger bone" ] ], "xref": [ "UMLS:C4024482" ], "is_a": [ "HP:0009248", "HP:0009399", "HP:0010274" ], "is_obsolete": "", "replace_id": "" }, "HP:0009268": { "name": [ "pseudoepiphysis of the proximal phalanx of the 4th finger", "pseudoepiphysis of the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [], "xref": [ "UMLS:C4024481" ], "is_a": [ "HP:0009248", "HP:0009400", "HP:0010275" ], "is_obsolete": "", "replace_id": "" }, "HP:0009269": { "name": [ "small epiphysis of the proximal phalanx of the 4th finger", "small epiphysis of the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.", "synonym": [ [ "small end part of the innermost bone of the ring finger", "small end part of the innermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024480" ], "is_a": [ "HP:0009248", "HP:0009401", "HP:0010276" ], "is_obsolete": "", "replace_id": "" }, "HP:0009270": { "name": [ "stippling of the epiphysis of the proximal phalanx of the 4th finger", "stippling of the epiphysis of the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger.", "synonym": [ [ "speckled calcifications in end part of the innermost bone of ring finger", "speckled calcification in end part of the innermost bone of ring finger" ] ], "xref": [ "UMLS:C4024479" ], "is_a": [ "HP:0009248", "HP:0009402", "HP:0010277" ], "is_obsolete": "", "replace_id": "" }, "HP:0009271": { "name": [ "triangular epiphysis of the proximal phalanx of the 4th finger", "triangular epiphysis of the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.", "synonym": [ [ "delta - shaped epiphysis of the proximal phalanx of the 4th finger", "delta - shaped epiphysis of the proximal phalanx of the 4th finger" ], [ "triangular end part of the innermost bone of ring finger", "triangular end part of the innermost bone of ring finger" ] ], "xref": [ "UMLS:C4021505" ], "is_a": [ "HP:0009248", "HP:0009403", "HP:0010278" ], "is_obsolete": "", "replace_id": "" }, "HP:0009272": { "name": [ "aplasia / hypoplasia of the 4th finger", "aplasia / hypoplasia of the 4th finger" ], "alt_id": [], "def": "A small/hypoplastic or absent/aplastic 4th (ring) finger.", "synonym": [ [ "absent / small ring finger bone", "absent / small ring finger bone" ], [ "absent / underdeveloped ring finger bone", "absent / underdevelop ring finger bone" ] ], "xref": [ "UMLS:C4024478" ], "is_a": [ "HP:0004188", "HP:0006265" ], "is_obsolete": "", "replace_id": "" }, "HP:0009273": { "name": [ "deviation of the 4th finger", "deviation of the 4th finger" ], "alt_id": [], "def": "Displacement of the 4th finger from its normal position.", "synonym": [ [ "deviation of the ring finger", "deviation of the ring finger" ] ], "xref": [ "UMLS:C4024477" ], "is_a": [ "HP:0004097", "HP:0004188" ], "is_obsolete": "", "replace_id": "" }, "HP:0009274": { "name": [ "joint contracture of the 4th finger", "joint contracture of the 4th finger" ], "alt_id": [ "HP:0004189" ], "def": "Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected.", "synonym": [ [ "joint contractures of the fourth finger", "joint contracture of the fourth finger" ] ], "xref": [ "UMLS:C4021504" ], "is_a": [ "HP:0004188", "HP:0012785" ], "is_obsolete": "", "replace_id": "" }, "HP:0009275": { "name": [ "contracture of the distal interphalangeal joint of the 4th finger", "contracture of the distal interphalangeal joint of the 4th finger" ], "alt_id": [], "def": "Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue.", "synonym": [], "xref": [ "UMLS:C4024476" ], "is_a": [ "HP:0009274", "HP:0009697" ], "is_obsolete": "", "replace_id": "" }, "HP:0009276": { "name": [ "contracture of the proximal interphalangeal joint of the 4th finger", "contracture of the proximal interphalangeal joint of the 4th finger" ], "alt_id": [ "HP:0005845" ], "def": "Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.", "synonym": [ [ "4th finger camptodactyly", "4th finger camptodactyly" ], [ "camptodactyly of the 4th finger", "camptodactyly of the 4th finger" ], [ "camptodactyly of the ring finger", "camptodactyly of the ring finger" ] ], "xref": [ "UMLS:C4021503" ], "is_a": [ "HP:0009274", "HP:0100490" ], "is_obsolete": "", "replace_id": "" }, "HP:0009277": { "name": [ "contracture of the metacarpophalangeal joint of the 4th finger", "contracture of the metacarpophalangeal joint of the 4th finger" ], "alt_id": [], "def": "Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue.", "synonym": [], "xref": [ "UMLS:C4024475" ], "is_a": [ "HP:0009274" ], "is_obsolete": "", "replace_id": "" }, "HP:0009278": { "name": [ "ulnar deviation of the 4th finger", "ulnar deviation of the 4th finger" ], "alt_id": [], "def": "Displacement of the 4th finger towards the ulnar side (i.e., towards the ring finger).", "synonym": [ [ "ulnar deviation of the ring finger", "ulnar deviation of the ring finger" ] ], "xref": [ "UMLS:C4024474" ], "is_a": [ "HP:0009273", "HP:0009465" ], "is_obsolete": "", "replace_id": "" }, "HP:0009279": { "name": [ "radial deviation of the 4th finger", "radial deviation of the 4th finger" ], "alt_id": [], "def": "Displacement of the 4th finger towards the radial side (i.e., towards the thumb).", "synonym": [ [ "radial deviation of the ring finger", "radial deviation of the ring finger" ] ], "xref": [ "UMLS:C4024473" ], "is_a": [ "HP:0009273", "HP:0009466" ], "is_obsolete": "", "replace_id": "" }, "HP:0009280": { "name": [ "short 4th finger", "short 4th finger" ], "alt_id": [ "HP:0004190", "HP:0006211" ], "def": "Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger.", "synonym": [ [ "hypoplastic / small 4th finger", "hypoplastic / small 4th finger" ], [ "short ring finger", "short ring finger" ] ], "xref": [ "UMLS:C4021502" ], "is_a": [ "HP:0009272", "HP:0009381" ], "is_obsolete": "", "replace_id": "" }, "HP:0009281": { "name": [ "aplasia of the 4th finger", "aplasia of the 4th finger" ], "alt_id": [], "def": "Absent 4th finger.", "synonym": [ [ "absent ring finger", "absent ring finger" ] ], "xref": [ "UMLS:C4024472" ], "is_a": [ "HP:0009272", "HP:0009380" ], "is_obsolete": "", "replace_id": "" }, "HP:0009282": { "name": [ "abnormality of the distal phalanx of the 4th finger", "abnormality of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the outermost bone of ring finger", "abnormality of the outermost bone of ring finger" ] ], "xref": [ "UMLS:C4024471" ], "is_a": [ "HP:0009172" ], "is_obsolete": "", "replace_id": "" }, "HP:0009283": { "name": [ "abnormality of the middle phalanx of the 4th finger", "abnormality of the middle phalanx of the 4th finger" ], "alt_id": [ "HP:0004204" ], "def": "", "synonym": [ [ "abnormal middle bone of ring finger", "abnormal middle bone of ring finger" ], [ "abnormality of the middle phalanx of the ring finger", "abnormality of the middle phalanx of the ring finger" ] ], "xref": [ "UMLS:C4021501" ], "is_a": [ "HP:0009172" ], "is_obsolete": "", "replace_id": "" }, "HP:0009284": { "name": [ "abnormality of the proximal phalanx of the 4th finger", "abnormality of the proximal phalanx of the 4th finger" ], "alt_id": [ "HP:0004199" ], "def": "", "synonym": [ [ "abnormal innermost bone of ring finger", "abnormal innermost bone of ring finger" ], [ "abnormality of the proximal phalanx of the ring finger", "abnormality of the proximal phalanx of the ring finger" ] ], "xref": [ "UMLS:C4021500" ], "is_a": [ "HP:0009172" ], "is_obsolete": "", "replace_id": "" }, "HP:0009285": { "name": [ "curved phalanges of the 4th finger", "curve phalanx of the 4th finger" ], "alt_id": [], "def": "Curved appearance of the phalanges of the 4th (ring) finger.", "synonym": [ [ "curved ring finger bone", "curve ring finger bone" ] ], "xref": [ "UMLS:C4024470" ], "is_a": [ "HP:0004095", "HP:0009172", "HP:0009770" ], "is_obsolete": "", "replace_id": "" }, "HP:0009286": { "name": [ "curved distal phalanx of the 4th finger", "curve distal phalanx of the 4th finger" ], "alt_id": [], "def": "Curved appearance of the distal phalanx of the 4th (ring) finger.", "synonym": [ [ "curved outermost ring finger bone", "curve outermost ring finger bone" ] ], "xref": [ "UMLS:C4024469" ], "is_a": [ "HP:0009282", "HP:0009285", "HP:0009838" ], "is_obsolete": "", "replace_id": "" }, "HP:0009287": { "name": [ "curved middle phalanx of the 4th finger", "curve middle phalanx of the 4th finger" ], "alt_id": [], "def": "Curved appearance of the middle phalanx of the 4th (ring) finger.", "synonym": [ [ "curved middle ring finger bone", "curve middle ring finger bone" ] ], "xref": [ "UMLS:C4024468" ], "is_a": [ "HP:0009283", "HP:0009285", "HP:0009846" ], "is_obsolete": "", "replace_id": "" }, "HP:0009288": { "name": [ "curved proximal phalanx of the 4th finger", "curve proximal phalanx of the 4th finger" ], "alt_id": [], "def": "", "synonym": [ [ "curved innermost ring finger bone", "curve innermost ring finger bone" ] ], "xref": [ "UMLS:C4024467" ], "is_a": [ "HP:0009284", "HP:0009285", "HP:0009854" ], "is_obsolete": "", "replace_id": "" }, "HP:0009289": { "name": [ "aplasia / hypoplasia of the distal phalanx of the 4th finger", "aplasia / hypoplasia of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small outermost ring finger bone", "absent / small outermost ring finger bone" ], [ "absent / underdeveloped outermost ring finger bone", "absent / underdevelop outermost ring finger bone" ] ], "xref": [ "UMLS:C4024466" ], "is_a": [ "HP:0009282", "HP:0009408" ], "is_obsolete": "", "replace_id": "" }, "HP:0009290": { "name": [ "short distal phalanx of the 4th finger", "short distal phalanx of the 4th finger" ], "alt_id": [], "def": "Hypoplastic/small distal phalanx of the fourth finger.", "synonym": [ [ "hypoplastic / small distal phalanx of the 4th finger", "hypoplastic / small distal phalanx of the 4th finger" ], [ "short distal phalanx of the fourth finger", "short distal phalanx of the fourth finger" ], [ "short outermost bone of ring finger", "short outermost bone of ring finger" ] ], "xref": [ "UMLS:C4021499" ], "is_a": [ "HP:0009280", "HP:0009289", "HP:0009882" ], "is_obsolete": "", "replace_id": "" }, "HP:0009291": { "name": [ "aplasia of the distal phalanx of the 4th finger", "aplasia of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "Absence of the distal phalanx of the ring (4th) finger.", "synonym": [ [ "absent outermost bone of ring finger", "absent outermost bone of ring finger" ] ], "xref": [ "UMLS:C4024465" ], "is_a": [ "HP:0009281", "HP:0009289", "HP:0009881" ], "is_obsolete": "", "replace_id": "" }, "HP:0009292": { "name": [ "broad distal phalanx of the 4th finger", "broad distal phalanx of the 4th finger" ], "alt_id": [], "def": "Increased width of the distal phalanx of the 4th finger.", "synonym": [ [ "broad outermost bone of ring finger", "broad outermost bone of ring finger" ], [ "wide outermost bone of ring finger", "wide outermost bone of ring finger" ] ], "xref": [ "UMLS:C4024464" ], "is_a": [ "HP:0009282", "HP:0009404", "HP:0009836" ], "is_obsolete": "", "replace_id": "" }, "HP:0009293": { "name": [ "broad middle phalanx of the 4th finger", "broad middle phalanx of the 4th finger" ], "alt_id": [], "def": "Increased width of the middle phalanx of the 4th finger.", "synonym": [ [ "broad middle bone of the 4th finger", "broad middle bone of the 4th finger" ] ], "xref": [ "UMLS:C4024463" ], "is_a": [ "HP:0009283", "HP:0009404", "HP:0009844" ], "is_obsolete": "", "replace_id": "" }, "HP:0009294": { "name": [ "absent middle phalanx of 4th finger", "absent middle phalanx of 4th finger" ], "alt_id": [], "def": "Absence of the middle phalanx of the ring (4th) finger.", "synonym": [ [ "absent middle bone of 4th finger", "absent middle bone of 4th finger" ], [ "aplasia of the middle phalanx of the 4th finger", "aplasia of the middle phalanx of the 4th finger" ] ], "xref": [ "UMLS:C4021498" ], "is_a": [ "HP:0009281", "HP:0009299", "HP:0010239" ], "is_obsolete": "", "replace_id": "" }, "HP:0009295": { "name": [ "short middle phalanx of the 4th finger", "short middle phalanx of the 4th finger" ], "alt_id": [ "HP:0004205", "HP:0004206" ], "def": "Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger.", "synonym": [ [ "brachymesophalangy iv ( finger )", "brachymesophalangy iv ( finger )" ], [ "hypoplastic / small middle phalanx of ring finger", "hypoplastic / small middle phalanx of ring finger" ], [ "hypoplastic / small middle phalanx of the 4th finger", "hypoplastic / small middle phalanx of the 4th finger" ], [ "short middle bone of 4th finger", "short middle bone of 4th finger" ], [ "short middle phalanx of ring finger", "short middle phalanx of ring finger" ] ], "xref": [ "UMLS:C4021497" ], "is_a": [ "HP:0005819", "HP:0009280", "HP:0009299" ], "is_obsolete": "", "replace_id": "" }, "HP:0009296": { "name": [ "bullet - shaped middle phalanx of the 4th finger", "bullet - shape middle phalanx of the 4th finger" ], "alt_id": [], "def": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected.", "synonym": [ [ "bullet - shaped middle bone of the 4th finger", "bullet - shape middle bone of the 4th finger" ] ], "xref": [ "UMLS:C4024462" ], "is_a": [ "HP:0009283", "HP:0009405", "HP:0009845" ], "is_obsolete": "", "replace_id": "" }, "HP:0009297": { "name": [ "osteolytic defects of the middle phalanx of the 4th finger", "osteolytic defect of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger.", "synonym": [], "xref": [ "UMLS:C4024461" ], "is_a": [ "HP:0004195", "HP:0009283", "HP:0009847" ], "is_obsolete": "", "replace_id": "" }, "HP:0009298": { "name": [ "aplasia of the proximal phalanx of the 4th finger", "aplasia of the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "Absence of the proximal phalanx of the ring (4th) finger.", "synonym": [ [ "absent innermost ring finger bone", "absent innermost ring finger bone" ] ], "xref": [ "UMLS:C4024460" ], "is_a": [ "HP:0009281", "HP:0009300", "HP:0010242" ], "is_obsolete": "", "replace_id": "" }, "HP:0009299": { "name": [ "aplasia / hypoplasia of the middle phalanx of the 4th finger", "aplasia / hypoplasia of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small middle ring finger bone", "absent / small middle ring finger bone" ], [ "absent / underdeveloped middle ring finger bone", "absent / underdevelop middle ring finger bone" ] ], "xref": [ "UMLS:C4024459" ], "is_a": [ "HP:0009283", "HP:0009408" ], "is_obsolete": "", "replace_id": "" }, "HP:0009300": { "name": [ "aplasia / hypoplasia of the proximal phalanx of the 4th finger", "aplasia / hypoplasia of the proximal phalanx of the 4th finger" ], "alt_id": [ "HP:0004203" ], "def": "", "synonym": [ [ "absent / small innermost ring finger bone", "absent / small innermost ring finger bone" ], [ "absent / underdeveloped innermost ring finger bone", "absent / underdevelop innermost ring finger bone" ] ], "xref": [ "UMLS:C4020658" ], "is_a": [ "HP:0009284", "HP:0009408" ], "is_obsolete": "", "replace_id": "" }, "HP:0009301": { "name": [ "short proximal phalanx of the 4th finger", "short proximal phalanx of the 4th finger" ], "alt_id": [], "def": "Hypoplastic/small proximal phalanx of the fourth finger.", "synonym": [ [ "hypoplastic / small proximal phalanx of the 4th finger", "hypoplastic / small proximal phalanx of the 4th finger" ], [ "short innermost bone of the ring finger", "short innermost bone of the ring finger" ], [ "short proximal phalanx of the fourth finger", "short proximal phalanx of the fourth finger" ] ], "xref": [ "UMLS:C4021496" ], "is_a": [ "HP:0009280", "HP:0009300", "HP:0010241" ], "is_obsolete": "", "replace_id": "" }, "HP:0009302": { "name": [ "bullet - shaped distal phalanx of the 4th finger", "bullet - shaped distal phalanx of the 4th finger" ], "alt_id": [], "def": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected.", "synonym": [ [ "bullet - shaped outermost bone of ring finger", "bullet - shape outermost bone of ring finger" ] ], "xref": [ "UMLS:C4024458" ], "is_a": [ "HP:0009282", "HP:0009405", "HP:0009837" ], "is_obsolete": "", "replace_id": "" }, "HP:0009303": { "name": [ "osteolytic defects of the distal phalanx of the 4th finger", "osteolytic defect of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger.", "synonym": [], "xref": [ "UMLS:C4024457" ], "is_a": [ "HP:0004195", "HP:0009282", "HP:0009839" ], "is_obsolete": "", "replace_id": "" }, "HP:0009304": { "name": [ "patchy sclerosis of the distal phalanx of the 4th finger", "patchy sclerosis of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger.", "synonym": [ [ "uneven increase in bone density in the outermost bone of the ring finger", "uneven increase in bone density in the outermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024456" ], "is_a": [ "HP:0009282", "HP:0009406", "HP:0009840", "HP:0100902" ], "is_obsolete": "", "replace_id": "" }, "HP:0009305": { "name": [ "distal / middle symphalangism of 4th finger", "distal / middle symphalangism of 4th finger" ], "alt_id": [ "HP:0009474", "HP:0009475" ], "def": "Fusion of the terminal/distal and middle phalanges of the 4th finger.", "synonym": [ [ "fused outermost and middle bones of ring finger", "fuse outermost and middle bone of ring finger" ], [ "symphalangism of the distal and middle phalanges of the 4th finger", "symphalangism of the distal and middle phalanx of the 4th finger" ] ], "xref": [ "UMLS:C4021495" ], "is_a": [ "HP:0001204", "HP:0009282", "HP:0009308" ], "is_obsolete": "", "replace_id": "" }, "HP:0009306": { "name": [ "triangular shaped distal phalanx of the 4th finger", "triangular shape distal phalanx of the 4th finger" ], "alt_id": [], "def": "Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.", "synonym": [ [ "triangular shaped outermost bone of the ring finger", "triangular shape outermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024455" ], "is_a": [ "HP:0009282", "HP:0009407", "HP:0009875" ], "is_obsolete": "", "replace_id": "" }, "HP:0009307": { "name": [ "patchy sclerosis of the middle phalanx of the 4th finger", "patchy sclerosis of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger.", "synonym": [ [ "uneven increase in bone density in the middle bone of the ring finger", "uneven increase in bone density in the middle bone of the ring finger" ] ], "xref": [ "UMLS:C4024454" ], "is_a": [ "HP:0009283", "HP:0009406", "HP:0009848", "HP:0100906" ], "is_obsolete": "", "replace_id": "" }, "HP:0009308": { "name": [ "symphalangism of middle phalanx of 4th finger", "symphalangism of middle phalanx of 4th finger" ], "alt_id": [], "def": "Fusion of the middle phalanx of the 4th finger with another bone.", "synonym": [ [ "fused middle bone of ring finger", "fuse middle bone of ring finger" ] ], "xref": [ "UMLS:C4024453" ], "is_a": [ "HP:0004197", "HP:0009283", "HP:0009849" ], "is_obsolete": "", "replace_id": "" }, "HP:0009309": { "name": [ "triangular shaped middle phalanx of the 4th finger", "triangular shape middle phalanx of the 4th finger" ], "alt_id": [], "def": "Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.", "synonym": [ [ "triangular shaped middle bone of the ring finger", "triangular shape middle bone of the ring finger" ] ], "xref": [ "UMLS:C4024452" ], "is_a": [ "HP:0009283", "HP:0009407", "HP:0009850" ], "is_obsolete": "", "replace_id": "" }, "HP:0009310": { "name": [ "broad proximal phalanx of the 4th finger", "broad proximal phalanx of the 4th finger" ], "alt_id": [ "HP:0004201" ], "def": "Increased width of the proximal phalanx of the 4th finger.", "synonym": [ [ "broad innermost ring finger bone", "broad innermost ring finger bone" ] ], "xref": [ "UMLS:C4020660" ], "is_a": [ "HP:0009284", "HP:0009404", "HP:0009852" ], "is_obsolete": "", "replace_id": "" }, "HP:0009311": { "name": [ "bullet - shaped proximal phalanx of the 4th finger", "bullet - shape proximal phalanx of the 4th finger" ], "alt_id": [], "def": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected.", "synonym": [ [ "bullet - shaped innermost ring finger bone", "bullet - shape innermost ring finger bone" ] ], "xref": [ "UMLS:C4024451" ], "is_a": [ "HP:0009284", "HP:0009405", "HP:0009853" ], "is_obsolete": "", "replace_id": "" }, "HP:0009312": { "name": [ "osteolytic defects of the proximal phalanx of the 4th finger", "osteolytic defect of the proximal phalanx of the 4th finger" ], "alt_id": [ "HP:0004202" ], "def": "Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger.", "synonym": [], "xref": [ "UMLS:C4024450" ], "is_a": [ "HP:0004195", "HP:0009284", "HP:0009855" ], "is_obsolete": "", "replace_id": "" }, "HP:0009313": { "name": [ "patchy sclerosis of the proximal phalanx of the 4th finger", "patchy sclerosis of the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger.", "synonym": [ [ "uneven increase in bone density in the innermost bone of the ring finger", "uneven increase in bone density in the innermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024449" ], "is_a": [ "HP:0009284", "HP:0009406", "HP:0009856", "HP:0100910" ], "is_obsolete": "", "replace_id": "" }, "HP:0009314": { "name": [ "symphalangism affecting the proximal phalanx of the 4th finger", "symphalangism affect the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "Fusion of the proximal phalanx of the 4th finger with another bone.", "synonym": [ [ "fused innermost bone of ring finger", "fuse innermost bone of ring finger" ] ], "xref": [ "UMLS:C4024448" ], "is_a": [ "HP:0004197", "HP:0009284", "HP:0009857" ], "is_obsolete": "", "replace_id": "" }, "HP:0009315": { "name": [ "triangular shaped proximal phalanx of the 4th finger", "triangular shape proximal phalanx of the 4th finger" ], "alt_id": [], "def": "Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.", "synonym": [ [ "triangular shaped innermost bone of the 4th finger", "triangular shape innermost bone of the 4th finger" ], [ "triangular shaped innermost bone of the ring finger", "triangular shape innermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024447" ], "is_a": [ "HP:0009284", "HP:0009407", "HP:0009858" ], "is_obsolete": "", "replace_id": "" }, "HP:0009316": { "name": [ "abnormal 3rd finger phalanx morphology", "abnormal 3rd finger phalanx morphology" ], "alt_id": [ "HP:0004155" ], "def": "Abnormality of the phalanges of the 3rd (middle) finger.", "synonym": [ [ "abnormality of 3rd finger phalanges", "abnormality of 3rd finger phalanx" ], [ "abnormality of middle finger phalanges", "abnormality of middle finger phalanx" ], [ "abnormality of the middle finger bones", "abnormality of the middle finger bone" ], [ "abnormality of the phalanges of the 3rd finger", "abnormality of the phalanx of the 3rd finger" ] ], "xref": [ "UMLS:C4021494" ], "is_a": [ "HP:0004150", "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0009317": { "name": [ "deviation of the 3rd finger", "deviation of the 3rd finger" ], "alt_id": [ "HP:0004152" ], "def": "Displacement of the 3rd finger from its normal position.", "synonym": [ [ "deviated middle finger", "deviate middle finger" ] ], "xref": [ "UMLS:C4021493" ], "is_a": [ "HP:0004097", "HP:0004150" ], "is_obsolete": "", "replace_id": "" }, "HP:0009318": { "name": [ "aplasia / hypoplasia of the 3rd finger", "aplasia / hypoplasia of the 3rd finger" ], "alt_id": [], "def": "A small/hypoplastic or absent/aplastic 3rd (middle) finger.", "synonym": [ [ "absent / small middle finger", "absent / small middle finger" ], [ "absent / underdeveloped middle finger", "absent / underdevelop middle finger" ] ], "xref": [ "UMLS:C4024446" ], "is_a": [ "HP:0004150", "HP:0006265" ], "is_obsolete": "", "replace_id": "" }, "HP:0009319": { "name": [ "joint contracture of the 3rd finger", "joint contracture of the 3rd finger" ], "alt_id": [ "HP:0004151" ], "def": "Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected.", "synonym": [ [ "camptodactyly of middle finger", "camptodactyly of middle finger" ] ], "xref": [ "UMLS:C4021492" ], "is_a": [ "HP:0004150", "HP:0012785" ], "is_obsolete": "", "replace_id": "" }, "HP:0009320": { "name": [ "abnormality of the epiphyses of the 3rd finger", "abnormality of the epiphysis of the 3rd finger" ], "alt_id": [], "def": "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger.", "synonym": [ [ "abnormality of end part of the middle bone of the middle finger", "abnormality of end part of the middle bone of the middle finger" ] ], "xref": [ "UMLS:C4024445" ], "is_a": [ "HP:0004150", "HP:0005920" ], "is_obsolete": "", "replace_id": "" }, "HP:0009321": { "name": [ "absent epiphysis of the middle phalanx of the 3rd finger", "absent epiphysis of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger.", "synonym": [ [ "absent end part of the middle bone of the middle finger", "absent end part of the middle bone of the middle finger" ] ], "xref": [ "UMLS:C4024444" ], "is_a": [ "HP:0009334", "HP:0009410", "HP:0010257" ], "is_obsolete": "", "replace_id": "" }, "HP:0009322": { "name": [ "bracket epiphysis of the middle phalanx of the 3rd finger", "bracket epiphysis of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of the middle bone of the middle finger", "bracket shape end part of the middle bone of the middle finger" ] ], "xref": [ "UMLS:C4024443" ], "is_a": [ "HP:0009334", "HP:0009411", "HP:0010258" ], "is_obsolete": "", "replace_id": "" }, "HP:0009323": { "name": [ "cone - shaped epiphysis of the middle phalanx of the 3rd finger", "cone - shaped epiphysis of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.", "synonym": [ [ "cone - shaped end part of the middle bone of the middle finger", "cone - shaped end part of the middle bone of the middle finger" ] ], "xref": [ "UMLS:C4024442" ], "is_a": [ "HP:0009334", "HP:0009412", "HP:0010259" ], "is_obsolete": "", "replace_id": "" }, "HP:0009324": { "name": [ "enlarged epiphysis of the middle phalanx of the 3rd finger", "enlarged epiphysis of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of the middle bone of the middle finger", "enlarged end part of the middle bone of the middle finger" ] ], "xref": [ "UMLS:C4024441" ], "is_a": [ "HP:0009334", "HP:0009413", "HP:0010260" ], "is_obsolete": "", "replace_id": "" }, "HP:0009325": { "name": [ "fragmentation of the epiphysis of the middle phalanx of the 3rd finger", "fragmentation of the epiphysis of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger.", "synonym": [ [ "fragmentation of end part of the middle bone of the middle finger", "fragmentation of end part of the middle bone of the middle finger" ] ], "xref": [ "UMLS:C4024440" ], "is_a": [ "HP:0009334", "HP:0009414", "HP:0010261" ], "is_obsolete": "", "replace_id": "" }, "HP:0009326": { "name": [ "irregular epiphysis of the middle phalanx of the 3rd finger", "irregular epiphysis of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger.", "synonym": [ [ "irregular end part of the middle bone of the middle finger", "irregular end part of the middle bone of the middle finger" ] ], "xref": [ "UMLS:C4024439" ], "is_a": [ "HP:0009334", "HP:0009415", "HP:0010262" ], "is_obsolete": "", "replace_id": "" }, "HP:0009327": { "name": [ "ivory epiphysis of the middle phalanx of the 3rd finger", "ivory epiphysis of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the middle bone of the middle finger", "increase bone density of end part of the middle bone of the middle finger" ] ], "xref": [ "UMLS:C4024438" ], "is_a": [ "HP:0009334", "HP:0009416", "HP:0010263" ], "is_obsolete": "", "replace_id": "" }, "HP:0009328": { "name": [ "pseudoepiphysis of the middle phalanx of the 3rd finger", "pseudoepiphysis of the middle phalanx of the 3rd finger" ], "alt_id": [ "HP:0004176" ], "def": "A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [ [ "pseudoepiphyses of middle phalanx of middle - finger", "pseudoepiphyses of middle phalanx of middle - finger" ] ], "xref": [ "UMLS:C4021491" ], "is_a": [ "HP:0009334", "HP:0009417", "HP:0010264" ], "is_obsolete": "", "replace_id": "" }, "HP:0009329": { "name": [ "small epiphysis of the middle phalanx of the 3rd finger", "small epiphysis of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.", "synonym": [ [ "small end part of the middle bone of the middle finger", "small end part of the middle bone of the middle finger" ] ], "xref": [ "UMLS:C4024437" ], "is_a": [ "HP:0009334", "HP:0009418", "HP:0010265" ], "is_obsolete": "", "replace_id": "" }, "HP:0009330": { "name": [ "stippling of the epiphysis of the middle phalanx of the 3rd finger", "stippling of the epiphysis of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger.", "synonym": [ [ "speckled calcifications in end part of the middle bone of the middle finger", "speckled calcification in end part of the middle bone of the middle finger" ] ], "xref": [ "UMLS:C4024436" ], "is_a": [ "HP:0009334", "HP:0009419", "HP:0010266" ], "is_obsolete": "", "replace_id": "" }, "HP:0009331": { "name": [ "triangular epiphysis of the middle phalanx of the 3rd finger", "triangular epiphysis of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.", "synonym": [ [ "delta - shaped epiphysis of the middle phalanx of the 3rd finger", "delta - shaped epiphysis of the middle phalanx of the 3rd finger" ], [ "triangular end part of the middle bone of the middle finger", "triangular end part of the middle bone of the middle finger" ] ], "xref": [ "UMLS:C4021490" ], "is_a": [ "HP:0009334", "HP:0009420", "HP:0010267" ], "is_obsolete": "", "replace_id": "" }, "HP:0009332": { "name": [ "abnormality of the epiphysis of the distal phalanx of the 3rd finger", "abnormality of the epiphysis of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the end part of the outermost bone of the middle finger", "abnormality of the end part of the outermost bone of the middle finger" ] ], "xref": [ "UMLS:C4024435" ], "is_a": [ "HP:0009320", "HP:0009357", "HP:0010243" ], "is_obsolete": "", "replace_id": "" }, "HP:0009333": { "name": [ "abnormality of the epiphysis of the proximal phalanx of the 3rd finger", "abnormality of the epiphysis of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the end part of the innermost bone of the middle finger", "abnormality of the end part of the innermost bone of the middle finger" ] ], "xref": [ "UMLS:C4024434" ], "is_a": [ "HP:0009320", "HP:0009358", "HP:0010245" ], "is_obsolete": "", "replace_id": "" }, "HP:0009334": { "name": [ "abnormality of the epiphysis of the middle phalanx of the 3rd finger", "abnormality of the epiphysis of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the middle part of the middle bone of the middle finger", "abnormality of the middle part of the middle bone of the middle finger" ] ], "xref": [ "UMLS:C4024433" ], "is_a": [ "HP:0004172", "HP:0009320", "HP:0010244" ], "is_obsolete": "", "replace_id": "" }, "HP:0009335": { "name": [ "absent epiphysis of the distal phalanx of the 3rd finger", "absent epiphysis of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger.", "synonym": [ [ "absent end part of the outermost bone of the middle finger", "absent end part of the outermost bone of the middle finger" ] ], "xref": [ "UMLS:C4024432" ], "is_a": [ "HP:0009332", "HP:0009410", "HP:0010246" ], "is_obsolete": "", "replace_id": "" }, "HP:0009336": { "name": [ "bracket epiphysis of the distal phalanx of the 3rd finger", "bracket epiphysis of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of the outermost bone of the middle finger", "bracket shape end part of the outermost bone of the middle finger" ] ], "xref": [ "UMLS:C4024431" ], "is_a": [ "HP:0009332", "HP:0009411", "HP:0010247" ], "is_obsolete": "", "replace_id": "" }, "HP:0009337": { "name": [ "cone - shaped epiphysis of the distal phalanx of the 3rd finger", "cone - shaped epiphysis of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.", "synonym": [ [ "cone - shaped end part of the outermost bone of the middle finger", "cone - shaped end part of the outermost bone of the middle finger" ] ], "xref": [ "UMLS:C4024430" ], "is_a": [ "HP:0009332", "HP:0009412", "HP:0010248" ], "is_obsolete": "", "replace_id": "" }, "HP:0009338": { "name": [ "enlarged epiphysis of the distal phalanx of the 3rd finger", "enlarged epiphysis of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of the outermost bone of the 3rd finger", "enlarged end part of the outermost bone of the 3rd finger" ] ], "xref": [ "UMLS:C4024429" ], "is_a": [ "HP:0009332", "HP:0009413", "HP:0010249" ], "is_obsolete": "", "replace_id": "" }, "HP:0009339": { "name": [ "fragmentation of the epiphysis of the distal phalanx of the 3rd finger", "fragmentation of the epiphysis of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger.", "synonym": [ [ "fragmentation of end part of the outermost bone of the middle finger", "fragmentation of end part of the outermost bone of the middle finger" ] ], "xref": [ "UMLS:C4024428" ], "is_a": [ "HP:0009332", "HP:0009414", "HP:0010250" ], "is_obsolete": "", "replace_id": "" }, "HP:0009340": { "name": [ "irregular epiphysis of the distal phalanx of the 3rd finger", "irregular epiphysis of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger.", "synonym": [ [ "irregular end part of the outermost long bone of the middle finger", "irregular end part of the outermost long bone of the middle finger" ] ], "xref": [ "UMLS:C4024427" ], "is_a": [ "HP:0009332", "HP:0009415", "HP:0010251" ], "is_obsolete": "", "replace_id": "" }, "HP:0009341": { "name": [ "ivory epiphysis of the distal phalanx of the 3rd finger", "ivory epiphysis of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the outermost middle finger bone", "increase bone density of end part of the outermost middle finger bone" ] ], "xref": [ "UMLS:C4024426" ], "is_a": [ "HP:0009332", "HP:0009416", "HP:0010252" ], "is_obsolete": "", "replace_id": "" }, "HP:0009342": { "name": [ "pseudoepiphysis of the distal phalanx of the 3rd finger", "pseudoepiphysis of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [ [ "pseudoepiphysis of the outermost bone of the middle finger", "pseudoepiphysis of the outermost bone of the middle finger" ] ], "xref": [ "UMLS:C4024425" ], "is_a": [ "HP:0009332", "HP:0009417", "HP:0010253" ], "is_obsolete": "", "replace_id": "" }, "HP:0009343": { "name": [ "small epiphysis of the distal phalanx of the 3rd finger", "small epiphysis of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.", "synonym": [ [ "small end part of the outermost long bone of the middle finger", "small end part of the outermost long bone of the middle finger" ] ], "xref": [ "UMLS:C4024424" ], "is_a": [ "HP:0009332", "HP:0009418", "HP:0010254" ], "is_obsolete": "", "replace_id": "" }, "HP:0009344": { "name": [ "stippling of the epiphysis of the distal phalanx of the 3rd finger", "stippling of the epiphysis of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger.", "synonym": [ [ "speckled calcifications in end part of the outermost long bone of the middle finger", "speckled calcification in end part of the outermost long bone of the middle finger" ] ], "xref": [ "UMLS:C4024423" ], "is_a": [ "HP:0009332", "HP:0009419", "HP:0010255" ], "is_obsolete": "", "replace_id": "" }, "HP:0009345": { "name": [ "triangular epiphysis of the distal phalanx of the 3rd finger", "triangular epiphysis of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.", "synonym": [ [ "delta - shaped epiphysis of the distal phalanx of the 3rd finger", "delta - shaped epiphysis of the distal phalanx of the 3rd finger" ], [ "triangular end part of the outermost long bone of the middle finger", "triangular end part of the outermost long bone of the middle finger" ] ], "xref": [ "UMLS:C4021489" ], "is_a": [ "HP:0009332", "HP:0009420", "HP:0010256" ], "is_obsolete": "", "replace_id": "" }, "HP:0009346": { "name": [ "absent epiphysis of the proximal phalanx of the 3rd finger", "absent epiphysis of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger.", "synonym": [ [ "absent end part of innermost long bone of the middle finger", "absent end part of innermost long bone of the middle finger" ] ], "xref": [ "UMLS:C4024422" ], "is_a": [ "HP:0009333", "HP:0009410", "HP:0010268" ], "is_obsolete": "", "replace_id": "" }, "HP:0009347": { "name": [ "bracket epiphysis of the proximal phalanx of the 3rd finger", "bracket epiphysis of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of innermost long bone of the middle finger", "bracket shape end part of innermost long bone of the middle finger" ] ], "xref": [ "UMLS:C4024421" ], "is_a": [ "HP:0009333", "HP:0009411", "HP:0010269" ], "is_obsolete": "", "replace_id": "" }, "HP:0009348": { "name": [ "cone - shaped epiphysis of the proximal phalanx of the 3rd finger", "cone - shaped epiphysis of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.", "synonym": [ [ "cone - shaped end part of the innermost bone of the middle finger", "cone - shaped end part of the innermost bone of the middle finger" ] ], "xref": [ "UMLS:C4024420" ], "is_a": [ "HP:0009333", "HP:0009412", "HP:0010270" ], "is_obsolete": "", "replace_id": "" }, "HP:0009349": { "name": [ "enlarged epiphysis of the proximal phalanx of the 3rd finger", "enlarged epiphysis of the proximal phalanx of the 3rd finger" ], "alt_id": [ "HP:0004171" ], "def": "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of innermost long bone of the middle finger", "enlarged end part of innermost long bone of the middle finger" ], [ "large epiphysis of proximal middle - finger phalanx", "large epiphysis of proximal middle - finger phalanx" ] ], "xref": [ "UMLS:C4021488" ], "is_a": [ "HP:0009333", "HP:0009413", "HP:0010271" ], "is_obsolete": "", "replace_id": "" }, "HP:0009350": { "name": [ "fragmentation of the epiphysis of the proximal phalanx of the 3rd finger", "fragmentation of the epiphysis of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger.", "synonym": [ [ "fragmentation of end part of innermost long bone of the middle finger", "fragmentation of end part of innermost long bone of the middle finger" ] ], "xref": [ "UMLS:C4024419" ], "is_a": [ "HP:0009333", "HP:0009414", "HP:0010272" ], "is_obsolete": "", "replace_id": "" }, "HP:0009351": { "name": [ "irregular epiphysis of the proximal phalanx of the 3rd finger", "irregular epiphysis of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger.", "synonym": [ [ "irregular end part of innermost long bone of the middle finger", "irregular end part of innermost long bone of the middle finger" ] ], "xref": [ "UMLS:C4024418" ], "is_a": [ "HP:0009333", "HP:0009415", "HP:0010273" ], "is_obsolete": "", "replace_id": "" }, "HP:0009352": { "name": [ "ivory epiphysis of the proximal phalanx of the 3rd finger", "ivory epiphysis of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the innermost middle finger bone", "increase bone density of end part of the innermost middle finger bone" ] ], "xref": [ "UMLS:C4024417" ], "is_a": [ "HP:0009333", "HP:0009416", "HP:0010274" ], "is_obsolete": "", "replace_id": "" }, "HP:0009353": { "name": [ "pseudoepiphysis of the proximal phalanx of the 3rd finger", "pseudoepiphysis of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [], "xref": [ "UMLS:C4024416" ], "is_a": [ "HP:0009333", "HP:0009417", "HP:0010275" ], "is_obsolete": "", "replace_id": "" }, "HP:0009354": { "name": [ "small epiphysis of the proximal phalanx of the 3rd finger", "small epiphysis of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.", "synonym": [ [ "small end part of innermost long bone of the middle finger", "small end part of innermost long bone of the middle finger" ] ], "xref": [ "UMLS:C4024415" ], "is_a": [ "HP:0009333", "HP:0009418", "HP:0010276" ], "is_obsolete": "", "replace_id": "" }, "HP:0009355": { "name": [ "stippling of the epiphysis of the proximal phalanx of the 3rd finger", "stippling of the epiphysis of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger.", "synonym": [ [ "speckled calcifications in end part of innermost long bone of the middle finger", "speckled calcification in end part of innermost long bone of the middle finger" ] ], "xref": [ "UMLS:C4024414" ], "is_a": [ "HP:0009333", "HP:0009419", "HP:0010277" ], "is_obsolete": "", "replace_id": "" }, "HP:0009356": { "name": [ "triangular epiphysis of the proximal phalanx of the 3rd finger", "triangular epiphysis of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.", "synonym": [ [ "delta - shaped epiphysis of the proximal phalanx of the 3rd finger", "delta - shaped epiphysis of the proximal phalanx of the 3rd finger" ], [ "triangular end part of innermost long bone of the middle finger", "triangular end part of innermost long bone of the middle finger" ] ], "xref": [ "UMLS:C4021487" ], "is_a": [ "HP:0009333", "HP:0009420", "HP:0010278" ], "is_obsolete": "", "replace_id": "" }, "HP:0009357": { "name": [ "abnormality of the distal phalanx of the 3rd finger", "abnormality of the distal phalanx of the 3rd finger" ], "alt_id": [ "HP:0004179" ], "def": "", "synonym": [ [ "abnormality of terminal phalanx of middle - finger", "abnormality of terminal phalanx of middle - finger" ], [ "abnormality of the outermost bone of the 3rd finger", "abnormality of the outermost bone of the 3rd finger" ] ], "xref": [ "UMLS:C4021486" ], "is_a": [ "HP:0009316" ], "is_obsolete": "", "replace_id": "" }, "HP:0009358": { "name": [ "abnormality of the proximal phalanx of the 3rd finger", "abnormality of the proximal phalanx of the 3rd finger" ], "alt_id": [ "HP:0004167" ], "def": "", "synonym": [ [ "abnormal innermost bone of middle finger", "abnormal innermost bone of middle finger" ], [ "abnormality of proximal middle - finger phalanx", "abnormality of proximal middle - finger phalanx" ] ], "xref": [ "UMLS:C4021485" ], "is_a": [ "HP:0009316" ], "is_obsolete": "", "replace_id": "" }, "HP:0009370": { "name": [ "type a brachydactyly", "type a brachydactyly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024413" ], "is_a": [ "HP:0001156" ], "is_obsolete": "", "replace_id": "" }, "HP:0009371": { "name": [ "type a1 brachydactyly", "type a1 brachydactyly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C537088", "SNOMEDCT_US:715720006", "UMLS:C1862151" ], "is_a": [ "HP:0009370" ], "is_obsolete": "", "replace_id": "" }, "HP:0009372": { "name": [ "type a2 brachydactyly", "type a2 brachydactyly" ], "alt_id": [], "def": "", "synonym": [ [ "short index fingers and second toes", "short index finger and second toe" ] ], "xref": [ "MSH:C537089", "UMLS:C1832702" ], "is_a": [ "HP:0009370" ], "is_obsolete": "", "replace_id": "" }, "HP:0009373": { "name": [ "type c brachydactyly", "type c brachydactyly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C537093", "UMLS:C1862103" ], "is_a": [ "HP:0001156" ], "is_obsolete": "", "replace_id": "" }, "HP:0009374": { "name": [ "broad phalanges of the 5th finger", "broad phalanx of the 5th finger" ], "alt_id": [], "def": "Increased width of the phalanges of the 5th finger.", "synonym": [ [ "broad little finger bones", "broad little finger bone" ], [ "broad pinkie finger bones", "broad pinkie finger bone" ], [ "broad pinky finger bones", "broad pinky finger bone" ] ], "xref": [ "UMLS:C4024412" ], "is_a": [ "HP:0004213", "HP:0009768" ], "is_obsolete": "", "replace_id": "" }, "HP:0009375": { "name": [ "bullet - shaped phalanges of the 5th finger", "bullet - shaped phalanx of the 5th finger" ], "alt_id": [], "def": "A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped little finger bones", "bullet - shape little finger bone" ], [ "bullet - shaped pinkie finger bones", "bullet - shape pinkie finger bone" ], [ "bullet - shaped pinky finger bones", "bullet - shape pinky finger bone" ] ], "xref": [ "UMLS:C4024411" ], "is_a": [ "HP:0004213", "HP:0009769" ], "is_obsolete": "", "replace_id": "" }, "HP:0009376": { "name": [ "aplasia / hypoplasia of the phalanges of the 5th finger", "aplasia / hypoplasia of the phalanx of the 5th finger" ], "alt_id": [], "def": "Aplasia/Hypoplasia of the phalanges of the 5th finger.", "synonym": [ [ "absent / small little finger bones", "absent / small little finger bone" ], [ "absent / small pinkie finger bones", "absent / small pinkie finger bone" ], [ "absent / small pinky finger bones", "absent / small pinky finger bone" ], [ "absent / underdeveloped pinky finger bones", "absent / underdevelop pinky finger bone" ] ], "xref": [ "UMLS:C4024410" ], "is_a": [ "HP:0004213", "HP:0009767" ], "is_obsolete": "", "replace_id": "" }, "HP:0009377": { "name": [ "patchy sclerosis of 5th finger phalanx", "patchy sclerosis of 5th finger phalanx" ], "alt_id": [], "def": "Uneven increase in bone density of one or more of the phalanges of the 5th finger.", "synonym": [ [ "patchy sclerosis of the phalanges of the 5th finger", "patchy sclerosis of the phalanx of the 5th finger" ], [ "uneven increase in bone density in little finger bone", "uneven increase in bone density in little finger bone" ], [ "uneven increase in bone density in pinkie finger bone", "uneven increase in bone density in pinkie finger bone" ], [ "uneven increase in bone density in pinky finger bone", "uneven increase in bone density in pinky finger bone" ] ], "xref": [ "UMLS:C4021484" ], "is_a": [ "HP:0009772", "HP:0100921" ], "is_obsolete": "", "replace_id": "" }, "HP:0009378": { "name": [ "triangular shaped phalanges of the 5th finger", "triangular shape phalanx of the 5th finger" ], "alt_id": [], "def": "Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.", "synonym": [ [ "triangular shaped little finger bones", "triangular shape little finger bone" ], [ "triangular shaped pinkie finger bones", "triangular shape pinkie finger bone" ], [ "triangular shaped pinky finger bones", "triangular shape pinky finger bone" ] ], "xref": [ "UMLS:C4024409" ], "is_a": [ "HP:0004213", "HP:0009774" ], "is_obsolete": "", "replace_id": "" }, "HP:0009379": { "name": [ "rhomboid or triangular shaped 5th finger distal phalanx", "rhomboid or triangular shape 5th finger distal phalanx" ], "alt_id": [], "def": "Rhomboid or triangular shaped 5th (little) finger distal phalanx.", "synonym": [ [ "rhomboid or triangular shaped little finger bone", "rhomboid or triangular shape little finger bone" ], [ "rhomboid or triangular shaped pinkie finger bone", "rhomboid or triangular shape pinkie finger bone" ], [ "rhomboid or triangular shaped pinky finger bone", "rhomboid or triangular shape pinky finger bone" ] ], "xref": [ "UMLS:C4024408" ], "is_a": [ "HP:0009245" ], "is_obsolete": "", "replace_id": "" }, "HP:0009380": { "name": [ "aplasia of the fingers", "aplasia of the finger" ], "alt_id": [ "HP:0004093" ], "def": "Aplasia of one or more fingers.", "synonym": [ [ "absent fingers", "absent finger" ] ], "xref": [ "SNOMEDCT_US:71358006", "UMLS:C0728895" ], "is_a": [ "HP:0006265" ], "is_obsolete": "", "replace_id": "" }, "HP:0009381": { "name": [ "short finger", "short finger" ], "alt_id": [ "HP:0004098", "HP:0006015" ], "def": "Abnormally short finger associated with developmental hypoplasia.", "synonym": [ [ "hypoplastic digits", "hypoplastic digit" ], [ "hypoplastic fingers", "hypoplastic finger" ], [ "hypoplastic / small fingers", "hypoplastic / small finger" ], [ "short finger", "short finger" ], [ "stubby finger", "stubby finger" ], [ "stubby fingers", "stubby finger" ] ], "xref": [ "SNOMEDCT_US:249765007", "UMLS:C0239594", "UMLS:C1844548" ], "is_a": [ "HP:0005922", "HP:0006265", "HP:0011927" ], "is_obsolete": "", "replace_id": "" }, "HP:0009382": { "name": [ "absent epiphyses of the 5th finger", "absent epiphysis of the 5th finger" ], "alt_id": [], "def": "Absence of one or more epiphyses of the 5th finger.", "synonym": [ [ "absent end part of little finger bone", "absent end part of little finger bone" ], [ "absent end part of pinkie finger bone", "absent end part of pinkie finger bone" ], [ "absent end part of pinky finger bone", "absent end part of pinky finger bone" ] ], "xref": [ "UMLS:C4024407" ], "is_a": [ "HP:0009152", "HP:0010228" ], "is_obsolete": "", "replace_id": "" }, "HP:0009383": { "name": [ "bracket epiphyses of the 5th finger", "bracket epiphysis of the 5th finger" ], "alt_id": [], "def": "An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of little finger bone", "bracket shape end part of little finger bone" ], [ "bracket shaped end part of pinkie finger bone", "bracket shape end part of pinkie finger bone" ], [ "bracket shaped end part of pinky finger bone", "bracket shape end part of pinky finger bone" ] ], "xref": [ "UMLS:C4024406" ], "is_a": [ "HP:0009152", "HP:0010229" ], "is_obsolete": "", "replace_id": "" }, "HP:0009384": { "name": [ "cone - shaped epiphyses of the 5th finger", "cone - shaped epiphysis of the 5th finger" ], "alt_id": [], "def": "A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.", "synonym": [ [ "cone - shaped end part of the little finger bones", "cone - shaped end part of the little finger bone" ], [ "cone - shaped end part of the pinkie finger bones", "cone - shaped end part of the pinkie finger bone" ], [ "cone - shaped end part of the pinky finger bones", "cone - shaped end part of the pinky finger bone" ] ], "xref": [ "UMLS:C4024405" ], "is_a": [ "HP:0009152", "HP:0010230" ], "is_obsolete": "", "replace_id": "" }, "HP:0009385": { "name": [ "enlarged epiphyses of the 5th finger", "enlarged epiphysis of the 5th finger" ], "alt_id": [], "def": "Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of the little finger bones", "enlarged end part of the little finger bone" ], [ "enlarged end part of the pinkie finger bones", "enlarged end part of the pinkie finger bone" ], [ "enlarged end part of the pinky finger bones", "enlarged end part of the pinky finger bone" ] ], "xref": [ "UMLS:C4024404" ], "is_a": [ "HP:0009152", "HP:0010231" ], "is_obsolete": "", "replace_id": "" }, "HP:0009386": { "name": [ "fragmentation of the epiphyses of the 5th finger", "fragmentation of the epiphysis of the 5th finger" ], "alt_id": [], "def": "Fragmented appearance of the epiphyses of the 5th finger.", "synonym": [ [ "fragmentation of the end part of the little finger bones", "fragmentation of the end part of the little finger bone" ], [ "fragmentation of the end part of the pinkie finger bones", "fragmentation of the end part of the pinkie finger bone" ], [ "fragmentation of the end part of the pinky finger bones", "fragmentation of the end part of the pinky finger bone" ] ], "xref": [ "UMLS:C4024403" ], "is_a": [ "HP:0009152", "HP:0010232" ], "is_obsolete": "", "replace_id": "" }, "HP:0009387": { "name": [ "irregular epiphyses of the 5th finger", "irregular epiphysis of the 5th finger" ], "alt_id": [], "def": "Irregular radiographic opacity of the epiphyses of the 5th finger.", "synonym": [ [ "irregular end part of the little finger bones", "irregular end part of the little finger bone" ], [ "irregular end part of the pinkie finger bones", "irregular end part of the pinkie finger bone" ], [ "irregular end part of the pinky finger bones", "irregular end part of the pinky finger bone" ] ], "xref": [ "UMLS:C4024402" ], "is_a": [ "HP:0009152", "HP:0010233" ], "is_obsolete": "", "replace_id": "" }, "HP:0009388": { "name": [ "ivory epiphyses of the 5th finger", "ivory epiphysis of the 5th finger" ], "alt_id": [], "def": "Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the little finger", "increase bone density of end part of the little finger" ], [ "increased bone density of end part of the pinkie finger", "increase bone density of end part of the pinkie finger" ], [ "increased bone density of end part of the pinky finger", "increase bone density of end part of the pinky finger" ] ], "xref": [ "UMLS:C4024401" ], "is_a": [ "HP:0009152", "HP:0010234", "HP:0100921" ], "is_obsolete": "", "replace_id": "" }, "HP:0009389": { "name": [ "pseudoepiphyses of the 5th finger", "pseudoepiphyses of the 5th finger" ], "alt_id": [], "def": "A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [], "xref": [ "UMLS:C4024400" ], "is_a": [ "HP:0009152", "HP:0010235" ], "is_obsolete": "", "replace_id": "" }, "HP:0009390": { "name": [ "small epiphyses of the 5th finger", "small epiphysis of the 5th finger" ], "alt_id": [], "def": "Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms.", "synonym": [ [ "small end part of little finger bone", "small end part of little finger bone" ], [ "small end part of pinkie finger bone", "small end part of pinkie finger bone" ], [ "small end part of pinky finger bone", "small end part of pinky finger bone" ] ], "xref": [ "UMLS:C4024399" ], "is_a": [ "HP:0009152", "HP:0010236" ], "is_obsolete": "", "replace_id": "" }, "HP:0009391": { "name": [ "stippling of the epiphyses of the 5th finger", "stippling of the epiphysis of the 5th finger" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger.", "synonym": [ [ "speckled calcifications in end part of little finger bone", "speckled calcification in end part of little finger bone" ], [ "speckled calcifications in end part of pinkie finger bone", "speckled calcification in end part of pinkie finger bone" ], [ "speckled calcifications in end part of pinky finger bone", "speckled calcification in end part of pinky finger bone" ] ], "xref": [ "UMLS:C4024398" ], "is_a": [ "HP:0009152", "HP:0010237" ], "is_obsolete": "", "replace_id": "" }, "HP:0009392": { "name": [ "triangular epiphyses of the 5th finger", "triangular epiphysis of the 5th finger" ], "alt_id": [], "def": "A triangular appearance of the epiphyses of the 5th finger of the hand.", "synonym": [ [ "delta - shaped epiphyses of the 5th finger", "delta - shaped epiphysis of the 5th finger" ], [ "triangular end part of the little finger", "triangular end part of the little finger" ], [ "triangular end part of the pinkie finger", "triangular end part of the pinkie finger" ], [ "triangular end part of the pinky finger", "triangular end part of the pinky finger" ] ], "xref": [ "UMLS:C4021483" ], "is_a": [ "HP:0009152", "HP:0010238" ], "is_obsolete": "", "replace_id": "" }, "HP:0009393": { "name": [ "absent epiphyses of the 4th finger", "absent epiphysis of the 4th finger" ], "alt_id": [], "def": "Absence of one or more epiphyses of the 4th finger.", "synonym": [ [ "absent end part of the ring finger bone", "absent end part of the ring finger bone" ] ], "xref": [ "UMLS:C4024397" ], "is_a": [ "HP:0009174", "HP:0010228" ], "is_obsolete": "", "replace_id": "" }, "HP:0009394": { "name": [ "bracket epiphyses of the 4th finger", "bracket epiphysis of the 4th finger" ], "alt_id": [ "HP:0004192" ], "def": "An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of ring finger bones", "bracket shape end part of ring finger bone" ] ], "xref": [ "UMLS:C4024396" ], "is_a": [ "HP:0009174", "HP:0010229" ], "is_obsolete": "", "replace_id": "" }, "HP:0009395": { "name": [ "cone - shaped epiphyses of the 4th finger", "cone - shaped epiphysis of the 4th finger" ], "alt_id": [], "def": "A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.", "synonym": [ [ "cone - shaped end part of the ring finger bones", "cone - shaped end part of the ring finger bone" ] ], "xref": [ "UMLS:C4024395" ], "is_a": [ "HP:0009174", "HP:0010230" ], "is_obsolete": "", "replace_id": "" }, "HP:0009396": { "name": [ "enlarged epiphyses of the 4th finger", "enlarged epiphysis of the 4th finger" ], "alt_id": [], "def": "Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of the ring finger bones", "enlarged end part of the ring finger bone" ] ], "xref": [ "UMLS:C4024394" ], "is_a": [ "HP:0009174", "HP:0010231" ], "is_obsolete": "", "replace_id": "" }, "HP:0009397": { "name": [ "fragmentation of the epiphyses of the 4th finger", "fragmentation of the epiphysis of the 4th finger" ], "alt_id": [], "def": "Fragmented appearance of the epiphyses of the 4th finger.", "synonym": [ [ "fragmentation of the end part of the ring finger bones", "fragmentation of the end part of the ring finger bone" ] ], "xref": [ "UMLS:C4024393" ], "is_a": [ "HP:0009174", "HP:0010232" ], "is_obsolete": "", "replace_id": "" }, "HP:0009398": { "name": [ "irregular epiphyses of the 4th finger", "irregular epiphysis of the 4th finger" ], "alt_id": [], "def": "Irregular radiographic opacity of the epiphyses of the 4th finger.", "synonym": [ [ "irregular end part of the ring finger bones", "irregular end part of the ring finger bone" ] ], "xref": [ "UMLS:C4024392" ], "is_a": [ "HP:0009174", "HP:0010233" ], "is_obsolete": "", "replace_id": "" }, "HP:0009399": { "name": [ "ivory epiphyses of the 4th finger", "ivory epiphysis of the 4th finger" ], "alt_id": [], "def": "Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the ring finger bone", "increase bone density of end part of the ring finger bone" ] ], "xref": [ "UMLS:C4024391" ], "is_a": [ "HP:0009174", "HP:0010234", "HP:0100920" ], "is_obsolete": "", "replace_id": "" }, "HP:0009400": { "name": [ "pseudoepiphyses of the 4th finger", "pseudoepiphyses of the 4th finger" ], "alt_id": [], "def": "A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [], "xref": [ "UMLS:C4024390" ], "is_a": [ "HP:0009174", "HP:0010235" ], "is_obsolete": "", "replace_id": "" }, "HP:0009401": { "name": [ "small epiphyses of the 4th finger", "small epiphysis of the 4th finger" ], "alt_id": [], "def": "Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms.", "synonym": [ [ "small end part of ring finger bone", "small end part of ring finger bone" ] ], "xref": [ "UMLS:C4024389" ], "is_a": [ "HP:0009174", "HP:0010236" ], "is_obsolete": "", "replace_id": "" }, "HP:0009402": { "name": [ "stippling of the epiphyses of the 4th finger", "stippling of the epiphysis of the 4th finger" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger.", "synonym": [ [ "speckled calcifications in end part of ring finger bone", "speckled calcification in end part of ring finger bone" ] ], "xref": [ "UMLS:C4024388" ], "is_a": [ "HP:0009174", "HP:0010237" ], "is_obsolete": "", "replace_id": "" }, "HP:0009403": { "name": [ "triangular epiphyses of the 4th finger", "triangular epiphysis of the 4th finger" ], "alt_id": [], "def": "A triangular appearance of the epiphyses of the 4th finger of the hand.", "synonym": [ [ "delta - shaped epiphyses of the 4th finger", "delta - shaped epiphysis of the 4th finger" ], [ "triangular end part of ring finger bone", "triangular end part of ring finger bone" ] ], "xref": [ "UMLS:C4021482" ], "is_a": [ "HP:0009174", "HP:0010238" ], "is_obsolete": "", "replace_id": "" }, "HP:0009404": { "name": [ "broad phalanges of the 4th finger", "broad phalanx of the 4th finger" ], "alt_id": [], "def": "Increased width of the phalanges of the 4th finger.", "synonym": [ [ "broad bones of ring finger", "broad bone of ring finger" ] ], "xref": [ "UMLS:C4024387" ], "is_a": [ "HP:0009172", "HP:0009768" ], "is_obsolete": "", "replace_id": "" }, "HP:0009405": { "name": [ "bullet - shaped phalanges of the 4th finger", "bullet - shaped phalanx of the 4th finger" ], "alt_id": [], "def": "A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped of bone of ring finger", "bullet - shaped of bone of ring finger" ] ], "xref": [ "UMLS:C4024386" ], "is_a": [ "HP:0009172", "HP:0009769" ], "is_obsolete": "", "replace_id": "" }, "HP:0009406": { "name": [ "patchy sclerosis of 4th finger phalanx", "patchy sclerosis of 4th finger phalanx" ], "alt_id": [], "def": "Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger.", "synonym": [ [ "patchy sclerosis of the phalanges of the 4th finger", "patchy sclerosis of the phalanx of the 4th finger" ], [ "uneven increase in bone density in ring finger bone", "uneven increase in bone density in ring finger bone" ] ], "xref": [ "UMLS:C4021481" ], "is_a": [ "HP:0009772", "HP:0100920" ], "is_obsolete": "", "replace_id": "" }, "HP:0009407": { "name": [ "triangular shaped phalanges of the 4th finger", "triangular shape phalanx of the 4th finger" ], "alt_id": [], "def": "Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.", "synonym": [ [ "triangular shaped bone of ring finger", "triangular shape bone of ring finger" ] ], "xref": [ "UMLS:C4024385" ], "is_a": [ "HP:0009172", "HP:0009774" ], "is_obsolete": "", "replace_id": "" }, "HP:0009408": { "name": [ "aplasia / hypoplasia of the phalanges of the 4th finger", "aplasia / hypoplasia of the phalanx of the 4th finger" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small ring finger bones", "absent / small ring finger bone" ], [ "absent / underdeveloped ring finger bones", "absent / underdevelop ring finger bone" ] ], "xref": [ "UMLS:C4024384" ], "is_a": [ "HP:0009172", "HP:0009767" ], "is_obsolete": "", "replace_id": "" }, "HP:0009410": { "name": [ "absent epiphyses of the 3rd finger", "absent epiphysis of the 3rd finger" ], "alt_id": [], "def": "Absence of the epiphyses of the 3rd finger.", "synonym": [ [ "absent end part of middle finger bone", "absent end part of middle finger bone" ] ], "xref": [ "UMLS:C4024383" ], "is_a": [ "HP:0009320", "HP:0010228" ], "is_obsolete": "", "replace_id": "" }, "HP:0009411": { "name": [ "bracket epiphyses of the 3rd finger", "bracket epiphysis of the 3rd finger" ], "alt_id": [], "def": "An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of middle finger bone", "bracket shape end part of middle finger bone" ] ], "xref": [ "UMLS:C4024382" ], "is_a": [ "HP:0009320", "HP:0010229" ], "is_obsolete": "", "replace_id": "" }, "HP:0009412": { "name": [ "cone - shaped epiphyses of the 3rd finger", "cone - shaped epiphysis of the 3rd finger" ], "alt_id": [], "def": "A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.", "synonym": [ [ "cone - shaped end part of middle finger bone", "cone - shaped end part of middle finger bone" ] ], "xref": [ "UMLS:C4024381" ], "is_a": [ "HP:0009320", "HP:0010230" ], "is_obsolete": "", "replace_id": "" }, "HP:0009413": { "name": [ "enlarged epiphyses of the 3rd finger", "enlarged epiphysis of the 3rd finger" ], "alt_id": [], "def": "Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of middle finger bone", "enlarged end part of middle finger bone" ] ], "xref": [ "UMLS:C4024380" ], "is_a": [ "HP:0009320", "HP:0010231" ], "is_obsolete": "", "replace_id": "" }, "HP:0009414": { "name": [ "fragmentation of the epiphyses of the 3rd finger", "fragmentation of the epiphysis of the 3rd finger" ], "alt_id": [], "def": "Fragmented appearance of the epiphyses of the 3rd finger.", "synonym": [ [ "fragmentation of end part of middle finger bone", "fragmentation of end part of middle finger bone" ] ], "xref": [ "UMLS:C4024379" ], "is_a": [ "HP:0009320", "HP:0010232" ], "is_obsolete": "", "replace_id": "" }, "HP:0009415": { "name": [ "irregular epiphyses of the 3rd finger", "irregular epiphysis of the 3rd finger" ], "alt_id": [], "def": "Irregular radiographic opacity of the epiphyses of the 3rd finger.", "synonym": [ [ "irregular end part of middle finger bone", "irregular end part of middle finger bone" ] ], "xref": [ "UMLS:C4024378" ], "is_a": [ "HP:0009320", "HP:0010233" ], "is_obsolete": "", "replace_id": "" }, "HP:0009416": { "name": [ "ivory epiphyses of the 3rd finger", "ivory epiphysis of the 3rd finger" ], "alt_id": [], "def": "Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the middle finger bone", "increase bone density of end part of the middle finger bone" ] ], "xref": [ "UMLS:C4024377" ], "is_a": [ "HP:0009320", "HP:0010234", "HP:0100919" ], "is_obsolete": "", "replace_id": "" }, "HP:0009417": { "name": [ "pseudoepiphyses of the 3rd finger", "pseudoepiphyses of the 3rd finger" ], "alt_id": [ "HP:0004163" ], "def": "A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [ [ "pseudoepiphyses of middle finger phalanges", "pseudoepiphyses of middle finger phalanx" ] ], "xref": [ "UMLS:C4021480" ], "is_a": [ "HP:0009320", "HP:0010235" ], "is_obsolete": "", "replace_id": "" }, "HP:0009418": { "name": [ "small epiphyses of the 3rd finger", "small epiphysis of the 3rd finger" ], "alt_id": [], "def": "Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms.", "synonym": [ [ "small end part of middle finger bone", "small end part of middle finger bone" ] ], "xref": [ "UMLS:C4024376" ], "is_a": [ "HP:0009320", "HP:0010236" ], "is_obsolete": "", "replace_id": "" }, "HP:0009419": { "name": [ "stippling of the epiphyses of the 3rd finger", "stippling of the epiphysis of the 3rd finger" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger.", "synonym": [ [ "speckled calcifications in end part of middle finger bone", "speckled calcification in end part of middle finger bone" ] ], "xref": [ "UMLS:C4024375" ], "is_a": [ "HP:0009320", "HP:0010237" ], "is_obsolete": "", "replace_id": "" }, "HP:0009420": { "name": [ "triangular epiphyses of the 3rd finger", "triangular epiphysis of the 3rd finger" ], "alt_id": [], "def": "A triangular appearance of the epiphyses of the 3rd finger of the hand.", "synonym": [ [ "delta - shaped epiphyses of the 3rd finger", "delta - shaped epiphysis of the 3rd finger" ], [ "triangular end part of middle finger bone", "triangular end part of middle finger bone" ] ], "xref": [ "UMLS:C4021479" ], "is_a": [ "HP:0009320", "HP:0010238" ], "is_obsolete": "", "replace_id": "" }, "HP:0009421": { "name": [ "aplasia / hypoplasia of the distal phalanx of the 3rd finger", "aplasia / hypoplasia of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small outermost middle finger bone", "absent / small outermost middle finger bone" ], [ "absent / underdeveloped outermost middle finger bone", "absent / underdevelop outermost middle finger bone" ] ], "xref": [ "UMLS:C4024374" ], "is_a": [ "HP:0009357", "HP:0009447" ], "is_obsolete": "", "replace_id": "" }, "HP:0009422": { "name": [ "broad distal phalanx of the 3rd finger", "broad distal phalanx of the 3rd finger" ], "alt_id": [], "def": "Increased width of the distal phalanx of the 3rd finger.", "synonym": [ [ "broad outermost bone of middle finger", "broad outermost bone of middle finger" ] ], "xref": [ "UMLS:C4024373" ], "is_a": [ "HP:0009357", "HP:0009440", "HP:0009836" ], "is_obsolete": "", "replace_id": "" }, "HP:0009423": { "name": [ "bullet - shaped distal phalanx of the 3rd finger", "bullet - shaped distal phalanx of the 3rd finger" ], "alt_id": [], "def": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected.", "synonym": [ [ "bullet - shaped outermost bone of the middle finger", "bullet - shape outermost bone of the middle finger" ] ], "xref": [ "UMLS:C4024372" ], "is_a": [ "HP:0009357", "HP:0009441", "HP:0009837" ], "is_obsolete": "", "replace_id": "" }, "HP:0009424": { "name": [ "osteolytic defects of the distal phalanx of the 3rd finger", "osteolytic defect of the distal phalanx of the 3rd finger" ], "alt_id": [ "HP:0004181" ], "def": "Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger.", "synonym": [ [ "lytic defect of terminal phalanx of middle finger", "lytic defect of terminal phalanx of middle finger" ] ], "xref": [ "UMLS:C4021478" ], "is_a": [ "HP:0009357", "HP:0009443", "HP:0009839" ], "is_obsolete": "", "replace_id": "" }, "HP:0009425": { "name": [ "patchy sclerosis of the distal phalanx of the 3rd finger", "patchy sclerosis of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "Uneven (irregular) increase in bone density of the distal phalanx of the third finger.", "synonym": [ [ "uneven increase in bone density in the outermost bone of the 3rd finger", "uneven increase in bone density in the outermost bone of the 3rd finger" ] ], "xref": [ "UMLS:C4024371" ], "is_a": [ "HP:0009357", "HP:0009444", "HP:0009840", "HP:0100901" ], "is_obsolete": "", "replace_id": "" }, "HP:0009426": { "name": [ "distal / middle symphalangism of 3rd finger", "distal / middle symphalangism of 3rd finger" ], "alt_id": [ "HP:0009479", "HP:0009480" ], "def": "Fusion of the terminal/distal and middle phalanges of the 3rd finger.", "synonym": [ [ "fused outermost and middle bones of middle finger", "fuse outermost and middle bone of middle finger" ], [ "symphalangism of the distal and middle phalanges of the 3rd finger", "symphalangism of the distal and middle phalanx of the 3rd finger" ] ], "xref": [ "UMLS:C4021477" ], "is_a": [ "HP:0001204", "HP:0009357", "HP:0009435" ], "is_obsolete": "", "replace_id": "" }, "HP:0009427": { "name": [ "triangular shaped distal phalanx of the 3rd finger", "triangular shape distal phalanx of the 3rd finger" ], "alt_id": [], "def": "Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.", "synonym": [ [ "triangular shaped outermost bone of the middle finger", "triangular shape outermost bone of the middle finger" ] ], "xref": [ "UMLS:C4024370" ], "is_a": [ "HP:0009357", "HP:0009446", "HP:0009875" ], "is_obsolete": "", "replace_id": "" }, "HP:0009428": { "name": [ "curved distal phalanx of the 3rd finger", "curve distal phalanx of the 3rd finger" ], "alt_id": [], "def": "Curved appearance of the distal phalanx of the 3rd finger.", "synonym": [ [ "curved outermost bone of the 3rd finger", "curve outermost bone of the 3rd finger" ] ], "xref": [ "UMLS:C4024369" ], "is_a": [ "HP:0009357", "HP:0009442", "HP:0009838" ], "is_obsolete": "", "replace_id": "" }, "HP:0009429": { "name": [ "aplasia of the distal phalanx of the 3rd finger", "aplasia of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "Absence of the distal phalanx of the middle (3rd) finger.", "synonym": [ [ "absent of the outermost bone of the middle finger", "absent of the outermost bone of the middle finger" ] ], "xref": [ "UMLS:C4024368" ], "is_a": [ "HP:0009421", "HP:0009460", "HP:0009881" ], "is_obsolete": "", "replace_id": "" }, "HP:0009430": { "name": [ "broad middle phalanx of the 3rd finger", "broad middle phalanx of the 3rd finger" ], "alt_id": [ "HP:0004178" ], "def": "Increased width of the middle phalanx of the 3rd finger.", "synonym": [ [ "broad middle bone of middle finger", "broad middle bone of middle finger" ], [ "wide / broad middle phalanx of middle - finger", "wide / broad middle phalanx of middle - finger" ] ], "xref": [ "UMLS:C4021476" ], "is_a": [ "HP:0004172", "HP:0009440", "HP:0009844" ], "is_obsolete": "", "replace_id": "" }, "HP:0009431": { "name": [ "bullet - shaped middle phalanx of the 3rd finger", "bullet - shape middle phalanx of the 3rd finger" ], "alt_id": [], "def": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected.", "synonym": [ [ "bullet - shaped middle bone of middle finger", "bullet - shape middle bone of middle finger" ] ], "xref": [ "UMLS:C4024367" ], "is_a": [ "HP:0004172", "HP:0009441", "HP:0009845" ], "is_obsolete": "", "replace_id": "" }, "HP:0009432": { "name": [ "curved middle phalanx of the 3rd finger", "curve middle phalanx of the 3rd finger" ], "alt_id": [], "def": "Curved appearance of the middle phalanx of the 3rd (middle) finger.", "synonym": [ [ "curved middle bone of the middle finger", "curve middle bone of the middle finger" ] ], "xref": [ "UMLS:C4024366" ], "is_a": [ "HP:0004172", "HP:0009442", "HP:0009846" ], "is_obsolete": "", "replace_id": "" }, "HP:0009433": { "name": [ "osteolytic defects of the middle phalanx of the 3rd finger", "osteolytic defect of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger.", "synonym": [], "xref": [ "UMLS:C4024365" ], "is_a": [ "HP:0004172", "HP:0009443", "HP:0009847" ], "is_obsolete": "", "replace_id": "" }, "HP:0009434": { "name": [ "patchy sclerosis of the middle phalanx of the 3rd finger", "patchy sclerosis of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "Uneven (irregular) increase in bone density of the middle phalanx of the third finger.", "synonym": [ [ "uneven increase in bone density in the middle bone of the middle finger", "uneven increase in bone density in the middle bone of the middle finger" ] ], "xref": [ "UMLS:C4024364" ], "is_a": [ "HP:0004172", "HP:0009444", "HP:0009848", "HP:0100905" ], "is_obsolete": "", "replace_id": "" }, "HP:0009435": { "name": [ "symphalangism of middle phalanx of 3rd finger", "symphalangism of middle phalanx of 3rd finger" ], "alt_id": [], "def": "Fusion of the middle phalanx of the 3rd finger with another bone.", "synonym": [ [ "fused middle bone of middle finger", "fuse middle bone of middle finger" ] ], "xref": [ "UMLS:C4024363" ], "is_a": [ "HP:0004172", "HP:0009445", "HP:0009849" ], "is_obsolete": "", "replace_id": "" }, "HP:0009436": { "name": [ "triangular shaped middle phalanx of the 3rd finger", "triangular shape middle phalanx of the 3rd finger" ], "alt_id": [], "def": "Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.", "synonym": [ [ "triangular shaped middle bone of the middle finger", "triangular shape middle bone of the middle finger" ] ], "xref": [ "UMLS:C4024362" ], "is_a": [ "HP:0004172", "HP:0009446", "HP:0009850" ], "is_obsolete": "", "replace_id": "" }, "HP:0009437": { "name": [ "aplasia / hypoplasia of the middle phalanx of the 3rd finger", "aplasia / hypoplasia of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small middle bone of the middle finger", "absent / small middle bone of the middle finger" ], [ "absent / underdeveloped middle bone of the middle finger", "absent / underdevelop middle bone of the middle finger" ] ], "xref": [ "UMLS:C4024361" ], "is_a": [ "HP:0004172", "HP:0009447" ], "is_obsolete": "", "replace_id": "" }, "HP:0009438": { "name": [ "absent middle phalanx of 3rd finger", "absent middle phalanx of 3rd finger" ], "alt_id": [ "HP:0004173" ], "def": "Absence of the middle phalanx of the middle (3rd) finger.", "synonym": [ [ "absent middle bone of middle finger", "absent middle bone of middle finger" ], [ "absent middle phalanx of middle finger", "absent middle phalanx of middle finger" ], [ "aplasia of the middle phalanx of the 3rd finger", "aplasia of the middle phalanx of the 3rd finger" ] ], "xref": [ "UMLS:C4021475" ], "is_a": [ "HP:0009437", "HP:0009460", "HP:0010239" ], "is_obsolete": "", "replace_id": "" }, "HP:0009439": { "name": [ "short middle phalanx of the 3rd finger", "short middle phalanx of the 3rd finger" ], "alt_id": [ "HP:0004177", "HP:0006212" ], "def": "Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger.", "synonym": [ [ "brachymesophalangy iii ( finger )", "brachymesophalangy iii ( finger )" ], [ "hypoplastic / small middle phalanx of the 3rd finger", "hypoplastic / small middle phalanx of the 3rd finger" ], [ "short middle bone of middle finger", "short middle bone of middle finger" ] ], "xref": [ "UMLS:C4021474" ], "is_a": [ "HP:0005819", "HP:0009437", "HP:0009461" ], "is_obsolete": "", "replace_id": "" }, "HP:0009440": { "name": [ "broad phalanges of the 3rd finger", "broad phalanx of the 3rd finger" ], "alt_id": [ "HP:0004166" ], "def": "Increased width of the phalanges of the 3rd finger.", "synonym": [ [ "wide bones of middle finger", "wide bone of middle finger" ], [ "wide / broad middle finger phalanges", "wide / broad middle finger phalanx" ] ], "xref": [ "UMLS:C4021473" ], "is_a": [ "HP:0009316", "HP:0009768" ], "is_obsolete": "", "replace_id": "" }, "HP:0009441": { "name": [ "bullet - shaped phalanges of the 3rd finger", "bullet - shaped phalanx of the 3rd finger" ], "alt_id": [], "def": "A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped bones of middle finger", "bullet - shaped bone of middle finger" ] ], "xref": [ "UMLS:C4024360" ], "is_a": [ "HP:0009316", "HP:0009769" ], "is_obsolete": "", "replace_id": "" }, "HP:0009442": { "name": [ "curved phalanges of the 3rd finger", "curve phalanx of the 3rd finger" ], "alt_id": [], "def": "Curved appearance of the phalanges of the 3rd finger.", "synonym": [ [ "curved bones of middle finger", "curve bone of middle finger" ] ], "xref": [ "UMLS:C4024359" ], "is_a": [ "HP:0004095", "HP:0009316", "HP:0009770" ], "is_obsolete": "", "replace_id": "" }, "HP:0009443": { "name": [ "osteolytic defects of the phalanges of the 3rd finger", "osteolytic defect of the phalanx of the 3rd finger" ], "alt_id": [ "HP:0004159" ], "def": "Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger.", "synonym": [ [ "lytic defects of middle finger phalanges", "lytic defect of middle finger phalanx" ] ], "xref": [ "UMLS:C4021472" ], "is_a": [ "HP:0009316", "HP:0009771" ], "is_obsolete": "", "replace_id": "" }, "HP:0009444": { "name": [ "patchy sclerosis of 3rd finger phalanx", "patchy sclerosis of 3rd finger phalanx" ], "alt_id": [ "HP:0004160" ], "def": "Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger.", "synonym": [ [ "patchy sclerosis of middle finger phalanges", "patchy sclerosis of middle finger phalanx" ], [ "patchy sclerosis of the phalanges of the 3rd finger", "patchy sclerosis of the phalanx of the 3rd finger" ], [ "uneven increase in bone density in middle finger bone", "uneven increase in bone density in middle finger bone" ] ], "xref": [ "UMLS:C4021471" ], "is_a": [ "HP:0009772", "HP:0100919" ], "is_obsolete": "", "replace_id": "" }, "HP:0009445": { "name": [ "symphalangism of the 3rd finger", "symphalangism of the 3rd finger" ], "alt_id": [], "def": "Fusion of two or more bones of the 3rd finger.", "synonym": [ [ "fused middle finger", "fuse middle finger" ] ], "xref": [ "UMLS:C4024358" ], "is_a": [ "HP:0009316", "HP:0009700", "HP:0009773" ], "is_obsolete": "", "replace_id": "" }, "HP:0009446": { "name": [ "triangular shaped phalanges of the 3rd finger", "triangular shape phalanx of the 3rd finger" ], "alt_id": [], "def": "Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.", "synonym": [ [ "triangular shaped bone of the middle finger", "triangular shape bone of the middle finger" ] ], "xref": [ "UMLS:C4024357" ], "is_a": [ "HP:0009316", "HP:0009774" ], "is_obsolete": "", "replace_id": "" }, "HP:0009447": { "name": [ "aplasia / hypoplasia of the phalanges of the 3rd finger", "aplasia / hypoplasia of the phalanx of the 3rd finger" ], "alt_id": [ "HP:0004156", "HP:0004158", "HP:0004164", "HP:0004165", "HP:0009449" ], "def": "", "synonym": [ [ "absent / small middle finger bone", "absent / small middle finger bone" ], [ "absent / underdeveloped middle finger bone", "absent / underdevelop middle finger bone" ], [ "hypoplastic middle finger phalanges", "hypoplastic middle finger phalanx" ], [ "short middle finger phalanges", "short middle finger phalanx" ], [ "small middle finger phalanges", "small middle finger phalanx" ] ], "xref": [ "UMLS:C4024356" ], "is_a": [ "HP:0009316", "HP:0009767" ], "is_obsolete": "", "replace_id": "" }, "HP:0009448": { "name": [ "obsolete aplasia of the phalanges of the 3rd finger", "obsolete aplasia of the phalanx of the 3rd finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0009449": { "name": [ "obsolete hypoplastic / small phalanges of the 3rd finger", "obsolete hypoplastic / small phalanx of the 3rd finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0009447" }, "HP:0009450": { "name": [ "broad proximal phalanx of the 3rd finger", "broad proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "Increased width of the proximal phalanx of the 3rd finger.", "synonym": [ [ "broad innermost bone of middle finger", "broad innermost bone of middle finger" ] ], "xref": [ "UMLS:C4024355" ], "is_a": [ "HP:0009358", "HP:0009440", "HP:0009852" ], "is_obsolete": "", "replace_id": "" }, "HP:0009451": { "name": [ "bullet - shaped proximal phalanx of the 3rd finger", "bullet - shape proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected.", "synonym": [ [ "bullet - shaped innermost bone of the middle finger", "bullet - shape innermost bone of the middle finger" ] ], "xref": [ "UMLS:C4024354" ], "is_a": [ "HP:0009358", "HP:0009441", "HP:0009853" ], "is_obsolete": "", "replace_id": "" }, "HP:0009452": { "name": [ "curved proximal phalanx of the 3rd finger", "curve proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "Curved appearance of the proximal phalanx of the 3rd finger.", "synonym": [ [ "curved innermost bone of middle finger", "curve innermost bone of middle finger" ] ], "xref": [ "UMLS:C4024353" ], "is_a": [ "HP:0009358", "HP:0009442", "HP:0009854" ], "is_obsolete": "", "replace_id": "" }, "HP:0009453": { "name": [ "osteolytic defects of the proximal phalanx of the 3rd finger", "osteolytic defect of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger.", "synonym": [], "xref": [ "UMLS:C4024352" ], "is_a": [ "HP:0009358", "HP:0009443", "HP:0009855" ], "is_obsolete": "", "replace_id": "" }, "HP:0009454": { "name": [ "patchy sclerosis of the proximal phalanx of the 3rd finger", "patchy sclerosis of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "Uneven (irregular) increase in bone density of the proximal phalanx of the third finger.", "synonym": [ [ "uneven increase in bone density in the innermost bone of the middle finger", "uneven increase in bone density in the innermost bone of the middle finger" ] ], "xref": [ "UMLS:C4024351" ], "is_a": [ "HP:0009358", "HP:0009444", "HP:0009856", "HP:0100909" ], "is_obsolete": "", "replace_id": "" }, "HP:0009455": { "name": [ "symphalangism affecting the proximal phalanx of the 3rd finger", "symphalangism affect the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "Fusion of the proximal phalanx of the 3rd finger with another bone.", "synonym": [ [ "fused innermost bone of middle finger", "fuse innermost bone of middle finger" ] ], "xref": [ "UMLS:C4024350" ], "is_a": [ "HP:0009358", "HP:0009445", "HP:0009857" ], "is_obsolete": "", "replace_id": "" }, "HP:0009456": { "name": [ "triangular shaped proximal phalanx of the 3rd finger", "triangular shape proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.", "synonym": [ [ "triangular shaped innermost bone of middle finger", "triangular shape innermost bone of middle finger" ] ], "xref": [ "UMLS:C4024349" ], "is_a": [ "HP:0009358", "HP:0009446", "HP:0009858" ], "is_obsolete": "", "replace_id": "" }, "HP:0009457": { "name": [ "aplasia / hypoplasia of the proximal phalanx of the 3rd finger", "aplasia / hypoplasia of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small innermost bone of middle finger", "absent / small innermost bone of middle finger" ], [ "absent / underdeveloped innermost bone of middle finger", "absent / underdevelop innermost bone of middle finger" ] ], "xref": [ "UMLS:C4024348" ], "is_a": [ "HP:0009358", "HP:0009447" ], "is_obsolete": "", "replace_id": "" }, "HP:0009458": { "name": [ "aplasia of the proximal phalanx of the 3rd finger", "aplasia of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "Absence of the proximal phalanx of the 3rd finger.", "synonym": [ [ "absent innermost bone of middle finger", "absent innermost bone of middle finger" ] ], "xref": [ "UMLS:C4024347" ], "is_a": [ "HP:0009457", "HP:0009460", "HP:0010242" ], "is_obsolete": "", "replace_id": "" }, "HP:0009459": { "name": [ "short proximal phalanx of the 3rd finger", "short proximal phalanx of the 3rd finger" ], "alt_id": [ "HP:0004169", "HP:0004170" ], "def": "Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger.", "synonym": [ [ "hypoplastic / small proximal phalanx of the 3rd finger", "hypoplastic / small proximal phalanx of the 3rd finger" ], [ "short innermost bone of middle finger", "short innermost bone of middle finger" ], [ "short proximal middle - finger phalanx", "short proximal middle - finger phalanx" ], [ "short proximal phalanx of the third finger", "short proximal phalanx of the third finger" ], [ "small proximal middle - finger phalanx", "small proximal middle - finger phalanx" ] ], "xref": [ "UMLS:C4021470" ], "is_a": [ "HP:0009457", "HP:0009461", "HP:0010241" ], "is_obsolete": "", "replace_id": "" }, "HP:0009460": { "name": [ "aplasia of the 3rd finger", "aplasia of the 3rd finger" ], "alt_id": [], "def": "Absent 3rd finger.", "synonym": [ [ "absent middle finger", "absent middle finger" ] ], "xref": [ "UMLS:C4024346" ], "is_a": [ "HP:0009318", "HP:0009380" ], "is_obsolete": "", "replace_id": "" }, "HP:0009461": { "name": [ "short 3rd finger", "short 3rd finger" ], "alt_id": [ "HP:0004154" ], "def": "Hypoplastic/small 3rd (middle) finger.", "synonym": [ [ "hypoplastic / small 3rd finger", "hypoplastic / small 3rd finger" ], [ "short 3rd finger", "short 3rd finger" ], [ "short middle finger", "short middle finger" ] ], "xref": [ "UMLS:C4021469" ], "is_a": [ "HP:0009318", "HP:0009381" ], "is_obsolete": "", "replace_id": "" }, "HP:0009462": { "name": [ "radial deviation of the 3rd finger", "radial deviation of the 3rd finger" ], "alt_id": [], "def": "Displacement of the 3rd finger towards the radial side (i.e., towards the thumb).", "synonym": [ [ "inward turned middle finger", "inward turn middle finger" ] ], "xref": [ "UMLS:C4024345" ], "is_a": [ "HP:0009317", "HP:0009466" ], "is_obsolete": "", "replace_id": "" }, "HP:0009463": { "name": [ "ulnar deviation of the 3rd finger", "ulnar deviation of the 3rd finger" ], "alt_id": [ "HP:0005865", "HP:0006022" ], "def": "Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger).", "synonym": [ [ "ulnar deviation of middle fingers", "ulnar deviation of middle finger" ] ], "xref": [ "UMLS:C3554614" ], "is_a": [ "HP:0009317", "HP:0009465" ], "is_obsolete": "", "replace_id": "" }, "HP:0009464": { "name": [ "ulnar deviation of the 2nd finger", "ulnar deviation of the 2nd finger" ], "alt_id": [ "HP:0004102", "HP:0005811" ], "def": "Displacement of the 2nd (index) finger towards the ulnar side.", "synonym": [ [ "medially deviated index finger", "medially deviate index finger" ], [ "second finger ulnar deviation", "second finger ulnar deviation" ], [ "ulnar angulation of the index finger", "ulnar angulation of the index finger" ], [ "ulnar deviation of index fingers", "ulnar deviation of index finger" ] ], "xref": [ "UMLS:C1844891" ], "is_a": [ "HP:0009465", "HP:0009468" ], "is_obsolete": "", "replace_id": "" }, "HP:0009465": { "name": [ "ulnar deviation of finger", "ulnar deviation of finger" ], "alt_id": [ "HP:0001200", "HP:0004096" ], "def": "Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.", "synonym": [ [ "finger bends toward pinky", "finger bend toward pinky" ], [ "ulnar drift", "ulnar drift" ] ], "xref": [ "SNOMEDCT_US:276662009", "SNOMEDCT_US:367510009", "UMLS:C0231679" ], "is_a": [ "HP:0001193", "HP:0004097" ], "is_obsolete": "", "replace_id": "" }, "HP:0009466": { "name": [ "radial deviation of finger", "radial deviation of finger" ], "alt_id": [ "HP:0001157", "HP:0001213", "HP:0001503" ], "def": "Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.", "synonym": [ [ "radially deviated fingers", "radially deviate finger" ], [ "radially deviated phalanges", "radially deviate phalanx" ] ], "xref": [ "UMLS:C1836189" ], "is_a": [ "HP:0004097", "HP:0009485" ], "is_obsolete": "", "replace_id": "" }, "HP:0009467": { "name": [ "radial deviation of the 2nd finger", "radial deviation of the 2nd finger" ], "alt_id": [ "HP:0004103", "HP:0006053" ], "def": "Displacement of the 2nd finger towards the radial side.", "synonym": [ [ "radially deviated index finger", "radially deviate index finger" ] ], "xref": [ "UMLS:C1844709" ], "is_a": [ "HP:0009466", "HP:0009468" ], "is_obsolete": "", "replace_id": "" }, "HP:0009468": { "name": [ "deviation of the 2nd finger", "deviation of the 2nd finger" ], "alt_id": [ "HP:0004101" ], "def": "Displacement of the 2nd finger from its normal position.", "synonym": [ [ "deviated index finger", "deviate index finger" ], [ "displaced index finger", "displaced index finger" ] ], "xref": [ "UMLS:C4021468" ], "is_a": [ "HP:0004097", "HP:0004100" ], "is_obsolete": "", "replace_id": "" }, "HP:0009469": { "name": [ "contracture of the distal interphalangeal joint of the 3rd finger", "contracture of the distal interphalangeal joint of the 3rd finger" ], "alt_id": [], "def": "Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.", "synonym": [ [ "contracture of the outermost hinge joint of the 3rd finger", "contracture of the outermost hinge joint of the 3rd finger" ] ], "xref": [ "UMLS:C4024344" ], "is_a": [ "HP:0009319", "HP:0009697" ], "is_obsolete": "", "replace_id": "" }, "HP:0009470": { "name": [ "contracture of the metacarpophalangeal joint of the 3rd finger", "contracture of the metacarpophalangeal joint of the 3rd finger" ], "alt_id": [], "def": "Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue.", "synonym": [], "xref": [ "UMLS:C4024343" ], "is_a": [ "HP:0009319" ], "is_obsolete": "", "replace_id": "" }, "HP:0009471": { "name": [ "contracture of the proximal interphalangeal joint of the 3rd finger", "contracture of the proximal interphalangeal joint of the 3rd finger" ], "alt_id": [], "def": "Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.", "synonym": [ [ "camptodactyly of the 3rd finger", "camptodactyly of the 3rd finger" ], [ "camptodactyly of the third finger", "camptodactyly of the third finger" ] ], "xref": [ "UMLS:C4021467" ], "is_a": [ "HP:0009319", "HP:0100490" ], "is_obsolete": "", "replace_id": "" }, "HP:0009473": { "name": [ "joint contracture of the hand", "joint contracture of the hand" ], "alt_id": [ "HP:0001160", "HP:0001237", "HP:0004094", "HP:0005814", "HP:0006096", "HP:0006173", "HP:0006215", "HP:0006238", "HP:0006255", "HP:0009409", "HP:0009472", "HP:0010563" ], "def": "Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.", "synonym": [ [ "contractures involving the hands", "contracture involve the hand" ], [ "contractures of the hands", "contracture of the hand" ] ], "xref": [ "MEDDRA:10010821 \"Contracture of hand joint\"", "SNOMEDCT_US:86414002", "UMLS:C0158113" ], "is_a": [ "HP:0001155", "HP:0009810", "HP:0100360" ], "is_obsolete": "", "replace_id": "" }, "HP:0009477": { "name": [ "proximal / middle symphalangism of 4th finger", "proximal / middle symphalangism of 4th finger" ], "alt_id": [ "HP:0009476" ], "def": "Fusion of the proximal and middle phalanges of the 4th finger.", "synonym": [ [ "fused innermost and middle bone of fourth finger", "fuse innermost and middle bone of fourth finger" ] ], "xref": [ "UMLS:C4024342" ], "is_a": [ "HP:0006152", "HP:0009308", "HP:0009314" ], "is_obsolete": "", "replace_id": "" }, "HP:0009478": { "name": [ "symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal", "symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal" ], "alt_id": [], "def": "Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal.", "synonym": [ [ "fused innermost bone of ring finger with 4th long bone of hand", "fuse innermost bone of ring finger with 4th long bone of hand" ] ], "xref": [ "UMLS:C4024341" ], "is_a": [ "HP:0005880", "HP:0009314", "HP:0009707" ], "is_obsolete": "", "replace_id": "" }, "HP:0009482": { "name": [ "proximal / middle symphalangism of 3rd finger", "proximal / middle symphalangism of 3rd finger" ], "alt_id": [ "HP:0009481" ], "def": "Fusion of the proximal and middle phalanges of the 3rd finger.", "synonym": [ [ "fused of innermost and middle bones of middle finger", "fuse of innermost and middle bone of middle finger" ] ], "xref": [ "UMLS:C4024340" ], "is_a": [ "HP:0006152", "HP:0009435", "HP:0009455" ], "is_obsolete": "", "replace_id": "" }, "HP:0009483": { "name": [ "symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal", "symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal" ], "alt_id": [], "def": "Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal.", "synonym": [ [ "fused innermost bones of middle finger with middle long bone of hand", "fuse innermost bone of middle finger with middle long bone of hand" ] ], "xref": [ "UMLS:C4024339" ], "is_a": [ "HP:0005880", "HP:0009455", "HP:0009706" ], "is_obsolete": "", "replace_id": "" }, "HP:0009484": { "name": [ "deviation of the hand or of fingers of the hand", "deviation of the hand or of finger of the hand" ], "alt_id": [], "def": "Displacement of the hand or of fingers of the hand from their normal position.", "synonym": [ [ "displaced hand or fingers of the hand", "displaced hand or finger of the hand" ] ], "xref": [ "UMLS:C4024338" ], "is_a": [ "HP:0001155" ], "is_obsolete": "", "replace_id": "" }, "HP:0009485": { "name": [ "radial deviation of the hand or of fingers of the hand", "radial deviation of the hand or of finger of the hand" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024337" ], "is_a": [ "HP:0009484" ], "is_obsolete": "", "replace_id": "" }, "HP:0009486": { "name": [ "radial deviation of the hand", "radial deviation of the hand" ], "alt_id": [ "HP:0001203" ], "def": "An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).", "synonym": [ [ "radial deviation of hands", "radial deviation of hand" ] ], "xref": [ "SNOMEDCT_US:299035006", "UMLS:C0575803" ], "is_a": [ "HP:0009485" ], "is_obsolete": "", "replace_id": "" }, "HP:0009487": { "name": [ "ulnar deviation of the hand", "ulnar deviation of the hand" ], "alt_id": [], "def": "Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).", "synonym": [ [ "ulnar deviation of hands", "ulnar deviation of hand" ], [ "ulnar deviation of the hands", "ulnar deviation of the hand" ] ], "xref": [ "SNOMEDCT_US:249757009", "UMLS:C0241521" ], "is_a": [ "HP:0001193" ], "is_obsolete": "", "replace_id": "" }, "HP:0009488": { "name": [ "absent epiphyses of the 2nd finger", "absent epiphysis of the 2nd finger" ], "alt_id": [], "def": "Absence of the epiphyses of the 2nd finger.", "synonym": [ [ "absent end part of index finger", "absent end part of index finger" ] ], "xref": [ "UMLS:C4024336" ], "is_a": [ "HP:0006263", "HP:0010228" ], "is_obsolete": "", "replace_id": "" }, "HP:0009489": { "name": [ "bracket epiphyses of the 2nd finger", "bracket epiphysis of the 2nd finger" ], "alt_id": [ "HP:0004109" ], "def": "An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of index finger", "bracket shape end part of index finger" ], [ "bracket - epiphyses of index finger", "bracket - epiphysis of index finger" ] ], "xref": [ "UMLS:C4021466" ], "is_a": [ "HP:0006263", "HP:0010229" ], "is_obsolete": "", "replace_id": "" }, "HP:0009490": { "name": [ "cone - shaped epiphyses of the 2nd finger", "cone - shaped epiphysis of the 2nd finger" ], "alt_id": [], "def": "A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.", "synonym": [ [ "cone - shaped end part of the index finger", "cone - shaped end part of the index finger" ] ], "xref": [ "UMLS:C4024335" ], "is_a": [ "HP:0006263", "HP:0010230" ], "is_obsolete": "", "replace_id": "" }, "HP:0009491": { "name": [ "enlarged epiphyses of the 2nd finger", "enlarged epiphysis of the 2nd finger" ], "alt_id": [], "def": "Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of the index finger", "enlarged end part of the index finger" ] ], "xref": [ "UMLS:C4024334" ], "is_a": [ "HP:0006263", "HP:0010231" ], "is_obsolete": "", "replace_id": "" }, "HP:0009492": { "name": [ "fragmentation of the epiphyses of the 2nd finger", "fragmentation of the epiphysis of the 2nd finger" ], "alt_id": [], "def": "Fragmented appearance of the epiphyses of the 2nd finger.", "synonym": [ [ "fragmentation of end part of the index finger", "fragmentation of end part of the index finger" ] ], "xref": [ "UMLS:C4024333" ], "is_a": [ "HP:0006263", "HP:0010232" ], "is_obsolete": "", "replace_id": "" }, "HP:0009493": { "name": [ "irregular epiphyses of the 2nd finger", "irregular epiphysis of the 2nd finger" ], "alt_id": [], "def": "Irregular radiographic opacity of the epiphyses of the 2nd finger.", "synonym": [ [ "irregular end part of the index finger", "irregular end part of the index finger" ] ], "xref": [ "UMLS:C4024332" ], "is_a": [ "HP:0006263", "HP:0010233" ], "is_obsolete": "", "replace_id": "" }, "HP:0009494": { "name": [ "ivory epiphyses of the 2nd finger", "ivory epiphysis of the 2nd finger" ], "alt_id": [], "def": "Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the index finger bone", "increase bone density of end part of the index finger bone" ] ], "xref": [ "UMLS:C4024331" ], "is_a": [ "HP:0006263", "HP:0010234", "HP:0100918" ], "is_obsolete": "", "replace_id": "" }, "HP:0009495": { "name": [ "pseudoepiphyses of the 2nd finger", "pseudoepiphyses of the 2nd finger" ], "alt_id": [ "HP:0004107", "HP:0006142" ], "def": "A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [ [ "accessory index finger phalanges", "accessory index finger phalanx" ] ], "xref": [ "UMLS:C4021465" ], "is_a": [ "HP:0006263", "HP:0010235" ], "is_obsolete": "", "replace_id": "" }, "HP:0009496": { "name": [ "small epiphyses of the 2nd finger", "small epiphysis of the 2nd finger" ], "alt_id": [], "def": "Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms.", "synonym": [ [ "small end part of the index finger", "small end part of the index finger" ] ], "xref": [ "UMLS:C4024330" ], "is_a": [ "HP:0006263", "HP:0010236" ], "is_obsolete": "", "replace_id": "" }, "HP:0009497": { "name": [ "stippling of the epiphyses of the 2nd finger", "stippling of the epiphysis of the 2nd finger" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger.", "synonym": [ [ "speckled calcifications in end part of the index finger", "speckled calcification in end part of the index finger" ] ], "xref": [ "UMLS:C4024329" ], "is_a": [ "HP:0006263", "HP:0010237" ], "is_obsolete": "", "replace_id": "" }, "HP:0009498": { "name": [ "triangular epiphyses of the 2nd finger", "triangular epiphysis of the 2nd finger" ], "alt_id": [], "def": "A triangular appearance of the epiphyses of the 2nd finger of the hand.", "synonym": [ [ "triangular end part of the index finger", "triangular end part of the index finger" ] ], "xref": [ "UMLS:C4024328" ], "is_a": [ "HP:0006263", "HP:0010238" ], "is_obsolete": "", "replace_id": "" }, "HP:0009499": { "name": [ "abnormality of the epiphysis of the distal phalanx of the 2nd finger", "abnormality of the epiphysis of the distal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004146" ], "def": "", "synonym": [ [ "abnormality of the end part of the outermost bone of the index finger", "abnormality of the end part of the outermost bone of the index finger" ], [ "epiphyseal abnormality of terminal index finger phalanx", "epiphyseal abnormality of terminal index finger phalanx" ] ], "xref": [ "UMLS:C4021464" ], "is_a": [ "HP:0006263", "HP:0009542", "HP:0010243" ], "is_obsolete": "", "replace_id": "" }, "HP:0009500": { "name": [ "abnormality of the epiphysis of the middle phalanx of the 2nd finger", "abnormality of the epiphysis of the middle phalanx of the 2nd finger" ], "alt_id": [ "HP:0004135" ], "def": "", "synonym": [ [ "abnormality of end part of the middle bone of the index finger", "abnormality of end part of the middle bone of the index finger" ], [ "epiphyseal abnormality of middle phalanx of the 2nd finger", "epiphyseal abnormality of middle phalanx of the 2nd finger" ] ], "xref": [ "UMLS:C4021463" ], "is_a": [ "HP:0006263", "HP:0009543", "HP:0010244" ], "is_obsolete": "", "replace_id": "" }, "HP:0009501": { "name": [ "abnormality of the epiphysis of the proximal phalanx of the 2nd finger", "abnormality of the epiphysis of the proximal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004127" ], "def": "", "synonym": [ [ "epiphyseal abnormality of the proximal phalanx of the 2nd finger", "epiphyseal abnormality of the proximal phalanx of the 2nd finger" ] ], "xref": [ "UMLS:C4021462" ], "is_a": [ "HP:0006263", "HP:0009544", "HP:0010245" ], "is_obsolete": "", "replace_id": "" }, "HP:0009502": { "name": [ "absent epiphysis of the distal phalanx of the 2nd finger", "absent epiphysis of the distal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004147" ], "def": "Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger.", "synonym": [ [ "absent end part of the outermost bone of the index finger", "absent end part of the outermost bone of the index finger" ], [ "absent ossification / absent epiphysis of terminal index finger phalanx", "absent ossification / absent epiphysis of terminal index finger phalanx" ] ], "xref": [ "UMLS:C4021461" ], "is_a": [ "HP:0009488", "HP:0009499", "HP:0010246" ], "is_obsolete": "", "replace_id": "" }, "HP:0009503": { "name": [ "bracket epiphysis of the distal phalanx of the 2nd finger", "bracket epiphysis of the distal phalanx of the 2nd finger" ], "alt_id": [], "def": "An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of the outermost bone of the index finger", "bracket shape end part of the outermost bone of the index finger" ] ], "xref": [ "UMLS:C4024327" ], "is_a": [ "HP:0009489", "HP:0009499", "HP:0010247" ], "is_obsolete": "", "replace_id": "" }, "HP:0009504": { "name": [ "cone - shaped epiphysis of the distal phalanx of the 2nd finger", "cone - shaped epiphysis of the distal phalanx of the 2nd finger" ], "alt_id": [], "def": "A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.", "synonym": [ [ "cone - shaped end part of the outermost bone of the index finger", "cone - shaped end part of the outermost bone of the index finger" ] ], "xref": [ "UMLS:C4024326" ], "is_a": [ "HP:0009490", "HP:0009499", "HP:0010248" ], "is_obsolete": "", "replace_id": "" }, "HP:0009505": { "name": [ "enlarged epiphysis of the distal phalanx of the 2nd finger", "enlarged epiphysis of the distal phalanx of the 2nd finger" ], "alt_id": [], "def": "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of the outermost bone of the index finger", "enlarged end part of the outermost bone of the index finger" ] ], "xref": [ "UMLS:C4024325" ], "is_a": [ "HP:0009491", "HP:0009499", "HP:0010249" ], "is_obsolete": "", "replace_id": "" }, "HP:0009506": { "name": [ "fragmentation of the epiphysis of the distal phalanx of the 2nd finger", "fragmentation of the epiphysis of the distal phalanx of the 2nd finger" ], "alt_id": [], "def": "Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger.", "synonym": [ [ "fragmentation of end part of the outermost bone of the index finger", "fragmentation of end part of the outermost bone of the index finger" ] ], "xref": [ "UMLS:C4024324" ], "is_a": [ "HP:0009492", "HP:0009499", "HP:0010250" ], "is_obsolete": "", "replace_id": "" }, "HP:0009507": { "name": [ "irregular epiphysis of the distal phalanx of the 2nd finger", "irregular epiphysis of the distal phalanx of the 2nd finger" ], "alt_id": [], "def": "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger.", "synonym": [ [ "irregular end part of the outermost bone of the index finger", "irregular end part of the outermost bone of the index finger" ] ], "xref": [ "UMLS:C4024323" ], "is_a": [ "HP:0009493", "HP:0009499", "HP:0010251" ], "is_obsolete": "", "replace_id": "" }, "HP:0009508": { "name": [ "ivory epiphysis of the distal phalanx of the 2nd finger", "ivory epiphysis of the distal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004148" ], "def": "Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the outermost bone of the index finger", "increase bone density of end part of the outermost bone of the index finger" ], [ "ivory epiphysis of terminal index finger phalanx", "ivory epiphysis of terminal index finger phalanx" ] ], "xref": [ "UMLS:C4021460" ], "is_a": [ "HP:0009494", "HP:0009499", "HP:0010252" ], "is_obsolete": "", "replace_id": "" }, "HP:0009509": { "name": [ "pseudoepiphysis of the distal phalanx of the 2nd finger", "pseudoepiphysis of the distal phalanx of the 2nd finger" ], "alt_id": [], "def": "A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [], "xref": [ "UMLS:C4024322" ], "is_a": [ "HP:0009495", "HP:0009499", "HP:0010253" ], "is_obsolete": "", "replace_id": "" }, "HP:0009510": { "name": [ "small epiphysis of the distal phalanx of the 2nd finger", "small epiphysis of the distal phalanx of the 2nd finger" ], "alt_id": [], "def": "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.", "synonym": [ [ "small end part of the outermost bone of the index finger", "small end part of the outermost bone of the index finger" ] ], "xref": [ "UMLS:C4024321" ], "is_a": [ "HP:0009496", "HP:0009499", "HP:0010254" ], "is_obsolete": "", "replace_id": "" }, "HP:0009511": { "name": [ "stippling of the epiphysis of the distal phalanx of the 2nd finger", "stippling of the epiphysis of the distal phalanx of the 2nd finger" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger.", "synonym": [ [ "speckled calcifications in end part of the outermost bone of the index finger", "speckled calcification in end part of the outermost bone of the index finger" ] ], "xref": [ "UMLS:C4024320" ], "is_a": [ "HP:0009497", "HP:0009499", "HP:0010255" ], "is_obsolete": "", "replace_id": "" }, "HP:0009512": { "name": [ "triangular epiphysis of the distal phalanx of the 2nd finger", "triangular epiphysis of the distal phalanx of the 2nd finger" ], "alt_id": [], "def": "A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.", "synonym": [ [ "triangular end part of the outermost bone of the index finger", "triangular end part of the outermost bone of the index finger" ] ], "xref": [ "UMLS:C4024319" ], "is_a": [ "HP:0009498", "HP:0009499", "HP:0010256" ], "is_obsolete": "", "replace_id": "" }, "HP:0009513": { "name": [ "absent epiphysis of the middle phalanx of the 2nd finger", "absent epiphysis of the middle phalanx of the 2nd finger" ], "alt_id": [ "HP:0004136" ], "def": "", "synonym": [ [ "absent epiphyses of middle phalanx of index finger", "absent epiphysis of middle phalanx of index finger" ], [ "missing end part of the middle long bone of the index finger", "miss end part of the middle long bone of the index finger" ] ], "xref": [ "UMLS:C4021459" ], "is_a": [ "HP:0009488", "HP:0009500", "HP:0010257" ], "is_obsolete": "", "replace_id": "" }, "HP:0009514": { "name": [ "bracket epiphysis of the middle phalanx of the 2nd finger", "bracket epiphysis of the middle phalanx of the 2nd finger" ], "alt_id": [], "def": "An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of the middle long bone of the index finger", "bracket shape end part of the middle long bone of the index finger" ] ], "xref": [ "UMLS:C4024318" ], "is_a": [ "HP:0009489", "HP:0009500", "HP:0010258" ], "is_obsolete": "", "replace_id": "" }, "HP:0009515": { "name": [ "cone - shaped epiphysis of the middle phalanx of the 2nd finger", "cone - shaped epiphysis of the middle phalanx of the 2nd finger" ], "alt_id": [ "HP:0004137" ], "def": "", "synonym": [ [ "cone - shaped end part of the middle long bone of the index finger", "cone - shaped end part of the middle long bone of the index finger" ], [ "cone - shaped epiphyses of middle phalanx of index finger", "cone - shaped epiphysis of middle phalanx of index finger" ] ], "xref": [ "UMLS:C4021458" ], "is_a": [ "HP:0009490", "HP:0009500", "HP:0010259" ], "is_obsolete": "", "replace_id": "" }, "HP:0009516": { "name": [ "enlarged epiphysis of the middle phalanx of the 2nd finger", "enlarged epiphysis of the middle phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged end part of the middle bone of the index finger", "enlarged end part of the middle bone of the index finger" ] ], "xref": [ "UMLS:C4024317" ], "is_a": [ "HP:0009491", "HP:0009500", "HP:0010260" ], "is_obsolete": "", "replace_id": "" }, "HP:0009517": { "name": [ "fragmentation of the epiphysis of the middle phalanx of the 2nd finger", "fragmentation of the epiphysis of the middle phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "fragmentation of end part of the middle long bone of the index finger", "fragmentation of end part of the middle long bone of the index finger" ] ], "xref": [ "UMLS:C4024316" ], "is_a": [ "HP:0009492", "HP:0009500", "HP:0010261" ], "is_obsolete": "", "replace_id": "" }, "HP:0009518": { "name": [ "irregular epiphysis of the middle phalanx of the 2nd finger", "irregular epiphysis of the middle phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the middle long bone of the index finger", "irregular end part of the middle long bone of the index finger" ] ], "xref": [ "UMLS:C4024315" ], "is_a": [ "HP:0009493", "HP:0009500", "HP:0010262" ], "is_obsolete": "", "replace_id": "" }, "HP:0009519": { "name": [ "ivory epiphysis of the middle phalanx of the 2nd finger", "ivory epiphysis of the middle phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density of end part of the middle bone of the index finger", "increase bone density of end part of the middle bone of the index finger" ] ], "xref": [ "UMLS:C4024314" ], "is_a": [ "HP:0009494", "HP:0009500", "HP:0010263" ], "is_obsolete": "", "replace_id": "" }, "HP:0009520": { "name": [ "pseudoepiphysis of the middle phalanx of the 2nd finger", "pseudoepiphysis of the middle phalanx of the 2nd finger" ], "alt_id": [], "def": "A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [], "xref": [ "UMLS:C4024313" ], "is_a": [ "HP:0009495", "HP:0009500", "HP:0010264" ], "is_obsolete": "", "replace_id": "" }, "HP:0009521": { "name": [ "small epiphysis of the middle phalanx of the 2nd finger", "small epiphysis of the middle phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of the innermost long bone of index finger", "small end part of the innermost long bone of index finger" ] ], "xref": [ "UMLS:C4024312" ], "is_a": [ "HP:0009496", "HP:0009500", "HP:0010265" ], "is_obsolete": "", "replace_id": "" }, "HP:0009522": { "name": [ "stippling of the epiphysis of the middle phalanx of the 2nd finger", "stippling of the epiphysis of the middle phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "speckled calcifications in end part of the middle bone of the index finger", "speckled calcification in end part of the middle bone of the index finger" ] ], "xref": [ "UMLS:C4024311" ], "is_a": [ "HP:0009497", "HP:0009500", "HP:0010266" ], "is_obsolete": "", "replace_id": "" }, "HP:0009523": { "name": [ "triangular epiphysis of the middle phalanx of the 2nd finger", "triangular epiphysis of the middle phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the middle bone of the index finger", "triangular end part of the middle bone of the index finger" ] ], "xref": [ "UMLS:C4024310" ], "is_a": [ "HP:0009498", "HP:0009500", "HP:0010267" ], "is_obsolete": "", "replace_id": "" }, "HP:0009524": { "name": [ "absent epiphysis of the proximal phalanx of the 2nd finger", "absent epiphysis of the proximal phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "absent end part of innermost long bone of index finger", "absent end part of innermost long bone of index finger" ] ], "xref": [ "UMLS:C4024309" ], "is_a": [ "HP:0009488", "HP:0009501", "HP:0010268" ], "is_obsolete": "", "replace_id": "" }, "HP:0009525": { "name": [ "bracket epiphysis of the proximal phalanx of the 2nd finger", "bracket epiphysis of the proximal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004120" ], "def": "An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket epiphyses of proximal index finger phalanx", "bracket epiphysis of proximal index finger phalanx" ], [ "bracket shaped end part of innermost long bone of index finger", "bracket shape end part of innermost long bone of index finger" ] ], "xref": [ "UMLS:C4021457" ], "is_a": [ "HP:0009489", "HP:0009501", "HP:0010269" ], "is_obsolete": "", "replace_id": "" }, "HP:0009526": { "name": [ "cone - shaped epiphysis of the proximal phalanx of the 2nd finger", "cone - shaped epiphysis of the proximal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004128" ], "def": "", "synonym": [ [ "cone - shaped end part of innermost long bone of index finger", "cone - shaped end part of innermost long bone of index finger" ], [ "cone - shaped epiphysis of proximal index finger phalanx", "cone - shaped epiphysis of proximal index finger phalanx" ] ], "xref": [ "UMLS:C4021456" ], "is_a": [ "HP:0009490", "HP:0009501", "HP:0010270" ], "is_obsolete": "", "replace_id": "" }, "HP:0009527": { "name": [ "enlarged epiphysis of the proximal phalanx of the 2nd finger", "enlarged epiphysis of the proximal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004129" ], "def": "", "synonym": [ [ "enlarged end part of innermost long bone of index finger", "enlarged end part of innermost long bone of index finger" ], [ "large epiphysis of proximal index finger phalanx", "large epiphysis of proximal index finger phalanx" ] ], "xref": [ "UMLS:C4021455" ], "is_a": [ "HP:0009491", "HP:0009501", "HP:0010271" ], "is_obsolete": "", "replace_id": "" }, "HP:0009528": { "name": [ "fragmentation of the epiphysis of the proximal phalanx of the 2nd finger", "fragmentation of the epiphysis of the proximal phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "fragmentation of end part of innermost long bone of index finger", "fragmentation of end part of innermost long bone of index finger" ] ], "xref": [ "UMLS:C4024308" ], "is_a": [ "HP:0009492", "HP:0009501", "HP:0010272" ], "is_obsolete": "", "replace_id": "" }, "HP:0009529": { "name": [ "irregular epiphysis of the proximal phalanx of the 2nd finger", "irregular epiphysis of the proximal phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of innermost long bone of index finger", "irregular end part of innermost long bone of index finger" ] ], "xref": [ "UMLS:C4024307" ], "is_a": [ "HP:0009493", "HP:0009501", "HP:0010273" ], "is_obsolete": "", "replace_id": "" }, "HP:0009530": { "name": [ "ivory epiphysis of the proximal phalanx of the 2nd finger", "ivory epiphysis of the proximal phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density of end part of the innermost bone of the index finger", "increase bone density of end part of the innermost bone of the index finger" ] ], "xref": [ "UMLS:C4024306" ], "is_a": [ "HP:0009494", "HP:0009501", "HP:0010274" ], "is_obsolete": "", "replace_id": "" }, "HP:0009531": { "name": [ "pseudoepiphysis of the proximal phalanx of the 2nd finger", "pseudoepiphysis of the proximal phalanx of the 2nd finger" ], "alt_id": [], "def": "A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [], "xref": [ "UMLS:C4024305" ], "is_a": [ "HP:0009495", "HP:0009501", "HP:0010275" ], "is_obsolete": "", "replace_id": "" }, "HP:0009532": { "name": [ "small epiphysis of the proximal phalanx of the 2nd finger", "small epiphysis of the proximal phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of proximal long bond of index finger", "small end part of proximal long bond of index finger" ] ], "xref": [ "UMLS:C4024304" ], "is_a": [ "HP:0009496", "HP:0009501", "HP:0010276" ], "is_obsolete": "", "replace_id": "" }, "HP:0009533": { "name": [ "stippling of the epiphysis of the proximal phalanx of the 2nd finger", "stippling of the epiphysis of the proximal phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "speckled calcifications in end part of the innermost long bone of index finger", "speckled calcification in end part of the innermost long bone of index finger" ] ], "xref": [ "UMLS:C4024303" ], "is_a": [ "HP:0009497", "HP:0009501", "HP:0010277" ], "is_obsolete": "", "replace_id": "" }, "HP:0009534": { "name": [ "triangular epiphysis of the proximal phalanx of the 2nd finger", "triangular epiphysis of the proximal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004130" ], "def": "", "synonym": [ [ "triangular end part of innermost long bone of index finger", "triangular end part of innermost long bone of index finger" ], [ "triangular epiphysis of proximal index finger phalanx", "triangular epiphysis of proximal index finger phalanx" ] ], "xref": [ "UMLS:C4021454" ], "is_a": [ "HP:0009498", "HP:0009501", "HP:0010278" ], "is_obsolete": "", "replace_id": "" }, "HP:0009535": { "name": [ "aplasia of the 2nd finger", "aplasia of the 2nd finger" ], "alt_id": [ "HP:0004106" ], "def": "Absent 2nd (index) finger.", "synonym": [ [ "absent index finger", "absent index finger" ], [ "absent index finger phalanges", "absent index finger phalanx" ], [ "aplasia of the index finger", "aplasia of the index finger" ] ], "xref": [ "UMLS:C4021453" ], "is_a": [ "HP:0006264", "HP:0009380" ], "is_obsolete": "", "replace_id": "" }, "HP:0009536": { "name": [ "short 2nd finger", "short 2nd finger" ], "alt_id": [ "HP:0004104", "HP:0004113", "HP:0004115", "HP:0005796" ], "def": "Hypoplasia of the second finger, also known as the index finger.", "synonym": [ [ "hypoplastic index finger phalanges", "hypoplastic index finger phalanx" ], [ "hypoplastic / small index finger", "hypoplastic / small index finger" ], [ "short index finger", "short index finger" ], [ "short index finger phalanges", "short index finger phalanx" ], [ "short index fingers", "short index finger" ] ], "xref": [ "UMLS:C1862142" ], "is_a": [ "HP:0006264", "HP:0009381" ], "is_obsolete": "", "replace_id": "" }, "HP:0009537": { "name": [ "flexion contracture of the 2nd finger", "flexion contracture of the 2nd finger" ], "alt_id": [], "def": "Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected.", "synonym": [ [ "joint contractures of the 2nd finger", "joint contracture of the 2nd finger" ] ], "xref": [ "UMLS:C4021452" ], "is_a": [ "HP:0004100", "HP:0012785" ], "is_obsolete": "", "replace_id": "" }, "HP:0009538": { "name": [ "contracture of the distal interphalangeal joint of the 2nd finger", "contracture of the distal interphalangeal joint of the 2nd finger" ], "alt_id": [], "def": "Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.", "synonym": [], "xref": [ "UMLS:C4024302" ], "is_a": [ "HP:0009537", "HP:0009697" ], "is_obsolete": "", "replace_id": "" }, "HP:0009539": { "name": [ "contracture of the metacarpophalangeal joint of the 2nd finger", "contracture of the metacarpophalangeal joint of the 2nd finger" ], "alt_id": [], "def": "Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue.", "synonym": [], "xref": [ "UMLS:C4024301" ], "is_a": [ "HP:0009537" ], "is_obsolete": "", "replace_id": "" }, "HP:0009540": { "name": [ "contracture of the proximal interphalangeal joint of the 2nd finger", "contracture of the proximal interphalangeal joint of the 2nd finger" ], "alt_id": [], "def": "Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.", "synonym": [ [ "camptodactyly of 2nd finger", "camptodactyly of 2nd finger" ], [ "camptodactyly of index finger", "camptodactyly of index finger" ], [ "camptodactyly of second finger", "camptodactyly of second finger" ] ], "xref": [ "UMLS:C4021451" ], "is_a": [ "HP:0009537", "HP:0100490" ], "is_obsolete": "", "replace_id": "" }, "HP:0009541": { "name": [ "abnormality of the phalanges of the 2nd finger", "abnormality of the phalanx of the 2nd finger" ], "alt_id": [ "HP:0004105" ], "def": "Abnormality of the phalanges of the 2nd (index) finger.", "synonym": [ [ "abnormal index finger bones", "abnormal index finger bone" ], [ "abnormality of 2nd finger phalanges", "abnormality of 2nd finger phalanx" ] ], "xref": [ "UMLS:C4021450" ], "is_a": [ "HP:0004100", "HP:0009774" ], "is_obsolete": "", "replace_id": "" }, "HP:0009542": { "name": [ "abnormality of the distal phalanx of the 2nd finger", "abnormality of the distal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004111", "HP:0004140" ], "def": "", "synonym": [ [ "abnormality of terminal index finger phalanx", "abnormality of terminal index finger phalanx" ], [ "abnormality of the outermost bone of the 2nd finger", "abnormality of the outermost bone of the 2nd finger" ] ], "xref": [ "UMLS:C4021449" ], "is_a": [ "HP:0009541" ], "is_obsolete": "", "replace_id": "" }, "HP:0009543": { "name": [ "abnormality of the middle phalanx of the 2nd finger", "abnormality of the middle phalanx of the 2nd finger" ], "alt_id": [ "HP:0004131" ], "def": "", "synonym": [ [ "abnormal middle index finger bone", "abnormal middle index finger bone" ], [ "abnormality of middle 2nd finger phalanx", "abnormality of middle 2nd finger phalanx" ] ], "xref": [ "UMLS:C4021448" ], "is_a": [ "HP:0009541" ], "is_obsolete": "", "replace_id": "" }, "HP:0009544": { "name": [ "abnormality of the proximal phalanx of the 2nd finger", "abnormality of the proximal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004119" ], "def": "", "synonym": [ [ "abnormal innermost index finger bone", "abnormal innermost index finger bone" ], [ "abnormality of the proximal 2nd finger phalanx", "abnormality of the proximal 2nd finger phalanx" ] ], "xref": [ "UMLS:C4021447" ], "is_a": [ "HP:0009541" ], "is_obsolete": "", "replace_id": "" }, "HP:0009545": { "name": [ "symphalangism of the 2nd finger", "symphalangism of the 2nd finger" ], "alt_id": [ "HP:0004116" ], "def": "", "synonym": [ [ "fused index finger bones", "fuse index finger bone" ], [ "symphalangism of index finger phalanges", "symphalangism of index finger phalanx" ] ], "xref": [ "UMLS:C4021446" ], "is_a": [ "HP:0009541", "HP:0009700", "HP:0009773" ], "is_obsolete": "", "replace_id": "" }, "HP:0009546": { "name": [ "triangular shaped phalanges of the 2nd finger", "triangular shape phalanx of the 2nd finger" ], "alt_id": [ "HP:0004117" ], "def": "Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.", "synonym": [ [ "triangular bones of index finger", "triangular bone of index finger" ], [ "triangular index finger phalanges", "triangular index finger phalanx" ] ], "xref": [ "UMLS:C4021445" ], "is_a": [ "HP:0009541" ], "is_obsolete": "", "replace_id": "" }, "HP:0009547": { "name": [ "broad phalanges of the 2nd finger", "broad phalanx of the 2nd finger" ], "alt_id": [ "HP:0004118" ], "def": "", "synonym": [ [ "wide index finger bones", "wide index finger bone" ], [ "wide / broad index finger phalanges", "wide / broad index finger phalanx" ] ], "xref": [ "UMLS:C4021444" ], "is_a": [ "HP:0009541", "HP:0009768" ], "is_obsolete": "", "replace_id": "" }, "HP:0009548": { "name": [ "bullet - shaped phalanges of the 2nd finger", "bullet - shaped phalanx of the 2nd finger" ], "alt_id": [], "def": "A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped index finger bones", "bullet - shaped index finger bone" ] ], "xref": [ "UMLS:C4024300" ], "is_a": [ "HP:0009769" ], "is_obsolete": "", "replace_id": "" }, "HP:0009549": { "name": [ "curved phalanges of the 2nd finger", "curve phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "curved index finger bones", "curve index finger bone" ] ], "xref": [ "UMLS:C4024299" ], "is_a": [ "HP:0004095", "HP:0009541", "HP:0009770" ], "is_obsolete": "", "replace_id": "" }, "HP:0009550": { "name": [ "osteolytic defects of the phalanges of the 2nd finger", "osteolytic defect of the phalanx of the 2nd finger" ], "alt_id": [ "HP:0004114" ], "def": "", "synonym": [ [ "lytic defect in index finger phalanges", "lytic defect in index finger phalanx" ] ], "xref": [ "UMLS:C4021443" ], "is_a": [ "HP:0009541", "HP:0009771" ], "is_obsolete": "", "replace_id": "" }, "HP:0009551": { "name": [ "patchy sclerosis of 2nd finger phalanx", "patchy sclerosis of 2nd finger phalanx" ], "alt_id": [], "def": "Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger.", "synonym": [ [ "patchy sclerosis of the phalanges of the 2nd finger", "patchy sclerosis of the phalanx of the 2nd finger" ], [ "uneven increase in bone density in index finger bone", "uneven increase in bone density in index finger bone" ] ], "xref": [ "UMLS:C4021442" ], "is_a": [ "HP:0009772", "HP:0100918" ], "is_obsolete": "", "replace_id": "" }, "HP:0009552": { "name": [ "aplasia / hypoplasia of the phalanges of the 2nd finger", "aplasia / hypoplasia of the phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small index finger bone", "absent / small index finger bone" ], [ "absent / underdeveloped index finger bone", "absent / underdevelop index finger bone" ] ], "xref": [ "UMLS:C4024298" ], "is_a": [ "HP:0009541", "HP:0009767" ], "is_obsolete": "", "replace_id": "" }, "HP:0009553": { "name": [ "abnormality of the hairline", "abnormality of the hairline" ], "alt_id": [], "def": "The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.", "synonym": [ [ "abnormality of the hairline", "abnormality of the hairline" ] ], "xref": [ "UMLS:C4024297" ], "is_a": [ "HP:0011361", "HP:0100037" ], "is_obsolete": "", "replace_id": "" }, "HP:0009554": { "name": [ "preauricular hair displacement", "preauricular hair displacement" ], "alt_id": [], "def": "An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.", "synonym": [ [ "hair displacement , preauricular , towards lateral cheekbone", "hair displacement , preauricular , towards lateral cheekbone" ], [ "hair growing down to cheek", "hair grow down to cheek" ], [ "projection of scalp hair onto lateral cheek", "projection of scalp hair onto lateral cheek" ] ], "xref": [ "UMLS:C4024296" ], "is_a": [ "HP:0009553" ], "is_obsolete": "", "replace_id": "" }, "HP:0009555": { "name": [ "hypoplasia of the pharynx", "hypoplasia of the pharynx" ], "alt_id": [], "def": "Underdevelopment of the pharynx.", "synonym": [ [ "decreased diameter of pharynx", "decrease diameter of pharynx" ], [ "decreased length of pharynx", "decreased length of pharynx" ], [ "decreased size of pharynx", "decreased size of pharynx" ], [ "decreased volume of pharynx", "decreased volume of pharynx" ], [ "decreased width of pharynx", "decrease width of pharynx" ], [ "hypotrophic pharynx", "hypotrophic pharynx" ], [ "small pharynx", "small pharynx" ], [ "underdevelopment of pharynx", "underdevelopment of pharynx" ] ], "xref": [ "UMLS:C4024295", "UMLS:C4280396", "UMLS:C4280397", "UMLS:C4280398", "UMLS:C4280399", "UMLS:C4280400" ], "is_a": [ "HP:0033151" ], "is_obsolete": "", "replace_id": "" }, "HP:0009556": { "name": [ "absent tibia", "absent tibia" ], "alt_id": [], "def": "Absence of the tibia.", "synonym": [ [ "absent shankbone", "absent shankbone" ], [ "absent shinbone", "absent shinbone" ], [ "aplasia of the tibia", "aplasia of the tibia" ] ], "xref": [ "UMLS:C3276744" ], "is_a": [ "HP:0005772", "HP:0009817" ], "is_obsolete": "", "replace_id": "" }, "HP:0009557": { "name": [ "aplasia / hypoplasia of the distal phalanx of the 2nd finger", "aplasia / hypoplasia of the distal phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small outermost index finger bone", "absent / small outermost index finger bone" ], [ "absent / underdeveloped outermost index finger bone", "absent / underdevelop outermost index finger bone" ] ], "xref": [ "UMLS:C4024294" ], "is_a": [ "HP:0009542", "HP:0009552" ], "is_obsolete": "", "replace_id": "" }, "HP:0009558": { "name": [ "broad distal phalanx of the 2nd finger", "broad distal phalanx of the 2nd finger" ], "alt_id": [], "def": "Increased width of the distal phalanx of the 2nd finger.", "synonym": [ [ "wide outermost bone of the index finger", "wide outermost bone of the index finger" ] ], "xref": [ "UMLS:C4024293" ], "is_a": [ "HP:0009542", "HP:0009547", "HP:0009836" ], "is_obsolete": "", "replace_id": "" }, "HP:0009559": { "name": [ "bullet - shaped distal phalanx of the 2nd finger", "bullet - shaped distal phalanx of the 2nd finger" ], "alt_id": [], "def": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected.", "synonym": [ [ "bullet - shaped outermost bone of the index finger", "bullet - shape outermost bone of the index finger" ] ], "xref": [ "UMLS:C4024292" ], "is_a": [ "HP:0009542", "HP:0009548", "HP:0009837" ], "is_obsolete": "", "replace_id": "" }, "HP:0009560": { "name": [ "curved distal phalanx of the 2nd finger", "curve distal phalanx of the 2nd finger" ], "alt_id": [], "def": "Curved appearance of the distal phalanx of the 2nd finger.", "synonym": [ [ "curved outermost bone of the index finger", "curve outermost bone of the index finger" ] ], "xref": [ "UMLS:C4024291" ], "is_a": [ "HP:0009542", "HP:0009549", "HP:0009838" ], "is_obsolete": "", "replace_id": "" }, "HP:0009561": { "name": [ "osteolytic defects of the distal phalanx of the 2nd finger", "osteolytic defect of the distal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004108", "HP:0004142" ], "def": "Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger.", "synonym": [ [ "acro - osteolysis of index finger", "acro - osteolysis of index finger" ], [ "acro - osteolysis of terminal index finger phalanx", "acro - osteolysis of terminal index finger phalanx" ], [ "osteolytic defects of the outermost bone of the 2nd finger", "osteolytic defect of the outermost bone of the 2nd finger" ] ], "xref": [ "UMLS:C4021441" ], "is_a": [ "HP:0009542", "HP:0009550", "HP:0009839" ], "is_obsolete": "", "replace_id": "" }, "HP:0009562": { "name": [ "patchy sclerosis of the distal phalanx of the 2nd finger", "patchy sclerosis of the distal phalanx of the 2nd finger" ], "alt_id": [], "def": "Uneven (irregular) increase in bone density of the distal phalanx of the second finger.", "synonym": [ [ "uneven increase in bone density in the outermost bone of the 2nd finger", "uneven increase in bone density in the outermost bone of the 2nd finger" ] ], "xref": [ "UMLS:C4024290" ], "is_a": [ "HP:0009542", "HP:0009551", "HP:0009840", "HP:0100900" ], "is_obsolete": "", "replace_id": "" }, "HP:0009563": { "name": [ "distal / middle symphalangism of 2nd finger", "distal / middle symphalangism of 2nd finger" ], "alt_id": [ "HP:0009567", "HP:0009578" ], "def": "Fusion of the terminal/distal and middle phalanges of the 2nd finger.", "synonym": [ [ "fused outermost and middle index finger bones", "fuse outermost and middle index finger bone" ], [ "symphalangism of the distal and middle phalanges of the 2nd finger", "symphalangism of the distal and middle phalanx of the 2nd finger" ] ], "xref": [ "UMLS:C4021440" ], "is_a": [ "HP:0001204", "HP:0009542", "HP:0009574" ], "is_obsolete": "", "replace_id": "" }, "HP:0009564": { "name": [ "triangular shaped distal phalanx of the 2nd finger", "triangular shape distal phalanx of the 2nd finger" ], "alt_id": [], "def": "Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.", "synonym": [ [ "triangular shaped outermost bone of the 2nd finger", "triangular shape outermost bone of the 2nd finger" ] ], "xref": [ "UMLS:C4024289" ], "is_a": [ "HP:0009542", "HP:0009546", "HP:0009875" ], "is_obsolete": "", "replace_id": "" }, "HP:0009565": { "name": [ "aplasia of the distal phalanx of the 2nd finger", "aplasia of the distal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004141", "HP:0005748" ], "def": "", "synonym": [ [ "absent outermost index finger bone", "absent outermost index finger bone" ], [ "absent terminal index finger phalanx", "absent terminal index finger phalanx" ] ], "xref": [ "UMLS:C4021439" ], "is_a": [ "HP:0009535", "HP:0009557", "HP:0009881" ], "is_obsolete": "", "replace_id": "" }, "HP:0009566": { "name": [ "short distal phalanx of the 2nd finger", "short distal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004145" ], "def": "Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger.", "synonym": [ [ "hypoplastic terminal index finger phalanx", "hypoplastic terminal index finger phalanx" ], [ "hypoplastic / small distal phalanx of the 2nd finger", "hypoplastic / small distal phalanx of the 2nd finger" ], [ "short distal phalanx of the second finger", "short distal phalanx of the second finger" ], [ "short outermost bone of the index finger", "short outermost bone of the index finger" ], [ "short terminal index finger phalanx", "short terminal index finger phalanx" ] ], "xref": [ "UMLS:C4021438" ], "is_a": [ "HP:0009536", "HP:0009557", "HP:0009882" ], "is_obsolete": "", "replace_id": "" }, "HP:0009568": { "name": [ "aplasia / hypoplasia of the middle phalanx of the 2nd finger", "aplasia / hypoplasia of the middle phalanx of the 2nd finger" ], "alt_id": [ "HP:0006221" ], "def": "", "synonym": [ [ "absent / hypoplastic middle phalanx of 2nd finger", "absent / hypoplastic middle phalanx of 2nd finger" ], [ "absent / small middle index finger bone", "absent / small middle index finger bone" ], [ "absent / underdeveloped middle index finger bone", "absent / underdevelop middle index finger bone" ], [ "hypoplastic / aplastic middle phalanx of index finger", "hypoplastic / aplastic middle phalanx of index finger" ] ], "xref": [ "UMLS:C1862144" ], "is_a": [ "HP:0009543", "HP:0009552" ], "is_obsolete": "", "replace_id": "" }, "HP:0009569": { "name": [ "broad middle phalanx of the 2nd finger", "broad middle phalanx of the 2nd finger" ], "alt_id": [], "def": "Increased width of the middle phalanx of the second finger.", "synonym": [ [ "broad middle bone of the index finger", "broad middle bone of the index finger" ] ], "xref": [ "UMLS:C4024288" ], "is_a": [ "HP:0009543", "HP:0009547", "HP:0009844" ], "is_obsolete": "", "replace_id": "" }, "HP:0009570": { "name": [ "bullet - shaped middle phalanx of the 2nd finger", "bullet - shape middle phalanx of the 2nd finger" ], "alt_id": [], "def": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected.", "synonym": [ [ "bullet - shaped middle bone of index finger", "bullet - shape middle bone of index finger" ] ], "xref": [ "UMLS:C4024287" ], "is_a": [ "HP:0009543", "HP:0009548", "HP:0009845" ], "is_obsolete": "", "replace_id": "" }, "HP:0009571": { "name": [ "curved middle phalanx of the 2nd finger", "curve middle phalanx of the 2nd finger" ], "alt_id": [], "def": "Curved appearance of the middle phalanx of the 2nd finger.", "synonym": [ [ "curved middle bone of the index finger", "curve middle bone of the index finger" ] ], "xref": [ "UMLS:C4024286" ], "is_a": [ "HP:0009543", "HP:0009549", "HP:0009846" ], "is_obsolete": "", "replace_id": "" }, "HP:0009572": { "name": [ "osteolytic defects of the middle phalanx of the 2nd finger", "osteolytic defect of the middle phalanx of the 2nd finger" ], "alt_id": [ "HP:0004134" ], "def": "Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger.", "synonym": [ [ "lytic defects of middle index finger phalanx", "lytic defect of middle index finger phalanx" ] ], "xref": [ "UMLS:C4021437" ], "is_a": [ "HP:0009543", "HP:0009550", "HP:0009847" ], "is_obsolete": "", "replace_id": "" }, "HP:0009573": { "name": [ "patchy sclerosis of the middle phalanx of the 2nd finger", "patchy sclerosis of the middle phalanx of the 2nd finger" ], "alt_id": [], "def": "Uneven (irregular) increase in bone density of the middle phalanx of the second finger.", "synonym": [ [ "uneven increase in bone density in the middle bone of the index finger", "uneven increase in bone density in the middle bone of the index finger" ] ], "xref": [ "UMLS:C4024285" ], "is_a": [ "HP:0009543", "HP:0009551", "HP:0009848", "HP:0100904" ], "is_obsolete": "", "replace_id": "" }, "HP:0009574": { "name": [ "symphalangism of middle phalanx of 2nd finger", "symphalangism of middle phalanx of 2nd finger" ], "alt_id": [], "def": "Fusion of the middle phalanx of the 2nd finger with another bone.", "synonym": [ [ "fused middle bone of index finger", "fuse middle bone of index finger" ] ], "xref": [ "UMLS:C4024284" ], "is_a": [ "HP:0009543", "HP:0009545", "HP:0009849" ], "is_obsolete": "", "replace_id": "" }, "HP:0009575": { "name": [ "triangular shaped middle phalanx of the 2nd finger", "triangular shape middle phalanx of the 2nd finger" ], "alt_id": [], "def": "Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.", "synonym": [ [ "triangular shaped middle bone of index finger", "triangular shape middle bone of index finger" ] ], "xref": [ "UMLS:C4024283" ], "is_a": [ "HP:0009543", "HP:0009546", "HP:0009850" ], "is_obsolete": "", "replace_id": "" }, "HP:0009576": { "name": [ "absent middle phalanx of 2nd finger", "absent middle phalanx of 2nd finger" ], "alt_id": [ "HP:0005760" ], "def": "Absence of the middle phalanx of the index (2nd) finger.", "synonym": [ [ "absent middle bone of index finger", "absent middle bone of index finger" ], [ "absent middle phalanx of index finger", "absent middle phalanx of index finger" ], [ "aplasia of the middle phalanx of the 2nd finger", "aplasia of the middle phalanx of the 2nd finger" ] ], "xref": [ "UMLS:C4021436" ], "is_a": [ "HP:0009535", "HP:0009568", "HP:0010239" ], "is_obsolete": "", "replace_id": "" }, "HP:0009577": { "name": [ "short middle phalanx of the 2nd finger", "short middle phalanx of the 2nd finger" ], "alt_id": [ "HP:0004133" ], "def": "Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.", "synonym": [ [ "brachymesophalangy ii ( finger )", "brachymesophalangy ii ( finger )" ], [ "hypoplastic middle index finger phalanx", "hypoplastic middle index finger phalanx" ], [ "hypoplastic / small middle phalanx of the 2nd finger", "hypoplastic / small middle phalanx of the 2nd finger" ], [ "short middle bone of index finger", "short middle bone of index finger" ] ], "xref": [ "UMLS:C4021435" ], "is_a": [ "HP:0005819", "HP:0009536", "HP:0009568" ], "is_obsolete": "", "replace_id": "" }, "HP:0009579": { "name": [ "proximal / middle symphalangism of the 2nd finger", "proximal / middle symphalangism of the 2nd finger" ], "alt_id": [], "def": "Fusion of the proximal and middle phalanges of the 2nd finger.", "synonym": [ [ "fused innermost and middle index finger bones", "fuse innermost and middle index finger bone" ] ], "xref": [ "UMLS:C4024282" ], "is_a": [ "HP:0006152", "HP:0009574", "HP:0009586" ], "is_obsolete": "", "replace_id": "" }, "HP:0009580": { "name": [ "aplasia / hypoplasia of the proximal phalanx of the 2nd finger", "aplasia / hypoplasia of the proximal phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small innermost index finger bone", "absent / small innermost index finger bone" ], [ "absent / underdeveloped innermost index finger bone", "absent / underdevelop innermost index finger bone" ] ], "xref": [ "UMLS:C4024281" ], "is_a": [ "HP:0009544", "HP:0009552" ], "is_obsolete": "", "replace_id": "" }, "HP:0009581": { "name": [ "broad proximal phalanx of the 2nd finger", "broad proximal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004126" ], "def": "Increased width of the proximal phalanx of the 2nd finger.", "synonym": [ [ "wide innermost bone of index finger", "wide innermost bone of index finger" ], [ "wide / broad proximal index finger phalanx", "wide / broad proximal index finger phalanx" ] ], "xref": [ "UMLS:C4021434" ], "is_a": [ "HP:0009544", "HP:0009547", "HP:0009852" ], "is_obsolete": "", "replace_id": "" }, "HP:0009582": { "name": [ "bullet - shaped proximal phalanx of the 2nd finger", "bullet - shape proximal phalanx of the 2nd finger" ], "alt_id": [], "def": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected.", "synonym": [ [ "bullet - shaped innermost bone of index finger", "bullet - shape innermost bone of index finger" ] ], "xref": [ "UMLS:C4024280" ], "is_a": [ "HP:0009544", "HP:0009548", "HP:0009853" ], "is_obsolete": "", "replace_id": "" }, "HP:0009583": { "name": [ "curved proximal phalanx of the 2nd finger", "curve proximal phalanx of the 2nd finger" ], "alt_id": [], "def": "Curved appearance of the proximal phalanx of the 2nd finger.", "synonym": [ [ "curved innermost bone of index finger", "curve innermost bone of index finger" ] ], "xref": [ "UMLS:C4024279" ], "is_a": [ "HP:0009544", "HP:0009549", "HP:0009854" ], "is_obsolete": "", "replace_id": "" }, "HP:0009584": { "name": [ "osteolytic defects of the proximal phalanx of the 2nd finger", "osteolytic defect of the proximal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004123" ], "def": "Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger.", "synonym": [ [ "lytic defects of proximal index finger phalanx", "lytic defect of proximal index finger phalanx" ] ], "xref": [ "UMLS:C4021433" ], "is_a": [ "HP:0009544", "HP:0009550", "HP:0009855" ], "is_obsolete": "", "replace_id": "" }, "HP:0009585": { "name": [ "patchy sclerosis of the proximal phalanx of the 2nd finger", "patchy sclerosis of the proximal phalanx of the 2nd finger" ], "alt_id": [], "def": "Uneven (irregular) increase in bone density of the proximal phalanx of the second finger.", "synonym": [ [ "uneven increase in bone density in innermost index finger bone", "uneven increase in bone density in innermost index finger bone" ] ], "xref": [ "UMLS:C4024278" ], "is_a": [ "HP:0009544", "HP:0009551", "HP:0009856", "HP:0100908" ], "is_obsolete": "", "replace_id": "" }, "HP:0009586": { "name": [ "symphalangism affecting the proximal phalanx of the 2nd finger", "symphalangism affect the proximal phalanx of the 2nd finger" ], "alt_id": [], "def": "Fusion of the proximal phalanx of the 2nd finger with another bone.", "synonym": [ [ "fused innermost bone of index finger", "fuse innermost bone of index finger" ] ], "xref": [ "UMLS:C4024277" ], "is_a": [ "HP:0009544", "HP:0009545", "HP:0009857" ], "is_obsolete": "", "replace_id": "" }, "HP:0009587": { "name": [ "triangular shaped proximal phalanx of the 2nd finger", "triangular shape proximal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004125" ], "def": "Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.", "synonym": [ [ "triangular proximal index finger phalanx", "triangular proximal index finger phalanx" ], [ "triangular shaped innermost bone of index finger", "triangular shape innermost bone of index finger" ] ], "xref": [ "UMLS:C4021432" ], "is_a": [ "HP:0009544", "HP:0009546", "HP:0009858" ], "is_obsolete": "", "replace_id": "" }, "HP:0009588": { "name": [ "vestibular schwannoma", "vestibular schwannoma" ], "alt_id": [], "def": "A vestibular Schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear.", "synonym": [ [ "acoustic neuroma", "acoustic neuroma" ], [ "vestibular neurilemmoma", "vestibular neurilemmoma" ], [ "vestibular neurinoma", "vestibular neurinoma" ], [ "vestibular neurolemmoma", "vestibular neurolemmoma" ], [ "vestibular schwann cell tumor", "vestibular schwann cell tumor" ], [ "vestibular schwann cell tumour", "vestibular schwann cell tumour" ] ], "xref": [ "MSH:D009464", "NCIT:C3269", "SNOMEDCT_US:126949007", "SNOMEDCT_US:985004", "UMLS:C0027859" ], "is_a": [ "HP:0009591", "HP:0040096", "HP:0100008" ], "is_obsolete": "", "replace_id": "" }, "HP:0009589": { "name": [ "bilateral vestibular schwannoma", "bilateral vestibular schwannoma" ], "alt_id": [], "def": "A bilateral vestibular Schwannoma (acoustic neurinoma).", "synonym": [ [ "bilateral acoustic neuromas", "bilateral acoustic neuroma" ] ], "xref": [ "MSH:D016518", "UMLS:C1136042" ], "is_a": [ "HP:0009588" ], "is_obsolete": "", "replace_id": "" }, "HP:0009590": { "name": [ "unilateral vestibular schwannoma", "unilateral vestibular schwannoma" ], "alt_id": [], "def": "A unilateral vestibular Schwannoma (acoustic neurinoma).", "synonym": [], "xref": [ "UMLS:C1863653" ], "is_a": [ "HP:0009588" ], "is_obsolete": "", "replace_id": "" }, "HP:0009591": { "name": [ "abnormality of the vestibulocochlear nerve", "abnormality of the vestibulocochlear nerve" ], "alt_id": [], "def": "Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain.", "synonym": [ [ "abnormality of the eighth cranial nerve", "abnormality of the eighth cranial nerve" ], [ "abnormality of the viiith cranial nerve", "abnormality of the viiith cranial nerve" ] ], "xref": [ "UMLS:C4021431" ], "is_a": [ "HP:0001291" ], "is_obsolete": "", "replace_id": "" }, "HP:0009592": { "name": [ "astrocytoma", "astrocytoma" ], "alt_id": [], "def": "Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.", "synonym": [], "xref": [ "MSH:D001254", "SNOMEDCT_US:38713004", "UMLS:C0004114" ], "is_a": [ "HP:0009733", "HP:0100707" ], "is_obsolete": "", "replace_id": "" }, "HP:0009593": { "name": [ "peripheral schwannoma", "peripheral schwannoma" ], "alt_id": [], "def": "The presence of a peripheral schwannoma.", "synonym": [], "xref": [ "UMLS:C4024276" ], "is_a": [ "HP:0008069", "HP:0100008" ], "is_obsolete": "", "replace_id": "" }, "HP:0009594": { "name": [ "retinal hamartoma", "retinal hamartoma" ], "alt_id": [], "def": "A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.", "synonym": [], "xref": [ "UMLS:C1863411" ], "is_a": [ "HP:0000479", "HP:0010568" ], "is_obsolete": "", "replace_id": "" }, "HP:0009595": { "name": [ "occasional neurofibromas", "occasional neurofibroma" ], "alt_id": [], "def": "Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.", "synonym": [], "xref": [ "UMLS:C3810474" ], "is_a": [ "HP:0001067" ], "is_obsolete": "", "replace_id": "" }, "HP:0009596": { "name": [ "aplasia of the proximal phalanx of the 2nd finger", "aplasia of the proximal phalanx of the 2nd finger" ], "alt_id": [], "def": "Absence of the proximal phalanx of the 2nd finger.", "synonym": [ [ "absent innermost bone of index finger", "absent innermost bone of index finger" ] ], "xref": [ "UMLS:C4024275" ], "is_a": [ "HP:0009535", "HP:0009580", "HP:0010242" ], "is_obsolete": "", "replace_id": "" }, "HP:0009597": { "name": [ "short proximal phalanx of the 2nd finger", "short proximal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004124" ], "def": "Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger.", "synonym": [ [ "hypoplastic / small proximal phalanx of the 2nd finger", "hypoplastic / small proximal phalanx of the 2nd finger" ], [ "short proximal index finger phalanx", "short proximal index finger phalanx" ], [ "short proximal phalanx of the second finger", "short proximal phalanx of the second finger" ] ], "xref": [ "UMLS:C4021430" ], "is_a": [ "HP:0009536", "HP:0009580", "HP:0010241" ], "is_obsolete": "", "replace_id": "" }, "HP:0009598": { "name": [ "symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal", "symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal" ], "alt_id": [], "def": "Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal.", "synonym": [ [ "fused innermost bone of index finger with 2nd long bone of hand", "fuse innermost bone of index finger with 2nd long bone of hand" ] ], "xref": [ "UMLS:C4024274" ], "is_a": [ "HP:0005880", "HP:0009586", "HP:0009705" ], "is_obsolete": "", "replace_id": "" }, "HP:0009599": { "name": [ "abnormality of thumb epiphysis", "abnormality of thumb epiphysis" ], "alt_id": [ "HP:0004074" ], "def": "Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.", "synonym": [ [ "abnormality of end part of thumb long bone", "abnormality of end part of thumb long bone" ], [ "abnormality of the epiphyses of the thumb", "abnormality of the epiphysis of the thumb" ], [ "abnormality of thumb epiphyses", "abnormality of thumb epiphysis" ] ], "xref": [ "UMLS:C4021429" ], "is_a": [ "HP:0001172", "HP:0005920" ], "is_obsolete": "", "replace_id": "" }, "HP:0009600": { "name": [ "flexion contracture of thumb", "flexion contracture of thumb" ], "alt_id": [ "HP:0004061", "HP:0006043" ], "def": "Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.", "synonym": [ [ "contracture of thumb", "contracture of thumb" ], [ "flexion deformities of thumbs", "flexion deformity of thumb" ], [ "joint contractures of the thumb", "joint contracture of the thumb" ] ], "xref": [ "SNOMEDCT_US:239736003", "UMLS:C0409346" ], "is_a": [ "HP:0001172", "HP:0012785" ], "is_obsolete": "", "replace_id": "" }, "HP:0009601": { "name": [ "aplasia / hypoplasia of the thumb", "aplasia / hypoplasia of the thumb" ], "alt_id": [ "HP:0002950", "HP:0006225" ], "def": "Hypoplastic/small or absent thumb.", "synonym": [ [ "absent or hypoplastic thumbs", "absent or hypoplastic thumb" ], [ "absent / hypoplastic thumb", "absent / hypoplastic thumb" ], [ "absent / hypoplastic thumbs", "absent / hypoplastic thumb" ], [ "absent / small thumb", "absent / small thumb" ], [ "absent / underdeveloped thumb", "absent / underdevelop thumb" ], [ "aplasia / hypoplasia of thumbs", "aplasia / hypoplasia of thumb" ], [ "aplastic / hypoplastic thumbs", "aplastic / hypoplastic thumb" ], [ "hypoplastic to aplastic thumbs", "hypoplastic to aplastic thumb" ], [ "hypoplastic / absent thumb", "hypoplastic / absent thumb" ], [ "thumb aplasia / hypoplasia", "thumb aplasia / hypoplasia" ] ], "xref": [ "MSH:C536903", "UMLS:C3179508" ], "is_a": [ "HP:0001172", "HP:0006265" ], "is_obsolete": "", "replace_id": "" }, "HP:0009602": { "name": [ "abnormality of thumb phalanx", "abnormality of thumb phalanx" ], "alt_id": [ "HP:0004063", "HP:0004064" ], "def": "A structural anomaly of one or more phalanges of the thumb.", "synonym": [ [ "abnormality of the thumb bones", "abnormality of the thumb bone" ], [ "abnormality of thumb phalanges", "abnormality of thumb phalanx" ] ], "xref": [ "UMLS:C4021428" ], "is_a": [ "HP:0001172", "HP:0009774" ], "is_obsolete": "", "replace_id": "" }, "HP:0009603": { "name": [ "deviation of the thumb", "deviation of the thumb" ], "alt_id": [ "HP:0004062" ], "def": "Displacement of the thumb from its normal position.", "synonym": [ [ "abnormal thumb placement", "abnormal thumb placement" ], [ "deviated thumb", "deviate thumb" ], [ "displacement of the thumb", "displacement of the thumb" ] ], "xref": [ "UMLS:C3552414" ], "is_a": [ "HP:0001172", "HP:0004097" ], "is_obsolete": "", "replace_id": "" }, "HP:0009606": { "name": [ "complete duplication of distal phalanx of the thumb", "complete duplication of distal phalanx of the thumb" ], "alt_id": [ "HP:0004084", "HP:0005784" ], "def": "Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.", "synonym": [ [ "complete duplication of outermost bone of the thumb", "complete duplication of outermost bone of the thumb" ] ], "xref": [ "UMLS:C4021427" ], "is_a": [ "HP:0009612", "HP:0009943", "HP:0010001" ], "is_obsolete": "", "replace_id": "" }, "HP:0009608": { "name": [ "complete duplication of proximal phalanx of the thumb", "complete duplication of proximal phalanx of the thumb" ], "alt_id": [ "HP:0004078" ], "def": "Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.", "synonym": [ [ "complete duplication of the innermost bone of the thumb", "complete duplication of the innermost bone of the thumb" ] ], "xref": [ "UMLS:C4024273" ], "is_a": [ "HP:0009613", "HP:0009943", "HP:0010002" ], "is_obsolete": "", "replace_id": "" }, "HP:0009609": { "name": [ "duplication of the 1st metacarpal", "duplication of the 1st metacarpal" ], "alt_id": [], "def": "Partail or complete duplication of the first metacarpal bone.", "synonym": [ [ "partial / complete duplication of the 1st long bone of hand", "partial / complete duplication of the 1st long bone of hand" ], [ "partial / complete duplication of the 1st metacarpal", "partial / complete duplication of the 1st metacarpal" ] ], "xref": [ "UMLS:C4021426" ], "is_a": [ "HP:0010006", "HP:0010009" ], "is_obsolete": "", "replace_id": "" }, "HP:0009611": { "name": [ "bifid distal phalanx of the thumb", "bifid distal phalanx of the thumb" ], "alt_id": [ "HP:0004086", "HP:0005703", "HP:0005827", "HP:0005848", "HP:0006090" ], "def": "Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones.", "synonym": [ [ "bifid distal phalanx of thumb", "bifid distal phalanx of thumb" ], [ "bifid terminal phalanges of thumbs", "bifid terminal phalanx of thumb" ], [ "bifid thumb distal phalanx", "bifid thumb distal phalanx" ], [ "incipient distal thumb phalanx duplication", "incipient distal thumb phalanx duplication" ], [ "notched outermost bone of the thumb", "notch outermost bone of the thumb" ], [ "notched outermost bone of thumb", "notch outermost bone of thumb" ], [ "notched terminal thumb phalanx", "notched terminal thumb phalanx" ] ], "xref": [ "UMLS:C1860162" ], "is_a": [ "HP:0009612", "HP:0009944", "HP:0010004" ], "is_obsolete": "", "replace_id": "" }, "HP:0009612": { "name": [ "duplication of the distal phalanx of the thumb", "duplication of the distal phalanx of the thumb" ], "alt_id": [], "def": "Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side.", "synonym": [ [ "double thumb distal phalanges", "double thumb distal phalanx" ], [ "duplicated terminal phalanx of thumb", "duplicate terminal phalanx of thumb" ], [ "duplication of distal thumb phalanx", "duplication of distal thumb phalanx" ], [ "duplication of terminal thumb phalanx", "duplication of terminal thumb phalanx" ], [ "duplication of the outermost bone of the thumb", "duplication of the outermost bone of the thumb" ], [ "partial / complete duplication of the distal phalanx of the thumb", "partial / complete duplication of the distal phalanx of the thumb" ] ], "xref": [ "UMLS:C4021425" ], "is_a": [ "HP:0009617", "HP:0009883", "HP:0009942" ], "is_obsolete": "", "replace_id": "" }, "HP:0009613": { "name": [ "duplication of the proximal phalanx of the thumb", "duplication of the proximal phalanx of the thumb" ], "alt_id": [], "def": "Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.", "synonym": [ [ "notched innermost bone of thumb", "notch innermost bone of thumb" ], [ "partial / complete duplication of the proximal phalanx of the thumb", "partial / complete duplication of the proximal phalanx of the thumb" ] ], "xref": [ "UMLS:C4021424" ], "is_a": [ "HP:0009618", "HP:0009942", "HP:0010008" ], "is_obsolete": "", "replace_id": "" }, "HP:0009614": { "name": [ "bifid proximal phalanx of the thumb", "bifid proximal phalanx of the thumb" ], "alt_id": [], "def": "This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.", "synonym": [ [ "notched thumb bone", "notch thumb bone" ] ], "xref": [ "UMLS:C4024272" ], "is_a": [ "HP:0009613", "HP:0009944", "HP:0010005" ], "is_obsolete": "", "replace_id": "" }, "HP:0009615": { "name": [ "complete duplication of the first metacarpal", "complete duplication of the first metacarpal" ], "alt_id": [], "def": "Complete duplication of the first metacarpal bone.", "synonym": [ [ "complete duplication of the first long bone of hand", "complete duplication of the first long bone of hand" ] ], "xref": [ "UMLS:C4024271" ], "is_a": [ "HP:0009609", "HP:0010000" ], "is_obsolete": "", "replace_id": "" }, "HP:0009616": { "name": [ "bifid first metacarpal", "bifid first metacarpal" ], "alt_id": [], "def": "Partial duplication of the first metacarpal bone.", "synonym": [ [ "notched first long bone of hand", "notch first long bone of hand" ], [ "partial duplication of the first metacarpal", "partial duplication of the first metacarpal" ] ], "xref": [ "UMLS:C4021423" ], "is_a": [ "HP:0009609", "HP:0010003" ], "is_obsolete": "", "replace_id": "" }, "HP:0009617": { "name": [ "abnormality of the distal phalanx of the thumb", "abnormality of the distal phalanx of the thumb" ], "alt_id": [ "HP:0004081" ], "def": "Any anomaly of the distal phalanx of thumb.", "synonym": [ [ "abnormality of terminal thumb phalanx", "abnormality of terminal thumb phalanx" ], [ "abnormality of the outermost bone of the thumb", "abnormality of the outermost bone of the thumb" ] ], "xref": [ "UMLS:C4021422" ], "is_a": [ "HP:0009602" ], "is_obsolete": "", "replace_id": "" }, "HP:0009618": { "name": [ "abnormality of the proximal phalanx of the thumb", "abnormality of the proximal phalanx of the thumb" ], "alt_id": [ "HP:0004076" ], "def": "An anomaly of the shape or form of the proximal phalanx of the thumb.", "synonym": [ [ "abnormal innermost thumb bone", "abnormal innermost thumb bone" ], [ "abnormality of proximal thumb phalanx", "abnormality of proximal thumb phalanx" ] ], "xref": [ "UMLS:C4021421" ], "is_a": [ "HP:0009602" ], "is_obsolete": "", "replace_id": "" }, "HP:0009620": { "name": [ "obsolete radial deviation of the thumb", "obsolete radial deviation of the thumb" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0009621": { "name": [ "obsolete ulnar deviation of the thumb", "obsolete ulnar deviation of the thumb" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0009622": { "name": [ "distally placed thumb", "distally place thumb" ], "alt_id": [ "HP:0005755" ], "def": "Insertion of thumb at a more distal location than normal.", "synonym": [], "xref": [ "UMLS:C4024270" ], "is_a": [ "HP:0009603" ], "is_obsolete": "", "replace_id": "" }, "HP:0009623": { "name": [ "proximal placement of thumb", "proximal placement of thumb" ], "alt_id": [ "HP:0001170", "HP:0005668" ], "def": "Proximal mislocalization of the thumb.", "synonym": [ [ "attachment of thumb close to wrist", "attachment of thumb close to wrist" ], [ "low implantation of the thumb", "low implantation of the thumb" ], [ "low - set thumb", "low - set thumb" ], [ "proximally placed thumbs", "proximally place thumb" ] ], "xref": [ "UMLS:C1865572" ], "is_a": [ "HP:0009603" ], "is_obsolete": "", "replace_id": "" }, "HP:0009624": { "name": [ "contractures of the carpometacarpal joint of the thumb", "contracture of the carpometacarpal joint of the thumb" ], "alt_id": [], "def": "Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint.", "synonym": [], "xref": [ "UMLS:C4024269" ], "is_a": [ "HP:0009600" ], "is_obsolete": "", "replace_id": "" }, "HP:0009625": { "name": [ "contractures of the metacarpophalangeal joint of the thumb", "contracture of the metacarpophalangeal joint of the thumb" ], "alt_id": [], "def": "Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis.", "synonym": [], "xref": [ "UMLS:C2108151" ], "is_a": [ "HP:0009600" ], "is_obsolete": "", "replace_id": "" }, "HP:0009626": { "name": [ "contractures of the interphalangeal joint of the thumb", "contracture of the interphalangeal joint of the thumb" ], "alt_id": [ "HP:0005697" ], "def": "Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis.", "synonym": [ [ "interphalangeal extension contractures of thumbs", "interphalangeal extension contracture of thumb" ] ], "xref": [ "UMLS:C2108146" ], "is_a": [ "HP:0001220", "HP:0009600" ], "is_obsolete": "", "replace_id": "" }, "HP:0009629": { "name": [ "aplasia / hypoplasia of the proximal phalanx of the thumb", "aplasia / hypoplasia of the proximal phalanx of the thumb" ], "alt_id": [], "def": "This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.", "synonym": [ [ "absent / small innermost thumb bone", "absent / small innermost thumb bone" ], [ "absent / underdeveloped innermost thumb bone", "absent / underdevelop innermost thumb bone" ] ], "xref": [ "UMLS:C4024268" ], "is_a": [ "HP:0009618", "HP:0009658" ], "is_obsolete": "", "replace_id": "" }, "HP:0009630": { "name": [ "broad proximal phalanx of the thumb", "broad proximal phalanx of the thumb" ], "alt_id": [], "def": "Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.", "synonym": [ [ "broad innermost thumb bone", "broad innermost thumb bone" ] ], "xref": [ "UMLS:C4024267" ], "is_a": [ "HP:0009618", "HP:0009844", "HP:0009852", "HP:0011304" ], "is_obsolete": "", "replace_id": "" }, "HP:0009631": { "name": [ "bullet - shaped proximal phalanx of the thumb", "bullet - shape proximal phalanx of the thumb" ], "alt_id": [], "def": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected.", "synonym": [ [ "bullet - shaped innermost thumb bone", "bullet - shape innermost thumb bone" ] ], "xref": [ "UMLS:C4024266" ], "is_a": [ "HP:0009618", "HP:0009652", "HP:0009845" ], "is_obsolete": "", "replace_id": "" }, "HP:0009632": { "name": [ "curved proximal phalanx of the thumb", "curve proximal phalanx of the thumb" ], "alt_id": [], "def": "A deviation from the normal straight shape of the proximal phalanx of the thumb.", "synonym": [ [ "curved innermost thumb bone", "curve innermost thumb bone" ] ], "xref": [ "UMLS:C4024265" ], "is_a": [ "HP:0009618", "HP:0009653", "HP:0009846", "HP:0009854" ], "is_obsolete": "", "replace_id": "" }, "HP:0009633": { "name": [ "osteolytic defect of the proximal phalanx of the thumb", "osteolytic defect of the proximal phalanx of the thumb" ], "alt_id": [], "def": "Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb.", "synonym": [ [ "osteolytic defects of the proximal phalanx of the thumb", "osteolytic defect of the proximal phalanx of the thumb" ] ], "xref": [ "UMLS:C4021420" ], "is_a": [ "HP:0009618", "HP:0009654", "HP:0009847" ], "is_obsolete": "", "replace_id": "" }, "HP:0009634": { "name": [ "patchy sclerosis of the proximal phalanx of the thumb", "patchy sclerosis of the proximal phalanx of the thumb" ], "alt_id": [], "def": "An uneven increase in bone density of the proximal phalanx of the thumb.", "synonym": [ [ "uneven increase in bone density in the innermost thumb bone", "uneven increase in bone density in the innermost thumb bone" ] ], "xref": [ "UMLS:C4024264" ], "is_a": [ "HP:0009618", "HP:0009655", "HP:0009848", "HP:0100913" ], "is_obsolete": "", "replace_id": "" }, "HP:0009635": { "name": [ "synostosis of thumb phalanx", "synostosis of thumb phalanx" ], "alt_id": [], "def": "Fusion of a phalanx of the thumb with another bone.", "synonym": [ [ "fusion of thumb bone", "fusion of thumb bone" ] ], "xref": [ "UMLS:C4024263" ], "is_a": [ "HP:0009618", "HP:0009849" ], "is_obsolete": "", "replace_id": "" }, "HP:0009636": { "name": [ "triangular shaped proximal phalanx of the thumb", "triangular shape proximal phalanx of the thumb" ], "alt_id": [ "HP:0004080" ], "def": "Triangular shaped proximal phalanx of the thumb.", "synonym": [ [ "triangular innermost thumb bone", "triangular innermost thumb bone" ], [ "triangular proximal thumb phalanx", "triangular proximal thumb phalanx" ] ], "xref": [ "UMLS:C4021419" ], "is_a": [ "HP:0009618", "HP:0009657", "HP:0009850", "HP:0009858" ], "is_obsolete": "", "replace_id": "" }, "HP:0009637": { "name": [ "absent proximal phalanx of thumb", "absent proximal phalanx of thumb" ], "alt_id": [ "HP:0004077" ], "def": "Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.", "synonym": [ [ "absent innermost thumb bone", "absent innermost thumb bone" ], [ "absent ossification / absent proximal thumb phalanx", "absent ossification / absent proximal thumb phalanx" ], [ "aplasia of the proximal phalanx of the thumb", "aplasia of the proximal phalanx of the thumb" ] ], "xref": [ "UMLS:C4021418" ], "is_a": [ "HP:0009629", "HP:0009659", "HP:0010239" ], "is_obsolete": "", "replace_id": "" }, "HP:0009638": { "name": [ "short proximal phalanx of thumb", "short proximal phalanx of thumb" ], "alt_id": [ "HP:0004079", "HP:0006073" ], "def": "Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.", "synonym": [ [ "hypoplastic / small proximal phalanx of the thumb", "hypoplastic / small proximal phalanx of the thumb" ], [ "short proximal phalanges of thumb", "short proximal phalanx of thumb" ], [ "short proximal thumb bone", "short proximal thumb bone" ], [ "short proximal thumb phalanx", "short proximal thumb phalanx" ] ], "xref": [ "UMLS:C1855091" ], "is_a": [ "HP:0005819", "HP:0009617", "HP:0009629", "HP:0009660" ], "is_obsolete": "", "replace_id": "" }, "HP:0009640": { "name": [ "synostosis of the proximal phalanx of the thumb with the 1st metacarpal", "synostosis of the proximal phalanx of the thumb with the 1st metacarpal" ], "alt_id": [], "def": "Fusion of the proximal phalanx of the thumb with the 1st metacarpal.", "synonym": [ [ "ankylosis of the metacarpophalangeal joint of the thumb", "ankylosis of the metacarpophalangeal joint of the thumb" ], [ "fusion of the innermost bone of the thumb with the 1st long bone of hand", "fusion of the innermost bone of the thumb with the 1st long bone of hand" ] ], "xref": [ "UMLS:C4024262" ], "is_a": [ "HP:0005880", "HP:0006152", "HP:0009635", "HP:0009703" ], "is_obsolete": "", "replace_id": "" }, "HP:0009641": { "name": [ "aplasia / hypoplasia of the distal phalanx of the thumb", "aplasia / hypoplasia of the distal phalanx of the thumb" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small outermost thumb bone", "absent / small outermost thumb bone" ], [ "absent / underdeveloped outermost thumb bone", "absent / underdevelop outermost thumb bone" ] ], "xref": [ "UMLS:C4024261" ], "is_a": [ "HP:0009617" ], "is_obsolete": "", "replace_id": "" }, "HP:0009642": { "name": [ "broad distal phalanx of the thumb", "broad distal phalanx of the thumb" ], "alt_id": [ "HP:0004088", "HP:0006198" ], "def": "Increased width of the distal phalanx of thumb.", "synonym": [ [ "broad outermost bone of the thumb", "broad outermost bone of the thumb" ], [ "broad terminal thumb phalanx", "broad terminal thumb phalanx" ], [ "wide distal phalanx of thumb", "wide distal phalanx of thumb" ], [ "wide outermost bone of thumb", "wide outermost bone of thumb" ] ], "xref": [ "UMLS:C1863402" ], "is_a": [ "HP:0009617", "HP:0009836", "HP:0011304" ], "is_obsolete": "", "replace_id": "" }, "HP:0009643": { "name": [ "bullet - shaped distal phalanx of the thumb", "bullet - shaped distal phalanx of the thumb" ], "alt_id": [], "def": "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected.", "synonym": [ [ "bullet - shaped outermost bone of the thumb", "bullet - shape outermost bone of the thumb" ] ], "xref": [ "UMLS:C4024260" ], "is_a": [ "HP:0009617", "HP:0009652", "HP:0009837" ], "is_obsolete": "", "replace_id": "" }, "HP:0009644": { "name": [ "curved distal phalanx of the thumb", "curve distal phalanx of the thumb" ], "alt_id": [], "def": "A deviation from the normal straight shape of the distal phalanx of the thumb.", "synonym": [ [ "curved outermost bone of the thumb", "curve outermost bone of the thumb" ] ], "xref": [ "UMLS:C4024259" ], "is_a": [ "HP:0009617", "HP:0009653", "HP:0009838" ], "is_obsolete": "", "replace_id": "" }, "HP:0009645": { "name": [ "osteolytic defect of the distal phalanx of the thumb", "osteolytic defect of the distal phalanx of the thumb" ], "alt_id": [], "def": "Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.", "synonym": [ [ "osteolytic defects of the distal phalanx of the thumb", "osteolytic defect of the distal phalanx of the thumb" ], [ "osteolytic defects of the outermost bone of the thumb", "osteolytic defect of the outermost bone of the thumb" ] ], "xref": [ "UMLS:C4021417" ], "is_a": [ "HP:0009617", "HP:0009654", "HP:0009839" ], "is_obsolete": "", "replace_id": "" }, "HP:0009646": { "name": [ "patchy sclerosis of the distal phalanx of the thumb", "patchy sclerosis of the distal phalanx of the thumb" ], "alt_id": [], "def": "An uneven increase in bone density of the distal phalanx of the thumb.", "synonym": [ [ "uneven increase in bone density in the outermost bone of the thumb", "uneven increase in bone density in the outermost bone of the thumb" ] ], "xref": [ "UMLS:C4024258" ], "is_a": [ "HP:0009617", "HP:0009655", "HP:0009840", "HP:0100912" ], "is_obsolete": "", "replace_id": "" }, "HP:0009648": { "name": [ "triangular shaped distal phalanx of the thumb", "triangular shape distal phalanx of the thumb" ], "alt_id": [], "def": "Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.", "synonym": [ [ "triangular shaped outermost bone of the thumb", "triangular shape outermost bone of the thumb" ] ], "xref": [ "UMLS:C4024257" ], "is_a": [ "HP:0009617", "HP:0009657", "HP:0009875" ], "is_obsolete": "", "replace_id": "" }, "HP:0009649": { "name": [ "aplasia of the distal phalanx of the thumb", "aplasia of the distal phalanx of the thumb" ], "alt_id": [ "HP:0004082" ], "def": "Absence of the distal/terminal phalanx of the thumb.", "synonym": [ [ "absence of the outermost bone of the thumb", "absence of the outermost bone of the thumb" ], [ "absent ossification / absent terminal thumb phalanx", "absent ossification / absent terminal thumb phalanx" ], [ "aplasia of the outermost bone of the thumb", "aplasia of the outermost bone of the thumb" ] ], "xref": [ "UMLS:C4021416" ], "is_a": [ "HP:0009641", "HP:0009659", "HP:0009881" ], "is_obsolete": "", "replace_id": "" }, "HP:0009650": { "name": [ "short distal phalanx of the thumb", "short distal phalanx of the thumb" ], "alt_id": [ "HP:0004085", "HP:0004087" ], "def": "Hypoplastic (short) distal phalanx of the thumb.", "synonym": [ [ "hypoplastic terminal thumb phalanx", "hypoplastic terminal thumb phalanx" ], [ "hypoplastic / small distal phalanx of the thumb", "hypoplastic / small distal phalanx of the thumb" ], [ "short outermost bone of the thumb", "short outermost bone of the thumb" ], [ "short terminal thumb phalanx", "short terminal thumb phalanx" ], [ "short thumb terminal phalanx", "short thumb terminal phalanx" ], [ "small terminal thumb phalanx", "small terminal thumb phalanx" ] ], "xref": [ "UMLS:C1862313" ], "is_a": [ "HP:0009641", "HP:0009660", "HP:0009882" ], "is_obsolete": "", "replace_id": "" }, "HP:0009652": { "name": [ "bullet - shaped thumb phalanx", "bullet - shaped thumb phalanx" ], "alt_id": [], "def": "An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped phalanges of the thumb", "bullet - shaped phalanx of the thumb" ], [ "bullet - shaped thumb bone", "bullet - shaped thumb bone" ] ], "xref": [ "UMLS:C4021415" ], "is_a": [ "HP:0009602", "HP:0009769" ], "is_obsolete": "", "replace_id": "" }, "HP:0009653": { "name": [ "curved thumb phalanx", "curve thumb phalanx" ], "alt_id": [], "def": "A deviation from the normal straight shape of a thumb phalanx.", "synonym": [ [ "curved phalanges of the thumb", "curve phalanx of the thumb" ], [ "curved thumb bone", "curve thumb bone" ] ], "xref": [ "UMLS:C4021414" ], "is_a": [ "HP:0004095", "HP:0009602", "HP:0009770" ], "is_obsolete": "", "replace_id": "" }, "HP:0009654": { "name": [ "osteolytic defect of thumb phalanx", "osteolytic defect of thumb phalanx" ], "alt_id": [], "def": "Dissolution or degeneration of bone tissue of one or more phalanges of the thumb.", "synonym": [ [ "osteolytic defects of the phalanges of the thumb", "osteolytic defect of the phalanx of the thumb" ] ], "xref": [ "UMLS:C4020905" ], "is_a": [ "HP:0009602", "HP:0009771" ], "is_obsolete": "", "replace_id": "" }, "HP:0009655": { "name": [ "patchy sclerosis of thumb phalanx", "patchy sclerosis of thumb phalanx" ], "alt_id": [], "def": "An uneven increase in bone density of one or more of the phalanges of the thumb.", "synonym": [ [ "patchy sclerosis of the phalanges of the thumb", "patchy sclerosis of the phalanx of the thumb" ], [ "uneven increase in bone density in thumb bone", "uneven increase in bone density in thumb bone" ] ], "xref": [ "UMLS:C4021413" ], "is_a": [ "HP:0009772", "HP:0100922" ], "is_obsolete": "", "replace_id": "" }, "HP:0009656": { "name": [ "symphalangism of the thumb", "symphalangism of the thumb" ], "alt_id": [ "HP:0004068", "HP:0009639", "HP:0009647" ], "def": "Congenital fusion (ankylosis) of the interphalangeal joint of the thumb.", "synonym": [ [ "fused thumb bones", "fuse thumb bone" ], [ "fused thumb phalanges", "fuse thumb phalanx" ], [ "symphalangism of the distal and proximal phalanges of the thumb", "symphalangism of the distal and proximal phalanx of the thumb" ] ], "xref": [ "UMLS:C1834032" ], "is_a": [ "HP:0001204", "HP:0009617", "HP:0009635" ], "is_obsolete": "", "replace_id": "" }, "HP:0009657": { "name": [ "triangular shaped thumb phalanx", "triangular shape thumb phalanx" ], "alt_id": [ "HP:0004072" ], "def": "Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle.", "synonym": [ [ "triangular shaped phalanges of the thumb", "triangular shape phalanx of the thumb" ], [ "triangular shaped thumb bone", "triangular shape thumb bone" ], [ "triangular thumb phalanges", "triangular thumb phalanx" ] ], "xref": [ "UMLS:C4021412" ], "is_a": [ "HP:0009602" ], "is_obsolete": "", "replace_id": "" }, "HP:0009658": { "name": [ "aplasia / hypoplasia of the phalanges of the thumb", "aplasia / hypoplasia of the phalanx of the thumb" ], "alt_id": [ "HP:0005834" ], "def": "", "synonym": [ [ "absent / small thumb bones", "absent / small thumb bone" ], [ "absent / underdeveloped thumb bones", "absent / underdevelop thumb bone" ] ], "xref": [ "UMLS:C4024256" ], "is_a": [ "HP:0009602", "HP:0009767" ], "is_obsolete": "", "replace_id": "" }, "HP:0009659": { "name": [ "partial absence of thumb", "partial absence of thumb" ], "alt_id": [ "HP:0004065" ], "def": "The absence of a phalangeal segment of a thumb.", "synonym": [ [ "aplasia of the phalanges of the thumb", "aplasia of the phalanx of the thumb" ], [ "partial absence of thumb", "partial absence of thumb" ] ], "xref": [ "UMLS:C4020780", "UMLS:C4024255" ], "is_a": [ "HP:0009601", "HP:0009658" ], "is_obsolete": "", "replace_id": "" }, "HP:0009660": { "name": [ "short phalanx of the thumb", "short phalanx of the thumb" ], "alt_id": [ "HP:0004069", "HP:0004071" ], "def": "Hypoplastic (short) thumb phalanx.", "synonym": [ [ "hypoplastic thumb phalanges", "hypoplastic thumb phalanx" ], [ "hypoplastic / small phalanges of the thumb", "hypoplastic / small phalanx of the thumb" ], [ "short thumb bone", "short thumb bone" ], [ "short thumb phalanges", "short thumb phalanx" ] ], "xref": [ "UMLS:C4021411" ], "is_a": [ "HP:0009658", "HP:0009778" ], "is_obsolete": "", "replace_id": "" }, "HP:0009662": { "name": [ "abnormality of the epiphysis of the distal phalanx of the thumb", "abnormality of the epiphysis of the distal phalanx of the thumb" ], "alt_id": [ "HP:0004089" ], "def": "Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.", "synonym": [ [ "abnormality of terminal thumb epiphysis", "abnormality of terminal thumb epiphysis" ], [ "abnormality of the end part of the outermost bone of the thumb", "abnormality of the end part of the outermost bone of the thumb" ] ], "xref": [ "UMLS:C4021410" ], "is_a": [ "HP:0009599", "HP:0009617", "HP:0010243" ], "is_obsolete": "", "replace_id": "" }, "HP:0009663": { "name": [ "abnormality of the epiphysis of the proximal phalanx of the thumb", "abnormality of the epiphysis of the proximal phalanx of the thumb" ], "alt_id": [], "def": "This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.", "synonym": [ [ "abnormality of end part of thumb innermost long bone", "abnormality of end part of thumb innermost long bone" ] ], "xref": [ "UMLS:C4024254" ], "is_a": [ "HP:0009599", "HP:0009618", "HP:0010244" ], "is_obsolete": "", "replace_id": "" }, "HP:0009664": { "name": [ "absent epiphysis of the proximal phalanx of the thumb", "absent epiphysis of the proximal phalanx of the thumb" ], "alt_id": [], "def": "Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.", "synonym": [ [ "absent end part of thumb innermost long bone", "absent end part of thumb innermost long bone" ] ], "xref": [ "UMLS:C4024253" ], "is_a": [ "HP:0009663", "HP:0009686", "HP:0010257" ], "is_obsolete": "", "replace_id": "" }, "HP:0009665": { "name": [ "bracket epiphysis of the proximal phalanx of the thumb", "bracket epiphysis of the proximal phalanx of the thumb" ], "alt_id": [], "def": "An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of thumb innermost long bone", "bracket shape end part of thumb innermost long bone" ] ], "xref": [ "UMLS:C4024252" ], "is_a": [ "HP:0009663", "HP:0009687", "HP:0010258" ], "is_obsolete": "", "replace_id": "" }, "HP:0009666": { "name": [ "cone - shaped epiphysis of the proximal phalanx of the thumb", "cone - shaped epiphysis of the proximal phalanx of the thumb" ], "alt_id": [], "def": "A cone-shaped appearance of the epiphysis of the middle phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.", "synonym": [ [ "cone - shaped end part of thumb innermost long bone", "cone - shaped end part of thumb innermost long bone" ] ], "xref": [ "UMLS:C4024251" ], "is_a": [ "HP:0009663", "HP:0009688", "HP:0010259" ], "is_obsolete": "", "replace_id": "" }, "HP:0009667": { "name": [ "enlarged epiphysis of the proximal phalanx of the thumb", "enlarged epiphysis of the proximal phalanx of the thumb" ], "alt_id": [], "def": "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.", "synonym": [ [ "enlarged end part of thumb innermost long bone", "enlarged end part of thumb innermost long bone" ] ], "xref": [ "UMLS:C4024250" ], "is_a": [ "HP:0009663", "HP:0009689", "HP:0010260" ], "is_obsolete": "", "replace_id": "" }, "HP:0009668": { "name": [ "fragmentation of the epiphysis of the proximal phalanx of the thumb", "fragmentation of the epiphysis of the proximal phalanx of the thumb" ], "alt_id": [], "def": "Epiphysis of the proximal phalanx of the thumb having multiple bony fragments.", "synonym": [ [ "fragmentation of end part of thumb innermost long bone", "fragmentation of end part of thumb innermost long bone" ] ], "xref": [ "UMLS:C4024249" ], "is_a": [ "HP:0009663", "HP:0009690", "HP:0010261" ], "is_obsolete": "", "replace_id": "" }, "HP:0009669": { "name": [ "irregular epiphysis of the proximal phalanx of the thumb", "irregular epiphysis of the proximal phalanx of the thumb" ], "alt_id": [], "def": "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.", "synonym": [ [ "irregular end part of thumb innermost long bone", "irregular end part of thumb innermost long bone" ] ], "xref": [ "UMLS:C4024248" ], "is_a": [ "HP:0009663", "HP:0009691", "HP:0010262" ], "is_obsolete": "", "replace_id": "" }, "HP:0009670": { "name": [ "ivory epiphysis of the proximal phalanx of the thumb", "ivory epiphysis of the proximal phalanx of the thumb" ], "alt_id": [], "def": "Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the innermost bone of the thumb", "increase bone density of end part of the innermost bone of the thumb" ] ], "xref": [ "UMLS:C4024247" ], "is_a": [ "HP:0009663", "HP:0009692", "HP:0010263" ], "is_obsolete": "", "replace_id": "" }, "HP:0009671": { "name": [ "pseudoepiphysis of the proximal phalanx of the thumb", "pseudoepiphysis of the proximal phalanx of the thumb" ], "alt_id": [], "def": "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb.", "synonym": [], "xref": [ "UMLS:C4024246" ], "is_a": [ "HP:0009663", "HP:0009693", "HP:0010264" ], "is_obsolete": "", "replace_id": "" }, "HP:0009672": { "name": [ "small epiphysis of the proximal phalanx of the thumb", "small epiphysis of the proximal phalanx of the thumb" ], "alt_id": [], "def": "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms.", "synonym": [ [ "small end part of thumb innermost long bone", "small end part of thumb innermost long bone" ] ], "xref": [ "UMLS:C4024245" ], "is_a": [ "HP:0009663", "HP:0009694", "HP:0010265" ], "is_obsolete": "", "replace_id": "" }, "HP:0009673": { "name": [ "stippling of the epiphysis of the proximal phalanx of the thumb", "stippling of the epiphysis of the proximal phalanx of the thumb" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.", "synonym": [ [ "speckled calcifications in end part of thumb innermost long bone", "speckled calcification in end part of thumb innermost long bone" ] ], "xref": [ "UMLS:C4024244" ], "is_a": [ "HP:0009663", "HP:0009695", "HP:0010266" ], "is_obsolete": "", "replace_id": "" }, "HP:0009674": { "name": [ "triangular epiphysis of the proximal phalanx of the thumb", "triangular epiphysis of the proximal phalanx of the thumb" ], "alt_id": [], "def": "A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.", "synonym": [ [ "triangular end part of thumb innermost long bone", "triangular end part of thumb innermost long bone" ] ], "xref": [ "UMLS:C4024243" ], "is_a": [ "HP:0009663", "HP:0009696", "HP:0010267" ], "is_obsolete": "", "replace_id": "" }, "HP:0009675": { "name": [ "absent epiphysis of the distal phalanx of the thumb", "absent epiphysis of the distal phalanx of the thumb" ], "alt_id": [], "def": "Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb.", "synonym": [ [ "absent end part of thumb outermost long bone", "absent end part of thumb outermost long bone" ] ], "xref": [ "UMLS:C4024242" ], "is_a": [ "HP:0009662", "HP:0009686", "HP:0010246" ], "is_obsolete": "", "replace_id": "" }, "HP:0009676": { "name": [ "bracket epiphysis of the distal phalanx of the thumb", "bracket epiphysis of the distal phalanx of the thumb" ], "alt_id": [], "def": "An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of thumb outermost long bone", "bracket shape end part of thumb outermost long bone" ] ], "xref": [ "UMLS:C4024241" ], "is_a": [ "HP:0009662", "HP:0009687", "HP:0010247" ], "is_obsolete": "", "replace_id": "" }, "HP:0009677": { "name": [ "cone - shaped epiphysis of the distal phalanx of the thumb", "cone - shaped epiphysis of the distal phalanx of the thumb" ], "alt_id": [ "HP:0004091" ], "def": "A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.", "synonym": [ [ "cone - shaped end part of thumb outermost long bone", "cone - shaped end part of thumb outermost long bone" ], [ "cone - shaped terminal thumb phalanx epiphysis", "cone - shape terminal thumb phalanx epiphysis" ] ], "xref": [ "UMLS:C4021409" ], "is_a": [ "HP:0009662", "HP:0009688", "HP:0010248" ], "is_obsolete": "", "replace_id": "" }, "HP:0009678": { "name": [ "enlarged epiphysis of the distal phalanx of the thumb", "enlarged epiphysis of the distal phalanx of the thumb" ], "alt_id": [ "HP:0004092" ], "def": "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of thumb outermost long bone", "enlarged end part of thumb outermost long bone" ], [ "large terminal thumb phalanx epiphysis", "large terminal thumb phalanx epiphysis" ] ], "xref": [ "UMLS:C4021408" ], "is_a": [ "HP:0009662", "HP:0009689", "HP:0010249" ], "is_obsolete": "", "replace_id": "" }, "HP:0009679": { "name": [ "fragmentation of the epiphysis of the distal phalanx of the thumb", "fragmentation of the epiphysis of the distal phalanx of the thumb" ], "alt_id": [], "def": "Epiphysis of the distal phalanx of the thumb having multiple bony fragments.", "synonym": [ [ "fragmentation of end part thumb outermost long bone", "fragmentation of end part thumb outermost long bone" ] ], "xref": [ "UMLS:C4024240" ], "is_a": [ "HP:0009662", "HP:0009690", "HP:0010250" ], "is_obsolete": "", "replace_id": "" }, "HP:0009680": { "name": [ "irregular epiphysis of the distal phalanx of the thumb", "irregular epiphysis of the distal phalanx of the thumb" ], "alt_id": [], "def": "Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb.", "synonym": [ [ "irregular end part of thumb outermost bone", "irregular end part of thumb outermost bone" ] ], "xref": [ "UMLS:C4024239" ], "is_a": [ "HP:0009662", "HP:0009691", "HP:0010251" ], "is_obsolete": "", "replace_id": "" }, "HP:0009681": { "name": [ "ivory epiphysis of the distal phalanx of the thumb", "ivory epiphysis of the distal phalanx of the thumb" ], "alt_id": [], "def": "Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the outermost bone of the thumb", "increase bone density of end part of the outermost bone of the thumb" ] ], "xref": [ "UMLS:C4024238" ], "is_a": [ "HP:0009662", "HP:0009692", "HP:0010252" ], "is_obsolete": "", "replace_id": "" }, "HP:0009682": { "name": [ "pseudoepiphysis of the distal phalanx of the thumb", "pseudoepiphysis of the distal phalanx of the thumb" ], "alt_id": [], "def": "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb.", "synonym": [ [ "pseudoepiphysis of the outermost bone of the thumb", "pseudoepiphysis of the outermost bone of the thumb" ] ], "xref": [ "UMLS:C4024237" ], "is_a": [ "HP:0009662", "HP:0009693", "HP:0010253" ], "is_obsolete": "", "replace_id": "" }, "HP:0009683": { "name": [ "small epiphysis of the distal phalanx of the thumb", "small epiphysis of the distal phalanx of the thumb" ], "alt_id": [], "def": "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.", "synonym": [ [ "small end part of thumb outermost bone", "small end part of thumb outermost bone" ] ], "xref": [ "UMLS:C4024236" ], "is_a": [ "HP:0009662", "HP:0009694", "HP:0010254" ], "is_obsolete": "", "replace_id": "" }, "HP:0009684": { "name": [ "stippling of the epiphysis of the distal phalanx of the thumb", "stippling of the epiphysis of the distal phalanx of the thumb" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb.", "synonym": [ [ "speckled calcifications in the end part of the outermost thumb bone", "speckled calcification in the end part of the outermost thumb bone" ] ], "xref": [ "UMLS:C4024235" ], "is_a": [ "HP:0009662", "HP:0009695", "HP:0010255" ], "is_obsolete": "", "replace_id": "" }, "HP:0009685": { "name": [ "triangular epiphysis of the distal phalanx of the thumb", "triangular epiphysis of the distal phalanx of the thumb" ], "alt_id": [], "def": "A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.", "synonym": [ [ "triangular end part of thumb outermost bone", "triangular end part of thumb outermost bone" ], [ "triangular epiphysis of the outermost bone of the thumb", "triangular epiphysis of the outermost bone of the thumb" ] ], "xref": [ "UMLS:C4024234" ], "is_a": [ "HP:0009662", "HP:0009696", "HP:0010256" ], "is_obsolete": "", "replace_id": "" }, "HP:0009686": { "name": [ "absent epiphyses of the thumb", "absent epiphysis of the thumb" ], "alt_id": [], "def": "Absence of one or more epiphyses of the thumb.", "synonym": [], "xref": [ "UMLS:C4024233" ], "is_a": [ "HP:0009599", "HP:0010228" ], "is_obsolete": "", "replace_id": "" }, "HP:0009687": { "name": [ "bracket epiphyses of the thumb", "bracket epiphysis of the thumb" ], "alt_id": [], "def": "An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of the thumb bone", "bracket shape end part of the thumb bone" ] ], "xref": [ "UMLS:C4024232" ], "is_a": [ "HP:0009599", "HP:0010229" ], "is_obsolete": "", "replace_id": "" }, "HP:0009688": { "name": [ "cone - shaped epiphysis of the thumb", "cone - shaped epiphysis of the thumb" ], "alt_id": [ "HP:0004075" ], "def": "A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.", "synonym": [ [ "cone - shaped end part of thumb long bone", "cone - shaped end part of thumb long bone" ], [ "cone - shaped epiphyses of the thumb", "cone - shaped epiphysis of the thumb" ], [ "cone - shaped thumb epiphyses", "cone - shaped thumb epiphysis" ] ], "xref": [ "UMLS:C4021407" ], "is_a": [ "HP:0009599", "HP:0010230" ], "is_obsolete": "", "replace_id": "" }, "HP:0009689": { "name": [ "enlarged thumb epiphysis", "enlarge thumb epiphysis" ], "alt_id": [], "def": "Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of thumb long bone", "enlarged end part of thumb long bone" ], [ "enlarged epiphyses of the thumb", "enlarged epiphysis of the thumb" ] ], "xref": [ "UMLS:C4021406" ], "is_a": [ "HP:0009599", "HP:0010231" ], "is_obsolete": "", "replace_id": "" }, "HP:0009690": { "name": [ "fragmentation of thumb epiphysis", "fragmentation of thumb epiphysis" ], "alt_id": [], "def": "Epiphysis of the thumb having multiple bony fragments.", "synonym": [ [ "fragmentation of end part of long bone of thumb", "fragmentation of end part of long bone of thumb" ], [ "fragmentation of the epiphyses of the thumb", "fragmentation of the epiphysis of the thumb" ] ], "xref": [ "UMLS:C4021405" ], "is_a": [ "HP:0009599", "HP:0010232" ], "is_obsolete": "", "replace_id": "" }, "HP:0009691": { "name": [ "irregular thumb epiphysis", "irregular thumb epiphysis" ], "alt_id": [], "def": "Uneven radiographic opacity of the one or more epiphyses of the thumb.", "synonym": [ [ "irregular end part of thumb long bone", "irregular end part of thumb long bone" ], [ "irregular epiphyses of the thumb", "irregular epiphysis of the thumb" ] ], "xref": [ "UMLS:C4021404" ], "is_a": [ "HP:0009599", "HP:0010233" ], "is_obsolete": "", "replace_id": "" }, "HP:0009692": { "name": [ "ivory epiphysis of the thumb", "ivory epiphysis of the thumb" ], "alt_id": [], "def": "Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the thumb", "increase bone density of end part of the thumb" ], [ "ivory epiphyses of the thumb", "ivory epiphysis of the thumb" ] ], "xref": [ "UMLS:C4021403" ], "is_a": [ "HP:0009599", "HP:0010234", "HP:0100922" ], "is_obsolete": "", "replace_id": "" }, "HP:0009693": { "name": [ "pseudoepiphysis of the thumb", "pseudoepiphysis of the thumb" ], "alt_id": [], "def": "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.", "synonym": [ [ "pseudoepiphyses of the thumb", "pseudoepiphyses of the thumb" ] ], "xref": [ "UMLS:C3552484" ], "is_a": [ "HP:0009599", "HP:0010235" ], "is_obsolete": "", "replace_id": "" }, "HP:0009694": { "name": [ "small thumb epiphysis", "small thumb epiphysis" ], "alt_id": [], "def": "Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms.", "synonym": [ [ "small end part of thumb long bone", "small end part of thumb long bone" ], [ "small epiphyses of the thumb", "small epiphysis of the thumb" ] ], "xref": [ "UMLS:C4021402" ], "is_a": [ "HP:0009599", "HP:0010236" ], "is_obsolete": "", "replace_id": "" }, "HP:0009695": { "name": [ "stippling of thumb epiphysis", "stippling of thumb epiphysis" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb.", "synonym": [ [ "speckled calcifications in end part of thumb bone", "speckled calcification in end part of thumb bone" ], [ "stippling of the epiphyses of the thumb", "stippling of the epiphysis of the thumb" ] ], "xref": [ "UMLS:C4021401" ], "is_a": [ "HP:0009599", "HP:0010237" ], "is_obsolete": "", "replace_id": "" }, "HP:0009696": { "name": [ "triangular epiphyses of the thumb", "triangular epiphysis of the thumb" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the thumb bone", "triangular end part of the thumb bone" ] ], "xref": [ "UMLS:C4024231" ], "is_a": [ "HP:0009599", "HP:0010238" ], "is_obsolete": "", "replace_id": "" }, "HP:0009697": { "name": [ "contracture of the distal interphalangeal joint of the fingers", "contracture of the distal interphalangeal joint of the finger" ], "alt_id": [], "def": "Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.", "synonym": [], "xref": [ "UMLS:C4024230" ], "is_a": [ "HP:0001220" ], "is_obsolete": "", "replace_id": "" }, "HP:0009699": { "name": [ "osteolytic defects of the hand bones", "osteolytic defect of the hand bone" ], "alt_id": [ "HP:0004282", "HP:0006082" ], "def": "", "synonym": [ [ "lytic defects of hand bones", "lytic defect of hand bone" ] ], "xref": [ "UMLS:C4021400" ], "is_a": [ "HP:0001155", "HP:0045039" ], "is_obsolete": "", "replace_id": "" }, "HP:0009700": { "name": [ "finger symphalangism", "finger symphalangism" ], "alt_id": [], "def": "An abnormal union between bones or parts of bones of the fingers. The synonymous term \\\"symphalangism of the hand\\", "synonym": [ [ "fused finger bones", "fuse finger bone" ], [ "symphalangism of the hand", "symphalangism of the hand" ], [ "synostosis involving bones of the fingers", "synostosis involve bone of the finger" ] ], "xref": [ "UMLS:C4021399" ], "is_a": [ "HP:0004278", "HP:0100262" ], "is_obsolete": "", "replace_id": "" }, "HP:0009701": { "name": [ "metacarpal synostosis", "metacarpal synostosis" ], "alt_id": [ "HP:0005915", "HP:0006041" ], "def": "Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).", "synonym": [ [ "fused long bones of hand", "fuse long bone of hand" ], [ "synostosis involving metacarpal bones", "synostosis involve metacarpal bone" ], [ "synostosis involving the metacarpal bones", "synostosis involve the metacarpal bone" ] ], "xref": [ "UMLS:C4021398" ], "is_a": [ "HP:0004278", "HP:0005916", "HP:0100265" ], "is_obsolete": "", "replace_id": "" }, "HP:0009702": { "name": [ "carpal synostosis", "carpal synostosis" ], "alt_id": [ "HP:0001192", "HP:0005799" ], "def": "Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).", "synonym": [ [ "carpal bone fusion", "carpal bone fusion" ], [ "carpal fusion", "carpal fusion" ], [ "fused carpal bones", "fuse carpal bone" ], [ "fused wrist bones", "fuse wrist bone" ], [ "fusion of carpal bones", "fusion of carpal bone" ], [ "synostosis involving the carpal bones", "synostosis involve the carpal bone" ] ], "xref": [ "SNOMEDCT_US:253930002", "UMLS:C0431863" ], "is_a": [ "HP:0001191", "HP:0004278", "HP:0100266" ], "is_obsolete": "", "replace_id": "" }, "HP:0009703": { "name": [ "synostosis involving the 1st metacarpal", "synostosis involve the 1st metacarpal" ], "alt_id": [ "HP:0005614", "HP:0010032" ], "def": "Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.", "synonym": [ [ "first metacarpophalangeal joint synostosis", "first metacarpophalangeal joint synostosis" ], [ "fusion involving 1st long bone of hand", "fusion involve 1st long bone of hand" ], [ "symphalangism affecting the 1st metacarpal", "symphalangism affect the 1st metacarpal" ] ], "xref": [ "UMLS:C4021397" ], "is_a": [ "HP:0009701", "HP:0010009" ], "is_obsolete": "", "replace_id": "" }, "HP:0009704": { "name": [ "chronic csf lymphocytosis", "chronic csf lymphocytosis" ], "alt_id": [], "def": "Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.", "synonym": [ [ "chronic cerebrospinal fluid lymphocytosis", "chronic cerebrospinal fluid lymphocytosis" ] ], "xref": [ "UMLS:C4024229" ], "is_a": [ "HP:0200149" ], "is_obsolete": "", "replace_id": "" }, "HP:0009705": { "name": [ "synostosis involving the 2nd metacarpal", "synostosis involve the 2nd metacarpal" ], "alt_id": [], "def": "", "synonym": [ [ "fusion involving the 2nd long bone of hand", "fusion involve the 2nd long bone of hand" ] ], "xref": [ "UMLS:C4024228" ], "is_a": [ "HP:0009701", "HP:0010010" ], "is_obsolete": "", "replace_id": "" }, "HP:0009706": { "name": [ "synostosis involving the 3rd metacarpal", "synostosis involve the 3rd metacarpal" ], "alt_id": [], "def": "", "synonym": [ [ "fusion involving the 3rd long bone of hand", "fusion involve the 3rd long bone of hand" ] ], "xref": [ "UMLS:C4024227" ], "is_a": [ "HP:0009701", "HP:0010011" ], "is_obsolete": "", "replace_id": "" }, "HP:0009707": { "name": [ "synostosis involving the 4th metacarpal", "synostosis involve the 4th metacarpal" ], "alt_id": [], "def": "", "synonym": [ [ "fusion involving the 4th long bone of hand", "fusion involve the 4th long bone of hand" ] ], "xref": [ "UMLS:C4024226" ], "is_a": [ "HP:0009701", "HP:0010012" ], "is_obsolete": "", "replace_id": "" }, "HP:0009708": { "name": [ "synostosis involving the 5th metacarpal", "synostosis involve the 5th metacarpal" ], "alt_id": [], "def": "", "synonym": [ [ "fusion involving the 5th long bone of hand", "fusion involve the 5th long bone of hand" ] ], "xref": [ "UMLS:C4024225" ], "is_a": [ "HP:0009701", "HP:0010013" ], "is_obsolete": "", "replace_id": "" }, "HP:0009709": { "name": [ "increased csf interferon alpha", "increase csf interferon alpha" ], "alt_id": [], "def": "Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).", "synonym": [], "xref": [ "UMLS:C1856983" ], "is_a": [ "HP:0025454" ], "is_obsolete": "", "replace_id": "" }, "HP:0009710": { "name": [ "chilblains", "chilblain" ], "alt_id": [], "def": "Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.", "synonym": [ [ "chilblain lesions", "chilblain lesion" ] ], "xref": [ "UMLS:C4024224" ], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0009711": { "name": [ "retinal capillary hemangioma", "retinal capillary hemangioma" ], "alt_id": [], "def": "A benign vascular tumor of the retina without any neoplastic characteristics.", "synonym": [ [ "retinal hemangioblastoma", "retinal hemangioblastoma" ] ], "xref": [ "NCIT:C3801", "SNOMEDCT_US:312935003", "UMLS:C0730303", "UMLS:C1514915" ], "is_a": [ "HP:0001028", "HP:0009594", "HP:0010797" ], "is_obsolete": "", "replace_id": "" }, "HP:0009713": { "name": [ "spinal hemangioblastoma", "spinal hemangioblastoma" ], "alt_id": [], "def": "A hemangioblastoma of the spinal cord.", "synonym": [], "xref": [ "NCIT:C3801", "UMLS:C4024223" ], "is_a": [ "HP:0010302", "HP:0010797" ], "is_obsolete": "", "replace_id": "" }, "HP:0009714": { "name": [ "abnormality of the epididymis", "abnormality of the epididymis" ], "alt_id": [], "def": "An abnormality of the epididymis.", "synonym": [], "xref": [ "UMLS:C4024222" ], "is_a": [ "HP:0000022" ], "is_obsolete": "", "replace_id": "" }, "HP:0009715": { "name": [ "papillary cystadenoma of the epididymis", "papillary cystadenoma of the epididymis" ], "alt_id": [ "HP:0030422" ], "def": "A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.", "synonym": [], "xref": [ "NCIT:C2974", "UMLS:C4024221" ], "is_a": [ "HP:0009714", "HP:0030421" ], "is_obsolete": "", "replace_id": "" }, "HP:0009716": { "name": [ "subependymal nodules", "subependymal nodule" ], "alt_id": [], "def": "Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis.", "synonym": [], "xref": [ "UMLS:C1968958" ], "is_a": [ "HP:0002118", "HP:0009731" ], "is_obsolete": "", "replace_id": "" }, "HP:0009717": { "name": [ "cortical tubers", "cortical tuber" ], "alt_id": [], "def": "Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.", "synonym": [], "xref": [ "UMLS:C1968959" ], "is_a": [ "HP:0002538", "HP:0009731" ], "is_obsolete": "", "replace_id": "" }, "HP:0009718": { "name": [ "subependymal giant - cell astrocytoma", "subependymal giant - cell astrocytoma" ], "alt_id": [], "def": "A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis.", "synonym": [], "xref": [ "MSH:D001254", "SNOMEDCT_US:1586004", "SNOMEDCT_US:449799008", "UMLS:C0205768" ], "is_a": [ "HP:0009592" ], "is_obsolete": "", "replace_id": "" }, "HP:0009719": { "name": [ "hypomelanotic macule", "hypomelanotic macule" ], "alt_id": [], "def": "Hypomelanotic macules (\\\"ash leaf spots\\\") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.", "synonym": [ [ "hypomelanotic macules", "hypomelanotic macule" ] ], "xref": [ "UMLS:C4024220" ], "is_a": [ "HP:0001010", "HP:0020073" ], "is_obsolete": "", "replace_id": "" }, "HP:0009720": { "name": [ "adenoma sebaceum", "adenoma sebaceum" ], "alt_id": [], "def": "The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.", "synonym": [ [ "facial angiofibromas", "facial angiofibromas" ], [ "sebaceous adenoma", "sebaceous adenoma" ], [ "sebaceous adenomas", "sebaceous adenoma" ] ], "xref": [ "MSH:D014402", "SNOMEDCT_US:36025004", "SNOMEDCT_US:78424008", "UMLS:C0265319", "UMLS:C1368816" ], "is_a": [ "HP:0008069", "HP:0010615", "HP:0011799" ], "is_obsolete": "", "replace_id": "" }, "HP:0009721": { "name": [ "shagreen patch", "shagreen patch" ], "alt_id": [], "def": "A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather.", "synonym": [], "xref": [ "SNOMEDCT_US:254244007", "UMLS:C0432363" ], "is_a": [ "HP:0100898" ], "is_obsolete": "", "replace_id": "" }, "HP:0009722": { "name": [ "dental enamel pits", "dental enamel pit" ], "alt_id": [], "def": "The presence of small depressions in the dental enamel.", "synonym": [ [ "dental enamel pits", "dental enamel pit" ], [ "dental enamel pitting", "dental enamel pitting" ], [ "pitting of tooth enamel", "pitting of tooth enamel" ], [ "tooth enamel pits", "tooth enamel pit" ] ], "xref": [ "UMLS:C1860711" ], "is_a": [ "HP:0000682" ], "is_obsolete": "", "replace_id": "" }, "HP:0009723": { "name": [ "abnormality of the subungual region", "abnormality of the subungual region" ], "alt_id": [], "def": "A lesion located beneath a fingernail or toenail.", "synonym": [], "xref": [ "UMLS:C4024219" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0009724": { "name": [ "subungual fibromas", "subungual fibroma" ], "alt_id": [], "def": "The presence of fibromata beneath finger or toenails.", "synonym": [ [ "subungual fibroma", "subungual fibroma" ] ], "xref": [ "SNOMEDCT_US:39295002", "UMLS:C0266003" ], "is_a": [ "HP:0009723", "HP:0010614" ], "is_obsolete": "", "replace_id": "" }, "HP:0009725": { "name": [ "bladder neoplasm", "bladder neoplasm" ], "alt_id": [], "def": "The presence of a neoplasm of the urinary bladder.", "synonym": [ [ "bladder cancer", "bladder cancer" ], [ "bladder tumor", "bladder tumor" ], [ "bladder tumour", "bladder tumour" ] ], "xref": [ "MSH:D001749", "NCIT:C3262", "SNOMEDCT_US:126885006", "UMLS:C0005695" ], "is_a": [ "HP:0010786" ], "is_obsolete": "", "replace_id": "" }, "HP:0009726": { "name": [ "renal neoplasm", "renal neoplasm" ], "alt_id": [ "HP:0005933" ], "def": "The presence of a neoplasm of the kidney.", "synonym": [ [ "kidney cancer", "kidney cancer" ], [ "neoplasia of the kidneys", "neoplasia of the kidney" ], [ "renal neoplasia", "renal neoplasia" ], [ "renal tumors", "renal tumor" ], [ "renal tumours", "renal tumour" ] ], "xref": [ "MSH:D007680", "NCIT:C3262", "SNOMEDCT_US:126880001", "UMLS:C0022665", "UMLS:C1378703" ], "is_a": [ "HP:0000077", "HP:0010786" ], "is_obsolete": "", "replace_id": "" }, "HP:0009727": { "name": [ "achromatic retinal patches", "achromatic retinal patch" ], "alt_id": [], "def": "Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina.", "synonym": [ [ "punched out areas of chorioretinal hypopigmentation", "punch out area of chorioretinal hypopigmentation" ] ], "xref": [ "UMLS:C1860710" ], "is_a": [ "HP:0007894" ], "is_obsolete": "", "replace_id": "" }, "HP:0009728": { "name": [ "neoplasm of striated muscle", "neoplasm of striated muscle" ], "alt_id": [], "def": "A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle.", "synonym": [ [ "tumors of striated muscle", "tumor of striated muscle" ], [ "tumours of striated muscle", "tumour of striated muscle" ] ], "xref": [ "NCIT:C3262", "UMLS:C4021396" ], "is_a": [ "HP:0003011", "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0009729": { "name": [ "cardiac rhabdomyoma", "cardiac rhabdomyoma" ], "alt_id": [], "def": "A benign tumor of cardiac striated muscle.", "synonym": [], "xref": [ "UMLS:C1332852" ], "is_a": [ "HP:0009730", "HP:0100544" ], "is_obsolete": "", "replace_id": "" }, "HP:0009730": { "name": [ "rhabdomyoma", "rhabdomyoma" ], "alt_id": [], "def": "A benign tumor of striated muscle.", "synonym": [], "xref": [ "MSH:D012207", "NCIT:C3358", "SNOMEDCT_US:302846007", "SNOMEDCT_US:402877008", "SNOMEDCT_US:43375002", "UMLS:C0035411" ], "is_a": [ "HP:0009728" ], "is_obsolete": "", "replace_id": "" }, "HP:0009731": { "name": [ "cerebral hamartoma", "cerebral hamartoma" ], "alt_id": [], "def": "The presence of a hamartoma of the cerebrum.", "synonym": [ [ "cerebral hamartomata", "cerebral hamartomata" ] ], "xref": [ "UMLS:C4024218" ], "is_a": [ "HP:0010566", "HP:0100835" ], "is_obsolete": "", "replace_id": "" }, "HP:0009732": { "name": [ "plexiform neurofibroma", "plexiform neurofibroma" ], "alt_id": [], "def": "A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.", "synonym": [], "xref": [ "MSH:D018318", "SNOMEDCT_US:403818001", "SNOMEDCT_US:41252002", "UMLS:C0206728" ], "is_a": [ "HP:0001067" ], "is_obsolete": "", "replace_id": "" }, "HP:0009733": { "name": [ "glioma", "glioma" ], "alt_id": [], "def": "The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).", "synonym": [], "xref": [ "MSH:D005910", "NCIT:C3059", "SNOMEDCT_US:115240006", "SNOMEDCT_US:393564001", "SNOMEDCT_US:74532006", "UMLS:C0017638" ], "is_a": [ "HP:0030063", "HP:0100705", "HP:0100836" ], "is_obsolete": "", "replace_id": "" }, "HP:0009734": { "name": [ "optic nerve glioma", "optic nerve glioma" ], "alt_id": [], "def": "A glioma originating in the optic nerve or optic chiasm.", "synonym": [ [ "optic glioma", "optic glioma" ] ], "xref": [ "MSH:D020339", "SNOMEDCT_US:254976006", "SNOMEDCT_US:404662003", "UMLS:C0346326" ], "is_a": [ "HP:0009733" ], "is_obsolete": "", "replace_id": "" }, "HP:0009735": { "name": [ "spinal neurofibromas", "spinal neurofibroma" ], "alt_id": [ "HP:0007077" ], "def": "Neurofibromas originating in the spine.", "synonym": [], "xref": [ "UMLS:C4024217" ], "is_a": [ "HP:0001067" ], "is_obsolete": "", "replace_id": "" }, "HP:0009736": { "name": [ "tibial pseudarthrosis", "tibial pseudarthrosis" ], "alt_id": [], "def": "Pseudarthrosis, or \\\"false joint\\", "synonym": [ [ "tibial pseudoarthrosis", "tibial pseudoarthrosis" ] ], "xref": [ "UMLS:C4024216" ], "is_a": [ "HP:0002992", "HP:0005864" ], "is_obsolete": "", "replace_id": "" }, "HP:0009737": { "name": [ "lisch nodules", "lisch nodule" ], "alt_id": [], "def": "The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..", "synonym": [ [ "iris hamartomas", "iris hamartoma" ] ], "xref": [ "UMLS:C1860334" ], "is_a": [ "HP:0000525", "HP:0010568" ], "is_obsolete": "", "replace_id": "" }, "HP:0009738": { "name": [ "abnormality of the antihelix", "abnormality of the antihelix" ], "alt_id": [], "def": "An abnormality of the antihelix.", "synonym": [ [ "abnormal antehelix", "abnormal antehelix" ], [ "abnormal anthelix", "abnormal anthelix" ], [ "abnormal antihelix", "abnormal antihelix" ] ], "xref": [ "UMLS:C4021395" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0009739": { "name": [ "hypoplasia of the antihelix", "hypoplasia of the antihelix" ], "alt_id": [], "def": "Developmental hypoplasia of the antihelix.", "synonym": [ [ "hypoplastic antihelix", "hypoplastic antihelix" ] ], "xref": [ "UMLS:C4021394" ], "is_a": [ "HP:0009738" ], "is_obsolete": "", "replace_id": "" }, "HP:0009740": { "name": [ "aplasia of the parotid gland", "aplasia of the parotid gland" ], "alt_id": [], "def": "Absence of the parotid gland.", "synonym": [ [ "abnormally small parotid gland", "abnormally small parotid gland" ], [ "absence of the parotid gland", "absence of the parotid gland" ], [ "hypoplasia of parotid gland", "hypoplasia of parotid gland" ], [ "underdevelopment of parotid gland", "underdevelopment of parotid gland" ] ], "xref": [ "UMLS:C1400252", "UMLS:C4020779", "UMLS:C4024215" ], "is_a": [ "HP:0000197" ], "is_obsolete": "", "replace_id": "" }, "HP:0009741": { "name": [ "nephrosclerosis", "nephrosclerosis" ], "alt_id": [], "def": "Nephrosclerosis refers to thickening or scarring (\\\"sclerosis\\\") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries.", "synonym": [ [ "scarring of kidney arteries", "scarring of kidney artery" ], [ "thickening of kidney artiries", "thickening of kidney artiries" ] ], "xref": [ "MSH:D009400", "SNOMEDCT_US:32916005", "UMLS:C0027719" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0009742": { "name": [ "stiff shoulders", "stiff shoulder" ], "alt_id": [], "def": "Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity.", "synonym": [ [ "stiff shoulders", "stiff shoulder" ] ], "xref": [ "SNOMEDCT_US:249918006", "UMLS:C0241042" ], "is_a": [ "HP:0001387", "HP:0033129" ], "is_obsolete": "", "replace_id": "" }, "HP:0009743": { "name": [ "distichiasis", "distichiasis" ], "alt_id": [], "def": "Double rows of eyelashes.", "synonym": [ [ "distichiasis of eyelid eyelashes", "distichiasis of eyelid eyelash" ] ], "xref": [ "SNOMEDCT_US:95339000", "UMLS:C0423848" ], "is_a": [ "HP:0008496" ], "is_obsolete": "", "replace_id": "" }, "HP:0009744": { "name": [ "abnormal spinal dura mater morphology", "abnormal spinal dura mater morphology" ], "alt_id": [], "def": "An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord.", "synonym": [ [ "abnormality of the spinal dura mater", "abnormality of the spinal dura mater" ] ], "xref": [ "UMLS:C4024214" ], "is_a": [ "HP:0010303", "HP:0010652" ], "is_obsolete": "", "replace_id": "" }, "HP:0009745": { "name": [ "spinal arachnoid cyst", "spinal arachnoid cyst" ], "alt_id": [], "def": "Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.", "synonym": [ [ "epidural arachnoid cysts of the spinal canal", "epidural arachnoid cyst of the spinal canal" ] ], "xref": [ "UMLS:C4021393" ], "is_a": [ "HP:0010303", "HP:0100702" ], "is_obsolete": "", "replace_id": "" }, "HP:0009746": { "name": [ "thick nasal septum", "thick nasal septum" ], "alt_id": [], "def": "Abnormally increased thickness of the nasal septum.", "synonym": [ [ "broad nasal septum", "broad nasal septum" ], [ "broad septum of nose", "broad septum of nose" ], [ "thick nasal septum", "thick nasal septum" ], [ "thick septum of nose", "thick septum of nose" ], [ "wide nasal septum", "wide nasal septum" ], [ "wide septum of nose", "wide septum of nose" ] ], "xref": [ "UMLS:C1844810" ], "is_a": [ "HP:0000419" ], "is_obsolete": "", "replace_id": "" }, "HP:0009747": { "name": [ "lumbosacral hirsutism", "lumbosacral hirsutism" ], "alt_id": [], "def": "Abnormally increased hair growth in the lumbosacral region.", "synonym": [], "xref": [ "UMLS:C1851095" ], "is_a": [ "HP:0009889" ], "is_obsolete": "", "replace_id": "" }, "HP:0009748": { "name": [ "large earlobe", "large earlobe" ], "alt_id": [ "HP:0004449", "HP:0004456" ], "def": "Increased volume of the earlobe, that is, abnormally prominent ear lobules.", "synonym": [ [ "fleshy earlobe", "fleshy earlobe" ], [ "fleshy earlobes", "fleshy earlobe" ], [ "large earlobe", "large earlobe" ], [ "prominent ear lobes", "prominent ear lobe" ], [ "prominent ear lobules", "prominent ear lobule" ] ], "xref": [ "UMLS:C1844573" ], "is_a": [ "HP:0000363" ], "is_obsolete": "", "replace_id": "" }, "HP:0009751": { "name": [ "aplasia of the pectoralis major muscle", "aplasia of the pectoralis major muscle" ], "alt_id": [], "def": "Absence of the pectoralis major muscle.", "synonym": [ [ "absent pectoralis major muscle", "absent pectoralis major muscle" ] ], "xref": [ "UMLS:C4024213" ], "is_a": [ "HP:0005258", "HP:0100854" ], "is_obsolete": "", "replace_id": "" }, "HP:0009752": { "name": [ "cleft in skull base", "cleft in skull base" ], "alt_id": [], "def": "A bony defect in the skull base.", "synonym": [ [ "cleft in cranial base", "cleft in cranial base" ], [ "cleft in skull base", "cleft in skull base" ] ], "xref": [ "UMLS:C1856027" ], "is_a": [ "HP:0002693" ], "is_obsolete": "", "replace_id": "" }, "HP:0009754": { "name": [ "fibrous syngnathia", "fibrous syngnathia" ], "alt_id": [], "def": "Complete or nearly complete soft tissue fusion of the alveolar ridges.", "synonym": [ [ "alveolar synechiae", "alveolar synechiae" ], [ "fusion of the alveolar ridges", "fusion of the alveolar ridge" ] ], "xref": [ "UMLS:C4021392" ], "is_a": [ "HP:0000277", "HP:0006477" ], "is_obsolete": "", "replace_id": "" }, "HP:0009755": { "name": [ "ankyloblepharon", "ankyloblepharon" ], "alt_id": [], "def": "Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.", "synonym": [ [ "adhesion of eyelids", "adhesion of eyelid" ], [ "ankyloblepharon filiforme adnatum", "ankyloblepharon filiforme adnatum" ], [ "eyelid synechiae", "eyelid synechiae" ], [ "eyelids stuck together", "eyelid stick together" ] ], "xref": [ "MSH:C536373", "SNOMEDCT_US:193953008", "SNOMEDCT_US:400952003", "UMLS:C0339182", "UMLS:C1302999" ], "is_a": [ "HP:0000492" ], "is_obsolete": "", "replace_id": "" }, "HP:0009756": { "name": [ "popliteal pterygium", "popliteal pterygium" ], "alt_id": [], "def": "A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).", "synonym": [], "xref": [ "UMLS:C3805420" ], "is_a": [ "HP:0001059" ], "is_obsolete": "", "replace_id": "" }, "HP:0009757": { "name": [ "intercrural pterygium", "intercrural pterygium" ], "alt_id": [], "def": "A pterygium (or pterygia) in the intercrural (groin) region.", "synonym": [], "xref": [ "UMLS:C3810471" ], "is_a": [ "HP:0001059" ], "is_obsolete": "", "replace_id": "" }, "HP:0009758": { "name": [ "pyramidal skinfold extending from the base to the top of the nails", "pyramidal skinfold extend from the base to the top of the nail" ], "alt_id": [], "def": "Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.", "synonym": [], "xref": [ "UMLS:C4024212" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0009759": { "name": [ "neck pterygia", "neck pterygium" ], "alt_id": [], "def": "Pterygia affecting the neck.", "synonym": [ [ "neck pterygium", "neck pterygium" ] ], "xref": [ "UMLS:C1849577" ], "is_a": [ "HP:0001059" ], "is_obsolete": "", "replace_id": "" }, "HP:0009760": { "name": [ "antecubital pterygium", "antecubital pterygium" ], "alt_id": [], "def": "Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.", "synonym": [ [ "pterygium cubitale", "pterygium cubitale" ], [ "webbed elbow", "web elbow" ] ], "xref": [ "MSH:C566738", "UMLS:C1867439" ], "is_a": [ "HP:0001059" ], "is_obsolete": "", "replace_id": "" }, "HP:0009761": { "name": [ "anterior clefting of vertebral bodies", "anterior clefting of vertebral body" ], "alt_id": [], "def": "Anterior schisis (cleft or cleavage) of vertebral bodies.", "synonym": [], "xref": [ "UMLS:C1849579" ], "is_a": [ "HP:0008428" ], "is_obsolete": "", "replace_id": "" }, "HP:0009762": { "name": [ "facial wrinkling", "facial wrinkling" ], "alt_id": [], "def": "Excessive wrinkling of the skin of the face.", "synonym": [ [ "facial wrinkling", "facial wrinkling" ] ], "xref": [ "SNOMEDCT_US:248194004", "UMLS:C0262478" ], "is_a": [ "HP:0100678" ], "is_obsolete": "", "replace_id": "" }, "HP:0009763": { "name": [ "limb pain", "limb pain" ], "alt_id": [], "def": "Chronic pain in the limbs with no clear focal etiology.", "synonym": [ [ "limb pain", "limb pain" ], [ "pain in extremities", "pain in extremity" ] ], "xref": [ "SNOMEDCT_US:90834002", "UMLS:C0030196" ], "is_a": [ "HP:0011843", "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0009765": { "name": [ "low hanging columella", "low hang columella" ], "alt_id": [ "HP:0009766" ], "def": "Columella extending inferior to the level of the nasal base, when viewed from the side.", "synonym": [ [ "columella extends below the ala nasi", "columella extend below the ala nasi" ], [ "columella , low", "columella , low" ], [ "columella , low hanging", "columella , low hanging" ], [ "extension of the columella below the ala nasi", "extension of the columella below the ala nasi" ], [ "low - hanging columella", "low - hanging columella" ], [ "prominent columella", "prominent columella" ], [ "rounded columella", "round columella" ] ], "xref": [ "UMLS:C1856119", "UMLS:C4280395" ], "is_a": [ "HP:0009929" ], "is_obsolete": "", "replace_id": "" }, "HP:0009767": { "name": [ "aplasia / hypoplasia of the phalanges of the hand", "aplasia / hypoplasia of the phalanx of the hand" ], "alt_id": [ "HP:0006056", "HP:0006100", "HP:0009801" ], "def": "Small or missing phalangeal bones of the fingers of the hand.", "synonym": [ [ "aplastic / hypoplastic phalanges", "aplastic / hypoplastic phalanx" ], [ "aplastic / hypoplastic phalanges of the hand", "aplastic / hypoplastic phalanx of the hand" ], [ "hypoplastic / absent phalanges", "hypoplastic / absent phalanx" ] ], "xref": [ "UMLS:C1848670" ], "is_a": [ "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0009768": { "name": [ "broad phalanges of the hand", "broad phalanx of the hand" ], "alt_id": [ "HP:0001246", "HP:0006260" ], "def": "Increased width of the phalanges of the hand.", "synonym": [ [ "wide hand bones", "wide hand bone" ], [ "widening of phalanges of the hand", "widening of phalanx of the hand" ] ], "xref": [ "UMLS:C4021391" ], "is_a": [ "HP:0001500", "HP:0005918", "HP:0006009", "HP:0040070" ], "is_obsolete": "", "replace_id": "" }, "HP:0009769": { "name": [ "bullet - shaped phalanges of the hand", "bullet - shaped phalanx of the hand" ], "alt_id": [ "HP:0004270", "HP:0006139" ], "def": "The presence of short and wide phalanges which taper distally (\\\"bullet shaped\\\").", "synonym": [ [ "bullet - shaped hand bones", "bullet - shaped hand bone" ], [ "bullet - shaped phalanges of the hands", "bullet - shaped phalanx of the hand" ], [ "conical bullet - shaped distal ends of phalanges", "conical bullet - shaped distal end of phalanx" ] ], "xref": [ "UMLS:C1854952" ], "is_a": [ "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0009770": { "name": [ "curved phalanges of the hand", "curve phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "curved hand bones", "curve hand bone" ] ], "xref": [ "UMLS:C4024211" ], "is_a": [ "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0009771": { "name": [ "osteolytic defects of the phalanges of the hand", "osteolytic defect of the phalanx of the hand" ], "alt_id": [ "HP:0001179" ], "def": "Dissolution or degeneration of bone tissue of the phalanges of the hand.", "synonym": [ [ "acro - osteolysis", "acro - osteolysis" ], [ "acroosteolysis", "acroosteolysis" ], [ "breakdown of small bones of fingers", "breakdown of small bone of finger" ] ], "xref": [ "MSH:D030981", "SNOMEDCT_US:27201004", "SNOMEDCT_US:63122002", "UMLS:C0917990" ], "is_a": [ "HP:0005918", "HP:0009699" ], "is_obsolete": "", "replace_id": "" }, "HP:0009772": { "name": [ "patchy sclerosis of finger phalanx", "patchy sclerosis of finger phalanx" ], "alt_id": [ "HP:0006071" ], "def": "Uneven (irregular) increase in bone density of one or more of the phalanges of the hand.", "synonym": [ [ "patchy sclerosis of the phalanges of the hand", "patchy sclerosis of the phalanx of the hand" ], [ "phalangeal sclerosis", "phalangeal sclerosis" ], [ "uneven increase in bone density in finger bone", "uneven increase in bone density in finger bone" ] ], "xref": [ "UMLS:C1857508" ], "is_a": [ "HP:0004286", "HP:0005686", "HP:0100899" ], "is_obsolete": "", "replace_id": "" }, "HP:0009773": { "name": [ "symphalangism affecting the phalanges of the hand", "symphalangism affect the phalanx of the hand" ], "alt_id": [ "HP:0006258" ], "def": "Fusion of two or more phalangeal bones of the hand.", "synonym": [ [ "fused finger bones of the hand", "fuse finger bone of the hand" ], [ "synostosis involving phalanges of the hand", "synostosis involve phalanx of the hand" ] ], "xref": [ "UMLS:C4021390" ], "is_a": [ "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0009774": { "name": [ "triangular shaped phalanges of the hand", "triangular shape phalanx of the hand" ], "alt_id": [ "HP:0006085", "HP:0009874" ], "def": "", "synonym": [ [ "delta phalanx / delta - like phalanx", "delta phalanx / delta - like phalanx" ], [ "triangular shaped hand bones", "triangular shape hand bone" ] ], "xref": [ "UMLS:C2673397" ], "is_a": [ "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0009775": { "name": [ "amniotic constriction ring", "amniotic constriction ring" ], "alt_id": [ "HP:0001078" ], "def": "Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.", "synonym": [ [ "amniotic bands", "amniotic band" ], [ "amniotic constriction band", "amniotic constriction band" ], [ "pseudoainhum", "pseudoainhum" ] ], "xref": [ "MSH:C535821", "MSH:D000652", "SNOMEDCT_US:19988008", "SNOMEDCT_US:238879003", "UMLS:C0334166", "UMLS:C1527388" ], "is_a": [ "HP:0011409" ], "is_obsolete": "", "replace_id": "" }, "HP:0009776": { "name": [ "adactyly", "adactyly" ], "alt_id": [], "def": "The absence of all phalanges of all the digits of a limb and the associated soft tissues.", "synonym": [ [ "absent fingers or toes", "absent finger or toe" ], [ "aphalangy", "aphalangy" ] ], "xref": [ "Fyler:4173", "SNOMEDCT_US:275348004", "UMLS:C0238591", "UMLS:C4280394" ], "is_a": [ "HP:0009380", "HP:0010760" ], "is_obsolete": "", "replace_id": "" }, "HP:0009777": { "name": [ "absent thumb", "absent thumb" ], "alt_id": [ "HP:0001185", "HP:0002802", "HP:0009627" ], "def": "Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.", "synonym": [ [ "absent thumb", "absent thumb" ], [ "absent thumbs", "absent thumb" ], [ "aplasia of the thumb", "aplasia of the thumb" ], [ "thumb aplasia", "thumb aplasia" ] ], "xref": [ "UMLS:C3278811" ], "is_a": [ "HP:0009380", "HP:0009601" ], "is_obsolete": "", "replace_id": "" }, "HP:0009778": { "name": [ "short thumb", "short thumb" ], "alt_id": [ "HP:0001183", "HP:0001186", "HP:0001589", "HP:0005699", "HP:0006151", "HP:0009628" ], "def": "Hypoplasia (congenital reduction in size) of the thumb.", "synonym": [ [ "hypoplastic thumb", "hypoplastic thumb" ], [ "hypoplastic thumbs", "hypoplastic thumb" ], [ "hypoplastic / small thumb", "hypoplastic / small thumb" ], [ "short thumb", "short thumb" ], [ "short thumbs", "short thumb" ], [ "small thumbs", "small thumb" ], [ "thumb brachydactyly", "thumb brachydactyly" ], [ "thumb hypoplasia", "thumb hypoplasia" ] ], "xref": [ "MSH:C536903", "SNOMEDCT_US:253936008", "UMLS:C0431890" ], "is_a": [ "HP:0009381", "HP:0009601" ], "is_obsolete": "", "replace_id": "" }, "HP:0009779": { "name": [ "3 - 4 toe syndactyly", "3 - 4 toe syndactyly" ], "alt_id": [ "HP:0004708" ], "def": "Syndactyly with fusion of toes three and four.", "synonym": [ [ "syndactyly of 3rd - 4th toes", "syndactyly of 3rd - 4th toe" ], [ "webbed 3rd - 4th toes", "web 3rd - 4th toe" ] ], "xref": [ "UMLS:C1834062" ], "is_a": [ "HP:0001770" ], "is_obsolete": "", "replace_id": "" }, "HP:0009780": { "name": [ "iliac horns", "iliac horn" ], "alt_id": [], "def": "Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic.", "synonym": [], "xref": [ "SNOMEDCT_US:84308008", "UMLS:C0263925" ], "is_a": [ "HP:0003796" ], "is_obsolete": "", "replace_id": "" }, "HP:0009781": { "name": [ "lester 's sign", "lester 's sign" ], "alt_id": [], "def": "A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape.", "synonym": [], "xref": [ "UMLS:C4024210" ], "is_a": [ "HP:0001100" ], "is_obsolete": "", "replace_id": "" }, "HP:0009782": { "name": [ "aplasia / hypoplasia of the biceps", "aplasia / hypoplasia of the biceps" ], "alt_id": [], "def": "Absence or underdevelopment of the biceps muscle.", "synonym": [ [ "absent / small biceps", "absent / small biceps" ], [ "absent / underdeveloped biceps", "absent / underdevelop biceps" ] ], "xref": [ "UMLS:C4024209" ], "is_a": [ "HP:0001468" ], "is_obsolete": "", "replace_id": "" }, "HP:0009783": { "name": [ "biceps aplasia", "biceps aplasia" ], "alt_id": [], "def": "Absence of the biceps muscle.", "synonym": [ [ "absent biceps", "absent biceps" ] ], "xref": [ "UMLS:C3805764" ], "is_a": [ "HP:0009782", "HP:0100854" ], "is_obsolete": "", "replace_id": "" }, "HP:0009784": { "name": [ "aplasia / hypoplasia of the triceps", "aplasia / hypoplasia of the triceps" ], "alt_id": [], "def": "Absence or underdevelopment of the triceps muscle.", "synonym": [ [ "absent / small triceps", "absent / small triceps" ], [ "absent / underdeveloped triceps", "absent / underdevelop triceps" ] ], "xref": [ "UMLS:C4024208" ], "is_a": [ "HP:0001468" ], "is_obsolete": "", "replace_id": "" }, "HP:0009785": { "name": [ "triceps aplasia", "triceps aplasia" ], "alt_id": [], "def": "Absence of the triceps muscle.", "synonym": [ [ "absent triceps", "absent triceps" ] ], "xref": [ "UMLS:C3810484" ], "is_a": [ "HP:0009784", "HP:0100854" ], "is_obsolete": "", "replace_id": "" }, "HP:0009786": { "name": [ "aplasia / hypoplasia of the musculature of the thigh", "aplasia / hypoplasia of the musculature of the thigh" ], "alt_id": [], "def": "Absence or underdevelopment involving the musculature of the thigh.", "synonym": [ [ "absent / small thigh muscles", "absent / small thigh muscle" ], [ "absent / underdeveloped thigh muscles", "absent / underdevelop thigh muscle" ] ], "xref": [ "UMLS:C4024207" ], "is_a": [ "HP:0001441", "HP:0009128" ], "is_obsolete": "", "replace_id": "" }, "HP:0009787": { "name": [ "aplasia / hypoplasia of the quadriceps", "aplasia / hypoplasia of the quadriceps" ], "alt_id": [], "def": "Absence or underdevelopment of the quadriceps muscle.", "synonym": [ [ "absent / small quadriceps", "absent / small quadriceps" ], [ "absent / underdeveloped quadriceps", "absent / underdevelop quadriceps" ] ], "xref": [ "UMLS:C4024206" ], "is_a": [ "HP:0009786" ], "is_obsolete": "", "replace_id": "" }, "HP:0009788": { "name": [ "quadriceps aplasia", "quadriceps aplasia" ], "alt_id": [], "def": "Absence of the quadriceps muscle.", "synonym": [ [ "absent quads", "absent quad" ] ], "xref": [ "UMLS:C3805765" ], "is_a": [ "HP:0009787", "HP:0100854" ], "is_obsolete": "", "replace_id": "" }, "HP:0009789": { "name": [ "perianal abscess", "perianal abscess" ], "alt_id": [], "def": "The presence of an abscess located around the anus.", "synonym": [], "xref": [ "SNOMEDCT_US:82127005", "UMLS:C0031019" ], "is_a": [ "HP:0004378", "HP:0031292" ], "is_obsolete": "", "replace_id": "" }, "HP:0009790": { "name": [ "hemisacrum", "hemisacrum" ], "alt_id": [], "def": "A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5.", "synonym": [], "xref": [ "UMLS:C2677632" ], "is_a": [ "HP:0008490" ], "is_obsolete": "", "replace_id": "" }, "HP:0009791": { "name": [ "bifid sacrum", "bifid sacrum" ], "alt_id": [], "def": "Presence of a bifid sacral bone.", "synonym": [], "xref": [ "UMLS:C4024204" ], "is_a": [ "HP:0008490" ], "is_obsolete": "", "replace_id": "" }, "HP:0009792": { "name": [ "teratoma", "teratoma" ], "alt_id": [], "def": "The presence of a teratoma.", "synonym": [], "xref": [ "MSH:D013724", "NCIT:C3403", "SNOMEDCT_US:55818009", "UMLS:C0039538" ], "is_a": [ "HP:0002898", "HP:0100728" ], "is_obsolete": "", "replace_id": "" }, "HP:0009793": { "name": [ "presacral teratoma", "presacral teratoma" ], "alt_id": [], "def": "A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).", "synonym": [ [ "altman type iv sacrococcygeal teratoma", "altman type iv sacrococcygeal teratoma" ], [ "retrorectal teratoma", "retrorectal teratoma" ] ], "xref": [ "UMLS:C1867782" ], "is_a": [ "HP:0030736" ], "is_obsolete": "", "replace_id": "" }, "HP:0009794": { "name": [ "branchial anomaly", "branchial anomaly" ], "alt_id": [], "def": "Congenital developmental defect arising from the primitive branchial apparatus.", "synonym": [ [ "abnormality of branchial apparatus", "abnormality of branchial apparatus" ], [ "abnormality of branchial arch", "abnormality of branchial arch" ], [ "branchial abnormality", "branchial abnormality" ], [ "branchial anomalies", "branchial anomaly" ] ], "xref": [ "UMLS:C1862066" ], "is_a": [ "HP:0000464" ], "is_obsolete": "", "replace_id": "" }, "HP:0009795": { "name": [ "branchial fistula", "branchial fistula" ], "alt_id": [], "def": "A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.", "synonym": [ [ "branchial cleft fistula", "branchial cleft fistula" ] ], "xref": [ "SNOMEDCT_US:204268008", "UMLS:C0546968" ], "is_a": [ "HP:0009794" ], "is_obsolete": "", "replace_id": "" }, "HP:0009796": { "name": [ "branchial cyst", "branchial cyst" ], "alt_id": [], "def": "A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region.", "synonym": [ [ "branchial cleft cyst", "branchial cleft cyst" ], [ "branchial cysts", "branchial cyst" ] ], "xref": [ "MSH:D001935", "SNOMEDCT_US:42362005", "SNOMEDCT_US:59857007", "UMLS:C0006131" ], "is_a": [ "HP:0009794" ], "is_obsolete": "", "replace_id": "" }, "HP:0009797": { "name": [ "cholesteatoma", "cholesteatoma" ], "alt_id": [], "def": "Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.", "synonym": [], "xref": [ "MSH:D002781", "SNOMEDCT_US:363668000", "SNOMEDCT_US:575006", "UMLS:C0008373" ], "is_a": [ "HP:0008609", "HP:0100799" ], "is_obsolete": "", "replace_id": "" }, "HP:0009798": { "name": [ "euthyroid goiter", "euthyroid goiter" ], "alt_id": [], "def": "A goiter that is not associated with functional thyroid abnormalities.", "synonym": [ [ "euthyroid goitre", "euthyroid goitre" ] ], "xref": [ "MSH:C562732", "SNOMEDCT_US:32251000119106", "UMLS:C0302859" ], "is_a": [ "HP:0000853" ], "is_obsolete": "", "replace_id": "" }, "HP:0009799": { "name": [ "supernumerary spleens", "supernumerary spleen" ], "alt_id": [], "def": "The presence of two or more accessory spleens.", "synonym": [ [ "extra spleen", "extra spleen" ] ], "xref": [ "SNOMEDCT_US:10362008", "UMLS:C0266631" ], "is_a": [ "HP:0025408" ], "is_obsolete": "", "replace_id": "" }, "HP:0009800": { "name": [ "maternal diabetes", "maternal diabetes" ], "alt_id": [], "def": "Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes.", "synonym": [ [ "gestational diabetes", "gestational diabetes" ], [ "maternal diabetes", "maternal diabetes" ], [ "maternal hyperglycemia", "maternal hyperglycemia" ] ], "xref": [ "MSH:D016640", "SNOMEDCT_US:11687002", "UMLS:C0085207", "UMLS:C4020778" ], "is_a": [ "HP:0000819", "HP:0002686" ], "is_obsolete": "", "replace_id": "" }, "HP:0009802": { "name": [ "aplasia of the phalanges of the hand", "aplasia of the phalanx of the hand" ], "alt_id": [], "def": "Absence of one or more of the phalanges of the hand.", "synonym": [ [ "absent finger bone of the hand", "absent finger bone of the hand" ] ], "xref": [ "UMLS:C4024203", "UMLS:C4280393" ], "is_a": [ "HP:0009767", "HP:0009823" ], "is_obsolete": "", "replace_id": "" }, "HP:0009803": { "name": [ "short phalanx of finger", "short phalanx of finger" ], "alt_id": [ "HP:0001168", "HP:0005771", "HP:0006087", "HP:0006126" ], "def": "Short (hypoplastic) phalanx of finger, affecting one or more phalanges.", "synonym": [ [ "hypoplastic phalanges", "hypoplastic phalanx" ], [ "hypoplastic phalanges of hands", "hypoplastic phalanx of hand" ], [ "hypoplastic / small phalanges of the hand", "hypoplastic / small phalanx of the hand" ], [ "phalangeal hypoplasia", "phalangeal hypoplasia" ], [ "rudimentary phalanges", "rudimentary phalanx" ], [ "short finger bones", "short finger bone" ], [ "short phalanges", "short phalanx" ], [ "shortened phalanges", "shorten phalanx" ] ], "xref": [ "UMLS:C0877165" ], "is_a": [ "HP:0009767" ], "is_obsolete": "", "replace_id": "" }, "HP:0009804": { "name": [ "tooth agenesis", "tooth agenesis" ], "alt_id": [], "def": "The absence of one or more teeth from the normal series by a failure\\nto develop", "synonym": [ [ "decreased number of teeth", "decreased number of teeth" ], [ "decreased tooth count", "decrease tooth count" ], [ "dental agenesis", "dental agenesis" ], [ "failure of development of some teeth", "failure of development of some teeth" ], [ "fewer teeth than normal", "few teeth than normal" ], [ "missing some teeth", "miss some teeth" ], [ "reduced number of teeth", "reduced number of teeth" ], [ "teeth , agenesis", "teeth , agenesis" ], [ "tooth agenesis", "tooth agenesis" ] ], "xref": [ "UMLS:C4024202", "UMLS:C4083050" ], "is_a": [ "HP:0006483" ], "is_obsolete": "", "replace_id": "" }, "HP:0009805": { "name": [ "low - output congestive heart failure", "low - output congestive heart failure" ], "alt_id": [], "def": "A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes.", "synonym": [], "xref": [ "UMLS:C4024201" ], "is_a": [ "HP:0001635" ], "is_obsolete": "", "replace_id": "" }, "HP:0009806": { "name": [ "nephrogenic diabetes insipidus", "nephrogenic diabetes insipidus" ], "alt_id": [], "def": "A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP).", "synonym": [], "xref": [ "MSH:D018500", "SNOMEDCT_US:111395007", "UMLS:C0162283" ], "is_a": [ "HP:0000873" ], "is_obsolete": "", "replace_id": "" }, "HP:0009808": { "name": [ "anomaly of the upper limb diaphyses", "anomaly of the upper limb diaphysis" ], "alt_id": [ "HP:0003857" ], "def": "A structural abnormality of a diaphysis of the arm.", "synonym": [ [ "abnormality involving the diaphyses of the upper limbs", "abnormality involve the diaphysis of the upper limb" ], [ "abnormality of shaft of long bone of the upper limbs", "abnormality of shaft of long bone of the upper limb" ], [ "diaphyseal abnormality of the upper limbs", "diaphyseal abnormality of the upper limb" ] ], "xref": [ "UMLS:C4021389" ], "is_a": [ "HP:0000940", "HP:0002817" ], "is_obsolete": "", "replace_id": "" }, "HP:0009809": { "name": [ "abnormality of upper limb metaphysis", "abnormality of upper limb metaphysis" ], "alt_id": [ "HP:0003847" ], "def": "An anomaly of one or more metaphyses of the arms.", "synonym": [ [ "abnormality of the wide portion of upper limb bone", "abnormality of the wide portion of upper limb bone" ], [ "metaphyseal abnormality of the upper limbs", "metaphyseal abnormality of the upper limb" ] ], "xref": [ "UMLS:C4021388" ], "is_a": [ "HP:0000944", "HP:0002817" ], "is_obsolete": "", "replace_id": "" }, "HP:0009810": { "name": [ "abnormality of upper limb joint", "abnormality of upper limb joint" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the joints of the upper limbs", "abnormality of the joint of the upper limb" ], [ "abnormality of upper limb joint", "abnormality of upper limb joint" ] ], "xref": [ "UMLS:C4021387" ], "is_a": [ "HP:0001367", "HP:0002817" ], "is_obsolete": "", "replace_id": "" }, "HP:0009811": { "name": [ "abnormality of the elbow", "abnormality of the elbow" ], "alt_id": [ "HP:0002966" ], "def": "An anomaly of the joint that connects the upper and the lower arm.", "synonym": [ [ "abnormality of the elbow", "abnormality of the elbow" ], [ "abnormality of the elbows", "abnormality of the elbow" ] ], "xref": [ "UMLS:C4021386" ], "is_a": [ "HP:0009810" ], "is_obsolete": "", "replace_id": "" }, "HP:0009812": { "name": [ "amelia involving the upper limbs", "amelia involve the upper limb" ], "alt_id": [], "def": "Amelia of one or both upper limbs.", "synonym": [], "xref": [ "UMLS:C4024200" ], "is_a": [ "HP:0006496", "HP:0009827" ], "is_obsolete": "", "replace_id": "" }, "HP:0009813": { "name": [ "upper limb phocomelia", "upper limb phocomelia" ], "alt_id": [], "def": "Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).", "synonym": [], "xref": [ "SNOMEDCT_US:253926000", "UMLS:C0265573" ], "is_a": [ "HP:0006496", "HP:0009829" ], "is_obsolete": "", "replace_id": "" }, "HP:0009814": { "name": [ "upper limb peromelia", "upper limb peromelia" ], "alt_id": [], "def": "Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation.", "synonym": [], "xref": [ "UMLS:C4024199" ], "is_a": [ "HP:0006496", "HP:0009828" ], "is_obsolete": "", "replace_id": "" }, "HP:0009815": { "name": [ "aplasia / hypoplasia of the extremities", "aplasia / hypoplasia of the extremity" ], "alt_id": [ "HP:0002969", "HP:0006497" ], "def": "Absence (due to failure to form) or underdevelopment of the extremities.", "synonym": [ [ "absent / small extremities", "absent / small extremity" ], [ "absent / underdeveloped extremities", "absent / underdevelop extremity" ], [ "short or absent limbs", "short or absent limb" ], [ "shortened limbs", "shorten limb" ] ], "xref": [ "UMLS:C0239399" ], "is_a": [ "HP:0009115", "HP:0040064" ], "is_obsolete": "", "replace_id": "" }, "HP:0009816": { "name": [ "lower limb undergrowth", "low limb undergrowth" ], "alt_id": [ "HP:0003087", "HP:0005884", "HP:0006399" ], "def": "Leg shortening because of underdevelopment of one or more bones of the lower extremity.", "synonym": [ [ "hypoplasia involving bones of the lower limbs", "hypoplasia involve bone of the low limb" ], [ "hypoplasia of the lower limbs", "hypoplasia of the low limb" ], [ "lower limb undergrowth", "low limb undergrowth" ], [ "underdeveloped lower limb bones", "underdeveloped low limb bone" ] ], "xref": [ "SNOMEDCT_US:253959002", "UMLS:C0345371" ], "is_a": [ "HP:0006493", "HP:0009826" ], "is_obsolete": "", "replace_id": "" }, "HP:0009817": { "name": [ "aplasia involving bones of the lower limbs", "aplasia involve bone of the low limb" ], "alt_id": [], "def": "", "synonym": [ [ "absent bones of the lower limbs", "absent bone of the low limb" ] ], "xref": [ "UMLS:C4024198" ], "is_a": [ "HP:0006493", "HP:0009825" ], "is_obsolete": "", "replace_id": "" }, "HP:0009818": { "name": [ "amelia involving the lower limbs", "amelia involve the low limb" ], "alt_id": [], "def": "Amelia of one or both legs.", "synonym": [], "xref": [ "UMLS:C4024197" ], "is_a": [ "HP:0006493", "HP:0009827" ], "is_obsolete": "", "replace_id": "" }, "HP:0009819": { "name": [ "lower limb phocomelia", "low limb phocomelia" ], "alt_id": [], "def": "Phocomelia affecting only the lower limbs.", "synonym": [], "xref": [ "SNOMEDCT_US:253963009", "UMLS:C0265625" ], "is_a": [ "HP:0006493", "HP:0009829" ], "is_obsolete": "", "replace_id": "" }, "HP:0009820": { "name": [ "lower limb peromelia", "low limb peromelia" ], "alt_id": [], "def": "Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.", "synonym": [], "xref": [ "UMLS:C4024196" ], "is_a": [ "HP:0006494", "HP:0009828" ], "is_obsolete": "", "replace_id": "" }, "HP:0009821": { "name": [ "forearm undergrowth", "forearm undergrowth" ], "alt_id": [ "HP:0003024", "HP:0003968", "HP:0006405" ], "def": "Forearm shortening because of underdevelopment of one or more bones of the forearm.", "synonym": [ [ "forearm undergrowth", "forearm undergrowth" ], [ "hypoplasia involving forearm bones", "hypoplasia involve forearm bone" ], [ "short forearm bones", "short forearm bone" ], [ "short forearms", "short forearm" ], [ "shortened forearm", "shorten forearm" ] ], "xref": [ "UMLS:C1855299" ], "is_a": [ "HP:0003026", "HP:0006503", "HP:0009824" ], "is_obsolete": "", "replace_id": "" }, "HP:0009822": { "name": [ "aplasia involving forearm bones", "aplasia involve forearm bone" ], "alt_id": [], "def": "", "synonym": [ [ "absent forearm bones", "absent forearm bone" ] ], "xref": [ "UMLS:C4024195" ], "is_a": [ "HP:0006503" ], "is_obsolete": "", "replace_id": "" }, "HP:0009823": { "name": [ "aplasia involving bones of the upper limbs", "aplasia involve bone of the upper limb" ], "alt_id": [], "def": "", "synonym": [ [ "absent bones of the upper limbs", "absent bone of the upper limb" ] ], "xref": [ "UMLS:C4024194" ], "is_a": [ "HP:0006496", "HP:0009825" ], "is_obsolete": "", "replace_id": "" }, "HP:0009824": { "name": [ "upper limb undergrowth", "upper limb undergrowth" ], "alt_id": [ "HP:0003056", "HP:0006364" ], "def": "Arm shortening because of underdevelopment of one or more bones of the upper extremity.", "synonym": [ [ "hypoplasia involving bones of the upper limbs", "hypoplasia involve bone of the upper limb" ], [ "short arms", "short arm" ], [ "shortening of the arms", "shortening of the arm" ], [ "upper limb undergrowth", "upper limb undergrowth" ] ], "xref": [ "UMLS:C1837406" ], "is_a": [ "HP:0006496", "HP:0009826" ], "is_obsolete": "", "replace_id": "" }, "HP:0009825": { "name": [ "aplasia involving bones of the extremities", "aplasia involve bone of the extremity" ], "alt_id": [], "def": "", "synonym": [ [ "absent bones of the extremities", "absent bone of the extremity" ] ], "xref": [ "UMLS:C4024193" ], "is_a": [ "HP:0045060" ], "is_obsolete": "", "replace_id": "" }, "HP:0009826": { "name": [ "limb undergrowth", "limb undergrowth" ], "alt_id": [ "HP:0003058", "HP:0005049", "HP:0005057" ], "def": "Limb shortening because of underdevelopment of one or more bones of the extremities.", "synonym": [ [ "hypoplasia involving bones of the extremities", "hypoplasia involve bone of the extremity" ], [ "limb shortening", "limb shorten" ], [ "limb undergrowth", "limb undergrowth" ], [ "short limb", "short limb" ], [ "short limbs", "short limb" ] ], "xref": [ "UMLS:C0239399" ], "is_a": [ "HP:0009815" ], "is_obsolete": "", "replace_id": "" }, "HP:0009827": { "name": [ "amelia", "amelia" ], "alt_id": [], "def": "Congenital absence (aplasia) of one or more limbs.", "synonym": [], "xref": [ "MEDDRA:10001926 \"Amelia\"", "MSH:D004480", "SNOMEDCT_US:62588002", "UMLS:C0002447" ], "is_a": [ "HP:0009815" ], "is_obsolete": "", "replace_id": "" }, "HP:0009828": { "name": [ "peromelia", "peromelia" ], "alt_id": [], "def": "The distal parts of the limbs are missing leading to a stump formation.", "synonym": [], "xref": [ "UMLS:C4024192" ], "is_a": [ "HP:0009815" ], "is_obsolete": "", "replace_id": "" }, "HP:0009829": { "name": [ "phocomelia", "phocomelia" ], "alt_id": [ "HP:0002994" ], "def": "Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).", "synonym": [], "xref": [ "MEDDRA:10034923 \"Phocomelia\"", "MSH:D004480", "SNOMEDCT_US:22841008", "UMLS:C0031575" ], "is_a": [ "HP:0009815", "HP:0011314" ], "is_obsolete": "", "replace_id": "" }, "HP:0009830": { "name": [ "peripheral neuropathy", "peripheral neuropathy" ], "alt_id": [ "HP:0003157", "HP:0003407", "HP:0007088", "HP:0007235", "HP:0007355" ], "def": "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.", "synonym": [ [ "neuropathy", "neuropathy" ], [ "peripheral nerve damage", "peripheral nerve damage" ], [ "peripheral neuritis", "peripheral neuritis" ] ], "xref": [ "MSH:D010523", "SNOMEDCT_US:302226006", "SNOMEDCT_US:386033004", "SNOMEDCT_US:42658009", "UMLS:C0031117", "UMLS:C0442874" ], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0009831": { "name": [ "mononeuropathy", "mononeuropathy" ], "alt_id": [], "def": "A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution.", "synonym": [ [ "single damaged nerve", "single damage nerve" ] ], "xref": [ "MSH:D020422", "SNOMEDCT_US:128189008", "UMLS:C0494491" ], "is_a": [ "HP:0009830" ], "is_obsolete": "", "replace_id": "" }, "HP:0009832": { "name": [ "abnormal distal phalanx morphology of finger", "abnormal distal phalanx morphology of finger" ], "alt_id": [ "HP:0005919" ], "def": "Any anomaly of distal phalanx of finger.", "synonym": [ [ "abnormal terminal phalanges of the hand", "abnormal terminal phalanx of the hand" ], [ "abnormality of the distal phalanges of the hand", "abnormality of the distal phalanx of the hand" ], [ "abnormality of the distal phalanx of finger", "abnormality of the distal phalanx of finger" ], [ "abnormality of the outermost finger bone", "abnormality of the outermost finger bone" ] ], "xref": [ "UMLS:C4021385" ], "is_a": [ "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0009833": { "name": [ "abnormal middle phalanx morphology of the hand", "abnormal middle phalanx morphology of the hand" ], "alt_id": [], "def": "An anomaly of middle phalanx of finger.", "synonym": [ [ "abnormality of the middle finger bones of the hand", "abnormality of the middle finger bone of the hand" ], [ "abnormality of the middle phalanges of the hand", "abnormality of the middle phalanx of the hand" ] ], "xref": [ "UMLS:C4024191" ], "is_a": [ "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0009834": { "name": [ "abnormal proximal phalanx morphology of the hand", "abnormal proximal phalanx morphology of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the innermost finger bones of the hand", "abnormality of the innermost finger bone of the hand" ], [ "abnormality of the proximal phalanges of the hand", "abnormality of the proximal phalanx of the hand" ] ], "xref": [ "UMLS:C4024190" ], "is_a": [ "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0009835": { "name": [ "aplasia / hypoplasia of the distal phalanges of the hand", "aplasia / hypoplasia of the distal phalanx of the hand" ], "alt_id": [ "HP:0005635", "HP:0006037", "HP:0006066", "HP:0006235" ], "def": "Absence or underdevelopment of the distal phalanges.", "synonym": [ [ "absent / hypoplastic distal phalanges", "absent / hypoplastic distal phalanx" ], [ "absent / small outermost finger bone of the hand", "absent / small outermost finger bone of the hand" ], [ "absent / underdeveloped outermost finger bone of the hand", "absent / underdevelop outermost finger bone of the hand" ], [ "aplasia / hypoplasia of the distal phalanges", "aplasia / hypoplasia of the distal phalanx" ], [ "aplastic / hypoplastic distal phalanges", "aplastic / hypoplastic distal phalanx" ], [ "hypoplastic to absent terminal phalanges", "hypoplastic to absent terminal phalanx" ], [ "hypoplastic / aplastic distal phalanges", "hypoplastic / aplastic distal phalanx" ], [ "hypoplastic / aplastic distal phalanx", "hypoplastic / aplastic distal phalanx" ], [ "small or absent distal phalanges", "small or absent distal phalanx" ] ], "xref": [ "UMLS:C1861336" ], "is_a": [ "HP:0009767", "HP:0009832" ], "is_obsolete": "", "replace_id": "" }, "HP:0009836": { "name": [ "broad distal phalanx of finger", "broad distal phalanx of finger" ], "alt_id": [ "HP:0003120", "HP:0006113", "HP:0006197", "HP:0006241", "HP:0009859" ], "def": "Abnormally wide (broad) distal phalanx of finger.", "synonym": [ [ "broad distal phalanges", "broad distal phalanx" ], [ "broad distal phalanges of the hand", "broad distal phalanx of the hand" ], [ "broad distal phalanx", "broad distal phalanx" ], [ "broad outermost finger bone", "broad outermost finger bone" ], [ "broad terminal phalanges", "broad terminal phalanx" ], [ "broad , square ends of distal phalanges", "broad , square end of distal phalanx" ], [ "spatulate terminal phalanges", "spatulate terminal phalanx" ] ], "xref": [ "UMLS:C1850630" ], "is_a": [ "HP:0009768", "HP:0009832" ], "is_obsolete": "", "replace_id": "" }, "HP:0009837": { "name": [ "bullet - shaped distal phalanges of the hand", "bullet - shaped distal phalanx of the hand" ], "alt_id": [ "HP:0009860" ], "def": "Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped outermost finger bone of the hand", "bullet - shape outermost finger bone of the hand" ] ], "xref": [ "UMLS:C4024189" ], "is_a": [ "HP:0009769", "HP:0009832" ], "is_obsolete": "", "replace_id": "" }, "HP:0009838": { "name": [ "curved distal phalanges of the hand", "curve distal phalanx of the hand" ], "alt_id": [ "HP:0009862" ], "def": "", "synonym": [ [ "curved outermost finger bone of the hand", "curve outermost finger bone of the hand" ] ], "xref": [ "UMLS:C4024188" ], "is_a": [ "HP:0009770", "HP:0009832" ], "is_obsolete": "", "replace_id": "" }, "HP:0009839": { "name": [ "osteolytic defects of the distal phalanges of the hand", "osteolytic defect of the distal phalanx of the hand" ], "alt_id": [ "HP:0001219", "HP:0009865" ], "def": "", "synonym": [ [ "acro - osteolysis of distal phalanges", "acro - osteolysis of distal phalanx" ], [ "acroosteolysis of distal phalanges", "acroosteolysis of distal phalanx" ], [ "osteolytic defects of the outermost finger bone of the hand", "osteolytic defect of the outermost finger bone of the hand" ] ], "xref": [ "UMLS:C1849547" ], "is_a": [ "HP:0009771", "HP:0009832" ], "is_obsolete": "", "replace_id": "" }, "HP:0009840": { "name": [ "patchy sclerosis of distal phalanx of finger", "patchy sclerosis of distal phalanx of finger" ], "alt_id": [ "HP:0009868" ], "def": "Uneven (irregular) increase in bone density of the distal phalanges of the hand.", "synonym": [ [ "patchy sclerosis of the distal phalanges of the hand", "patchy sclerosis of the distal phalanx of the hand" ], [ "uneven increase in bone density in outermost finger bone", "uneven increase in bone density in outermost finger bone" ] ], "xref": [ "UMLS:C4021384" ], "is_a": [ "HP:0009772", "HP:0100915" ], "is_obsolete": "", "replace_id": "" }, "HP:0009843": { "name": [ "aplasia / hypoplasia of the middle phalanges of the hand", "aplasia / hypoplasia of the middle phalanx of the hand" ], "alt_id": [ "HP:0005810", "HP:0006063", "HP:0006148" ], "def": "", "synonym": [ [ "absent / hypoplastic middle phalanges", "absent / hypoplastic middle phalanx" ], [ "absent / small middle finger bone of the hand", "absent / small middle finger bone of the hand" ], [ "absent / underdeveloped middle finger bone of the hand", "absent / underdevelop middle finger bone of the hand" ], [ "aplasia / hypoplasia of middle phalanges", "aplasia / hypoplasia of middle phalanx" ], [ "aplastic / hypoplastic middle phalanges", "aplastic / hypoplastic middle phalanx" ], [ "hypoplastic / aplastic middle phalanx", "hypoplastic / aplastic middle phalanx" ], [ "short to absent middle phalanges", "short to absent middle phalanx" ], [ "short / absent middle phalanges", "short / absent middle phalanx" ] ], "xref": [ "UMLS:C1862152" ], "is_a": [ "HP:0009767", "HP:0009833" ], "is_obsolete": "", "replace_id": "" }, "HP:0009844": { "name": [ "broad middle phalanx of finger", "broad middle phalanx of finger" ], "alt_id": [], "def": "Increased width of the middle phalanx of finger.", "synonym": [ [ "broad middle finger bones", "broad middle finger bone" ], [ "broad middle phalanges of finger", "broad middle phalanx of finger" ], [ "broad middle phalanges of the hand", "broad middle phalanx of the hand" ] ], "xref": [ "UMLS:C4021383" ], "is_a": [ "HP:0009768", "HP:0009833" ], "is_obsolete": "", "replace_id": "" }, "HP:0009845": { "name": [ "bullet - shaped middle phalanges of the hand", "bullet - shape middle phalanx of the hand" ], "alt_id": [ "HP:0006038" ], "def": "Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [], "xref": [ "UMLS:C4024187" ], "is_a": [ "HP:0009769", "HP:0009833" ], "is_obsolete": "", "replace_id": "" }, "HP:0009846": { "name": [ "curved middle phalanges of the hand", "curve middle phalanx of the hand" ], "alt_id": [ "HP:0009863" ], "def": "", "synonym": [ [ "curved middle finger bonds of the hand", "curve middle finger bond of the hand" ] ], "xref": [ "UMLS:C4024186" ], "is_a": [ "HP:0009770", "HP:0009833" ], "is_obsolete": "", "replace_id": "" }, "HP:0009847": { "name": [ "osteolytic defects of the middle phalanges of the hand", "osteolytic defect of the middle phalanx of the hand" ], "alt_id": [ "HP:0009866" ], "def": "", "synonym": [], "xref": [ "UMLS:C4024185" ], "is_a": [ "HP:0009771", "HP:0009833" ], "is_obsolete": "", "replace_id": "" }, "HP:0009848": { "name": [ "patchy sclerosis of middle phalanx of finger", "patchy sclerosis of middle phalanx of finger" ], "alt_id": [ "HP:0009870" ], "def": "Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand.", "synonym": [ [ "patchy sclerosis of the middle phalanges of the hand", "patchy sclerosis of the middle phalanx of the hand" ], [ "uneven increase in bone density in the middle finger bones of the hand", "uneven increase in bone density in the middle finger bone of the hand" ] ], "xref": [ "UMLS:C4021382" ], "is_a": [ "HP:0009772", "HP:0100916" ], "is_obsolete": "", "replace_id": "" }, "HP:0009849": { "name": [ "symphalangism of middle phalanx of finger", "symphalangism of middle phalanx of finger" ], "alt_id": [ "HP:0009872" ], "def": "Fusion of a middle phalanx of a finger with another bone.", "synonym": [ [ "fused middle finger bone", "fuse middle finger bone" ] ], "xref": [ "UMLS:C4024184" ], "is_a": [ "HP:0009773", "HP:0009833" ], "is_obsolete": "", "replace_id": "" }, "HP:0009850": { "name": [ "triangular shaped middle phalanges of the hand", "triangular shape middle phalanx of the hand" ], "alt_id": [ "HP:0009876" ], "def": "", "synonym": [ [ "triangular shaped middle finger bones of the hand", "triangular shape middle finger bone of the hand" ] ], "xref": [ "UMLS:C4024183" ], "is_a": [ "HP:0009774", "HP:0009833" ], "is_obsolete": "", "replace_id": "" }, "HP:0009851": { "name": [ "aplasia / hypoplasia of the proximal phalanges of the hand", "aplasia / hypoplasia of the proximal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small innermost finger bones of the hand", "absent / small innermost finger bone of the hand" ], [ "absent / underdeveloped innermost finger bones of the hand", "absent / underdevelop innermost finger bone of the hand" ] ], "xref": [ "UMLS:C4024182" ], "is_a": [ "HP:0009767", "HP:0009834" ], "is_obsolete": "", "replace_id": "" }, "HP:0009852": { "name": [ "broad proximal phalanges of the hand", "broad proximal phalanx of the hand" ], "alt_id": [ "HP:0006168" ], "def": "Increased width of the proximal phalanges of the finger.", "synonym": [ [ "broad innermost finger bones of the hand", "broad innermost finger bone of the hand" ], [ "wide innermost finger bones of the hand", "wide innermost finger bone of the hand" ] ], "xref": [ "UMLS:C4024181" ], "is_a": [ "HP:0009768", "HP:0009834" ], "is_obsolete": "", "replace_id": "" }, "HP:0009853": { "name": [ "bullet - shaped proximal phalanges of the hand", "bullet - shape proximal phalanx of the hand" ], "alt_id": [ "HP:0009861" ], "def": "Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped innermost finger bones of the hand", "bullet - shape innermost finger bone of the hand" ] ], "xref": [ "UMLS:C4024180" ], "is_a": [ "HP:0009769", "HP:0009834" ], "is_obsolete": "", "replace_id": "" }, "HP:0009854": { "name": [ "curved proximal phalanges of the hand", "curve proximal phalanx of the hand" ], "alt_id": [ "HP:0009864" ], "def": "", "synonym": [ [ "curved innermost finger bones of the hand", "curve innermost finger bone of the hand" ] ], "xref": [ "UMLS:C4024179" ], "is_a": [ "HP:0009770", "HP:0009834" ], "is_obsolete": "", "replace_id": "" }, "HP:0009855": { "name": [ "osteolytic defects of the proximal phalanges of the hand", "osteolytic defect of the proximal phalanx of the hand" ], "alt_id": [ "HP:0006050", "HP:0009867" ], "def": "", "synonym": [ [ "proximal phalanges osteolysis", "proximal phalanx osteolysis" ] ], "xref": [ "UMLS:C1850148" ], "is_a": [ "HP:0009771", "HP:0009834" ], "is_obsolete": "", "replace_id": "" }, "HP:0009856": { "name": [ "patchy sclerosis of proximal phalanx of finger", "patchy sclerosis of proximal phalanx of finger" ], "alt_id": [ "HP:0009869" ], "def": "Uneven increase in bone density of the proximal phalanges of the hand.", "synonym": [ [ "patchy sclerosis of the proximal phalanges of the hand", "patchy sclerosis of the proximal phalanx of the hand" ], [ "uneven increase in bone density in innermost finger bone", "uneven increase in bone density in innermost finger bone" ] ], "xref": [ "UMLS:C4021381" ], "is_a": [ "HP:0009772", "HP:0100917" ], "is_obsolete": "", "replace_id": "" }, "HP:0009857": { "name": [ "symphalangism affecting the proximal phalanges of the hand", "symphalangism affect the proximal phalanx of the hand" ], "alt_id": [ "HP:0009873" ], "def": "", "synonym": [ [ "fused innermost hand bones", "fuse innermost hand bone" ] ], "xref": [ "UMLS:C4024178" ], "is_a": [ "HP:0009773", "HP:0009834" ], "is_obsolete": "", "replace_id": "" }, "HP:0009858": { "name": [ "triangular shaped proximal phalanges of the hand", "triangular shape proximal phalanx of the hand" ], "alt_id": [ "HP:0009877" ], "def": "", "synonym": [ [ "triangular shaped innermost finger bone", "triangular shape innermost finger bone" ] ], "xref": [ "UMLS:C4024177" ], "is_a": [ "HP:0009774", "HP:0009834" ], "is_obsolete": "", "replace_id": "" }, "HP:0009875": { "name": [ "triangular shaped distal phalanges of the hand", "triangular shape distal phalanx of the hand" ], "alt_id": [ "HP:0006061", "HP:0009842" ], "def": "", "synonym": [ [ "triangular shaped outermost bone of the hand", "triangular shape outermost bone of the hand" ] ], "xref": [ "UMLS:C4024176" ], "is_a": [ "HP:0009774", "HP:0009832" ], "is_obsolete": "", "replace_id": "" }, "HP:0009878": { "name": [ "cerebellar ataxia associated with quadrupedal gait", "cerebellar ataxia associate with quadrupedal gait" ], "alt_id": [], "def": "The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight).", "synonym": [], "xref": [ "UMLS:C4024175" ], "is_a": [ "HP:0001251", "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0009879": { "name": [ "simplified gyral pattern", "simplify gyral pattern" ], "alt_id": [], "def": "An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.", "synonym": [ [ "cortical gyral simplification", "cortical gyral simplification" ] ], "xref": [ "UMLS:C2749675" ], "is_a": [ "HP:0002536" ], "is_obsolete": "", "replace_id": "" }, "HP:0009880": { "name": [ "broad distal phalanges of all fingers", "broad distal phalanx of all finger" ], "alt_id": [ "HP:0005816" ], "def": "Abnormally wide (broad) distal phalanx of finger of all fingers.", "synonym": [ [ "broad outermost hand bones", "broad outermost hand bone" ] ], "xref": [ "UMLS:C4024174" ], "is_a": [ "HP:0009836" ], "is_obsolete": "", "replace_id": "" }, "HP:0009881": { "name": [ "aplasia of the distal phalanges of the hand", "aplasia of the distal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "absent distal phalanges of the hand", "absent distal phalanx of the hand" ], [ "absent outermost hand bone", "absent outermost hand bone" ], [ "aplasia of outermost hand bone", "aplasia of outermost hand bone" ] ], "xref": [ "UMLS:C4024173" ], "is_a": [ "HP:0009380", "HP:0009802", "HP:0009835" ], "is_obsolete": "", "replace_id": "" }, "HP:0009882": { "name": [ "short distal phalanx of finger", "short distal phalanx of finger" ], "alt_id": [ "HP:0001198", "HP:0001202", "HP:0001221", "HP:0001229", "HP:0005669", "HP:0006075", "HP:0006076", "HP:0006132", "HP:0006199", "HP:0006223" ], "def": "Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.", "synonym": [ [ "brachytelophalangy", "brachytelophalangy" ], [ "distal phalangeal hypoplasia", "distal phalangeal hypoplasia" ], [ "hypoplasia of the distal phalanges", "hypoplasia of the distal phalanx" ], [ "hypoplasia of the distal phalanges of the hand", "hypoplasia of the distal phalanx of the hand" ], [ "hypoplasic terminal phalanges", "hypoplasic terminal phalanx" ], [ "hypoplastic distal phalanges", "hypoplastic distal phalanx" ], [ "hypoplastic terminal phalanges", "hypoplastic terminal phalanx" ], [ "short distal phalanges", "short distal phalanx" ], [ "short outermost finger bone", "short outermost finger bone" ], [ "terminal phalangeal hypoplasia of hand", "terminal phalangeal hypoplasia of hand" ] ], "xref": [ "UMLS:C1839829" ], "is_a": [ "HP:0009381", "HP:0009803", "HP:0009835" ], "is_obsolete": "", "replace_id": "" }, "HP:0009883": { "name": [ "duplication of the distal phalanx of hand", "duplication of the distal phalanx of hand" ], "alt_id": [ "HP:0001228", "HP:0010007" ], "def": "This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.", "synonym": [ [ "bifid terminal phalanges", "bifid terminal phalanx" ], [ "duplication of the outermost bone of hand", "duplication of the outermost bone of hand" ], [ "notched outermost bone of hand", "notch outermost bone of hand" ], [ "partial / complete duplication of the distal phalanges of the hand", "partial / complete duplication of the distal phalanx of the hand" ] ], "xref": [ "UMLS:C1849343" ], "is_a": [ "HP:0009832", "HP:0009997" ], "is_obsolete": "", "replace_id": "" }, "HP:0009884": { "name": [ "tapered distal phalanges of finger", "taper distal phalanx of finger" ], "alt_id": [ "HP:0006052" ], "def": "A reduction in diameter of the distal phalanx of finger towards the distal end.", "synonym": [ [ "tapered distal phalanges", "taper distal phalanx" ], [ "tapered distal phalanges of the hand", "taper distal phalanx of the hand" ], [ "tapered outermost finger bone", "taper outermost finger bone" ] ], "xref": [ "UMLS:C1969237" ], "is_a": [ "HP:0009832" ], "is_obsolete": "", "replace_id": "" }, "HP:0009885": { "name": [ "obsolete prenatal short stature", "obsolete prenatal short stature" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0009886": { "name": [ "trichorrhexis nodosa", "trichorrhexis nodosa" ], "alt_id": [], "def": "Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.", "synonym": [], "xref": [ "SNOMEDCT_US:22486004", "SNOMEDCT_US:238736006", "UMLS:C0263485" ], "is_a": [ "HP:0003328" ], "is_obsolete": "", "replace_id": "" }, "HP:0009887": { "name": [ "abnormality of hair pigmentation", "abnormality of hair pigmentation" ], "alt_id": [], "def": "An abnormality of hair pigmentation (color).", "synonym": [ [ "abnormality of hair color", "abnormality of hair color" ], [ "abnormality of hair colour", "abnormality of hair colour" ], [ "abnormality of hair pigmentation", "abnormality of hair pigmentation" ] ], "xref": [ "UMLS:C4024172" ], "is_a": [ "HP:0001595" ], "is_obsolete": "", "replace_id": "" }, "HP:0009888": { "name": [ "abnormality of secondary sexual hair", "abnormality of secondary sexual hair" ], "alt_id": [], "def": "Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.", "synonym": [ [ "abnormality of secondary sexual hair", "abnormality of secondary sexual hair" ] ], "xref": [ "UMLS:C4024171" ], "is_a": [ "HP:0001595" ], "is_obsolete": "", "replace_id": "" }, "HP:0009889": { "name": [ "localized hirsutism", "localize hirsutism" ], "alt_id": [], "def": "Abnormally increased hair growth with a localized distribution.", "synonym": [ [ "localised abnormal hair growth", "localise abnormal hair growth" ], [ "localised hirsutism", "localise hirsutism" ], [ "localized abnormal hair growth", "localize abnormal hair growth" ] ], "xref": [ "UMLS:C4024170" ], "is_a": [ "HP:0001007" ], "is_obsolete": "", "replace_id": "" }, "HP:0009890": { "name": [ "high anterior hairline", "high anterior hairline" ], "alt_id": [], "def": "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.", "synonym": [ [ "high frontal hairline", "high frontal hairline" ] ], "xref": [ "UMLS:C3276036" ], "is_a": [ "HP:0000599" ], "is_obsolete": "", "replace_id": "" }, "HP:0009891": { "name": [ "underdeveloped supraorbital ridges", "underdeveloped supraorbital ridge" ], "alt_id": [ "HP:0004667", "HP:0004672", "HP:0005337" ], "def": "Flatness of the supraorbital portion of the frontal bones.", "synonym": [ [ "depressed supraorbital margins", "depressed supraorbital margin" ], [ "depressed supraorbital ridge", "depressed supraorbital ridge" ], [ "flat supraorbital margins", "flat supraorbital margin" ], [ "flat supraorbital ridge", "flat supraorbital ridge" ], [ "flattened bony protrusion above eyes", "flatten bony protrusion above eye" ], [ "hypoplasia of supraorbital margins", "hypoplasia of supraorbital margin" ], [ "hypoplasia of the supraorbital ridges", "hypoplasia of the supraorbital ridge" ], [ "hypoplastic supraorbital ridges", "hypoplastic supraorbital ridge" ], [ "shallow orbital ridges", "shallow orbital ridge" ], [ "shallow supraorbital ridge", "shallow supraorbital ridge" ], [ "underdeveloped brows", "underdeveloped brow" ] ], "xref": [ "UMLS:C1861869", "UMLS:C4020777" ], "is_a": [ "HP:0100538" ], "is_obsolete": "", "replace_id": "" }, "HP:0009892": { "name": [ "anotia", "anotia" ], "alt_id": [], "def": "Complete absence of any auricular structures.", "synonym": [ [ "absent ear", "absent ear" ], [ "absent ears", "absent ear" ], [ "congenital absence of external ear", "congenital absence of external ear" ] ], "xref": [ "MSH:D065817", "SNOMEDCT_US:57436000", "UMLS:C0702139", "UMLS:C1408788" ], "is_a": [ "HP:0008772" ], "is_obsolete": "", "replace_id": "" }, "HP:0009893": { "name": [ "telangiectasia of the ear", "telangiectasia of the ear" ], "alt_id": [], "def": "The presence of telangiectasia of the ear.", "synonym": [], "xref": [ "UMLS:C4024169" ], "is_a": [ "HP:0000356", "HP:0100585" ], "is_obsolete": "", "replace_id": "" }, "HP:0009894": { "name": [ "thickened ears", "thickened ear" ], "alt_id": [], "def": "Increased thickness of the external ear.", "synonym": [ [ "thickened ears", "thickened ear" ] ], "xref": [ "UMLS:C4024168" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0009895": { "name": [ "abnormality of the crus of the helix", "abnormality of the crus of the helix" ], "alt_id": [], "def": "An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear.", "synonym": [ [ "abnormality of the crus of the ear", "abnormality of the crus of the ear" ] ], "xref": [ "UMLS:C4021380" ], "is_a": [ "HP:0011039", "HP:3000022" ], "is_obsolete": "", "replace_id": "" }, "HP:0009896": { "name": [ "abnormality of the antitragus", "abnormality of the antitragus" ], "alt_id": [], "def": "An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch.", "synonym": [], "xref": [ "UMLS:C4024167" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0009897": { "name": [ "horizontal crus of helix", "horizontal crus of helix" ], "alt_id": [], "def": "An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly.", "synonym": [ [ "helix , crus , horizontal", "helix , crus , horizontal" ], [ "horizontal orientation of the crus of helix", "horizontal orientation of the crus of helix" ], [ "horizontal orientation of the ear crus", "horizontal orientation of the ear crus" ], [ "railroad track ears", "railroad track ear" ], [ "railroad track sign", "railroad track sign" ] ], "xref": [ "UMLS:C4021379" ], "is_a": [ "HP:0009895" ], "is_obsolete": "", "replace_id": "" }, "HP:0009898": { "name": [ "underdeveloped crus of the helix", "underdeveloped crus of the helix" ], "alt_id": [], "def": "Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average.", "synonym": [ [ "hypoplasia of the crus of the ear", "hypoplasia of the crus of the ear" ], [ "underdeveloped crus of the ear", "underdeveloped crus of the ear" ] ], "xref": [ "UMLS:C4021378" ], "is_a": [ "HP:0009895" ], "is_obsolete": "", "replace_id": "" }, "HP:0009899": { "name": [ "prominent crus of helix", "prominent crus of helix" ], "alt_id": [], "def": "The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix.", "synonym": [ [ "abnormal prominence of the crus of the ear", "abnormal prominence of the crus of the ear" ], [ "helix , crus , prominent", "helix , crus , prominent" ], [ "hyperplastic helix crus", "hyperplastic helix crus" ], [ "hypertrophic helix crus", "hypertrophic helix crus" ] ], "xref": [ "UMLS:C4021377" ], "is_a": [ "HP:0009895" ], "is_obsolete": "", "replace_id": "" }, "HP:0009900": { "name": [ "unilateral deafness", "unilateral deafness" ], "alt_id": [], "def": "A unilateral absence of sensory perception of sound.", "synonym": [ [ "deafness in one ear", "deafness in one ear" ], [ "deafness , unilateral", "deafness , unilateral" ] ], "xref": [ "MSH:D046088", "SNOMEDCT_US:162342008", "UMLS:C2607947" ], "is_a": [ "HP:0000365" ], "is_obsolete": "", "replace_id": "" }, "HP:0009901": { "name": [ "crumpled ear", "crumple ear" ], "alt_id": [], "def": "Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.", "synonym": [ [ "crumpled ear", "crumple ear" ] ], "xref": [ "UMLS:C4024166" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0009902": { "name": [ "cleft helix", "cleft helix" ], "alt_id": [], "def": "A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length.", "synonym": [ [ "notched helix", "notch helix" ], [ "notching of the ear helix", "notching of the ear helix" ] ], "xref": [ "UMLS:C4021376" ], "is_a": [ "HP:0011039" ], "is_obsolete": "", "replace_id": "" }, "HP:0009903": { "name": [ "conjunctival nodule", "conjunctival nodule" ], "alt_id": [], "def": "Presence of nodules in the conjunctiva of the eye.", "synonym": [], "xref": [ "SNOMEDCT_US:428477002", "UMLS:C1996949" ], "is_a": [ "HP:0000502" ], "is_obsolete": "", "replace_id": "" }, "HP:0009904": { "name": [ "prominent ear helix", "prominent ear helix" ], "alt_id": [], "def": "Abnormally prominent ear helix.", "synonym": [ [ "large helix", "large helix" ] ], "xref": [ "UMLS:C4020776", "UMLS:C4024165" ], "is_a": [ "HP:0011039" ], "is_obsolete": "", "replace_id": "" }, "HP:0009905": { "name": [ "thin ear helix", "thin ear helix" ], "alt_id": [], "def": "Decreased thickness of the helix of the ear.", "synonym": [], "xref": [ "UMLS:C4024164" ], "is_a": [ "HP:0011039" ], "is_obsolete": "", "replace_id": "" }, "HP:0009906": { "name": [ "aplasia / hypoplasia of the earlobes", "aplasia / hypoplasia of the earlobe" ], "alt_id": [], "def": "Absence or underdevelopment of the ear lobes.", "synonym": [ [ "absent / small ear lobes", "absent / small ear lobe" ], [ "absent / underdeveloped ear lobes", "absent / underdevelop ear lobe" ] ], "xref": [ "UMLS:C1851792" ], "is_a": [ "HP:0000363" ], "is_obsolete": "", "replace_id": "" }, "HP:0009907": { "name": [ "attached earlobe", "attach earlobe" ], "alt_id": [], "def": "Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.", "synonym": [ [ "adherent earlobe", "adherent earlobe" ], [ "attached earlobe", "attach earlobe" ] ], "xref": [ "UMLS:C4021375" ], "is_a": [ "HP:0000363" ], "is_obsolete": "", "replace_id": "" }, "HP:0009908": { "name": [ "anterior creases of earlobe", "anterior crease of earlobe" ], "alt_id": [ "HP:0008604" ], "def": "Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.", "synonym": [ [ "earlobe crease", "earlobe crease" ], [ "transverse earlobe creases", "transverse earlobe crease" ] ], "xref": [ "UMLS:C1851897" ], "is_a": [ "HP:0000363" ], "is_obsolete": "", "replace_id": "" }, "HP:0009909": { "name": [ "uplifted earlobe", "uplifted earlobe" ], "alt_id": [ "HP:0009764" ], "def": "An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.", "synonym": [ [ "fleshy upturned lobules", "fleshy upturned lobule" ], [ "lobe , uplifted", "lobe , uplift" ], [ "uplifted earlobe", "uplifted earlobe" ], [ "uplifted earlobes", "uplifted earlobe" ], [ "upturned earlobe", "upturned earlobe" ], [ "upturned earlobes", "upturned earlobe" ] ], "xref": [ "UMLS:C1856117" ], "is_a": [ "HP:0000363" ], "is_obsolete": "", "replace_id": "" }, "HP:0009910": { "name": [ "aplasia of the middle ear ossicles", "aplasia of the middle ear ossicle" ], "alt_id": [], "def": "Absence of the middle ear ossicles, malleus, incus, and stapes.", "synonym": [ [ "absent middle ear bones", "absent middle ear bone" ], [ "absent middle ear ossicles", "absent middle ear ossicle" ] ], "xref": [ "UMLS:C4021374" ], "is_a": [ "HP:0004452" ], "is_obsolete": "", "replace_id": "" }, "HP:0009911": { "name": [ "abnormal temporal bone morphology", "abnormal temporal bone morphology" ], "alt_id": [], "def": "Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.", "synonym": [ [ "abnormality of the temporal bone", "abnormality of the temporal bone" ] ], "xref": [ "UMLS:C4024163" ], "is_a": [ "HP:0000929" ], "is_obsolete": "", "replace_id": "" }, "HP:0009912": { "name": [ "abnormality of the tragus", "abnormality of the tragus" ], "alt_id": [], "def": "An abnormality of the tragus.", "synonym": [], "xref": [ "UMLS:C4024162" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0009913": { "name": [ "aplasia / hypoplasia of the tragus", "aplasia / hypoplasia of the tragus" ], "alt_id": [], "def": "Aplasia or developmental hypoplasia of the tragus.", "synonym": [ [ "absent / small tragus", "absent / small tragus" ], [ "absent / underdeveloped tragus", "absent / underdevelop tragus" ] ], "xref": [ "UMLS:C4024161" ], "is_a": [ "HP:0009912" ], "is_obsolete": "", "replace_id": "" }, "HP:0009914": { "name": [ "cyclopia", "cyclopia" ], "alt_id": [], "def": "Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.", "synonym": [ [ "cyclops eye", "cyclops eye" ], [ "single central eye", "single central eye" ] ], "xref": [ "MSH:C562573", "SNOMEDCT_US:205798005", "UMLS:C0266667" ], "is_a": [ "HP:0100886" ], "is_obsolete": "", "replace_id": "" }, "HP:0009915": { "name": [ "corneal asymmetry", "corneal asymmetry" ], "alt_id": [], "def": "The presence of a size difference between the left and right cornea.", "synonym": [ [ "asymmetry of the corneas", "asymmetry of the cornea" ] ], "xref": [ "UMLS:C4021373" ], "is_a": [ "HP:0001120" ], "is_obsolete": "", "replace_id": "" }, "HP:0009916": { "name": [ "anisocoria", "anisocoria" ], "alt_id": [], "def": "Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.", "synonym": [ [ "asymmetric pupil sizes", "asymmetric pupil size" ], [ "asymmetry of the pupils", "asymmetry of the pupil" ], [ "unequal pupil dilatation", "unequal pupil dilatation" ], [ "unequal pupil size", "unequal pupil size" ] ], "xref": [ "MSH:D015875", "SNOMEDCT_US:13045009", "UMLS:C0003079" ], "is_a": [ "HP:0000615" ], "is_obsolete": "", "replace_id": "" }, "HP:0009917": { "name": [ "persistent pupillary membrane", "persistent pupillary membrane" ], "alt_id": [], "def": "The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.", "synonym": [], "xref": [ "SNOMEDCT_US:95500008", "UMLS:C0344541" ], "is_a": [ "HP:0000615" ], "is_obsolete": "", "replace_id": "" }, "HP:0009918": { "name": [ "ectopia pupillae", "ectopia pupillae" ], "alt_id": [], "def": "A malposition of the pupil owing to a developmental defect of the iris.", "synonym": [ [ "corectopia", "corectopia" ], [ "displaced pupil", "displace pupil" ] ], "xref": [ "MSH:C536185", "SNOMEDCT_US:193523008", "SNOMEDCT_US:392461003", "UMLS:C1271219" ], "is_a": [ "HP:0000615" ], "is_obsolete": "", "replace_id": "" }, "HP:0009919": { "name": [ "retinoblastoma", "retinoblastoma" ], "alt_id": [], "def": "A tumor of the eye originating from cells of the retina.", "synonym": [ [ "retina tumor", "retina tumor" ], [ "retina tumour", "retina tumour" ] ], "xref": [ "MSH:D012175", "MSH:D019572", "NCIT:C7541", "SNOMEDCT_US:127002001", "SNOMEDCT_US:19906005", "SNOMEDCT_US:370967009", "UMLS:C0035335", "UMLS:C0524801" ], "is_a": [ "HP:0002898", "HP:0012777", "HP:0030063" ], "is_obsolete": "", "replace_id": "" }, "HP:0009920": { "name": [ "nevus of ota", "nevus of ota" ], "alt_id": [], "def": "A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera.", "synonym": [ [ "congenital melanosis bulbi", "congenital melanosis bulbi" ], [ "naevus fuscoceruleus ophthalmomaxillaris", "naevus fuscoceruleus ophthalmomaxillaris" ], [ "nevus fuscoceruleus ophthalmomaxillaris", "nevus fuscoceruleus ophthalmomaxillaris" ], [ "oculodermal melanocytosis", "oculodermal melanocytosis" ] ], "xref": [ "MSH:D009507", "SNOMEDCT_US:254817005", "SNOMEDCT_US:414929001", "UMLS:C0027961" ], "is_a": [ "HP:0003764" ], "is_obsolete": "", "replace_id": "" }, "HP:0009921": { "name": [ "duane anomaly", "duane anomaly" ], "alt_id": [ "HP:0001109" ], "def": "A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction", "synonym": [ [ "globe retraction and deviation on adduction", "globe retraction and deviation on adduction" ], [ "limited eye motility from duane anomaly", "limited eye motility from duane anomaly" ], [ "limited eye movement from duane anomaly", "limited eye movement from duane anomaly" ] ], "xref": [ "MSH:D004370", "SNOMEDCT_US:60318001", "UMLS:C0013261", "UMLS:C1846464", "UMLS:C4072873" ], "is_a": [ "HP:0025068" ], "is_obsolete": "", "replace_id": "" }, "HP:0009922": { "name": [ "vascular remnant arising from the disc", "vascular remnant arise from the disc" ], "alt_id": [], "def": "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth.", "synonym": [ [ "persistence of the hyaloid artery", "persistence of the hyaloid artery" ], [ "persistent hyaloid artery", "persistent hyaloid artery" ] ], "xref": [ "UMLS:C4024160" ], "is_a": [ "HP:0007968" ], "is_obsolete": "", "replace_id": "" }, "HP:0009924": { "name": [ "aplasia / hypoplasia involving the nose", "aplasia / hypoplasia involve the nose" ], "alt_id": [], "def": "Underdevelopment or absence of the nose or parts thereof.", "synonym": [ [ "decreased nasal size", "decrease nasal size" ], [ "decreased size of nose", "decreased size of nose" ], [ "hypoplasia of the nose", "hypoplasia of the nose" ], [ "hypotrophic nose", "hypotrophic nose" ] ], "xref": [ "SNOMEDCT_US:204519007", "SNOMEDCT_US:93278002", "UMLS:C0685684", "UMLS:C4024159", "UMLS:C4280392" ], "is_a": [ "HP:0005105" ], "is_obsolete": "", "replace_id": "" }, "HP:0009926": { "name": [ "epiphora", "epiphora" ], "alt_id": [ "HP:0001486" ], "def": "Abnormally increased lacrimation, that is, excessive tearing (watering eye).", "synonym": [ [ "increased lacrimation", "increase lacrimation" ], [ "increased tears", "increase tear" ], [ "tearing", "tear" ], [ "watery eyes", "watery eye" ] ], "xref": [ "MSH:D007766", "SNOMEDCT_US:193982009", "SNOMEDCT_US:418035005", "UMLS:C0152227" ], "is_a": [ "HP:0000632" ], "is_obsolete": "", "replace_id": "" }, "HP:0009927": { "name": [ "aplasia of the nose", "aplasia of the nose" ], "alt_id": [], "def": "Complete absence of all nasal structures.", "synonym": [ [ "absent nose", "absent nose" ], [ "arrhinia", "arrhinia" ], [ "failure of development of nose", "failure of development of nose" ], [ "missing nose", "miss nose" ], [ "nasal underdevelopment", "nasal underdevelopment" ], [ "underdevelopment of nose", "underdevelopment of nose" ] ], "xref": [ "MSH:C537438", "SNOMEDCT_US:111317000", "UMLS:C0265740", "UMLS:C4280391" ], "is_a": [ "HP:0009924" ], "is_obsolete": "", "replace_id": "" }, "HP:0009928": { "name": [ "thick nasal alae", "thick nasal ala" ], "alt_id": [], "def": "Increase in bulk of the ala nasi.", "synonym": [ [ "ala nasi , thick", "ala nasi , thick" ], [ "thickening of the alae nasi", "thickening of the ala nasi" ] ], "xref": [ "UMLS:C1844809" ], "is_a": [ "HP:0000429" ], "is_obsolete": "", "replace_id": "" }, "HP:0009929": { "name": [ "abnormality of the columella", "abnormality of the columella" ], "alt_id": [], "def": "An abnormality of the columella.", "synonym": [ [ "anomaly of the columella", "anomaly of the columella" ], [ "deformity of the columella", "deformity of the columella" ], [ "malformation of the columella", "malformation of the columella" ] ], "xref": [ "UMLS:C4024158" ], "is_a": [ "HP:0010938" ], "is_obsolete": "", "replace_id": "" }, "HP:0009930": { "name": [ "asymmetry of the nares", "asymmetry of the naris" ], "alt_id": [], "def": "Asymmetry or size difference between the left and right nostril.", "synonym": [ [ "asymmetry of nostrils", "asymmetry of nostril" ], [ "crooked nostrils", "crook nostril" ], [ "unequal nostril shape", "unequal nostril shape" ], [ "unequal nostril size", "unequal nostril size" ], [ "uneven nostril shape", "uneven nostril shape" ], [ "uneven nostril size", "uneven nostril size" ] ], "xref": [ "UMLS:C4024157" ], "is_a": [ "HP:0005288" ], "is_obsolete": "", "replace_id": "" }, "HP:0009931": { "name": [ "enlarged naris", "enlarge naris" ], "alt_id": [], "def": "Increased aperture of the nostril.", "synonym": [ [ "broad nostril", "broad nostril" ], [ "dilated nares", "dilate naris" ], [ "dilated nostril", "dilate nostril" ], [ "enlarged nares", "enlarge naris" ], [ "enlarged nostril", "enlarge nostril" ], [ "increased diameter of nares", "increase diameter of naris" ], [ "increased diameter of nostril", "increase diameter of nostril" ], [ "increased width of nares", "increase width of naris" ], [ "large nares", "large naris" ], [ "naris , broad", "naris , broad" ], [ "naris , enlarged", "naris , enlarge" ], [ "wide nares", "wide naris" ], [ "wide nostril", "wide nostril" ] ], "xref": [ "SNOMEDCT_US:399353008", "UMLS:C0426440" ], "is_a": [ "HP:0005288" ], "is_obsolete": "", "replace_id": "" }, "HP:0009932": { "name": [ "single naris", "single naris" ], "alt_id": [], "def": "The presence of only a single nostril.", "synonym": [ [ "mono nostril", "mono nostril" ], [ "one nostril", "one nostril" ], [ "single nare", "single nare" ], [ "single nostril", "single nostril" ] ], "xref": [ "SNOMEDCT_US:95266003", "UMLS:C0685682" ], "is_a": [ "HP:0005288" ], "is_obsolete": "", "replace_id": "" }, "HP:0009933": { "name": [ "narrow naris", "narrow naris" ], "alt_id": [], "def": "Slender, slit-like aperture of the nostril.", "synonym": [ [ "collapsed nostrils", "collapse nostril" ], [ "naris , narrow", "naris , narrow" ], [ "naris , slit - like", "naris , slit - like" ], [ "narrow nares", "narrow naris" ], [ "narrow nostrils", "narrow nostril" ], [ "slit - like nostrils", "slit - like nostril" ], [ "small nostrils", "small nostril" ], [ "thin nares", "thin naris" ], [ "thin nostrils", "thin nostril" ] ], "xref": [ "SNOMEDCT_US:249336003", "SNOMEDCT_US:249339005", "UMLS:C0426436", "UMLS:C0426439", "UMLS:C1849366", "UMLS:C4280390" ], "is_a": [ "HP:0005288" ], "is_obsolete": "", "replace_id": "" }, "HP:0009934": { "name": [ "supernumerary naris", "supernumerary naris" ], "alt_id": [], "def": "The presence of more than two nostrils.", "synonym": [ [ "accessory nares", "accessory naris" ], [ "accessory nostril", "accessory nostril" ], [ "extra nostril", "extra nostril" ], [ "supernumerary nares", "supernumerary naris" ], [ "supernumerary nostrils", "supernumerary nostril" ] ], "xref": [ "UMLS:C4021372" ], "is_a": [ "HP:0005288" ], "is_obsolete": "", "replace_id": "" }, "HP:0009935": { "name": [ "aplasia / hypoplasia of the nasal septum", "aplasia / hypoplasia of the nasal septum" ], "alt_id": [], "def": "Absence or underdevelopment of the nasal septum.", "synonym": [ [ "ageneis of nasal septum", "ageneis of nasal septum" ], [ "failure of development of nasal septum", "failure of development of nasal septum" ], [ "underdevelopment of nasal septum", "underdevelopment of nasal septum" ] ], "xref": [ "UMLS:C4024156" ], "is_a": [ "HP:0000419", "HP:0009924" ], "is_obsolete": "", "replace_id": "" }, "HP:0009936": { "name": [ "narrow nasal septum", "narrow nasal septum" ], "alt_id": [], "def": "Abnormally narrow nasal septum.", "synonym": [ [ "decreased width of nasal septum", "decrease width of nasal septum" ], [ "narrow nasal septum", "narrow nasal septum" ], [ "narrow septum of nose", "narrow septum of nose" ], [ "thin nasal septum", "thin nasal septum" ], [ "thin septum of nose", "thin septum of nose" ] ], "xref": [ "UMLS:C4024155" ], "is_a": [ "HP:0000419" ], "is_obsolete": "", "replace_id": "" }, "HP:0009937": { "name": [ "facial hirsutism", "facial hirsutism" ], "alt_id": [], "def": "Excess facial hair.", "synonym": [ [ "excessive face hair", "excessive face hair" ] ], "xref": [ "UMLS:C1850041", "UMLS:C2128203" ], "is_a": [ "HP:0009889" ], "is_obsolete": "", "replace_id": "" }, "HP:0009938": { "name": [ "sunken cheeks", "sunken cheek" ], "alt_id": [], "def": "Lack or loss of the soft tissues between the zygomata and mandible.", "synonym": [ [ "depressed cheeks", "depressed cheek" ], [ "hollow cheeks", "hollow cheek" ], [ "sunken cheeks", "sunken cheek" ] ], "xref": [ "UMLS:C4024154" ], "is_a": [ "HP:0004426" ], "is_obsolete": "", "replace_id": "" }, "HP:0009939": { "name": [ "mandibular aplasia", "mandibular aplasia" ], "alt_id": [], "def": "Absence of the mandible.", "synonym": [ [ "absence of lower jaw", "absence of low jaw" ], [ "absence of lower jaw bone", "absence of low jaw bone" ], [ "absence of lower jaw bones", "absence of low jaw bone" ], [ "absence of mandible", "absence of mandible" ], [ "absent mandible", "absent mandible" ], [ "agenesis of the mandible", "agenesis of the mandible" ], [ "agnathia", "agnathia" ], [ "aplasia of the lower jaw bone", "aplasia of the low jaw bone" ], [ "failure of development of lower jaw", "failure of development of low jaw" ], [ "failure of development of mandible", "failure of development of mandible" ], [ "missing lower jaw", "miss low jaw" ] ], "xref": [ "SNOMEDCT_US:91896009", "SNOMEDCT_US:91922000", "UMLS:C0685775", "UMLS:C0685776", "UMLS:C4021371" ], "is_a": [ "HP:0009118" ], "is_obsolete": "", "replace_id": "" }, "HP:0009940": { "name": [ "asymmetry of the mandible", "asymmetry of the mandible" ], "alt_id": [], "def": "Lack of symmetry between the left and right mandible.", "synonym": [ [ "asymmetry of lower jaw", "asymmetry of low jaw" ], [ "canted lower jaw", "cant low jaw" ], [ "canted mandible", "cant mandible" ], [ "crooked lower jaw", "crook low jaw" ], [ "deviation of lower jaw", "deviation of low jaw" ], [ "deviation of mandible", "deviation of mandible" ], [ "deviation of the lower jaw", "deviation of the low jaw" ], [ "deviation of the mandible", "deviation of the mandible" ], [ "lower jaw shifted to one side", "low jaw shift to one side" ], [ "tilted lower jaw", "tilt low jaw" ], [ "tilted mandible", "tilt mandible" ], [ "uneven lower jaw", "uneven low jaw" ], [ "uneven mandible", "uneven mandible" ] ], "xref": [ "SNOMEDCT_US:235082006", "UMLS:C0399518", "UMLS:C4082201" ], "is_a": [ "HP:0000277" ], "is_obsolete": "", "replace_id": "" }, "HP:0009941": { "name": [ "asymmetry of the mouth", "asymmetry of the mouth" ], "alt_id": [], "def": "The presence of an asymmetric mouth.", "synonym": [ [ "asymmetry of oral cavity", "asymmetry of oral cavity" ], [ "asymmetry of the mouth", "asymmetry of the mouth" ], [ "canted mouth", "cant mouth" ], [ "crooked mouth", "crook mouth" ], [ "tilted mouth", "tilt mouth" ], [ "uneven mouth", "uneven mouth" ] ], "xref": [ "UMLS:C4024153" ], "is_a": [ "HP:0011338" ], "is_obsolete": "", "replace_id": "" }, "HP:0009942": { "name": [ "duplication of thumb phalanx", "duplication of thumb phalanx" ], "alt_id": [ "HP:0009661" ], "def": "Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.", "synonym": [ [ "complete / partial duplication of phalanges of the thumb", "complete / partial duplication of phalanx of the thumb" ], [ "duplicated thumb", "duplicate thumb" ], [ "duplicated thumbs", "duplicate thumb" ], [ "duplication of phalanx of thumb", "duplication of phalanx of thumb" ] ], "xref": [ "UMLS:C4021370" ], "is_a": [ "HP:0009602", "HP:0009997" ], "is_obsolete": "", "replace_id": "" }, "HP:0009943": { "name": [ "complete duplication of thumb phalanx", "complete duplication of thumb phalanx" ], "alt_id": [ "HP:0002801", "HP:0004067" ], "def": "A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.", "synonym": [ [ "complete duplication of the phalanges of the thumb", "complete duplication of the phalanx of the thumb" ], [ "complete duplication of thumb bones", "complete duplication of thumb bone" ], [ "digitalization of thumb", "digitalization of thumb" ], [ "digitalization of thumbs", "digitalization of thumb" ] ], "xref": [ "UMLS:C3554724" ], "is_a": [ "HP:0009942", "HP:0009998" ], "is_obsolete": "", "replace_id": "" }, "HP:0009944": { "name": [ "partial duplication of thumb phalanx", "partial duplication of thumb phalanx" ], "alt_id": [ "HP:0001244", "HP:0004070" ], "def": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.", "synonym": [ [ "bifid thumb", "bifid thumb" ], [ "notching of thumb phalanges", "notching of thumb phalanx" ], [ "partial duplication of the phalanges of the thumb", "partial duplication of the phalanx of the thumb" ], [ "partial duplication of the thumb bones", "partial duplication of the thumb bone" ] ], "xref": [ "UMLS:C4082168" ], "is_a": [ "HP:0009942", "HP:0009999" ], "is_obsolete": "", "replace_id": "" }, "HP:0009945": { "name": [ "duplication of phalanx of 2nd finger", "duplication of phalanx of 2nd finger" ], "alt_id": [], "def": "This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.", "synonym": [ [ "duplication of the bones of index finger", "duplication of the bone of index finger" ], [ "partial / complete duplication of phalanges of the 2nd finger", "partial / complete duplication of phalanx of the 2nd finger" ] ], "xref": [ "UMLS:C4021369" ], "is_a": [ "HP:0009541", "HP:0009946" ], "is_obsolete": "", "replace_id": "" }, "HP:0009946": { "name": [ "polydactyly affecting the 2nd finger", "polydactyly affect the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "extra index finger", "extra index finger" ] ], "xref": [ "UMLS:C4024152" ], "is_a": [ "HP:0004100", "HP:0006159" ], "is_obsolete": "", "replace_id": "" }, "HP:0009947": { "name": [ "duplication of the proximal phalanx of the 2nd finger", "duplication of the proximal phalanx of the 2nd finger" ], "alt_id": [], "def": "Partial or complete duplication of the second proximal phalanx of hand.", "synonym": [ [ "duplication of the proximal bones of the index finger", "duplication of the proximal bone of the index finger" ], [ "partial / complete duplication of the proximal phalanx of the 2nd finger", "partial / complete duplication of the proximal phalanx of the 2nd finger" ] ], "xref": [ "UMLS:C4021368" ], "is_a": [ "HP:0009544", "HP:0009945", "HP:0010006" ], "is_obsolete": "", "replace_id": "" }, "HP:0009948": { "name": [ "duplication of the distal phalanx of the 2nd finger", "duplication of the distal phalanx of the 2nd finger" ], "alt_id": [ "HP:0004144" ], "def": "Partial or complete duplication of the distal phalanx of index finger.", "synonym": [ [ "partial / complete duplication of the distal phalanx of the 2nd finger", "partial / complete duplication of the distal phalanx of the 2nd finger" ], [ "partial / complete duplication of the outermost bone of the index finger", "partial / complete duplication of the outermost bone of the index finger" ] ], "xref": [ "UMLS:C4021367" ], "is_a": [ "HP:0009542", "HP:0009883", "HP:0009945" ], "is_obsolete": "", "replace_id": "" }, "HP:0009949": { "name": [ "duplication of the middle phalanx of the 2nd finger", "duplication of the middle phalanx of the 2nd finger" ], "alt_id": [], "def": "Partial or complete duplication of the middle phalanx of index finger.", "synonym": [ [ "partial / complete duplication of the middle bones of the index finger", "partial / complete duplication of the middle bone of the index finger" ], [ "partial / complete duplication of the middle phalanx of the 2nd finger", "partial / complete duplication of the middle phalanx of the 2nd finger" ] ], "xref": [ "UMLS:C4021366" ], "is_a": [ "HP:0009543", "HP:0009945", "HP:0010008" ], "is_obsolete": "", "replace_id": "" }, "HP:0009950": { "name": [ "complete duplication of the distal phalanx of the 2nd finger", "complete duplication of the distal phalanx of the 2nd finger" ], "alt_id": [], "def": "Complete duplication of the distal phalanx of index finger.", "synonym": [ [ "complete duplication of the outermost bone of the index finger", "complete duplication of the outermost bone of the index finger" ] ], "xref": [ "UMLS:C4024151" ], "is_a": [ "HP:0009948", "HP:0009957", "HP:0010001" ], "is_obsolete": "", "replace_id": "" }, "HP:0009951": { "name": [ "partial duplication of the distal phalanx of the 2nd finger", "partial duplication of the distal phalanx of the 2nd finger" ], "alt_id": [], "def": "Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.", "synonym": [ [ "bifid terminal phalanx of the 2nd finger", "bifid terminal phalanx of the 2nd finger" ], [ "notched outermost bone of the index finger", "notch outermost bone of the index finger" ], [ "partial duplication of the outermost bone of the 2nd finger", "partial duplication of the outermost bone of the 2nd finger" ] ], "xref": [ "UMLS:C4021365" ], "is_a": [ "HP:0009948", "HP:0009956", "HP:0010004" ], "is_obsolete": "", "replace_id": "" }, "HP:0009952": { "name": [ "complete duplication of the middle phalanx of the 2nd finger", "complete duplication of the middle phalanx of the 2nd finger" ], "alt_id": [], "def": "Complete duplication of the middle phalanx of index finger.", "synonym": [ [ "complete duplication of the middle bone of the index finger", "complete duplication of the middle bone of the index finger" ] ], "xref": [ "UMLS:C4024150" ], "is_a": [ "HP:0009949", "HP:0009957", "HP:0010002" ], "is_obsolete": "", "replace_id": "" }, "HP:0009953": { "name": [ "partial duplication of the middle phalanx of the 2nd finger", "partial duplication of the middle phalanx of the 2nd finger" ], "alt_id": [], "def": "Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.", "synonym": [ [ "partial duplication of the middle bone of the index finger", "partial duplication of the middle bone of the index finger" ] ], "xref": [ "UMLS:C4024149" ], "is_a": [ "HP:0009949", "HP:0009956", "HP:0010005" ], "is_obsolete": "", "replace_id": "" }, "HP:0009954": { "name": [ "complete duplication of the proximal phalanx of the 2nd finger", "complete duplication of the proximal phalanx of the 2nd finger" ], "alt_id": [], "def": "Complete duplication of the second proximal phalanx of hand.", "synonym": [ [ "complete duplication of the proximal bone of the index finger", "complete duplication of the proximal bone of the index finger" ] ], "xref": [ "UMLS:C4024148" ], "is_a": [ "HP:0009947", "HP:0009957", "HP:0010000" ], "is_obsolete": "", "replace_id": "" }, "HP:0009955": { "name": [ "partial duplication of the proximal phalanx of the 2nd finger", "partial duplication of the proximal phalanx of the 2nd finger" ], "alt_id": [], "def": "Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.", "synonym": [ [ "partial duplication of the proximal bones of the index finger", "partial duplication of the proximal bone of the index finger" ] ], "xref": [ "UMLS:C4024147" ], "is_a": [ "HP:0009947", "HP:0009956", "HP:0010003" ], "is_obsolete": "", "replace_id": "" }, "HP:0009956": { "name": [ "partial duplication of the phalanges of the 2nd finger", "partial duplication of the phalanx of the 2nd finger" ], "alt_id": [], "def": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.", "synonym": [ [ "partial duplication of the bones of the index finger", "partial duplication of the bone of the index finger" ] ], "xref": [ "UMLS:C4024146" ], "is_a": [ "HP:0009945", "HP:0009999" ], "is_obsolete": "", "replace_id": "" }, "HP:0009957": { "name": [ "complete duplication of the phalanges of the 2nd finger", "complete duplication of the phalanx of the 2nd finger" ], "alt_id": [], "def": "A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.", "synonym": [ [ "complete duplication of the bones of the index finger", "complete duplication of the bone of the index finger" ] ], "xref": [ "UMLS:C4024145" ], "is_a": [ "HP:0009945", "HP:0009998" ], "is_obsolete": "", "replace_id": "" }, "HP:0009958": { "name": [ "polydactyly affecting the 3rd finger", "polydactyly affect the 3rd finger" ], "alt_id": [], "def": "", "synonym": [ [ "extra middle finger", "extra middle finger" ] ], "xref": [ "UMLS:C4024144" ], "is_a": [ "HP:0004150", "HP:0006159" ], "is_obsolete": "", "replace_id": "" }, "HP:0009959": { "name": [ "duplication of phalanx of 3rd finger", "duplication of phalanx of 3rd finger" ], "alt_id": [], "def": "This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.", "synonym": [ [ "duplication of middle finger bone", "duplication of middle finger bone" ], [ "partial / complete duplication of phalanges of the 3rd finger", "partial / complete duplication of phalanx of the 3rd finger" ] ], "xref": [ "UMLS:C4021364" ], "is_a": [ "HP:0009316", "HP:0009958" ], "is_obsolete": "", "replace_id": "" }, "HP:0009960": { "name": [ "complete duplication of the phalanges of the 3rd finger", "complete duplication of the phalanx of the 3rd finger" ], "alt_id": [], "def": "A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.", "synonym": [ [ "complete duplication of middle finger bones", "complete duplication of middle finger bone" ] ], "xref": [ "UMLS:C4024143" ], "is_a": [ "HP:0009959", "HP:0009998" ], "is_obsolete": "", "replace_id": "" }, "HP:0009961": { "name": [ "partial duplication of the phalanges of the 3rd finger", "partial duplication of the phalanx of the 3rd finger" ], "alt_id": [], "def": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.", "synonym": [ [ "partial duplication of middle finger bones", "partial duplication of middle finger bone" ] ], "xref": [ "UMLS:C4024142" ], "is_a": [ "HP:0009959", "HP:0009999" ], "is_obsolete": "", "replace_id": "" }, "HP:0009962": { "name": [ "duplication of the distal phalanx of the 3rd finger", "duplication of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "Partial or complete duplication of the distal phalanx of middle finger.", "synonym": [ [ "partial / complete duplication of the distal phalanx of the 3rd finger", "partial / complete duplication of the distal phalanx of the 3rd finger" ], [ "partial / complete duplication of the outermost bone of the middle finger", "partial / complete duplication of the outermost bone of the middle finger" ] ], "xref": [ "UMLS:C4021363" ], "is_a": [ "HP:0009357", "HP:0009883", "HP:0009959" ], "is_obsolete": "", "replace_id": "" }, "HP:0009963": { "name": [ "duplication of the middle phalanx of the 3rd finger", "duplication of the middle phalanx of the 3rd finger" ], "alt_id": [ "HP:0004157", "HP:0004174" ], "def": "Partial or complete duplication of the middle phalanx of middle finger.", "synonym": [ [ "duplication of the middle bone of the middle finger", "duplication of the middle bone of the middle finger" ], [ "partial / complete duplication of the middle phalanx of the 3rd finger", "partial / complete duplication of the middle phalanx of the 3rd finger" ] ], "xref": [ "UMLS:C4021362" ], "is_a": [ "HP:0004172", "HP:0009959", "HP:0010008" ], "is_obsolete": "", "replace_id": "" }, "HP:0009964": { "name": [ "duplication of the proximal phalanx of the 3rd finger", "duplication of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "Partial or complete duplication of the third proximal phalanx of hand.", "synonym": [ [ "duplication of the proximal bone of the middle finger", "duplication of the proximal bone of the middle finger" ], [ "partial / complete duplication of the proximal phalanx of the 3rd finger", "partial / complete duplication of the proximal phalanx of the 3rd finger" ] ], "xref": [ "UMLS:C4021361" ], "is_a": [ "HP:0009358", "HP:0009959", "HP:0010006" ], "is_obsolete": "", "replace_id": "" }, "HP:0009965": { "name": [ "complete duplication of the distal phalanx of the 3rd finger", "complete duplication of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "Complete duplication of the distal phalanx of middle finger", "synonym": [ [ "complete duplication of the outermost bone of the 3rd finger", "complete duplication of the outermost bone of the 3rd finger" ] ], "xref": [ "UMLS:C4024141" ], "is_a": [ "HP:0009960", "HP:0009962", "HP:0010001" ], "is_obsolete": "", "replace_id": "" }, "HP:0009966": { "name": [ "complete duplication of the middle phalanx of the 3rd finger", "complete duplication of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "Complete duplication of the middle phalanx of middle finger.", "synonym": [ [ "complete duplication of the middle bone of the middle finger", "complete duplication of the middle bone of the middle finger" ] ], "xref": [ "UMLS:C4024140" ], "is_a": [ "HP:0009960", "HP:0009963", "HP:0010002" ], "is_obsolete": "", "replace_id": "" }, "HP:0009967": { "name": [ "complete duplication of the proximal phalanx of the 3rd finger", "complete duplication of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "Complete duplication of the third proximal phalanx of hand.", "synonym": [ [ "complete duplication of the innermost bone of the 3rd finger", "complete duplication of the innermost bone of the 3rd finger" ] ], "xref": [ "UMLS:C4024139" ], "is_a": [ "HP:0009960", "HP:0009964", "HP:0010000" ], "is_obsolete": "", "replace_id": "" }, "HP:0009968": { "name": [ "partial duplication of the distal phalanx of the 3rd finger", "partial duplication of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.", "synonym": [ [ "bifid terminal phalanx of the 3rd finger", "bifid terminal phalanx of the 3rd finger" ], [ "notched outermost bone of the middle finger", "notch outermost bone of the middle finger" ], [ "partial duplication of the outermost bone of the middle finger", "partial duplication of the outermost bone of the middle finger" ] ], "xref": [ "UMLS:C4021360" ], "is_a": [ "HP:0009961", "HP:0009962", "HP:0010004" ], "is_obsolete": "", "replace_id": "" }, "HP:0009969": { "name": [ "partial duplication of the middle phalanx of the 3rd finger", "partial duplication of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.", "synonym": [ [ "partial duplication of the middle bone of the 3rd finger", "partial duplication of the middle bone of the 3rd finger" ] ], "xref": [ "UMLS:C4024138" ], "is_a": [ "HP:0009961", "HP:0009963", "HP:0010005" ], "is_obsolete": "", "replace_id": "" }, "HP:0009970": { "name": [ "partial duplication of the proximal phalanx of the 3rd finger", "partial duplication of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.", "synonym": [ [ "partial duplication of the proximal bone of the middle finger", "partial duplication of the proximal bone of the middle finger" ] ], "xref": [ "UMLS:C4024137" ], "is_a": [ "HP:0009961", "HP:0009964", "HP:0010003" ], "is_obsolete": "", "replace_id": "" }, "HP:0009971": { "name": [ "polydactyly affecting the 4th finger", "polydactyly affect the 4th finger" ], "alt_id": [], "def": "", "synonym": [ [ "extra ring finger", "extra ring finger" ] ], "xref": [ "UMLS:C4024136" ], "is_a": [ "HP:0004188", "HP:0006159" ], "is_obsolete": "", "replace_id": "" }, "HP:0009972": { "name": [ "duplication of phalanx of 4th finger", "duplication of phalanx of 4th finger" ], "alt_id": [], "def": "This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.", "synonym": [ [ "duplication of bones of the ring finger", "duplication of bone of the ring finger" ], [ "partial / complete duplication of phalanges of the 4th finger", "partial / complete duplication of phalanx of the 4th finger" ] ], "xref": [ "UMLS:C4021359" ], "is_a": [ "HP:0009172", "HP:0009971" ], "is_obsolete": "", "replace_id": "" }, "HP:0009973": { "name": [ "complete duplication of the phalanges of the 4th finger", "complete duplication of the phalanx of the 4th finger" ], "alt_id": [], "def": "A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.", "synonym": [ [ "complete duplication of the bones of the ring finger", "complete duplication of the bone of the ring finger" ] ], "xref": [ "UMLS:C4024135" ], "is_a": [ "HP:0009972", "HP:0009998" ], "is_obsolete": "", "replace_id": "" }, "HP:0009974": { "name": [ "partial duplication of the phalanges of the 4th finger", "partial duplication of the phalanx of the 4th finger" ], "alt_id": [], "def": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.", "synonym": [ [ "partial duplication of the bones of the ring finger", "partial duplication of the bone of the ring finger" ] ], "xref": [ "UMLS:C4024134" ], "is_a": [ "HP:0009972", "HP:0009999" ], "is_obsolete": "", "replace_id": "" }, "HP:0009975": { "name": [ "duplication of the distal phalanx of the 4th finger", "duplication of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "Partial or complete duplication of the distal phalanx of ring finger.", "synonym": [ [ "partial / complete duplication of the distal phalanx of the 4th finger", "partial / complete duplication of the distal phalanx of the 4th finger" ], [ "partial / complete duplication of the outermost bone of the ring finger", "partial / complete duplication of the outermost bone of the ring finger" ] ], "xref": [ "UMLS:C4021358" ], "is_a": [ "HP:0009282", "HP:0009883", "HP:0009972" ], "is_obsolete": "", "replace_id": "" }, "HP:0009976": { "name": [ "duplication of the middle phalanx of the 4th finger", "duplication of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "Partial or complete duplication of the middle phalanx of ring finger.", "synonym": [ [ "partial / complete duplication of the middle bone of the ring finger", "partial / complete duplication of the middle bone of the ring finger" ], [ "partial / complete duplication of the middle phalanx of the 4th finger", "partial / complete duplication of the middle phalanx of the 4th finger" ] ], "xref": [ "UMLS:C4021357" ], "is_a": [ "HP:0009283", "HP:0009972", "HP:0010008" ], "is_obsolete": "", "replace_id": "" }, "HP:0009977": { "name": [ "duplication of the proximal phalanx of the 4th finger", "duplication of the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "Partial or complete duplication of the fourth proximal phalanx of hand.", "synonym": [ [ "duplication of the proximal bone of the ring finger", "duplication of the proximal bone of the ring finger" ], [ "partial / complete duplication of the proximal phalanx of the 4th finger", "partial / complete duplication of the proximal phalanx of the 4th finger" ] ], "xref": [ "UMLS:C4021356" ], "is_a": [ "HP:0009284", "HP:0009972", "HP:0010006" ], "is_obsolete": "", "replace_id": "" }, "HP:0009978": { "name": [ "complete duplication of the distal phalanx of the 4th finger", "complete duplication of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "Complete duplication of the distal phalanx of ring finger.", "synonym": [ [ "complete duplication of the outermost bone of the ring finger", "complete duplication of the outermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024133" ], "is_a": [ "HP:0009973", "HP:0009975", "HP:0010001" ], "is_obsolete": "", "replace_id": "" }, "HP:0009979": { "name": [ "complete duplication of the middle phalanx of the 4th finger", "complete duplication of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "Complete duplication of the middle phalanx of ring finger.", "synonym": [ [ "complete duplication of the middle bone of the ring finger", "complete duplication of the middle bone of the ring finger" ] ], "xref": [ "UMLS:C4024132" ], "is_a": [ "HP:0009973", "HP:0009976", "HP:0010002" ], "is_obsolete": "", "replace_id": "" }, "HP:0009980": { "name": [ "complete duplication of the proximal phalanx of the 4th finger", "complete duplication of the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "Complete duplication of the fourth proximal phalanx of hand.", "synonym": [ [ "complete duplication of the proximal bone of the ring finger", "complete duplication of the proximal bone of the ring finger" ] ], "xref": [ "UMLS:C4024131" ], "is_a": [ "HP:0009973", "HP:0009977", "HP:0010000" ], "is_obsolete": "", "replace_id": "" }, "HP:0009981": { "name": [ "partial duplication of the distal phalanx of the 4th finger", "partial duplication of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.", "synonym": [ [ "bifid terminal phalanx of the 4th finger", "bifid terminal phalanx of the 4th finger" ], [ "notched outermost bone of the ring finger", "notch outermost bone of the ring finger" ], [ "partial duplication of the outermost bone of the ring finger", "partial duplication of the outermost bone of the ring finger" ] ], "xref": [ "UMLS:C4021355" ], "is_a": [ "HP:0009974", "HP:0009975", "HP:0010004" ], "is_obsolete": "", "replace_id": "" }, "HP:0009982": { "name": [ "partial duplication of the middle phalanx of the 4th finger", "partial duplication of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.", "synonym": [ [ "partial duplication of the middle bone of the ring finger", "partial duplication of the middle bone of the ring finger" ] ], "xref": [ "UMLS:C4024130" ], "is_a": [ "HP:0009974", "HP:0009976", "HP:0010005" ], "is_obsolete": "", "replace_id": "" }, "HP:0009983": { "name": [ "partial duplication of the proximal phalanx of the 4th finger", "partial duplication of the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.", "synonym": [ [ "partial duplication of the innermost bone of the ring finger", "partial duplication of the innermost bone of the ring finger" ] ], "xref": [ "UMLS:C4024129" ], "is_a": [ "HP:0009974", "HP:0009977", "HP:0010003" ], "is_obsolete": "", "replace_id": "" }, "HP:0009985": { "name": [ "duplication of phalanx of 5th finger", "duplication of phalanx of 5th finger" ], "alt_id": [], "def": "This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.", "synonym": [ [ "partial / complete duplication of little finger bone", "partial / complete duplication of little finger bone" ], [ "partial / complete duplication of phalanges of the 5th finger", "partial / complete duplication of phalanx of the 5th finger" ], [ "partial / complete duplication of pinkie finger bone", "partial / complete duplication of pinkie finger bone" ], [ "partial / complete duplication of pinky finger bone", "partial / complete duplication of pinky finger bone" ] ], "xref": [ "UMLS:C4021354" ], "is_a": [ "HP:0004213", "HP:0009997" ], "is_obsolete": "", "replace_id": "" }, "HP:0009986": { "name": [ "complete duplication of the phalanges of the 5th finger", "complete duplication of the phalanx of the 5th finger" ], "alt_id": [], "def": "A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.", "synonym": [ [ "complete duplication of the little finger bone", "complete duplication of the little finger bone" ], [ "complete duplication of the pinkie finger bone", "complete duplication of the pinkie finger bone" ], [ "complete duplication of the pinky finger bone", "complete duplication of the pinky finger bone" ] ], "xref": [ "UMLS:C4024128" ], "is_a": [ "HP:0009985", "HP:0009998" ], "is_obsolete": "", "replace_id": "" }, "HP:0009987": { "name": [ "partial duplication of the phalanges of the 5th finger", "partial duplication of the phalanx of the 5th finger" ], "alt_id": [], "def": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.", "synonym": [ [ "partial duplication of the little finger bone", "partial duplication of the little finger bone" ], [ "partial duplication of the pinkie finger bone", "partial duplication of the pinkie finger bone" ], [ "partial duplication of the pinky finger bone", "partial duplication of the pinky finger bone" ] ], "xref": [ "UMLS:C4024127" ], "is_a": [ "HP:0009985", "HP:0009999" ], "is_obsolete": "", "replace_id": "" }, "HP:0009988": { "name": [ "duplication of the distal phalanx of the 5th finger", "duplication of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "Partial or complete duplication of the distal phalanx of little finger.", "synonym": [ [ "duplication of the outermost little finger bone", "duplication of the outermost little finger bone" ], [ "duplication of the outermost pinkie finger bone", "duplication of the outermost pinkie finger bone" ], [ "duplication of the outermost pinky finger bone", "duplication of the outermost pinky finger bone" ], [ "partial / complete duplication of the distal phalanx of the 5th finger", "partial / complete duplication of the distal phalanx of the 5th finger" ] ], "xref": [ "UMLS:C4021353" ], "is_a": [ "HP:0004225", "HP:0009883", "HP:0009985" ], "is_obsolete": "", "replace_id": "" }, "HP:0009989": { "name": [ "duplication of the middle phalanx of the 5th finger", "duplication of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "Partial or complete duplication of the fifth middle phalanx of hand.", "synonym": [ [ "duplication of the middle little finger bone", "duplication of the middle little finger bone" ], [ "duplication of the middle pinkie finger bone", "duplication of the middle pinkie finger bone" ], [ "duplication of the middle pinky finger bone", "duplication of the middle pinky finger bone" ], [ "partial / complete duplication of the middle phalanx of the 5th finger", "partial / complete duplication of the middle phalanx of the 5th finger" ] ], "xref": [ "UMLS:C4021352" ], "is_a": [ "HP:0004219", "HP:0009985", "HP:0010008" ], "is_obsolete": "", "replace_id": "" }, "HP:0009990": { "name": [ "duplication of the proximal phalanx of the 5th finger", "duplication of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Partial or complete duplication of the fifth proximal phalanx of hand.", "synonym": [ [ "duplication of the innermost little finger bone", "duplication of the innermost little finger bone" ], [ "duplication of the innermost pinkie finger bone", "duplication of the innermost pinkie finger bone" ], [ "duplication of the innermost pinky finger bone", "duplication of the innermost pinky finger bone" ], [ "partial / complete duplication of the proximal phalanx of the 5th finger", "partial / complete duplication of the proximal phalanx of the 5th finger" ] ], "xref": [ "UMLS:C4021351" ], "is_a": [ "HP:0009150", "HP:0009985", "HP:0010006" ], "is_obsolete": "", "replace_id": "" }, "HP:0009991": { "name": [ "complete duplication of the distal phalanx of the 5th finger", "complete duplication of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "Complete duplication of the distal phalanx of little finger.", "synonym": [ [ "complete duplication of the outermost little finger bone", "complete duplication of the outermost little finger bone" ], [ "complete duplication of the outermost pinkie finger bone", "complete duplication of the outermost pinkie finger bone" ], [ "complete duplication of the outermost pinky finger bone", "complete duplication of the outermost pinky finger bone" ] ], "xref": [ "UMLS:C4024126" ], "is_a": [ "HP:0009986", "HP:0009988", "HP:0010001" ], "is_obsolete": "", "replace_id": "" }, "HP:0009992": { "name": [ "complete duplication of the middle phalanx of the 5th finger", "complete duplication of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "Complete duplication of the fifth middle phalanx of hand.", "synonym": [ [ "complete duplication of the middle little finger bone", "complete duplication of the middle little finger bone" ], [ "complete duplication of the middle pinkie finger bone", "complete duplication of the middle pinkie finger bone" ], [ "complete duplication of the middle pinky finger bone", "complete duplication of the middle pinky finger bone" ] ], "xref": [ "UMLS:C4024125" ], "is_a": [ "HP:0009986", "HP:0009989", "HP:0010002" ], "is_obsolete": "", "replace_id": "" }, "HP:0009993": { "name": [ "complete duplication of the proximal phalanx of the 5th finger", "complete duplication of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Complete duplication of the fifth proximal phalanx of hand.", "synonym": [ [ "complete duplication of the innermost little finger bone", "complete duplication of the innermost little finger bone" ], [ "complete duplication of the innermost pinkie finger bone", "complete duplication of the innermost pinkie finger bone" ], [ "complete duplication of the innermost pinky finger bone", "complete duplication of the innermost pinky finger bone" ] ], "xref": [ "UMLS:C4024124" ], "is_a": [ "HP:0009986", "HP:0009990", "HP:0010000" ], "is_obsolete": "", "replace_id": "" }, "HP:0009994": { "name": [ "partial duplication of the distal phalanx of the 5th finger", "partial duplication of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx.", "synonym": [ [ "bifid terminal phalanx of the 5th finger", "bifid terminal phalanx of the 5th finger" ], [ "notched outermost pinky finger bone", "notch outermost pinky finger bone" ], [ "partial duplication of outermost little finger bone", "partial duplication of outermost little finger bone" ], [ "partial duplication of outermost pinkie finger bone", "partial duplication of outermost pinkie finger bone" ], [ "partial duplication of outermost pinky finger bone", "partial duplication of outermost pinky finger bone" ] ], "xref": [ "UMLS:C4021350" ], "is_a": [ "HP:0009987", "HP:0009988", "HP:0010004" ], "is_obsolete": "", "replace_id": "" }, "HP:0009995": { "name": [ "partial duplication of the middle phalanx of the 5th finger", "partial duplication of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.", "synonym": [ [ "partial duplication of the middle little finger bone", "partial duplication of the middle little finger bone" ], [ "partial duplication of the middle pinkie finger bone", "partial duplication of the middle pinkie finger bone" ], [ "partial duplication of the middle pinky finger bone", "partial duplication of the middle pinky finger bone" ] ], "xref": [ "UMLS:C4024123" ], "is_a": [ "HP:0009987", "HP:0009989", "HP:0010005" ], "is_obsolete": "", "replace_id": "" }, "HP:0009996": { "name": [ "partial duplication of the proximal phalanx of the 5th finger", "partial duplication of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.", "synonym": [ [ "partial duplication of the innermost little finger bone", "partial duplication of the innermost little finger bone" ], [ "partial duplication of the innermost pinkie finger bone", "partial duplication of the innermost pinkie finger bone" ], [ "partial duplication of the innermost pinky finger bone", "partial duplication of the innermost pinky finger bone" ] ], "xref": [ "UMLS:C4024122" ], "is_a": [ "HP:0009987", "HP:0009990", "HP:0010003" ], "is_obsolete": "", "replace_id": "" }, "HP:0009997": { "name": [ "duplication of phalanx of hand", "duplication of phalanx of hand" ], "alt_id": [ "HP:0009143" ], "def": "This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.", "synonym": [ [ "duplication of finger bones", "duplication of finger bone" ] ], "xref": [ "UMLS:C4021349" ], "is_a": [ "HP:0004275", "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0009998": { "name": [ "complete duplication of phalanx of hand", "complete duplication of phalanx of hand" ], "alt_id": [], "def": "A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.", "synonym": [ [ "complete duplication of hand bones", "complete duplication of hand bone" ] ], "xref": [ "UMLS:C4024121" ], "is_a": [ "HP:0009997" ], "is_obsolete": "", "replace_id": "" }, "HP:0009999": { "name": [ "partial duplication of the phalanx of hand", "partial duplication of the phalanx of hand" ], "alt_id": [], "def": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.", "synonym": [ [ "partial duplication of hand bones", "partial duplication of hand bone" ] ], "xref": [ "UMLS:C4024120" ], "is_a": [ "HP:0009997" ], "is_obsolete": "", "replace_id": "" }, "HP:0010000": { "name": [ "complete duplication of the proximal phalanges of the hand", "complete duplication of the proximal phalanx of the hand" ], "alt_id": [], "def": "A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.", "synonym": [ [ "complete duplication of the innermost bones of the hand", "complete duplication of the innermost bone of the hand" ] ], "xref": [ "UMLS:C4024119" ], "is_a": [ "HP:0009998", "HP:0010006" ], "is_obsolete": "", "replace_id": "" }, "HP:0010001": { "name": [ "complete duplication of the distal phalanges of the hand", "complete duplication of the distal phalanx of the hand" ], "alt_id": [], "def": "A complete duplication affecting one or more of the distal phalanges of the hand.", "synonym": [ [ "complete duplication of the outermost bones of the hand", "complete duplication of the outermost bone of the hand" ] ], "xref": [ "UMLS:C4024118" ], "is_a": [ "HP:0009883", "HP:0009998" ], "is_obsolete": "", "replace_id": "" }, "HP:0010002": { "name": [ "complete duplication of the middle phalanges of the hand", "complete duplication of the middle phalanx of the hand" ], "alt_id": [], "def": "A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism.", "synonym": [ [ "complete duplication of the middle bones of the hand", "complete duplication of the middle bone of the hand" ] ], "xref": [ "UMLS:C4024117" ], "is_a": [ "HP:0009998", "HP:0010008" ], "is_obsolete": "", "replace_id": "" }, "HP:0010003": { "name": [ "partial duplication of the proximal phalanges of the hand", "partial duplication of the proximal phalanx of the hand" ], "alt_id": [], "def": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.", "synonym": [ [ "partial duplication of the innermost bones of the hand", "partial duplication of the innermost bone of the hand" ] ], "xref": [ "UMLS:C4024116" ], "is_a": [ "HP:0009999", "HP:0010006" ], "is_obsolete": "", "replace_id": "" }, "HP:0010004": { "name": [ "partial duplication of the distal phalanges of the hand", "partial duplication of the distal phalanx of the hand" ], "alt_id": [ "HP:0006196" ], "def": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.", "synonym": [ [ "bifid terminal phalanges of the hand", "bifid terminal phalanx of the hand" ], [ "partial duplication of the outermost bone of the hand", "partial duplication of the outermost bone of the hand" ] ], "xref": [ "UMLS:C4021348" ], "is_a": [ "HP:0009883", "HP:0009999" ], "is_obsolete": "", "replace_id": "" }, "HP:0010005": { "name": [ "partial duplication of the middle phalanges of the hand", "partial duplication of the middle phalanx of the hand" ], "alt_id": [], "def": "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.", "synonym": [ [ "partial duplication of the middle bones of hand", "partial duplication of the middle bone of hand" ] ], "xref": [ "UMLS:C4024115" ], "is_a": [ "HP:0009999", "HP:0010008" ], "is_obsolete": "", "replace_id": "" }, "HP:0010006": { "name": [ "duplication of the proximal phalanx of hand", "duplication of the proximal phalanx of hand" ], "alt_id": [], "def": "This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.", "synonym": [ [ "duplication of the innermost bones of hand", "duplication of the innermost bone of hand" ], [ "partial / complete duplication of the proximal phalanges of the hand", "partial / complete duplication of the proximal phalanx of the hand" ] ], "xref": [ "UMLS:C4021347" ], "is_a": [ "HP:0009997" ], "is_obsolete": "", "replace_id": "" }, "HP:0010008": { "name": [ "duplication of the middle phalanx of hand", "duplication of the middle phalanx of hand" ], "alt_id": [], "def": "This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.", "synonym": [ [ "duplication of the middle bones of hand", "duplication of the middle bone of hand" ], [ "partial / complete duplication of the middle phalanges of the hand", "partial / complete duplication of the middle phalanx of the hand" ] ], "xref": [ "UMLS:C4021346" ], "is_a": [ "HP:0009833", "HP:0009834", "HP:0009997" ], "is_obsolete": "", "replace_id": "" }, "HP:0010009": { "name": [ "abnormality of the 1st metacarpal", "abnormality of the 1st metacarpal" ], "alt_id": [], "def": "A structural anomaly of the first metacarpal.", "synonym": [ [ "abnormality of the 1st long bone of hand", "abnormality of the 1st long bone of hand" ] ], "xref": [ "UMLS:C4024114" ], "is_a": [ "HP:0001163" ], "is_obsolete": "", "replace_id": "" }, "HP:0010010": { "name": [ "abnormality of the 2nd metacarpal", "abnormality of the 2nd metacarpal" ], "alt_id": [], "def": "Any abnormality of the second metacarpal bone.", "synonym": [ [ "abnormality of the 2nd long bone of hand", "abnormality of the 2nd long bone of hand" ] ], "xref": [ "UMLS:C4024113" ], "is_a": [ "HP:0001163" ], "is_obsolete": "", "replace_id": "" }, "HP:0010011": { "name": [ "abnormality of the 3rd metacarpal", "abnormality of the 3rd metacarpal" ], "alt_id": [], "def": "Any abnormality of the third metacarpal bone.", "synonym": [ [ "abnormality of the 3rd long bone of hand", "abnormality of the 3rd long bone of hand" ] ], "xref": [ "UMLS:C4024112" ], "is_a": [ "HP:0001163" ], "is_obsolete": "", "replace_id": "" }, "HP:0010012": { "name": [ "abnormality of the 4th metacarpal", "abnormality of the 4th metacarpal" ], "alt_id": [], "def": "Any abnormality of the fourth metacarpal bone.", "synonym": [ [ "abnormality of the 4th long bone of hand", "abnormality of the 4th long bone of hand" ] ], "xref": [ "UMLS:C4024111" ], "is_a": [ "HP:0001163" ], "is_obsolete": "", "replace_id": "" }, "HP:0010013": { "name": [ "abnormality of the 5th metacarpal", "abnormality of the 5th metacarpal" ], "alt_id": [], "def": "Any abnormality of the fifth metacarpal bone.", "synonym": [ [ "abnormality of the 5th long bone of hand", "abnormality of the 5th long bone of hand" ] ], "xref": [ "UMLS:C4024110" ], "is_a": [ "HP:0001163" ], "is_obsolete": "", "replace_id": "" }, "HP:0010014": { "name": [ "abnormality of the epiphysis of the 1st metacarpal", "abnormality of the epiphysis of the 1st metacarpal" ], "alt_id": [], "def": "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays.", "synonym": [ [ "abnormality of the end part of the 1st long bone of hand", "abnormality of the end part of the 1st long bone of hand" ] ], "xref": [ "UMLS:C4024109" ], "is_a": [ "HP:0005913", "HP:0010009", "HP:0010245" ], "is_obsolete": "", "replace_id": "" }, "HP:0010015": { "name": [ "absent epiphysis of the 1st metacarpal", "absent epiphysis of the 1st metacarpal" ], "alt_id": [], "def": "", "synonym": [ [ "absent end part of the 1st long bone of hand", "absent end part of the 1st long bone of hand" ] ], "xref": [ "UMLS:C4024108" ], "is_a": [ "HP:0009196", "HP:0010014", "HP:0010268" ], "is_obsolete": "", "replace_id": "" }, "HP:0010016": { "name": [ "bracket epiphysis of the 1st metacarpal", "bracket epiphysis of the 1st metacarpal" ], "alt_id": [], "def": "An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate.", "synonym": [ [ "bracket shaped end part of 1st long bone of hand", "bracket shape end part of 1st long bone of hand" ] ], "xref": [ "UMLS:C4024107" ], "is_a": [ "HP:0010014", "HP:0010269", "HP:0200050" ], "is_obsolete": "", "replace_id": "" }, "HP:0010017": { "name": [ "cone - shaped epiphysis of the 1st metacarpal", "cone - shaped epiphysis of the 1st metacarpal" ], "alt_id": [], "def": "A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance.", "synonym": [ [ "cone - shaped end part of the 1st long bone of hand", "cone - shaped end part of the 1st long bone of hand" ] ], "xref": [ "UMLS:C4024106" ], "is_a": [ "HP:0006059", "HP:0010014", "HP:0010270" ], "is_obsolete": "", "replace_id": "" }, "HP:0010018": { "name": [ "enlarged epiphysis of the 1st metacarpal", "enlarged epiphysis of the 1st metacarpal" ], "alt_id": [], "def": "Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of the 1st long bone of hand", "enlarged end part of the 1st long bone of hand" ] ], "xref": [ "UMLS:C4024105" ], "is_a": [ "HP:0006134", "HP:0010014", "HP:0010271" ], "is_obsolete": "", "replace_id": "" }, "HP:0010019": { "name": [ "fragmentation of the epiphysis of the 1st metacarpal", "fragmentation of the epiphysis of the 1st metacarpal" ], "alt_id": [], "def": "Epiphysis of the 1st metacarpal having multiple bony fragments.", "synonym": [ [ "fragmentation of the end part of the 1st long bone of hand", "fragmentation of the end part of the 1st long bone of hand" ] ], "xref": [ "UMLS:C4024104" ], "is_a": [ "HP:0009189", "HP:0010014", "HP:0010272" ], "is_obsolete": "", "replace_id": "" }, "HP:0010020": { "name": [ "irregular epiphysis of the 1st metacarpal", "irregular epiphysis of the 1st metacarpal" ], "alt_id": [], "def": "Uneven radiographic opacity of the epiphysis of the 1st metacarpal.", "synonym": [ [ "irregular end part of the 1st long bone of hand", "irregular end part of the 1st long bone of hand" ] ], "xref": [ "UMLS:C4024103" ], "is_a": [ "HP:0009190", "HP:0010014", "HP:0010273" ], "is_obsolete": "", "replace_id": "" }, "HP:0010021": { "name": [ "ivory epiphysis of the 1st metacarpal", "ivory epiphysis of the 1st metacarpal" ], "alt_id": [], "def": "The epiphysis of the 1st metacarpal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.", "synonym": [ [ "increased bone density of end part of the 1st long bone of hand", "increase bone density of end part of the 1st long bone of hand" ] ], "xref": [ "UMLS:C4024102" ], "is_a": [ "HP:0009191", "HP:0010014", "HP:0010274" ], "is_obsolete": "", "replace_id": "" }, "HP:0010022": { "name": [ "pseudoepiphysis of the 1st metacarpal", "pseudoepiphysis of the 1st metacarpal" ], "alt_id": [], "def": "The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.", "synonym": [], "xref": [ "UMLS:C4024101" ], "is_a": [ "HP:0009193", "HP:0010014", "HP:0010275" ], "is_obsolete": "", "replace_id": "" }, "HP:0010023": { "name": [ "small epiphysis of the 1st metacarpal", "small epiphysis of the 1st metacarpal" ], "alt_id": [], "def": "Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms.", "synonym": [ [ "small end part of the 1st long bone of hand", "small end part of the 1st long bone of hand" ] ], "xref": [ "UMLS:C4024100" ], "is_a": [ "HP:0009194", "HP:0010014", "HP:0010276" ], "is_obsolete": "", "replace_id": "" }, "HP:0010024": { "name": [ "epiphyseal stippling of the first metacarpal", "epiphyseal stippling of the first metacarpal" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone.", "synonym": [ [ "speckled calcifications in the end part of the first long bone of hand", "speckled calcification in the end part of the first long bone of hand" ], [ "stippling of the epiphysis of the 1st metacarpal", "stippling of the epiphysis of the 1st metacarpal" ] ], "xref": [ "UMLS:C4021345" ], "is_a": [ "HP:0009195", "HP:0010014", "HP:0010277" ], "is_obsolete": "", "replace_id": "" }, "HP:0010025": { "name": [ "triangular epiphysis of the 1st metacarpal", "triangular epiphysis of the 1st metacarpal" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the 1st long bone of hand", "triangular end part of the 1st long bone of hand" ] ], "xref": [ "UMLS:C4024099" ], "is_a": [ "HP:0009171", "HP:0009696", "HP:0010014" ], "is_obsolete": "", "replace_id": "" }, "HP:0010026": { "name": [ "aplasia / hypoplasia of the 1st metacarpal", "aplasia / hypoplasia of the 1st metacarpal" ], "alt_id": [], "def": "Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).", "synonym": [ [ "absent / small 1st long bone of hand", "absent / small 1st long bone of hand" ], [ "absent / underdeveloped 1st long bone of hand", "absent / underdevelop 1st long bone of hand" ] ], "xref": [ "UMLS:C4024098" ], "is_a": [ "HP:0005914", "HP:0009658", "HP:0010009" ], "is_obsolete": "", "replace_id": "" }, "HP:0010027": { "name": [ "broad 1st metacarpal", "broad 1st metacarpal" ], "alt_id": [], "def": "Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.", "synonym": [ [ "wide 1st long bone of hand", "wide 1st long bone of hand" ] ], "xref": [ "UMLS:C4024097" ], "is_a": [ "HP:0001230", "HP:0009852", "HP:0010009" ], "is_obsolete": "", "replace_id": "" }, "HP:0010028": { "name": [ "bullet - shaped 1st metacarpal", "bullet - shape 1st metacarpal" ], "alt_id": [], "def": "The presence of short and wide 1st metacarpal which tapers distally (\\\"bullet shaped\\\").", "synonym": [ [ "bullet - shaped 1st long bone of hand", "bullet - shape 1st long bone of hand" ] ], "xref": [ "UMLS:C4024096" ], "is_a": [ "HP:0010009" ], "is_obsolete": "", "replace_id": "" }, "HP:0010029": { "name": [ "curved 1st metacarpal", "curve 1st metacarpal" ], "alt_id": [], "def": "A deviation from the normal straight shape of the first metacarpal.", "synonym": [ [ "curved 1st long bone of hand", "curve 1st long bone of hand" ] ], "xref": [ "UMLS:C4024095" ], "is_a": [ "HP:0010009" ], "is_obsolete": "", "replace_id": "" }, "HP:0010030": { "name": [ "osteolytic defects of the 1st metacarpal", "osteolytic defect of the 1st metacarpal" ], "alt_id": [], "def": "Dissolution or degeneration of bone tissue of the 1st metacarpal.", "synonym": [], "xref": [ "UMLS:C4024094" ], "is_a": [ "HP:0001504", "HP:0010009" ], "is_obsolete": "", "replace_id": "" }, "HP:0010031": { "name": [ "patchy sclerosis of the 1st metacarpal", "patchy sclerosis of the 1st metacarpal" ], "alt_id": [], "def": "Uneven increase in bone density within the 1st metacarpal.", "synonym": [ [ "uneven increase in bone density in 1st long bone of hand", "uneven increase in bone density in 1st long bone of hand" ] ], "xref": [ "UMLS:C4024093" ], "is_a": [ "HP:0010009", "HP:0100914" ], "is_obsolete": "", "replace_id": "" }, "HP:0010033": { "name": [ "triangular shaped 1st metacarpal", "triangular shape 1st metacarpal" ], "alt_id": [], "def": "This term applies to a triangular shaped 1st metacarpal.", "synonym": [ [ "triangular shaped 1st long bone of hand", "triangular shape 1st long bone of hand" ] ], "xref": [ "UMLS:C4024092" ], "is_a": [ "HP:0010009" ], "is_obsolete": "", "replace_id": "" }, "HP:0010034": { "name": [ "short 1st metacarpal", "short 1st metacarpal" ], "alt_id": [ "HP:0001190", "HP:0001499", "HP:0005898", "HP:0006141" ], "def": "A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.", "synonym": [ [ "first metacarpal hypoplasia", "first metacarpal hypoplasia" ], [ "first metacarpals hypoplastic", "first metacarpal hypoplastic" ], [ "hypoplastic 1st metacarpal", "hypoplastic 1st metacarpal" ], [ "short first metacarpal", "short first metacarpal" ], [ "short first metacarpals", "short first metacarpal" ], [ "shortened 1st long bone of hand", "shorten 1st long bone of hand" ] ], "xref": [ "UMLS:C1849311" ], "is_a": [ "HP:0009660", "HP:0010026", "HP:0010049" ], "is_obsolete": "", "replace_id": "" }, "HP:0010035": { "name": [ "aplasia of the 1st metacarpal", "aplasia of the 1st metacarpal" ], "alt_id": [ "HP:0006027" ], "def": "Absent first metacarpal (long bone) of the hand.", "synonym": [ [ "absent 1st long bone of hand", "absent 1st long bone of hand" ], [ "absent first metacarpal", "absent first metacarpal" ] ], "xref": [ "UMLS:C1838610" ], "is_a": [ "HP:0009659", "HP:0010026", "HP:0010048", "HP:0010242" ], "is_obsolete": "", "replace_id": "" }, "HP:0010036": { "name": [ "aplasia / hypoplasia of the 2nd metacarpal", "aplasia / hypoplasia of the 2nd metacarpal" ], "alt_id": [], "def": "Aplasia or Hypoplasia affecting the 2nd metacarpal.", "synonym": [ [ "absent / small 2nd long bone of hand", "absent / small 2nd long bone of hand" ], [ "absent / underdeveloped 2nd long bone of hand", "absent / underdevelop 2nd long bone of hand" ] ], "xref": [ "UMLS:C4024091" ], "is_a": [ "HP:0005914", "HP:0010010" ], "is_obsolete": "", "replace_id": "" }, "HP:0010037": { "name": [ "aplasia of the 2nd metacarpal", "aplasia of the 2nd metacarpal" ], "alt_id": [], "def": "Absence of the second long bone of the hand.", "synonym": [ [ "absent 2nd long bone of hand", "absent 2nd long bone of hand" ] ], "xref": [ "UMLS:C4024090" ], "is_a": [ "HP:0010036", "HP:0010048" ], "is_obsolete": "", "replace_id": "" }, "HP:0010038": { "name": [ "short 2nd metacarpal", "short 2nd metacarpal" ], "alt_id": [ "HP:0006231" ], "def": "Short second metacarpal bone because of developmental hypoplasia.", "synonym": [ [ "hypoplastic 2nd metacarpal", "hypoplastic 2nd metacarpal" ], [ "rudimentary 2nd metacarpal", "rudimentary 2nd metacarpal" ], [ "shortened 2nd long bone of hand", "shorten 2nd long bone of hand" ] ], "xref": [ "UMLS:C1969397", "UMLS:C4020774" ], "is_a": [ "HP:0010036", "HP:0010049" ], "is_obsolete": "", "replace_id": "" }, "HP:0010039": { "name": [ "aplasia / hypoplasia of the 3rd metacarpal", "aplasia / hypoplasia of the 3rd metacarpal" ], "alt_id": [], "def": "Aplasia or Hypoplasia affecting the 3rd metacarpal.", "synonym": [ [ "absent / small 3rd long bone of hand", "absent / small 3rd long bone of hand" ], [ "absent / underdeveloped 3rd long bone of hand", "absent / underdevelop 3rd long bone of hand" ] ], "xref": [ "UMLS:C4024089" ], "is_a": [ "HP:0005914", "HP:0010011" ], "is_obsolete": "", "replace_id": "" }, "HP:0010040": { "name": [ "aplasia of the 3rd metacarpal", "aplasia of the 3rd metacarpal" ], "alt_id": [], "def": "Absence of the third long bone of the hand.", "synonym": [ [ "absent 3rd long bone of hand", "absent 3rd long bone of hand" ] ], "xref": [ "UMLS:C4024088" ], "is_a": [ "HP:0010039", "HP:0010048" ], "is_obsolete": "", "replace_id": "" }, "HP:0010041": { "name": [ "short 3rd metacarpal", "short 3rd metacarpal" ], "alt_id": [ "HP:0005624", "HP:0006074", "HP:0006120" ], "def": "Short third metacarpal bone.", "synonym": [ [ "hypoplastic 3rd metacarpal", "hypoplastic 3rd metacarpal" ], [ "short third metacarpals", "short third metacarpal" ], [ "shortened 3rd long bone of hand", "shorten 3rd long bone of hand" ], [ "small 3rd metacarpals", "small 3rd metacarpal" ] ], "xref": [ "UMLS:C1850631" ], "is_a": [ "HP:0010039", "HP:0010049" ], "is_obsolete": "", "replace_id": "" }, "HP:0010042": { "name": [ "aplasia / hypoplasia of the 4th metacarpal", "aplasia / hypoplasia of the 4th metacarpal" ], "alt_id": [], "def": "Aplasia or Hypoplasia affecting the 4th metacarpal.", "synonym": [ [ "absent / small 4th long bone of hand", "absent / small 4th long bone of hand" ], [ "absent / underdeveloped 4th long bone of hand", "absent / underdevelop 4th long bone of hand" ] ], "xref": [ "UMLS:C4024087" ], "is_a": [ "HP:0005914", "HP:0010012" ], "is_obsolete": "", "replace_id": "" }, "HP:0010043": { "name": [ "aplasia of the 4th metacarpal", "aplasia of the 4th metacarpal" ], "alt_id": [], "def": "Absence of the fourth long bone of the hand.", "synonym": [ [ "absent 4th long bone of hand", "absent 4th long bone of hand" ] ], "xref": [ "UMLS:C4024086" ], "is_a": [ "HP:0010042", "HP:0010048" ], "is_obsolete": "", "replace_id": "" }, "HP:0010044": { "name": [ "short 4th metacarpal", "short 4th metacarpal" ], "alt_id": [ "HP:0005094" ], "def": "Short fourth metacarpal bone.", "synonym": [ [ "hypoplastic fourth metacarpal", "hypoplastic fourth metacarpal" ], [ "short 4th metacarpals", "short 4th metacarpal" ], [ "short fourth metacarpals", "short fourth metacarpal" ], [ "shortened 4th long bone of hand", "shorten 4th long bone of hand" ] ], "xref": [ "UMLS:C1840309" ], "is_a": [ "HP:0010042", "HP:0010049" ], "is_obsolete": "", "replace_id": "" }, "HP:0010045": { "name": [ "aplasia / hypoplasia of the 5th metacarpal", "aplasia / hypoplasia of the 5th metacarpal" ], "alt_id": [], "def": "Aplasia or Hypoplasia affecting the 5th metacarpal.", "synonym": [ [ "absent / small 5th long bone of hand", "absent / small 5th long bone of hand" ], [ "absent / underdeveloped 5th long bone of hand", "absent / underdevelop 5th long bone of hand" ] ], "xref": [ "UMLS:C4024085" ], "is_a": [ "HP:0005914", "HP:0010013" ], "is_obsolete": "", "replace_id": "" }, "HP:0010046": { "name": [ "aplasia of the 5th metacarpal", "aplasia of the 5th metacarpal" ], "alt_id": [ "HP:0006103" ], "def": "Absence of the fifth long bone of the hand.", "synonym": [ [ "absent 5th long bone of hand", "absent 5th long bone of hand" ], [ "absent 5th metacarpal", "absent 5th metacarpal" ] ], "xref": [ "UMLS:C1867929" ], "is_a": [ "HP:0010045", "HP:0010048" ], "is_obsolete": "", "replace_id": "" }, "HP:0010047": { "name": [ "short 5th metacarpal", "short 5th metacarpal" ], "alt_id": [ "HP:0005737", "HP:0006004", "HP:0006222" ], "def": "Short fifth metacarpal bone.", "synonym": [ [ "fifth metacarpal hypoplasia", "fifth metacarpal hypoplasia" ], [ "hypoplastic 5th metacarpal", "hypoplastic 5th metacarpal" ], [ "short fifth metacarpal", "short fifth metacarpal" ], [ "short fifth metacarpals", "short fifth metacarpal" ], [ "shortened 5th long bone of hand", "shorten 5th long bone of hand" ] ], "xref": [ "UMLS:C1861388" ], "is_a": [ "HP:0010045", "HP:0010049" ], "is_obsolete": "", "replace_id": "" }, "HP:0010048": { "name": [ "aplasia of metacarpal bones", "aplasia of metacarpal bone" ], "alt_id": [ "HP:0005911" ], "def": "Developmental defect associated with absence of one or more metacarpal bones.", "synonym": [ [ "absent long bone of hand", "absent long bone of hand" ], [ "absent metacarpal", "absent metacarpal" ], [ "absent metacarpals", "absent metacarpal" ] ], "xref": [ "UMLS:C1846473" ], "is_a": [ "HP:0005914" ], "is_obsolete": "", "replace_id": "" }, "HP:0010049": { "name": [ "short metacarpal", "short metacarpal" ], "alt_id": [ "HP:0001164", "HP:0005695", "HP:0005717", "HP:0005909", "HP:0006047", "HP:0006183", "HP:0006186" ], "def": "Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.", "synonym": [ [ "brachymetacarpalia", "brachymetacarpalia" ], [ "hypoplastic metacarpal", "hypoplastic metacarpal" ], [ "metacarpal hypoplasia", "metacarpal hypoplasia" ], [ "short metacarpal bones", "short metacarpal bone" ], [ "short metacarpals", "short metacarpal" ], [ "shortened long bone of hand", "shorten long bone of hand" ], [ "shortened long bones of hand", "shorten long bone of hand" ], [ "shortened metacarpals", "shorten metacarpal" ], [ "shortening of metacarpals", "shortening of metacarpal" ] ], "xref": [ "UMLS:C1837084" ], "is_a": [ "HP:0005914" ], "is_obsolete": "", "replace_id": "" }, "HP:0010051": { "name": [ "deviation of the hallux", "deviation of the hallux" ], "alt_id": [ "HP:0004700" ], "def": "Displacement of the big toe from its normal position.", "synonym": [ [ "displacement of big toe", "displacement of big toe" ], [ "displacement of the hallux", "displacement of the hallux" ] ], "xref": [ "UMLS:C4021344" ], "is_a": [ "HP:0001844", "HP:0100498" ], "is_obsolete": "", "replace_id": "" }, "HP:0010052": { "name": [ "abnormal morphology of the proximal phalanx of the hallux", "abnormal morphology of the proximal phalanx of the hallux" ], "alt_id": [], "def": "An abnormal shape or form of the proximal phalanx of the big toe.", "synonym": [ [ "abnormal innermost big toe bone", "abnormal innermost big toe bone" ], [ "abnormality of the proximal phalanx of the hallux", "abnormality of the proximal phalanx of the hallux" ] ], "xref": [ "UMLS:C4024084" ], "is_a": [ "HP:0010057", "HP:0010183" ], "is_obsolete": "", "replace_id": "" }, "HP:0010053": { "name": [ "abnormality of the distal phalanx of the hallux", "abnormality of the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the outermost bone of the big toe", "abnormality of the outermost bone of the big toe" ] ], "xref": [ "UMLS:C4024083" ], "is_a": [ "HP:0010057", "HP:0010182" ], "is_obsolete": "", "replace_id": "" }, "HP:0010054": { "name": [ "abnormality of the first metatarsal bone", "abnormality of the first metatarsal bone" ], "alt_id": [], "def": "An anomaly of the first metatarsal bone.", "synonym": [ [ "abnormality of the 1st long bone of foot", "abnormality of the 1st long bone of foot" ] ], "xref": [ "UMLS:C4024082" ], "is_a": [ "HP:0001832" ], "is_obsolete": "", "replace_id": "" }, "HP:0010055": { "name": [ "broad hallux", "broad hallux" ], "alt_id": [ "HP:0001834", "HP:0003094", "HP:0004710", "HP:0005883" ], "def": "Visible increase in width of the hallux without an increase in the dorso-ventral dimension.", "synonym": [ [ "abnormally broad great toes", "abnormally broad great toe" ], [ "broad big toe", "broad big toe" ], [ "broad great toe", "broad great toe" ], [ "broad great toes", "broad great toe" ], [ "broad halluces", "broad hallux" ], [ "wide big toe", "wide big toe" ] ], "xref": [ "UMLS:C1867131" ], "is_a": [ "HP:0001837", "HP:0001844" ], "is_obsolete": "", "replace_id": "" }, "HP:0010056": { "name": [ "abnormality of the epiphyses of the hallux", "abnormality of the epiphysis of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the end part of the big toe bone", "abnormality of the end part of the big toe bone" ] ], "xref": [ "UMLS:C4024081" ], "is_a": [ "HP:0001844", "HP:0010160" ], "is_obsolete": "", "replace_id": "" }, "HP:0010057": { "name": [ "abnormality of the phalanges of the hallux", "abnormality of the phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal big toe bones", "abnormal big toe bone" ] ], "xref": [ "UMLS:C4024080" ], "is_a": [ "HP:0001844", "HP:0010161" ], "is_obsolete": "", "replace_id": "" }, "HP:0010058": { "name": [ "aplasia / hypoplasia of the phalanges of the hallux", "aplasia / hypoplasia of the phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small big toe bone", "absent / small big toe bone" ], [ "absent / underdeveloped big toe bone", "absent / underdevelop big toe bone" ] ], "xref": [ "UMLS:C4024079" ], "is_a": [ "HP:0008362", "HP:0010057", "HP:0010173" ], "is_obsolete": "", "replace_id": "" }, "HP:0010059": { "name": [ "broad hallux phalanx", "broad hallux phalanx" ], "alt_id": [], "def": "An increase in width in one or more phalanges of the big toe.", "synonym": [ [ "broad bone of big toe", "broad bone of big toe" ], [ "broad phalanges of the hallux", "broad phalanx of the hallux" ], [ "wide bone of big toe", "wide bone of big toe" ] ], "xref": [ "UMLS:C4021343" ], "is_a": [ "HP:0010057", "HP:0010174" ], "is_obsolete": "", "replace_id": "" }, "HP:0010060": { "name": [ "bullet - shaped hallux phalanx", "bullet - shape hallux phalanx" ], "alt_id": [], "def": "An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped bone of big toe", "bullet - shape bone of big toe" ], [ "bullet - shaped phalanges of the hallux", "bullet - shaped phalanx of the hallux" ] ], "xref": [ "UMLS:C4021342" ], "is_a": [ "HP:0010057", "HP:0010175" ], "is_obsolete": "", "replace_id": "" }, "HP:0010061": { "name": [ "curved hallux phalanx", "curve hallux phalanx" ], "alt_id": [], "def": "A deviation from the normal straight form of one or more phalanges of the big toe.", "synonym": [ [ "curve bones of big toe", "curve bone of big toe" ], [ "curved phalanges of the hallux", "curve phalanx of the hallux" ] ], "xref": [ "UMLS:C4021341" ], "is_a": [ "HP:0010057", "HP:0010176" ], "is_obsolete": "", "replace_id": "" }, "HP:0010062": { "name": [ "osteolytic defects of the phalanges of the hallux", "osteolytic defect of the phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024078" ], "is_a": [ "HP:0010057", "HP:0010177" ], "is_obsolete": "", "replace_id": "" }, "HP:0010063": { "name": [ "patchy sclerosis of hallux phalanx", "patchy sclerosis of hallux phalanx" ], "alt_id": [], "def": "Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.", "synonym": [ [ "patchy sclerosis of the phalanges of the hallux", "patchy sclerosis of the phalanx of the hallux" ], [ "uneven increase in bone density in big toe bone", "uneven increase in bone density in big toe bone" ] ], "xref": [ "UMLS:C4021340" ], "is_a": [ "HP:0010057", "HP:0010178", "HP:0100930" ], "is_obsolete": "", "replace_id": "" }, "HP:0010064": { "name": [ "symphalangism affecting the phalanges of the hallux", "symphalangism affect the phalanx of the hallux" ], "alt_id": [ "HP:0004687" ], "def": "", "synonym": [ [ "fused big toe bones", "fuse big toe bone" ], [ "hallucal symphalangism", "hallucal symphalangism" ] ], "xref": [ "UMLS:C1836216" ], "is_a": [ "HP:0010057", "HP:0010179", "HP:0100235" ], "is_obsolete": "", "replace_id": "" }, "HP:0010065": { "name": [ "triangular shaped phalanges of the hallux", "triangular shape phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "triangular shaped bones of big toe", "triangular shape bone of big toe" ] ], "xref": [ "UMLS:C4024077" ], "is_a": [ "HP:0010057", "HP:0010180" ], "is_obsolete": "", "replace_id": "" }, "HP:0010066": { "name": [ "duplication of phalanx of hallux", "duplication of phalanx of hallux" ], "alt_id": [ "HP:0001784", "HP:0005785", "HP:0005851" ], "def": "Partial or complete duplication of one or more phalanx of big toe.", "synonym": [ [ "duplicated hallux", "duplicate hallux" ], [ "duplication of big toe bone", "duplication of big toe bone" ], [ "duplication of great toes", "duplication of great toe" ], [ "duplication of phalanx of big toe", "duplication of phalanx of big toe" ], [ "hallucal duplication", "hallucal duplication" ], [ "partial / complete duplication of the phalanges of the hallux", "partial / complete duplication of the phalanx of the hallux" ] ], "xref": [ "UMLS:C1860164", "UMLS:C4020691" ], "is_a": [ "HP:0010057", "HP:0010181" ], "is_obsolete": "", "replace_id": "" }, "HP:0010067": { "name": [ "aplasia / hypoplasia of the 1st metatarsal", "aplasia / hypoplasia of the 1st metatarsal" ], "alt_id": [], "def": "Absence or underdevelopment of the first metatarsal bone.", "synonym": [ [ "absent / small 1st long bone of foot", "absent / small 1st long bone of foot" ], [ "absent / underdeveloped 1st long bone of foot", "absent / underdevelop 1st long bone of foot" ] ], "xref": [ "UMLS:C4024076" ], "is_a": [ "HP:0010054" ], "is_obsolete": "", "replace_id": "" }, "HP:0010068": { "name": [ "broad first metatarsal", "broad first metatarsal" ], "alt_id": [ "HP:0004709", "HP:0008085", "HP:0008139" ], "def": "Increased side-to-side width of the first metatarsal bone.", "synonym": [ [ "broad 1st metatarsal", "broad 1st metatarsal" ], [ "enlarged first metatarsal", "enlarge first metatarsal" ], [ "wide 1st long bone of foot", "wide 1st long bone of foot" ] ], "xref": [ "UMLS:C1855899" ], "is_a": [ "HP:0001783", "HP:0010054" ], "is_obsolete": "", "replace_id": "" }, "HP:0010069": { "name": [ "bullet - shaped 1st metatarsal", "bullet - shape 1st metatarsal" ], "alt_id": [], "def": "An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped 1st long bone of foot", "bullet - shape 1st long bone of foot" ] ], "xref": [ "UMLS:C4024075" ], "is_a": [ "HP:0010054" ], "is_obsolete": "", "replace_id": "" }, "HP:0010070": { "name": [ "curved 1st metatarsal", "curve 1st metatarsal" ], "alt_id": [], "def": "A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone.", "synonym": [ [ "curved 1st long bone of foot", "curve 1st long bone of foot" ] ], "xref": [ "UMLS:C4024074" ], "is_a": [ "HP:0010054" ], "is_obsolete": "", "replace_id": "" }, "HP:0010071": { "name": [ "osteolytic defects of the 1st metatarsal", "osteolytic defect of the 1st metatarsal" ], "alt_id": [], "def": "Dissolution or degeneration of bone tissue of the first metatarsal.", "synonym": [], "xref": [ "UMLS:C4024073" ], "is_a": [ "HP:0001473", "HP:0010054", "HP:0010062" ], "is_obsolete": "", "replace_id": "" }, "HP:0010072": { "name": [ "patchy sclerosis of the 1st metatarsal", "patchy sclerosis of the 1st metatarsal" ], "alt_id": [], "def": "", "synonym": [ [ "uneven increase in bone density of the 1st long bone of foot", "uneven increase in bone density of the 1st long bone of foot" ] ], "xref": [ "UMLS:C4024072" ], "is_a": [ "HP:0010054", "HP:0010063", "HP:0010208", "HP:0100945" ], "is_obsolete": "", "replace_id": "" }, "HP:0010073": { "name": [ "synostosis involving the 1st metatarsal", "synostosis involve the 1st metatarsal" ], "alt_id": [], "def": "", "synonym": [ [ "fusion involving the 1st long bone of foot", "fusion involve the 1st long bone of foot" ] ], "xref": [ "UMLS:C4024071" ], "is_a": [ "HP:0010054" ], "is_obsolete": "", "replace_id": "" }, "HP:0010074": { "name": [ "triangular shaped 1st metatarsal", "triangular shape 1st metatarsal" ], "alt_id": [], "def": "", "synonym": [ [ "triangular shaped 1st long bone of foot", "triangular shape 1st long bone of foot" ] ], "xref": [ "UMLS:C4024070" ], "is_a": [ "HP:0010054", "HP:0010065" ], "is_obsolete": "", "replace_id": "" }, "HP:0010075": { "name": [ "duplication of the 1st metatarsal", "duplication of the 1st metatarsal" ], "alt_id": [], "def": "A developmental defect consisting in the duplication of the first metatarsal bone.", "synonym": [ [ "duplicated 1st long bone of foot", "duplicate 1st long bone of foot" ], [ "duplicated first metatarsals", "duplicate first metatarsal" ] ], "xref": [ "UMLS:C1851855" ], "is_a": [ "HP:0001449", "HP:0010054" ], "is_obsolete": "", "replace_id": "" }, "HP:0010076": { "name": [ "aplasia / hypoplasia of the distal phalanx of the hallux", "aplasia / hypoplasia of the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small outermost big toe bone", "absent / small outermost big toe bone" ], [ "absent / underdeveloped outermost big toe bone", "absent / underdevelop outermost big toe bone" ] ], "xref": [ "UMLS:C4024069" ], "is_a": [ "HP:0010053", "HP:0010058", "HP:0010185" ], "is_obsolete": "", "replace_id": "" }, "HP:0010077": { "name": [ "broad distal phalanx of the hallux", "broad distal phalanx of the hallux" ], "alt_id": [], "def": "An increase in width of the distal phalanx of the big toe.", "synonym": [ [ "broad outermost bone of big toe", "broad outermost bone of big toe" ], [ "wide outermost bone of big toe", "wide outermost bone of big toe" ] ], "xref": [ "UMLS:C4024068" ], "is_a": [ "HP:0010053", "HP:0010059", "HP:0010186" ], "is_obsolete": "", "replace_id": "" }, "HP:0010078": { "name": [ "bullet - shaped distal phalanx of the hallux", "bullet - shaped distal phalanx of the hallux" ], "alt_id": [], "def": "An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped outermost bone of big toe", "bullet - shape outermost bone of big toe" ] ], "xref": [ "UMLS:C4024067" ], "is_a": [ "HP:0010053", "HP:0010060", "HP:0010187" ], "is_obsolete": "", "replace_id": "" }, "HP:0010079": { "name": [ "curved distal phalanx of the hallux", "curve distal phalanx of the hallux" ], "alt_id": [], "def": "A deviation from the normal straight form of the distal phalanx of the big toe.", "synonym": [ [ "curved outermost bone of big toe", "curve outermost bone of big toe" ] ], "xref": [ "UMLS:C4024066" ], "is_a": [ "HP:0010053", "HP:0010061", "HP:0010188" ], "is_obsolete": "", "replace_id": "" }, "HP:0010080": { "name": [ "osteolytic defects of the distal phalanx of the hallux", "osteolytic defect of the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024065" ], "is_a": [ "HP:0010053", "HP:0010062", "HP:0010189" ], "is_obsolete": "", "replace_id": "" }, "HP:0010081": { "name": [ "patchy sclerosis of the distal phalanx of the hallux", "patchy sclerosis of the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "uneven increase in bone density in the outermost bone of big toe", "uneven increase in bone density in the outermost bone of big toe" ] ], "xref": [ "UMLS:C4024064" ], "is_a": [ "HP:0010063", "HP:0010190", "HP:0100944" ], "is_obsolete": "", "replace_id": "" }, "HP:0010082": { "name": [ "symphalangism affecting the distal phalanx of the hallux", "symphalangism affect the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "fused outermost bone of big toe", "fuse outermost bone of big toe" ] ], "xref": [ "UMLS:C4024063" ], "is_a": [ "HP:0001859", "HP:0010053", "HP:0010091", "HP:0010191" ], "is_obsolete": "", "replace_id": "" }, "HP:0010083": { "name": [ "triangular shaped distal phalanx of the hallux", "triangular shape distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "triangular shaped outermost bone of the big toe", "triangular shape outermost bone of the big toe" ] ], "xref": [ "UMLS:C4024062" ], "is_a": [ "HP:0010053", "HP:0010065", "HP:0010192" ], "is_obsolete": "", "replace_id": "" }, "HP:0010084": { "name": [ "duplication of the distal phalanx of the hallux", "duplication of the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "duplication of the outermost bone of big toe", "duplication of the outermost bone of big toe" ], [ "partial / complete duplication of the distal phalanx of the hallux", "partial / complete duplication of the distal phalanx of the hallux" ] ], "xref": [ "UMLS:C4021339" ], "is_a": [ "HP:0010053", "HP:0010066", "HP:0010193" ], "is_obsolete": "", "replace_id": "" }, "HP:0010085": { "name": [ "aplasia / hypoplasia of the proximal phalanx of the hallux", "aplasia / hypoplasia of the proximal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small innermost big toe bone", "absent / small innermost big toe bone" ], [ "absent / underdeveloped innermost big toe bone", "absent / underdevelop innermost big toe bone" ] ], "xref": [ "UMLS:C4024061" ], "is_a": [ "HP:0010052", "HP:0010058", "HP:0010194" ], "is_obsolete": "", "replace_id": "" }, "HP:0010086": { "name": [ "broad proximal phalanx of the hallux", "broad proximal phalanx of the hallux" ], "alt_id": [], "def": "Increased width of proximal phalanx of big toe.", "synonym": [ [ "broad innermost bone of the big toe", "broad innermost bone of the big toe" ], [ "broad proximal phalanx of the big toe", "broad proximal phalanx of the big toe" ] ], "xref": [ "UMLS:C4021338" ], "is_a": [ "HP:0010052", "HP:0010059", "HP:0010204" ], "is_obsolete": "", "replace_id": "" }, "HP:0010087": { "name": [ "bullet - shaped proximal phalanx of the hallux", "bullet - shape proximal phalanx of the hallux" ], "alt_id": [], "def": "An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped innermost bone of the big toe", "bullet - shape innermost bone of the big toe" ] ], "xref": [ "UMLS:C4024060" ], "is_a": [ "HP:0010052", "HP:0010060", "HP:0010205" ], "is_obsolete": "", "replace_id": "" }, "HP:0010088": { "name": [ "curved proximal phalanx of the hallux", "curve proximal phalanx of the hallux" ], "alt_id": [], "def": "A deviation from the normal straight form of the proximal phalanx of the big toe.", "synonym": [ [ "curved innermost bone of the big toe", "curve innermost bone of the big toe" ] ], "xref": [ "UMLS:C4024059" ], "is_a": [ "HP:0010052", "HP:0010061", "HP:0010206" ], "is_obsolete": "", "replace_id": "" }, "HP:0010089": { "name": [ "osteolytic defects of the proximal phalanx of the hallux", "osteolytic defect of the proximal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024058" ], "is_a": [ "HP:0010052", "HP:0010062", "HP:0010198" ], "is_obsolete": "", "replace_id": "" }, "HP:0010090": { "name": [ "patchy sclerosis of the proximal phalanx of the hallux", "patchy sclerosis of the proximal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "uneven increase in bone density in the innermost bone of the big toe", "uneven increase in bone density in the innermost bone of the big toe" ] ], "xref": [ "UMLS:C4024057" ], "is_a": [ "HP:0010052", "HP:0010063", "HP:0010199", "HP:0100943" ], "is_obsolete": "", "replace_id": "" }, "HP:0010091": { "name": [ "symphalangism affecting the proximal phalanx of the hallux", "symphalangism affect the proximal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "fused innermost bone of big toe", "fuse innermost bone of big toe" ] ], "xref": [ "UMLS:C4024056" ], "is_a": [ "HP:0010052", "HP:0010064", "HP:0010200" ], "is_obsolete": "", "replace_id": "" }, "HP:0010092": { "name": [ "triangular shaped proximal phalanx of the hallux", "triangular shape proximal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "triangular shaped innermost bone of big toe", "triangular shape innermost bone of big toe" ] ], "xref": [ "UMLS:C4024055" ], "is_a": [ "HP:0010052", "HP:0010065", "HP:0010201" ], "is_obsolete": "", "replace_id": "" }, "HP:0010093": { "name": [ "duplication of the proximal phalanx of the hallux", "duplication of the proximal phalanx of the hallux" ], "alt_id": [], "def": "Partial or complete duplication of the proximal phalanx of big toe.", "synonym": [ [ "duplication of the innermost bone of big toe", "duplication of the innermost bone of big toe" ] ], "xref": [ "UMLS:C4024054" ], "is_a": [ "HP:0010052", "HP:0010066", "HP:0010202" ], "is_obsolete": "", "replace_id": "" }, "HP:0010094": { "name": [ "complete duplication of the proximal phalanx of the hallux", "complete duplication of the proximal phalanx of the hallux" ], "alt_id": [], "def": "Complete duplication of the proximal phalanx of big toe.", "synonym": [ [ "complete duplication of the innermost bone of big toe", "complete duplication of the innermost bone of big toe" ] ], "xref": [ "UMLS:C4024053" ], "is_a": [ "HP:0010093", "HP:0010100" ], "is_obsolete": "", "replace_id": "" }, "HP:0010095": { "name": [ "partial duplication of the proximal phalanx of the hallux", "partial duplication of the proximal phalanx of the hallux" ], "alt_id": [], "def": "Partial duplication of the proximal phalanx of big toe.", "synonym": [ [ "partial duplication of the innermost bone of big toe", "partial duplication of the innermost bone of big toe" ] ], "xref": [ "UMLS:C4024052" ], "is_a": [ "HP:0010093", "HP:0010101" ], "is_obsolete": "", "replace_id": "" }, "HP:0010096": { "name": [ "complete duplication of the distal phalanx of the hallux", "complete duplication of the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "complete duplication of the outermost bone of the big toe", "complete duplication of the outermost bone of the big toe" ] ], "xref": [ "UMLS:C4024051" ], "is_a": [ "HP:0010084", "HP:0010100" ], "is_obsolete": "", "replace_id": "" }, "HP:0010097": { "name": [ "partial duplication of the distal phalanx of the hallux", "partial duplication of the distal phalanx of the hallux" ], "alt_id": [ "HP:0008091" ], "def": "", "synonym": [ [ "bifid distal phalanx of hallux", "bifid distal phalanx of hallux" ], [ "notched outermost bone of big toe", "notch outermost bone of big toe" ], [ "partial duplication of the outermost bone of big toe", "partial duplication of the outermost bone of big toe" ] ], "xref": [ "UMLS:C4021337" ], "is_a": [ "HP:0010084", "HP:0010101" ], "is_obsolete": "", "replace_id": "" }, "HP:0010098": { "name": [ "complete duplication of the 1st metatarsal", "complete duplication of the 1st metatarsal" ], "alt_id": [ "HP:0008121" ], "def": "A developmental defect consisting in the complete duplication of the first metatarsal bone.", "synonym": [ [ "complete duplication of the 1st long bone of foot", "complete duplication of the 1st long bone of foot" ] ], "xref": [ "UMLS:C4024050" ], "is_a": [ "HP:0010075" ], "is_obsolete": "", "replace_id": "" }, "HP:0010099": { "name": [ "partial duplication of the 1st metatarsal", "partial duplication of the 1st metatarsal" ], "alt_id": [], "def": "A developmental defect consisting in the duplication of part of the first metatarsal bone.", "synonym": [ [ "partial duplication of the 1st long bone of foot", "partial duplication of the 1st long bone of foot" ] ], "xref": [ "UMLS:C4024049" ], "is_a": [ "HP:0010075", "HP:0010101" ], "is_obsolete": "", "replace_id": "" }, "HP:0010100": { "name": [ "complete duplication of hallux phalanx", "complete duplication of hallux phalanx" ], "alt_id": [], "def": "Complete duplication of one or more phalanx of big toe.", "synonym": [ [ "complete duplication of big toe bones", "complete duplication of big toe bone" ], [ "complete duplication of the phalanges of the hallux", "complete duplication of the phalanx of the hallux" ] ], "xref": [ "UMLS:C4021336" ], "is_a": [ "HP:0010066" ], "is_obsolete": "", "replace_id": "" }, "HP:0010101": { "name": [ "partial duplication of the phalanges of the hallux", "partial duplication of the phalanx of the hallux" ], "alt_id": [ "HP:0004678" ], "def": "", "synonym": [ [ "partial duplication of big toe", "partial duplication of big toe" ], [ "partial duplication of hallux", "partial duplication of hallux" ] ], "xref": [ "UMLS:C1855005" ], "is_a": [ "HP:0010066" ], "is_obsolete": "", "replace_id": "" }, "HP:0010102": { "name": [ "aplasia of the distal phalanx of the hallux", "aplasia of the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "absent outermost bone of big toe", "absent outermost bone of big toe" ] ], "xref": [ "UMLS:C4024048" ], "is_a": [ "HP:0010076", "HP:0010110", "HP:0010645" ], "is_obsolete": "", "replace_id": "" }, "HP:0010103": { "name": [ "short distal phalanx of hallux", "short distal phalanx of hallux" ], "alt_id": [], "def": "Underdevelopment (hypoplasia) of the distal phalanx of big toe.", "synonym": [ [ "hypoplastic / small distal phalanx of the hallux", "hypoplastic / small distal phalanx of the hallux" ], [ "small distal phalanx of big toe", "small distal phalanx of big toe" ], [ "small distal phalanx of hallux", "small distal phalanx of hallux" ], [ "small outermost bone of big toe", "small outermost bone of big toe" ] ], "xref": [ "UMLS:C4021335" ], "is_a": [ "HP:0010076", "HP:0010111" ], "is_obsolete": "", "replace_id": "" }, "HP:0010104": { "name": [ "absent first metatarsal", "absent first metatarsal" ], "alt_id": [ "HP:0006124" ], "def": "A developmental defect characterized by the absence of the first metatarsal bone.", "synonym": [ [ "absent 1st long bone of foot", "absent 1st long bone of foot" ], [ "absent 1st metatarsal", "absent 1st metatarsal" ], [ "aplasia of the 1st metatarsal", "aplasia of the 1st metatarsal" ] ], "xref": [ "UMLS:C1863382" ], "is_a": [ "HP:0010067", "HP:0010744" ], "is_obsolete": "", "replace_id": "" }, "HP:0010105": { "name": [ "short first metatarsal", "short first metatarsal" ], "alt_id": [ "HP:0004680" ], "def": "Short first metatarsal bone.", "synonym": [ [ "first metatarsal hypoplasia", "first metatarsal hypoplasia" ], [ "first metatarsals hypoplastic", "first metatarsal hypoplastic" ], [ "short 1st long bone of foot", "short 1st long bone of foot" ] ], "xref": [ "UMLS:C1841688" ], "is_a": [ "HP:0010054", "HP:0010743" ], "is_obsolete": "", "replace_id": "" }, "HP:0010106": { "name": [ "aplasia of the proximal phalanx of the hallux", "aplasia of the proximal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "absent innermost bone of big toe", "absent innermost bone of big toe" ] ], "xref": [ "UMLS:C4024047" ], "is_a": [ "HP:0010085", "HP:0010110", "HP:0100388" ], "is_obsolete": "", "replace_id": "" }, "HP:0010107": { "name": [ "short proximal phalanx of hallux", "short proximal phalanx of hallux" ], "alt_id": [ "HP:0008101", "HP:0008129" ], "def": "Underdevelopment (hypoplasia) of the proximal phalanx of big toe.", "synonym": [ [ "hypoplastic proximal phalanx of the hallux", "hypoplastic proximal phalanx of the hallux" ], [ "short innermost big toe bone", "short innermost big toe bone" ], [ "short proximal phalanges of halluces", "short proximal phalanx of hallux" ], [ "short proximal phalanx of halluces", "short proximal phalanx of hallux" ], [ "small proximal phalanx of big toe", "small proximal phalanx of big toe" ], [ "small proximal phalanx of hallux", "small proximal phalanx of hallux" ] ], "xref": [ "UMLS:C1862159" ], "is_a": [ "HP:0010085", "HP:0010111" ], "is_obsolete": "", "replace_id": "" }, "HP:0010109": { "name": [ "short hallux", "short hallux" ], "alt_id": [ "HP:0001843", "HP:0001861", "HP:0005610", "HP:0008105" ], "def": "Underdevelopment (hypoplasia) of the big toe.", "synonym": [ [ "hypoplastic big toes", "hypoplastic big toe" ], [ "hypoplastic hallux", "hypoplastic hallux" ], [ "short big toe", "short big toe" ], [ "short halluces", "short hallux" ], [ "small hallux", "small hallux" ] ], "xref": [ "UMLS:C1865992" ], "is_a": [ "HP:0001831", "HP:0008362" ], "is_obsolete": "", "replace_id": "" }, "HP:0010110": { "name": [ "aplasia of the phalanges of the hallux", "aplasia of the phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "absent bone of big toe", "absent bone of big toe" ] ], "xref": [ "UMLS:C4024046" ], "is_a": [ "HP:0010058", "HP:0010745" ], "is_obsolete": "", "replace_id": "" }, "HP:0010111": { "name": [ "short phalanx of hallux", "short phalanx of hallux" ], "alt_id": [], "def": "Underdevelopment (hypoplasia) of a phalanx of big toe.", "synonym": [ [ "hypoplastic phalanges of the hallux", "hypoplastic phalanx of the hallux" ], [ "short bone of big toe", "short bone of big toe" ] ], "xref": [ "UMLS:C4021334" ], "is_a": [ "HP:0010058", "HP:0010109", "HP:0010746" ], "is_obsolete": "", "replace_id": "" }, "HP:0010112": { "name": [ "mesoaxial foot polydactyly", "mesoaxial foot polydactyly" ], "alt_id": [], "def": "The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.", "synonym": [ [ "central polydactyly of feet", "central polydactyly of foot" ] ], "xref": [ "UMLS:C4021333" ], "is_a": [ "HP:0001829", "HP:0100260" ], "is_obsolete": "", "replace_id": "" }, "HP:0010113": { "name": [ "absent hallux epiphysis", "absent hallux epiphysis" ], "alt_id": [], "def": "Failure to form (agenesis) of one or more epiphyses of the big toe.", "synonym": [ [ "absent end part of big toe bone", "absent end part of big toe bone" ], [ "absent epiphyses of the hallux", "absent epiphysis of the hallux" ] ], "xref": [ "UMLS:C4020906" ], "is_a": [ "HP:0010056", "HP:0010162" ], "is_obsolete": "", "replace_id": "" }, "HP:0010114": { "name": [ "bracket epiphyses of the hallux", "bracket epiphysis of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "bracket shaped end part of big toe bone", "bracket shape end part of big toe bone" ] ], "xref": [ "UMLS:C4024045" ], "is_a": [ "HP:0010056", "HP:0010163" ], "is_obsolete": "", "replace_id": "" }, "HP:0010115": { "name": [ "cone - shaped epiphyses of the hallux", "cone - shaped epiphysis of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "cone - shaped end part of the big toe bone", "cone - shaped end part of the big toe bone" ] ], "xref": [ "UMLS:C4024044" ], "is_a": [ "HP:0010056", "HP:0010164" ], "is_obsolete": "", "replace_id": "" }, "HP:0010116": { "name": [ "enlarged epiphyses of the hallux", "enlarged epiphysis of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged end part of the big toe bone", "enlarged end part of the big toe bone" ] ], "xref": [ "UMLS:C4024043" ], "is_a": [ "HP:0010056", "HP:0010165" ], "is_obsolete": "", "replace_id": "" }, "HP:0010117": { "name": [ "fragmentation of the epiphyses of the hallux", "fragmentation of the epiphysis of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "fragmentation of the end part of the big toe bone", "fragmentation of the end part of the big toe bone" ] ], "xref": [ "UMLS:C4024042" ], "is_a": [ "HP:0010056", "HP:0010166" ], "is_obsolete": "", "replace_id": "" }, "HP:0010118": { "name": [ "irregular epiphyses of the hallux", "irregular epiphysis of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of big toe bone", "irregular end part of big toe bone" ] ], "xref": [ "UMLS:C4024041" ], "is_a": [ "HP:0010056", "HP:0010167" ], "is_obsolete": "", "replace_id": "" }, "HP:0010119": { "name": [ "ivory epiphyses of the hallux", "ivory epiphysis of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density of end part of the big toe bone", "increase bone density of end part of the big toe bone" ] ], "xref": [ "UMLS:C4024040" ], "is_a": [ "HP:0010056", "HP:0010168" ], "is_obsolete": "", "replace_id": "" }, "HP:0010120": { "name": [ "pseudoepiphyses of the hallux", "pseudoepiphyses of the hallux" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024039" ], "is_a": [ "HP:0010056", "HP:0010169" ], "is_obsolete": "", "replace_id": "" }, "HP:0010121": { "name": [ "small epiphyses of the hallux", "small epiphysis of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of the big toe bone", "small end part of the big toe bone" ] ], "xref": [ "UMLS:C4024038" ], "is_a": [ "HP:0010056", "HP:0010170" ], "is_obsolete": "", "replace_id": "" }, "HP:0010122": { "name": [ "stippling of the epiphyses of the hallux", "stippling of the epiphysis of the hallux" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux.", "synonym": [ [ "speckled calcifications in the end part of the big toe bone", "speckled calcification in the end part of the big toe bone" ] ], "xref": [ "UMLS:C4024037" ], "is_a": [ "HP:0010056", "HP:0010171" ], "is_obsolete": "", "replace_id": "" }, "HP:0010123": { "name": [ "triangular epiphyses of the hallux", "triangular epiphysis of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the big toe bone", "triangular end part of the big toe bone" ] ], "xref": [ "UMLS:C4024036" ], "is_a": [ "HP:0010056", "HP:0010172" ], "is_obsolete": "", "replace_id": "" }, "HP:0010124": { "name": [ "abnormality of the epiphysis of the distal phalanx of the hallux", "abnormality of the epiphysis of the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the end part of the outermost bone of the big toe bone", "abnormality of the end part of the outermost bone of the big toe bone" ] ], "xref": [ "UMLS:C4024035" ], "is_a": [ "HP:0010056" ], "is_obsolete": "", "replace_id": "" }, "HP:0010125": { "name": [ "abnormality of the epiphysis of the 1st metatarsal", "abnormality of the epiphysis of the 1st metatarsal" ], "alt_id": [], "def": "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone.", "synonym": [ [ "abnormality of the end part of the 1st long bone of foot", "abnormality of the end part of the 1st long bone of foot" ] ], "xref": [ "UMLS:C4024034" ], "is_a": [ "HP:0010056" ], "is_obsolete": "", "replace_id": "" }, "HP:0010126": { "name": [ "abnormality of the epiphysis of the proximal phalanx of the hallux", "abnormality of the epiphysis of the proximal phalanx of the hallux" ], "alt_id": [], "def": "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux.", "synonym": [ [ "abnormality of the end part of the innermost bone of the big toe", "abnormality of the end part of the innermost bone of the big toe" ] ], "xref": [ "UMLS:C4024033" ], "is_a": [ "HP:0010056" ], "is_obsolete": "", "replace_id": "" }, "HP:0010127": { "name": [ "absent epiphysis of the proximal phalanx of the hallux", "absent epiphysis of the proximal phalanx of the hallux" ], "alt_id": [], "def": "Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux.", "synonym": [ [ "absent end part of the innermost bone of the big toe", "absent end part of the innermost bone of the big toe" ] ], "xref": [ "UMLS:C4024032" ], "is_a": [ "HP:0010113", "HP:0010126" ], "is_obsolete": "", "replace_id": "" }, "HP:0010128": { "name": [ "bracket epiphysis of the proximal phalanx of the hallux", "bracket epiphysis of the proximal phalanx of the hallux" ], "alt_id": [], "def": "The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.", "synonym": [ [ "bracket shaped end part of the innermost bone of big toe", "bracket shape end part of the innermost bone of big toe" ] ], "xref": [ "UMLS:C4024031" ], "is_a": [ "HP:0010114", "HP:0010126" ], "is_obsolete": "", "replace_id": "" }, "HP:0010129": { "name": [ "cone - shaped epiphysis of the proximal phalanx of the hallux", "cone - shaped epiphysis of the proximal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "cone - shaped end part of the innermost bone of the big toe", "cone - shaped end part of the innermost bone of the big toe" ] ], "xref": [ "UMLS:C4024030" ], "is_a": [ "HP:0010115", "HP:0010126" ], "is_obsolete": "", "replace_id": "" }, "HP:0010130": { "name": [ "enlarged epiphysis of the proximal phalanx of the hallux", "enlarged epiphysis of the proximal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged end part of the innermost bone of the big toe", "enlarged end part of the innermost bone of the big toe" ] ], "xref": [ "UMLS:C4024029" ], "is_a": [ "HP:0010116", "HP:0010126" ], "is_obsolete": "", "replace_id": "" }, "HP:0010131": { "name": [ "fragmentation of the epiphysis of the proximal phalanx of the hallux", "fragmentation of the epiphysis of the proximal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "fragmentation of the end part of the innermost bone of the big toe", "fragmentation of the end part of the innermost bone of the big toe" ] ], "xref": [ "UMLS:C4024028" ], "is_a": [ "HP:0010117", "HP:0010126" ], "is_obsolete": "", "replace_id": "" }, "HP:0010132": { "name": [ "irregular epiphysis of the proximal phalanx of the hallux", "irregular epiphysis of the proximal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the innermost bone of the big toe", "irregular end part of the innermost bone of the big toe" ] ], "xref": [ "UMLS:C4024027" ], "is_a": [ "HP:0010118", "HP:0010126" ], "is_obsolete": "", "replace_id": "" }, "HP:0010133": { "name": [ "ivory epiphysis of the proximal phalanx of the hallux", "ivory epiphysis of the proximal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density of end part of the innermost bone of the big toe", "increase bone density of end part of the innermost bone of the big toe" ] ], "xref": [ "UMLS:C4024026" ], "is_a": [ "HP:0010119", "HP:0010126" ], "is_obsolete": "", "replace_id": "" }, "HP:0010134": { "name": [ "pseudoepiphysis of the proximal phalanx of the hallux", "pseudoepiphysis of the proximal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024025" ], "is_a": [ "HP:0010120", "HP:0010126" ], "is_obsolete": "", "replace_id": "" }, "HP:0010135": { "name": [ "small epiphysis of the proximal phalanx of the hallux", "small epiphysis of the proximal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of the innermost bone of the big toe", "small end part of the innermost bone of the big toe" ] ], "xref": [ "UMLS:C4024024" ], "is_a": [ "HP:0010121", "HP:0010126" ], "is_obsolete": "", "replace_id": "" }, "HP:0010136": { "name": [ "stippling of the epiphysis of the proximal phalanx of the hallux", "stippling of the epiphysis of the proximal phalanx of the hallux" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux.", "synonym": [ [ "speckled calcifications in the end part of the innermost bone of the big toe", "speckled calcification in the end part of the innermost bone of the big toe" ] ], "xref": [ "UMLS:C4024023" ], "is_a": [ "HP:0010122", "HP:0010126" ], "is_obsolete": "", "replace_id": "" }, "HP:0010137": { "name": [ "triangular epiphysis of the proximal phalanx of the hallux", "triangular epiphysis of the proximal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the innermost bone of the big toe", "triangular end part of the innermost bone of the big toe" ] ], "xref": [ "UMLS:C4024022" ], "is_a": [ "HP:0010123", "HP:0010126" ], "is_obsolete": "", "replace_id": "" }, "HP:0010138": { "name": [ "absent epiphysis of the distal phalanx of the hallux", "absent epiphysis of the distal phalanx of the hallux" ], "alt_id": [], "def": "Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux.", "synonym": [ [ "absent end part of the outermost bone of the big toe", "absent end part of the outermost bone of the big toe" ] ], "xref": [ "UMLS:C4024021" ], "is_a": [ "HP:0010113", "HP:0010124" ], "is_obsolete": "", "replace_id": "" }, "HP:0010139": { "name": [ "bracket epiphysis of the distal phalanx of the hallux", "bracket epiphysis of the distal phalanx of the hallux" ], "alt_id": [], "def": "The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.", "synonym": [ [ "bracket shaped end part of the outermost bone of big toe", "bracket shape end part of the outermost bone of big toe" ] ], "xref": [ "UMLS:C4024020" ], "is_a": [ "HP:0010114", "HP:0010124" ], "is_obsolete": "", "replace_id": "" }, "HP:0010140": { "name": [ "cone - shaped epiphysis of the distal phalanx of the hallux", "cone - shaped epiphysis of the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "cone - shaped end part of the outermost bone of the big toe", "cone - shaped end part of the outermost bone of the big toe" ] ], "xref": [ "UMLS:C4024019" ], "is_a": [ "HP:0010115", "HP:0010124" ], "is_obsolete": "", "replace_id": "" }, "HP:0010141": { "name": [ "enlarged epiphysis of the distal phalanx of the hallux", "enlarged epiphysis of the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged end part of the outermost bone of the big toe", "enlarged end part of the outermost bone of the big toe" ] ], "xref": [ "UMLS:C4024018" ], "is_a": [ "HP:0010116", "HP:0010124" ], "is_obsolete": "", "replace_id": "" }, "HP:0010142": { "name": [ "fragmentation of the epiphysis of the distal phalanx of the hallux", "fragmentation of the epiphysis of the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "fragmentation of the end part of the outermost bone of the big toe", "fragmentation of the end part of the outermost bone of the big toe" ] ], "xref": [ "UMLS:C4024017" ], "is_a": [ "HP:0010117", "HP:0010124" ], "is_obsolete": "", "replace_id": "" }, "HP:0010143": { "name": [ "irregular epiphysis of the distal phalanx of the hallux", "irregular epiphysis of the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the outermost bone of the big toe", "irregular end part of the outermost bone of the big toe" ] ], "xref": [ "UMLS:C4024016" ], "is_a": [ "HP:0010118", "HP:0010124" ], "is_obsolete": "", "replace_id": "" }, "HP:0010144": { "name": [ "ivory epiphysis of the distal phalanx of the hallux", "ivory epiphysis of the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density of end part of the outermost bone of the big toe", "increase bone density of end part of the outermost bone of the big toe" ] ], "xref": [ "UMLS:C4024015" ], "is_a": [ "HP:0010119", "HP:0010124" ], "is_obsolete": "", "replace_id": "" }, "HP:0010145": { "name": [ "pseudoepiphysis of the distal phalanx of the hallux", "pseudoepiphysis of the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024014" ], "is_a": [ "HP:0010120", "HP:0010124" ], "is_obsolete": "", "replace_id": "" }, "HP:0010146": { "name": [ "small epiphysis of the distal phalanx of the hallux", "small epiphysis of the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of the outermost bone of the big toe", "small end part of the outermost bone of the big toe" ] ], "xref": [ "UMLS:C4024013" ], "is_a": [ "HP:0010121", "HP:0010124" ], "is_obsolete": "", "replace_id": "" }, "HP:0010147": { "name": [ "stippling of the epiphysis of the distal phalanx of the hallux", "stippling of the epiphysis of the distal phalanx of the hallux" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux.", "synonym": [ [ "speckled calcifications in the end part of the outermost bone of the big toe", "speckled calcification in the end part of the outermost bone of the big toe" ] ], "xref": [ "UMLS:C4024012" ], "is_a": [ "HP:0010122", "HP:0010124" ], "is_obsolete": "", "replace_id": "" }, "HP:0010148": { "name": [ "triangular epiphysis of the distal phalanx of the hallux", "triangular epiphysis of the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the outermost bone of the big toe", "triangular end part of the outermost bone of the big toe" ] ], "xref": [ "UMLS:C4024011" ], "is_a": [ "HP:0010123", "HP:0010124" ], "is_obsolete": "", "replace_id": "" }, "HP:0010149": { "name": [ "absent epiphysis of the 1st metatarsal", "absent epiphysis of the 1st metatarsal" ], "alt_id": [], "def": "Failure to form (agenesis) of the epiphysis of the 1st metatarsal.", "synonym": [ [ "absent end part of the 1st long bone of foot", "absent end part of the 1st long bone of foot" ] ], "xref": [ "UMLS:C4024010" ], "is_a": [ "HP:0010125" ], "is_obsolete": "", "replace_id": "" }, "HP:0010150": { "name": [ "bracket epiphysis of the 1st metatarsal", "bracket epiphysis of the 1st metatarsal" ], "alt_id": [], "def": "The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form.", "synonym": [ [ "bracket shaped end part of 1st long bone of foot", "bracket shape end part of 1st long bone of foot" ] ], "xref": [ "UMLS:C4024009" ], "is_a": [ "HP:0010125" ], "is_obsolete": "", "replace_id": "" }, "HP:0010151": { "name": [ "cone - shaped epiphysis of the 1st metatarsal", "cone - shaped epiphysis of the 1st metatarsal" ], "alt_id": [], "def": "A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot.", "synonym": [ [ "cone - shaped end part of the 1st long bone of foot", "cone - shaped end part of the 1st long bone of foot" ] ], "xref": [ "UMLS:C4024008" ], "is_a": [ "HP:0010054", "HP:0010125", "HP:0010630" ], "is_obsolete": "", "replace_id": "" }, "HP:0010152": { "name": [ "enlarged epiphysis of the 1st metatarsal", "enlarged epiphysis of the 1st metatarsal" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged end part of the 1st long bone of foot", "enlarged end part of the 1st long bone of foot" ] ], "xref": [ "UMLS:C4024007" ], "is_a": [ "HP:0010116", "HP:0010125" ], "is_obsolete": "", "replace_id": "" }, "HP:0010153": { "name": [ "fragmentation of the epiphysis of the 1st metatarsal", "fragmentation of the epiphysis of the 1st metatarsal" ], "alt_id": [], "def": "", "synonym": [ [ "fragmentation of the end part of the 1st long bone of foot", "fragmentation of the end part of the 1st long bone of foot" ] ], "xref": [ "UMLS:C4024006" ], "is_a": [ "HP:0010117", "HP:0010125" ], "is_obsolete": "", "replace_id": "" }, "HP:0010154": { "name": [ "irregular epiphysis of the 1st metatarsal", "irregular epiphysis of the 1st metatarsal" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the 1st long bone of foot", "irregular end part of the 1st long bone of foot" ] ], "xref": [ "UMLS:C4024005" ], "is_a": [ "HP:0010118", "HP:0010125" ], "is_obsolete": "", "replace_id": "" }, "HP:0010155": { "name": [ "ivory epiphysis of the 1st metatarsal", "ivory epiphysis of the 1st metatarsal" ], "alt_id": [], "def": "The epiphysis of the 1st metatarsal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.", "synonym": [ [ "increased bone density of end part of the 1st long bone of foot", "increase bone density of end part of the 1st long bone of foot" ] ], "xref": [ "UMLS:C4024004" ], "is_a": [ "HP:0010119", "HP:0010125" ], "is_obsolete": "", "replace_id": "" }, "HP:0010156": { "name": [ "pseudoepiphysis of the 1st metatarsal", "pseudoepiphysis of the 1st metatarsal" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4024003" ], "is_a": [ "HP:0010125" ], "is_obsolete": "", "replace_id": "" }, "HP:0010157": { "name": [ "small epiphysis of the 1st metatarsal", "small epiphysis of the 1st metatarsal" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of the 1st long bone of foot", "small end part of the 1st long bone of foot" ] ], "xref": [ "UMLS:C4024002" ], "is_a": [ "HP:0010125" ], "is_obsolete": "", "replace_id": "" }, "HP:0010158": { "name": [ "stippling of the epiphysis of the 1st metatarsal", "stippling of the epiphysis of the 1st metatarsal" ], "alt_id": [], "def": "", "synonym": [ [ "speckled calcifications in the end part of the 1st long bone of foot", "speckled calcification in the end part of the 1st long bone of foot" ] ], "xref": [ "UMLS:C4024001" ], "is_a": [ "HP:0010125" ], "is_obsolete": "", "replace_id": "" }, "HP:0010159": { "name": [ "triangular epiphysis of the 1st metatarsal", "triangular epiphysis of the 1st metatarsal" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the 1st long bone of foot", "triangular end part of the 1st long bone of foot" ] ], "xref": [ "UMLS:C4024000" ], "is_a": [ "HP:0010125" ], "is_obsolete": "", "replace_id": "" }, "HP:0010160": { "name": [ "abnormality of the epiphyses of the toes", "abnormality of the epiphysis of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the end part of the toe bones", "abnormality of the end part of the toe bone" ] ], "xref": [ "UMLS:C4023999" ], "is_a": [ "HP:0001780", "HP:0010631" ], "is_obsolete": "", "replace_id": "" }, "HP:0010161": { "name": [ "abnormality of the phalanges of the toes", "abnormality of the phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the long bones of the toes", "abnormality of the long bone of the toe" ] ], "xref": [ "UMLS:C4023998" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0010162": { "name": [ "absent epiphyses of the toes", "absent epiphysis of the toe" ], "alt_id": [], "def": "Absence of the epiphyses of the phalanges of the toes.", "synonym": [ [ "absent end part of the toe bones", "absent end part of the toe bone" ] ], "xref": [ "UMLS:C4023997" ], "is_a": [ "HP:0010160", "HP:0010577" ], "is_obsolete": "", "replace_id": "" }, "HP:0010163": { "name": [ "bracket epiphyses of the toes", "bracket epiphysis of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "bracket shaped end part of the toe bones", "bracket shape end part of the toe bone" ] ], "xref": [ "UMLS:C4023996" ], "is_a": [ "HP:0010160", "HP:0010578" ], "is_obsolete": "", "replace_id": "" }, "HP:0010164": { "name": [ "cone - shaped epiphyses of the toes", "cone - shaped epiphysis of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "cone - shaped end part of the toe bones", "cone - shaped end part of the toe bone" ] ], "xref": [ "UMLS:C4023995" ], "is_a": [ "HP:0010160", "HP:0010579" ], "is_obsolete": "", "replace_id": "" }, "HP:0010165": { "name": [ "enlarged epiphyses of the toes", "enlarged epiphysis of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged end part of the toe bones", "enlarged end part of the toe bone" ] ], "xref": [ "UMLS:C4023994" ], "is_a": [ "HP:0010160", "HP:0010580" ], "is_obsolete": "", "replace_id": "" }, "HP:0010166": { "name": [ "fragmentation of the epiphyses of the toes", "fragmentation of the epiphysis of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "fragmentation of the end part of the toe bones", "fragmentation of the end part of the toe bone" ] ], "xref": [ "UMLS:C4023993" ], "is_a": [ "HP:0010160", "HP:0100168" ], "is_obsolete": "", "replace_id": "" }, "HP:0010167": { "name": [ "irregular epiphyses of the toes", "irregular epiphysis of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the toe bones", "irregular end part of the toe bone" ] ], "xref": [ "UMLS:C4023992" ], "is_a": [ "HP:0010160", "HP:0010582" ], "is_obsolete": "", "replace_id": "" }, "HP:0010168": { "name": [ "ivory epiphyses of the toes", "ivory epiphysis of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density of end part of the toes", "increase bone density of end part of the toe" ] ], "xref": [ "UMLS:C4023991" ], "is_a": [ "HP:0010160", "HP:0010583" ], "is_obsolete": "", "replace_id": "" }, "HP:0010169": { "name": [ "pseudoepiphyses of the toes", "pseudoepiphyses of the toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023990" ], "is_a": [ "HP:0010160", "HP:0010584" ], "is_obsolete": "", "replace_id": "" }, "HP:0010170": { "name": [ "small epiphyses of the toes", "small epiphysis of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of the toe bones", "small end part of the toe bone" ] ], "xref": [ "UMLS:C4023989" ], "is_a": [ "HP:0010160", "HP:0010585" ], "is_obsolete": "", "replace_id": "" }, "HP:0010171": { "name": [ "epiphyseal stippling of toe phalanges", "epiphyseal stippling of toe phalanx" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes.", "synonym": [ [ "speckled calcifications in long toe bones", "speckled calcification in long toe bone" ], [ "stippling of the epiphyses of the toes", "stippling of the epiphysis of the toe" ] ], "xref": [ "UMLS:C4021332" ], "is_a": [ "HP:0010160", "HP:0010655" ], "is_obsolete": "", "replace_id": "" }, "HP:0010172": { "name": [ "triangular epiphyses of the toes", "triangular epiphysis of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the toe bones", "triangular end part of the toe bone" ] ], "xref": [ "UMLS:C4023988" ], "is_a": [ "HP:0010160", "HP:0010587" ], "is_obsolete": "", "replace_id": "" }, "HP:0010173": { "name": [ "aplasia / hypoplasia of the phalanges of the toes", "aplasia / hypoplasia of the phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small toe bones", "absent / small toe bone" ], [ "absent / underdeveloped toe bones", "absent / underdevelop toe bone" ] ], "xref": [ "UMLS:C4023987" ], "is_a": [ "HP:0006494", "HP:0010161" ], "is_obsolete": "", "replace_id": "" }, "HP:0010174": { "name": [ "broad phalanx of the toes", "broad phalanx of the toe" ], "alt_id": [], "def": "Increased width of phalanx of one or more toes.", "synonym": [ [ "wide toe bones", "wide toe bone" ] ], "xref": [ "UMLS:C4023986" ], "is_a": [ "HP:0006009", "HP:0010161", "HP:0040069" ], "is_obsolete": "", "replace_id": "" }, "HP:0010175": { "name": [ "bullet - shaped toe phalanx", "bullet - shape toe phalanx" ], "alt_id": [], "def": "An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped phalanges of the toes", "bullet - shaped phalanx of the toe" ], [ "bullet - shaped toe bone", "bullet - shape toe bone" ] ], "xref": [ "UMLS:C4021331" ], "is_a": [ "HP:0010161" ], "is_obsolete": "", "replace_id": "" }, "HP:0010176": { "name": [ "curved toe phalanx", "curve toe phalanx" ], "alt_id": [], "def": "A deviation from the normal straight form of one or more toe phalanges.", "synonym": [ [ "curved phalanges of the toes", "curve phalanx of the toe" ], [ "curved toe bone", "curve toe bone" ] ], "xref": [ "UMLS:C4021330" ], "is_a": [ "HP:0010161" ], "is_obsolete": "", "replace_id": "" }, "HP:0010177": { "name": [ "osteolytic defects of the phalanges of the toes", "osteolytic defect of the phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023985" ], "is_a": [ "HP:0009134", "HP:0010161" ], "is_obsolete": "", "replace_id": "" }, "HP:0010178": { "name": [ "patchy sclerosis of toe phalanx", "patchy sclerosis of toe phalanx" ], "alt_id": [], "def": "Uneven (irregular) increase in bone density of one or more of the phalanges of the foot.", "synonym": [ [ "patchy sclerosis of the phalanges of the toes", "patchy sclerosis of the phalanx of the toe" ], [ "uneven increase in bone density in toe bone", "uneven increase in bone density in toe bone" ] ], "xref": [ "UMLS:C4021329" ], "is_a": [ "HP:0005686", "HP:0100924" ], "is_obsolete": "", "replace_id": "" }, "HP:0010179": { "name": [ "symphalangism affecting the phalanges of the toes", "symphalangism affect the phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused toe bones", "fuse toe bone" ] ], "xref": [ "UMLS:C4023984" ], "is_a": [ "HP:0010161" ], "is_obsolete": "", "replace_id": "" }, "HP:0010180": { "name": [ "triangular shaped phalanges of the toes", "triangular shape phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular shaped toe bones", "triangular shape toe bone" ] ], "xref": [ "UMLS:C4023983" ], "is_a": [ "HP:0010161" ], "is_obsolete": "", "replace_id": "" }, "HP:0010181": { "name": [ "duplication of phalanx of toe", "duplication of phalanx of toe" ], "alt_id": [], "def": "Partial/complete duplication of one or more phalanx of toe.", "synonym": [ [ "duplicated toe bone", "duplicate toe bone" ], [ "partial / complete duplication of the phalanges of the toes", "partial / complete duplication of the phalanx of the toe" ] ], "xref": [ "UMLS:C4021328" ], "is_a": [ "HP:0010161" ], "is_obsolete": "", "replace_id": "" }, "HP:0010182": { "name": [ "abnormality of the distal phalanges of the toes", "abnormality of the distal phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the outermost bone of the toes", "abnormality of the outermost bone of the toe" ] ], "xref": [ "UMLS:C4023982" ], "is_a": [ "HP:0010161" ], "is_obsolete": "", "replace_id": "" }, "HP:0010183": { "name": [ "abnormality of the middle phalanges of the toes", "abnormality of the middle phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal middle bones of toe", "abnormal middle bone of toe" ] ], "xref": [ "UMLS:C4023981" ], "is_a": [ "HP:0010161" ], "is_obsolete": "", "replace_id": "" }, "HP:0010184": { "name": [ "abnormality of toe proximal phalanx", "abnormality of toe proximal phalanx" ], "alt_id": [], "def": "A morphological anomaly of one or more proximal phalanges of one or more toes.", "synonym": [ [ "abnormal innermost toe bone", "abnormal innermost toe bone" ], [ "abnormality of the proximal phalanges of the toes", "abnormality of the proximal phalanx of the toe" ] ], "xref": [ "UMLS:C4021327" ], "is_a": [ "HP:0010161" ], "is_obsolete": "", "replace_id": "" }, "HP:0010185": { "name": [ "aplasia / hypoplasia of the distal phalanges of the toes", "aplasia / hypoplasia of the distal phalanx of the toe" ], "alt_id": [ "HP:0005735", "HP:0005818" ], "def": "Absence or underdevelopment of the distal phalanges of the toes.", "synonym": [ [ "absent / hypoplastic terminal phalanges of toes", "absent / hypoplastic terminal phalanx of toe" ], [ "absent / small outermost bones of toe", "absent / small outermost bone of toe" ], [ "absent / underdeveloped outermost bones of toe", "absent / underdevelop outermost bone of toe" ], [ "hypoplasia / agenesis of distal phalanges of toes", "hypoplasia / agenesis of distal phalanx of toe" ] ], "xref": [ "UMLS:C4020773", "UMLS:C4021326" ], "is_a": [ "HP:0010173", "HP:0010182", "HP:0010760" ], "is_obsolete": "", "replace_id": "" }, "HP:0010186": { "name": [ "broad distal phalanx of the toes", "broad distal phalanx of the toe" ], "alt_id": [], "def": "Increased width of the distal phalanx of toe of one or more toes.", "synonym": [ [ "broad outermost bone of the toe", "broad outermost bone of the toe" ], [ "wide outermost bone of the toe", "wide outermost bone of the toe" ] ], "xref": [ "UMLS:C4023980" ], "is_a": [ "HP:0010174", "HP:0010182" ], "is_obsolete": "", "replace_id": "" }, "HP:0010187": { "name": [ "bullet - shaped distal toe phalanx", "bullet - shaped distal toe phalanx" ], "alt_id": [], "def": "An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped distal phalanges of the toes", "bullet - shaped distal phalanx of the toe" ], [ "bullet - shaped outermost bone of the toe", "bullet - shape outermost bone of the toe" ] ], "xref": [ "UMLS:C4021325" ], "is_a": [ "HP:0010175", "HP:0010182" ], "is_obsolete": "", "replace_id": "" }, "HP:0010188": { "name": [ "curved distal toe phalanx", "curve distal toe phalanx" ], "alt_id": [], "def": "A deviation from the normal straight form of one or more distal toe phalanges.", "synonym": [ [ "curved distal phalanges of the toes", "curve distal phalanx of the toe" ], [ "curved outermost bone of the toe", "curve outermost bone of the toe" ] ], "xref": [ "UMLS:C4021324" ], "is_a": [ "HP:0010176", "HP:0010182" ], "is_obsolete": "", "replace_id": "" }, "HP:0010189": { "name": [ "osteolytic defects of the distal phalanges of the toes", "osteolytic defect of the distal phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023979" ], "is_a": [ "HP:0010177", "HP:0010182" ], "is_obsolete": "", "replace_id": "" }, "HP:0010190": { "name": [ "patchy sclerosis of distal toe phalanx", "patchy sclerosis of distal toe phalanx" ], "alt_id": [], "def": "Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.", "synonym": [ [ "patchy sclerosis of the distal phalanges of the toes", "patchy sclerosis of the distal phalanx of the toe" ], [ "uneven increase in bone density in outermost toe bone", "uneven increase in bone density in outermost toe bone" ] ], "xref": [ "UMLS:C4021323" ], "is_a": [ "HP:0010178", "HP:0100948" ], "is_obsolete": "", "replace_id": "" }, "HP:0010191": { "name": [ "symphalangism affecting the distal phalanges of the toes", "symphalangism affect the distal phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused outermost bones of toes", "fuse outermost bone of toe" ] ], "xref": [ "UMLS:C4023978" ], "is_a": [ "HP:0010179", "HP:0010182" ], "is_obsolete": "", "replace_id": "" }, "HP:0010192": { "name": [ "triangular shaped distal phalanges of the toes", "triangular shape distal phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular shaped outermost bone of the toes", "triangular shape outermost bone of the toe" ] ], "xref": [ "UMLS:C4023977" ], "is_a": [ "HP:0010180", "HP:0010182" ], "is_obsolete": "", "replace_id": "" }, "HP:0010193": { "name": [ "duplication of distal phalanx of toe", "duplication of distal phalanx of toe" ], "alt_id": [], "def": "A partial or complete duplication of one or more distal phalanx of toe.", "synonym": [ [ "duplication of outermost bone of toe", "duplication of outermost bone of toe" ], [ "partial / complete duplication of the distal phalanges of the toes", "partial / complete duplication of the distal phalanx of the toe" ] ], "xref": [ "UMLS:C4021322" ], "is_a": [ "HP:0010182" ], "is_obsolete": "", "replace_id": "" }, "HP:0010194": { "name": [ "aplasia / hypoplasia of the middle phalanges of the toes", "aplasia / hypoplasia of the middle phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small middle bones of toe", "absent / small middle bone of toe" ], [ "absent / underdeveloped middle bones of toe", "absent / underdevelop middle bone of toe" ] ], "xref": [ "UMLS:C4023976" ], "is_a": [ "HP:0010173", "HP:0010183" ], "is_obsolete": "", "replace_id": "" }, "HP:0010195": { "name": [ "broad middle phalanges of the toes", "broad middle phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "broad middle bones of the toes", "broad middle bone of the toe" ] ], "xref": [ "UMLS:C4023975" ], "is_a": [ "HP:0010174", "HP:0010183" ], "is_obsolete": "", "replace_id": "" }, "HP:0010196": { "name": [ "bullet - shaped middle toe phalanx", "bullet - shape middle toe phalanx" ], "alt_id": [], "def": "An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped middle bones of the toes", "bullet - shape middle bone of the toe" ], [ "bullet - shaped middle phalanges of the toes", "bullet - shape middle phalanx of the toe" ] ], "xref": [ "UMLS:C4021321" ], "is_a": [ "HP:0010175", "HP:0010183" ], "is_obsolete": "", "replace_id": "" }, "HP:0010197": { "name": [ "curved middle toe phalanx", "curve middle toe phalanx" ], "alt_id": [], "def": "A deviation from the normal straight form of one or more middle toe phalanges.", "synonym": [ [ "curved middle bones of the toes", "curve middle bone of the toe" ], [ "curved middle phalanges of the toes", "curve middle phalanx of the toe" ] ], "xref": [ "UMLS:C4021320" ], "is_a": [ "HP:0010176", "HP:0010183" ], "is_obsolete": "", "replace_id": "" }, "HP:0010198": { "name": [ "osteolytic defects of the middle phalanges of the toes", "osteolytic defect of the middle phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023974" ], "is_a": [ "HP:0010177", "HP:0010183" ], "is_obsolete": "", "replace_id": "" }, "HP:0010199": { "name": [ "patchy sclerosis of middle toe phalanx", "patchy sclerosis of middle toe phalanx" ], "alt_id": [], "def": "Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.", "synonym": [ [ "patchy sclerosis of the middle phalanges of the toes", "patchy sclerosis of the middle phalanx of the toe" ], [ "uneven increase in bone density in middle toe bone", "uneven increase in bone density in middle toe bone" ] ], "xref": [ "UMLS:C4021319" ], "is_a": [ "HP:0010178", "HP:0100947" ], "is_obsolete": "", "replace_id": "" }, "HP:0010200": { "name": [ "symphalangism affecting the middle phalanges of the toes", "symphalangism affect the middle phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused middle bones of toes", "fuse middle bone of toe" ] ], "xref": [ "UMLS:C4023973" ], "is_a": [ "HP:0010179", "HP:0010183" ], "is_obsolete": "", "replace_id": "" }, "HP:0010201": { "name": [ "triangular shaped middle phalanges of the toes", "triangular shape middle phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular shaped middle bones of toes", "triangular shape middle bone of toe" ] ], "xref": [ "UMLS:C4023972" ], "is_a": [ "HP:0010180", "HP:0010183" ], "is_obsolete": "", "replace_id": "" }, "HP:0010202": { "name": [ "duplication of middle phalanx of toe", "duplication of middle phalanx of toe" ], "alt_id": [], "def": "Partial or complete duplication of a middle phalanx of toe.", "synonym": [ [ "partial / complete duplication of the middle bones of the toes", "partial / complete duplication of the middle bone of the toe" ], [ "partial / complete duplication of the middle phalanges of the toes", "partial / complete duplication of the middle phalanx of the toe" ] ], "xref": [ "UMLS:C4021318" ], "is_a": [ "HP:0010183" ], "is_obsolete": "", "replace_id": "" }, "HP:0010203": { "name": [ "aplasia / hypoplasia of proximal toe phalanx", "aplasia / hypoplasia of proximal toe phalanx" ], "alt_id": [], "def": "Absence (agenesis) or underdevelopment of the proximal phalanx of the toe.", "synonym": [ [ "absent / small innermost toe bones", "absent / small innermost toe bone" ], [ "absent / underdeveloped innermost toe bones", "absent / underdevelop innermost toe bone" ], [ "aplasia / hypoplasia of the proximal phalanges of the toes", "aplasia / hypoplasia of the proximal phalanx of the toe" ] ], "xref": [ "UMLS:C4021317" ], "is_a": [ "HP:0010173", "HP:0010184" ], "is_obsolete": "", "replace_id": "" }, "HP:0010204": { "name": [ "broad proximal phalanx of toe", "broad proximal phalanx of toe" ], "alt_id": [], "def": "An increase in width of one ore more proximal toe phalanges.", "synonym": [ [ "broad innermost toe bone", "broad innermost toe bone" ] ], "xref": [ "UMLS:C4023971" ], "is_a": [ "HP:0010174", "HP:0010184" ], "is_obsolete": "", "replace_id": "" }, "HP:0010205": { "name": [ "bullet - shaped proximal toe phalanx", "bullet - shape proximal toe phalanx" ], "alt_id": [], "def": "An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped innermost toe bone", "bullet - shape innermost toe bone" ], [ "bullet - shaped proximal phalanges of the toes", "bullet - shape proximal phalanx of the toe" ], [ "bullet - shaped proximal phalanges of toe", "bullet - shape proximal phalanx of toe" ] ], "xref": [ "UMLS:C4021316" ], "is_a": [ "HP:0010175", "HP:0010184" ], "is_obsolete": "", "replace_id": "" }, "HP:0010206": { "name": [ "curved proximal toe phalanx", "curve proximal toe phalanx" ], "alt_id": [], "def": "A deviation from the normal straight shape of a proximal phalanx of one or more toes.", "synonym": [ [ "curved innermost toe bones", "curve innermost toe bone" ], [ "curved proximal phalanges of the toes", "curve proximal phalanx of the toe" ] ], "xref": [ "UMLS:C4021315" ], "is_a": [ "HP:0010176", "HP:0010184" ], "is_obsolete": "", "replace_id": "" }, "HP:0010207": { "name": [ "osteolytic defect of the proximal toe phalanx", "osteolytic defect of the proximal toe phalanx" ], "alt_id": [], "def": "Dissolution or degeneration of bone tissue of the proximal toe phalanx.", "synonym": [ [ "osteolytic defects of the proximal phalanges of the toes", "osteolytic defect of the proximal phalanx of the toe" ] ], "xref": [ "UMLS:C4021314" ], "is_a": [ "HP:0010177", "HP:0010184" ], "is_obsolete": "", "replace_id": "" }, "HP:0010208": { "name": [ "patchy sclerosis of proximal toe phalanx", "patchy sclerosis of proximal toe phalanx" ], "alt_id": [], "def": "Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.", "synonym": [ [ "patchy sclerosis of the proximal phalanges of the toes", "patchy sclerosis of the proximal phalanx of the toe" ], [ "uneven increase in bone density in innermost toe bone", "uneven increase in bone density in innermost toe bone" ] ], "xref": [ "UMLS:C4021313" ], "is_a": [ "HP:0010178", "HP:0100946" ], "is_obsolete": "", "replace_id": "" }, "HP:0010209": { "name": [ "symphalangism affecting the proximal phalanges of the toes", "symphalangism affect the proximal phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused innermost bones of toes", "fuse innermost bone of toe" ] ], "xref": [ "UMLS:C4023970" ], "is_a": [ "HP:0010179", "HP:0010184" ], "is_obsolete": "", "replace_id": "" }, "HP:0010210": { "name": [ "triangular shaped proximal phalanges of the toes", "triangular shape proximal phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular shaped innermost toe bones", "triangular shape innermost toe bone" ] ], "xref": [ "UMLS:C4023969" ], "is_a": [ "HP:0010180", "HP:0010184" ], "is_obsolete": "", "replace_id": "" }, "HP:0010211": { "name": [ "duplication of proximal phalanx of toe", "duplication of proximal phalanx of toe" ], "alt_id": [], "def": "Partial/complete duplication of a proximal phalanx of toe.", "synonym": [ [ "duplication of innermost toe bones", "duplication of innermost toe bone" ], [ "partial / complete duplication of the proximal phalanges of the toes", "partial / complete duplication of the proximal phalanx of the toe" ] ], "xref": [ "UMLS:C4021312" ], "is_a": [ "HP:0010184" ], "is_obsolete": "", "replace_id": "" }, "HP:0010212": { "name": [ "flexion contracture of the hallux", "flexion contracture of the hallux" ], "alt_id": [], "def": "One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively.", "synonym": [ [ "joint contracture of the big toe", "joint contracture of the big toe" ], [ "joint contracture of the hallux", "joint contracture of the hallux" ] ], "xref": [ "UMLS:C4021311" ], "is_a": [ "HP:0001844", "HP:0005830" ], "is_obsolete": "", "replace_id": "" }, "HP:0010213": { "name": [ "contracture of the tarsometatarsal joint of the hallux", "contracture of the tarsometatarsal joint of the hallux" ], "alt_id": [], "def": "Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints.", "synonym": [], "xref": [ "UMLS:C4023968" ], "is_a": [ "HP:0010212" ], "is_obsolete": "", "replace_id": "" }, "HP:0010214": { "name": [ "contracture of the interphalangeal joint of the hallux", "contracture of the interphalangeal joint of the hallux" ], "alt_id": [], "def": "The interphalangeal joint of the big toe cannot be straightened actively or passively.", "synonym": [], "xref": [ "UMLS:C4023967" ], "is_a": [ "HP:0010212" ], "is_obsolete": "", "replace_id": "" }, "HP:0010215": { "name": [ "contractures of the metatarsophalangeal joint of the hallux", "contracture of the metatarsophalangeal joint of the hallux" ], "alt_id": [], "def": "The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively.", "synonym": [], "xref": [ "UMLS:C4023966" ], "is_a": [ "HP:0010212" ], "is_obsolete": "", "replace_id": "" }, "HP:0010219": { "name": [ "structural foot deformity", "structural foot deformity" ], "alt_id": [], "def": "A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.", "synonym": [], "xref": [ "UMLS:C4023965" ], "is_a": [ "HP:0001760" ], "is_obsolete": "", "replace_id": "" }, "HP:0010220": { "name": [ "abnormality of the epiphysis of the 2nd metacarpal", "abnormality of the epiphysis of the 2nd metacarpal" ], "alt_id": [], "def": "Any abnormality of the epiphysis of the second metacarpal bone.", "synonym": [ [ "abnormality of the end part of the 2nd long bone of hand", "abnormality of the end part of the 2nd long bone of hand" ] ], "xref": [ "UMLS:C4023964" ], "is_a": [ "HP:0010010" ], "is_obsolete": "", "replace_id": "" }, "HP:0010221": { "name": [ "obsolete pseudoepiphysis of the 2nd metacarpal", "obsolete pseudoepiphysis of the 2nd metacarpal" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0006179" }, "HP:0010222": { "name": [ "abnormality of the epiphysis of the 3rd metacarpal", "abnormality of the epiphysis of the 3rd metacarpal" ], "alt_id": [], "def": "Any abnormality of the epiphysis of the third metacarpal bone.", "synonym": [ [ "abnormality of the end part of the 3rd long bone of hand", "abnormality of the end part of the 3rd long bone of hand" ] ], "xref": [ "UMLS:C4023962" ], "is_a": [ "HP:0010011" ], "is_obsolete": "", "replace_id": "" }, "HP:0010223": { "name": [ "pseudoepiphysis of the 3rd metacarpal", "pseudoepiphysis of the 3rd metacarpal" ], "alt_id": [], "def": "The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.", "synonym": [], "xref": [ "UMLS:C4023961" ], "is_a": [ "HP:0010222" ], "is_obsolete": "", "replace_id": "" }, "HP:0010224": { "name": [ "abnormality of the epiphysis of the 4th metacarpal", "abnormality of the epiphysis of the 4th metacarpal" ], "alt_id": [], "def": "Any abnormality of the epiphysis of the 4th metacarpal bone.", "synonym": [ [ "abnormality of the end part of the 4th long bone of hand", "abnormality of the end part of the 4th long bone of hand" ] ], "xref": [ "UMLS:C4023960" ], "is_a": [ "HP:0010012" ], "is_obsolete": "", "replace_id": "" }, "HP:0010225": { "name": [ "pseudoepiphysis of the 4th metacarpal", "pseudoepiphysis of the 4th metacarpal" ], "alt_id": [], "def": "The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.", "synonym": [], "xref": [ "UMLS:C4023959" ], "is_a": [ "HP:0010224" ], "is_obsolete": "", "replace_id": "" }, "HP:0010226": { "name": [ "abnormality of the epiphysis of the 5th metacarpal", "abnormality of the epiphysis of the 5th metacarpal" ], "alt_id": [], "def": "Any abnormality of the epiphysis of the fifth metacarpal bone.", "synonym": [ [ "abnormality of the end part of the long bone of little finger", "abnormality of the end part of the long bone of little finger" ], [ "abnormality of the end part of the long bone of pinkie finger", "abnormality of the end part of the long bone of pinkie finger" ], [ "abnormality of the end part of the long bone of pinky finger", "abnormality of the end part of the long bone of pinky finger" ] ], "xref": [ "UMLS:C4023958" ], "is_a": [ "HP:0010013" ], "is_obsolete": "", "replace_id": "" }, "HP:0010227": { "name": [ "pseudoepiphysis of the 5th metacarpal", "pseudoepiphysis of the 5th metacarpal" ], "alt_id": [], "def": "The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.", "synonym": [], "xref": [ "UMLS:C4023957" ], "is_a": [ "HP:0010226" ], "is_obsolete": "", "replace_id": "" }, "HP:0010228": { "name": [ "absent epiphyses of the phalanges of the hand", "absent epiphysis of the phalanx of the hand" ], "alt_id": [ "HP:0009359" ], "def": "Absence of one or more epiphyses of the phalanges of the fingers.", "synonym": [ [ "absent end part of fingers", "absent end part of finger" ], [ "absent epiphyses of the fingers", "absent epiphysis of the finger" ] ], "xref": [ "UMLS:C4021310" ], "is_a": [ "HP:0005920", "HP:0010577" ], "is_obsolete": "", "replace_id": "" }, "HP:0010229": { "name": [ "bracket epiphyses of the phalanges of the hand", "bracket epiphysis of the phalanx of the hand" ], "alt_id": [ "HP:0009360" ], "def": "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket epiphyses of the fingers", "bracket epiphysis of the finger" ], [ "bracket shaped end part of finger bones", "bracket shape end part of finger bone" ] ], "xref": [ "UMLS:C4021309" ], "is_a": [ "HP:0005920", "HP:0010578" ], "is_obsolete": "", "replace_id": "" }, "HP:0010230": { "name": [ "cone - shaped epiphyses of the phalanges of the hand", "cone - shaped epiphysis of the phalanx of the hand" ], "alt_id": [ "HP:0001175", "HP:0001207", "HP:0001242", "HP:0003766", "HP:0005803", "HP:0009361" ], "def": "A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.", "synonym": [ [ "cone - shaped end part of finger bones", "cone - shaped end part of finger bone" ], [ "cone - shaped epiphyses of hand", "cone - shaped epiphysis of hand" ], [ "cone - shaped epiphyses of phalanges", "cone - shaped epiphysis of phalanx" ], [ "cone - shaped epiphyses of the fingers", "cone - shaped epiphysis of the finger" ], [ "cone - shaped phalangeal epiphyses", "cone - shaped phalangeal epiphysis" ], [ "coned epiphyses", "con epiphysis" ], [ "coned epiphyses of hands", "coned epiphysis of hand" ], [ "conical phalangeal epiphyses", "conical phalangeal epiphysis" ], [ "phalangeal cone - shaped epiphyses", "phalangeal cone - shaped epiphysis" ] ], "xref": [ "UMLS:C1859480" ], "is_a": [ "HP:0005920", "HP:0010579" ], "is_obsolete": "", "replace_id": "" }, "HP:0010231": { "name": [ "enlarged epiphyses of the phalanges of the hand", "enlarged epiphysis of the phalanx of the hand" ], "alt_id": [ "HP:0006023", "HP:0009362" ], "def": "Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.", "synonym": [ [ "enlarged end part of finger bones", "enlarged end part of finger bone" ], [ "enlarged epiphyses of the fingers", "enlarged epiphysis of the finger" ], [ "enlarged phalangeal epiphyses", "enlarge phalangeal epiphysis" ] ], "xref": [ "UMLS:C1865036" ], "is_a": [ "HP:0005920", "HP:0010580" ], "is_obsolete": "", "replace_id": "" }, "HP:0010232": { "name": [ "fragmentation of the epiphyses of the phalanges of the hand", "fragmentation of the epiphysis of the phalanx of the hand" ], "alt_id": [ "HP:0009363" ], "def": "Fragmented appearance of the epiphyses of the phalanges of the fingers.", "synonym": [ [ "fragmentation of end part of finger bones", "fragmentation of end part of finger bone" ], [ "fragmentation of the epiphyses of the fingers", "fragmentation of the epiphysis of the finger" ] ], "xref": [ "UMLS:C4021308" ], "is_a": [ "HP:0003841", "HP:0005920" ], "is_obsolete": "", "replace_id": "" }, "HP:0010233": { "name": [ "irregular epiphyses of the phalanges of the hand", "irregular epiphysis of the phalanx of the hand" ], "alt_id": [ "HP:0009364" ], "def": "Irregular radiographic opacity of the epiphyses of the phalanges of the fingers.", "synonym": [ [ "irregular end part of finger bones", "irregular end part of finger bone" ], [ "irregular epiphyses of the fingers", "irregular epiphysis of the finger" ] ], "xref": [ "UMLS:C4021307" ], "is_a": [ "HP:0003842", "HP:0005920" ], "is_obsolete": "", "replace_id": "" }, "HP:0010234": { "name": [ "ivory epiphyses of the phalanges of the hand", "ivory epiphysis of the phalanx of the hand" ], "alt_id": [ "HP:0001210", "HP:0009365" ], "def": "Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "increased bone density of end part of the hand bones", "increase bone density of end part of the hand bone" ], [ "ivory epiphyses of the fingers", "ivory epiphysis of the finger" ], [ "sclerotic ivory phalangeal epiphyses", "sclerotic ivory phalangeal epiphysis" ] ], "xref": [ "UMLS:C1857651" ], "is_a": [ "HP:0005920", "HP:0010583", "HP:0100899" ], "is_obsolete": "", "replace_id": "" }, "HP:0010235": { "name": [ "pseudoepiphyses of the phalanges of the hand", "pseudoepiphyses of the phalanx of the hand" ], "alt_id": [ "HP:0009366" ], "def": "A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [ [ "pseudoepiphysis of the fingers", "pseudoepiphysis of the finger" ] ], "xref": [ "UMLS:C4021306" ], "is_a": [ "HP:0004288", "HP:0005920" ], "is_obsolete": "", "replace_id": "" }, "HP:0010236": { "name": [ "small epiphyses of the phalanges of the hand", "small epiphysis of the phalanx of the hand" ], "alt_id": [ "HP:0009367" ], "def": "Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.", "synonym": [ [ "small end part of finger bones", "small end part of finger bone" ], [ "small epiphyses of the fingers", "small epiphysis of the finger" ] ], "xref": [ "UMLS:C4021305" ], "is_a": [ "HP:0005920", "HP:0010585" ], "is_obsolete": "", "replace_id": "" }, "HP:0010237": { "name": [ "epiphyseal stippling of finger phalanges", "epiphyseal stippling of finger phalanx" ], "alt_id": [ "HP:0009368" ], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers.", "synonym": [ [ "speckled calcifications in end part of finger bones", "speckled calcification in end part of finger bone" ], [ "stippling of the epiphyses of the fingers", "stippling of the epiphysis of the finger" ], [ "stippling of the epiphyses of the phalanges of the hand", "stippling of the epiphysis of the phalanx of the hand" ] ], "xref": [ "UMLS:C4021304" ], "is_a": [ "HP:0005920", "HP:0010655", "HP:0010660" ], "is_obsolete": "", "replace_id": "" }, "HP:0010238": { "name": [ "triangular epiphyses of the phalanges of the hand", "triangular epiphysis of the phalanx of the hand" ], "alt_id": [ "HP:0009369" ], "def": "A triangular appearance of the epiphyses of the phalanges of the fingers of the hand.", "synonym": [ [ "delta - shaped epiphyses of the fingers", "delta - shaped epiphysis of the finger" ], [ "triangular end part of finger bones", "triangular end part of finger bone" ], [ "triangular epiphyses of the fingers", "triangular epiphysis of the finger" ] ], "xref": [ "UMLS:C4021303" ], "is_a": [ "HP:0005920", "HP:0010587" ], "is_obsolete": "", "replace_id": "" }, "HP:0010239": { "name": [ "aplasia of the middle phalanx of the hand", "aplasia of the middle phalanx of the hand" ], "alt_id": [ "HP:0005778" ], "def": "Absence of one or more middle phalanx of a finger.", "synonym": [ [ "absent middle bones of hand", "absent middle bone of hand" ], [ "absent middle phalanges", "absent middle phalanx" ], [ "missing middle phalanges", "miss middle phalanx" ] ], "xref": [ "UMLS:C1862096" ], "is_a": [ "HP:0009380", "HP:0009802", "HP:0009843" ], "is_obsolete": "", "replace_id": "" }, "HP:0010241": { "name": [ "short proximal phalanx of finger", "short proximal phalanx of finger" ], "alt_id": [ "HP:0005670", "HP:0006138" ], "def": "Congenital hypoplasia of one or more proximal phalanx of finger.", "synonym": [ [ "hypoplasia of the proximal phalanges of the hand", "hypoplasia of the proximal phalanx of the hand" ], [ "short innermost finger bones", "short innermost finger bone" ], [ "short proximal phalanges", "short proximal phalanx" ], [ "short proximal phalanx of finger", "short proximal phalanx of finger" ], [ "shortening in proximal phalanges", "shorten in proximal phalanx" ] ], "xref": [ "UMLS:C1860606" ], "is_a": [ "HP:0009381", "HP:0009803", "HP:0009851" ], "is_obsolete": "", "replace_id": "" }, "HP:0010242": { "name": [ "aplasia of the proximal phalanges of the hand", "aplasia of the proximal phalanx of the hand" ], "alt_id": [ "HP:0006102" ], "def": "", "synonym": [ [ "absent innermost bones", "absent innermost bone" ], [ "absent proximal phalanges", "absent proximal phalanx" ] ], "xref": [ "UMLS:C4021302" ], "is_a": [ "HP:0009380", "HP:0009802", "HP:0009851" ], "is_obsolete": "", "replace_id": "" }, "HP:0010243": { "name": [ "abnormality of the epiphyses of the distal phalanx of finger", "abnormality of the epiphysis of the distal phalanx of finger" ], "alt_id": [], "def": "Any anomaly of distal epiphysis of phalanx of finger.", "synonym": [ [ "abnormality of the end part of the outermost bone of finger", "abnormality of the end part of the outermost bone of finger" ] ], "xref": [ "UMLS:C4023956" ], "is_a": [ "HP:0005920", "HP:0009832" ], "is_obsolete": "", "replace_id": "" }, "HP:0010244": { "name": [ "abnormality of the epiphyses of the middle phalanges of the hand", "abnormality of the epiphysis of the middle phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the end part of the middle hand bones", "abnormality of the end part of the middle hand bone" ] ], "xref": [ "UMLS:C4023955" ], "is_a": [ "HP:0005920", "HP:0009833" ], "is_obsolete": "", "replace_id": "" }, "HP:0010245": { "name": [ "abnormality of the epiphyses of the proximal phalanges of the hand", "abnormality of the epiphysis of the proximal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the end part of the innermost hand bones", "abnormality of the end part of the innermost hand bone" ] ], "xref": [ "UMLS:C4023954" ], "is_a": [ "HP:0005920", "HP:0009834" ], "is_obsolete": "", "replace_id": "" }, "HP:0010246": { "name": [ "absent epiphyses of the distal phalanges of the hand", "absent epiphysis of the distal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "absent end part of the outermost hand bones", "absent end part of the outermost hand bone" ] ], "xref": [ "UMLS:C4023953" ], "is_a": [ "HP:0010228", "HP:0010243" ], "is_obsolete": "", "replace_id": "" }, "HP:0010247": { "name": [ "bracket epiphyses of the distal phalanges of the hand", "bracket epiphysis of the distal phalanx of the hand" ], "alt_id": [], "def": "An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of the outermost hand bones", "bracket shape end part of the outermost hand bone" ] ], "xref": [ "UMLS:C4023952" ], "is_a": [ "HP:0010229", "HP:0010243" ], "is_obsolete": "", "replace_id": "" }, "HP:0010248": { "name": [ "cone - shaped epiphyses of the distal phalanges of the hand", "cone - shaped epiphysis of the distal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "cone - shaped end part of the outermost hand bones", "cone - shaped end part of the outermost hand bone" ] ], "xref": [ "UMLS:C4023951" ], "is_a": [ "HP:0010230", "HP:0010243" ], "is_obsolete": "", "replace_id": "" }, "HP:0010249": { "name": [ "enlarged epiphyses of the distal phalanges of the hand", "enlarged epiphysis of the distal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged end part of the outermost hand bones", "enlarged end part of the outermost hand bone" ] ], "xref": [ "UMLS:C4023950" ], "is_a": [ "HP:0010231", "HP:0010243" ], "is_obsolete": "", "replace_id": "" }, "HP:0010250": { "name": [ "fragmentation of the epiphyses of the distal phalanges of the hand", "fragmentation of the epiphysis of the distal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "fragmentation of the end part of the outermost hand bones", "fragmentation of the end part of the outermost hand bone" ] ], "xref": [ "UMLS:C4023949" ], "is_a": [ "HP:0010232", "HP:0010243" ], "is_obsolete": "", "replace_id": "" }, "HP:0010251": { "name": [ "irregular epiphyses of the distal phalanges of the hand", "irregular epiphysis of the distal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the outermost hand bones", "irregular end part of the outermost hand bone" ] ], "xref": [ "UMLS:C4023948" ], "is_a": [ "HP:0010233", "HP:0010243" ], "is_obsolete": "", "replace_id": "" }, "HP:0010252": { "name": [ "ivory epiphyses of the distal phalanges of the hand", "ivory epiphysis of the distal phalanx of the hand" ], "alt_id": [ "HP:0006105" ], "def": "Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.", "synonym": [ [ "eburnated epiphyses of distal phalanges", "eburnated epiphysis of distal phalanx" ], [ "increased bone density of end part of the outermost hand bones", "increase bone density of end part of the outermost hand bone" ] ], "xref": [ "UMLS:C4021301" ], "is_a": [ "HP:0010234", "HP:0010243", "HP:0100915" ], "is_obsolete": "", "replace_id": "" }, "HP:0010253": { "name": [ "pseudoepiphyses of the distal phalanges of the hand", "pseudoepiphyses of the distal phalanx of the hand" ], "alt_id": [], "def": "A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [], "xref": [ "UMLS:C4023947" ], "is_a": [ "HP:0010235", "HP:0010243" ], "is_obsolete": "", "replace_id": "" }, "HP:0010254": { "name": [ "small epiphyses of the distal phalanges of the hand", "small epiphysis of the distal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of the outermost hand bones", "small end part of the outermost hand bone" ] ], "xref": [ "UMLS:C4023946" ], "is_a": [ "HP:0010236", "HP:0010243" ], "is_obsolete": "", "replace_id": "" }, "HP:0010255": { "name": [ "stippling of the epiphyses of the distal phalanges of the hand", "stippling of the epiphysis of the distal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "speckled calcifications in the end part of the outermost hand bones", "speckled calcification in the end part of the outermost hand bone" ] ], "xref": [ "UMLS:C4023945" ], "is_a": [ "HP:0010237", "HP:0010243" ], "is_obsolete": "", "replace_id": "" }, "HP:0010256": { "name": [ "triangular epiphyses of the distal phalanges of the hand", "triangular epiphysis of the distal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the outermost hand bones", "triangular end part of the outermost hand bone" ] ], "xref": [ "UMLS:C4023944" ], "is_a": [ "HP:0010238", "HP:0010243" ], "is_obsolete": "", "replace_id": "" }, "HP:0010257": { "name": [ "absent epiphyses of the middle phalanges of the hand", "absent epiphysis of the middle phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "absent end part of the middle hand bones", "absent end part of the middle hand bone" ] ], "xref": [ "UMLS:C4023943" ], "is_a": [ "HP:0010228", "HP:0010244" ], "is_obsolete": "", "replace_id": "" }, "HP:0010258": { "name": [ "bracket epiphyses of the middle phalanges of the hand", "bracket epiphysis of the middle phalanx of the hand" ], "alt_id": [], "def": "An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of the middle hand bones", "bracket shape end part of the middle hand bone" ] ], "xref": [ "UMLS:C4023942" ], "is_a": [ "HP:0010229", "HP:0010244" ], "is_obsolete": "", "replace_id": "" }, "HP:0010259": { "name": [ "cone - shaped epiphyses of the middle phalanges of the hand", "cone - shaped epiphysis of the middle phalanx of the hand" ], "alt_id": [ "HP:0006033", "HP:0006058" ], "def": "", "synonym": [ [ "cone - shaped end part of the middle hand bones", "cone - shaped end part of the middle hand bone" ], [ "cone - shaped epiphyses of middle phalanges", "cone - shaped epiphysis of middle phalanx" ] ], "xref": [ "UMLS:C1860828" ], "is_a": [ "HP:0010230", "HP:0010244" ], "is_obsolete": "", "replace_id": "" }, "HP:0010260": { "name": [ "enlarged epiphyses of the middle phalanges of the hand", "enlarged epiphysis of the middle phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged end part of the middle hand bones", "enlarged end part of the middle hand bone" ] ], "xref": [ "UMLS:C4023941" ], "is_a": [ "HP:0010231", "HP:0010244" ], "is_obsolete": "", "replace_id": "" }, "HP:0010261": { "name": [ "fragmentation of the epiphyses of the middle phalanges of the hand", "fragmentation of the epiphysis of the middle phalanx of the hand" ], "alt_id": [], "def": "Fragmented appearance of the epiphyses of the middle phalanges of the hand.", "synonym": [ [ "fragmentation of the end part of the middle hand bones", "fragmentation of the end part of the middle hand bone" ] ], "xref": [ "UMLS:C4023940" ], "is_a": [ "HP:0010232", "HP:0010244" ], "is_obsolete": "", "replace_id": "" }, "HP:0010262": { "name": [ "irregular epiphyses of the middle phalanges of the hand", "irregular epiphysis of the middle phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of middle hand bones", "irregular end part of middle hand bone" ] ], "xref": [ "UMLS:C4023939" ], "is_a": [ "HP:0010233", "HP:0010244" ], "is_obsolete": "", "replace_id": "" }, "HP:0010263": { "name": [ "ivory epiphyses of the middle phalanges of the hand", "ivory epiphysis of the middle phalanx of the hand" ], "alt_id": [], "def": "Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.", "synonym": [ [ "increased bone density of end part of the middle hand bones", "increase bone density of end part of the middle hand bone" ] ], "xref": [ "UMLS:C4023938" ], "is_a": [ "HP:0010234", "HP:0010244", "HP:0100916" ], "is_obsolete": "", "replace_id": "" }, "HP:0010264": { "name": [ "pseudoepiphyses of the middle phalanges of the hand", "pseudoepiphyses of the middle phalanx of the hand" ], "alt_id": [], "def": "A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [], "xref": [ "UMLS:C4023937" ], "is_a": [ "HP:0010235", "HP:0010244" ], "is_obsolete": "", "replace_id": "" }, "HP:0010265": { "name": [ "small epiphyses of the middle phalanges of the hand", "small epiphysis of the middle phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of the middle hand bones", "small end part of the middle hand bone" ] ], "xref": [ "UMLS:C4023936" ], "is_a": [ "HP:0010236", "HP:0010244" ], "is_obsolete": "", "replace_id": "" }, "HP:0010266": { "name": [ "stippling of the epiphyses of the middle phalanges of the hand", "stippling of the epiphysis of the middle phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "speckled calcifications in the end part of the middle hand bones", "speckled calcification in the end part of the middle hand bone" ] ], "xref": [ "UMLS:C4023935" ], "is_a": [ "HP:0010237", "HP:0010244" ], "is_obsolete": "", "replace_id": "" }, "HP:0010267": { "name": [ "triangular epiphyses of the middle phalanges of the hand", "triangular epiphysis of the middle phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the middle hand bones", "triangular end part of the middle hand bone" ] ], "xref": [ "UMLS:C4023934" ], "is_a": [ "HP:0010238", "HP:0010244" ], "is_obsolete": "", "replace_id": "" }, "HP:0010268": { "name": [ "absent epiphyses of the proximal phalanges of the hand", "absent epiphysis of the proximal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "absent end part of the innermost hand bones", "absent end part of the innermost hand bone" ] ], "xref": [ "UMLS:C4023933" ], "is_a": [ "HP:0010228", "HP:0010245" ], "is_obsolete": "", "replace_id": "" }, "HP:0010269": { "name": [ "bracket epiphyses of the proximal phalanges of the hand", "bracket epiphysis of the proximal phalanx of the hand" ], "alt_id": [], "def": "An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.", "synonym": [ [ "bracket shaped end part of the innermost hand bones", "bracket shape end part of the innermost hand bone" ] ], "xref": [ "UMLS:C4023932" ], "is_a": [ "HP:0010229", "HP:0010245" ], "is_obsolete": "", "replace_id": "" }, "HP:0010270": { "name": [ "cone - shaped epiphyses of the proximal phalanges of the hand", "cone - shaped epiphysis of the proximal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "cone - shaped end part of the innermost hand bones", "cone - shaped end part of the innermost hand bone" ] ], "xref": [ "UMLS:C4023931" ], "is_a": [ "HP:0010230", "HP:0010245" ], "is_obsolete": "", "replace_id": "" }, "HP:0010271": { "name": [ "enlarged epiphyses of the proximal phalanges of the hand", "enlarged epiphysis of the proximal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged end part of the innermost hand bones", "enlarged end part of the innermost hand bone" ] ], "xref": [ "UMLS:C4023930" ], "is_a": [ "HP:0010231", "HP:0010245" ], "is_obsolete": "", "replace_id": "" }, "HP:0010272": { "name": [ "fragmentation of the epiphyses of the proximal phalanges of the hand", "fragmentation of the epiphysis of the proximal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "fragmentation of the end part of the innermost hand bones", "fragmentation of the end part of the innermost hand bone" ] ], "xref": [ "UMLS:C4023929" ], "is_a": [ "HP:0010232", "HP:0010245" ], "is_obsolete": "", "replace_id": "" }, "HP:0010273": { "name": [ "irregular epiphyses of the proximal phalanges of the hand", "irregular epiphysis of the proximal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the innermost hand bones", "irregular end part of the innermost hand bone" ] ], "xref": [ "UMLS:C4023928" ], "is_a": [ "HP:0010233", "HP:0010245" ], "is_obsolete": "", "replace_id": "" }, "HP:0010274": { "name": [ "ivory epiphyses of the proximal phalanges of the hand", "ivory epiphysis of the proximal phalanx of the hand" ], "alt_id": [], "def": "Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.", "synonym": [ [ "increased bone density of end part of the innermost hand bones", "increase bone density of end part of the innermost hand bone" ] ], "xref": [ "UMLS:C4023927" ], "is_a": [ "HP:0010234", "HP:0010245", "HP:0100917" ], "is_obsolete": "", "replace_id": "" }, "HP:0010275": { "name": [ "pseudoepiphyses of the proximal phalanges of the hand", "pseudoepiphyses of the proximal phalanx of the hand" ], "alt_id": [], "def": "A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.", "synonym": [], "xref": [ "UMLS:C4023926" ], "is_a": [ "HP:0010235", "HP:0010245" ], "is_obsolete": "", "replace_id": "" }, "HP:0010276": { "name": [ "small epiphyses of the proximal phalanges of the hand", "small epiphysis of the proximal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of the innermost hand bones", "small end part of the innermost hand bone" ] ], "xref": [ "UMLS:C4023925" ], "is_a": [ "HP:0010236", "HP:0010245" ], "is_obsolete": "", "replace_id": "" }, "HP:0010277": { "name": [ "stippling of the epiphyses of the proximal phalanges of the hand", "stippling of the epiphysis of the proximal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "speckled calcifications in the end part of the innermost hand bones", "speckled calcification in the end part of the innermost hand bone" ] ], "xref": [ "UMLS:C4023924" ], "is_a": [ "HP:0010237", "HP:0010245" ], "is_obsolete": "", "replace_id": "" }, "HP:0010278": { "name": [ "triangular epiphyses of the proximal phalanges of the hand", "triangular epiphysis of the proximal phalanx of the hand" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the innermost hand bones", "triangular end part of the innermost hand bone" ] ], "xref": [ "UMLS:C4023923" ], "is_a": [ "HP:0010238", "HP:0010245" ], "is_obsolete": "", "replace_id": "" }, "HP:0010280": { "name": [ "stomatitis", "stomatitis" ], "alt_id": [], "def": "Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.", "synonym": [ [ "gingivostomatitis", "gingivostomatitis" ], [ "inflammation of the mouth", "inflammation of the mouth" ] ], "xref": [ "MSH:D013280", "SNOMEDCT_US:20607006", "SNOMEDCT_US:61170000", "UMLS:C0038362", "UMLS:C0149704" ], "is_a": [ "HP:0011830", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0010281": { "name": [ "cleft lower lip", "cleft lower lip" ], "alt_id": [], "def": "A gap in the lower lip.", "synonym": [ [ "cleft lower lip", "cleft lower lip" ], [ "cleft of the lower lip", "cleft of the low lip" ], [ "lower labial cleft", "low labial cleft" ] ], "xref": [ "UMLS:C1856026" ], "is_a": [ "HP:0000178", "HP:0410030" ], "is_obsolete": "", "replace_id": "" }, "HP:0010282": { "name": [ "thin lower lip vermilion", "thin low lip vermilion" ], "alt_id": [], "def": "Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).", "synonym": [ [ "decreased height of lower lip vermilion", "decreased height of low lip vermilion" ], [ "decreased volume of lower lip", "decreased volume of low lip" ], [ "decreased volume of lower lip vermilion", "decreased volume of low lip vermilion" ], [ "thin lower lip", "thin low lip" ], [ "thin red part of the lower lip", "thin red part of the low lip" ], [ "thin vermilion border of lower lip", "thin vermilion border of low lip" ] ], "xref": [ "UMLS:C2053440" ], "is_a": [ "HP:0000178", "HP:0000233" ], "is_obsolete": "", "replace_id": "" }, "HP:0010284": { "name": [ "intra - oral hyperpigmentation", "intra - oral hyperpigmentation" ], "alt_id": [], "def": "Increased pigmentation, either focal or generalized, of the mucosa of the mouth.", "synonym": [ [ "dark color of gums", "dark color of gum" ], [ "dark colour of gums", "dark colour of gum" ], [ "gingival hyperpigmentation", "gingival hyperpigmentation" ], [ "gingival melanin pigmentation", "gingival melanin pigmentation" ], [ "hyperpigmentation of oral mucosa", "hyperpigmentation of oral mucosa" ], [ "oral mucosa melanin pigmentation", "oral mucosa melanin pigmentation" ], [ "oral racial pigmentation", "oral racial pigmentation" ], [ "pigmented gums", "pigment gum" ] ], "xref": [ "SNOMEDCT_US:235038002", "UMLS:C0399483", "UMLS:C0877541", "UMLS:C4280387", "UMLS:C4280388", "UMLS:C4280389" ], "is_a": [ "HP:0100669" ], "is_obsolete": "", "replace_id": "" }, "HP:0010285": { "name": [ "oral synechia", "oral synechia" ], "alt_id": [], "def": "Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.", "synonym": [ [ "oral fibrous bands", "oral fibrous band" ], [ "synechiae of the mouth", "synechiae of the mouth" ] ], "xref": [ "UMLS:C4023921" ], "is_a": [ "HP:0011830" ], "is_obsolete": "", "replace_id": "" }, "HP:0010286": { "name": [ "abnormal salivary gland morphology", "abnormal salivary gland morphology" ], "alt_id": [], "def": "Any abnormality of the salivary glands, the exocrine glands that produce saliva.", "synonym": [ [ "abnormality of the salivary glands", "abnormality of the salivary gland" ], [ "salivary gland disease", "salivary gland disease" ] ], "xref": [ "MSH:D012466", "SNOMEDCT_US:10890000", "UMLS:C0036093", "UMLS:C0149772" ], "is_a": [ "HP:0000163" ], "is_obsolete": "", "replace_id": "" }, "HP:0010287": { "name": [ "abnormality of the submandibular glands", "abnormality of the submandibular gland" ], "alt_id": [], "def": "Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles.", "synonym": [ [ "abnormality of the submaxillary glands", "abnormality of the submaxillary gland" ] ], "xref": [ "UMLS:C4023920" ], "is_a": [ "HP:0010286" ], "is_obsolete": "", "replace_id": "" }, "HP:0010288": { "name": [ "abnormality of the sublingual glands", "abnormality of the sublingual gland" ], "alt_id": [], "def": "Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands.", "synonym": [], "xref": [ "UMLS:C4023919" ], "is_a": [ "HP:0010286" ], "is_obsolete": "", "replace_id": "" }, "HP:0010289": { "name": [ "cleft of alveolar ridge of maxilla", "cleft of alveolar ridge of maxilla" ], "alt_id": [], "def": "A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth.", "synonym": [ [ "alveolar ridge cleft", "alveolar ridge cleft" ], [ "cleft of alveolar process", "cleft of alveolar process" ], [ "cleft of gum ridge", "cleft of gum ridge" ], [ "notch of alveolar process", "notch of alveolar process" ], [ "notch of alveolar ridge", "notch of alveolar ridge" ], [ "notch of gum ridge", "notch of gum ridge" ] ], "xref": [ "SNOMEDCT_US:445306000", "UMLS:C1398533", "UMLS:C2919907", "UMLS:C4280386" ], "is_a": [ "HP:0410005" ], "is_obsolete": "", "replace_id": "" }, "HP:0010290": { "name": [ "short hard palate", "short hard palate" ], "alt_id": [], "def": "Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).", "synonym": [ [ "decreased length of hard palate", "decreased length of hard palate" ], [ "hypoplastic palate", "hypoplastic palate" ], [ "short palate", "short palate" ] ], "xref": [ "UMLS:C1398301", "UMLS:C4020772", "UMLS:C4023918" ], "is_a": [ "HP:0100737" ], "is_obsolete": "", "replace_id": "" }, "HP:0010291": { "name": [ "prominent palatine ridges", "prominent palatine ridge" ], "alt_id": [], "def": "Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.", "synonym": [ [ "large lateral palatal folds", "large lateral palatal fold" ], [ "large lateral palatal ridges", "large lateral palatal ridge" ], [ "prominent lateral palatal folds", "prominent lateral palatal fold" ], [ "prominent lateral palatal ridges", "prominent lateral palatal ridge" ], [ "prominent palatine folds", "prominent palatine fold" ] ], "xref": [ "UMLS:C4021300" ], "is_a": [ "HP:0000174" ], "is_obsolete": "", "replace_id": "" }, "HP:0010292": { "name": [ "absent uvula", "absent uvula" ], "alt_id": [], "def": "Lack of the uvula.", "synonym": [ [ "absent palatine uvula", "absent palatine uvula" ], [ "agenesis of uvula", "agenesis of uvula" ], [ "congenital absence of uvula", "congenital absence of uvula" ], [ "missing uvula", "miss uvula" ], [ "uvula aplasia", "uvula aplasia" ] ], "xref": [ "SNOMEDCT_US:25148007", "UMLS:C0266121" ], "is_a": [ "HP:0010293" ], "is_obsolete": "", "replace_id": "" }, "HP:0010293": { "name": [ "aplasia / hypoplasia of the uvula", "aplasia / hypoplasia of the uvula" ], "alt_id": [], "def": "Underdevelopment or absence of the uvula.", "synonym": [ [ "aplasia / hypoplasia of palatine uvula", "aplasia / hypoplasia of palatine uvula" ] ], "xref": [ "UMLS:C4023917" ], "is_a": [ "HP:0000172" ], "is_obsolete": "", "replace_id": "" }, "HP:0010294": { "name": [ "palate fistula", "palate fistula" ], "alt_id": [], "def": "A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.", "synonym": [ [ "hole in roof of mouth", "hole in roof of mouth" ], [ "palatal hole", "palatal hole" ], [ "palatal perforation", "palatal perforation" ] ], "xref": [ "UMLS:C2032780", "UMLS:C4280385" ], "is_a": [ "HP:0000174" ], "is_obsolete": "", "replace_id": "" }, "HP:0010295": { "name": [ "aplasia / hypoplasia of the tongue", "aplasia / hypoplasia of the tongue" ], "alt_id": [], "def": "Absence or underdevelopment of the tongue.", "synonym": [ [ "lingual aplasia / hypoplasia", "lingual aplasia / hypoplasia" ] ], "xref": [ "UMLS:C4023916", "UMLS:C4280384" ], "is_a": [ "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0010296": { "name": [ "ankyloglossia", "ankyloglossia" ], "alt_id": [], "def": "Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.", "synonym": [ [ "tongue tie", "tongue tie" ], [ "tongue tied", "tongue tie" ] ], "xref": [ "MSH:D000072676", "SNOMEDCT_US:67787004", "UMLS:C0152415" ], "is_a": [ "HP:0000190", "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0010297": { "name": [ "bifid tongue", "bifid tongue" ], "alt_id": [], "def": "Tongue with a median apical indentation or fork.", "synonym": [ [ "bifurcated tongue", "bifurcate tongue" ], [ "bilobed tongue", "bilobed tongue" ], [ "cleft tongue", "cleft tongue" ], [ "forked tongue", "fork tongue" ], [ "snake tongue", "snake tongue" ], [ "split tongue", "split tongue" ] ], "xref": [ "SNOMEDCT_US:84557007", "UMLS:C0266111", "UMLS:C4255098" ], "is_a": [ "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0010298": { "name": [ "smooth tongue", "smooth tongue" ], "alt_id": [], "def": "Glossy appearance of the entire tongue surface.", "synonym": [ [ "atrophy of dorsum of tongue", "atrophy of dorsum of tongue" ], [ "atrophy of lingual surface", "atrophy of lingual surface" ], [ "atrophy of tongue surface", "atrophy of tongue surface" ], [ "smooth dorsum of tongue", "smooth dorsum of tongue" ], [ "smooth lingual surface", "smooth lingual surface" ], [ "smooth surface of tongue", "smooth surface of tongue" ], [ "smooth tongue", "smooth tongue" ] ], "xref": [ "SNOMEDCT_US:9491003", "UMLS:C0155964", "UMLS:C4280381", "UMLS:C4280382", "UMLS:C4280383" ], "is_a": [ "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0010299": { "name": [ "abnormal dentin morphology", "abnormal dentin morphology" ], "alt_id": [], "def": "Any abnormality of dentin.", "synonym": [ [ "abnormal dentin", "abnormal dentin" ], [ "abnormality of dentin", "abnormality of dentin" ], [ "abnormality of dentine", "abnormality of dentine" ], [ "dentin anomaly", "dentin anomaly" ] ], "xref": [ "UMLS:C4021299" ], "is_a": [ "HP:0011061" ], "is_obsolete": "", "replace_id": "" }, "HP:0010300": { "name": [ "abnormally low - pitched voice", "abnormally low - pitch voice" ], "alt_id": [], "def": "An abnormally low-pitched voice.", "synonym": [], "xref": [ "UMLS:C4023915" ], "is_a": [ "HP:0001608" ], "is_obsolete": "", "replace_id": "" }, "HP:0010301": { "name": [ "spinal dysraphism", "spinal dysraphism" ], "alt_id": [], "def": "A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.", "synonym": [ [ "incomplete closure of the vertebral arch", "incomplete closure of the vertebral arch" ] ], "xref": [ "MSH:D009436", "SNOMEDCT_US:253098009", "UMLS:C0027794" ], "is_a": [ "HP:0002143", "HP:0045005" ], "is_obsolete": "", "replace_id": "" }, "HP:0010302": { "name": [ "spinal cord tumor", "spinal cord tumor" ], "alt_id": [ "HP:0009712" ], "def": "A neoplasm affecting the spinal cord.", "synonym": [ [ "spinal cord tumor", "spinal cord tumor" ], [ "spinal cord tumour", "spinal cord tumour" ], [ "spinal tumor", "spinal tumor" ], [ "spinal tumors", "spinal tumor" ], [ "spinal tumour", "spinal tumour" ], [ "spinal tumours", "spinal tumour" ], [ "tumor of the spinal cord", "tumor of the spinal cord" ], [ "tumour of the spinal cord", "tumour of the spinal cord" ] ], "xref": [ "MSH:D013120", "NCIT:C3262", "SNOMEDCT_US:126962006", "UMLS:C0037930" ], "is_a": [ "HP:0002143", "HP:0100006" ], "is_obsolete": "", "replace_id": "" }, "HP:0010303": { "name": [ "abnormal spinal meningeal morphology", "abnormal spinal meningeal morphology" ], "alt_id": [], "def": "Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord.", "synonym": [ [ "abnormality of the spinal meninges", "abnormality of the spinal meninges" ] ], "xref": [ "UMLS:C4023914" ], "is_a": [ "HP:0002143", "HP:0010651" ], "is_obsolete": "", "replace_id": "" }, "HP:0010304": { "name": [ "spinal meningeal diverticulum", "spinal meningeal diverticulum" ], "alt_id": [], "def": "An outpouching of the spinal meninges.", "synonym": [], "xref": [ "UMLS:C4023913" ], "is_a": [ "HP:0010303" ], "is_obsolete": "", "replace_id": "" }, "HP:0010305": { "name": [ "absence of the sacrum", "absence of the sacrum" ], "alt_id": [], "def": "Absence (aplasia) of the sacrum.", "synonym": [ [ "absent sacrum", "absent sacrum" ], [ "sacral agenesis", "sacral agenesis" ], [ "sacrococcygeal agenesis", "sacrococcygeal agenesis" ] ], "xref": [ "MSH:C537221", "SNOMEDCT_US:205425003", "UMLS:C0344490" ], "is_a": [ "HP:0008517" ], "is_obsolete": "", "replace_id": "" }, "HP:0010306": { "name": [ "short thorax", "short thorax" ], "alt_id": [], "def": "Reduced inferior to superior extent of the thorax.", "synonym": [ [ "shorter than typical length between neck and abdomen", "short than typical length between neck and abdomen" ] ], "xref": [ "SNOMEDCT_US:249670005", "UMLS:C0426789" ], "is_a": [ "HP:0000765" ], "is_obsolete": "", "replace_id": "" }, "HP:0010307": { "name": [ "stridor", "stridor" ], "alt_id": [], "def": "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.", "synonym": [ [ "noisy breathing", "noisy breathe" ] ], "xref": [ "MSH:D012135", "SNOMEDCT_US:248573009", "SNOMEDCT_US:70407001", "UMLS:C0038450", "UMLS:C0237304" ], "is_a": [ "HP:0030829" ], "is_obsolete": "", "replace_id": "" }, "HP:0010308": { "name": [ "asternia", "asternia" ], "alt_id": [], "def": "The congenital absence of the sternum.", "synonym": [ [ "aplasia of the sternum", "aplasia of the sternum" ], [ "breast bone aplasia", "breast bone aplasia" ] ], "xref": [ "UMLS:C4023912" ], "is_a": [ "HP:0006714" ], "is_obsolete": "", "replace_id": "" }, "HP:0010309": { "name": [ "bifid sternum", "bifid sternum" ], "alt_id": [], "def": "The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum.", "synonym": [ [ "sternal cleft", "sternal cleft" ] ], "xref": [ "SNOMEDCT_US:54008006", "UMLS:C0265696" ], "is_a": [ "HP:0000766" ], "is_obsolete": "", "replace_id": "" }, "HP:0010310": { "name": [ "chylothorax", "chylothorax" ], "alt_id": [], "def": "Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.", "synonym": [], "xref": [ "MSH:D002916", "SNOMEDCT_US:83035003", "UMLS:C0008733" ], "is_a": [ "HP:0002202" ], "is_obsolete": "", "replace_id": "" }, "HP:0010311": { "name": [ "aplasia / hypoplasia of the breasts", "aplasia / hypoplasia of the breast" ], "alt_id": [], "def": "Absence or underdevelopment of the breasts.", "synonym": [ [ "absent / small breasts", "absent / small breast" ], [ "absent / underdeveloped breasts", "absent / underdevelop breast" ] ], "xref": [ "UMLS:C4023911" ], "is_a": [ "HP:0031093" ], "is_obsolete": "", "replace_id": "" }, "HP:0010312": { "name": [ "asymmetry of the breasts", "asymmetry of the breast" ], "alt_id": [], "def": "The presence of asymmetrical breasts.", "synonym": [], "xref": [ "MSH:C565299", "UMLS:C1854013" ], "is_a": [ "HP:0031093" ], "is_obsolete": "", "replace_id": "" }, "HP:0010313": { "name": [ "breast hypertrophy", "breast hypertrophy" ], "alt_id": [], "def": "The presence of hypertrophy of the breast.", "synonym": [ [ "breast enlargement", "breast enlargement" ], [ "breasts enlarged", "breast enlarge" ], [ "gigantomastia", "gigantomastia" ], [ "hypertrophy of the breasts", "hypertrophy of the breast" ], [ "large breast", "large breast" ], [ "macromastia", "macromastia" ] ], "xref": [ "MSH:C536821", "SNOMEDCT_US:372281005", "SNOMEDCT_US:372283008", "SNOMEDCT_US:372285001", "UMLS:C0020565", "UMLS:C0392533", "UMLS:C2225524" ], "is_a": [ "HP:0031093" ], "is_obsolete": "", "replace_id": "" }, "HP:0010314": { "name": [ "premature thelarche", "premature thelarche" ], "alt_id": [], "def": "Premature development of the breasts.", "synonym": [ [ "premature breast development", "premature breast development" ] ], "xref": [ "SNOMEDCT_US:102889008", "UMLS:C0425772" ], "is_a": [ "HP:0000826" ], "is_obsolete": "", "replace_id": "" }, "HP:0010315": { "name": [ "aplasia / hypoplasia of the diaphragm", "aplasia / hypoplasia of the diaphragm" ], "alt_id": [], "def": "Absence or underdevelopment of the diaphragm.", "synonym": [ [ "absent / small diaprhagm", "absent / small diaprhagm" ], [ "absent / underdeveloped diaprhagm", "absent / underdevelop diaprhagm" ] ], "xref": [ "UMLS:C4023910" ], "is_a": [ "HP:0000775" ], "is_obsolete": "", "replace_id": "" }, "HP:0010316": { "name": [ "ebstein anomaly of the tricuspid valve", "ebstein anomaly of the tricuspid valve" ], "alt_id": [ "HP:0006674" ], "def": "Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet.", "synonym": [ [ "ebstein 's anomaly", "ebstein 's anomaly" ], [ "ebstein 's anomaly of the tricuspid valve", "ebstein 's anomaly of the tricuspid valve" ], [ "ebstein 's malformation", "ebstein 's malformation" ] ], "xref": [ "EPCC:06.01.34", "ICD-10:Q22.5", "MSH:D004437", "SNOMEDCT_US:204357006", "UMLS:C0013481" ], "is_a": [ "HP:0001702" ], "is_obsolete": "", "replace_id": "" }, "HP:0010317": { "name": [ "scapular aplasia", "scapular aplasia" ], "alt_id": [], "def": "Absence of the scapulae.", "synonym": [ [ "absent scapula", "absent scapula" ], [ "absent shoulder blade", "absent shoulder blade" ] ], "xref": [ "UMLS:C4021298" ], "is_a": [ "HP:0006713" ], "is_obsolete": "", "replace_id": "" }, "HP:0010318": { "name": [ "aplasia / hypoplasia of the abdominal wall musculature", "aplasia / hypoplasia of the abdominal wall musculature" ], "alt_id": [], "def": "Absence or underdevelopment of the abdominal musculature.", "synonym": [ [ "absent / small abdominal wall muscles", "absent / small abdominal wall muscle" ], [ "absent / underdeveloped abdominal wall muscles", "absent / underdevelop abdominal wall muscle" ] ], "xref": [ "UMLS:C4023909" ], "is_a": [ "HP:0010991" ], "is_obsolete": "", "replace_id": "" }, "HP:0010319": { "name": [ "abnormality of the 2nd toe", "abnormality of the 2nd toe" ], "alt_id": [], "def": "An anomaly of the second toe.", "synonym": [], "xref": [ "UMLS:C4023908" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0010320": { "name": [ "abnormality of the 3rd toe", "abnormality of the 3rd toe" ], "alt_id": [], "def": "An anomaly of the third toe.", "synonym": [ [ "abnormality of the 3rd toe", "abnormality of the 3rd toe" ] ], "xref": [ "UMLS:C4023907" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0010321": { "name": [ "abnormality of the 4th toe", "abnormality of the 4th toe" ], "alt_id": [], "def": "An anomaly of the fourth toe.", "synonym": [ [ "abnormality of the 4th toe", "abnormality of the 4th toe" ] ], "xref": [ "UMLS:C4023906" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0010322": { "name": [ "abnormality of the 5th toe", "abnormality of the 5th toe" ], "alt_id": [], "def": "An anomaly of the little toe.", "synonym": [ [ "abnormality of the little toe", "abnormality of the little toe" ], [ "abnormality of the pinkie toe", "abnormality of the pinkie toe" ], [ "abnormality of the pinky toe", "abnormality of the pinky toe" ] ], "xref": [ "UMLS:C4023905" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0010323": { "name": [ "abnormality of the epiphyses of the 2nd toe", "abnormality of the epiphysis of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the end part of the 2nd toe bone", "abnormality of the end part of the 2nd toe bone" ] ], "xref": [ "UMLS:C4023904" ], "is_a": [ "HP:0010160", "HP:0010319" ], "is_obsolete": "", "replace_id": "" }, "HP:0010324": { "name": [ "abnormal morphology of phalanx of the 2nd toe", "abnormal morphology of phalanx of the 2nd toe" ], "alt_id": [], "def": "An anomaly of a phalanx of second toe.", "synonym": [ [ "abnormality of the 2nd toe bone", "abnormality of the 2nd toe bone" ] ], "xref": [ "UMLS:C4023903" ], "is_a": [ "HP:0010161", "HP:0010319" ], "is_obsolete": "", "replace_id": "" }, "HP:0010325": { "name": [ "aplasia / hypoplasia of the 2nd toe", "aplasia / hypoplasia of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small 2nd toe", "absent / small 2nd toe" ], [ "absent / underdeveloped 2nd toe", "absent / underdevelop 2nd toe" ] ], "xref": [ "UMLS:C4023902" ], "is_a": [ "HP:0010319", "HP:0010760" ], "is_obsolete": "", "replace_id": "" }, "HP:0010326": { "name": [ "deviation of the 2nd toe", "deviation of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "displacement of the 2nd toe", "displacement of the 2nd toe" ] ], "xref": [ "UMLS:C4021297" ], "is_a": [ "HP:0010319", "HP:0100498" ], "is_obsolete": "", "replace_id": "" }, "HP:0010327": { "name": [ "flexion contracture of the 2nd toe", "flexion contracture of the 2nd toe" ], "alt_id": [], "def": "One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively.", "synonym": [ [ "joint contractures of the 2nd toe", "joint contracture of the 2nd toe" ] ], "xref": [ "UMLS:C4021296" ], "is_a": [ "HP:0005830", "HP:0010319" ], "is_obsolete": "", "replace_id": "" }, "HP:0010328": { "name": [ "polydactyly affecting the 2nd toe", "polydactyly affect the 2nd toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023901" ], "is_a": [ "HP:0010112", "HP:0010319" ], "is_obsolete": "", "replace_id": "" }, "HP:0010329": { "name": [ "abnormality of the epiphyses of the 3rd toe", "abnormality of the epiphysis of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the end part of the 3rd toe bone", "abnormality of the end part of the 3rd toe bone" ] ], "xref": [ "UMLS:C4023900" ], "is_a": [ "HP:0010160", "HP:0010320" ], "is_obsolete": "", "replace_id": "" }, "HP:0010330": { "name": [ "abnormality of the phalanges of the 3rd toe", "abnormality of the phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the bones of the 3rd toe", "abnormality of the bone of the 3rd toe" ] ], "xref": [ "UMLS:C4023899" ], "is_a": [ "HP:0010161", "HP:0010320" ], "is_obsolete": "", "replace_id": "" }, "HP:0010331": { "name": [ "aplasia / hypoplasia of the 3rd toe", "aplasia / hypoplasia of the 3rd toe" ], "alt_id": [ "HP:0008100" ], "def": "", "synonym": [ [ "absent / hypoplastic third toe", "absent / hypoplastic third toe" ], [ "absent / small 3rd toe", "absent / small 3rd toe" ], [ "absent / underdeveloped 3rd toe", "absent / underdevelop 3rd toe" ] ], "xref": [ "UMLS:C1862698" ], "is_a": [ "HP:0010320", "HP:0010760" ], "is_obsolete": "", "replace_id": "" }, "HP:0010332": { "name": [ "deviation of the 3rd toe", "deviation of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "displacement of the 3rd toe", "displacement of the 3rd toe" ] ], "xref": [ "UMLS:C4021295" ], "is_a": [ "HP:0010320", "HP:0100498" ], "is_obsolete": "", "replace_id": "" }, "HP:0010333": { "name": [ "flexion contracture of 3rd toe", "flexion contracture of 3rd toe" ], "alt_id": [], "def": "One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively.", "synonym": [ [ "joint contractures of the 3rd toe", "joint contracture of the 3rd toe" ] ], "xref": [ "UMLS:C4021294" ], "is_a": [ "HP:0005830", "HP:0010320" ], "is_obsolete": "", "replace_id": "" }, "HP:0010334": { "name": [ "polydactyly affecting the 3rd toe", "polydactyly affect the 3rd toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023898" ], "is_a": [ "HP:0010112", "HP:0010320" ], "is_obsolete": "", "replace_id": "" }, "HP:0010335": { "name": [ "abnormality of the epiphyses of the 4th toe", "abnormality of the epiphysis of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the end part of the 4th toe bone", "abnormality of the end part of the 4th toe bone" ] ], "xref": [ "UMLS:C4023897" ], "is_a": [ "HP:0010160", "HP:0010321" ], "is_obsolete": "", "replace_id": "" }, "HP:0010336": { "name": [ "abnormality of the phalanges of the 4th toe", "abnormality of the phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023896" ], "is_a": [ "HP:0010161", "HP:0010321" ], "is_obsolete": "", "replace_id": "" }, "HP:0010337": { "name": [ "aplasia / hypoplasia of the 4th toe", "aplasia / hypoplasia of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small 4th toe", "absent / small 4th toe" ], [ "absent / underdeveloped 4th toe", "absent / underdevelop 4th toe" ] ], "xref": [ "UMLS:C4023895" ], "is_a": [ "HP:0010321", "HP:0010760" ], "is_obsolete": "", "replace_id": "" }, "HP:0010338": { "name": [ "deviation of the 4th toe", "deviation of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "displacement of the 4th toe", "displacement of the 4th toe" ] ], "xref": [ "UMLS:C4021293" ], "is_a": [ "HP:0010321", "HP:0100498" ], "is_obsolete": "", "replace_id": "" }, "HP:0010339": { "name": [ "flexion contracture of the 4th toe", "flexion contracture of the 4th toe" ], "alt_id": [], "def": "One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively.", "synonym": [ [ "joint contractures of the 4th toe", "joint contracture of the 4th toe" ] ], "xref": [ "UMLS:C4021292" ], "is_a": [ "HP:0005830", "HP:0010321" ], "is_obsolete": "", "replace_id": "" }, "HP:0010340": { "name": [ "polydactyly affecting the 4th toe", "polydactyly affect the 4th toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023894" ], "is_a": [ "HP:0010112", "HP:0010321" ], "is_obsolete": "", "replace_id": "" }, "HP:0010341": { "name": [ "abnormality of the epiphyses of the 5th toe", "abnormality of the epiphysis of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the end part of the little toe bone", "abnormality of the end part of the little toe bone" ], [ "abnormality of the end part of the pinkie toe bone", "abnormality of the end part of the pinkie toe bone" ], [ "abnormality of the end part of the pinky toe bone", "abnormality of the end part of the pinky toe bone" ] ], "xref": [ "UMLS:C4023893" ], "is_a": [ "HP:0010160", "HP:0010322" ], "is_obsolete": "", "replace_id": "" }, "HP:0010342": { "name": [ "abnormality of the phalanges of the 5th toe", "abnormality of the phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the little toe bones", "abnormality of the little toe bone" ], [ "abnormality of the pinkie toe bones", "abnormality of the pinkie toe bone" ], [ "abnormality of the pinky toe bones", "abnormality of the pinky toe bone" ] ], "xref": [ "UMLS:C4023892" ], "is_a": [ "HP:0010161", "HP:0010322" ], "is_obsolete": "", "replace_id": "" }, "HP:0010343": { "name": [ "aplasia / hypoplasia of the 5th toe", "aplasia / hypoplasia of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small little toe", "absent / small little toe" ], [ "absent / small pinkie toe", "absent / small pinkie toe" ], [ "absent / small pinky toe", "absent / small pinky toe" ], [ "absent / underdeveloped pinky toe", "absent / underdevelop pinky toe" ] ], "xref": [ "UMLS:C4023891" ], "is_a": [ "HP:0010322", "HP:0010760" ], "is_obsolete": "", "replace_id": "" }, "HP:0010344": { "name": [ "deviation of the 5th toe", "deviation of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "displacement of the 5th toe", "displacement of the 5th toe" ], [ "displacement of the little toe", "displacement of the little toe" ], [ "displacement of the pinkie toe", "displacement of the pinkie toe" ], [ "displacement of the pinky toe", "displacement of the pinky toe" ] ], "xref": [ "UMLS:C4021291" ], "is_a": [ "HP:0010322", "HP:0100498" ], "is_obsolete": "", "replace_id": "" }, "HP:0010345": { "name": [ "flexion contracture of the 5th toe", "flexion contracture of the 5th toe" ], "alt_id": [], "def": "One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively.", "synonym": [ [ "joint contractures of the 5th toe", "joint contracture of the 5th toe" ] ], "xref": [ "UMLS:C4021290" ], "is_a": [ "HP:0005830", "HP:0010322" ], "is_obsolete": "", "replace_id": "" }, "HP:0010347": { "name": [ "aplasia / hypoplasia of the phalanges of the 2nd toe", "aplasia / hypoplasia of the phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small bones of 2nd toe", "absent / small bone of 2nd toe" ], [ "absent / underdeveloped bones of 2nd toe", "absent / underdeveloped bone of 2nd toe" ] ], "xref": [ "UMLS:C4023890" ], "is_a": [ "HP:0010173", "HP:0010324" ], "is_obsolete": "", "replace_id": "" }, "HP:0010348": { "name": [ "broad phalanges of the 2nd toe", "broad phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "broad bones of the 2nd toe", "broad bone of the 2nd toe" ] ], "xref": [ "UMLS:C4023889" ], "is_a": [ "HP:0010174", "HP:0010324" ], "is_obsolete": "", "replace_id": "" }, "HP:0010349": { "name": [ "bullet - shaped 2nd toe phalanx", "bullet - shape 2nd toe phalanx" ], "alt_id": [], "def": "An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped bones of the 2nd toe", "bullet - shaped bone of the 2nd toe" ], [ "bullet - shaped phalanges of the 2nd toe", "bullet - shaped phalanx of the 2nd toe" ] ], "xref": [ "UMLS:C4021289" ], "is_a": [ "HP:0010175", "HP:0010324" ], "is_obsolete": "", "replace_id": "" }, "HP:0010350": { "name": [ "curved 2nd toe phalanx", "curve 2nd toe phalanx" ], "alt_id": [], "def": "A deviation from the normal straight form of one or more phalanges of the second toe.", "synonym": [ [ "curved bones of the 2nd toe", "curve bone of the 2nd toe" ], [ "curved phalanges of the 2nd toe", "curve phalanx of the 2nd toe" ] ], "xref": [ "UMLS:C4021288" ], "is_a": [ "HP:0010176", "HP:0010324" ], "is_obsolete": "", "replace_id": "" }, "HP:0010351": { "name": [ "osteolytic defects of the phalanges of the 2nd toe", "osteolytic defect of the phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023888" ], "is_a": [ "HP:0010177", "HP:0010324" ], "is_obsolete": "", "replace_id": "" }, "HP:0010352": { "name": [ "patchy sclerosis of 2nd toe phalanx", "patchy sclerosis of 2nd toe phalanx" ], "alt_id": [], "def": "Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.", "synonym": [ [ "patchy sclerosis of the phalanges of the 2nd toe", "patchy sclerosis of the phalanx of the 2nd toe" ], [ "uneven increase in bone density in 2nd toe bone", "uneven increase in bone density in 2nd toe bone" ] ], "xref": [ "UMLS:C4021287" ], "is_a": [ "HP:0010178", "HP:0010324", "HP:0100926" ], "is_obsolete": "", "replace_id": "" }, "HP:0010353": { "name": [ "second toe symphalangism", "second toe symphalangism" ], "alt_id": [], "def": "Fusion of the interphalangeal joints of the 2nd toe.", "synonym": [ [ "2nd toe symphalangism", "2nd toe symphalangism" ], [ "fused bones of 2nd toe", "fuse bone of 2nd toe" ], [ "symphalangism affecting the phalanges of the 2nd toe", "symphalangism affect the phalanx of the 2nd toe" ] ], "xref": [ "UMLS:C4023887" ], "is_a": [ "HP:0010179", "HP:0010324", "HP:0100235" ], "is_obsolete": "", "replace_id": "" }, "HP:0010354": { "name": [ "triangular shaped phalanges of the 2nd toe", "triangular shape phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular shaped bone of 2nd toe", "triangular shape bone of 2nd toe" ], [ "triangular shaped bone of second toe", "triangular shape bone of second toe" ] ], "xref": [ "UMLS:C4023886" ], "is_a": [ "HP:0010180", "HP:0010324" ], "is_obsolete": "", "replace_id": "" }, "HP:0010355": { "name": [ "duplication of the phalanges of the 2nd toe", "duplication of the phalanx of the 2nd toe" ], "alt_id": [], "def": "Partial or complete duplication of a phalanx of second toe.", "synonym": [ [ "duplication of the bones of the 2nd toe", "duplication of the bone of the 2nd toe" ], [ "partial / complete duplication of the phalanges of the 2nd toe", "partial / complete duplication of the phalanx of the 2nd toe" ] ], "xref": [ "UMLS:C4021286" ], "is_a": [ "HP:0010181", "HP:0010324" ], "is_obsolete": "", "replace_id": "" }, "HP:0010356": { "name": [ "abnormality of the distal phalanx of the 2nd toe", "abnormality of the distal phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the outermost bone of the 2nd toe", "abnormality of the outermost bone of the 2nd toe" ] ], "xref": [ "UMLS:C4023885" ], "is_a": [ "HP:0010182", "HP:0010324" ], "is_obsolete": "", "replace_id": "" }, "HP:0010357": { "name": [ "abnormality of the middle phalanx of the 2nd toe", "abnormality of the middle phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the middle bone of the 2nd toe", "abnormality of the middle bone of the 2nd toe" ] ], "xref": [ "UMLS:C4023884" ], "is_a": [ "HP:0010183", "HP:0010324" ], "is_obsolete": "", "replace_id": "" }, "HP:0010358": { "name": [ "abnormal morphology of the proximal phalanx of the 2nd toe", "abnormal morphology of the proximal phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the innermost bone of the 2nd toe", "abnormality of the innermost bone of the 2nd toe" ] ], "xref": [ "UMLS:C4023883" ], "is_a": [ "HP:0010184", "HP:0010324" ], "is_obsolete": "", "replace_id": "" }, "HP:0010359": { "name": [ "aplasia / hypoplasia of the phalanges of the 3rd toe", "aplasia / hypoplasia of the phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small bones of 3rd toe", "absent / small bone of 3rd toe" ], [ "absent / underdeveloped bones of 3rd toe", "absent / underdeveloped bone of 3rd toe" ] ], "xref": [ "UMLS:C4023882" ], "is_a": [ "HP:0010173", "HP:0010330" ], "is_obsolete": "", "replace_id": "" }, "HP:0010360": { "name": [ "broad phalanges of the 3rd toe", "broad phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "wide bones of 3rd toe", "wide bone of 3rd toe" ] ], "xref": [ "UMLS:C4023881" ], "is_a": [ "HP:0010174", "HP:0010330" ], "is_obsolete": "", "replace_id": "" }, "HP:0010361": { "name": [ "bullet - shaped 3rd toe phalanx", "bullet - shape 3rd toe phalanx" ], "alt_id": [], "def": "An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped bones of 3rd toe", "bullet - shaped bone of 3rd toe" ], [ "bullet - shaped phalanges of the 3rd toe", "bullet - shaped phalanx of the 3rd toe" ] ], "xref": [ "UMLS:C4021285" ], "is_a": [ "HP:0010175", "HP:0010330" ], "is_obsolete": "", "replace_id": "" }, "HP:0010362": { "name": [ "curved 3rd toe phalanx", "curve 3rd toe phalanx" ], "alt_id": [], "def": "A deviation from the normal straight form of one or more phalanges of the third toe.", "synonym": [ [ "curved bones of 3rd toe", "curve bone of 3rd toe" ], [ "curved phalanges of the 3rd toe", "curve phalanx of the 3rd toe" ] ], "xref": [ "UMLS:C4021284" ], "is_a": [ "HP:0010176", "HP:0010330" ], "is_obsolete": "", "replace_id": "" }, "HP:0010363": { "name": [ "osteolytic defects of the phalanges of the 3rd toe", "osteolytic defect of the phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021825" ], "is_a": [ "HP:0010177", "HP:0010330" ], "is_obsolete": "", "replace_id": "" }, "HP:0010364": { "name": [ "patchy sclerosis of 3rd toe phalanx", "patchy sclerosis of 3rd toe phalanx" ], "alt_id": [], "def": "Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.", "synonym": [ [ "patchy sclerosis of the phalanges of the 3rd toe", "patchy sclerosis of the phalanx of the 3rd toe" ], [ "uneven increase in bone density in 3rd toe bone", "uneven increase in bone density in 3rd toe bone" ] ], "xref": [ "UMLS:C4021283" ], "is_a": [ "HP:0010178", "HP:0010330", "HP:0100927" ], "is_obsolete": "", "replace_id": "" }, "HP:0010365": { "name": [ "symphalangism affecting the phalanges of the 3rd toe", "symphalangism affect the phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused bones of 3rd toe", "fuse bone of 3rd toe" ] ], "xref": [ "UMLS:C4023880" ], "is_a": [ "HP:0010179", "HP:0010330", "HP:0100235" ], "is_obsolete": "", "replace_id": "" }, "HP:0010366": { "name": [ "triangular shaped phalanges of the 3rd toe", "triangular shape phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular shaped 3rd toe bones", "triangular shape 3rd toe bone" ] ], "xref": [ "UMLS:C4023879" ], "is_a": [ "HP:0010180", "HP:0010330" ], "is_obsolete": "", "replace_id": "" }, "HP:0010367": { "name": [ "duplication of phalanx of the 3rd toe", "duplication of phalanx of the 3rd toe" ], "alt_id": [], "def": "Partial or complete duplication of phalanx of third toe.", "synonym": [ [ "duplication of 3rd toe bone", "duplication of 3rd toe bone" ], [ "duplication of phalanx of the third toe", "duplication of phalanx of the third toe" ], [ "partial / complete duplication of the phalanges of the 3rd toe", "partial / complete duplication of the phalanx of the 3rd toe" ] ], "xref": [ "UMLS:C4021282" ], "is_a": [ "HP:0010181", "HP:0010330" ], "is_obsolete": "", "replace_id": "" }, "HP:0010368": { "name": [ "abnormality of the distal phalanx of the 3rd toe", "abnormality of the distal phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the outermost bone of the 3rd toe", "abnormality of the outermost bone of the 3rd toe" ] ], "xref": [ "UMLS:C4023878" ], "is_a": [ "HP:0010182", "HP:0010330" ], "is_obsolete": "", "replace_id": "" }, "HP:0010369": { "name": [ "abnormality of the middle phalanx of the 3rd toe", "abnormality of the middle phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the middle bone of 3rd toe", "abnormality of the middle bone of 3rd toe" ] ], "xref": [ "UMLS:C4023877" ], "is_a": [ "HP:0010183", "HP:0010330" ], "is_obsolete": "", "replace_id": "" }, "HP:0010370": { "name": [ "abnormal morphology of the proximal phalanx of the 3rd toe", "abnormal morphology of the proximal phalanx of the 3rd toe" ], "alt_id": [], "def": "An anomaly of the proximal phalanx of third toe.", "synonym": [ [ "abnormality of the innermost bone of 3rd toe", "abnormality of the innermost bone of 3rd toe" ] ], "xref": [ "UMLS:C4023876" ], "is_a": [ "HP:0010184", "HP:0010330" ], "is_obsolete": "", "replace_id": "" }, "HP:0010371": { "name": [ "aplasia / hypoplasia of the phalanges of the 4th toe", "aplasia / hypoplasia of the phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small bones of 4th toe", "absent / small bone of 4th toe" ], [ "absent / underdeveloped bones of 4th toe", "absent / underdeveloped bone of 4th toe" ] ], "xref": [ "UMLS:C4023875" ], "is_a": [ "HP:0010173", "HP:0010336" ], "is_obsolete": "", "replace_id": "" }, "HP:0010372": { "name": [ "broad phalanges of the 4th toe", "broad phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "broad bones of the 4th toe", "broad bone of the 4th toe" ] ], "xref": [ "UMLS:C4023874" ], "is_a": [ "HP:0010174", "HP:0010336" ], "is_obsolete": "", "replace_id": "" }, "HP:0010373": { "name": [ "bullet - shaped 4th toe phalanx", "bullet - shape 4th toe phalanx" ], "alt_id": [], "def": "An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped bones of the 4th toe", "bullet - shaped bone of the 4th toe" ], [ "bullet - shaped phalanges of the 4th toe", "bullet - shaped phalanx of the 4th toe" ] ], "xref": [ "UMLS:C4021281" ], "is_a": [ "HP:0010175", "HP:0010336" ], "is_obsolete": "", "replace_id": "" }, "HP:0010374": { "name": [ "curved 4th toe phalanx", "curve 4th toe phalanx" ], "alt_id": [], "def": "A deviation from the normal straight form of one or more phalanges of the fourth toe.", "synonym": [ [ "curved bones of 4th toe", "curve bone of 4th toe" ], [ "curved phalanges of the 4th toe", "curve phalanx of the 4th toe" ] ], "xref": [ "UMLS:C4021280" ], "is_a": [ "HP:0010176", "HP:0010336" ], "is_obsolete": "", "replace_id": "" }, "HP:0010375": { "name": [ "osteolytic defects of the phalanges of the 4th toe", "osteolytic defect of the phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023873" ], "is_a": [ "HP:0010177", "HP:0010336" ], "is_obsolete": "", "replace_id": "" }, "HP:0010376": { "name": [ "patchy sclerosis of 4th toe phalanx", "patchy sclerosis of 4th toe phalanx" ], "alt_id": [], "def": "Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.", "synonym": [ [ "patchy sclerosis of the phalanges of the 4th toe", "patchy sclerosis of the phalanx of the 4th toe" ], [ "uneven increase in bone density in 4th toe bone", "uneven increase in bone density in 4th toe bone" ] ], "xref": [ "UMLS:C4021279" ], "is_a": [ "HP:0010178", "HP:0010336", "HP:0100928" ], "is_obsolete": "", "replace_id": "" }, "HP:0010377": { "name": [ "symphalangism affecting the phalanges of the 4th toe", "symphalangism affect the phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused bones of 4th toe", "fuse bone of 4th toe" ] ], "xref": [ "UMLS:C4023872" ], "is_a": [ "HP:0010179", "HP:0010336", "HP:0100235" ], "is_obsolete": "", "replace_id": "" }, "HP:0010378": { "name": [ "triangular shaped phalanges of the 4th toe", "triangular shape phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular shaped bones of 4th toe", "triangular shape bone of 4th toe" ] ], "xref": [ "UMLS:C4023871" ], "is_a": [ "HP:0010180", "HP:0010336" ], "is_obsolete": "", "replace_id": "" }, "HP:0010379": { "name": [ "duplication of phalanx of the 4th toe", "duplication of phalanx of the 4th toe" ], "alt_id": [], "def": "Partial or complete duplication of phalanx of fourth toe.", "synonym": [ [ "duplication of 4th toe bone", "duplication of 4th toe bone" ], [ "duplication of phalanx of the fourth toe", "duplication of phalanx of the fourth toe" ], [ "partial / complete duplication of the phalanges of the 4th toe", "partial / complete duplication of the phalanx of the 4th toe" ] ], "xref": [ "UMLS:C4021278" ], "is_a": [ "HP:0010181", "HP:0010336" ], "is_obsolete": "", "replace_id": "" }, "HP:0010380": { "name": [ "abnormality of the distal phalanx of the 4th toe", "abnormality of the distal phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the outermost 4th toe bone", "abnormality of the outermost 4th toe bone" ] ], "xref": [ "UMLS:C4023870" ], "is_a": [ "HP:0010182", "HP:0010336" ], "is_obsolete": "", "replace_id": "" }, "HP:0010381": { "name": [ "abnormality of the middle phalanx of the 4th toe", "abnormality of the middle phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of middle 4th toe bone", "abnormality of middle 4th toe bone" ] ], "xref": [ "UMLS:C4023869" ], "is_a": [ "HP:0010183" ], "is_obsolete": "", "replace_id": "" }, "HP:0010382": { "name": [ "abnormal morphology of the proximal phalanx of the 4th toe", "abnormal morphology of the proximal phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal innermost 4th toe bone", "abnormal innermost 4th toe bone" ] ], "xref": [ "UMLS:C4023868" ], "is_a": [ "HP:0010184", "HP:0010336" ], "is_obsolete": "", "replace_id": "" }, "HP:0010383": { "name": [ "aplasia / hypoplasia of the phalanges of the 5th toe", "aplasia / hypoplasia of the phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small little toe bones", "absent / small little toe bone" ], [ "absent / small pinkie toe bones", "absent / small pinkie toe bone" ], [ "absent / small pinky toe bones", "absent / small pinky toe bone" ], [ "absent / underdeveloped pinky toe bones", "absent / underdevelop pinky toe bone" ] ], "xref": [ "UMLS:C4023867" ], "is_a": [ "HP:0010173", "HP:0010342" ], "is_obsolete": "", "replace_id": "" }, "HP:0010384": { "name": [ "broad phalanges of the 5th toe", "broad phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "broad bones of the little toe", "broad bone of the little toe" ], [ "broad bones of the pinkie toe", "broad bone of the pinkie toe" ], [ "broad bones of the pinky toe", "broad bone of the pinky toe" ] ], "xref": [ "UMLS:C4023866" ], "is_a": [ "HP:0010174", "HP:0010342" ], "is_obsolete": "", "replace_id": "" }, "HP:0010385": { "name": [ "bullet - shaped 5th toe phalanx", "bullet - shape 5th toe phalanx" ], "alt_id": [], "def": "An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped bones of the little toe", "bullet - shaped bone of the little toe" ], [ "bullet - shaped bones of the pinkie toe", "bullet - shaped bone of the pinkie toe" ], [ "bullet - shaped bones of the pinky toe", "bullet - shaped bone of the pinky toe" ], [ "bullet - shaped phalanges of the 5th toe", "bullet - shaped phalanx of the 5th toe" ] ], "xref": [ "UMLS:C4021277" ], "is_a": [ "HP:0010175", "HP:0010342" ], "is_obsolete": "", "replace_id": "" }, "HP:0010386": { "name": [ "curved 5th toe phalanx", "curve 5th toe phalanx" ], "alt_id": [], "def": "A deviation from the normal straight form of one or more phalanges of the fifth toe.", "synonym": [ [ "curved little toe bones", "curve little toe bone" ], [ "curved phalanges of the 5th toe", "curve phalanx of the 5th toe" ], [ "curved pinkie toe bones", "curve pinkie toe bone" ], [ "curved pinky toe bones", "curve pinky toe bone" ] ], "xref": [ "UMLS:C4021276" ], "is_a": [ "HP:0010176", "HP:0010342" ], "is_obsolete": "", "replace_id": "" }, "HP:0010387": { "name": [ "osteolytic defects of the phalanges of the 5th toe", "osteolytic defect of the phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023865" ], "is_a": [ "HP:0010177", "HP:0010342" ], "is_obsolete": "", "replace_id": "" }, "HP:0010388": { "name": [ "patchy sclerosis of 5th toe phalanx", "patchy sclerosis of 5th toe phalanx" ], "alt_id": [], "def": "Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.", "synonym": [ [ "patchy sclerosis of the phalanges of the 5th toe", "patchy sclerosis of the phalanx of the 5th toe" ], [ "uneven increase in bone density in little toe bone", "uneven increase in bone density in little toe bone" ], [ "uneven increase in bone density in pinkie toe bone", "uneven increase in bone density in pinkie toe bone" ], [ "uneven increase in bone density in pinky toe bone", "uneven increase in bone density in pinky toe bone" ] ], "xref": [ "UMLS:C4021275" ], "is_a": [ "HP:0010178", "HP:0010342", "HP:0100929" ], "is_obsolete": "", "replace_id": "" }, "HP:0010389": { "name": [ "symphalangism affecting the phalanges of the 5th toe", "symphalangism affect the phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused bones in the little toe", "fuse bone in the little toe" ], [ "fused bones in the pinkie toe", "fuse bone in the pinkie toe" ], [ "fused bones in 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"duplication of the bones of the pinkie toe", "duplication of the bone of the pinkie toe" ], [ "duplication of the bones of the pinky toe", "duplication of the bone of the pinky toe" ], [ "duplication of the phalanges of the fifth toe", "duplication of the phalanx of the fifth toe" ], [ "partial / complete duplication of the phalanges of the 5th toe", "partial / complete duplication of the phalanx of the 5th toe" ] ], "xref": [ "UMLS:C4020903" ], "is_a": [ "HP:0010181", "HP:0010342" ], "is_obsolete": "", "replace_id": "" }, "HP:0010392": { "name": [ "abnormality of the distal phalanx of the 5th toe", "abnormality of the distal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the outermost bone of the little toe", "abnormality of the outermost bone of the little toe" ], [ "abnormality of the outermost bone of the pinkie toe", "abnormality of the outermost bone of the pinkie toe" ], [ "abnormality of the outermost bone of the pinky toe", "abnormality of the outermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4023862" ], "is_a": [ "HP:0010182" ], "is_obsolete": "", "replace_id": "" }, "HP:0010393": { "name": [ "abnormality of the middle phalanx of the 5th toe", "abnormality of the middle phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the middle bone of the little toe", "abnormality of the middle bone of the little toe" ], [ "abnormality of the middle bone of the pinkie toe", "abnormality of the middle bone of the pinkie toe" ], [ "abnormality of the middle bone of the pinky toe", "abnormality of the middle bone of the pinky toe" ] ], "xref": [ "UMLS:C4023861" ], "is_a": [ "HP:0010183", "HP:0010342" ], "is_obsolete": "", "replace_id": "" }, "HP:0010394": { "name": [ "abnormal morphology of the proximal phalanx of the 5th toe", "abnormal morphology of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the innermost bone of the little toe", "abnormality of the innermost bone of the little toe" ], [ "abnormality of the innermost bone of the pinkie toe", "abnormality of the innermost bone of the pinkie toe" ], [ "abnormality of the innermost bone of the pinky toe", "abnormality of the innermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4023860" ], "is_a": [ "HP:0010184", "HP:0010342" ], "is_obsolete": "", "replace_id": "" }, "HP:0010395": { "name": [ "aplasia / hypoplasia of the proximal phalanx of the 2nd toe", "aplasia / hypoplasia of the proximal phalanx of the 2nd toe" ], "alt_id": [], "def": "Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe.", "synonym": [ [ "absent / small innermost 2nd toe bone", "absent / small innermost 2nd toe bone" ], [ "absent / underdeveloped innermost 2nd toe bone", "absent / underdevelop innermost 2nd toe bone" ] ], "xref": [ "UMLS:C4023859" ], "is_a": [ "HP:0010203", "HP:0010325", "HP:0010347", "HP:0010358" ], "is_obsolete": "", "replace_id": "" }, "HP:0010396": { "name": [ "broad proximal phalanx of the 2nd toe", "broad proximal phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "broad innermost bone of 2nd toe", "broad innermost bone of 2nd toe" ] ], "xref": [ "UMLS:C4023858" ], "is_a": [ "HP:0010204", "HP:0010348", "HP:0010358" ], "is_obsolete": "", "replace_id": "" }, "HP:0010397": { "name": [ "bullet - shaped proximal phalanx of the 2nd toe", "bullet - shape proximal phalanx of the 2nd toe" ], "alt_id": [], "def": "An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped innermost bone of 2nd toe", "bullet - shape innermost bone of 2nd toe" ] ], "xref": [ "UMLS:C4023857" ], "is_a": [ "HP:0010205", "HP:0010349", "HP:0010358" ], "is_obsolete": "", "replace_id": "" }, "HP:0010398": { "name": [ "curved proximal phalanx of the 2nd toe", "curve proximal phalanx of the 2nd toe" ], "alt_id": [], "def": "A deviation from the normal straight form of the proximal phalanx of the 2nd toe.", "synonym": [ [ "curved innermost bone of 2nd toe", "curve innermost bone of 2nd toe" ] ], "xref": [ "UMLS:C4023856" ], "is_a": [ "HP:0010206", "HP:0010350", "HP:0010358" ], "is_obsolete": "", "replace_id": "" }, "HP:0010399": { "name": [ "osteolytic defects of the proximal phalanx of the 2nd toe", "osteolytic defect of the proximal phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023855" ], "is_a": [ "HP:0010351", "HP:0010358" ], "is_obsolete": "", "replace_id": "" }, "HP:0010400": { "name": [ "patchy sclerosis of the proximal phalanx of the 2nd toe", "patchy sclerosis of the proximal phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "uneven increase in bone density in the innermost bone of the 2nd toe", "uneven increase in bone density in the innermost bone of the 2nd toe" ] ], "xref": [ "UMLS:C4023854" ], "is_a": [ "HP:0010208", "HP:0010352", "HP:0010358", "HP:0100931" ], "is_obsolete": "", "replace_id": "" }, "HP:0010401": { "name": [ "symphalangism affecting the proximal phalanx of the 2nd toe", "symphalangism affect the proximal phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused innermost bone of the 2nd toe", "fuse innermost bone of the 2nd toe" ] ], "xref": [ "UMLS:C4023853" ], "is_a": [ "HP:0010353", "HP:0010358" ], "is_obsolete": "", "replace_id": "" }, "HP:0010402": { "name": [ "triangular shaped proximal phalanx of the 2nd toe", "triangular shape proximal phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular shaped innermost 2nd toe bone", "triangular shape innermost 2nd toe bone" ] ], "xref": [ "UMLS:C4023852" ], "is_a": [ "HP:0010354", "HP:0010358" ], "is_obsolete": "", "replace_id": "" }, "HP:0010403": { "name": [ "duplication of the proximal phalanx of the 2nd toe", "duplication of the proximal phalanx of the 2nd toe" ], "alt_id": [], "def": "Partial or complete duplication of proximal phalanx of second toe.", "synonym": [ [ "duplication of innermost 2nd toe bone", "duplication of innermost 2nd toe bone" ], [ "duplication of the proximal phalanx of the second toe", "duplication of the proximal phalanx of the second toe" ], [ "partial / complete duplication of the proximal phalanx of the 2nd toe", "partial / complete duplication of the proximal phalanx of the 2nd toe" ] ], "xref": [ "UMLS:C4021274" ], "is_a": [ "HP:0010355", "HP:0010358" ], "is_obsolete": "", "replace_id": "" }, "HP:0010404": { "name": [ "aplasia / hypoplasia of the middle phalanx of the 2nd toe", "aplasia / hypoplasia of the middle phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small middle bone of 2nd toe", "absent / small middle bone of 2nd toe" ], [ "absent / underdeveloped middle bone of 2nd toe", "absent / underdevelop middle bone of 2nd toe" ] ], "xref": [ "UMLS:C4023851" ], "is_a": [ "HP:0010194", "HP:0010325", "HP:0010347", "HP:0010357" ], "is_obsolete": "", "replace_id": "" }, "HP:0010405": { "name": [ "broad middle phalanx of the 2nd toe", "broad middle phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "broad middle bone of 2nd toe", "broad middle bone of 2nd toe" ] ], "xref": [ "UMLS:C4023850" ], "is_a": [ "HP:0010195", "HP:0010348", "HP:0010357" ], "is_obsolete": "", "replace_id": "" }, "HP:0010406": { "name": [ "bullet - shaped middle phalanx of the 2nd toe", "bullet - shape middle phalanx of the 2nd toe" ], "alt_id": [], "def": "An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped middle bone of 2nd toe", "bullet - shape middle bone of 2nd toe" ] ], "xref": [ "UMLS:C4023849" ], "is_a": [ "HP:0010349", "HP:0010357" ], "is_obsolete": "", "replace_id": "" }, "HP:0010407": { "name": [ "curved middle phalanx of the 2nd toe", "curve middle phalanx of the 2nd toe" ], "alt_id": [], "def": "A deviation from the normal straight form of the middle phalanx of the 2nd toe.", "synonym": [ [ "curved middle bone of 2nd toe", "curve middle bone of 2nd toe" ] ], "xref": [ "UMLS:C4023848" ], "is_a": [ "HP:0010197", "HP:0010350", "HP:0010357" ], "is_obsolete": "", "replace_id": "" }, "HP:0010408": { "name": [ "osteolytic defects of the middle phalanx of the 2nd toe", "osteolytic defect of the middle phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023847" ], "is_a": [ "HP:0010351", "HP:0010357" ], "is_obsolete": "", "replace_id": "" }, "HP:0010409": { "name": [ "patchy sclerosis of the middle phalanx of the 2nd toe", "patchy sclerosis of the middle phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "uneven increase in bone density in the middle bone of the 2nd toe", "uneven increase in bone density in the middle bone of the 2nd toe" ] ], "xref": [ "UMLS:C4023846" ], "is_a": [ "HP:0010199", "HP:0010352", "HP:0010357", "HP:0100935" ], "is_obsolete": "", "replace_id": "" }, "HP:0010410": { "name": [ "symphalangism affecting the middle phalanx of the 2nd toe", "symphalangism affect the middle phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused middle bone of 2nd toe", "fuse middle bone of 2nd toe" ] ], "xref": [ "UMLS:C4023845" ], "is_a": [ "HP:0010353", "HP:0010357" ], "is_obsolete": "", "replace_id": "" }, "HP:0010411": { "name": [ "triangular shaped middle phalanx of the 2nd toe", "triangular shape middle phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular shaped middle bone of 2nd toe", "triangular shape middle bone of 2nd toe" ] ], "xref": [ "UMLS:C4023844" ], "is_a": [ "HP:0010354", "HP:0010357" ], "is_obsolete": "", "replace_id": "" }, "HP:0010412": { "name": [ "duplication of the middle phalanx of the 2nd toe", "duplication of the middle phalanx of the 2nd toe" ], "alt_id": [], "def": "Partial or complete duplication of middle phalanx of second toe.", "synonym": [ [ "duplication of middle bone of 2nd toe", "duplication of middle bone of 2nd toe" ], [ "partial / complete duplication of the middle phalanx of the 2nd toe", "partial / complete duplication of the middle phalanx of the 2nd toe" ] ], "xref": [ "UMLS:C4021273" ], "is_a": [ "HP:0010355", "HP:0010357" ], "is_obsolete": "", "replace_id": "" }, "HP:0010413": { "name": [ "aplasia / hypoplasia of the distal phalanx of the 2nd toe", "aplasia / hypoplasia of the distal phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small outermost 2nd toe bone", "absent / small outermost 2nd toe bone" ], [ "absent / underdeveloped outermost 2nd toe bone", "absent / underdevelop outermost 2nd toe bone" ] ], "xref": [ "UMLS:C4023843" ], "is_a": [ "HP:0010185", "HP:0010325", "HP:0010347", "HP:0010356" ], "is_obsolete": "", "replace_id": "" }, "HP:0010414": { "name": [ "broad distal phalanx of the 2nd toe", "broad distal phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "broad outermost bone of the 2nd toe", "broad outermost bone of the 2nd toe" ], [ "wide outermost bone of the 2nd toe", "wide outermost bone of the 2nd toe" ] ], "xref": [ "UMLS:C4023842" ], "is_a": [ "HP:0010186", "HP:0010348", "HP:0010356" ], "is_obsolete": "", "replace_id": "" }, "HP:0010415": { "name": [ "bullet - shaped distal phalanx of the 2nd toe", "bullet - shaped distal phalanx of the 2nd toe" ], "alt_id": [], "def": "An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.", "synonym": [ [ "bullet - shaped outermost bone of the 2nd toe", "bullet - shape outermost bone of the 2nd toe" ] ], "xref": [ "UMLS:C4023841" ], "is_a": [ "HP:0010349", "HP:0010356" ], "is_obsolete": "", "replace_id": "" }, "HP:0010416": { "name": [ "curved distal phalanx of the 2nd toe", "curve distal phalanx of the 2nd toe" ], "alt_id": [], "def": "A deviation from the normal straight form of the distal phalanx of the 2nd toe.", "synonym": [ [ "curved outermost bone of the 2nd toe", "curve outermost bone of the 2nd toe" ] ], "xref": [ "UMLS:C4023840" ], "is_a": [ "HP:0010188", "HP:0010350", "HP:0010356" ], "is_obsolete": "", "replace_id": "" }, "HP:0010417": { "name": [ "osteolytic defects of the distal phalanx of the 2nd toe", "osteolytic defect of the distal phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023839" ], "is_a": [ "HP:0010351", "HP:0010356" ], "is_obsolete": "", "replace_id": "" }, "HP:0010418": { "name": [ "patchy sclerosis of the distal phalanx of the 2nd toe", "patchy sclerosis of the distal phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "uneven increase in bone density in the outermost bone of the 2nd toe", "uneven increase in bone density in the outermost bone of the 2nd toe" ] ], "xref": [ "UMLS:C4023838" ], "is_a": [ "HP:0010190", "HP:0010352", "HP:0100939" ], "is_obsolete": "", "replace_id": "" }, "HP:0010419": { "name": [ "symphalangism affecting the distal phalanx of the 2nd toe", "symphalangism affect the distal phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused outermost bone of the 2nd toe", "fuse outermost bone of the 2nd toe" ] ], "xref": [ "UMLS:C4023837" ], "is_a": [ "HP:0001859", "HP:0010356", "HP:0010410" ], "is_obsolete": "", "replace_id": "" }, "HP:0010420": { "name": [ "triangular shaped distal phalanx of the 2nd toe", "triangular shape distal phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular shaped outermost 2nd toe bone", "triangular shape outermost 2nd toe bone" ] ], "xref": [ "UMLS:C4023836" ], "is_a": [ "HP:0010354", "HP:0010356" ], "is_obsolete": "", "replace_id": "" }, "HP:0010421": { "name": [ "duplication of the distal phalanx of the 2nd toe", "duplication of the distal phalanx of the 2nd toe" ], "alt_id": [], "def": "Partial or complete duplication of the distal phalanx of second toe.", "synonym": [ [ "duplication of the outermost bone of the 2nd toe", "duplication of the outermost bone of the 2nd toe" ], [ "partial / complete duplication of the distal phalanx of the 2nd toe", "partial / complete duplication of the distal phalanx of the 2nd toe" ] ], "xref": [ "UMLS:C4021272" ], "is_a": [ "HP:0010193", "HP:0010355", "HP:0010356" ], "is_obsolete": "", "replace_id": "" }, "HP:0010422": { "name": [ "complete duplication of the proximal phalanx of the 2nd toe", "complete duplication of the proximal phalanx of the 2nd toe" ], "alt_id": [], "def": "Complete duplication of proximal phalanx of second toe.", "synonym": [ [ "complete duplication of the innermost 2nd toe bone", "complete duplication of the innermost 2nd toe bone" ], [ "complete duplication of the proximal phalanx of the second toe", "complete duplication of the proximal phalanx of the second toe" ] ], "xref": [ "UMLS:C4021271" ], "is_a": [ "HP:0010403", "HP:0010429" ], "is_obsolete": "", "replace_id": "" }, "HP:0010423": { "name": [ "partial duplication of the proximal phalanx of the 2nd toe", "partial duplication of the proximal phalanx of the 2nd toe" ], "alt_id": [], "def": "Partial duplication of proximal phalanx of second toe.", "synonym": [ [ "partial duplication of the innermost 2nd toe bone", "partial duplication of the innermost 2nd toe bone" ], [ "partial duplication of the proximal phalanx of the second toe", "partial duplication of the proximal phalanx of the second toe" ] ], "xref": [ "UMLS:C4021270" ], "is_a": [ "HP:0010403", "HP:0010428" ], "is_obsolete": "", "replace_id": "" }, "HP:0010424": { "name": [ "complete duplication of the distal phalanx of the 2nd toe", "complete duplication of the distal phalanx of the 2nd toe" ], "alt_id": [], "def": "Complete duplication of the distal phalanx of second toe.", "synonym": [ [ "complete duplication of the outermost bone of the 2nd toe", "complete duplication of the outermost bone of the 2nd toe" ] ], "xref": [ "UMLS:C4023835" ], "is_a": [ "HP:0010421", "HP:0010429" ], "is_obsolete": "", "replace_id": "" }, "HP:0010425": { "name": [ "partial duplication of the distal phalanx of the 2nd toe", "partial duplication of the distal phalanx of the 2nd toe" ], "alt_id": [], "def": "Partial duplication of the distal phalanx of second toe.", "synonym": [ [ "partial duplication of the outermost bone of the 2nd toe", "partial duplication of the outermost bone of the 2nd toe" ] ], "xref": [ "UMLS:C4023834" ], "is_a": [ "HP:0010421", "HP:0010428" ], "is_obsolete": "", "replace_id": "" }, "HP:0010426": { "name": [ "complete duplication of the middle phalanx of the 2nd toe", "complete duplication of the middle phalanx of the 2nd toe" ], "alt_id": [], "def": "Complete duplication of middle phalanx of second toe.", "synonym": [ [ "complete duplication of the middle bone of the 2nd toe", "complete duplication of the middle bone of the 2nd toe" ] ], "xref": [ "UMLS:C4023833" ], "is_a": [ "HP:0010412", "HP:0010429" ], "is_obsolete": "", "replace_id": "" }, "HP:0010427": { "name": [ "partial duplication of the middle phalanx of the 2nd toe", "partial duplication of the middle phalanx of the 2nd toe" ], "alt_id": [], "def": "Partial duplication of middle phalanx of second toe.", "synonym": [ [ "partial duplication of the middle bone of the 2nd toe", "partial duplication of the middle bone of the 2nd toe" ] ], "xref": [ "UMLS:C4023832" ], "is_a": [ "HP:0010412", "HP:0010428" ], "is_obsolete": "", "replace_id": "" }, "HP:0010428": { "name": [ "partial duplication of phalanx of the 2nd toe", "partial duplication of phalanx of the 2nd toe" ], "alt_id": [], "def": "Partial duplication of a phalanx of second toe.", "synonym": [ [ "partial duplication of 2nd toe bone", "partial duplication of 2nd toe bone" ] ], "xref": [ "UMLS:C4023831" ], "is_a": [ "HP:0010355" ], "is_obsolete": "", "replace_id": "" }, "HP:0010429": { "name": [ "complete duplication of the phalanges of the 2nd toe", "complete duplication of the phalanx of the 2nd toe" ], "alt_id": [], "def": "Complete duplication of a phalanx of second toe.", "synonym": [ [ "complete duplication of the 2nd toe bones", "complete duplication of the 2nd toe bone" ] ], "xref": [ "UMLS:C4023830" ], "is_a": [ "HP:0010355" ], "is_obsolete": "", "replace_id": "" }, "HP:0010430": { "name": [ "aplasia of the phalanges of the 2nd toe", "aplasia of the phalanx of the 2nd toe" ], "alt_id": [ "HP:0100361" ], "def": "", "synonym": [ [ "absent 2nd toe bones", "absent 2nd toe bone" ] ], "xref": [ "UMLS:C4023829" ], "is_a": [ "HP:0010325", "HP:0010347", "HP:0010745" ], "is_obsolete": "", "replace_id": "" }, "HP:0010431": { "name": [ "short phalanx of the 2nd toe", "short phalanx of the 2nd toe" ], "alt_id": [ "HP:0100365" ], "def": "Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia.", "synonym": [ [ "hypoplastic / small phalanges of the 2nd toe", "hypoplastic / small phalanx of the 2nd toe" ], [ "short 2nd toe bone", "short 2nd toe bone" ], [ "short phalanx of the second toe", "short phalanx of the second toe" ] ], "xref": [ "UMLS:C4021269" ], "is_a": [ "HP:0010325", "HP:0010347", "HP:0010746" ], "is_obsolete": "", "replace_id": "" }, "HP:0010432": { "name": [ "absent distal phalanx of the 2nd toe", "absent distal phalanx of the 2nd toe" ], "alt_id": [], "def": "Absence of distal phalanx of the second toe as a result of developmental aplasia.", "synonym": [ [ "absent distal phalanx of the second toe", "absent distal phalanx of the second toe" ], [ "absent outermost bone of the 2nd toe", "absent outermost bone of the 2nd toe" ], [ "aplasia of the distal phalanx of the 2nd toe", "aplasia of the distal phalanx of the 2nd toe" ] ], "xref": [ "UMLS:C4021268" ], "is_a": [ "HP:0010413", "HP:0010430", "HP:0010645" ], "is_obsolete": "", "replace_id": "" }, "HP:0010433": { "name": [ "short distal phalanx of the 2nd toe", "short distal phalanx of the 2nd toe" ], "alt_id": [], "def": "Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia.", "synonym": [ [ "hypoplastic / small distal phalanx of the 2nd toe", "hypoplastic / small distal phalanx of the 2nd toe" ], [ "short distal phalanx of the second toe", "short distal phalanx of the second toe" ], [ "short outermost bone of the 2nd toe", "short outermost bone of the 2nd toe" ] ], "xref": [ "UMLS:C4021267" ], "is_a": [ "HP:0010413", "HP:0010431" ], "is_obsolete": "", "replace_id": "" }, "HP:0010434": { "name": [ "aplasia of the middle phalanx of the 2nd toe", "aplasia of the middle phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent middle bone of 2nd toe", "absent middle bone of 2nd toe" ] ], "xref": [ "UMLS:C4023828" ], "is_a": [ "HP:0010404", "HP:0010430", "HP:0100388" ], "is_obsolete": "", "replace_id": "" }, "HP:0010435": { "name": [ "short middle phalanx of the 2nd toe", "short middle phalanx of the 2nd toe" ], "alt_id": [], "def": "Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia.", "synonym": [ [ "hypoplastic / small middle phalanx of the 2nd toe", "hypoplastic / small middle phalanx of the 2nd toe" ], [ "short middle 2nd toe bone", "short middle 2nd toe bone" ], [ "short middle phalanx of the second toe", "short middle phalanx of the second toe" ] ], "xref": [ "UMLS:C4021266" ], "is_a": [ "HP:0010404", "HP:0010431" ], "is_obsolete": "", "replace_id": "" }, "HP:0010436": { "name": [ "aplasia of the proximal phalanx of the 2nd toe", "aplasia of the proximal phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent innermost 2nd toe bone", "absent innermost 2nd toe bone" ] ], "xref": [ "UMLS:C4023827" ], "is_a": [ "HP:0010395", "HP:0010430" ], "is_obsolete": "", "replace_id": "" }, "HP:0010437": { "name": [ "short proximal phalanx of the 2nd toe", "short proximal phalanx of the 2nd toe" ], "alt_id": [], "def": "Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia.", "synonym": [ [ "hypoplastic / small proximal phalanx of the 2nd toe", "hypoplastic / small proximal phalanx of the 2nd toe" ], [ "short innermost 2nd toe bone", "short innermost 2nd toe bone" ], [ "short proximal phalanx of the second toe", "short proximal phalanx of the second toe" ] ], "xref": [ "UMLS:C4021265" ], "is_a": [ "HP:0010395", "HP:0010431" ], "is_obsolete": "", "replace_id": "" }, "HP:0010438": { "name": [ "abnormal ventricular septum morphology", "abnormal ventricular septum morphology" ], "alt_id": [ "HP:0001628" ], "def": "A structural abnormality of the interventricular septum.", "synonym": [ [ "abnormal interventricular septum morphology", "abnormal interventricular septum morphology" ], [ "abnormality of the ventricular septum", "abnormality of the ventricular septum" ], [ "ventricular septum abnormality", "ventricular septum abnormality" ] ], "xref": [ "Fyler:1815", "UMLS:C4021264" ], "is_a": [ "HP:0001671", "HP:0001713" ], "is_obsolete": "", "replace_id": "" }, "HP:0010440": { "name": [ "ectopic accesory toe - like appendage", "ectopic accesory toe - like appendage" ], "alt_id": [], "def": "In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).", "synonym": [], "xref": [ "UMLS:C4023826" ], "is_a": [ "HP:0001829" ], "is_obsolete": "", "replace_id": "" }, "HP:0010441": { "name": [ "ectopic accessory finger - like appendage", "ectopic accessory finger - like appendage" ], "alt_id": [], "def": "In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).", "synonym": [], "xref": [ "UMLS:C4023825" ], "is_a": [ "HP:0001161" ], "is_obsolete": "", "replace_id": "" }, "HP:0010442": { "name": [ "polydactyly", "polydactyly" ], "alt_id": [ "HP:0006034", "HP:0006046", "HP:0006123", "HP:0009605" ], "def": "A congenital anomaly characterized by the presence of supernumerary fingers or toes.", "synonym": [ [ "more than five fingers or toes on hands or feet", "more than five finger or toe on hand or foot" ] ], "xref": [ "Fyler:4103", "MSH:D017689", "SNOMEDCT_US:367506006", "UMLS:C0152427" ], "is_a": [ "HP:0011297" ], "is_obsolete": "", "replace_id": "" }, "HP:0010443": { "name": [ "bifid femur", "bifid femur" ], "alt_id": [], "def": "A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.", "synonym": [ [ "notched thighbone", "notch thighbone" ], [ "split thighbone", "split thighbone" ] ], "xref": [ "UMLS:C4023824" ], "is_a": [ "HP:0002823" ], "is_obsolete": "", "replace_id": "" }, "HP:0010444": { "name": [ "pulmonary insufficiency", "pulmonary insufficiency" ], "alt_id": [], "def": "The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.", "synonym": [ [ "pulmonary incompetence", "pulmonary incompetence" ], [ "puolmonary valve insufficiency", "puolmonary valve insufficiency" ] ], "xref": [ "MSH:D011665", "SNOMEDCT_US:91434003", "UMLS:C0034088" ], "is_a": [ "HP:0031654" ], "is_obsolete": "", "replace_id": "" }, "HP:0010445": { "name": [ "primum atrial septal defect", "primum atrial septal defect" ], "alt_id": [], "def": "An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum.", "synonym": [ [ "atrial septal defect , primum type", "atrial septal defect , primum type" ], [ "ostium primum atrial septal defect", "ostium primum atrial septal defect" ], [ "primum atrioventricular canal defect", "primum atrioventricular canal defect" ], [ "septum primum defect", "septum primum defect" ] ], "xref": [ "Fyler:1110", "MSH:C536112", "MSH:C548006", "SNOMEDCT_US:253373002", "UMLS:C0344735", "UMLS:C0741296" ], "is_a": [ "HP:0001631", "HP:0006695" ], "is_obsolete": "", "replace_id": "" }, "HP:0010446": { "name": [ "tricuspid stenosis", "tricuspid stenosis" ], "alt_id": [], "def": "A narrowing of the orifice of the tricuspid valve of the heart.", "synonym": [], "xref": [ "EPCC:06.01.92", "ICD-10:Q22.4", "MSH:D014264", "SNOMEDCT_US:49915006", "UMLS:C0040963" ], "is_a": [ "HP:0031651" ], "is_obsolete": "", "replace_id": "" }, "HP:0010447": { "name": [ "anal fistula", "anal fistula" ], "alt_id": [], "def": "An abnormal connection between the epithelialised surface of the anal canal and the perianal skin.", "synonym": [ [ "fistula in ano", "fistula in ano" ] ], "xref": [ "MEDDRA:10002156 \"Anal fistula\"", "MSH:D012003", "SNOMEDCT_US:72779005", "UMLS:C0205929" ], "is_a": [ "HP:0004378", "HP:0100819" ], "is_obsolete": "", "replace_id": "" }, "HP:0010448": { "name": [ "colonic atresia", "colonic atresia" ], "alt_id": [], "def": "A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon.", "synonym": [ [ "atresia of the large intestine", "atresia of the large intestine" ], [ "large intestinal atresia", "large intestinal atresia" ] ], "xref": [ "MSH:C562562", "SNOMEDCT_US:37054000", "UMLS:C0266190" ], "is_a": [ "HP:0002250", "HP:0011100" ], "is_obsolete": "", "replace_id": "" }, "HP:0010450": { "name": [ "esophageal stenosis", "esophageal stenosis" ], "alt_id": [], "def": "An abnormal narrowing of the lumen of the esophagus.", "synonym": [ [ "narrowing of the esophagus", "narrowing of the esophagus" ], [ "narrowing of the oesophagus", "narrowing of the oesophagus" ] ], "xref": [ "MSH:D004940", "SNOMEDCT_US:63305008", "UMLS:C0014866" ], "is_a": [ "HP:0002031" ], "is_obsolete": "", "replace_id": "" }, "HP:0010451": { "name": [ "aplasia / hypoplasia of the spleen", "aplasia / hypoplasia of the spleen" ], "alt_id": [], "def": "Absence or underdevelopment of the spleen.", "synonym": [ [ "absent / small spleen", "absent / small spleen" ], [ "absent / underdeveloped spleen", "absent / underdevelop spleen" ] ], "xref": [ "UMLS:C4023823" ], "is_a": [ "HP:0025408" ], "is_obsolete": "", "replace_id": "" }, "HP:0010452": { "name": [ "ectopia of the spleen", "ectopia of the spleen" ], "alt_id": [], "def": "An abnormal (non-anatomic) location of the spleen.", "synonym": [ [ "abnormal spleen location", "abnormal spleen location" ], [ "ectopic spleen", "ectopic spleen" ] ], "xref": [ "SNOMEDCT_US:65146007", "UMLS:C0266632" ], "is_a": [ "HP:0025408" ], "is_obsolete": "", "replace_id": "" }, "HP:0010453": { "name": [ "pelvic bone asymmetry", "pelvic bone asymmetry" ], "alt_id": [], "def": "Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology.", "synonym": [ [ "asymmetric pelvis", "asymmetric pelvis" ], [ "pelvic asymmetry", "pelvic asymmetry" ] ], "xref": [ "UMLS:C4021263" ], "is_a": [ "HP:0040163" ], "is_obsolete": "", "replace_id": "" }, "HP:0010454": { "name": [ "acetabular spurs", "acetabular spur" ], "alt_id": [], "def": "The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.", "synonym": [], "xref": [ "UMLS:C3808270" ], "is_a": [ "HP:0003170" ], "is_obsolete": "", "replace_id": "" }, "HP:0010455": { "name": [ "steep acetabular roof", "steep acetabular roof" ], "alt_id": [], "def": "An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance.", "synonym": [], "xref": [ "UMLS:C3150931" ], "is_a": [ "HP:0003170" ], "is_obsolete": "", "replace_id": "" }, "HP:0010456": { "name": [ "abnormal greater sciatic notch morphology", "abnormal great sciatic notch morphology" ], "alt_id": [ "HP:0030266" ], "def": "An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.", "synonym": [ [ "abnormality of greater sciatic notch", "abnormality of great sciatic notch" ], [ "abnormality of the greater sacrosciatic notch", "abnormality of the great sacrosciatic notch" ], [ "abnormality of the sacroiliac notch", "abnormality of the sacroiliac notch" ] ], "xref": [ "UMLS:C4023822" ], "is_a": [ "HP:0002644" ], "is_obsolete": "", "replace_id": "" }, "HP:0010457": { "name": [ "obsolete widening of the sacrosciatic notch", "obsolete widening of the sacrosciatic notch" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0008798" }, "HP:0010458": { "name": [ "female pseudohermaphroditism", "female pseudohermaphroditism" ], "alt_id": [], "def": "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized.", "synonym": [], "xref": [ "MSH:D058489", "SNOMEDCT_US:8800006", "UMLS:C0238394" ], "is_a": [ "HP:0000055" ], "is_obsolete": "", "replace_id": "" }, "HP:0010459": { "name": [ "true hermaphroditism", "true hermaphroditism" ], "alt_id": [ "HP:0003242" ], "def": "The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.", "synonym": [ [ "testicular and ovarian tissue present", "testicular and ovarian tissue present" ] ], "xref": [ "MSH:D050090", "SNOMEDCT_US:18978002", "UMLS:C0266361" ], "is_a": [ "HP:0000062" ], "is_obsolete": "", "replace_id": "" }, "HP:0010460": { "name": [ "abnormality of the female genitalia", "abnormality of the female genitalia" ], "alt_id": [], "def": "Abnormality of the female genital system.", "synonym": [], "xref": [ "UMLS:C4023820" ], "is_a": [ "HP:0012243" ], "is_obsolete": "", "replace_id": "" }, "HP:0010461": { "name": [ "abnormality of the male genitalia", "abnormality of the male genitalia" ], "alt_id": [], "def": "Abnormality of the male genital system.", "synonym": [ [ "abnormal male genitals", "abnormal male genitals" ], [ "abnormality of the male genitalia", "abnormality of the male genitalia" ] ], "xref": [ "UMLS:C4023819" ], "is_a": [ "HP:0012243" ], "is_obsolete": "", "replace_id": "" }, "HP:0010462": { "name": [ "aplasia / hypoplasia of the ovary", "aplasia / hypoplasia of the ovary" ], "alt_id": [], "def": "Aplasia or developmental hypoplasia of the ovary.", "synonym": [ [ "absent / small ovary", "absent / small ovary" ], [ "absent / underdeveloped ovary", "absent / underdevelop ovary" ] ], "xref": [ "UMLS:C4023818" ], "is_a": [ "HP:0031065" ], "is_obsolete": "", "replace_id": "" }, "HP:0010463": { "name": [ "aplasia of the ovary", "aplasia of the ovary" ], "alt_id": [], "def": "Aplasia, that is failure to develop, of the ovary.", "synonym": [ [ "absent ovary", "absent ovary" ], [ "aplasia of the ovaries", "aplasia of the ovary" ], [ "bilateral absent ovaries", "bilateral absent ovary" ] ], "xref": [ "SNOMEDCT_US:12017008", "UMLS:C0266368" ], "is_a": [ "HP:0010462" ], "is_obsolete": "", "replace_id": "" }, "HP:0010464": { "name": [ "streak ovary", "streak ovary" ], "alt_id": [], "def": "A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.", "synonym": [], "xref": [ "SNOMEDCT_US:70550008", "UMLS:C0266371" ], "is_a": [ "HP:0008724" ], "is_obsolete": "", "replace_id": "" }, "HP:0010465": { "name": [ "precocious puberty in females", "precocious puberty in female" ], "alt_id": [], "def": "The onset of puberty before the age of 8 years in girls.", "synonym": [], "xref": [ "SNOMEDCT_US:19911007", "UMLS:C0271616" ], "is_a": [ "HP:0000826" ], "is_obsolete": "", "replace_id": "" }, "HP:0010468": { "name": [ "aplasia / hypoplasia of the testes", "aplasia / hypoplasia of the testis" ], "alt_id": [], "def": "Absence or underdevelopment of the testes.", "synonym": [ [ "absent / small testes", "absent / small testis" ], [ "absent / underdeveloped testes", "absent / underdevelop testis" ] ], "xref": [ "UMLS:C4023817" ], "is_a": [ "HP:0045058" ], "is_obsolete": "", "replace_id": "" }, "HP:0010469": { "name": [ "absent testis", "absent testis" ], "alt_id": [], "def": "Testis not palpable in the scrotum or inguinal canal.", "synonym": [ [ "absence of palpable testicules", "absence of palpable testicules" ], [ "absent testes", "absent testis" ], [ "aplasia of the testes", "aplasia of the testis" ] ], "xref": [ "UMLS:C4023816" ], "is_a": [ "HP:0010468" ], "is_obsolete": "", "replace_id": "" }, "HP:0010470": { "name": [ "supernumerary testes", "supernumerary testis" ], "alt_id": [], "def": "The presence of more than two testes.", "synonym": [ [ "extra testes", "extra testis" ], [ "polyorchidism", "polyorchidism" ] ], "xref": [ "SNOMEDCT_US:17471001", "UMLS:C0266430" ], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0010471": { "name": [ "oligosacchariduria", "oligosacchariduria" ], "alt_id": [], "def": "Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.", "synonym": [], "xref": [ "UMLS:C4023815" ], "is_a": [ "HP:0031979" ], "is_obsolete": "", "replace_id": "" }, "HP:0010472": { "name": [ "abnormal circulating porphyrin concentration", "abnormal circulate porphyrin concentration" ], "alt_id": [], "def": "An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes.", "synonym": [], "xref": [ "UMLS:C4023814" ], "is_a": [ "HP:0032180" ], "is_obsolete": "", "replace_id": "" }, "HP:0010473": { "name": [ "porphyrinuria", "porphyrinuria" ], "alt_id": [], "def": "Abnormally increased excretion of porphyrins in the urine.", "synonym": [], "xref": [ "SNOMEDCT_US:44574006", "UMLS:C0151861" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0010474": { "name": [ "bladder stones", "bladder stone" ], "alt_id": [], "def": "Buildups of minerals that form in the urinary bladder.", "synonym": [], "xref": [ "MSH:D001744", "SNOMEDCT_US:70650003", "UMLS:C0005683" ], "is_a": [ "HP:0025487" ], "is_obsolete": "", "replace_id": "" }, "HP:0010475": { "name": [ "cloacal exstrophy", "cloacal exstrophy" ], "alt_id": [], "def": "Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus.", "synonym": [], "xref": [ "SNOMEDCT_US:20815007", "UMLS:C0345217" ], "is_a": [ "HP:0012620", "HP:0100548" ], "is_obsolete": "", "replace_id": "" }, "HP:0010476": { "name": [ "aplasia / hypoplasia of the bladder", "aplasia / hypoplasia of the bladder" ], "alt_id": [], "def": "Absence or underdevelopment of the urinary bladder.", "synonym": [ [ "absent / small bladder", "absent / small bladder" ], [ "absent / underdeveloped bladder", "absent / underdevelop bladder" ] ], "xref": [ "UMLS:C4023813" ], "is_a": [ "HP:0025487" ], "is_obsolete": "", "replace_id": "" }, "HP:0010477": { "name": [ "aplasia of the bladder", "aplasia of the bladder" ], "alt_id": [], "def": "Aplasia (absence) of the urinary bladder.", "synonym": [ [ "absent bladder", "absent bladder" ] ], "xref": [ "UMLS:C4023812" ], "is_a": [ "HP:0010476" ], "is_obsolete": "", "replace_id": "" }, "HP:0010478": { "name": [ "abnormality of the urachus", "abnormality of the urachus" ], "alt_id": [], "def": "Abnormality of the urachus.", "synonym": [], "xref": [ "UMLS:C4023811" ], "is_a": [ "HP:0025487" ], "is_obsolete": "", "replace_id": "" }, "HP:0010479": { "name": [ "patent urachus", "patent urachus" ], "alt_id": [], "def": "Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus.", "synonym": [ [ "persistent urachus", "persistent urachus" ] ], "xref": [ "SNOMEDCT_US:398316009", "UMLS:C0266357" ], "is_a": [ "HP:0010478" ], "is_obsolete": "", "replace_id": "" }, "HP:0010480": { "name": [ "urethral fistula", "urethral fistula" ], "alt_id": [], "def": "The presence of an abnormal connection between the urethra and another organ or the skin.", "synonym": [], "xref": [ "SNOMEDCT_US:14981000", "UMLS:C0041970" ], "is_a": [ "HP:0000795", "HP:0100589" ], "is_obsolete": "", "replace_id": "" }, "HP:0010481": { "name": [ "urethral valve", "urethral valve" ], "alt_id": [], "def": "The presence of an abnormal membrane obstructing the urethra.", "synonym": [], "xref": [ "SNOMEDCT_US:297163001", "UMLS:C0266345" ], "is_a": [ "HP:0000796" ], "is_obsolete": "", "replace_id": "" }, "HP:0010482": { "name": [ "acromelia of the upper limbs", "acromelia of the upper limb" ], "alt_id": [], "def": "Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments.", "synonym": [], "xref": [ "UMLS:C4023810" ], "is_a": [ "HP:0010884" ], "is_obsolete": "", "replace_id": "" }, "HP:0010483": { "name": [ "amniotic constriction rings of arms", "amniotic constriction ring of arm" ], "alt_id": [], "def": "Amniotic constriction rings affecting the arms.", "synonym": [], "xref": [ "UMLS:C4023809" ], "is_a": [ "HP:0002817", "HP:0009775" ], "is_obsolete": "", "replace_id": "" }, "HP:0010484": { "name": [ "hypertrophy of the upper limb", "hypertrophy of the upper limb" ], "alt_id": [], "def": "Abnormal increase in size of the upper limbs (due to an increase of the size of cells).", "synonym": [ [ "increased size of upper limb", "increase size of upper limb" ] ], "xref": [ "SNOMEDCT_US:298745009", "UMLS:C0575518" ], "is_a": [ "HP:0002817" ], "is_obsolete": "", "replace_id": "" }, "HP:0010485": { "name": [ "hyperextensibility at elbow", "hyperextensibility at elbow" ], "alt_id": [], "def": "The ability of the elbow joint to move beyond its normal range of motion.", "synonym": [], "xref": [ "UMLS:C4023808" ], "is_a": [ "HP:0001382" ], "is_obsolete": "", "replace_id": "" }, "HP:0010486": { "name": [ "abnormality of the hypothenar eminence", "abnormality of the hypothenar eminence" ], "alt_id": [], "def": "An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger).", "synonym": [], "xref": [ "UMLS:C4023807" ], "is_a": [ "HP:0001421" ], "is_obsolete": "", "replace_id": "" }, "HP:0010487": { "name": [ "small hypothenar eminence", "small hypothenar eminence" ], "alt_id": [ "HP:0005721" ], "def": "Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.", "synonym": [ [ "hypoplasia of the hypothenar eminence", "hypoplasia of the hypothenar eminence" ], [ "hypothenar hypoplasia", "hypothenar hypoplasia" ] ], "xref": [ "UMLS:C1861395" ], "is_a": [ "HP:0010486" ], "is_obsolete": "", "replace_id": "" }, "HP:0010488": { "name": [ "aplasia / hypoplasia of the palmar creases", "aplasia / hypoplasia of the palmar crease" ], "alt_id": [], "def": "Absence or underdevelopment of the palmar creases.", "synonym": [ [ "absent / small palm crease", "absent / small palm crease" ], [ "absent / underdeveloped palm crease", "absent / underdevelop palm crease" ] ], "xref": [ "UMLS:C4023806" ], "is_a": [ "HP:0010490" ], "is_obsolete": "", "replace_id": "" }, "HP:0010489": { "name": [ "absent palmar crease", "absent palmar crease" ], "alt_id": [], "def": "The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).", "synonym": [ [ "absence of the palmar creases", "absence of the palmar crease" ], [ "absent palm lines", "absent palm line" ], [ "aplasia of the palmar creases", "aplasia of the palmar crease" ] ], "xref": [ "UMLS:C4021262" ], "is_a": [ "HP:0010488" ], "is_obsolete": "", "replace_id": "" }, "HP:0010490": { "name": [ "abnormality of the palmar creases", "abnormality of the palmar crease" ], "alt_id": [], "def": "An abnormality of the creases of the skin of palm of hand.", "synonym": [ [ "abnormality of the palm lines", "abnormality of the palm line" ] ], "xref": [ "SNOMEDCT_US:205557000", "UMLS:C0221199" ], "is_a": [ "HP:0001018" ], "is_obsolete": "", "replace_id": "" }, "HP:0010491": { "name": [ "digital constriction ring", "digital constriction ring" ], "alt_id": [], "def": "A narrow segment of significantly reduced circumference of a digit.", "synonym": [ [ "amniotic constriction rings of digits", "amniotic constriction ring of digit" ] ], "xref": [ "UMLS:C4021261" ], "is_a": [ "HP:0009775" ], "is_obsolete": "", "replace_id": "" }, "HP:0010492": { "name": [ "osseous finger syndactyly", "osseous finger syndactyly" ], "alt_id": [], "def": "Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as \\\"bony\\", "synonym": [ [ "osseous syndactyly of the fingers", "osseous syndactyly of the finger" ] ], "xref": [ "SNOMEDCT_US:2560006", "UMLS:C0158736" ], "is_a": [ "HP:0006101" ], "is_obsolete": "", "replace_id": "" }, "HP:0010493": { "name": [ "long metacarpals", "long metacarpal" ], "alt_id": [], "def": "An abnormally increased length of the metacarpal bones.", "synonym": [ [ "elongated long bone of hand", "elongate long bone of hand" ], [ "increased length of metacarpals", "increased length of metacarpal" ] ], "xref": [ "UMLS:C4021260" ], "is_a": [ "HP:0005916" ], "is_obsolete": "", "replace_id": "" }, "HP:0010494": { "name": [ "acromelia of the lower limbs", "acromelia of the low limb" ], "alt_id": [], "def": "Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments.", "synonym": [], "xref": [ "UMLS:C4023805" ], "is_a": [ "HP:0006493", "HP:0010884" ], "is_obsolete": "", "replace_id": "" }, "HP:0010495": { "name": [ "amniotic constriction rings of legs", "amniotic constriction ring of leg" ], "alt_id": [], "def": "Amniotic constriction rings affecting the legs.", "synonym": [], "xref": [ "UMLS:C4023804" ], "is_a": [ "HP:0002814", "HP:0009775" ], "is_obsolete": "", "replace_id": "" }, "HP:0010496": { "name": [ "hypertrophy of the lower limb", "hypertrophy of the low limb" ], "alt_id": [], "def": "Abnormal increase in size of the lower limbs (due to an increase of the size of cells).", "synonym": [], "xref": [ "UMLS:C4023803" ], "is_a": [ "HP:0002814" ], "is_obsolete": "", "replace_id": "" }, "HP:0010497": { "name": [ "sirenomelia", "sirenomelia" ], "alt_id": [], "def": "A developmental defect in which the legs are fused together.", "synonym": [ [ "sympodia", "sympodia" ] ], "xref": [ "MEDDRA:10049216 \"Sympodia\"", "MSH:D004480", "SNOMEDCT_US:253191000", "SNOMEDCT_US:67254002", "SNOMEDCT_US:91089008", "UMLS:C0037205" ], "is_a": [ "HP:0002814" ], "is_obsolete": "", "replace_id": "" }, "HP:0010498": { "name": [ "bipartite patella", "bipartite patella" ], "alt_id": [], "def": "A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.", "synonym": [], "xref": [ "SNOMEDCT_US:79214007", "UMLS:C0265666" ], "is_a": [ "HP:0003045" ], "is_obsolete": "", "replace_id": "" }, "HP:0010499": { "name": [ "patellar subluxation", "patellar subluxation" ], "alt_id": [], "def": "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella.", "synonym": [ [ "partial knee cap dislocation", "partial knee cap dislocation" ], [ "subluxation of patella", "subluxation of patella" ] ], "xref": [ "UMLS:C0857276" ], "is_a": [ "HP:0003045" ], "is_obsolete": "", "replace_id": "" }, "HP:0010500": { "name": [ "hyperextensibility of the knee", "hyperextensibility of the knee" ], "alt_id": [], "def": "The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh).", "synonym": [], "xref": [ "UMLS:C4023802" ], "is_a": [ "HP:0002815" ], "is_obsolete": "", "replace_id": "" }, "HP:0010501": { "name": [ "limitation of knee mobility", "limitation of knee mobility" ], "alt_id": [ "HP:0005030", "HP:0005192" ], "def": "An abnormal limitation of knee joint mobility.", "synonym": [ [ "limitation of knee mobility", "limitation of knee mobility" ], [ "limited knee movement", "limited knee movement" ] ], "xref": [ "UMLS:C4021259" ], "is_a": [ "HP:0001376", "HP:0002815" ], "is_obsolete": "", "replace_id": "" }, "HP:0010502": { "name": [ "fibular bowing", "fibular bowing" ], "alt_id": [], "def": "A bending or abnormal curvature of the fibula.", "synonym": [ [ "bowed calf bone", "bow calf bone" ] ], "xref": [ "UMLS:C4023801" ], "is_a": [ "HP:0002979", "HP:0002991" ], "is_obsolete": "", "replace_id": "" }, "HP:0010503": { "name": [ "fibular duplication", "fibular duplication" ], "alt_id": [], "def": "Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.", "synonym": [ [ "duplicated calf bone", "duplicate calf bone" ] ], "xref": [ "UMLS:C3276742" ], "is_a": [ "HP:0002991" ], "is_obsolete": "", "replace_id": "" }, "HP:0010504": { "name": [ "increased length of the tibia", "increased length of the tibia" ], "alt_id": [], "def": "An abnormal increase in the length of the tibia.", "synonym": [ [ "increased length of shankbone", "increased length of shankbone" ], [ "increased length of shinbone", "increased length of shinbone" ] ], "xref": [ "UMLS:C4021864" ], "is_a": [ "HP:0002992" ], "is_obsolete": "", "replace_id": "" }, "HP:0010505": { "name": [ "limitation of movement at ankles", "limitation of movement at ankle" ], "alt_id": [], "def": "An abnormal limitation of the mobility of the ankle joint.", "synonym": [], "xref": [ "UMLS:C4023800" ], "is_a": [ "HP:0001376", "HP:0003028" ], "is_obsolete": "", "replace_id": "" }, "HP:0010506": { "name": [ "abnormal plantar dermatoglyphics", "abnormal plantar dermatoglyphic" ], "alt_id": [], "def": "An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.", "synonym": [ [ "abnormal dermatoglyphics on feet", "abnormal dermatoglyphic on foot" ], [ "abnormal prints on feet", "abnormal print on foot" ] ], "xref": [ "UMLS:C4021258" ], "is_a": [ "HP:0007477", "HP:0100872" ], "is_obsolete": "", "replace_id": "" }, "HP:0010507": { "name": [ "foot asymmetry", "foot asymmetry" ], "alt_id": [], "def": "A difference in size or shape between the left and right foot.", "synonym": [], "xref": [ "UMLS:C4023799" ], "is_a": [ "HP:0001760" ], "is_obsolete": "", "replace_id": "" }, "HP:0010508": { "name": [ "metatarsus valgus", "metatarsus valgus" ], "alt_id": [], "def": "A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.", "synonym": [], "xref": [ "MSH:D000070591", "UMLS:C4082144" ], "is_a": [ "HP:0001832" ], "is_obsolete": "", "replace_id": "" }, "HP:0010509": { "name": [ "aplasia of the tarsal bones", "aplasia of the tarsal bone" ], "alt_id": [], "def": "Absence of the tarsal bones.", "synonym": [ [ "absent ankle bone", "absent ankle bone" ], [ "absent tarsals", "absent tarsal" ] ], "xref": [ "UMLS:C4021257" ], "is_a": [ "HP:0008363" ], "is_obsolete": "", "replace_id": "" }, "HP:0010510": { "name": [ "hypermobility of toe joints", "hypermobility of toe joint" ], "alt_id": [], "def": "An ability of the toe joints to move beyond their normal range of motion.", "synonym": [], "xref": [ "UMLS:C4023798" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0010511": { "name": [ "long toe", "long toe" ], "alt_id": [], "def": "Toes that appear disproportionately long compared to the foot.", "synonym": [ [ "increased length of toes", "increased length of toe" ], [ "long toe", "long toe" ], [ "long toes", "long toe" ] ], "xref": [ "UMLS:C3150613" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0010512": { "name": [ "adrenal calcification", "adrenal calcification" ], "alt_id": [], "def": "Calcification within the adrenal glands.", "synonym": [], "xref": [ "SNOMEDCT_US:12286000", "UMLS:C0271750" ], "is_a": [ "HP:0010766", "HP:0011732" ], "is_obsolete": "", "replace_id": "" }, "HP:0010513": { "name": [ "pituitary calcification", "pituitary calcification" ], "alt_id": [], "def": "Deposition of calcium salts in the pituitary gland.", "synonym": [], "xref": [ "UMLS:C4023797" ], "is_a": [ "HP:0002514", "HP:0011747" ], "is_obsolete": "", "replace_id": "" }, "HP:0010514": { "name": [ "hyperpituitarism", "hyperpituitarism" ], "alt_id": [], "def": "Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma.", "synonym": [], "xref": [ "MSH:D006964", "SNOMEDCT_US:10649000", "UMLS:C0020506" ], "is_a": [ "HP:0011747" ], "is_obsolete": "", "replace_id": "" }, "HP:0010515": { "name": [ "aplasia / hypoplasia of the thymus", "aplasia / hypoplasia of the thymus" ], "alt_id": [], "def": "Absence or underdevelopment of the thymus.", "synonym": [ [ "absent / small thymus", "absent / small thymus" ], [ "absent / underdeveloped thymus", "absent / underdevelop thymus" ], [ "thymic hypoplasia or aplasia", "thymic hypoplasia or aplasia" ] ], "xref": [ "UMLS:C3278004", "UMLS:C4023796" ], "is_a": [ "HP:0000777" ], "is_obsolete": "", "replace_id": "" }, "HP:0010516": { "name": [ "thymus hyperplasia", "thymus hyperplasia" ], "alt_id": [], "def": "Enlargement of the thymus.", "synonym": [ [ "enlarged thymus", "enlarge thymus" ], [ "thymic hyperplasia", "thymic hyperplasia" ] ], "xref": [ "MSH:D013952", "UMLS:C0040115" ], "is_a": [ "HP:0000777" ], "is_obsolete": "", "replace_id": "" }, "HP:0010517": { "name": [ "ectopic thymus tissue", "ectopic thymus tissue" ], "alt_id": [], "def": "The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend.", "synonym": [ [ "abnormal thymus position", "abnormal thymus position" ] ], "xref": [ "UMLS:C4023795" ], "is_a": [ "HP:0000777" ], "is_obsolete": "", "replace_id": "" }, "HP:0010518": { "name": [ "thyroglossal cyst", "thyroglossal cyst" ], "alt_id": [], "def": "An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct.", "synonym": [ [ "thyroglossal duct cyst", "thyroglossal duct cyst" ] ], "xref": [ "MSH:D013955", "SNOMEDCT_US:39462005", "UMLS:C0040124" ], "is_a": [ "HP:0011772" ], "is_obsolete": "", "replace_id": "" }, "HP:0010519": { "name": [ "increased fetal movement", "increase fetal movement" ], "alt_id": [], "def": "An abnormal increase in quantity or strength of fetal movements.", "synonym": [ [ "fetal hyperkinesia", "fetal hyperkinesia" ], [ "foetal hyperkinesia", "foetal hyperkinesia" ], [ "increased foetal movement", "increase foetal movement" ] ], "xref": [ "UMLS:C4021256" ], "is_a": [ "HP:0001557" ], "is_obsolete": "", "replace_id": "" }, "HP:0010521": { "name": [ "gait apraxia", "gait apraxia" ], "alt_id": [], "def": "Gait apraxia affecting the ability to make walking movements with the legs.", "synonym": [], "xref": [ "MSH:D020235", "SNOMEDCT_US:30767006", "UMLS:C1510417" ], "is_a": [ "HP:0001288", "HP:0002186" ], "is_obsolete": "", "replace_id": "" }, "HP:0010522": { "name": [ "dyslexia", "dyslexia" ], "alt_id": [ "HP:0006871" ], "def": "A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).", "synonym": [ [ "reading disability", "reading disability" ] ], "xref": [ "MSH:D004410", "SNOMEDCT_US:52824009", "SNOMEDCT_US:59770006", "SNOMEDCT_US:9236007", "UMLS:C0476254" ], "is_a": [ "HP:0001328" ], "is_obsolete": "", "replace_id": "" }, "HP:0010523": { "name": [ "alexia", "alexia" ], "alt_id": [], "def": "An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.", "synonym": [ [ "text blindness", "text blindness" ], [ "word blindness", "word blindness" ] ], "xref": [ "MSH:D004410", "SNOMEDCT_US:9236007", "UMLS:C0002018" ], "is_a": [ "HP:0002167" ], "is_obsolete": "", "replace_id": "" }, "HP:0010524": { "name": [ "agnosia", "agnosia" ], "alt_id": [], "def": "Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions.", "synonym": [], "xref": [ "MSH:D000377", "SNOMEDCT_US:42341009", "UMLS:C0001816" ], "is_a": [ "HP:0011446" ], "is_obsolete": "", "replace_id": "" }, "HP:0010525": { "name": [ "finger agnosia", "finger agnosia" ], "alt_id": [], "def": "An inability or difficulty differentiating among the fingers of either hand as well as the hands of others.", "synonym": [], "xref": [ "MSH:D000377", "SNOMEDCT_US:3449007", "UMLS:C0234509" ], "is_a": [ "HP:0010524" ], "is_obsolete": "", "replace_id": "" }, "HP:0010526": { "name": [ "dysgraphia", "dysgraphia" ], "alt_id": [], "def": "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.", "synonym": [], "xref": [ "MSH:D000381", "SNOMEDCT_US:88278002", "UMLS:C0234144" ], "is_a": [ "HP:0002167" ], "is_obsolete": "", "replace_id": "" }, "HP:0010527": { "name": [ "astereognosia", "astereognosia" ], "alt_id": [], "def": "Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit.", "synonym": [ [ "astereognosis", "astereognosis" ], [ "somatosensory agnosia", "somatosensory agnosia" ] ], "xref": [ "MSH:D000377", "SNOMEDCT_US:25094008", "UMLS:C0234505" ], "is_a": [ "HP:0010524", "HP:0011730" ], "is_obsolete": "", "replace_id": "" }, "HP:0010528": { "name": [ "prosopagnosia", "prosopagnosia" ], "alt_id": [], "def": "Inability to recognize faces of familiar persons.", "synonym": [ [ "face blindness", "face blindness" ], [ "facial agnosia", "facial agnosia" ] ], "xref": [ "MSH:D020238", "SNOMEDCT_US:18358003", "UMLS:C0234512" ], "is_a": [ "HP:0010524" ], "is_obsolete": "", "replace_id": "" }, "HP:0010529": { "name": [ "echolalia", "echolalia" ], "alt_id": [], "def": "The tendency to repeat vocalizations made by another person.", "synonym": [ [ "echoing another person 's speech", "echo another person 's speech" ], [ "echologia", "echologia" ], [ "echophrasia", "echophrasia" ], [ "repeated speech", "repeat speech" ] ], "xref": [ "MSH:D004454", "SNOMEDCT_US:64712007", "UMLS:C0013528", "UMLS:C4280380" ], "is_a": [ "HP:0000708", "HP:0002167" ], "is_obsolete": "", "replace_id": "" }, "HP:0010530": { "name": [ "palatal myoclonus", "palatal myoclonus" ], "alt_id": [], "def": "Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate.", "synonym": [], "xref": [ "MSH:D009207", "SNOMEDCT_US:9366002", "UMLS:C0030214" ], "is_a": [ "HP:0001336" ], "is_obsolete": "", "replace_id": "" }, "HP:0010531": { "name": [ "spinal myoclonus", "spinal myoclonus" ], "alt_id": [], "def": "Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.", "synonym": [], "xref": [ "SNOMEDCT_US:698836007", "UMLS:C3697670" ], "is_a": [ "HP:0001336" ], "is_obsolete": "", "replace_id": "" }, "HP:0010532": { "name": [ "paroxysmal vertigo", "paroxysmal vertigo" ], "alt_id": [], "def": "Paroxysmal episodes of vertigo.", "synonym": [], "xref": [ "MSH:D014717", "SNOMEDCT_US:103290003", "UMLS:C0522357" ], "is_a": [ "HP:0002321" ], "is_obsolete": "", "replace_id": "" }, "HP:0010533": { "name": [ "spasmus nutans", "spasmus nutans" ], "alt_id": [], "def": "The combination of pendular nystagmus, head nodding, and torticollis.", "synonym": [], "xref": [ "MSH:D013036", "SNOMEDCT_US:18191000", "UMLS:C0546878" ], "is_a": [ "HP:0012043" ], "is_obsolete": "", "replace_id": "" }, "HP:0010534": { "name": [ "transient global amnesia", "transient global amnesia" ], "alt_id": [], "def": "A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information.", "synonym": [], "xref": [ "MSH:D020236", "SNOMEDCT_US:230736007", "UMLS:C0338591" ], "is_a": [ "HP:0002354" ], "is_obsolete": "", "replace_id": "" }, "HP:0010535": { "name": [ "sleep apnea", "sleep apnea" ], "alt_id": [], "def": "An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.", "synonym": [ [ "pauses in breathing while sleeping", "pause in breathe while sleep" ], [ "sleep apnoea", "sleep apnoea" ] ], "xref": [ "MSH:D012891", "SNOMEDCT_US:73430006", "UMLS:C0037315" ], "is_a": [ "HP:0002104", "HP:0002360" ], "is_obsolete": "", "replace_id": "" }, "HP:0010536": { "name": [ "central sleep apnea", "central sleep apnea" ], "alt_id": [], "def": "Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles.", "synonym": [ [ "central sleep apnoea", "central sleep apnoea" ] ], "xref": [ "MSH:D020182", "UMLS:C0520680" ], "is_a": [ "HP:0010535" ], "is_obsolete": "", "replace_id": "" }, "HP:0010537": { "name": [ "wide cranial sutures", "wide cranial suture" ], "alt_id": [], "def": "An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).", "synonym": [ [ "broad cranial sutures", "broad cranial suture" ], [ "large cranial suture", "large cranial suture" ], [ "open cranial sutures", "open cranial suture" ], [ "persistent open cranial sutures", "persistent open cranial suture" ], [ "widened cranial sutures", "widen cranial suture" ] ], "xref": [ "SNOMEDCT_US:268855009", "UMLS:C0410935" ], "is_a": [ "HP:0011329" ], "is_obsolete": "", "replace_id": "" }, "HP:0010538": { "name": [ "small sella turcica", "small sella turcica" ], "alt_id": [], "def": "An abnormally small sella turcica.", "synonym": [ [ "hypoplasia of hypophseal fossa", "hypoplasia of hypophseal fossa" ], [ "hypoplasia of pituitary fossa", "hypoplasia of pituitary fossa" ], [ "hypoplasia of sella turcica", "hypoplasia of sella turcica" ], [ "small hypophyseal fossa", "small hypophyseal fossa" ], [ "small pituitary fossa", "small pituitary fossa" ] ], "xref": [ "UMLS:C4023794", "UMLS:C4072875", "UMLS:C4072876" ], "is_a": [ "HP:0002679" ], "is_obsolete": "", "replace_id": "" }, "HP:0010539": { "name": [ "thin calvarium", "thin calvarium" ], "alt_id": [], "def": "The presence of an abnormally thin calvarium.", "synonym": [ [ "thin cranial bone", "thin cranial bone" ], [ "thin skull bone", "thin skull bone" ] ], "xref": [ "UMLS:C1856231", "UMLS:C4280379" ], "is_a": [ "HP:0002683" ], "is_obsolete": "", "replace_id": "" }, "HP:0010540": { "name": [ "advanced pneumatization of cranial sinuses", "advanced pneumatization of cranial sinus" ], "alt_id": [], "def": "A degree of pneumatization that is increased compared to age-related norms.", "synonym": [], "xref": [ "UMLS:C4023793" ], "is_a": [ "HP:0000245" ], "is_obsolete": "", "replace_id": "" }, "HP:0010541": { "name": [ "cutis gyrata of scalp", "cutis gyrata of scalp" ], "alt_id": [], "def": "The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.", "synonym": [ [ "cutis verticis gyrata", "cutis verticis gyrata" ], [ "furrows in thickened skin on top of scalp", "furrow in thickened skin on top of scalp" ], [ "scalp folds", "scalp fold" ], [ "scalp furrows", "scalp furrow" ], [ "thickened folds on top of scalp", "thicken fold on top of scalp" ], [ "thickening of the scalp", "thickening of the scalp" ] ], "xref": [ "SNOMEDCT_US:51603000", "UMLS:C0263417", "UMLS:C4072877", "UMLS:C4280378" ], "is_a": [ "HP:0001965", "HP:0011356" ], "is_obsolete": "", "replace_id": "" }, "HP:0010542": { "name": [ "vestibular nystagmus", "vestibular nystagmus" ], "alt_id": [], "def": "Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components.", "synonym": [], "xref": [ "SNOMEDCT_US:46888001", "UMLS:C0155379" ], "is_a": [ "HP:0000639", "HP:0009591" ], "is_obsolete": "", "replace_id": "" }, "HP:0010543": { "name": [ "opsoclonus", "opsoclonus" ], "alt_id": [], "def": "Bursts of large-amplitude multidirectional saccades without intersaccadic interval", "synonym": [], "xref": [ "MSH:D015835", "SNOMEDCT_US:194177006", "UMLS:C0242567" ], "is_a": [ "HP:0012547", "HP:0032104" ], "is_obsolete": "", "replace_id": "" }, "HP:0010544": { "name": [ "vertical nystagmus", "vertical nystagmus" ], "alt_id": [], "def": "Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.", "synonym": [], "xref": [ "MSH:D009759", "SNOMEDCT_US:111533001", "UMLS:C0271386" ], "is_a": [ "HP:0000639" ], "is_obsolete": "", "replace_id": "" }, "HP:0010545": { "name": [ "downbeat nystagmus", "downbeat nystagmus" ], "alt_id": [], "def": "Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.", "synonym": [], "xref": [ "SNOMEDCT_US:307676006", "UMLS:C0585544" ], "is_a": [ "HP:0010544" ], "is_obsolete": "", "replace_id": "" }, "HP:0010546": { "name": [ "muscle fibrillation", "muscle fibrillation" ], "alt_id": [], "def": "Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.", "synonym": [ [ "twitching", "twitch" ] ], "xref": [ "SNOMEDCT_US:41405005", "UMLS:C0231531" ], "is_a": [ "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0010547": { "name": [ "muscle flaccidity", "muscle flaccidity" ], "alt_id": [], "def": "A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.", "synonym": [], "xref": [ "MSH:D009123", "SNOMEDCT_US:186611004", "SNOMEDCT_US:397488002", "UMLS:C0026825" ], "is_a": [ "HP:0001324" ], "is_obsolete": "", "replace_id": "" }, "HP:0010548": { "name": [ "percussion myotonia", "percussion myotonia" ], "alt_id": [ "HP:0004304" ], "def": "A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).", "synonym": [ [ "transient swelling of muscle induced by percussion", "transient swelling of muscle induce by percussion" ] ], "xref": [ "MSH:D009222", "UMLS:C0751359" ], "is_a": [ "HP:0002486" ], "is_obsolete": "", "replace_id": "" }, "HP:0010549": { "name": [ "weakness due to upper motor neuron dysfunction", "weakness due to upper motor neuron dysfunction" ], "alt_id": [], "def": "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.", "synonym": [ [ "paralysis due to lesions of the principle motor tracts", "paralysis due to lesion of the principle motor tract" ] ], "xref": [ "UMLS:C4021255" ], "is_a": [ "HP:0002493" ], "is_obsolete": "", "replace_id": "" }, "HP:0010550": { "name": [ "paraplegia", "paraplegia" ], "alt_id": [], "def": "Severe or complete weakness of both lower extremities with sparing of the upper extremities.", "synonym": [ [ "leg paralysis", "leg paralysis" ] ], "xref": [ "MSH:D010264", "SNOMEDCT_US:60389000", "UMLS:C0030486" ], "is_a": [ "HP:0010551" ], "is_obsolete": "", "replace_id": "" }, "HP:0010551": { "name": [ "paraplegia / paraparesis", "paraplegia / paraparesis" ], "alt_id": [], "def": "Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.", "synonym": [], "xref": [ "UMLS:C4023792" ], "is_a": [ "HP:0010549" ], "is_obsolete": "", "replace_id": "" }, "HP:0010553": { "name": [ "oculogyric crisis", "oculogyric crisis" ], "alt_id": [], "def": "An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.", "synonym": [], "xref": [ "SNOMEDCT_US:5332004", "UMLS:C0085637" ], "is_a": [ "HP:0001332" ], "is_obsolete": "", "replace_id": "" }, "HP:0010554": { "name": [ "cutaneous finger syndactyly", "cutaneous finger syndactyly" ], "alt_id": [ "HP:0001214", "HP:0005637", "HP:0006054", "HP:0006220" ], "def": "A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.", "synonym": [ [ "cutaneous syndactyly of fingers", "cutaneous syndactyly of finger" ], [ "cutaneous syndactyly of hands", "cutaneous syndactyly of hand" ], [ "webbed fingers", "webbed finger" ], [ "webbed skin of fingers", "webbed skin of finger" ] ], "xref": [ "UMLS:C4021254" ], "is_a": [ "HP:0006101", "HP:0012725" ], "is_obsolete": "", "replace_id": "" }, "HP:0010557": { "name": [ "overlapping fingers", "overlap finger" ], "alt_id": [], "def": "A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.", "synonym": [], "xref": [ "UMLS:C1446712" ], "is_a": [ "HP:0004097", "HP:0005922" ], "is_obsolete": "", "replace_id": "" }, "HP:0010558": { "name": [ "abnormality of the clivus", "abnormality of the clivus" ], "alt_id": [], "def": "An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum.", "synonym": [], "xref": [ "UMLS:C4023791" ], "is_a": [ "HP:0000932" ], "is_obsolete": "", "replace_id": "" }, "HP:0010559": { "name": [ "vertical clivus", "vertical clivus" ], "alt_id": [], "def": "An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum).", "synonym": [], "xref": [ "UMLS:C1844702" ], "is_a": [ "HP:0010558" ], "is_obsolete": "", "replace_id": "" }, "HP:0010560": { "name": [ "undulate clavicles", "undulate clavicle" ], "alt_id": [], "def": "An abnormally wavy surface or edge of the clavicles.", "synonym": [ [ "wavy clavicles", "wavy clavicle" ], [ "wavy collarbone", "wavy collarbone" ] ], "xref": [ "UMLS:C4021253" ], "is_a": [ "HP:0000889" ], "is_obsolete": "", "replace_id": "" }, "HP:0010561": { "name": [ "undulate ribs", "undulate rib" ], "alt_id": [], "def": "An abnormally wavy surface or edge of the ribs.", "synonym": [ [ "wavy ribs", "wavy rib" ] ], "xref": [ "UMLS:C1969185" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0010562": { "name": [ "keloids", "keloid" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MEDDRA:10023330 \"Keloid scar\"", "MSH:D007627", "SNOMEDCT_US:33659008", "SNOMEDCT_US:58405006", "UMLS:C0022548" ], "is_a": [ "HP:0000987" ], "is_obsolete": "", "replace_id": "" }, "HP:0010564": { "name": [ "bifid epiglottis", "bifid epiglottis" ], "alt_id": [], "def": "A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation.", "synonym": [], "xref": [ "SNOMEDCT_US:232412004", "UMLS:C0339864" ], "is_a": [ "HP:0005483" ], "is_obsolete": "", "replace_id": "" }, "HP:0010565": { "name": [ "aplasia / hypoplasia of the epiglottis", "aplasia / hypoplasia of the epiglottis" ], "alt_id": [], "def": "This term applies if the Epiglottis is absent or hypoplastic.", "synonym": [], "xref": [ "UMLS:C4023790" ], "is_a": [ "HP:0005483" ], "is_obsolete": "", "replace_id": "" }, "HP:0010566": { "name": [ "hamartoma", "hamartoma" ], "alt_id": [], "def": "A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.", "synonym": [], "xref": [ "MSH:D006222", "SNOMEDCT_US:400006008", "SNOMEDCT_US:51398009", "UMLS:C0018552" ], "is_a": [ "HP:0011792" ], "is_obsolete": "", "replace_id": "" }, "HP:0010567": { "name": [ "y - shaped metatarsals", "y - shape metatarsal" ], "alt_id": [], "def": "Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly.", "synonym": [ [ "y - shaped long bone of foot", "y - shape long bone of foot" ] ], "xref": [ "UMLS:C4023789" ], "is_a": [ "HP:0001832" ], "is_obsolete": "", "replace_id": "" }, "HP:0010568": { "name": [ "hamartoma of the eye", "hamartoma of the eye" ], "alt_id": [], "def": "A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.", "synonym": [], "xref": [ "UMLS:C4023788" ], "is_a": [ "HP:0030670", "HP:0100012" ], "is_obsolete": "", "replace_id": "" }, "HP:0010569": { "name": [ "elevated 7 - dehydrocholesterol", "elevate 7 - dehydrocholesterol" ], "alt_id": [], "def": "Elevated 7-dehydrocholesterol levels.", "synonym": [ [ "elevated levels of cholesta - 5,7 - dien - 3beta - ol", "elevated level of cholesta - 5,7 - dien - 3beta - ol" ] ], "xref": [ "UMLS:C1849185" ], "is_a": [ "HP:0003107" ], "is_obsolete": "", "replace_id": "" }, "HP:0010570": { "name": [ "low maternal serum alpha - fetoprotein", "low maternal serum alpha - fetoprotein" ], "alt_id": [], "def": "An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.", "synonym": [ [ "low maternal serum alpha - fetoprotein", "low maternal serum alpha - fetoprotein" ] ], "xref": [ "UMLS:C4023787" ], "is_a": [ "HP:0011436" ], "is_obsolete": "", "replace_id": "" }, "HP:0010571": { "name": [ "elevated levels of phytanic acid", "elevated level of phytanic acid" ], "alt_id": [], "def": "An abnormal elevation of phytanic acid.", "synonym": [ [ "elevated levels of phytanic acid", "elevated level of phytanic acid" ] ], "xref": [ "UMLS:C4023786" ], "is_a": [ "HP:0010965" ], "is_obsolete": "", "replace_id": "" }, "HP:0010574": { "name": [ "abnormality of the epiphysis of the femoral head", "abnormality of the epiphysis of the femoral head" ], "alt_id": [ "HP:0010589" ], "def": "Any abnormality of the proximal epiphysis of the femur.", "synonym": [ [ "abnormality of the end part of the innermost thighbone", "abnormality of the end part of the innermost thighbone" ], [ "abnormality of the proximal femoral epiphysis", "abnormality of the proximal femoral epiphysis" ] ], "xref": [ "UMLS:C4021252" ], "is_a": [ "HP:0003368", "HP:0006499" ], "is_obsolete": "", "replace_id": "" }, "HP:0010575": { "name": [ "dysplasia of the femoral head", "dysplasia of the femoral head" ], "alt_id": [], "def": "The presence of developmental dysplasia of the femoral head.", "synonym": [ [ "abnormality of femoral head development", "abnormality of femoral head development" ], [ "dysplastic femoral head", "dysplastic femoral head" ] ], "xref": [ "UMLS:C4021251", "UMLS:C4280377" ], "is_a": [ "HP:0003368" ], "is_obsolete": "", "replace_id": "" }, "HP:0010576": { "name": [ "intracranial cystic lesion", "intracranial cystic lesion" ], "alt_id": [], "def": "A cystic lesion originating within the brain.", "synonym": [ [ "cerebral cystic malformation", "cerebral cystic malformation" ] ], "xref": [ "UMLS:C4021250" ], "is_a": [ "HP:0030724" ], "is_obsolete": "", "replace_id": "" }, "HP:0010577": { "name": [ "absent epiphyses", "absent epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "absent end part of bone", "absent end part of bone" ] ], "xref": [ "UMLS:C4021862" ], "is_a": [ "HP:0005930" ], "is_obsolete": "", "replace_id": "" }, "HP:0010578": { "name": [ "bracket epiphyses", "bracket epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "bracket shaped end part of long bone", "bracket shape end part of long bone" ] ], "xref": [ "UMLS:C4023785" ], "is_a": [ "HP:0005930" ], "is_obsolete": "", "replace_id": "" }, "HP:0010579": { "name": [ "cone - shaped epiphysis", "cone - shaped epiphysis" ], "alt_id": [ "HP:0000937", "HP:0006078" ], "def": "Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.", "synonym": [ [ "cone - shaped end part of bone", "cone - shaped end part of bone" ], [ "cone - shaped epiphyses", "cone - shaped epiphysis" ] ], "xref": [ "UMLS:C1865037" ], "is_a": [ "HP:0005930" ], "is_obsolete": "", "replace_id": "" }, "HP:0010580": { "name": [ "enlarged epiphyses", "enlarge epiphysis" ], "alt_id": [ "HP:0003018", "HP:0003055", "HP:0005082" ], "def": "Increased size of epiphyses.", "synonym": [ [ "large end part of bone", "large end part of bone" ], [ "large epiphyses", "large epiphysis" ], [ "widened , distorted epiphyses", "widen , distorted epiphysis" ] ], "xref": [ "UMLS:C1833328" ], "is_a": [ "HP:0005930" ], "is_obsolete": "", "replace_id": "" }, "HP:0010582": { "name": [ "irregular epiphyses", "irregular epiphysis" ], "alt_id": [ "HP:0002765", "HP:0003039", "HP:0005007", "HP:0005023", "HP:0005749", "HP:0010581" ], "def": "An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.", "synonym": [ [ "irregular end part of long bone", "irregular end part of long bone" ] ], "xref": [ "UMLS:C1846449" ], "is_a": [ "HP:0005930" ], "is_obsolete": "", "replace_id": "" }, "HP:0010583": { "name": [ "ivory epiphyses", "ivory epiphysis" ], "alt_id": [], "def": "Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.", "synonym": [ [ "epiphyseal sclerosis", "epiphyseal sclerosis" ], [ "increased bone density in end part of bone", "increase bone density in end part of bone" ] ], "xref": [ "UMLS:C1856911" ], "is_a": [ "HP:0005930" ], "is_obsolete": "", "replace_id": "" }, "HP:0010584": { "name": [ "pseudoepiphyses", "pseudoepiphyses" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1841685" ], "is_a": [ "HP:0005930" ], "is_obsolete": "", "replace_id": "" }, "HP:0010585": { "name": [ "small epiphyses", "small epiphysis" ], "alt_id": [ "HP:0005730" ], "def": "Reduction in the size or volume of epiphyses.", "synonym": [ [ "small end part of bone", "small end part of bone" ] ], "xref": [ "UMLS:C1846803" ], "is_a": [ "HP:0005930" ], "is_obsolete": "", "replace_id": "" }, "HP:0010587": { "name": [ "triangular epiphyses", "triangular epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of bone", "triangular end part of bone" ] ], "xref": [ "UMLS:C4023784" ], "is_a": [ "HP:0005930" ], "is_obsolete": "", "replace_id": "" }, "HP:0010588": { "name": [ "premature epimetaphyseal fusion", "premature epimetaphyseal fusion" ], "alt_id": [], "def": "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.", "synonym": [ [ "premature closure of epiphyses", "premature closure of epiphysis" ] ], "xref": [ "SNOMEDCT_US:89493005", "UMLS:C0151628" ], "is_a": [ "HP:0005930" ], "is_obsolete": "", "replace_id": "" }, "HP:0010590": { "name": [ "abnormality of the distal femoral epiphysis", "abnormality of the distal femoral epiphysis" ], "alt_id": [], "def": "Any abnormality of the distal epiphysis of the femur.", "synonym": [ [ "abnormality of the end part of the outermost thighbone", "abnormality of the end part of the outermost thighbone" ] ], "xref": [ "UMLS:C4023783" ], "is_a": [ "HP:0006499" ], "is_obsolete": "", "replace_id": "" }, "HP:0010591": { "name": [ "abnormality of the proximal tibial epiphysis", "abnormality of the proximal tibial epiphysis" ], "alt_id": [], "def": "Any abnormality of the proximal epiphysis of the tibia.", "synonym": [ [ "abnormality of the end part of innermost shankbone", "abnormality of the end part of innermost shankbone" ], [ "abnormality of the end part of innermost shinbone", "abnormality of the end part of innermost shinbone" ] ], "xref": [ "UMLS:C4023782" ], "is_a": [ "HP:0006508" ], "is_obsolete": "", "replace_id": "" }, "HP:0010592": { "name": [ "abnormality of the distal tibial epiphysis", "abnormality of the distal tibial epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the end part of outermost shankbone", "abnormality of the end part of outermost shankbone" ], [ "abnormality of the end part of outermost shinbone", "abnormality of the end part of outermost shinbone" ] ], "xref": [ "UMLS:C4023781" ], "is_a": [ "HP:0006508" ], "is_obsolete": "", "replace_id": "" }, "HP:0010593": { "name": [ "abnormality of fibular epiphyses", "abnormality of fibular epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the end part of the calf bone", "abnormality of the end part of the calf bone" ] ], "xref": [ "UMLS:C4023780" ], "is_a": [ "HP:0006500" ], "is_obsolete": "", "replace_id": "" }, "HP:0010594": { "name": [ "abnormality of the proximal fibular epiphysis", "abnormality of the proximal fibular epiphysis" ], "alt_id": [], "def": "Any abnormality of the proximal epiphysis of the fibula.", "synonym": [ [ "abnormality of the innermost end part of calf bone", "abnormality of the innermost end part of calf bone" ] ], "xref": [ "UMLS:C4023779" ], "is_a": [ "HP:0010593" ], "is_obsolete": "", "replace_id": "" }, "HP:0010595": { "name": [ "abnormality of the distal fibular epiphysis", "abnormality of the distal fibular epiphysis" ], "alt_id": [], "def": "Any abnormality of the distal epiphysis of the fibula.", "synonym": [ [ "abnormality of the outermost end part of calf bone", "abnormality of the outermost end part of calf bone" ] ], "xref": [ "UMLS:C4023778" ], "is_a": [ "HP:0010593" ], "is_obsolete": "", "replace_id": "" }, "HP:0010596": { "name": [ "abnormality of the proximal radial epiphysis", "abnormality of the proximal radial epiphysis" ], "alt_id": [], "def": "Any abnormality of the proximal epiphysis of the radius.", "synonym": [], "xref": [ "UMLS:C4023777" ], "is_a": [ "HP:0003946", "HP:0003999" ], "is_obsolete": "", "replace_id": "" }, "HP:0010597": { "name": [ "abnormality of the distal radial epiphysis", "abnormality of the distal radial epiphysis" ], "alt_id": [], "def": "Any abnormality of the distal epiphysis of the radius.", "synonym": [], "xref": [ "UMLS:C4023776" ], "is_a": [ "HP:0003999" ], "is_obsolete": "", "replace_id": "" }, "HP:0010598": { "name": [ "abnormality of the proximal humeral epiphysis", "abnormality of the proximal humeral epiphysis" ], "alt_id": [], "def": "Any abnormality of the proximal epiphysis of the humerus.", "synonym": [ [ "abnormality of the end part of the innermost long bone in upper arm", "abnormality of the end part of the innermost long bone in upper arm" ] ], "xref": [ "UMLS:C4023775" ], "is_a": [ "HP:0003891" ], "is_obsolete": "", "replace_id": "" }, "HP:0010599": { "name": [ "abnormality of the distal humeral epiphysis", "abnormality of the distal humeral epiphysis" ], "alt_id": [], "def": "Any abnormality of the distal epiphysis of the humerus.", "synonym": [ [ "abnormality of the end part of the outermost long bone in upper arm", "abnormality of the end part of the outermost long bone in upper arm" ] ], "xref": [ "UMLS:C4023774" ], "is_a": [ "HP:0003891", "HP:0003946" ], "is_obsolete": "", "replace_id": "" }, "HP:0010600": { "name": [ "abnormality of the distal ulnar epiphysis", "abnormality of the distal ulnar epiphysis" ], "alt_id": [], "def": "Any abnormality of the distal epiphysis of the ulna.", "synonym": [], "xref": [ "UMLS:C4023773" ], "is_a": [ "HP:0004037" ], "is_obsolete": "", "replace_id": "" }, "HP:0010601": { "name": [ "abnormality of the proximal ulnar epiphysis", "abnormality of the proximal ulnar epiphysis" ], "alt_id": [], "def": "Any abnormality of the proximal epiphysis of the ulna.", "synonym": [], "xref": [ "UMLS:C4023772" ], "is_a": [ "HP:0003946", "HP:0004037" ], "is_obsolete": "", "replace_id": "" }, "HP:0010602": { "name": [ "type 2 muscle fiber predominance", "type 2 muscle fiber predominance" ], "alt_id": [], "def": "An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).", "synonym": [ [ "type 2 muscle fibre predominance", "type 2 muscle fibre predominance" ], [ "type ii muscle fiber predominance", "type ii muscle fiber predominance" ], [ "type ii muscle fibre predominance", "type ii muscle fibre predominance" ] ], "xref": [ "UMLS:C3277187" ], "is_a": [ "HP:0033684" ], "is_obsolete": "", "replace_id": "" }, "HP:0010603": { "name": [ "odontogenic keratocysts of the jaw", "odontogenic keratocysts of the jaw" ], "alt_id": [], "def": "A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour.", "synonym": [ [ "keratocystic odontogenic tumor", "keratocystic odontogenic tumor" ], [ "keratocystic odontogenic tumour", "keratocystic odontogenic tumour" ], [ "keratocysts of the jaw", "keratocysts of the jaw" ] ], "xref": [ "UMLS:C1708604" ], "is_a": [ "HP:0100612" ], "is_obsolete": "", "replace_id": "" }, "HP:0010604": { "name": [ "cyst of the eyelid", "cyst of the eyelid" ], "alt_id": [], "def": "", "synonym": [ [ "cyst of the eyelid", "cyst of the eyelid" ], [ "eyelid bump", "eyelid bump" ], [ "eyelid mass", "eyelid mass" ], [ "lesion of the eyelid", "lesion of the eyelid" ] ], "xref": [ "SNOMEDCT_US:248514008", "SNOMEDCT_US:301913002", "SNOMEDCT_US:46210008", "UMLS:C0155218", "UMLS:C0424844", "UMLS:C0578590" ], "is_a": [ "HP:0010732", "HP:0200040" ], "is_obsolete": "", "replace_id": "" }, "HP:0010605": { "name": [ "chalazion", "chalazion" ], "alt_id": [], "def": "A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes.", "synonym": [ [ "meibomian gland lipogranuloma", "meibomian gland lipogranuloma" ] ], "xref": [ "MSH:D017043", "SNOMEDCT_US:1482004", "UMLS:C0007933" ], "is_a": [ "HP:0010604" ], "is_obsolete": "", "replace_id": "" }, "HP:0010606": { "name": [ "hordeolum", "hordeolum" ], "alt_id": [], "def": "An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling.", "synonym": [ [ "red bump on eyelid", "red bump on eyelid" ], [ "stye of eyelid", "stye of eyelid" ] ], "xref": [ "MSH:D006726", "SNOMEDCT_US:1489008", "SNOMEDCT_US:397513003", "UMLS:C0019917", "UMLS:C4280376" ], "is_a": [ "HP:0010732" ], "is_obsolete": "", "replace_id": "" }, "HP:0010607": { "name": [ "hordeolum externum", "hordeolum externum" ], "alt_id": [], "def": "Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling.", "synonym": [], "xref": [ "SNOMEDCT_US:1489008", "UMLS:C0019919" ], "is_a": [ "HP:0010606" ], "is_obsolete": "", "replace_id": "" }, "HP:0010608": { "name": [ "hordeolum internum", "hordeolum internum" ], "alt_id": [], "def": "Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling.", "synonym": [ [ "red bump on inner eyelid", "red bump on inner eyelid" ], [ "stye of inner eyelid", "stye of inner eyelid" ] ], "xref": [ "SNOMEDCT_US:414521009", "UMLS:C0085690", "UMLS:C4280375" ], "is_a": [ "HP:0010606" ], "is_obsolete": "", "replace_id": "" }, "HP:0010609": { "name": [ "skin tags", "skin tag" ], "alt_id": [], "def": "Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.", "synonym": [ [ "acrochorda", "acrochorda" ] ], "xref": [ "SNOMEDCT_US:201091002", "SNOMEDCT_US:31069005", "SNOMEDCT_US:80801001", "UMLS:C0037293" ], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0010610": { "name": [ "palmar pits", "palmar pit" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:247449001", "UMLS:C0423776" ], "is_a": [ "HP:0040211", "HP:0100276" ], "is_obsolete": "", "replace_id": "" }, "HP:0010612": { "name": [ "plantar pits", "plantar pit" ], "alt_id": [], "def": "The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.", "synonym": [], "xref": [ "UMLS:C1852301" ], "is_a": [ "HP:0100276", "HP:0100872" ], "is_obsolete": "", "replace_id": "" }, "HP:0010614": { "name": [ "fibroma", "fibroma" ], "alt_id": [], "def": "Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \\\"fibroblastic\\", "synonym": [], "xref": [ "MSH:D005350", "NCIT:C3041", "SNOMEDCT_US:112682009", "SNOMEDCT_US:424568000", "UMLS:C0016045" ], "is_a": [ "HP:0012316", "HP:0030448" ], "is_obsolete": "", "replace_id": "" }, "HP:0010615": { "name": [ "angiofibromas", "angiofibromas" ], "alt_id": [], "def": "Angiofibroma consist of many often dilated vessels.", "synonym": [], "xref": [ "MSH:D018322", "NCIT:C3799", "SNOMEDCT_US:302857002", "SNOMEDCT_US:60392001", "UMLS:C0206731" ], "is_a": [ "HP:0010614" ], "is_obsolete": "", "replace_id": "" }, "HP:0010616": { "name": [ "lung fibroma", "lung fibroma" ], "alt_id": [], "def": "The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule.", "synonym": [], "xref": [ "NCIT:C3041", "SNOMEDCT_US:707387004", "UMLS:C1334444" ], "is_a": [ "HP:0010614", "HP:0100526" ], "is_obsolete": "", "replace_id": "" }, "HP:0010617": { "name": [ "cardiac fibroma", "cardiac fibroma" ], "alt_id": [], "def": "A fibroma of the heart.", "synonym": [], "xref": [ "NCIT:C3041", "UMLS:C1096654" ], "is_a": [ "HP:0010614", "HP:0100544" ], "is_obsolete": "", "replace_id": "" }, "HP:0010618": { "name": [ "ovarian fibroma", "ovarian fibroma" ], "alt_id": [], "def": "The presence of a fibroma of the ovary.", "synonym": [], "xref": [ "MSH:C562391", "NCIT:C3041", "SNOMEDCT_US:254865006", "UMLS:C0149951" ], "is_a": [ "HP:0010614", "HP:0100615" ], "is_obsolete": "", "replace_id": "" }, "HP:0010619": { "name": [ "fibroadenoma of the breast", "fibroadenoma of the breast" ], "alt_id": [], "def": "A benign biphasic tumor of the breast with epithelial and stromal components.", "synonym": [ [ "breast fibroadenoma", "breast fibroadenoma" ], [ "breast fibroadenomas", "breast fibroadenoma" ], [ "breast fibroadenosis", "breast fibroadenosis" ], [ "fibroadenosis - breast", "fibroadenosis - breast" ], [ "fibroadenosis of breast", "fibroadenosis of breast" ] ], "xref": [ "NCIT:C3744", "SNOMEDCT_US:254845004", "UMLS:C0178421" ], "is_a": [ "HP:0010614", "HP:0100013" ], "is_obsolete": "", "replace_id": "" }, "HP:0010620": { "name": [ "malar prominence", "malar prominence" ], "alt_id": [ "HP:0000310" ], "def": "Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face.", "synonym": [ [ "hyperplasia of malar bones", "hyperplasia of malar bone" ], [ "malar excess", "malar excess" ], [ "malar hyperplasia", "malar hyperplasia" ], [ "prominent malar region", "prominent malar region" ] ], "xref": [ "UMLS:C1858732", "UMLS:C4280374" ], "is_a": [ "HP:0012369" ], "is_obsolete": "", "replace_id": "" }, "HP:0010621": { "name": [ "cutaneous syndactyly of toes", "cutaneous syndactyly of toe" ], "alt_id": [ "HP:0001990", "HP:0004707", "HP:0010555" ], "def": "A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.", "synonym": [ [ "cutaneous syndactyly of feet", "cutaneous syndactyly of foot" ], [ "soft tissue syndactyly of toes", "soft tissue syndactyly of toe" ], [ "webbed skin of toes", "webbed skin of toe" ] ], "xref": [ "UMLS:C1834737" ], "is_a": [ "HP:0001770", "HP:0012725" ], "is_obsolete": "", "replace_id": "" }, "HP:0010622": { "name": [ "neoplasm of the skeletal system", "neoplasm of the skeletal system" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the skeleton.", "synonym": [ [ "bone neoplasm", "bone neoplasm" ], [ "neoplasia of the skeletal system", "neoplasia of the skeletal system" ], [ "skeletal tumor", "skeletal tumor" ], [ "skeletal tumour", "skeletal tumour" ] ], "xref": [ "NCIT:C3262", "SNOMEDCT_US:442868003", "UMLS:C2732838", "UMLS:C4020771" ], "is_a": [ "HP:0011793", "HP:0011842" ], "is_obsolete": "", "replace_id": "" }, "HP:0010624": { "name": [ "aplastic / hypoplastic toenail", "aplastic / hypoplastic toenail" ], "alt_id": [ "HP:0008381", "HP:0008389" ], "def": "Absence or underdevelopment of the toenail.", "synonym": [ [ "absent / small toenails", "absent / small toenail" ], [ "absent / underdeveloped toenails", "absent / underdevelop toenail" ], [ "aplastic / hypoplastic toenails", "aplastic / hypoplastic toenail" ], [ "hypoplastic - absent toenails", "hypoplastic - absent toenail" ] ], "xref": [ "UMLS:C1856749" ], "is_a": [ "HP:0008386", "HP:0008388" ], "is_obsolete": "", "replace_id": "" }, "HP:0010625": { "name": [ "anterior pituitary dysgenesis", "anterior pituitary dysgenesis" ], "alt_id": [], "def": "Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.", "synonym": [ [ "adenohypophysis", "adenohypophysis" ] ], "xref": [ "MSH:D010903", "SNOMEDCT_US:62818001", "UMLS:C0032008", "UMLS:C4023771" ], "is_a": [ "HP:0011747" ], "is_obsolete": "", "replace_id": "" }, "HP:0010626": { "name": [ "anterior pituitary agenesis", "anterior pituitary agenesis" ], "alt_id": [], "def": "Absence of the anterior pituitary gland resulting from a developmental defect.", "synonym": [ [ "absent pituitary gland", "absent pituitary gland" ], [ "aplasia of the pituitary gland", "aplasia of the pituitary gland" ] ], "xref": [ "UMLS:C4021249" ], "is_a": [ "HP:0010625" ], "is_obsolete": "", "replace_id": "" }, "HP:0010627": { "name": [ "anterior pituitary hypoplasia", "anterior pituitary hypoplasia" ], "alt_id": [ "HP:0008238" ], "def": "Underdevelopment of the anterior pituitary gland.", "synonym": [ [ "hypoplasia of the pituitary gland", "hypoplasia of the pituitary gland" ], [ "underdeveloped pituitary gland", "underdeveloped pituitary gland" ] ], "xref": [ "UMLS:C0948740", "UMLS:C1859775" ], "is_a": [ "HP:0010625" ], "is_obsolete": "", "replace_id": "" }, "HP:0010628": { "name": [ "facial palsy", "facial palsy" ], "alt_id": [ "HP:0000296", "HP:0000302", "HP:0000344", "HP:0000353", "HP:0002008", "HP:0002259", "HP:0002517", "HP:0004670", "HP:0007212", "HP:0200004" ], "def": "Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.", "synonym": [ [ "bell 's palsy", "bell 's palsy" ], [ "cranial nerve vii palsy", "cranial nerve vii palsy" ], [ "facial muscle weakness of muscles innervated by cn vii", "facial muscle weakness of muscle innervate by cn vii" ], [ "facial nerve palsy", "facial nerve palsy" ], [ "facial nerve paralysis", "facial nerve paralysis" ], [ "facial palsy , unilateral or bilateral", "facial palsy , unilateral or bilateral" ], [ "seventh cranial nerve palsy", "seventh cranial nerve palsy" ], [ "vii th cranial nerve palsy", "vii th cranial nerve palsy" ] ], "xref": [ "MSH:D005158", "MSH:D020330", "SNOMEDCT_US:193093009", "SNOMEDCT_US:95666008", "UMLS:C0376175", "UMLS:C0427055", "UMLS:C1858719" ], "is_a": [ "HP:0001324", "HP:0006824", "HP:0010827", "HP:0030319" ], "is_obsolete": "", "replace_id": "" }, "HP:0010629": { "name": [ "abnormal morphology of the cortex of the humerus", "abnormal morphology of the cortex of the humerus" ], "alt_id": [], "def": "Any abnormality affecting the cortex of the humerus.", "synonym": [], "xref": [ "UMLS:C4023770" ], "is_a": [ "HP:0003103", "HP:0031095" ], "is_obsolete": "", "replace_id": "" }, "HP:0010630": { "name": [ "abnormality of metatarsal epiphysis", "abnormality of metatarsal epiphysis" ], "alt_id": [], "def": "Any abnormality of a metatarsal bone epiphysis.", "synonym": [ [ "abnormality of end part of long bone of foot", "abnormality of end part of long bone of foot" ], [ "abnormality of the epiphyses of the metatarsals", "abnormality of the epiphysis of the metatarsal" ] ], "xref": [ "UMLS:C4021248" ], "is_a": [ "HP:0001832", "HP:0010631" ], "is_obsolete": "", "replace_id": "" }, "HP:0010631": { "name": [ "abnormality of the epiphyses of the feet", "abnormality of the epiphysis of the foot" ], "alt_id": [], "def": "Any abnormality of the epiphyses of the feet.", "synonym": [ [ "abnormality of the end part of the foot bone", "abnormality of the end part of the foot bone" ] ], "xref": [ "UMLS:C4023769" ], "is_a": [ "HP:0006500" ], "is_obsolete": "", "replace_id": "" }, "HP:0010632": { "name": [ "total anosmia", "total anosmia" ], "alt_id": [], "def": "Inability to detect any qualitative olfactory sensation.", "synonym": [], "xref": [ "UMLS:C4023768" ], "is_a": [ "HP:0000458" ], "is_obsolete": "", "replace_id": "" }, "HP:0010633": { "name": [ "partial anosmia", "partial anosmia" ], "alt_id": [], "def": "Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).", "synonym": [], "xref": [ "UMLS:C4023767" ], "is_a": [ "HP:0000458" ], "is_obsolete": "", "replace_id": "" }, "HP:0010634": { "name": [ "total hyposmia", "total hyposmia" ], "alt_id": [], "def": "Reduced ability to detect any qualitative olfactory sensation.", "synonym": [], "xref": [ "UMLS:C4023766" ], "is_a": [ "HP:0004409" ], "is_obsolete": "", "replace_id": "" }, "HP:0010635": { "name": [ "partial hyposmia", "partial hyposmia" ], "alt_id": [], "def": "Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).", "synonym": [], "xref": [ "UMLS:C4023765" ], "is_a": [ "HP:0004409" ], "is_obsolete": "", "replace_id": "" }, "HP:0010636": { "name": [ "schizencephaly", "schizencephaly" ], "alt_id": [], "def": "The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.", "synonym": [], "xref": [ "MSH:D065707", "SNOMEDCT_US:253159001", "SNOMEDCT_US:38353004", "UMLS:C0266484" ], "is_a": [ "HP:0002060" ], "is_obsolete": "", "replace_id": "" }, "HP:0010637": { "name": [ "conjunctival amyloidosis", "conjunctival amyloidosis" ], "alt_id": [], "def": "A form of amyloidosis that affects the conjunctiva.", "synonym": [], "xref": [ "SNOMEDCT_US:59017008", "UMLS:C0268402" ], "is_a": [ "HP:0000502", "HP:0011034" ], "is_obsolete": "", "replace_id": "" }, "HP:0010638": { "name": [ "elevated alkaline phosphatase of hepatic origin", "elevate alkaline phosphatase of hepatic origin" ], "alt_id": [], "def": "An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.", "synonym": [ [ "elevated alp of hepatic origin", "elevate alp of hepatic origin" ] ], "xref": [ "UMLS:C4023764" ], "is_a": [ "HP:0010679" ], "is_obsolete": "", "replace_id": "" }, "HP:0010639": { "name": [ "elevated alkaline phosphatase of bone origin", "elevate alkaline phosphatase of bone origin" ], "alt_id": [ "HP:0008266" ], "def": "An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.", "synonym": [ [ "elevated alkaline phosphatase of bone origin", "elevate alkaline phosphatase of bone origin" ], [ "elevated alp of bone origin", "elevate alp of bone origin" ], [ "increased serum bone - specific alkaline phosphatase", "increase serum bone - specific alkaline phosphatase" ] ], "xref": [ "UMLS:C1833667" ], "is_a": [ "HP:0010679" ], "is_obsolete": "", "replace_id": "" }, "HP:0010640": { "name": [ "abnormality of the nasal cavity", "abnormality of the nasal cavity" ], "alt_id": [], "def": "Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures).", "synonym": [], "xref": [ "UMLS:C4023763" ], "is_a": [ "HP:0000366" ], "is_obsolete": "", "replace_id": "" }, "HP:0010641": { "name": [ "abnormality of the midnasal cavity", "abnormality of the midnasal cavity" ], "alt_id": [], "def": "Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.", "synonym": [], "xref": [ "UMLS:C4021861" ], "is_a": [ "HP:0010640" ], "is_obsolete": "", "replace_id": "" }, "HP:0010643": { "name": [ "midnasal atresia", "midnasal atresia" ], "alt_id": [], "def": "Absence or abnormal closure of the midnasal cavity.", "synonym": [], "xref": [ "UMLS:C4023762" ], "is_a": [ "HP:0010644" ], "is_obsolete": "", "replace_id": "" }, "HP:0010644": { "name": [ "midnasal stenosis", "midnasal stenosis" ], "alt_id": [ "HP:0010642" ], "def": "Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.", "synonym": [ [ "midnasal atresia or stenosis", "midnasal atresia or stenosis" ] ], "xref": [ "UMLS:C1840238" ], "is_a": [ "HP:0010641" ], "is_obsolete": "", "replace_id": "" }, "HP:0010645": { "name": [ "aplasia of the distal phalanges of the toes", "aplasia of the distal phalanx of the toe" ], "alt_id": [], "def": "Absence of the distal phalanges of the toes.", "synonym": [ [ "absent outermost bone of the toes", "absent outermost bone of the toe" ] ], "xref": [ "UMLS:C4023761" ], "is_a": [ "HP:0010185", "HP:0010745" ], "is_obsolete": "", "replace_id": "" }, "HP:0010646": { "name": [ "cervical spine instability", "cervical spine instability" ], "alt_id": [], "def": "An abnormal lack of stability of the cervical spine.", "synonym": [], "xref": [ "SNOMEDCT_US:202821008", "UMLS:C0410652" ], "is_a": [ "HP:0003319" ], "is_obsolete": "", "replace_id": "" }, "HP:0010647": { "name": [ "abnormal elasticity of skin", "abnormal elasticity of skin" ], "alt_id": [], "def": "Any abnormal increase or reduction in skin elasticity.", "synonym": [], "xref": [ "UMLS:C4023760" ], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0010648": { "name": [ "dermal translucency", "dermal translucency" ], "alt_id": [], "def": "An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.", "synonym": [ [ "translucent skin", "translucent skin" ] ], "xref": [ "UMLS:C1836646" ], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0010649": { "name": [ "flat nasal alae", "flat nasal ala" ], "alt_id": [], "def": "An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae).", "synonym": [ [ "depressed nasal alae", "depress nasal ala" ], [ "flat nasal alar cartilage", "flat nasal alar cartilage" ] ], "xref": [ "UMLS:C4023759" ], "is_a": [ "HP:0000429" ], "is_obsolete": "", "replace_id": "" }, "HP:0010650": { "name": [ "hypoplasia of the premaxilla", "hypoplasia of the premaxilla" ], "alt_id": [], "def": "An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures.", "synonym": [ [ "decreased size of premaxilla", "decreased size of premaxilla" ], [ "decreased size of the primary palate bone", "decreased size of the primary palate bone" ], [ "hypoplasia of the intermaxillary bone", "hypoplasia of the intermaxillary bone" ], [ "hypoplasia of the primary palate bone", "hypoplasia of the primary palate bone" ], [ "premaxillary bone deficiency", "premaxillary bone deficiency" ], [ "premaxillary bone retrusion", "premaxillary bone retrusion" ], [ "premaxillary retrusion", "premaxillary retrusion" ], [ "premaxillary underdevelopment", "premaxillary underdevelopment" ], [ "primary palate bone deficiency", "primary palate bone deficiency" ], [ "primary palate bone retrusion", "primary palate bone retrusion" ], [ "small premaxilla", "small premaxilla" ], [ "small primary palate bone", "small primary palate bone" ], [ "underdevelopment of premaxilla", "underdevelopment of premaxilla" ], [ "underdevelopment of the premaxilla", "underdevelopment of the premaxilla" ], [ "underdevelopment of the primary palate bone", "underdevelopment of the primary palate bone" ] ], "xref": [ "UMLS:C4020770", "UMLS:C4072878" ], "is_a": [ "HP:0002692", "HP:0010756" ], "is_obsolete": "", "replace_id": "" }, "HP:0010651": { "name": [ "abnormal meningeal morphology", "abnormal meningeal morphology" ], "alt_id": [], "def": "An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.", "synonym": [ [ "abnormality of the meninges", "abnormality of the meninges" ] ], "xref": [ "UMLS:C4023758" ], "is_a": [ "HP:0002011" ], "is_obsolete": "", "replace_id": "" }, "HP:0010652": { "name": [ "abnormal dura mater morphology", "abnormal dura mater morphology" ], "alt_id": [], "def": "An abnormality of the Dura mater.", "synonym": [ [ "abnormality of the dura mater", "abnormality of the dura mater" ] ], "xref": [ "UMLS:C4023757" ], "is_a": [ "HP:0010651" ], "is_obsolete": "", "replace_id": "" }, "HP:0010653": { "name": [ "abnormality of the falx cerebri", "abnormality of the falx cerebri" ], "alt_id": [], "def": "An abnormality of the Falx cerebri.", "synonym": [ [ "abnormality of the cerebral falx", "abnormality of the cerebral falx" ] ], "xref": [ "UMLS:C4021247" ], "is_a": [ "HP:0010652" ], "is_obsolete": "", "replace_id": "" }, "HP:0010654": { "name": [ "aplasia of the falx cerebri", "aplasia of the falx cerebri" ], "alt_id": [], "def": "A developmental defect characterized by aplasia of the Falx cerebri.", "synonym": [ [ "absent cerebral falx", "absent cerebral falx" ] ], "xref": [ "UMLS:C4023756" ], "is_a": [ "HP:0010653" ], "is_obsolete": "", "replace_id": "" }, "HP:0010655": { "name": [ "epiphyseal stippling", "epiphyseal stipple" ], "alt_id": [ "HP:0002658", "HP:0010586" ], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.", "synonym": [ [ "epiphyseal punctate calcifications", "epiphyseal punctate calcification" ], [ "speckled calcifications in end part of bone", "speckled calcification in end part of bone" ], [ "stippled epiphyses", "stipple epiphysis" ], [ "stippling of the epiphyses", "stippling of the epiphysis" ] ], "xref": [ "SNOMEDCT_US:360507004", "UMLS:C1859126" ], "is_a": [ "HP:0005930", "HP:0010656", "HP:0010766" ], "is_obsolete": "", "replace_id": "" }, "HP:0010656": { "name": [ "abnormal epiphyseal ossification", "abnormal epiphyseal ossification" ], "alt_id": [], "def": "An abnormality of the formation and mineralization of an epiphysis.", "synonym": [ [ "abnormal maturation of the end part of a bone", "abnormal maturation of the end part of a bone" ], [ "abnormality of the mineralisation or ossification of the epiphyses", "abnormality of the mineralisation or ossification of the epiphysis" ] ], "xref": [ "UMLS:C4021246" ], "is_a": [ "HP:0003336" ], "is_obsolete": "", "replace_id": "" }, "HP:0010657": { "name": [ "patchy reduction of bone mineral density", "patchy reduction of bone mineral density" ], "alt_id": [], "def": "Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.", "synonym": [], "xref": [ "UMLS:C4023755" ], "is_a": [ "HP:0002797", "HP:0004349", "HP:0010658" ], "is_obsolete": "", "replace_id": "" }, "HP:0010658": { "name": [ "patchy changes of bone mineral density", "patchy change of bone mineral density" ], "alt_id": [], "def": "Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density).", "synonym": [], "xref": [ "UMLS:C4023754" ], "is_a": [ "HP:0004348" ], "is_obsolete": "", "replace_id": "" }, "HP:0010659": { "name": [ "patchy variation in bone mineral density", "patchy variation in bone mineral density" ], "alt_id": [], "def": "Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays.", "synonym": [ [ "patchy increased and decreased bone mineral density", "patchy increase and decrease bone mineral density" ] ], "xref": [ "UMLS:C4021245" ], "is_a": [ "HP:0004349", "HP:0010658" ], "is_obsolete": "", "replace_id": "" }, "HP:0010660": { "name": [ "abnormal hand bone ossification", "abnormal hand bone ossification" ], "alt_id": [ "HP:0005921" ], "def": "An abnormality of the formation and mineralization of any bone of the skeleton of hand.", "synonym": [ [ "abnormal maturation of the hand bones", "abnormal maturation of the hand bone" ], [ "abnormal ossification of hand bones", "abnormal ossification of hand bone" ], [ "abnormality of the mineralisation and ossification of bones of the hand", "abnormality of the mineralisation and ossification of bone of the hand" ] ], "xref": [ "UMLS:C4021244" ], "is_a": [ "HP:0001155", "HP:0003336" ], "is_obsolete": "", "replace_id": "" }, "HP:0010661": { "name": [ "absence of the third cerebral ventricle", "absence of the third cerebral ventricle" ], "alt_id": [], "def": "A developmental defect characterized by the absence of the third ventricle.", "synonym": [], "xref": [ "UMLS:C4023753" ], "is_a": [ "HP:0010951" ], "is_obsolete": "", "replace_id": "" }, "HP:0010662": { "name": [ "abnormality of the diencephalon", "abnormality of the diencephalon" ], "alt_id": [], "def": "An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.", "synonym": [], "xref": [ "UMLS:C4023752" ], "is_a": [ "HP:0100547" ], "is_obsolete": "", "replace_id": "" }, "HP:0010663": { "name": [ "abnormality of thalamus morphology", "abnormality of thalamus morphology" ], "alt_id": [], "def": "An abnormality of the thalamus.", "synonym": [ [ "abnormal shape of thalamus", "abnormal shape of thalamus" ], [ "abnormality of the thalamus", "abnormality of the thalamus" ] ], "xref": [ "UMLS:C4021243" ], "is_a": [ "HP:0010662" ], "is_obsolete": "", "replace_id": "" }, "HP:0010664": { "name": [ "fusion of the left and right thalami", "fusion of the left and right thalamus" ], "alt_id": [], "def": "A developmental defect characterized by fusion of the left and right halves of the thalamus.", "synonym": [ [ "fused thalami", "fuse thalamus" ], [ "fusion of thamali", "fusion of thamali" ], [ "undivided thalami", "undivided thalamus" ] ], "xref": [ "UMLS:C1834930", "UMLS:C4020769" ], "is_a": [ "HP:0010663" ], "is_obsolete": "", "replace_id": "" }, "HP:0010665": { "name": [ "bilateral coxa valga", "bilateral coxa valga" ], "alt_id": [], "def": "The presence of bilateral coxa valga.", "synonym": [], "xref": [ "UMLS:C3810018" ], "is_a": [ "HP:0002673" ], "is_obsolete": "", "replace_id": "" }, "HP:0010666": { "name": [ "hypoplasia of the anterior nasal spine", "hypoplasia of the anterior nasal spine" ], "alt_id": [], "def": "Underdevelopment of the anterior nasal spine of maxilla.", "synonym": [ [ "decreased length of anterior nasal spine", "decreased length of anterior nasal spine" ], [ "decreased projection of anterior nasal spine", "decreased projection of anterior nasal spine" ], [ "decreased size of anterior nasal spine", "decreased size of anterior nasal spine" ], [ "deficiency of anterior nasal spine", "deficiency of anterior nasal spine" ], [ "hypotrophic anterior nasal spine", "hypotrophic anterior nasal spine" ], [ "small anterior nasal spine", "small anterior nasal spine" ], [ "underdevelopment of anterior nasal spine", "underdevelopment of anterior nasal spine" ] ], "xref": [ "UMLS:C4023751", "UMLS:C4280372", "UMLS:C4280373" ], "is_a": [ "HP:0000327" ], "is_obsolete": "", "replace_id": "" }, "HP:0010667": { "name": [ "aplasia of the maxilla", "aplasia of the maxilla" ], "alt_id": [], "def": "A congenital defect characterized by absence of the Maxilla.", "synonym": [ [ "absence of the maxilla", "absence of the maxilla" ], [ "absence of upper jaw bones", "absence of upper jaw bone" ], [ "agenesis of the maxilla", "agenesis of the maxilla" ], [ "aplasia of the upper jaw bones", "aplasia of the upper jaw bone" ], [ "failure of development of maxilla", "failure of development of maxilla" ], [ "failure of development of upper jaw bones", "failure of development of upper jaw bone" ], [ "missing upper jaw bones", "miss upper jaw bone" ] ], "xref": [ "UMLS:C4023750", "UMLS:C4280371" ], "is_a": [ "HP:0000326", "HP:0040008" ], "is_obsolete": "", "replace_id": "" }, "HP:0010668": { "name": [ "abnormality of the zygomatic bone", "abnormality of the zygomatic bone" ], "alt_id": [], "def": "An abnormality of the zygomatic bone.", "synonym": [ [ "abnormality of the cheekbone", "abnormality of the cheekbone" ], [ "anomaly of the zygomatic bone", "anomaly of the zygomatic bone" ], [ "deformity of the cheekbone", "deformity of the cheekbone" ], [ "deformity of the zygomatic bone", "deformity of the zygomatic bone" ], [ "malformation of the zygomatic bone", "malformation of the zygomatic bone" ] ], "xref": [ "UMLS:C4023749" ], "is_a": [ "HP:0011821" ], "is_obsolete": "", "replace_id": "" }, "HP:0010669": { "name": [ "hypoplasia of the zygomatic bone", "hypoplasia of the zygomatic bone" ], "alt_id": [], "def": "Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.", "synonym": [ [ "cheekbone underdevelopment", "cheekbone underdevelopment" ], [ "decreased size of cheekbone", "decreased size of cheekbone" ], [ "decreased size of zygomatic bone", "decreased size of zygomatic bone" ], [ "depressed cheekbone", "depressed cheekbone" ], [ "depressed zygomatic bone", "depress zygomatic bone" ], [ "flattening of the zygomatic bone", "flattening of the zygomatic bone" ], [ "hypoplasia of cheekbone", "hypoplasia of cheekbone" ], [ "hypotrophic cheekbone", "hypotrophic cheekbone" ], [ "hypotrophic zygomatic bone", "hypotrophic zygomatic bone" ], [ "hypotrophy of the cheekbone", "hypotrophy of the cheekbone" ], [ "hypotrophy of the zygomatic bone", "hypotrophy of the zygomatic bone" ], [ "small cheekbone", "small cheekbone" ], [ "small malar bone", "small malar bone" ], [ "small zygomatic bone", "small zygomatic bone" ], [ "underdevelopment of cheekbone", "underdevelopment of cheekbone" ], [ "underdevelopment of zygomatic bone", "underdevelopment of zygomatic bone" ] ], "xref": [ "UMLS:C4021242", "UMLS:C4072879", "UMLS:C4280368", "UMLS:C4280369", "UMLS:C4280370" ], "is_a": [ "HP:0002692", "HP:0010668" ], "is_obsolete": "", "replace_id": "" }, "HP:0010672": { "name": [ "abnormality of the third metatarsal bone", "abnormality of the third metatarsal bone" ], "alt_id": [], "def": "An abnormality of the third metatarsal bone.", "synonym": [ [ "abnormality of the 3rd long bone of foot", "abnormality of the 3rd long bone of foot" ] ], "xref": [ "UMLS:C4023748" ], "is_a": [ "HP:0001832" ], "is_obsolete": "", "replace_id": "" }, "HP:0010674": { "name": [ "abnormality of the curvature of the vertebral column", "abnormality of the curvature of the vertebral column" ], "alt_id": [], "def": "The presence of an abnormal curvature of the vertebral column.", "synonym": [ [ "abnormal curve of the backbone", "abnormal curve of the backbone" ], [ "abnormal curve of the spine", "abnormal curve of the spine" ], [ "abnormal curving of the spine", "abnormal curving of the spine" ], [ "curvature of spine", "curvature of spine" ], [ "curved spine", "curve spine" ] ], "xref": [ "UMLS:C4023747" ], "is_a": [ "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0010675": { "name": [ "abnormal foot bone ossification", "abnormal foot bone ossification" ], "alt_id": [ "HP:0008370", "HP:0009133" ], "def": "An abnormality of the formation and mineralization of any bone of the skeleton of foot.", "synonym": [ [ "abnormal maturation of foot bones", "abnormal maturation of foot bone" ], [ "abnormal ossification involving bones of the feet", "abnormal ossification involve bone of the foot" ], [ "abnormality of the mineralisation and ossification of bones of the feet", "abnormality of the mineralisation and ossification of bone of the foot" ] ], "xref": [ "UMLS:C4020768", "UMLS:C4021241", "UMLS:C4280367" ], "is_a": [ "HP:0001760", "HP:0003336" ], "is_obsolete": "", "replace_id": "" }, "HP:0010676": { "name": [ "mechanical ileus", "mechanical ileus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:46420000", "UMLS:C0400843" ], "is_a": [ "HP:0002595" ], "is_obsolete": "", "replace_id": "" }, "HP:0010677": { "name": [ "enuresis nocturna", "enuresis nocturna" ], "alt_id": [], "def": "Enuresis occurring during sleeping hours.", "synonym": [ [ "nocturnal enuresis", "nocturnal enuresis" ] ], "xref": [ "MSH:D053206", "SNOMEDCT_US:8009008", "UMLS:C0270327" ], "is_a": [ "HP:0000805" ], "is_obsolete": "", "replace_id": "" }, "HP:0010678": { "name": [ "enuresis diurna", "enuresis diurna" ], "alt_id": [], "def": "Enuresis occurring during waking hours of the day.", "synonym": [], "xref": [ "UMLS:C4023746" ], "is_a": [ "HP:0000805" ], "is_obsolete": "", "replace_id": "" }, "HP:0010679": { "name": [ "elevated tissue non - specific alkaline phosphatase", "elevate tissue non - specific alkaline phosphatase" ], "alt_id": [], "def": "An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.", "synonym": [ [ "elevated alkaline phosphatase , liver / bone / kidney", "elevate alkaline phosphatase , liver / bone / kidney" ], [ "elevated tissue non - specific alp", "elevate tissue non - specific alp" ] ], "xref": [ "UMLS:C4021240" ], "is_a": [ "HP:0003155" ], "is_obsolete": "", "replace_id": "" }, "HP:0010680": { "name": [ "elevated alkaline phosphatase of renal origin", "elevate alkaline phosphatase of renal origin" ], "alt_id": [], "def": "An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.", "synonym": [ [ "elevated alp of renal origin", "elevate alp of renal origin" ] ], "xref": [ "UMLS:C4023745" ], "is_a": [ "HP:0010679", "HP:0012211" ], "is_obsolete": "", "replace_id": "" }, "HP:0010681": { "name": [ "elevated intestinal alkaline phosphatase", "elevate intestinal alkaline phosphatase" ], "alt_id": [], "def": "An abnormally increased level of alkaline phosphatase, intestinal type in the blood.", "synonym": [ [ "elevated intestinal alp", "elevate intestinal alp" ] ], "xref": [ "UMLS:C4023744" ], "is_a": [ "HP:0003155" ], "is_obsolete": "", "replace_id": "" }, "HP:0010682": { "name": [ "elevated placental alkaline phosphatase", "elevate placental alkaline phosphatase" ], "alt_id": [], "def": "An abnormally increased level of alkaline phosphatase, placental type in the blood.", "synonym": [ [ "elevated placental alp", "elevate placental alp" ] ], "xref": [ "UMLS:C4023743" ], "is_a": [ "HP:0003155" ], "is_obsolete": "", "replace_id": "" }, "HP:0010683": { "name": [ "low tissue non - specific alkaline phosphatase", "low tissue non - specific alkaline phosphatase" ], "alt_id": [], "def": "An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.", "synonym": [ [ "low tissue non - specific alp", "low tissue non - specific alp" ] ], "xref": [ "UMLS:C4023742" ], "is_a": [ "HP:0003282" ], "is_obsolete": "", "replace_id": "" }, "HP:0010684": { "name": [ "low alkaline phosphatase of bone origin", "low alkaline phosphatase of bone origin" ], "alt_id": [], "def": "An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood.", "synonym": [ [ "low alp of bone origin", "low alp of bone origin" ] ], "xref": [ "UMLS:C4023741" ], "is_a": [ "HP:0003282" ], "is_obsolete": "", "replace_id": "" }, "HP:0010685": { "name": [ "low alkaline phosphatase of renal origin", "low alkaline phosphatase of renal origin" ], "alt_id": [], "def": "An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood.", "synonym": [ [ "low alp of renal origin", "low alp of renal origin" ] ], "xref": [ "UMLS:C4023740" ], "is_a": [ "HP:0003282", "HP:0012211" ], "is_obsolete": "", "replace_id": "" }, "HP:0010686": { "name": [ "low alkaline phosphatase of hepatic origin", "low alkaline phosphatase of hepatic origin" ], "alt_id": [], "def": "An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood.", "synonym": [ [ "low alp of hepatic origin", "low alp of hepatic origin" ] ], "xref": [ "UMLS:C4023739" ], "is_a": [ "HP:0003282" ], "is_obsolete": "", "replace_id": "" }, "HP:0010687": { "name": [ "low intestinal alkaline phosphatase", "low intestinal alkaline phosphatase" ], "alt_id": [], "def": "An abnormally reduced level of alkaline phosphatase, intestinal type in the blood.", "synonym": [ [ "low intestinal alp", "low intestinal alp" ] ], "xref": [ "UMLS:C4023738" ], "is_a": [ "HP:0003282" ], "is_obsolete": "", "replace_id": "" }, "HP:0010688": { "name": [ "low placental alkaline phosphatase", "low placental alkaline phosphatase" ], "alt_id": [], "def": "An abnormally reduced level of alkaline phosphatase, placental type in the blood.", "synonym": [ [ "low placental alp", "low placental alp" ] ], "xref": [ "UMLS:C4023737" ], "is_a": [ "HP:0003282" ], "is_obsolete": "", "replace_id": "" }, "HP:0010689": { "name": [ "mirror image polydactyly", "mirror image polydactyly" ], "alt_id": [], "def": "A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers/toes.", "synonym": [ [ "mirror image duplication of digits", "mirror image duplication of digit" ] ], "xref": [ "MSH:C535689", "SNOMEDCT_US:715440003", "UMLS:C1851100" ], "is_a": [ "HP:0010442" ], "is_obsolete": "", "replace_id": "" }, "HP:0010690": { "name": [ "mirror image hand polydactyly", "mirror image hand polydactyly" ], "alt_id": [], "def": "Mirror image duplication of digits affecting the hands only.", "synonym": [ [ "mirror image dupliction of fingers", "mirror image dupliction of finger" ] ], "xref": [ "UMLS:C4021239" ], "is_a": [ "HP:0001161", "HP:0010689" ], "is_obsolete": "", "replace_id": "" }, "HP:0010691": { "name": [ "mirror image foot polydactyly", "mirror image foot polydactyly" ], "alt_id": [], "def": "Mirror image duplication of digits affecting the feet.", "synonym": [ [ "mirror image dupliction of toes", "mirror image dupliction of toe" ] ], "xref": [ "UMLS:C4021238" ], "is_a": [ "HP:0001829", "HP:0010689" ], "is_obsolete": "", "replace_id": "" }, "HP:0010692": { "name": [ "2 - 5 finger syndactyly", "2 - 5 finger syndactyly" ], "alt_id": [], "def": "Syndactyly with fusion of fingers two to five.", "synonym": [ [ "webbed 2nd - 5th fingers", "web 2nd - 5th finger" ], [ "webbed index , middle and little finger", "webbed index , middle and little finger" ], [ "webbed index , middle and pinkie finger", "webbed index , middle and pinkie finger" ], [ "webbed index , middle and pinky finger", "webbed index , middle and pinky finger" ] ], "xref": [ "UMLS:C4023736" ], "is_a": [ "HP:0006101" ], "is_obsolete": "", "replace_id": "" }, "HP:0010693": { "name": [ "pulverulent cataract", "pulverulent cataract" ], "alt_id": [], "def": "A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.", "synonym": [ [ "pulverulent cataract", "pulverulent cataract" ] ], "xref": [ "MSH:C563426", "UMLS:C1833118" ], "is_a": [ "HP:0007648" ], "is_obsolete": "", "replace_id": "" }, "HP:0010694": { "name": [ "lamellar pulverulent cataract", "lamellar pulverulent cataract" ], "alt_id": [], "def": "A Lamellar cataract with a pulverulent (punctate, \\\"dust-like\\", "synonym": [], "xref": [ "UMLS:C4023735" ], "is_a": [ "HP:0007971" ], "is_obsolete": "", "replace_id": "" }, "HP:0010695": { "name": [ "sutural cataract", "sutural cataract" ], "alt_id": [], "def": "A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.", "synonym": [], "xref": [ "UMLS:C4023734" ], "is_a": [ "HP:0010920" ], "is_obsolete": "", "replace_id": "" }, "HP:0010696": { "name": [ "polar cataract", "polar cataract" ], "alt_id": [], "def": "A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens.", "synonym": [], "xref": [ "UMLS:C2025392" ], "is_a": [ "HP:0000518" ], "is_obsolete": "", "replace_id": "" }, "HP:0010697": { "name": [ "anterior pyramidal cataract", "anterior pyramidal cataract" ], "alt_id": [], "def": "A type of anterior polar cataract which projects as a conical opacity into the anterior chamber.", "synonym": [ [ "pyramidal cataract", "pyramidal cataract" ] ], "xref": [ "UMLS:C1392099" ], "is_a": [ "HP:0001134" ], "is_obsolete": "", "replace_id": "" }, "HP:0010698": { "name": [ "nuclear pulverulent cataract", "nuclear pulverulent cataract" ], "alt_id": [], "def": "A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus.", "synonym": [ [ "cataracta pulverulenta centralis", "cataracta pulverulenta centralis" ], [ "central pulverulent cataract", "central pulverulent cataract" ], [ "coppock - like cataract", "coppock - like cataract" ], [ "pulverulent nuclear cataract", "pulverulent nuclear cataract" ] ], "xref": [ "UMLS:C4021237" ], "is_a": [ "HP:0010693", "HP:0010925" ], "is_obsolete": "", "replace_id": "" }, "HP:0010699": { "name": [ "triangular nuclear cataract", "triangular nuclear cataract" ], "alt_id": [], "def": "A nuclear cataract with a triangular form.", "synonym": [], "xref": [ "UMLS:C4023733" ], "is_a": [ "HP:0100018" ], "is_obsolete": "", "replace_id": "" }, "HP:0010700": { "name": [ "obsolete total cataract", "obsolete total cataract" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000518" }, "HP:0010701": { "name": [ "abnormal immunoglobulin level", "abnormal immunoglobulin level" ], "alt_id": [ "HP:0100032" ], "def": "An abnormal deviation from normal levels of immunoglobulins in blood.", "synonym": [ [ "abnormal immunoglobulin concentration", "abnormal immunoglobulin concentration" ], [ "abnormal serum immunoglobulin concentration", "abnormal serum immunoglobulin concentration" ], [ "abnormal serum immunoglobulin levels", "abnormal serum immunoglobulin level" ], [ "abnormal serum level of immunoglobulin", "abnormal serum level of immunoglobulin" ], [ "immunoglobulin abnormality", "immunoglobulin abnormality" ] ], "xref": [ "UMLS:C1855755" ], "is_a": [ "HP:0005368", "HP:0005372" ], "is_obsolete": "", "replace_id": "" }, "HP:0010702": { "name": [ "increased circulating antibody level", "increase circulate antibody level" ], "alt_id": [ "HP:0002852", "HP:0004314", "HP:0004435" ], "def": "An increased level of gamma globulin (immunoglobulin) in the blood.", "synonym": [ [ "elevated immunoglobulin levels", "elevate immunoglobulin level" ], [ "hypergammaglobulinaemia", "hypergammaglobulinaemia" ], [ "hypergammaglobulinemia", "hypergammaglobulinemia" ], [ "hyperglobulinemia", "hyperglobulinemia" ], [ "increased antibody level in blood", "increase antibody level in blood" ], [ "increased gamma globulin", "increase gamma globulin" ], [ "increased immunoglobulin level", "increase immunoglobulin level" ], [ "increased serum gamma globulin", "increase serum gamma globulin" ], [ "raised immunoglobulin levels", "raise immunoglobulin level" ] ], "xref": [ "MSH:D006942", "SNOMEDCT_US:127388009", "SNOMEDCT_US:129646001", "UMLS:C0020455", "UMLS:C0151669", "UMLS:C0541985", "UMLS:C1306857", "UMLS:C2048011" ], "is_a": [ "HP:0010701" ], "is_obsolete": "", "replace_id": "" }, "HP:0010704": { "name": [ "1 - 2 finger syndactyly", "1 - 2 finger syndactyly" ], "alt_id": [], "def": "Syndactyly with fusion of fingers one and two.", "synonym": [ [ "webbed 1st - 2nd finger", "web 1st - 2nd finger" ], [ "webbed thumb and index finger", "web thumb and index finger" ] ], "xref": [ "UMLS:C4023732" ], "is_a": [ "HP:0006101" ], "is_obsolete": "", "replace_id": "" }, "HP:0010705": { "name": [ "4 - 5 finger syndactyly", "4 - 5 finger syndactyly" ], "alt_id": [], "def": "Syndactyly with fusion of fingers four and five.", "synonym": [ [ "webbed 4th - 5th finger", "web 4th - 5th finger" ] ], "xref": [ "UMLS:C4023731" ], "is_a": [ "HP:0006101" ], "is_obsolete": "", "replace_id": "" }, "HP:0010706": { "name": [ "1 - 3 finger syndactyly", "1 - 3 finger syndactyly" ], "alt_id": [], "def": "Syndactyly with fusion of fingers one to three.", "synonym": [ [ "webbed 1st - 3rd finger", "web 1st - 3rd finger" ] ], "xref": [ "UMLS:C4023730" ], "is_a": [ "HP:0006101" ], "is_obsolete": "", "replace_id": "" }, "HP:0010707": { "name": [ "1 - 4 finger syndactyly", "1 - 4 finger syndactyly" ], "alt_id": [], "def": "Syndactyly with fusion of fingers one to four.", "synonym": [ [ "webbed 1st - 4th finger", "web 1st - 4th finger" ] ], "xref": [ "UMLS:C4023729" ], "is_a": [ "HP:0006101" ], "is_obsolete": "", "replace_id": "" }, "HP:0010708": { "name": [ "1 - 5 finger syndactyly", "1 - 5 finger syndactyly" ], "alt_id": [], "def": "Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand).", "synonym": [ [ "webbed 1 - 5 fingers", "web 1 - 5 finger" ], [ "webbed 1st - 5th fingers", "web 1st - 5th finger" ] ], "xref": [ "UMLS:C4023728" ], "is_a": [ "HP:0006101" ], "is_obsolete": "", "replace_id": "" }, "HP:0010709": { "name": [ "2 - 4 finger syndactyly", "2 - 4 finger syndactyly" ], "alt_id": [ "HP:0005797", "HP:0006018" ], "def": "Syndactyly with fusion of the fingers two to four.", "synonym": [ [ "syndactyly of second to fourth fingers", "syndactyly of second to fourth finger" ], [ "webbed index through ring fingers", "webbed index through ring finger" ] ], "xref": [ "UMLS:C4021236" ], "is_a": [ "HP:0006101" ], "is_obsolete": "", "replace_id": "" }, "HP:0010710": { "name": [ "3 - 5 finger syndactyly", "3 - 5 finger syndactyly" ], "alt_id": [], "def": "Syndactyly with fusion of fingers three to five.", "synonym": [ [ "webbed third , fourth and fifth toes", "webbed third , fourth and fifth toe" ] ], "xref": [ "UMLS:C4023727" ], "is_a": [ "HP:0006101" ], "is_obsolete": "", "replace_id": "" }, "HP:0010711": { "name": [ "1 - 2 toe syndactyly", "1 - 2 toe syndactyly" ], "alt_id": [], "def": "Syndactyly with fusion of toes one and two.", "synonym": [ [ "webbed 1st - 2nd toes", "web 1st - 2nd toe" ], [ "webbed first and second toes", "web first and second toe" ] ], "xref": [ "UMLS:C4023726" ], "is_a": [ "HP:0001770" ], "is_obsolete": "", "replace_id": "" }, "HP:0010712": { "name": [ "1 - 4 toe syndactyly", "1 - 4 toe syndactyly" ], "alt_id": [], "def": "Syndactyly with fusion of toes one to four.", "synonym": [ [ "webbed first through fourth toes", "web first through fourth toe" ] ], "xref": [ "UMLS:C4023725" ], "is_a": [ "HP:0001770" ], "is_obsolete": "", "replace_id": "" }, "HP:0010713": { "name": [ "1 - 5 toe syndactyly", "1 - 5 toe syndactyly" ], "alt_id": [ "HP:0005812" ], "def": "Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).", "synonym": [ [ "syndactyly of all toes", "syndactyly of all toe" ], [ "webbed 1st - 5th toes", "web 1st - 5th toe" ] ], "xref": [ "UMLS:C4021235" ], "is_a": [ "HP:0001770" ], "is_obsolete": "", "replace_id": "" }, "HP:0010714": { "name": [ "2 - 4 toe syndactyly", "2 - 4 toe syndactyly" ], "alt_id": [ "HP:0005642", "HP:0005708" ], "def": "Syndactyly with fusion of toes two to four.", "synonym": [ [ "syndactyly of toes 2 , 3 and 4", "syndactyly of toe 2 , 3 and 4" ], [ "syndactyly toes 2 - 4", "syndactyly toe 2 - 4" ], [ "webbed 2nd - 4th toes", "web 2nd - 4th toe" ] ], "xref": [ "UMLS:C4021234" ], "is_a": [ "HP:0001770" ], "is_obsolete": "", "replace_id": "" }, "HP:0010715": { "name": [ "2 - 5 toe syndactyly", "2 - 5 toe syndactyly" ], "alt_id": [], "def": "Syndactyly with fusion of toes two to five.", "synonym": [ [ "webbed 2nd - 5th toes", "web 2nd - 5th toe" ] ], "xref": [ "UMLS:C4023724" ], "is_a": [ "HP:0001770" ], "is_obsolete": "", "replace_id": "" }, "HP:0010716": { "name": [ "3 - 5 toe syndactyly", "3 - 5 toe syndactyly" ], "alt_id": [], "def": "Syndactyly with fusion of toes three to five.", "synonym": [ [ "webbed 3rd - 5th toes", "web 3rd - 5th toe" ] ], "xref": [ "UMLS:C4023723" ], "is_a": [ "HP:0001770" ], "is_obsolete": "", "replace_id": "" }, "HP:0010717": { "name": [ "osseous syndactyly of toes", "osseous syndactyly of toe" ], "alt_id": [], "def": "Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as \\\"bony\\", "synonym": [ [ "osseous syndactyly of the toes", "osseous syndactyly of the toe" ] ], "xref": [ "SNOMEDCT_US:32113001", "SNOMEDCT_US:38859008", "UMLS:C0158738" ], "is_a": [ "HP:0001770" ], "is_obsolete": "", "replace_id": "" }, "HP:0010719": { "name": [ "abnormality of hair texture", "abnormality of hair texture" ], "alt_id": [ "HP:0002295", "HP:0003776" ], "def": "An abnormality of the texture of the hair.", "synonym": [ [ "abnormality of hair consistency", "abnormality of hair consistency" ], [ "abnormality of hair curl pattern", "abnormality of hair curl pattern" ], [ "abnormality of hair texture", "abnormality of hair texture" ], [ "abnormality of hair volume", "abnormality of hair volume" ] ], "xref": [ "UMLS:C4023722", "UMLS:C4072880", "UMLS:C4072881", "UMLS:C4073290" ], "is_a": [ "HP:0001595" ], "is_obsolete": "", "replace_id": "" }, "HP:0010720": { "name": [ "abnormal hair pattern", "abnormal hair pattern" ], "alt_id": [], "def": "An abnormality of the distribution of hair growth.", "synonym": [ [ "abnormal distribution of hair", "abnormal distribution of hair" ], [ "abnormal hair pattern", "abnormal hair pattern" ] ], "xref": [ "UMLS:C4023721" ], "is_a": [ "HP:0001595" ], "is_obsolete": "", "replace_id": "" }, "HP:0010721": { "name": [ "abnormal hair whorl", "abnormal hair whorl" ], "alt_id": [], "def": "An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).", "synonym": [ [ "abnormal hair whorl", "abnormal hair whorl" ], [ "abnormal hair whorls", "abnormal hair whorl" ], [ "abnormal whorl of hair", "abnormal whorl of hair" ] ], "xref": [ "UMLS:C3280303" ], "is_a": [ "HP:0011361" ], "is_obsolete": "", "replace_id": "" }, "HP:0010722": { "name": [ "asymmetry of the ears", "asymmetry of the ear" ], "alt_id": [], "def": "An asymmetriy, i.e., difference in size, shape or position between the left and right ear.", "synonym": [ [ "asymmetric ears", "asymmetric ear" ] ], "xref": [ "UMLS:C1168239" ], "is_a": [ "HP:0000357", "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0010723": { "name": [ "cystic lesions of the pinnae", "cystic lesion of the pinna" ], "alt_id": [ "HP:0008557" ], "def": "", "synonym": [], "xref": [ "UMLS:C4023720" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0010724": { "name": [ "advanced pneumatization of the mastoid process", "advanced pneumatization of the mastoid process" ], "alt_id": [], "def": "An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.", "synonym": [], "xref": [ "UMLS:C4021828" ], "is_a": [ "HP:0000264" ], "is_obsolete": "", "replace_id": "" }, "HP:0010726": { "name": [ "prominent corneal nerve fibers", "prominent corneal nerve fiber" ], "alt_id": [], "def": "Abnormal prominence of the corneal nerve fibers.", "synonym": [ [ "prominent corneal nerve fibres", "prominent corneal nerve fibre" ], [ "visible corneal nerve fibers", "visible corneal nerve fiber" ], [ "visible corneal nerve fibres", "visible corneal nerve fibre" ] ], "xref": [ "UMLS:C4021233" ], "is_a": [ "HP:0011492" ], "is_obsolete": "", "replace_id": "" }, "HP:0010727": { "name": [ "spontaneous rupture of the globe", "spontaneous rupture of the globe" ], "alt_id": [], "def": "Rupture of the eyeball not due to trauma.", "synonym": [], "xref": [ "UMLS:C4023719" ], "is_a": [ "HP:0012372" ], "is_obsolete": "", "replace_id": "" }, "HP:0010728": { "name": [ "aplasia of the retina", "aplasia of the retina" ], "alt_id": [], "def": "A developmental defect characterized by absence of the retina.", "synonym": [ [ "absent retina", "absent retina" ] ], "xref": [ "UMLS:C4023718" ], "is_a": [ "HP:0008061" ], "is_obsolete": "", "replace_id": "" }, "HP:0010729": { "name": [ "cherry red spot of the macula", "cherry red spot of the macula" ], "alt_id": [], "def": "Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula.", "synonym": [ [ "macular cherry red spot", "macular cherry red spot" ] ], "xref": [ "UMLS:C2216370" ], "is_a": [ "HP:0000630" ], "is_obsolete": "", "replace_id": "" }, "HP:0010730": { "name": [ "double eyebrow", "double eyebrow" ], "alt_id": [], "def": "This may present as a partial or complete duplication of the eyebrows.", "synonym": [ [ "double eyebrow", "double eyebrow" ], [ "duplication of eyebrow", "duplication of eyebrow" ] ], "xref": [ "SNOMEDCT_US:253209004", "UMLS:C0431449" ], "is_a": [ "HP:0000534" ], "is_obsolete": "", "replace_id": "" }, "HP:0010731": { "name": [ "extension of eyebrows towards upper eyelid", "extension of eyebrow towards upper eyelid" ], "alt_id": [], "def": "The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid.", "synonym": [ [ "extension of eyebrows towards upper eyelid", "extension of eyebrow towards upper eyelid" ] ], "xref": [ "UMLS:C4023717" ], "is_a": [ "HP:0011229" ], "is_obsolete": "", "replace_id": "" }, "HP:0010732": { "name": [ "nodular changes affecting the eyelids", "nodular change affect the eyelid" ], "alt_id": [], "def": "Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more.", "synonym": [ [ "eyelid nodules", "eyelid nodule" ] ], "xref": [ "UMLS:C4023716" ], "is_a": [ "HP:0000492", "HP:0200036" ], "is_obsolete": "", "replace_id": "" }, "HP:0010733": { "name": [ "naevus flammeus of the eyelid", "naevus flammeus of the eyelid" ], "alt_id": [], "def": "Naevus flammeus localised in the skin of the eyelid.", "synonym": [ [ "port - wine stain on eyelid", "port - wine stain on eyelid" ] ], "xref": [ "UMLS:C1854409" ], "is_a": [ "HP:0001052" ], "is_obsolete": "", "replace_id": "" }, "HP:0010734": { "name": [ "fibrous dysplasia of the bones", "fibrous dysplasia of the bone" ], "alt_id": [], "def": "Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia).", "synonym": [], "xref": [ "MSH:D005357", "SNOMEDCT_US:10623005", "UMLS:C0016063" ], "is_a": [ "HP:0003330" ], "is_obsolete": "", "replace_id": "" }, "HP:0010735": { "name": [ "polyostotic fibrous dysplasia", "polyostotic fibrous dysplasia" ], "alt_id": [], "def": "Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome.", "synonym": [], "xref": [ "MSH:D005359", "SNOMEDCT_US:36517007", "UMLS:C0016065" ], "is_a": [ "HP:0010734" ], "is_obsolete": "", "replace_id": "" }, "HP:0010736": { "name": [ "monostotic fibrous dysplasia", "monostotic fibrous dysplasia" ], "alt_id": [], "def": "Fibrous dysplasia of the bones were lesions are localized in only one bone.", "synonym": [], "xref": [ "MSH:D005358", "SNOMEDCT_US:89859004", "UMLS:C0016064" ], "is_a": [ "HP:0010734" ], "is_obsolete": "", "replace_id": "" }, "HP:0010739": { "name": [ "osteopoikilosis", "osteopoikilosis" ], "alt_id": [], "def": "Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake.", "synonym": [], "xref": [ "MSH:D010023", "SNOMEDCT_US:9147009", "UMLS:C0029455" ], "is_a": [ "HP:0011001" ], "is_obsolete": "", "replace_id": "" }, "HP:0010740": { "name": [ "osteopathia striata", "osteopathia striata" ], "alt_id": [], "def": "A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.", "synonym": [], "xref": [ "SNOMEDCT_US:82663009", "UMLS:C0265513" ], "is_a": [ "HP:0031367" ], "is_obsolete": "", "replace_id": "" }, "HP:0010741": { "name": [ "pedal edema", "pedal edema" ], "alt_id": [], "def": "An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.", "synonym": [ [ "dependant edema", "dependant edema" ], [ "dependant oedema", "dependant oedema" ], [ "edema of the lower limbs", "edema of the low limb" ], [ "fluid accumulation in lower limbs", "fluid accumulation in low limb" ], [ "leg edema", "leg edema" ], [ "leg oedema", "leg oedema" ], [ "lower leg swelling", "low leg swell" ], [ "oedema of the lower limbs", "oedema of the low limb" ], [ "pedal oedema", "pedal oedema" ], [ "peripheral edema of lower extremity", "peripheral edema of low extremity" ], [ "peripheral oedema of lower extremity", "peripheral oedema of low extremity" ] ], "xref": [ "SNOMEDCT_US:102572006", "UMLS:C0235886", "UMLS:C0239340" ], "is_a": [ "HP:0000969", "HP:0002814" ], "is_obsolete": "", "replace_id": "" }, "HP:0010742": { "name": [ "edema of the upper limbs", "edema of the upper limb" ], "alt_id": [], "def": "An abnormal accumulation of fluid beneath the skin of the arms.", "synonym": [ [ "fluid accumulation in upper limbs", "fluid accumulation in upper limb" ], [ "oedema of the upper limbs", "oedema of the upper limb" ] ], "xref": [ "SNOMEDCT_US:102558002", "UMLS:C0522035" ], "is_a": [ "HP:0000969", "HP:0002817" ], "is_obsolete": "", "replace_id": "" }, "HP:0010743": { "name": [ "short metatarsal", "short metatarsal" ], "alt_id": [ "HP:0001779", "HP:0001865", "HP:0003092", "HP:0004706", "HP:0005754" ], "def": "Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.", "synonym": [ [ "hypoplasia of the metatarsal bones", "hypoplasia of the metatarsal bone" ], [ "hypoplastic metatarsals", "hypoplastic metatarsal" ], [ "short long bone of foot", "short long bone of foot" ], [ "short metatarsal bone", "short metatarsal bone" ], [ "short metatarsal bones", "short metatarsal bone" ], [ "short metatarsals", "short metatarsal" ], [ "shortened metatarsals", "shorten metatarsal" ] ], "xref": [ "UMLS:C1849020" ], "is_a": [ "HP:0001964", "HP:0003026" ], "is_obsolete": "", "replace_id": "" }, "HP:0010744": { "name": [ "absent metatarsal bone", "absent metatarsal bone" ], "alt_id": [], "def": "A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.", "synonym": [ [ "absent long bone of foot", "absent long bone of foot" ], [ "aplasia of the metatarsal bones", "aplasia of the metatarsal bone" ] ], "xref": [ "UMLS:C4021232" ], "is_a": [ "HP:0001964" ], "is_obsolete": "", "replace_id": "" }, "HP:0010745": { "name": [ "aplasia of the phalanges of the toes", "aplasia of the phalanx of the toe" ], "alt_id": [], "def": "Absence of a digit or of one or more phalanges of a toe.", "synonym": [ [ "absent bones of the toes", "absent bone of the toe" ], [ "aphalangia of the toes", "aphalangia of the toe" ] ], "xref": [ "UMLS:C4021231" ], "is_a": [ "HP:0009817", "HP:0010173" ], "is_obsolete": "", "replace_id": "" }, "HP:0010746": { "name": [ "hypoplasia of the phalanges of the toes", "hypoplasia of the phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "small toe bones", "small toe bone" ] ], "xref": [ "UMLS:C4023715" ], "is_a": [ "HP:0010173" ], "is_obsolete": "", "replace_id": "" }, "HP:0010747": { "name": [ "medial flaring of the eyebrow", "medial flaring of the eyebrow" ], "alt_id": [], "def": "An abnormal distribution of eyebrow hair growth in the medial direction.", "synonym": [], "xref": [ "UMLS:C1844562" ], "is_a": [ "HP:0000534" ], "is_obsolete": "", "replace_id": "" }, "HP:0010748": { "name": [ "ectopic lacrimal punctum", "ectopic lacrimal punctum" ], "alt_id": [], "def": "Positioning of a lacrimal punctum other than at the medial margins of the eyelid.", "synonym": [ [ "abnormal position of the lacrimal punctum", "abnormal position of the lacrimal punctum" ] ], "xref": [ "UMLS:C4021230" ], "is_a": [ "HP:0011479" ], "is_obsolete": "", "replace_id": "" }, "HP:0010749": { "name": [ "blepharochalasis", "blepharochalasis" ], "alt_id": [], "def": "Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads.", "synonym": [ [ "saggy upper eyelid skin", "saggy upper eyelid skin" ] ], "xref": [ "SNOMEDCT_US:47704002", "UMLS:C0005742" ], "is_a": [ "HP:0100540" ], "is_obsolete": "", "replace_id": "" }, "HP:0010750": { "name": [ "dermatochalasis", "dermatochalasis" ], "alt_id": [], "def": "Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.", "synonym": [ [ "baggy eyes", "baggy eye" ], [ "droopy eyelid skin", "droopy eyelid skin" ], [ "extra eyelid skin", "extra eyelid skin" ], [ "eyelid dermatochalasia", "eyelid dermatochalasia" ], [ "hooding of eyelids", "hooding of eyelid" ], [ "redundant eyelid skin", "redundant eyelid skin" ] ], "xref": [ "SNOMEDCT_US:246815009", "UMLS:C0423124", "UMLS:C2674149" ], "is_a": [ "HP:0000492" ], "is_obsolete": "", "replace_id": "" }, "HP:0010751": { "name": [ "dimple chin", "dimple chin" ], "alt_id": [], "def": "A persistent midline depression of the skin over the fat pad of the chin.", "synonym": [ [ "chin butt", "chin butt" ], [ "chin dent", "chin dent" ], [ "chin dimple", "chin dimple" ], [ "chin dimples", "chin dimple" ], [ "chin skin dimple", "chin skin dimple" ], [ "dimple chin", "dimple chin" ], [ "gelasin of chin", "gelasin of chin" ], [ "indentation of chin", "indentation of chin" ] ], "xref": [ "UMLS:C1849227" ], "is_a": [ "HP:0000306" ], "is_obsolete": "", "replace_id": "" }, "HP:0010752": { "name": [ "cleft mandible", "cleft mandible" ], "alt_id": [], "def": "Midline deficiency of the mandible and some or all overlying tissues.", "synonym": [ [ "cleft lower jaw", "cleft lower jaw" ], [ "mandibular cleft", "mandibular cleft" ] ], "xref": [ "SNOMEDCT_US:92822004", "UMLS:C0685786" ], "is_a": [ "HP:0010753" ], "is_obsolete": "", "replace_id": "" }, "HP:0010753": { "name": [ "midline defect of mandible", "midline defect of mandible" ], "alt_id": [], "def": "", "synonym": [ [ "midline cleft of mandible", "midline cleft of mandible" ] ], "xref": [ "UMLS:C4023714" ], "is_a": [ "HP:0000277" ], "is_obsolete": "", "replace_id": "" }, "HP:0010754": { "name": [ "abnormality of the temporomandibular joint", "abnormality of the temporomandibular joint" ], "alt_id": [], "def": "An anomaly of the temporomandibular joint.", "synonym": [ [ "abnormality of the jaw joint", "abnormality of the jaw joint" ], [ "anomaly of the temporomandibular joint", "anomaly of the temporomandibular joint" ], [ "deformity of the jaw joint", "deformity of the jaw joint" ], [ "deformity of the temporomandibular joint", "deformity of the temporomandibular joint" ], [ "derangement of the temporomandibular joint", "derangement of the temporomandibular joint" ], [ "malformation of jaw joint", "malformation of jaw joint" ], [ "malformation of the temporomandibular joint", "malformation of the temporomandibular joint" ] ], "xref": [ "SNOMEDCT_US:248401009", "SNOMEDCT_US:75630004", "UMLS:C0266941", "UMLS:C0424721", "UMLS:C1865318", "UMLS:C4280366" ], "is_a": [ "HP:0000277" ], "is_obsolete": "", "replace_id": "" }, "HP:0010755": { "name": [ "asymmetry of the maxilla", "asymmetry of the maxilla" ], "alt_id": [], "def": "Asymmetry between the left and right sides of the maxilla.", "synonym": [ [ "asymmetry of right and left side of the maxilla", "asymmetry of right and leave side of the maxilla" ], [ "asymmetry of the upper jaw", "asymmetry of the upper jaw" ], [ "asymmetry of upper jaw", "asymmetry of upper jaw" ], [ "canted maxilla", "cant maxilla" ], [ "canted upper jaw", "cant upper jaw" ], [ "crooked maxilla", "crook maxilla" ], [ "crooked upper jaw", "crook upper jaw" ], [ "deviation of the maxilla", "deviation of the maxilla" ], [ "deviation of the upper jaw", "deviation of the upper jaw" ], [ "tilted maxilla", "tilt maxilla" ], [ "tilted upper jaw", "tilt upper jaw" ], [ "unequal sides of maxilla", "unequal side of maxilla" ], [ "uneven maxilla", "uneven maxilla" ], [ "uneven upper jaw", "uneven upper jaw" ] ], "xref": [ "SNOMEDCT_US:235083001", "UMLS:C0399519" ], "is_a": [ "HP:0000326" ], "is_obsolete": "", "replace_id": "" }, "HP:0010756": { "name": [ "aplasia / hypoplasia of the premaxilla", "aplasia / hypoplasia of the premaxilla" ], "alt_id": [], "def": "Absence or underdevelopment of the premaxilla.", "synonym": [ [ "aplasia / hypoplasia of the intermaxillary bone", "aplasia / hypoplasia of the intermaxillary bone" ], [ "aplasia / hypoplasia of the primary palate bone", "aplasia / hypoplasia of the primary palate bone" ] ], "xref": [ "UMLS:C4023713" ], "is_a": [ "HP:0010758" ], "is_obsolete": "", "replace_id": "" }, "HP:0010757": { "name": [ "aplasia of the premaxilla", "aplasia of the premaxilla" ], "alt_id": [], "def": "Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.", "synonym": [ [ "absence of the intermaxillary bone", "absence of the intermaxillary bone" ], [ "absence of the premaxilla", "absence of the premaxilla" ], [ "absence of the primary palate bone", "absence of the primary palate bone" ], [ "aplasia of the intermaxillary bone", "aplasia of the intermaxillary bone" ], [ "aplasia of the primary palate bone", "aplasia of the primary palate bone" ], [ "failure of development of premaxilla", "failure of development of premaxilla" ], [ "failure of development of the primary palate bone", "failure of development of the primary palate bone" ], [ "missing premaxilla", "miss premaxilla" ], [ "missing primary palate bone", "miss primary palate bone" ] ], "xref": [ "UMLS:C4023712" ], "is_a": [ "HP:0010756", "HP:0040008" ], "is_obsolete": "", "replace_id": "" }, "HP:0010758": { "name": [ "abnormality of the premaxilla", "abnormality of the premaxilla" ], "alt_id": [], "def": "An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.", "synonym": [ [ "abnormality of the intermaxillary bone", "abnormality of the intermaxillary bone" ], [ "abnormality of the intermaxillary segment of the maxilla", "abnormality of the intermaxillary segment of the maxilla" ], [ "abnormality of the premaxillary bone", "abnormality of the premaxillary bone" ], [ "abnormality of the primary palate bone", "abnormality of the primary palate bone" ] ], "xref": [ "UMLS:C4023711" ], "is_a": [ "HP:0000326" ], "is_obsolete": "", "replace_id": "" }, "HP:0010759": { "name": [ "prominence of the premaxilla", "prominence of the premaxilla" ], "alt_id": [], "def": "Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.", "synonym": [ [ "anterior position of the premaxilla", "anterior position of the premaxilla" ], [ "anterior position of the primary palate bone", "anterior position of the primary palate bone" ], [ "premaxillary bone excess", "premaxillary bone excess" ], [ "prominence of the intermaxillary bone", "prominence of the intermaxillary bone" ], [ "prominence of the primary palate bone", "prominence of the primary palate bone" ] ], "xref": [ "UMLS:C2749369" ], "is_a": [ "HP:0010758" ], "is_obsolete": "", "replace_id": "" }, "HP:0010760": { "name": [ "absent toe", "absent toe" ], "alt_id": [ "HP:0008084", "HP:0010108", "HP:0011306" ], "def": "Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.", "synonym": [ [ "absent toe", "absent toe" ], [ "absent toes", "absent toe" ], [ "aplasia of the toes", "aplasia of the toe" ], [ "aplasia of toe", "aplasia of toe" ] ], "xref": [ "UMLS:C3553754" ], "is_a": [ "HP:0001991" ], "is_obsolete": "", "replace_id": "" }, "HP:0010761": { "name": [ "broad columella", "broad columella" ], "alt_id": [], "def": "Increased width of the columella.", "synonym": [ [ "columella , broad", "columella , broad" ], [ "columella , wide", "columella , wide" ], [ "fullness of columella", "fullness of columella" ], [ "hyperplasia of columella", "hyperplasia of columella" ], [ "increased width of columella", "increase width of columella" ] ], "xref": [ "UMLS:C1851059", "UMLS:C4280365" ], "is_a": [ "HP:0009929" ], "is_obsolete": "", "replace_id": "" }, "HP:0010762": { "name": [ "chordoma", "chordoma" ], "alt_id": [], "def": "A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis.", "synonym": [], "xref": [ "MSH:D002817", "NCIT:C2947", "SNOMEDCT_US:50007008", "UMLS:C0008487" ], "is_a": [ "HP:0010622" ], "is_obsolete": "", "replace_id": "" }, "HP:0010763": { "name": [ "low insertion of columella", "low insertion of columella" ], "alt_id": [], "def": "Insertion of the posterior columella below the nasal base.", "synonym": [ [ "ala higher than columella", "ala high than columella" ], [ "columella , low insertion", "columella , low insertion" ] ], "xref": [ "UMLS:C4021229", "UMLS:C4280364" ], "is_a": [ "HP:0009929" ], "is_obsolete": "", "replace_id": "" }, "HP:0010764": { "name": [ "short eyelashes", "short eyelash" ], "alt_id": [], "def": "Decreased length of the eyelashes (subjective).", "synonym": [ [ "decreased length of eyelashes", "decreased length of eyelash" ], [ "short eyelashes", "short eyelash" ] ], "xref": [ "UMLS:C2748682" ], "is_a": [ "HP:0000499" ], "is_obsolete": "", "replace_id": "" }, "HP:0010765": { "name": [ "palmar hyperkeratosis", "palmar hyperkeratosis" ], "alt_id": [], "def": "Abnormal thickening of the skin localized to the palm of the hand.", "synonym": [], "xref": [ "UMLS:C4023710" ], "is_a": [ "HP:0000962", "HP:0040211" ], "is_obsolete": "", "replace_id": "" }, "HP:0010766": { "name": [ "ectopic calcification", "ectopic calcification" ], "alt_id": [], "def": "Deposition of calcium salts in a tissue or location in which calcification does not normally occur.", "synonym": [], "xref": [ "UMLS:C3806226" ], "is_a": [ "HP:0000924" ], "is_obsolete": "", "replace_id": "" }, "HP:0010767": { "name": [ "sacrococcygeal pilonidal abnormality", "sacrococcygeal pilonidal abnormality" ], "alt_id": [], "def": "The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds.", "synonym": [], "xref": [ "UMLS:C4023709" ], "is_a": [ "HP:0005107" ], "is_obsolete": "", "replace_id": "" }, "HP:0010769": { "name": [ "pilonidal sinus", "pilonidal sinus" ], "alt_id": [ "HP:0010768" ], "def": "A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.", "synonym": [ [ "pilonidal cyst", "pilonidal cyst" ] ], "xref": [ "MSH:D010864", "SNOMEDCT_US:47639008", "UMLS:C0031925" ], "is_a": [ "HP:0010767" ], "is_obsolete": "", "replace_id": "" }, "HP:0010770": { "name": [ "pilonidal fistula", "pilonidal fistula" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D010864", "SNOMEDCT_US:47639008", "UMLS:C0031925" ], "is_a": [ "HP:0010767" ], "is_obsolete": "", "replace_id": "" }, "HP:0010771": { "name": [ "pilonidal abscess", "pilonidal abscess" ], "alt_id": [], "def": "A hair-containing cyst or sinus usually in the coccygeal region.", "synonym": [ [ "sacrococcygeal fistula", "sacrococcygeal fistula" ] ], "xref": [ "SNOMEDCT_US:85224001", "UMLS:C3537055" ], "is_a": [ "HP:0010767", "HP:0031292" ], "is_obsolete": "", "replace_id": "" }, "HP:0010772": { "name": [ "anomalous pulmonary venous return", "anomalous pulmonary venous return" ], "alt_id": [], "def": "A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.", "synonym": [], "xref": [ "MSH:D012587", "SNOMEDCT_US:111323005", "SNOMEDCT_US:39905002", "UMLS:C0036400" ], "is_a": [ "HP:0030968" ], "is_obsolete": "", "replace_id": "" }, "HP:0010773": { "name": [ "partial anomalous pulmonary venous return", "partial anomalous pulmonary venous return" ], "alt_id": [], "def": "A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung.", "synonym": [ [ "partial anomalous pulmonary venous connection", "partial anomalous pulmonary venous connection" ] ], "xref": [ "Fyler:2030", "SNOMEDCT_US:68237008", "UMLS:C0158634" ], "is_a": [ "HP:0010772" ], "is_obsolete": "", "replace_id": "" }, "HP:0010774": { "name": [ "cor triatriatum", "cor triatriatum" ], "alt_id": [], "def": "The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name).", "synonym": [ [ "triatrial heart", "triatrial heart" ] ], "xref": [ "Fyler:3031", "ICD-10:Q24.2", "UMLS:C4023708" ], "is_a": [ "HP:0005120" ], "is_obsolete": "", "replace_id": "" }, "HP:0010775": { "name": [ "vascular ring", "vascular ring" ], "alt_id": [], "def": "A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.", "synonym": [ [ "vascular ring of aorta", "vascular ring of aorta" ] ], "xref": [ "Fyler:2760", "SNOMEDCT_US:110409004", "SNOMEDCT_US:66403007", "UMLS:C0221214" ], "is_a": [ "HP:0011587" ], "is_obsolete": "", "replace_id": "" }, "HP:0010776": { "name": [ "tracheobronchmegaly", "tracheobronchmegaly" ], "alt_id": [], "def": "Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection.", "synonym": [], "xref": [ "UMLS:C4023707" ], "is_a": [ "HP:0010777", "HP:0010778" ], "is_obsolete": "", "replace_id": "" }, "HP:0010777": { "name": [ "bronchomegaly", "bronchomegaly" ], "alt_id": [], "def": "Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection.", "synonym": [], "xref": [ "UMLS:C4023706" ], "is_a": [ "HP:0025426" ], "is_obsolete": "", "replace_id": "" }, "HP:0010778": { "name": [ "tracheomegaly", "tracheomegaly" ], "alt_id": [], "def": "Marked widening of the trachea.", "synonym": [], "xref": [ "UMLS:C4023705" ], "is_a": [ "HP:0002778" ], "is_obsolete": "", "replace_id": "" }, "HP:0010779": { "name": [ "large pelvis bone", "large pelvis bone" ], "alt_id": [], "def": "The presence of an abnormally large pelvis.", "synonym": [ [ "large pelvis", "large pelvis" ], [ "large pelvis bone", "large pelvis bone" ] ], "xref": [ "UMLS:C4019074", "UMLS:C4072882" ], "is_a": [ "HP:0040163" ], "is_obsolete": "", "replace_id": "" }, "HP:0010780": { "name": [ "hyperacusis", "hyperacusis" ], "alt_id": [], "def": "Over-sensitivity to certain frequency ranges of sound.", "synonym": [ [ "loudness intolerance", "loudness intolerance" ], [ "sensitivity to noise", "sensitivity to noise" ] ], "xref": [ "MSH:D012001", "SNOMEDCT_US:194399009", "SNOMEDCT_US:25289003", "UMLS:C0034880" ], "is_a": [ "HP:0025112" ], "is_obsolete": "", "replace_id": "" }, "HP:0010781": { "name": [ "skin dimple", "skin dimple" ], "alt_id": [], "def": "Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.", "synonym": [ [ "skin dimples", "skin dimple" ] ], "xref": [ "SNOMEDCT_US:301854006", "UMLS:C0578531" ], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0010782": { "name": [ "shoulder dimple", "shoulder dimple" ], "alt_id": [], "def": "A subtype of skin dimples occurring in the shoulder region.", "synonym": [ [ "acromial dimple", "acromial dimple" ], [ "bi - acromial dimples", "bi - acromial dimple" ], [ "shoulder dimples", "shoulder dimple" ] ], "xref": [ "UMLS:C4023704" ], "is_a": [ "HP:0010781" ], "is_obsolete": "", "replace_id": "" }, "HP:0010783": { "name": [ "erythema", "erythema" ], "alt_id": [], "def": "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.", "synonym": [ [ "redness of skin or mucous membrane", "redness of skin or mucous membrane" ] ], "xref": [ "MSH:D004890", "MSH:D005483", "SNOMEDCT_US:20255002", "SNOMEDCT_US:238810007", "SNOMEDCT_US:247441003", "SNOMEDCT_US:271811009", "SNOMEDCT_US:444827008", "SNOMEDCT_US:70819003", "SNOMEDCT_US:86735004", "UMLS:C0016382", "UMLS:C0041834" ], "is_a": [ "HP:0011276" ], "is_obsolete": "", "replace_id": "" }, "HP:0010784": { "name": [ "uterine neoplasm", "uterine neoplasm" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the uterus.", "synonym": [ [ "uterine cancer", "uterine cancer" ], [ "uterine neoplasia", "uterine neoplasia" ], [ "uterine tumor", "uterine tumor" ], [ "uterine tumour", "uterine tumour" ] ], "xref": [ "MSH:D014594", "NCIT:C3262", "SNOMEDCT_US:126908007", "UMLS:C0042138" ], "is_a": [ "HP:0031105", "HP:0033020" ], "is_obsolete": "", "replace_id": "" }, "HP:0010785": { "name": [ "gonadal neoplasm", "gonadal neoplasm" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of a gonad.", "synonym": [ [ "gonadal neoplasia", "gonadal neoplasia" ] ], "xref": [ "NCIT:C3262", "UMLS:C4021228" ], "is_a": [ "HP:0010787" ], "is_obsolete": "", "replace_id": "" }, "HP:0010786": { "name": [ "urinary tract neoplasm", "urinary tract neoplasm" ], "alt_id": [], "def": "The presence of a neoplasm of the urinary system.", "synonym": [ [ "urinary tract neoplasia", "urinary tract neoplasia" ] ], "xref": [ "MSH:D014571", "NCIT:C3262", "SNOMEDCT_US:126879004", "SNOMEDCT_US:254913005", "UMLS:C0042076" ], "is_a": [ "HP:0007379" ], "is_obsolete": "", "replace_id": "" }, "HP:0010787": { "name": [ "genital neoplasm", "genital neoplasm" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the genital system.", "synonym": [ [ "genital neoplasia", "genital neoplasia" ], [ "genital tumor", "genital tumor" ], [ "genital tumour", "genital tumour" ] ], "xref": [ "NCIT:C3262", "UMLS:C0679347", "UMLS:C4020767" ], "is_a": [ "HP:0000078", "HP:0007379" ], "is_obsolete": "", "replace_id": "" }, "HP:0010788": { "name": [ "testicular neoplasm", "testicular neoplasm" ], "alt_id": [], "def": "The presence of a neoplasm of the testis.", "synonym": [ [ "testicular cancer", "testicular cancer" ], [ "testicular neoplasia", "testicular neoplasia" ], [ "testicular tumor", "testicular tumor" ], [ "testicular tumour", "testicular tumour" ] ], "xref": [ "MSH:D013736", "NCIT:C3262", "SNOMEDCT_US:126900000", "UMLS:C0039590" ], "is_a": [ "HP:0000035", "HP:0010785", "HP:0100848" ], "is_obsolete": "", "replace_id": "" }, "HP:0010789": { "name": [ "abnormality of the leydig cells", "abnormality of the leydig cell" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023703" ], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0010790": { "name": [ "hyoplasia of the leydig cells", "hyoplasia of the leydig cell" ], "alt_id": [], "def": "Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.", "synonym": [], "xref": [ "UMLS:C4023702" ], "is_a": [ "HP:0010789" ], "is_obsolete": "", "replace_id": "" }, "HP:0010791": { "name": [ "hyperplasia of the leydig cells", "hyperplasia of the leydig cell" ], "alt_id": [], "def": "Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.", "synonym": [], "xref": [ "SNOMEDCT_US:76085008", "UMLS:C0023600" ], "is_a": [ "HP:0010789" ], "is_obsolete": "", "replace_id": "" }, "HP:0010793": { "name": [ "bifid nail", "bifid nail" ], "alt_id": [], "def": "A digit with two nails, with at least some soft tissue between them.", "synonym": [ [ "duplicated nail", "duplicate nail" ], [ "notched nail", "notch nail" ] ], "xref": [ "SNOMEDCT_US:110992006", "UMLS:C0544857" ], "is_a": [ "HP:0002164" ], "is_obsolete": "", "replace_id": "" }, "HP:0010794": { "name": [ "impaired visuospatial constructive cognition", "impaired visuospatial constructive cognition" ], "alt_id": [], "def": "Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities).", "synonym": [], "xref": [ "UMLS:C4023701" ], "is_a": [ "HP:0001328" ], "is_obsolete": "", "replace_id": "" }, "HP:0010795": { "name": [ "cerebellar glioma", "cerebellar glioma" ], "alt_id": [], "def": "A glioma affecting the cerebellum.", "synonym": [], "xref": [ "UMLS:C4023700" ], "is_a": [ "HP:0009733" ], "is_obsolete": "", "replace_id": "" }, "HP:0010796": { "name": [ "brainstem glioma", "brainstem glioma" ], "alt_id": [], "def": "A glioma affecting the brainstem.", "synonym": [], "xref": [ "SNOMEDCT_US:444545003", "UMLS:C0677865" ], "is_a": [ "HP:0009733" ], "is_obsolete": "", "replace_id": "" }, "HP:0010797": { "name": [ "hemangioblastoma", "hemangioblastoma" ], "alt_id": [], "def": "A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter.", "synonym": [ [ "haemangioblastoma", "haemangioblastoma" ] ], "xref": [ "MSH:D018325", "NCIT:C3801", "SNOMEDCT_US:81201000", "UMLS:C0206734" ], "is_a": [ "HP:0100835" ], "is_obsolete": "", "replace_id": "" }, "HP:0010798": { "name": [ "lip freckle", "lip freckle" ], "alt_id": [], "def": "Increased focal pigmentation of the vermilion of the lips.", "synonym": [ [ "ephelis of lip", "ephelis of lip" ], [ "labial lentigo", "labial lentigo" ], [ "lip freckle", "lip freckle" ], [ "lip lentigo", "lip lentigo" ] ], "xref": [ "SNOMEDCT_US:239136007", "UMLS:C0406814" ], "is_a": [ "HP:0000159" ], "is_obsolete": "", "replace_id": "" }, "HP:0010799": { "name": [ "pinealoma", "pinealoma" ], "alt_id": [], "def": "A neoplasm of the pineal gland.", "synonym": [], "xref": [ "MSH:D010871", "NCIT:C3328", "SNOMEDCT_US:127026004", "SNOMEDCT_US:359619007", "SNOMEDCT_US:47598005", "UMLS:C0031941" ], "is_a": [ "HP:0030063", "HP:0030693" ], "is_obsolete": "", "replace_id": "" }, "HP:0010800": { "name": [ "absent cupid 's bow", "absent cupid 's bow" ], "alt_id": [], "def": "Lack of paramedian peaks and median notch of the upper lip vermilion.", "synonym": [ [ "absent cupid 's bow", "absent cupid 's bow" ], [ "agenesis of cupid 's bow", "agenesis of cupid 's bow" ], [ "aplasia of cupid 's bow", "aplasia of cupid 's bow" ], [ "failure of development of cupid 's bow", "failure of development of cupid 's bow" ], [ "lack of cupid 's bow", "lack of cupid 's bow" ], [ "missing cupid 's bow", "miss cupid 's bow" ] ], "xref": [ "UMLS:C2053435" ], "is_a": [ "HP:0011339" ], "is_obsolete": "", "replace_id": "" }, "HP:0010801": { "name": [ "underdeveloped nasolabial fold", "underdeveloped nasolabial fold" ], "alt_id": [], "def": "Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure).", "synonym": [ [ "flat nasolabial fold", "flat nasolabial fold" ], [ "nasolabial crease , hypoplastic", "nasolabial crease , hypoplastic" ], [ "nasolabial crease , underdeveloped", "nasolabial crease , underdevelop" ], [ "nasolabial fold , hypoplastic", "nasolabial fold , hypoplastic" ], [ "shallow nasolabial fold", "shallow nasolabial fold" ] ], "xref": [ "UMLS:C4021227" ], "is_a": [ "HP:0005289" ], "is_obsolete": "", "replace_id": "" }, "HP:0010802": { "name": [ "perioral hyperpigmentation", "perioral hyperpigmentation" ], "alt_id": [], "def": "Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.", "synonym": [ [ "darkening of skin around the mouth", "darkening of skin around the mouth" ], [ "increased pigmentation around the mouth", "increase pigmentation around the mouth" ] ], "xref": [ "UMLS:C4023699" ], "is_a": [ "HP:0001000" ], "is_obsolete": "", "replace_id": "" }, "HP:0010803": { "name": [ "everted upper lip vermilion", "evert upper lip vermilion" ], "alt_id": [], "def": "Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.", "synonym": [ [ "drooping upper lip", "droop upper lip" ], [ "eclabium of upper lip", "eclabium of upper lip" ], [ "everted prominent upper lip", "evert prominent upper lip" ], [ "everted upper lip", "evert upper lip" ], [ "outward turned upper lip", "outward turn upper lip" ], [ "protruding upper lip", "protrude upper lip" ] ], "xref": [ "UMLS:C3275452", "UMLS:C4023698", "UMLS:C4280363" ], "is_a": [ "HP:0011339", "HP:0012472" ], "is_obsolete": "", "replace_id": "" }, "HP:0010804": { "name": [ "tented upper lip vermilion", "tent upper lip vermilion" ], "alt_id": [ "HP:0100895" ], "def": "Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.", "synonym": [ [ "inverted v - shaped upper lip", "invert v - shape upper lip" ], [ "tented mouth", "tent mouth" ], [ "tented upper lip", "tent upper lip" ] ], "xref": [ "UMLS:C1839767", "UMLS:C1850072", "UMLS:C1853383" ], "is_a": [ "HP:0011339" ], "is_obsolete": "", "replace_id": "" }, "HP:0010805": { "name": [ "upturned corners of mouth", "upturned corner of mouth" ], "alt_id": [], "def": "Oral commissures positioned superior to the midline labial fissure.", "synonym": [ [ "upturned corners of mouth", "upturned corner of mouth" ], [ "upturned mouth", "upturned mouth" ], [ "upturned oral commisures", "upturned oral commisures" ] ], "xref": [ "UMLS:C3553471" ], "is_a": [ "HP:0011338" ], "is_obsolete": "", "replace_id": "" }, "HP:0010806": { "name": [ "u - shaped upper lip vermilion", "u - shape upper lip vermilion" ], "alt_id": [ "HP:0000186" ], "def": "Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.", "synonym": [ [ "carp - like mouth", "carp - like mouth" ], [ "carp - shaped mouth", "carp - shape mouth" ], [ "fish mouth", "fish mouth" ], [ "large , carp - shaped mouth", "large , carp - shape mouth" ], [ "wide , carp - shaped mouth", "wide , carp - shape mouth" ] ], "xref": [ "UMLS:C1856202" ], "is_a": [ "HP:0011339" ], "is_obsolete": "", "replace_id": "" }, "HP:0010807": { "name": [ "open bite", "open bite" ], "alt_id": [], "def": "Visible space between the dental arches in occlusion.", "synonym": [ [ "absence of overlap of upper and lower teeth", "absence of overlap of upper and low teeth" ], [ "open bite", "open bite" ], [ "open bite between upper and lower teeth", "open bite between upper and low teeth" ] ], "xref": [ "MSH:D024343", "SNOMEDCT_US:35580009", "UMLS:C0266061" ], "is_a": [ "HP:0000692" ], "is_obsolete": "", "replace_id": "" }, "HP:0010808": { "name": [ "protruding tongue", "protrude tongue" ], "alt_id": [], "def": "Tongue extending beyond the alveolar ridges or teeth at rest.", "synonym": [ [ "lingual prolapse", "lingual prolapse" ], [ "lingual prominence", "lingual prominence" ], [ "lingual protrusion", "lingual protrusion" ], [ "prolapse of tongue", "prolapse of tongue" ], [ "prominent tongue", "prominent tongue" ], [ "protruding tongue", "protrude tongue" ], [ "tongue protrusion", "tongue protrusion" ], [ "tongue sticking out of mouth", "tongue stick out of mouth" ] ], "xref": [ "SNOMEDCT_US:249872000", "SNOMEDCT_US:285503005", "UMLS:C0241442" ], "is_a": [ "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0010809": { "name": [ "broad uvula", "broad uvula" ], "alt_id": [], "def": "Increased width of the uvula (subjective finding).", "synonym": [ [ "wide uvula", "wide uvula" ] ], "xref": [ "UMLS:C3693299" ], "is_a": [ "HP:0000172" ], "is_obsolete": "", "replace_id": "" }, "HP:0010810": { "name": [ "long uvula", "long uvula" ], "alt_id": [], "def": "Increased length of the uvula.", "synonym": [ [ "elongated uvula", "elongate uvula" ], [ "hyperplasia of uvula", "hyperplasia of uvula" ], [ "long palatine uvula", "long palatine uvula" ] ], "xref": [ "UMLS:C4023697", "UMLS:C4280362" ], "is_a": [ "HP:0000172" ], "is_obsolete": "", "replace_id": "" }, "HP:0010811": { "name": [ "narrow uvula", "narrow uvula" ], "alt_id": [], "def": "Decreased width of the uvula.", "synonym": [ [ "narrow palatine uvula", "narrow palatine uvula" ], [ "thin uvula", "thin uvula" ] ], "xref": [ "UMLS:C4023696" ], "is_a": [ "HP:0000172" ], "is_obsolete": "", "replace_id": "" }, "HP:0010812": { "name": [ "short uvula", "short uvula" ], "alt_id": [], "def": "Decreased length of the uvula.", "synonym": [ [ "blunt uvula", "blunt uvula" ], [ "hypoplastic uvula", "hypoplastic uvula" ], [ "short palatine uvula", "short palatine uvula" ] ], "xref": [ "UMLS:C1401781" ], "is_a": [ "HP:0010293" ], "is_obsolete": "", "replace_id": "" }, "HP:0010813": { "name": [ "abnormal number of hair whorls", "abnormal number of hair whorl" ], "alt_id": [], "def": "More than two clockwise hair whorls.", "synonym": [ [ "abnormal number of hair swirls", "abnormal number of hair swirl" ], [ "abnormal number of hair whorls", "abnormal number of hair whorl" ], [ "double crown ( hair whorls )", "double crown ( hair whorl )" ], [ "extra hair swirls", "extra hair swirl" ], [ "extra hair whorl", "extra hair whorl" ], [ "supernumary hair swirls", "supernumary hair swirl" ], [ "supernumary hair whorl", "supernumary hair whorl" ] ], "xref": [ "UMLS:C4023695" ], "is_a": [ "HP:0010721" ], "is_obsolete": "", "replace_id": "" }, "HP:0010814": { "name": [ "abnormal position of hair whorl", "abnormal position of hair whorl" ], "alt_id": [], "def": "Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull.", "synonym": [ [ "abnormal location of hair swirl", "abnormal location of hair swirl" ], [ "abnormal position of hair whorl", "abnormal position of hair whorl" ] ], "xref": [ "UMLS:C4023694" ], "is_a": [ "HP:0010721" ], "is_obsolete": "", "replace_id": "" }, "HP:0010815": { "name": [ "nevus sebaceous", "nevus sebaceous" ], "alt_id": [], "def": "A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly.", "synonym": [ [ "naevus sebaceous", "naevus sebaceous" ], [ "organoid nevus", "organoid nevus" ], [ "sebaceous mole", "sebaceous mole" ], [ "sebaceous naevus", "sebaceous naevus" ], [ "sebaceous nevus", "sebaceous nevus" ] ], "xref": [ "MSH:D054000", "SNOMEDCT_US:239112008", "SNOMEDCT_US:52298009", "SNOMEDCT_US:707136009", "UMLS:C3854181" ], "is_a": [ "HP:0010816" ], "is_obsolete": "", "replace_id": "" }, "HP:0010816": { "name": [ "epidermal nevus", "epidermal nevus" ], "alt_id": [], "def": "Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood.", "synonym": [ [ "epidermal nevi", "epidermal nevus" ] ], "xref": [ "MSH:C580062", "SNOMEDCT_US:239107007", "SNOMEDCT_US:25201003", "UMLS:C0334082" ], "is_a": [ "HP:0003764" ], "is_obsolete": "", "replace_id": "" }, "HP:0010817": { "name": [ "linear nevus sebaceous", "linear nevus sebaceous" ], "alt_id": [], "def": "A type of nevus sebaceous with a linear form, raised borders and yellowish color.", "synonym": [], "xref": [ "MSH:D054000", "SNOMEDCT_US:239112008", "SNOMEDCT_US:52298009", "SNOMEDCT_US:707136009", "UMLS:C3854181" ], "is_a": [ "HP:0010815" ], "is_obsolete": "", "replace_id": "" }, "HP:0010818": { "name": [ "generalized tonic seizure", "generalize tonic seizure" ], "alt_id": [ "HP:0002184" ], "def": "A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.", "synonym": [ [ "generalised hypertonic seizure", "generalise hypertonic seizure" ], [ "generalised tonic seizure", "generalise tonic seizure" ], [ "generalised tonic seizures", "generalise tonic seizure" ], [ "generalized hypertonic seizure", "generalize hypertonic seizure" ], [ "generalized tonic seizures", "generalize tonic seizure" ], [ "hypertonic seizures", "hypertonic seizure" ] ], "xref": [ "UMLS:C1836508" ], "is_a": [ "HP:0032677", "HP:0032792" ], "is_obsolete": "", "replace_id": "" }, "HP:0010819": { "name": [ "atonic seizure", "atonic seizure" ], "alt_id": [ "HP:0002124" ], "def": "Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.", "synonym": [ [ "astatic seizure", "astatic seizure" ], [ "astatic seizures", "astatic seizure" ], [ "atonic seizures", "atonic seizure" ], [ "drop attacks", "drop attack" ], [ "drop seizures", "drop seizure" ], [ "hypotonic seizure", "hypotonic seizure" ], [ "hypotonic seizures", "hypotonic seizure" ], [ "sudden loss of muscle tone", "sudden loss of muscle tone" ] ], "xref": [ "SNOMEDCT_US:189198006", "SNOMEDCT_US:42365007", "UMLS:C0270846", "UMLS:C1836509" ], "is_a": [ "HP:0020219" ], "is_obsolete": "", "replace_id": "" }, "HP:0010820": { "name": [ "focal emotional seizure with crying", "focal emotional seizure with cry" ], "alt_id": [], "def": "Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present.", "synonym": [ [ "dacrystic seizure", "dacrystic seizure" ], [ "dacrystic seizures", "dacrystic seizure" ] ], "xref": [ "UMLS:C4023693" ], "is_a": [ "HP:0025613" ], "is_obsolete": "", "replace_id": "" }, "HP:0010821": { "name": [ "focal emotional seizure with laughing", "focal emotional seizure with laugh" ], "alt_id": [], "def": "Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'.", "synonym": [ [ "gelastic seizure", "gelastic seizure" ], [ "gelastic seizures", "gelastic seizure" ] ], "xref": [ "MSH:D004828", "SNOMEDCT_US:89525009", "UMLS:C0270820" ], "is_a": [ "HP:0025613" ], "is_obsolete": "", "replace_id": "" }, "HP:0010822": { "name": [ "scintillating scotoma", "scintillate scotoma" ], "alt_id": [], "def": "A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights.", "synonym": [], "xref": [ "MSH:D012607", "SNOMEDCT_US:2228002", "UMLS:C0235068" ], "is_a": [ "HP:0000575" ], "is_obsolete": "", "replace_id": "" }, "HP:0010823": { "name": [ "ridged cranial sutures", "ridge cranial suture" ], "alt_id": [], "def": "An overlap of the bony plates of the skull in an infant, with or without early closure.", "synonym": [ [ "cranial suture ridges", "cranial suture ridge" ] ], "xref": [ "UMLS:C4023692" ], "is_a": [ "HP:0011329" ], "is_obsolete": "", "replace_id": "" }, "HP:0010824": { "name": [ "abnormal fifth cranial nerve morphology", "abnormal fifth cranial nerve morphology" ], "alt_id": [], "def": "Any structural abormality of the fifth cranial nerve.", "synonym": [ [ "abnormal trigeminal nerve morphology", "abnormal trigeminal nerve morphology" ], [ "abnormality of the fifth cranial nerve", "abnormality of the fifth cranial nerve" ], [ "abnormality of the nervus trigeminus", "abnormality of the nervus trigeminus" ] ], "xref": [ "UMLS:C4021226" ], "is_a": [ "HP:0001291" ], "is_obsolete": "", "replace_id": "" }, "HP:0010825": { "name": [ "abnormality of the eleventh cranial nerve", "abnormality of the eleventh cranial nerve" ], "alt_id": [], "def": "Abnormality of the eleventh cranial nerve.", "synonym": [ [ "abnormality of cranial nerve xi", "abnormality of cranial nerve xi" ], [ "abnormality of the accessory nerve", "abnormality of the accessory nerve" ] ], "xref": [ "UMLS:C4021225" ], "is_a": [ "HP:0001291" ], "is_obsolete": "", "replace_id": "" }, "HP:0010826": { "name": [ "abnormality of the twelfth cranial nerve", "abnormality of the twelfth cranial nerve" ], "alt_id": [], "def": "Abnormality of the twelfth cranial nerve.", "synonym": [ [ "abnormality of cranial nerve 12", "abnormality of cranial nerve 12" ], [ "abnormality of cranial nerve xii", "abnormality of cranial nerve xii" ], [ "abnormality of the hypoglossal nerve", "abnormality of the hypoglossal nerve" ] ], "xref": [ "UMLS:C4021224" ], "is_a": [ "HP:3000075" ], "is_obsolete": "", "replace_id": "" }, "HP:0010827": { "name": [ "abnormality of the seventh cranial nerve", "abnormality of the seventh cranial nerve" ], "alt_id": [], "def": "Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.", "synonym": [ [ "abnormality of the facial nerve", "abnormality of the facial nerve" ] ], "xref": [ "UMLS:C4021223" ], "is_a": [ "HP:0001291" ], "is_obsolete": "", "replace_id": "" }, "HP:0010828": { "name": [ "hemifacial spasm", "hemifacial spasm" ], "alt_id": [], "def": "Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.", "synonym": [ [ "hemifacial spasms", "hemifacial spasm" ], [ "spasms on one side of the face", "spasm on one side of the face" ] ], "xref": [ "MSH:D019569", "SNOMEDCT_US:13753008", "UMLS:C0278152" ], "is_a": [ "HP:0003739" ], "is_obsolete": "", "replace_id": "" }, "HP:0010829": { "name": [ "impaired temperature sensation", "impaired temperature sensation" ], "alt_id": [ "HP:0006901", "HP:0100772" ], "def": "A reduced ability to discriminate between different temperatures.", "synonym": [ [ "abnormality of temperature sensation", "abnormality of temperature sensation" ], [ "impaired temperature sensation", "impaired temperature sensation" ], [ "impaired thermal sensitivity", "impaired thermal sensitivity" ], [ "loss of temperature sensation", "loss of temperature sensation" ] ], "xref": [ "UMLS:C4021222" ], "is_a": [ "HP:0033747" ], "is_obsolete": "", "replace_id": "" }, "HP:0010830": { "name": [ "impaired tactile sensation", "impaired tactile sensation" ], "alt_id": [], "def": "A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.", "synonym": [ [ "abnormal thigmesthesia", "abnormal thigmesthesia" ], [ "impaired touch sensation", "impaired touch sensation" ], [ "loss of tactile sensation", "loss of tactile sensation" ] ], "xref": [ "UMLS:C4021221" ], "is_a": [ "HP:0033747" ], "is_obsolete": "", "replace_id": "" }, "HP:0010831": { "name": [ "impaired proprioception", "impaired proprioception" ], "alt_id": [ "HP:0010870" ], "def": "A loss or impairment of the sensation of the relative position of parts of the body and joint position.", "synonym": [ [ "abnormality of proprioception", "abnormality of proprioception" ] ], "xref": [ "UMLS:C1856691" ], "is_a": [ "HP:0003474" ], "is_obsolete": "", "replace_id": "" }, "HP:0010832": { "name": [ "abnormality of pain sensation", "abnormality of pain sensation" ], "alt_id": [], "def": "Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain.", "synonym": [], "xref": [ "UMLS:C4023691" ], "is_a": [ "HP:0033747" ], "is_obsolete": "", "replace_id": "" }, "HP:0010833": { "name": [ "spontaneous pain sensation", "spontaneous pain sensation" ], "alt_id": [], "def": "Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.", "synonym": [], "xref": [ "UMLS:C4023690" ], "is_a": [ "HP:0010832" ], "is_obsolete": "", "replace_id": "" }, "HP:0010834": { "name": [ "trophic changes related to pain", "trophic change relate to pain" ], "alt_id": [], "def": "Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails.", "synonym": [ [ "trophic changes", "trophic change" ] ], "xref": [ "UMLS:C4021220" ], "is_a": [ "HP:0010832" ], "is_obsolete": "", "replace_id": "" }, "HP:0010835": { "name": [ "dissociated sensory loss", "dissociated sensory loss" ], "alt_id": [], "def": "A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.", "synonym": [], "xref": [ "SNOMEDCT_US:87275002", "UMLS:C0278136" ], "is_a": [ "HP:0003474" ], "is_obsolete": "", "replace_id": "" }, "HP:0010836": { "name": [ "abnormal circulating copper concentration", "abnormal circulate copper concentration" ], "alt_id": [], "def": "An abnormal concentration of copper.", "synonym": [ [ "abnormal copper levels", "abnormal copper level" ] ], "xref": [ "UMLS:C4020766", "UMLS:C4023689" ], "is_a": [ "HP:0011030" ], "is_obsolete": "", "replace_id": "" }, "HP:0010837": { "name": [ "decreased circulating ceruloplasmin concentration", "decrease circulate ceruloplasmin concentration" ], "alt_id": [], "def": "Decreased concentration of ceruloplasmin in the blood.", "synonym": [ [ "decreased serum ceruloplasmin", "decrease serum ceruloplasmin" ], [ "decreased serum ceruloplasmina", "decrease serum ceruloplasmina" ], [ "hypoceruloplasminaemia", "hypoceruloplasminaemia" ], [ "hypoceruloplasminemia", "hypoceruloplasminemia" ] ], "xref": [ "UMLS:C0240997" ], "is_a": [ "HP:0033144" ], "is_obsolete": "", "replace_id": "" }, "HP:0010838": { "name": [ "high nonceruloplasmin - bound serum copper", "high nonceruloplasmin - bound serum copper" ], "alt_id": [], "def": "An increased concentration of non ceruloplasmin bound copper in the blood.", "synonym": [], "xref": [ "UMLS:C1848459" ], "is_a": [ "HP:0010836" ], "is_obsolete": "", "replace_id": "" }, "HP:0010839": { "name": [ "increased urinary copper concentration", "increase urinary copper concentration" ], "alt_id": [], "def": "An increased concentration of copper in the urine.", "synonym": [ [ "increased urinary copper concentration", "increase urinary copper concentration" ] ], "xref": [ "UMLS:C4023688" ], "is_a": [ "HP:0045036" ], "is_obsolete": "", "replace_id": "" }, "HP:0010841": { "name": [ "multifocal epileptiform discharges", "multifocal epileptiform discharge" ], "alt_id": [], "def": "An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).", "synonym": [ [ "multifocal eeg abnormality", "multifocal eeg abnormality" ] ], "xref": [ "UMLS:C4021219" ], "is_a": [ "HP:0011185" ], "is_obsolete": "", "replace_id": "" }, "HP:0010843": { "name": [ "eeg with focal slow activity", "eeg with focal slow activity" ], "alt_id": [], "def": "Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy).", "synonym": [ [ "eeg : focal slow activity", "eeg : focal slow activity" ], [ "eeg : localised slow activity", "eeg : localised slow activity" ], [ "eeg : localized slow activity", "eeg : localized slow activity" ] ], "xref": [ "UMLS:C4021218" ], "is_a": [ "HP:0011203" ], "is_obsolete": "", "replace_id": "" }, "HP:0010844": { "name": [ "eeg with multifocal slow activity", "eeg with multifocal slow activity" ], "alt_id": [], "def": "Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).", "synonym": [], "xref": [ "UMLS:C4023687" ], "is_a": [ "HP:0011203" ], "is_obsolete": "", "replace_id": "" }, "HP:0010845": { "name": [ "eeg with generalized slow activity", "eeg with generalized slow activity" ], "alt_id": [], "def": "Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).", "synonym": [ [ "eeg with generalised slow activity", "eeg with generalised slow activity" ], [ "eeg : generalised slow activity", "eeg : generalised slow activity" ], [ "eeg : generalized slow activity", "eeg : generalized slow activity" ] ], "xref": [ "UMLS:C4021217" ], "is_a": [ "HP:0011203" ], "is_obsolete": "", "replace_id": "" }, "HP:0010846": { "name": [ "eeg with persistent abnormal rhythmic activity", "eeg with persistent abnormal rhythmic activity" ], "alt_id": [], "def": "", "synonym": [ [ "eeg : persistent abnormal rhythmic activity", "eeg : persistent abnormal rhythmic activity" ] ], "xref": [ "UMLS:C4021216" ], "is_a": [ "HP:0011176" ], "is_obsolete": "", "replace_id": "" }, "HP:0010847": { "name": [ "eeg with spike - wave complexes ( < 2.5 hz )", "eeg with spike - wave complex ( < 2.5 hz )" ], "alt_id": [], "def": "The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).", "synonym": [ [ "electroencephalogram demonstrated spike - slow wave discharges", "electroencephalogram demonstrate spike - slow wave discharge" ] ], "xref": [ "UMLS:C4023686" ], "is_a": [ "HP:0010850" ], "is_obsolete": "", "replace_id": "" }, "HP:0010848": { "name": [ "eeg with spike - wave complexes ( 2.5 - 3.5 hz )", "eeg with spike - wave complex ( 2.5 - 3.5 hz )" ], "alt_id": [], "def": "The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).", "synonym": [], "xref": [ "UMLS:C4023685" ], "is_a": [ "HP:0010850" ], "is_obsolete": "", "replace_id": "" }, "HP:0010849": { "name": [ "eeg with spike - wave complexes ( > 3.5 hz )", "eeg with spike - wave complex ( > 3.5 hz )" ], "alt_id": [ "HP:0007261" ], "def": "The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).", "synonym": [ [ "eeg with 3 - 4 - hz spike waves", "eeg with 3 - 4 - hz spike wave" ] ], "xref": [ "UMLS:C4020765", "UMLS:C4023684" ], "is_a": [ "HP:0010850" ], "is_obsolete": "", "replace_id": "" }, "HP:0010850": { "name": [ "eeg with spike - wave complexes", "eeg with spike - wave complex" ], "alt_id": [], "def": "Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).", "synonym": [], "xref": [ "UMLS:C4023683" ], "is_a": [ "HP:0011198" ], "is_obsolete": "", "replace_id": "" }, "HP:0010851": { "name": [ "eeg with burst suppression", "eeg with burst suppression" ], "alt_id": [], "def": "The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.", "synonym": [], "xref": [ "UMLS:C1969156" ], "is_a": [ "HP:0011198" ], "is_obsolete": "", "replace_id": "" }, "HP:0010852": { "name": [ "eeg with photoparoxysmal response", "eeg with photoparoxysmal response" ], "alt_id": [ "HP:0001330" ], "def": "EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.", "synonym": [ [ "photoparoxysmal response on eeg", "photoparoxysmal response on eeg" ] ], "xref": [ "UMLS:C3552821" ], "is_a": [ "HP:0002353" ], "is_obsolete": "", "replace_id": "" }, "HP:0010853": { "name": [ "eeg with periodic lateralized epileptiform discharges", "eeg with periodic lateralize epileptiform discharge" ], "alt_id": [], "def": "Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds).", "synonym": [ [ "eeg : periodic lateralized epileptiform discharges", "eeg : periodic lateralized epileptiform discharge" ] ], "xref": [ "UMLS:C4021215" ], "is_a": [ "HP:0011186" ], "is_obsolete": "", "replace_id": "" }, "HP:0010854": { "name": [ "eeg with generalized low amplitude activity", "eeg with generalized low amplitude activity" ], "alt_id": [], "def": "An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).", "synonym": [ [ "eeg with generalised low amplitude activity", "eeg with generalised low amplitude activity" ], [ "eeg : generalised low amplitude activity", "eeg : generalise low amplitude activity" ] ], "xref": [ "UMLS:C4021214" ], "is_a": [ "HP:0011201" ], "is_obsolete": "", "replace_id": "" }, "HP:0010855": { "name": [ "eeg with localized low amplitude activity", "eeg with localized low amplitude activity" ], "alt_id": [], "def": "An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).", "synonym": [ [ "eeg with localised low amplitude activity", "eeg with localised low amplitude activity" ], [ "eeg : localised low amplitude activity", "eeg : localise low amplitude activity" ] ], "xref": [ "UMLS:C4021213" ], "is_a": [ "HP:0011201" ], "is_obsolete": "", "replace_id": "" }, "HP:0010856": { "name": [ "eeg with periodic complexes", "eeg with periodic complex" ], "alt_id": [], "def": "Periodically occurring generalized periodic complexes.", "synonym": [ [ "eeg : periodic complexes", "eeg : periodic complex" ], [ "radermecker complexes", "radermecker complex" ] ], "xref": [ "UMLS:C4021212" ], "is_a": [ "HP:0010857" ], "is_obsolete": "", "replace_id": "" }, "HP:0010857": { "name": [ "eeg with periodic abnormalities", "eeg with periodic abnormality" ], "alt_id": [], "def": "Periodically recurring abnormalities in the EEG.", "synonym": [ [ "eeg : periodic abnormalities", "eeg : periodic abnormality" ] ], "xref": [ "UMLS:C4021211" ], "is_a": [ "HP:0011200" ], "is_obsolete": "", "replace_id": "" }, "HP:0010858": { "name": [ "eeg with hyperventilation - induced epileptiform discharges", "eeg with hyperventilation - induced epileptiform discharge" ], "alt_id": [], "def": "Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).", "synonym": [], "xref": [ "UMLS:C4023682" ], "is_a": [ "HP:0011182" ], "is_obsolete": "", "replace_id": "" }, "HP:0010859": { "name": [ "frank breech presentation", "frank breech presentation" ], "alt_id": [], "def": "A kind of breech presentation in which the hips are flexed and the knees are extended.", "synonym": [], "xref": [ "MSH:D001946", "SNOMEDCT_US:18559007", "UMLS:C0233286" ], "is_a": [ "HP:0001623" ], "is_obsolete": "", "replace_id": "" }, "HP:0010860": { "name": [ "complete breech presentation", "complete breech presentation" ], "alt_id": [], "def": "A kind of breech presentation in which the hips are flexed and the knees are flexed.", "synonym": [], "xref": [ "MSH:D001946", "SNOMEDCT_US:49168004", "UMLS:C0233283" ], "is_a": [ "HP:0001623" ], "is_obsolete": "", "replace_id": "" }, "HP:0010861": { "name": [ "incomplete breech presentation", "incomplete breech presentation" ], "alt_id": [], "def": "A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal.", "synonym": [], "xref": [ "MSH:D001946", "SNOMEDCT_US:38049006", "UMLS:C0426146" ], "is_a": [ "HP:0001623" ], "is_obsolete": "", "replace_id": "" }, "HP:0010862": { "name": [ "delayed fine motor development", "delay fine motor development" ], "alt_id": [], "def": "A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.", "synonym": [], "xref": [ "UMLS:C4023681" ], "is_a": [ "HP:0001270" ], "is_obsolete": "", "replace_id": "" }, "HP:0010863": { "name": [ "receptive language delay", "receptive language delay" ], "alt_id": [], "def": "A delay in the acquisition of the ability to understand the speech of others.", "synonym": [], "xref": [ "SNOMEDCT_US:229736005", "UMLS:C0454642" ], "is_a": [ "HP:0000750" ], "is_obsolete": "", "replace_id": "" }, "HP:0010864": { "name": [ "intellectual disability , severe", "intellectual disability , severe" ], "alt_id": [ "HP:0007196" ], "def": "Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.", "synonym": [ [ "early and severe mental retardation", "early and severe mental retardation" ], [ "intellectual disability , severe", "intellectual disability , severe" ], [ "mental retardation , severe", "mental retardation , severe" ], [ "severe mental retardation", "severe mental retardation" ] ], "xref": [ "SNOMEDCT_US:40700009", "UMLS:C0036857" ], "is_a": [ "HP:0001249" ], "is_obsolete": "", "replace_id": "" }, "HP:0010865": { "name": [ "oppositional defiant disorder", "oppositional defiant disorder" ], "alt_id": [], "def": "An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents.", "synonym": [], "xref": [ "MSH:D019958", "SNOMEDCT_US:18941000", "UMLS:C0029121" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0010866": { "name": [ "abdominal wall defect", "abdominal wall defect" ], "alt_id": [], "def": "An incomplete closure of the abdominal wall.", "synonym": [ [ "abdominal wall defect", "abdominal wall defect" ], [ "congenital anterior abdominal wall defect", "congenital anterior abdominal wall defect" ] ], "xref": [ "UMLS:C0238577" ], "is_a": [ "HP:0004298" ], "is_obsolete": "", "replace_id": "" }, "HP:0010867": { "name": [ "dyssynergia", "dyssynergia" ], "alt_id": [], "def": "A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts.", "synonym": [], "xref": [ "MSH:D001259", "SNOMEDCT_US:20262006", "SNOMEDCT_US:39384006", "UMLS:C0004134" ], "is_a": [ "HP:0001251" ], "is_obsolete": "", "replace_id": "" }, "HP:0010868": { "name": [ "ocular dyssynergia", "ocular dyssynergia" ], "alt_id": [], "def": "A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field.", "synonym": [], "xref": [ "UMLS:C4023680" ], "is_a": [ "HP:0010867" ], "is_obsolete": "", "replace_id": "" }, "HP:0010869": { "name": [ "asynergia", "asynergia" ], "alt_id": [], "def": "A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed.", "synonym": [], "xref": [ "SNOMEDCT_US:77743009", "UMLS:C0234355" ], "is_a": [ "HP:0010867" ], "is_obsolete": "", "replace_id": "" }, "HP:0010871": { "name": [ "sensory ataxia", "sensory ataxia" ], "alt_id": [], "def": "Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.", "synonym": [ [ "afferent ataxia", "afferent ataxia" ], [ "ataxia , sensory", "ataxia , sensory" ], [ "spinal ataxia", "spinal ataxia" ] ], "xref": [ "MSH:D001259", "SNOMEDCT_US:445458007", "SNOMEDCT_US:69131009", "UMLS:C0037921", "UMLS:C0240991" ], "is_a": [ "HP:0010831" ], "is_obsolete": "", "replace_id": "" }, "HP:0010872": { "name": [ "t - wave inversion", "t - wave inversion" ], "alt_id": [], "def": "An inversion of the T-wave (which is normally positive).", "synonym": [ [ "ekg : t - wave inversion", "ekg : t - wave inversion" ] ], "xref": [ "SNOMEDCT_US:59931005", "UMLS:C0520888" ], "is_a": [ "HP:0005135" ], "is_obsolete": "", "replace_id": "" }, "HP:0010873": { "name": [ "cervical spinal cord atrophy", "cervical spinal cord atrophy" ], "alt_id": [], "def": "Atrophy of the cervical segment of the spinal cord.", "synonym": [], "xref": [ "UMLS:C0742191" ], "is_a": [ "HP:0006827" ], "is_obsolete": "", "replace_id": "" }, "HP:0010874": { "name": [ "tendon xanthomatosis", "tendon xanthomatosis" ], "alt_id": [], "def": "The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).", "synonym": [ [ "tendon xanthomas", "tendon xanthoma" ] ], "xref": [ "SNOMEDCT_US:69880002", "UMLS:C0221253" ], "is_a": [ "HP:0000991", "HP:0100261" ], "is_obsolete": "", "replace_id": "" }, "HP:0010875": { "name": [ "chaddock reflex", "chaddock reflex" ], "alt_id": [], "def": "A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract.", "synonym": [], "xref": [ "SNOMEDCT_US:413813004", "UMLS:C1531651" ], "is_a": [ "HP:0007256" ], "is_obsolete": "", "replace_id": "" }, "HP:0010876": { "name": [ "abnormal circulating protein concentration", "abnormal circulate protein concentration" ], "alt_id": [], "def": "An abnormal level of a circulating protein in the blood.", "synonym": [ [ "abnormal circulating protein level", "abnormal circulate protein level" ], [ "abnormality of circulating protein level", "abnormality of circulate protein level" ], [ "blood protein disease", "blood protein disease" ], [ "serum protein abnormality", "serum protein abnormality" ] ], "xref": [ "UMLS:C4020763", "UMLS:C4020764", "UMLS:C4023679" ], "is_a": [ "HP:0032180" ], "is_obsolete": "", "replace_id": "" }, "HP:0010877": { "name": [ "monocular strabismus", "monocular strabismus" ], "alt_id": [], "def": "A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times.", "synonym": [ [ "unilateral strabismus", "unilateral strabismus" ] ], "xref": [ "UMLS:C4023678" ], "is_a": [ "HP:0000486" ], "is_obsolete": "", "replace_id": "" }, "HP:0010878": { "name": [ "fetal cystic hygroma", "fetal cystic hygroma" ], "alt_id": [], "def": "The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm.", "synonym": [ [ "foetal cystic hygroma", "foetal cystic hygroma" ] ], "xref": [ "MSH:C537852", "UMLS:C0948242" ], "is_a": [ "HP:0000476", "HP:0010880" ], "is_obsolete": "", "replace_id": "" }, "HP:0010879": { "name": [ "postnatal cystic hygroma", "postnatal cystic hygroma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023677" ], "is_a": [ "HP:0000476" ], "is_obsolete": "", "replace_id": "" }, "HP:0010880": { "name": [ "increased nuchal translucency", "increase nuchal translucency" ], "alt_id": [], "def": "The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination).", "synonym": [], "xref": [ "UMLS:C4023676" ], "is_a": [ "HP:0000969", "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0010881": { "name": [ "abnormality of the umbilical cord", "abnormality of the umbilical cord" ], "alt_id": [], "def": "An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.", "synonym": [ [ "umbilical cord issue", "umbilical cord issue" ] ], "xref": [ "SNOMEDCT_US:90009001", "UMLS:C0266785" ], "is_a": [ "HP:0001194" ], "is_obsolete": "", "replace_id": "" }, "HP:0010882": { "name": [ "pulmonary valve atresia", "pulmonary valve atresia" ], "alt_id": [], "def": "A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.", "synonym": [], "xref": [ "Fyler:1001", "MSH:D018633", "SNOMEDCT_US:204342004", "SNOMEDCT_US:448564004", "UMLS:C0242855" ], "is_a": [ "HP:0001641" ], "is_obsolete": "", "replace_id": "" }, "HP:0010883": { "name": [ "aortic valve atresia", "aortic valve atresia" ], "alt_id": [], "def": "A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.", "synonym": [ [ "aortic atresia", "aortic atresia" ] ], "xref": [ "SNOMEDCT_US:51442005", "UMLS:C0265843" ], "is_a": [ "HP:0001646" ], "is_obsolete": "", "replace_id": "" }, "HP:0010884": { "name": [ "acromelia", "acromelia" ], "alt_id": [], "def": "Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.", "synonym": [], "xref": [ "UMLS:C4023675" ], "is_a": [ "HP:0009815" ], "is_obsolete": "", "replace_id": "" }, "HP:0010885": { "name": [ "avascular necrosis", "avascular necrosis" ], "alt_id": [], "def": "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.", "synonym": [ [ "aseptic bone necrosis", "aseptic bone necrosis" ], [ "aseptic necrosis", "aseptic necrosis" ], [ "bone infarction", "bone infarction" ], [ "death of bone due to decreased blood supply", "death of bone due to decreased blood supply" ], [ "ischaemic bone necrosis", "ischaemic bone necrosis" ], [ "ischemic bone necrosis", "ischemic bone necrosis" ], [ "osteochondronecrosis", "osteochondronecrosis" ], [ "osteonecrosis", "osteonecrosis" ] ], "xref": [ "MSH:D010020", "SNOMEDCT_US:240196003", "SNOMEDCT_US:398199007", "SNOMEDCT_US:72756009", "UMLS:C0029445", "UMLS:C0085660", "UMLS:C0520474", "UMLS:C0877326" ], "is_a": [ "HP:0011843" ], "is_obsolete": "", "replace_id": "" }, "HP:0010886": { "name": [ "osteochondritis dissecans", "osteochondritis dissecans" ], "alt_id": [], "def": "A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.", "synonym": [ [ "osteochondrosis dissecans", "osteochondrosis dissecans" ] ], "xref": [ "MSH:D010008", "SNOMEDCT_US:82562007", "UMLS:C0029421" ], "is_a": [ "HP:0040188" ], "is_obsolete": "", "replace_id": "" }, "HP:0010888": { "name": [ "morbus koehler", "morbus koehler" ], "alt_id": [], "def": "Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.", "synonym": [], "xref": [ "UMLS:C4023674" ], "is_a": [ "HP:0100323", "HP:0100339" ], "is_obsolete": "", "replace_id": "" }, "HP:0010889": { "name": [ "morbus kienboeck", "morbus kienboeck" ], "alt_id": [], "def": "Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.", "synonym": [ [ "kienboeck 's disease", "kienboeck 's disease" ], [ "kienb\u00f6ck 's disease", "kienb\u00f6ck 's disease" ], [ "lunatomalacia", "lunatomalacia" ] ], "xref": [ "MSH:D010020", "SNOMEDCT_US:360466009", "SNOMEDCT_US:367356000", "SNOMEDCT_US:84062004", "UMLS:C0022682" ], "is_a": [ "HP:0004248", "HP:0100323" ], "is_obsolete": "", "replace_id": "" }, "HP:0010890": { "name": [ "morbus osgood - schlatter", "morbus osgood - schlatter" ], "alt_id": [], "def": "Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae.", "synonym": [ [ "osgood schlatter disease", "osgood schlatter disease" ] ], "xref": [ "MSH:D055034", "SNOMEDCT_US:72047008", "SNOMEDCT_US:79353000", "UMLS:C0029376" ], "is_a": [ "HP:0002992", "HP:0100323" ], "is_obsolete": "", "replace_id": "" }, "HP:0010891": { "name": [ "morbus scheuermann", "morbus scheuermann" ], "alt_id": [], "def": "A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays).", "synonym": [ [ "calve disease", "calve disease" ], [ "juvenile osteochondrosis of the spine", "juvenile osteochondrosis of the spine" ], [ "scheuermann disease", "scheuermann disease" ], [ "scheuermann kyphosis", "scheuermann kyphosis" ], [ "sherman 's disease", "sherman 's disease" ] ], "xref": [ "MSH:D012544", "SNOMEDCT_US:53406005", "UMLS:C0036310" ], "is_a": [ "HP:0003468", "HP:0100323" ], "is_obsolete": "", "replace_id": "" }, "HP:0010892": { "name": [ "abnormal circulating branched chain amino acid concentration", "abnormal circulate branch chain amino acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023673" ], "is_a": [ "HP:0033107" ], "is_obsolete": "", "replace_id": "" }, "HP:0010893": { "name": [ "abnormal circulating phenylalanine concentration", "abnormal circulate phenylalanine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of phenylalanine in the blood circulation.", "synonym": [ [ "abnormality of phenylalanine metabolism", "abnormality of phenylalanine metabolism" ] ], "xref": [ "UMLS:C4023672" ], "is_a": [ "HP:0004338" ], "is_obsolete": "", "replace_id": "" }, "HP:0010894": { "name": [ "abnormal circulating serine family amino acid concentration", "abnormal circulate serine family amino acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a serine family amino acid in the blood circulation.", "synonym": [ [ "abnormality of serine family amino acid metabolism", "abnormality of serine family amino acid metabolism" ] ], "xref": [ "UMLS:C4023671" ], "is_a": [ "HP:0033107" ], "is_obsolete": "", "replace_id": "" }, "HP:0010895": { "name": [ "abnormal circulating glycine concentration", "abnormal circulate glycine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of glycine in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023670" ], "is_a": [ "HP:0010894" ], "is_obsolete": "", "replace_id": "" }, "HP:0010896": { "name": [ "hypersarcosinemia", "hypersarcosinemia" ], "alt_id": [], "def": "An elevated plasma concentration of sarcosine.", "synonym": [ [ "high plasma sarcosine levels", "high plasma sarcosine level" ] ], "xref": [ "MSH:C537236", "SNOMEDCT_US:64852002", "UMLS:C0268563" ], "is_a": [ "HP:0010898" ], "is_obsolete": "", "replace_id": "" }, "HP:0010897": { "name": [ "hypersarcosinuria", "hypersarcosinuria" ], "alt_id": [], "def": "An elevated urinary concentration of sarcosine.", "synonym": [ [ "high urine sarcosine levels", "high urine sarcosine level" ] ], "xref": [ "UMLS:C4023669" ], "is_a": [ "HP:0033100" ], "is_obsolete": "", "replace_id": "" }, "HP:0010898": { "name": [ "abnormal circulating sarcosine concentration", "abnormal circulate sarcosine concentration" ], "alt_id": [], "def": "An deviation from the normal concentration of sarcosine in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023668" ], "is_a": [ "HP:0010894" ], "is_obsolete": "", "replace_id": "" }, "HP:0010899": { "name": [ "abnormal circulating aspartate family amino acid concentration", "abnormal circulate aspartate family amino acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023667" ], "is_a": [ "HP:0033107" ], "is_obsolete": "", "replace_id": "" }, "HP:0010900": { "name": [ "abnormal circulating threonine concentration", "abnormal circulate threonine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of threonine in the blood circulation.", "synonym": [ [ "abnormality of threonine metabolism", "abnormality of threonine metabolism" ] ], "xref": [ "UMLS:C4023666" ], "is_a": [ "HP:0010899" ], "is_obsolete": "", "replace_id": "" }, "HP:0010901": { "name": [ "abnormal circulating methionine concentration", "abnormal circulate methionine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of methionine in the blood circulation.", "synonym": [ [ "abnormality of methionine metabolism", "abnormality of methionine metabolism" ] ], "xref": [ "UMLS:C4023665" ], "is_a": [ "HP:0004339", "HP:0010899" ], "is_obsolete": "", "replace_id": "" }, "HP:0010902": { "name": [ "abnormal circulating glutamine family amino acid concentration", "abnormal circulate glutamine family amino acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023664" ], "is_a": [ "HP:0033107" ], "is_obsolete": "", "replace_id": "" }, "HP:0010903": { "name": [ "abnormal circulating glutamine concentration", "abnormal circulate glutamine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of glutamine in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023663" ], "is_a": [ "HP:0010902" ], "is_obsolete": "", "replace_id": "" }, "HP:0010904": { "name": [ "abnormal circulating histidine concentration", "abnormal circulate histidine concentration" ], "alt_id": [], "def": "An abnormality of a histidine metabolic process.", "synonym": [ [ "abnormality of histidine metabolism", "abnormality of histidine metabolism" ] ], "xref": [ "UMLS:C4023662" ], "is_a": [ "HP:0033107" ], "is_obsolete": "", "replace_id": "" }, "HP:0010905": { "name": [ "obsolete abnormality of histidine metabolism", "obsolete abnormality of histidine metabolism" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0010904" }, "HP:0010906": { "name": [ "hyperhistidinemia", "hyperhistidinemia" ], "alt_id": [], "def": "An increased concentration of histidine in the blood.", "synonym": [ [ "high blood histidine level", "high blood histidine level" ], [ "histidinemia", "histidinemia" ] ], "xref": [ "MSH:C538320", "SNOMEDCT_US:124628005", "SNOMEDCT_US:410058007", "UMLS:C0220992" ], "is_a": [ "HP:0010904" ], "is_obsolete": "", "replace_id": "" }, "HP:0010907": { "name": [ "abnormal circulating proline concentration", "abnormal circulate proline concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023661" ], "is_a": [ "HP:0010902" ], "is_obsolete": "", "replace_id": "" }, "HP:0010908": { "name": [ "abnormal circulating lysine concentration", "abnormal circulate lysine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of lysine in the blood circulation.", "synonym": [ [ "abnormality of lysine metabolism", "abnormality of lysine metabolism" ] ], "xref": [ "UMLS:C4023660" ], "is_a": [ "HP:0010899" ], "is_obsolete": "", "replace_id": "" }, "HP:0010909": { "name": [ "abnormal circulating arginine concentration", "abnormal circulate arginine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of arginine in the blood circulation.", "synonym": [ [ "abnormality of arginine metabolism", "abnormality of arginine metabolism" ] ], "xref": [ "UMLS:C4023659" ], "is_a": [ "HP:0010902" ], "is_obsolete": "", "replace_id": "" }, "HP:0010910": { "name": [ "hypervalinemia", "hypervalinemia" ], "alt_id": [], "def": "An increased concentration of valine in the blood.", "synonym": [ [ "high blood valine concentration", "high blood valine concentration" ] ], "xref": [ "MSH:C536524", "SNOMEDCT_US:47719001", "UMLS:C0268573" ], "is_a": [ "HP:0010914" ], "is_obsolete": "", "replace_id": "" }, "HP:0010911": { "name": [ "hyperleucinemia", "hyperleucinemia" ], "alt_id": [], "def": "An increased concentration of leucine in the blood.", "synonym": [ [ "high blood leucine concentration", "high blood leucine concentration" ] ], "xref": [ "SNOMEDCT_US:24013007", "UMLS:C0268576" ], "is_a": [ "HP:0004357" ], "is_obsolete": "", "replace_id": "" }, "HP:0010912": { "name": [ "abnormal circulating isoleucine concentration", "abnormal circulate isoleucine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of isoleucine in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023658" ], "is_a": [ "HP:0010892" ], "is_obsolete": "", "replace_id": "" }, "HP:0010913": { "name": [ "hyperisoleucinemia", "hyperisoleucinemia" ], "alt_id": [], "def": "An increased concentration of isoleucine in the blood.", "synonym": [ [ "high blood isoleucine concentration", "high blood isoleucine concentration" ] ], "xref": [ "UMLS:C4023657" ], "is_a": [ "HP:0010912" ], "is_obsolete": "", "replace_id": "" }, "HP:0010914": { "name": [ "abnormal circulating valine concentration", "abnormal circulate valine concentration" ], "alt_id": [], "def": "Any deviation from the normal circulation of valine in the blood circulation.", "synonym": [ [ "abnormality of valine metabolism", "abnormality of valine metabolism" ] ], "xref": [ "UMLS:C4023656" ], "is_a": [ "HP:0010892" ], "is_obsolete": "", "replace_id": "" }, "HP:0010915": { "name": [ "abnormal circulating pyruvate family amino acid concentration", "abnormal circulate pyruvate family amino acid concentration" ], "alt_id": [], "def": "An abnormality of a pyruvate family amino acid metabolic process.", "synonym": [ [ "abnormality of pyruvate family amino acid metabolism", "abnormality of pyruvate family amino acid metabolism" ] ], "xref": [ "UMLS:C4023655" ], "is_a": [ "HP:0033108" ], "is_obsolete": "", "replace_id": "" }, "HP:0010916": { "name": [ "abnormal circulating alanine concentration", "abnormal circulate alanine concentration" ], "alt_id": [], "def": "An abnormality of an alanine metabolic process.", "synonym": [ [ "abnormality of alanine metabolism", "abnormality of alanine metabolism" ] ], "xref": [ "UMLS:C4023654" ], "is_a": [ "HP:0010915" ], "is_obsolete": "", "replace_id": "" }, "HP:0010917": { "name": [ "abnormal circulating tyrosine concentration", "abnormal circulate tyrosine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of tyrosine in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023653" ], "is_a": [ "HP:0004338" ], "is_obsolete": "", "replace_id": "" }, "HP:0010918": { "name": [ "abnormal circulating cysteine concentration", "abnormal circulate cysteine concentration" ], "alt_id": [], "def": "An abnormality of a cysteine metabolic process.", "synonym": [], "xref": [ "UMLS:C4023652" ], "is_a": [ "HP:0004339" ], "is_obsolete": "", "replace_id": "" }, "HP:0010919": { "name": [ "abnormal circulating homocysteine concentration", "abnormal circulate homocysteine concentration" ], "alt_id": [], "def": "An abnormality of a homocysteine metabolic process.", "synonym": [], "xref": [ "UMLS:C4023651" ], "is_a": [ "HP:0004339" ], "is_obsolete": "", "replace_id": "" }, "HP:0010920": { "name": [ "zonular cataract", "zonular cataract" ], "alt_id": [ "HP:0007713" ], "def": "Zonular cataracts are defined to be cataracts that affect specific regions of the lens.", "synonym": [], "xref": [ "MSH:C535342", "UMLS:C1861821" ], "is_a": [ "HP:0000518" ], "is_obsolete": "", "replace_id": "" }, "HP:0010921": { "name": [ "coralliform cataract", "coralliform cataract" ], "alt_id": [], "def": "A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form.", "synonym": [], "xref": [ "UMLS:C1392104" ], "is_a": [ "HP:0010920" ], "is_obsolete": "", "replace_id": "" }, "HP:0010922": { "name": [ "membranous cataract", "membranous cataract" ], "alt_id": [], "def": "A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens.", "synonym": [], "xref": [ "MSH:D002386", "UMLS:C0524524" ], "is_a": [ "HP:0000518" ], "is_obsolete": "", "replace_id": "" }, "HP:0010923": { "name": [ "anterior subcapsular cataract", "anterior subcapsular cataract" ], "alt_id": [], "def": "A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule.", "synonym": [], "xref": [ "SNOMEDCT_US:315352000", "UMLS:C1112768" ], "is_a": [ "HP:0000523" ], "is_obsolete": "", "replace_id": "" }, "HP:0010924": { "name": [ "posterior cortical cataract", "posterior cortical cataract" ], "alt_id": [], "def": "A cataract that affects the posterior part of the cortex of the lens.", "synonym": [], "xref": [ "UMLS:C4023650" ], "is_a": [ "HP:0100019" ], "is_obsolete": "", "replace_id": "" }, "HP:0010925": { "name": [ "nuclear punctate cataract", "nuclear punctate cataract" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023649" ], "is_a": [ "HP:0007648", "HP:0100018" ], "is_obsolete": "", "replace_id": "" }, "HP:0010926": { "name": [ "aculeiform cataract", "aculeiform cataract" ], "alt_id": [], "def": "A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens.", "synonym": [ [ "fasciculiform cataract", "fasciculiform cataract" ], [ "frosted cataract", "frost cataract" ], [ "needle - shaped cataract", "needle - shape cataract" ] ], "xref": [ "MSH:C566162", "UMLS:C1861832" ], "is_a": [ "HP:0100018" ], "is_obsolete": "", "replace_id": "" }, "HP:0010927": { "name": [ "abnormal blood inorganic cation concentration", "abnormal blood inorganic cation concentration" ], "alt_id": [], "def": "An abnormality of divalent inorganic cation homeostasis.", "synonym": [ [ "abnormality of divalent inorganic cation homeostasis", "abnormality of divalent inorganic cation homeostasis" ] ], "xref": [ "UMLS:C4023648" ], "is_a": [ "HP:0010929" ], "is_obsolete": "", "replace_id": "" }, "HP:0010928": { "name": [ "obsolete increased urinary orotic acid concentration", "obsolete increase urinary orotic acid concentration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0003218" }, "HP:0010929": { "name": [ "abnormal blood cation concentration", "abnormal blood cation concentration" ], "alt_id": [], "def": "An abnormality of cation homeostasis.", "synonym": [ [ "abnormality of cation homeostasis", "abnormality of cation homeostasis" ] ], "xref": [ "UMLS:C4023646" ], "is_a": [ "HP:0003111" ], "is_obsolete": "", "replace_id": "" }, "HP:0010930": { "name": [ "abnormal blood monovalent inorganic cation concentration", "abnormal blood monovalent inorganic cation concentration" ], "alt_id": [], "def": "An abnormality of monovalent inorganic cation homeostasis.", "synonym": [ [ "abnormality of monovalent inorganic cation homeostasis", "abnormality of monovalent inorganic cation homeostasis" ] ], "xref": [ "UMLS:C4023645" ], "is_a": [ "HP:0010929" ], "is_obsolete": "", "replace_id": "" }, "HP:0010931": { "name": [ "abnormal blood sodium concentration", "abnormal blood sodium concentration" ], "alt_id": [], "def": "An abnormal concentration of sodium.", "synonym": [ [ "abnormal blood na+ levels", "abnormal blood na+ level" ], [ "abnormal circulating na concentration", "abnormal circulate na concentration" ], [ "abnormality of sodium homeostasis", "abnormality of sodium homeostasis" ] ], "xref": [ "UMLS:C4023644" ], "is_a": [ "HP:0010930" ], "is_obsolete": "", "replace_id": "" }, "HP:0010932": { "name": [ "abnormal circulating nucleobase concentration", "abnormal circulate nucleobase concentration" ], "alt_id": [], "def": "An abnormality of a nucleobase metabolic process.", "synonym": [ [ "abnormal nucleoside levels", "abnormal nucleoside level" ] ], "xref": [ "UMLS:C4020762", "UMLS:C4023643" ], "is_a": [ "HP:0004364" ], "is_obsolete": "", "replace_id": "" }, "HP:0010933": { "name": [ "hyperxanthinemia", "hyperxanthinemia" ], "alt_id": [], "def": "An increased level of xanthine in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023642" ], "is_a": [ "HP:0004368" ], "is_obsolete": "", "replace_id": "" }, "HP:0010934": { "name": [ "xanthinuria", "xanthinuria" ], "alt_id": [], "def": "An increased concentration of xanthine in the urine.", "synonym": [ [ "increased urinary xanthine", "increase urinary xanthine" ] ], "xref": [ "SNOMEDCT_US:190919008", "SNOMEDCT_US:54627004", "UMLS:C0220988" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0010935": { "name": [ "abnormality of the upper urinary tract", "abnormality of the upper urinary tract" ], "alt_id": [], "def": "An abnormality of the upper urinary tract.", "synonym": [ [ "abnormality of the upper urinary tract", "abnormality of the upper urinary tract" ] ], "xref": [ "UMLS:C4023641" ], "is_a": [ "HP:0000079" ], "is_obsolete": "", "replace_id": "" }, "HP:0010936": { "name": [ "abnormality of the lower urinary tract", "abnormality of the low urinary tract" ], "alt_id": [], "def": "An abnormality of the lower urinary tract.", "synonym": [], "xref": [ "UMLS:C4023640" ], "is_a": [ "HP:0000079" ], "is_obsolete": "", "replace_id": "" }, "HP:0010937": { "name": [ "abnormality of the nasal skeleton", "abnormality of the nasal skeleton" ], "alt_id": [], "def": "An abnormality of the nasal skeleton.", "synonym": [ [ "abnormality of the nasal skeleton", "abnormality of the nasal skeleton" ], [ "anomaly of the nasal skeleton", "anomaly of the nasal skeleton" ], [ "deformity of the bones of the nose", "deformity of the bone of the nose" ], [ "deformity of the nasal skeleton", "deformity of the nasal skeleton" ], [ "distortion of the bones of the nose", "distortion of the bone of the nose" ], [ "distortion of the nasal skeleton", "distortion of the nasal skeleton" ], [ "malformation of the bones of the nose", "malformation of the bone of the nose" ], [ "malformation of the nasal skeleton", "malformation of the nasal skeleton" ] ], "xref": [ "UMLS:C4023639", "UMLS:C4280361" ], "is_a": [ "HP:0000366", "HP:0000924" ], "is_obsolete": "", "replace_id": "" }, "HP:0010938": { "name": [ "abnormality of the external nose", "abnormality of the external nose" ], "alt_id": [], "def": "An abnormality of the external nose.", "synonym": [ [ "abnormality of the external nose", "abnormality of the external nose" ], [ "anomaly of the external nose", "anomaly of the external nose" ], [ "deformity of the external nose", "deformity of the external nose" ], [ "malformation of the external nose", "malformation of the external nose" ] ], "xref": [ "UMLS:C2164724", "UMLS:C4023638", "UMLS:C4280360" ], "is_a": [ "HP:0000366" ], "is_obsolete": "", "replace_id": "" }, "HP:0010939": { "name": [ "abnormality of the nasal bone", "abnormality of the nasal bone" ], "alt_id": [], "def": "An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.", "synonym": [ [ "abnormality of the nasal bone", "abnormality of the nasal bone" ], [ "anomaly of the nasal bones", "anomaly of the nasal bone" ], [ "deformity of the nasal bones", "deformity of the nasal bone" ], [ "malformation of the nasal bones", "malformation of the nasal bone" ] ], "xref": [ "UMLS:C4023637" ], "is_a": [ "HP:0010937" ], "is_obsolete": "", "replace_id": "" }, "HP:0010940": { "name": [ "aplasia / hypoplasia of the nasal bone", "aplasia / hypoplasia of the nasal bone" ], "alt_id": [], "def": "Absence or underdevelopment of the nasal bone.", "synonym": [], "xref": [ "UMLS:C4023636" ], "is_a": [ "HP:0010939" ], "is_obsolete": "", "replace_id": "" }, "HP:0010941": { "name": [ "aplasia of the nasal bone", "aplasia of the nasal bone" ], "alt_id": [], "def": "Absence of the nasal bone.", "synonym": [ [ "absence of the nasal bone", "absence of the nasal bone" ], [ "agenesis of the nasal bone", "agenesis of the nasal bone" ], [ "failure of development of the nasal bone", "failure of development of the nasal bone" ], [ "lack of development of the nasal bone", "lack of development of the nasal bone" ], [ "missing nasal bone", "miss nasal bone" ] ], "xref": [ "MSH:C562753", "SNOMEDCT_US:91900007", "UMLS:C0339850", "UMLS:C0339851", "UMLS:C4023635" ], "is_a": [ "HP:0010940" ], "is_obsolete": "", "replace_id": "" }, "HP:0010942": { "name": [ "echogenic intracardiac focus", "echogenic intracardiac focus" ], "alt_id": [], "def": "A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart.", "synonym": [], "xref": [ "UMLS:C4023634" ], "is_a": [ "HP:0010948", "HP:0011425" ], "is_obsolete": "", "replace_id": "" }, "HP:0010943": { "name": [ "echogenic fetal bowel", "echogenic fetal bowel" ], "alt_id": [], "def": "Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.", "synonym": [ [ "echogenic bowel", "echogenic bowel" ], [ "echogenic foetal bowel", "echogenic foetal bowel" ] ], "xref": [ "MSH:D058535", "UMLS:C2936423" ], "is_a": [ "HP:0011425" ], "is_obsolete": "", "replace_id": "" }, "HP:0010944": { "name": [ "abnormal renal pelvis morphology", "abnormal renal pelvis morphology" ], "alt_id": [], "def": "An abnormality of the renal pelvis.", "synonym": [ [ "abnormality of the renal pelvis", "abnormality of the renal pelvis" ] ], "xref": [ "UMLS:C4023633" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0010945": { "name": [ "fetal pyelectasis", "fetal pyelectasis" ], "alt_id": [], "def": "Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.", "synonym": [ [ "fetal renal pelvic dilatation", "fetal renal pelvic dilatation" ], [ "foetal pyelectasis", "foetal pyelectasis" ], [ "foetal renal pelvic dilatation", "foetal renal pelvic dilatation" ], [ "mild fetal hydronephrosis", "mild fetal hydronephrosis" ], [ "mild foetal hydronephrosis", "mild foetal hydronephrosis" ] ], "xref": [ "MSH:D058536", "SNOMEDCT_US:430035004", "UMLS:C2317073" ], "is_a": [ "HP:0010944", "HP:0011425" ], "is_obsolete": "", "replace_id": "" }, "HP:0010946": { "name": [ "dilatation of the renal pelvis", "dilatation of the renal pelvis" ], "alt_id": [], "def": "The presence of dilatation of the renal pelvis.", "synonym": [], "xref": [ "UMLS:C1868864" ], "is_a": [ "HP:0010944" ], "is_obsolete": "", "replace_id": "" }, "HP:0010947": { "name": [ "abnormality of ductus venosus blood flow", "abnormality of ductus venosus blood flow" ], "alt_id": [], "def": "A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus.", "synonym": [], "xref": [ "UMLS:C4023632" ], "is_a": [ "HP:0010948" ], "is_obsolete": "", "replace_id": "" }, "HP:0010948": { "name": [ "abnormality of the fetal cardiovascular system", "abnormality of the fetal cardiovascular system" ], "alt_id": [], "def": "An abnormality of the fetal circulation system or fetal echocardiogram.", "synonym": [ [ "abnormality of the fetal circulation system", "abnormality of the fetal circulation system" ], [ "abnormality of the foetal cardiovascular system", "abnormality of the foetal cardiovascular system" ], [ "abnormality of the foetal circulation system", "abnormality of the foetal circulation system" ] ], "xref": [ "UMLS:C4021210" ], "is_a": [ "HP:0001626" ], "is_obsolete": "", "replace_id": "" }, "HP:0010949": { "name": [ "abnormality of umbilical vein blood flow", "abnormality of umbilical vein blood flow" ], "alt_id": [], "def": "A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.", "synonym": [], "xref": [ "UMLS:C4023631" ], "is_a": [ "HP:0010948", "HP:0011403" ], "is_obsolete": "", "replace_id": "" }, "HP:0010950": { "name": [ "abnormal fourth ventricle morphology", "abnormal fourth ventricle morphology" ], "alt_id": [], "def": "An abnormality of the fourth ventricle.", "synonym": [ [ "abnormality of the fourth ventricle", "abnormality of the fourth ventricle" ] ], "xref": [ "UMLS:C4023630" ], "is_a": [ "HP:0002118" ], "is_obsolete": "", "replace_id": "" }, "HP:0010951": { "name": [ "abnormal third ventricle morphology", "abnormal third ventricle morphology" ], "alt_id": [], "def": "An abnormality of the third ventricle.", "synonym": [ [ "abnormality of the third ventricle", "abnormality of the third ventricle" ] ], "xref": [ "UMLS:C4023629" ], "is_a": [ "HP:0002118" ], "is_obsolete": "", "replace_id": "" }, "HP:0010952": { "name": [ "mild fetal ventriculomegaly", "mild fetal ventriculomegaly" ], "alt_id": [], "def": "A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637).", "synonym": [ [ "mild foetal ventriculomegaly", "mild foetal ventriculomegaly" ] ], "xref": [ "UMLS:C4023628" ], "is_a": [ "HP:0002119", "HP:0011425" ], "is_obsolete": "", "replace_id": "" }, "HP:0010953": { "name": [ "noncommunicating hydrocephalus", "noncommunicating hydrocephalus" ], "alt_id": [], "def": "A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed.", "synonym": [], "xref": [ "MSH:D006849", "SNOMEDCT_US:230746009", "SNOMEDCT_US:82346000", "UMLS:C0549423" ], "is_a": [ "HP:0000238" ], "is_obsolete": "", "replace_id": "" }, "HP:0010954": { "name": [ "hypoplastic right heart", "hypoplastic right heart" ], "alt_id": [], "def": "Underdevelopment of the right-sided structures of the heart.", "synonym": [ [ "hypoplastic right heart syndrome", "hypoplastic right heart syndrome" ], [ "underdeveloped right heart", "underdeveloped right heart" ] ], "xref": [ "SNOMEDCT_US:268180007", "SNOMEDCT_US:39589002", "UMLS:C0265856", "UMLS:C0344963" ], "is_a": [ "HP:0001961", "HP:0011723" ], "is_obsolete": "", "replace_id": "" }, "HP:0010955": { "name": [ "dilatation of the bladder", "dilatation of the bladder" ], "alt_id": [], "def": "The presence of a dilated urinary bladder.", "synonym": [], "xref": [ "UMLS:C0549253" ], "is_a": [ "HP:0025487" ], "is_obsolete": "", "replace_id": "" }, "HP:0010956": { "name": [ "fetal megacystis", "fetal megacystis" ], "alt_id": [], "def": "Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.", "synonym": [ [ "foetal megacystis", "foetal megacystis" ] ], "xref": [ "MSH:C536139", "UMLS:C2931117" ], "is_a": [ "HP:0010955" ], "is_obsolete": "", "replace_id": "" }, "HP:0010957": { "name": [ "congenital posterior urethral valve", "congenital posterior urethral valve" ], "alt_id": [], "def": "A developmental defect resulting in an obstructing membrane in the posterior male urethra.", "synonym": [ [ "posterior urethral valve", "posterior urethral valve" ], [ "posterior urethral valves", "posterior urethral valve" ] ], "xref": [ "SNOMEDCT_US:253900005", "UMLS:C0238506" ], "is_a": [ "HP:0010481" ], "is_obsolete": "", "replace_id": "" }, "HP:0010958": { "name": [ "bilateral renal agenesis", "bilateral renal agenesis" ], "alt_id": [], "def": "A bilateral form of agenesis of the kidney.", "synonym": [], "xref": [ "MSH:C536482", "SNOMEDCT_US:41962002", "UMLS:C1609433" ], "is_a": [ "HP:0000104" ], "is_obsolete": "", "replace_id": "" }, "HP:0010959": { "name": [ "congenital cystic adenomatoid malformation of the lung", "congenital cystic adenomatoid malformation of the lung" ], "alt_id": [ "HP:0006540", "HP:0006545" ], "def": "Congenital cystic adenomatoid malformation (CCAM) can be diagnosed prenatally if ultrasound shows a cystic or solid lung tumor. A CCAM does not have systemic arterial blood supply (in contrast to bronchopulmonary sequenstration). It is a cystic area within the lung that originates from abnormal embryogenesis.", "synonym": [ [ "congenital cystic disease of the lung", "congenital cystic disease of the lung" ], [ "cystic adenomatoid lung disease", "cystic adenomatoid lung disease" ] ], "xref": [ "MSH:D015615", "SNOMEDCT_US:111318005", "UMLS:C0010668" ], "is_a": [ "HP:0005948" ], "is_obsolete": "", "replace_id": "" }, "HP:0010960": { "name": [ "bronchopulmonary sequestration", "bronchopulmonary sequestration" ], "alt_id": [], "def": "The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree.", "synonym": [], "xref": [ "MSH:D001998", "SNOMEDCT_US:18620009", "UMLS:C0006288" ], "is_a": [ "HP:4000059" ], "is_obsolete": "", "replace_id": "" }, "HP:0010961": { "name": [ "intralobar sequestration", "intralobar sequestration" ], "alt_id": [], "def": "A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung.", "synonym": [], "xref": [ "UMLS:C4023627" ], "is_a": [ "HP:0010960" ], "is_obsolete": "", "replace_id": "" }, "HP:0010962": { "name": [ "extralobar sequestration", "extralobar sequestration" ], "alt_id": [], "def": "A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura.", "synonym": [], "xref": [ "UMLS:C4023626" ], "is_a": [ "HP:0010960" ], "is_obsolete": "", "replace_id": "" }, "HP:0010963": { "name": [ "absence of stomach bubble on fetal sonography", "absence of stomach bubble on fetal sonography" ], "alt_id": [], "def": "By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.", "synonym": [ [ "absence of stomach bubble on foetal sonography", "absence of stomach bubble on foetal sonography" ] ], "xref": [ "UMLS:C4023625" ], "is_a": [ "HP:0011425" ], "is_obsolete": "", "replace_id": "" }, "HP:0010964": { "name": [ "abnormal circulating long - chain fatty - acid concentration", "abnormal circulate long - chain fatty - acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023624" ], "is_a": [ "HP:0004359" ], "is_obsolete": "", "replace_id": "" }, "HP:0010965": { "name": [ "abnormal circulating phytanic acid concentration", "abnormal circulate phytanic acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of phytanic acid in the blood circulation.", "synonym": [ [ "abnormal circulating phytanic acid level", "abnormal circulate phytanic acid level" ] ], "xref": [ "UMLS:C4023623" ], "is_a": [ "HP:0010964" ], "is_obsolete": "", "replace_id": "" }, "HP:0010966": { "name": [ "abnormal circulating fatty - acid anion concentration", "abnormal circulate fatty - acid anion concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a fatty acid anion in the blood circulation.", "synonym": [ [ "abnormality of fatty acid anion", "abnormality of fatty acid anion" ] ], "xref": [ "UMLS:C4021209" ], "is_a": [ "HP:0004359" ], "is_obsolete": "", "replace_id": "" }, "HP:0010967": { "name": [ "abnormal circulating carnitine concentration", "abnormal circulate carnitine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of carnitine in the blood circulation.", "synonym": [ [ "carnitine levels abnormal", "carnitine level abnormal" ] ], "xref": [ "UMLS:C4020761", "UMLS:C4021855" ], "is_a": [ "HP:0010966" ], "is_obsolete": "", "replace_id": "" }, "HP:0010968": { "name": [ "abnormality of liposaccharide metabolism", "abnormality of liposaccharide metabolism" ], "alt_id": [], "def": "An abnormality of liposaccharide metabolism.", "synonym": [], "xref": [ "UMLS:C4023622" ], "is_a": [ "HP:0032243" ], "is_obsolete": "", "replace_id": "" }, "HP:0010969": { "name": [ "abnormality of glycolipid metabolism", "abnormality of glycolipid metabolism" ], "alt_id": [], "def": "An abnormality of glycolipid metabolism.", "synonym": [], "xref": [ "UMLS:C4023621" ], "is_a": [ "HP:0032243" ], "is_obsolete": "", "replace_id": "" }, "HP:0010970": { "name": [ "blood group antigen abnormality", "blood group antigen abnormality" ], "alt_id": [], "def": "An abnormality of an erythrocyte cell surface molecule.", "synonym": [], "xref": [ "UMLS:C4023620" ], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0010971": { "name": [ "absence of lutheran antigen on erythrocytes", "absence of lutheran antigen on erythrocyte" ], "alt_id": [], "def": "Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.", "synonym": [], "xref": [ "UMLS:C4023619" ], "is_a": [ "HP:0010970" ], "is_obsolete": "", "replace_id": "" }, "HP:0010972": { "name": [ "anemia of inadequate production", "anemia of inadequate production" ], "alt_id": [ "HP:0005501", "HP:0005504", "HP:0005553" ], "def": "A kind of anemia characterized by inadequate production of erythrocytes.", "synonym": [ [ "anaemia of inadequate production", "anaemia of inadequate production" ], [ "anemia , dyserythropoietic", "anemia , dyserythropoietic" ], [ "defective erythropoiesis", "defective erythropoiesis" ], [ "dyserythropoietic anaemia", "dyserythropoietic anaemia" ], [ "dyserythropoietic anemia", "dyserythropoietic anemia" ], [ "ineffective erythropoiesis", "ineffective erythropoiesis" ] ], "xref": [ "SNOMEDCT_US:70730006", "UMLS:C0392708", "UMLS:C0678199" ], "is_a": [ "HP:0001903" ], "is_obsolete": "", "replace_id": "" }, "HP:0010974": { "name": [ "abnormal myeloid leukocyte morphology", "abnormal myeloid leukocyte morphology" ], "alt_id": [], "def": "An abnormality of myeloid leukocytes.", "synonym": [ [ "abnormality of myeloid leukocytes", "abnormality of myeloid leukocyte" ] ], "xref": [ "UMLS:C4023618" ], "is_a": [ "HP:0001881" ], "is_obsolete": "", "replace_id": "" }, "HP:0010975": { "name": [ "abnormal b cell count", "abnormal b cell count" ], "alt_id": [], "def": "A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.", "synonym": [ [ "abnormal number of b cells", "abnormal number of b cell" ], [ "abnormal numbers of b cells", "abnormal number of b cell" ], [ "abnormality of b cell count", "abnormality of b cell count" ], [ "abnormality of b cell numbers", "abnormality of b cell number" ] ], "xref": [ "UMLS:C4021208" ], "is_a": [ "HP:0002846", "HP:0040088" ], "is_obsolete": "", "replace_id": "" }, "HP:0010976": { "name": [ "b lymphocytopenia", "b lymphocytopenia" ], "alt_id": [ "HP:0002956" ], "def": "An abnormal decrease from the normal count of B cells.", "synonym": [ [ "b cell deficiency", "b cell deficiency" ], [ "b cell lymphopenia", "b cell lymphopenia" ], [ "decreased b cell count", "decrease b cell count" ], [ "low b cell count", "low b cell count" ], [ "reduction in b cell number", "reduction in b cell number" ] ], "xref": [ "UMLS:C1855067" ], "is_a": [ "HP:0001888", "HP:0010975" ], "is_obsolete": "", "replace_id": "" }, "HP:0010977": { "name": [ "abnormal phagocytosis", "abnormal phagocytosis" ], "alt_id": [], "def": "An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation.", "synonym": [], "xref": [ "UMLS:C4023617" ], "is_a": [ "HP:0010978" ], "is_obsolete": "", "replace_id": "" }, "HP:0010978": { "name": [ "abnormality of immune system physiology", "abnormality of immune system physiology" ], "alt_id": [], "def": "A functional abnormality of the immune system.", "synonym": [], "xref": [ "UMLS:C4023616" ], "is_a": [ "HP:0002715" ], "is_obsolete": "", "replace_id": "" }, "HP:0010979": { "name": [ "abnormality of lipoprotein cholesterol concentration", "abnormality of lipoprotein cholesterol concentration" ], "alt_id": [], "def": "An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.", "synonym": [ [ "abnormality of the level of lipoprotein cholesterol", "abnormality of the level of lipoprotein cholesterol" ] ], "xref": [ "UMLS:C4023615" ], "is_a": [ "HP:0003107" ], "is_obsolete": "", "replace_id": "" }, "HP:0010980": { "name": [ "hyperlipoproteinemia", "hyperlipoproteinemia" ], "alt_id": [], "def": "An abnormal increase in the level of lipoprotein cholesterol in the blood.", "synonym": [], "xref": [ "MSH:D006951", "SNOMEDCT_US:3744001", "UMLS:C0020476" ], "is_a": [ "HP:0010979" ], "is_obsolete": "", "replace_id": "" }, "HP:0010981": { "name": [ "hypolipoproteinemia", "hypolipoproteinemia" ], "alt_id": [], "def": "An abnormal decrease in the level of lipoprotein cholesterol in the blood.", "synonym": [ [ "lack of fat in blood", "lack of fat in blood" ] ], "xref": [ "MSH:D007009", "SNOMEDCT_US:267436001", "SNOMEDCT_US:363140000", "UMLS:C0020623" ], "is_a": [ "HP:0010979" ], "is_obsolete": "", "replace_id": "" }, "HP:0010982": { "name": [ "polygenic inheritance", "polygenic inheritance" ], "alt_id": [], "def": "A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci.", "synonym": [], "xref": [ "MSH:D020412", "UMLS:C1148552" ], "is_a": [ "HP:0001426" ], "is_obsolete": "", "replace_id": "" }, "HP:0010983": { "name": [ "oligogenic inheritance", "oligogenic inheritance" ], "alt_id": [], "def": "A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform.", "synonym": [], "xref": [ "MSH:D020412", "UMLS:C1136026" ], "is_a": [ "HP:0001426" ], "is_obsolete": "", "replace_id": "" }, "HP:0010984": { "name": [ "digenic inheritance", "digenic inheritance" ], "alt_id": [], "def": "A type of multifactorial inheritance governed by the simultaneous action of two gene loci.", "synonym": [], "xref": [ "UMLS:C4023614" ], "is_a": [ "HP:0001426" ], "is_obsolete": "", "replace_id": "" }, "HP:0010985": { "name": [ "gonosomal inheritance", "gonosomal inheritance" ], "alt_id": [], "def": "A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes.", "synonym": [], "xref": [ "UMLS:C4023613" ], "is_a": [ "HP:0000005" ], "is_obsolete": "", "replace_id": "" }, "HP:0010987": { "name": [ "abnormal cellular immune system morphology", "abnormal cellular immune system morphology" ], "alt_id": [], "def": "An abnormality of the morphology or counts of the cells that make up the immune system.", "synonym": [], "xref": [ "UMLS:C4023612" ], "is_a": [ "HP:0032251" ], "is_obsolete": "", "replace_id": "" }, "HP:0010988": { "name": [ "abnormality of the extrinsic pathway", "abnormality of the extrinsic pathway" ], "alt_id": [], "def": "An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.", "synonym": [], "xref": [ "UMLS:C4023611" ], "is_a": [ "HP:0003256" ], "is_obsolete": "", "replace_id": "" }, "HP:0010989": { "name": [ "abnormality of the intrinsic pathway", "abnormality of the intrinsic pathway" ], "alt_id": [], "def": "An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.", "synonym": [], "xref": [ "UMLS:C4023610" ], "is_a": [ "HP:0003256" ], "is_obsolete": "", "replace_id": "" }, "HP:0010990": { "name": [ "abnormality of the common coagulation pathway", "abnormality of the common coagulation pathway" ], "alt_id": [], "def": "An abnormality of blood coagulation, common pathway.", "synonym": [], "xref": [ "UMLS:C4023609" ], "is_a": [ "HP:0003256" ], "is_obsolete": "", "replace_id": "" }, "HP:0010991": { "name": [ "abnormal morphology of the abdominal musculature", "abnormal morphology of the abdominal musculature" ], "alt_id": [], "def": "An abnormality of the abdominal musculature.", "synonym": [ [ "abnormality of the abdominal musculature", "abnormality of the abdominal musculature" ] ], "xref": [ "UMLS:C4023608" ], "is_a": [ "HP:0004298", "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0010992": { "name": [ "stress urinary incontinence", "stress urinary incontinence" ], "alt_id": [], "def": "Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing.", "synonym": [], "xref": [ "MSH:D014550", "SNOMEDCT_US:22220005", "UMLS:C0042025" ], "is_a": [ "HP:0000020" ], "is_obsolete": "", "replace_id": "" }, "HP:0010993": { "name": [ "abnormality of the cerebral subcortex", "abnormality of the cerebral subcortex" ], "alt_id": [], "def": "An abnormality of the cerebral subcortex.", "synonym": [ [ "abnormality of the cerebral medulla", "abnormality of the cerebral medulla" ] ], "xref": [ "UMLS:C4021207" ], "is_a": [ "HP:0002060" ], "is_obsolete": "", "replace_id": "" }, "HP:0010994": { "name": [ "abnormal corpus striatum morphology", "abnormal corpus striatum morphology" ], "alt_id": [], "def": "Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.", "synonym": [ [ "abnormality of the neostriatum", "abnormality of the neostriatum" ], [ "abnormality of the striate nucleus", "abnormality of the striate nucleus" ], [ "abnormality of the striatum", "abnormality of the striatum" ] ], "xref": [ "UMLS:C4023607" ], "is_a": [ "HP:0002134" ], "is_obsolete": "", "replace_id": "" }, "HP:0010995": { "name": [ "abnormal circulating dicarboxylic acid concentration", "abnormal circulate dicarboxylic acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023606" ], "is_a": [ "HP:0004354" ], "is_obsolete": "", "replace_id": "" }, "HP:0010996": { "name": [ "abnormal circulating monocarboxylic acid cocentration", "abnormal circulate monocarboxylic acid cocentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023605" ], "is_a": [ "HP:0004354" ], "is_obsolete": "", "replace_id": "" }, "HP:0010997": { "name": [ "chromosomal breakage induced by ionizing radiation", "chromosomal breakage induce by ionize radiation" ], "alt_id": [], "def": "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.", "synonym": [ [ "chromosomal breakage induced by ionising radiation", "chromosomal breakage induce by ionise radiation" ], [ "increased cellular radiosensitivity", "increase cellular radiosensitivity" ], [ "radiation - induced chromosome instability", "radiation - induced chromosome instability" ] ], "xref": [ "UMLS:C4021206" ], "is_a": [ "HP:0040012" ], "is_obsolete": "", "replace_id": "" }, "HP:0010998": { "name": [ "increased susceptibility to spontaneous sister chromatid exchange", "increase susceptibility to spontaneous sister chromatid exchange" ], "alt_id": [], "def": "An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells.", "synonym": [], "xref": [ "UMLS:C4023604" ], "is_a": [ "HP:0003220" ], "is_obsolete": "", "replace_id": "" }, "HP:0010999": { "name": [ "aplasia of the optic tract", "aplasia of the optic tract" ], "alt_id": [], "def": "", "synonym": [ [ "absent optic tract", "absent optic tract" ] ], "xref": [ "UMLS:C4023603" ], "is_a": [ "HP:0011000" ], "is_obsolete": "", "replace_id": "" }, "HP:0011000": { "name": [ "aplasia / hypoplasia of the optic tract", "aplasia / hypoplasia of the optic tract" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small optic tract", "absent / small optic tract" ], [ "absent / underdeveloped optic tract", "absent / underdevelop optic tract" ] ], "xref": [ "UMLS:C4023602" ], "is_a": [ "HP:0002977" ], "is_obsolete": "", "replace_id": "" }, "HP:0011001": { "name": [ "increased bone mineral density", "increase bone mineral density" ], "alt_id": [ "HP:0002796", "HP:0004350", "HP:0005711", "HP:0005741", "HP:0010738" ], "def": "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.", "synonym": [ [ "increased bone density", "increase bone density" ], [ "increased bone mineral density", "increase bone mineral density" ], [ "osteosclerosis", "osteosclerosis" ], [ "osteosclerosis of bones", "osteosclerosis of bone" ] ], "xref": [ "MSH:D010026", "SNOMEDCT_US:49347007", "UMLS:C0029464" ], "is_a": [ "HP:0004348" ], "is_obsolete": "", "replace_id": "" }, "HP:0011002": { "name": [ "osteopetrosis", "osteopetrosis" ], "alt_id": [], "def": "Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.", "synonym": [ [ "albers - schoenberg disease", "albers - schoenberg disease" ], [ "albers - schonberg disease", "albers - schonberg disease" ], [ "albers - sch\u00f6nberg disease", "albers - sch\u00f6nberg disease" ], [ "harder , denser , fracture - prone bones", "harder , denser , fracture - prone bone" ], [ "marble bone disease", "marble bone disease" ] ], "xref": [ "MSH:D010022", "SNOMEDCT_US:1926006", "SNOMEDCT_US:367489004", "UMLS:C0029454" ], "is_a": [ "HP:0011001" ], "is_obsolete": "", "replace_id": "" }, "HP:0011003": { "name": [ "high myopia", "high myopia" ], "alt_id": [ "HP:0000569" ], "def": "A severe form of myopia with greater than -6.00 diopters.", "synonym": [ [ "severe myopia", "severe myopia" ], [ "severe myopia ( > - 6.00 diopters )", "severe myopia ( > - 6.00 diopter )" ], [ "severe near sightedness", "severe near sightedness" ], [ "severely close sighted", "severely close sighted" ], [ "severely near sighted", "severely near sight" ] ], "xref": [ "SNOMEDCT_US:34187009", "UMLS:C0271183" ], "is_a": [ "HP:0000545" ], "is_obsolete": "", "replace_id": "" }, "HP:0011004": { "name": [ "abnormal systemic arterial morphology", "abnormal systemic arterial morphology" ], "alt_id": [ "HP:0002620", "HP:0005114" ], "def": "An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.", "synonym": [ [ "abnormal systemic artery morphology", "abnormal systemic artery morphology" ], [ "abnormality of the systemic arterial tree", "abnormality of the systemic arterial tree" ], [ "arterial abnormalities", "arterial abnormality" ], [ "systemic artery abnormality", "systemic artery abnormality" ] ], "xref": [ "Fyler:2600", "SNOMEDCT_US:234119001", "UMLS:C0151489", "UMLS:C4021205" ], "is_a": [ "HP:0033353" ], "is_obsolete": "", "replace_id": "" }, "HP:0011005": { "name": [ "mixed cirrhosis", "mixed cirrhosis" ], "alt_id": [], "def": "A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes.", "synonym": [], "xref": [ "UMLS:C1392669" ], "is_a": [ "HP:0001394" ], "is_obsolete": "", "replace_id": "" }, "HP:0011006": { "name": [ "abnormal morphology of the musculature of the neck", "abnormal morphology of the musculature of the neck" ], "alt_id": [], "def": "An abnormality of the neck musculature.", "synonym": [ [ "abnormality of cervical musculature", "abnormality of cervical musculature" ], [ "abnormality of the musculature of the neck", "abnormality of the musculature of the neck" ], [ "neck muscle issue", "neck muscle issue" ] ], "xref": [ "UMLS:C4023601" ], "is_a": [ "HP:0000464", "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0011008": { "name": [ "temporal pattern", "temporal pattern" ], "alt_id": [], "def": "The speed at which disease manifestations appear and develop.", "synonym": [ [ "speed of onset", "speed of onset" ] ], "xref": [ "UMLS:C4021204" ], "is_a": [ "HP:0031797" ], "is_obsolete": "", "replace_id": "" }, "HP:0011009": { "name": [ "acute", "acute" ], "alt_id": [], "def": "Sudden appearance of disease manifestations over a short period of time.", "synonym": [ [ "acute onset", "acute onset" ] ], "xref": [ "SNOMEDCT_US:272118002", "UMLS:C0205178" ], "is_a": [ "HP:0011008" ], "is_obsolete": "", "replace_id": "" }, "HP:0011010": { "name": [ "chronic", "chronic" ], "alt_id": [], "def": "Slow, creeping onset, slow progress and long continuance of disease manifestations.", "synonym": [ [ "chronic", "chronic" ] ], "xref": [ "SNOMEDCT_US:90734009", "UMLS:C0205191" ], "is_a": [ "HP:0011008" ], "is_obsolete": "", "replace_id": "" }, "HP:0011011": { "name": [ "subacute", "subacute" ], "alt_id": [], "def": "Somewhat rapid onset and change of disease manifestations.", "synonym": [], "xref": [ "SNOMEDCT_US:19939008", "UMLS:C0205365" ], "is_a": [ "HP:0011008" ], "is_obsolete": "", "replace_id": "" }, "HP:0011012": { "name": [ "abnormal circulating polysaccharide concentration", "abnormal circulate polysaccharide concentration" ], "alt_id": [], "def": "A deviation from the normal concentration of a polysaccharide in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023600" ], "is_a": [ "HP:0011013" ], "is_obsolete": "", "replace_id": "" }, "HP:0011013": { "name": [ "abnormal circulating carbohydrate concentration", "abnormal circulate carbohydrate concentration" ], "alt_id": [], "def": "A deviation from the normal concentration of a carbohydrate in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023599" ], "is_a": [ "HP:0032180" ], "is_obsolete": "", "replace_id": "" }, "HP:0011014": { "name": [ "abnormal glucose homeostasis", "abnormal glucose homeostasis" ], "alt_id": [], "def": "Abnormality of glucose homeostasis.", "synonym": [], "xref": [ "UMLS:C4023598" ], "is_a": [ "HP:0012337" ], "is_obsolete": "", "replace_id": "" }, "HP:0011015": { "name": [ "abnormal blood glucose concentration", "abnormal blood glucose concentration" ], "alt_id": [], "def": "An abnormality of the concentration of glucose in the blood.", "synonym": [ [ "abnormality of blood glucose concentration", "abnormality of blood glucose concentration" ] ], "xref": [ "UMLS:C4023597" ], "is_a": [ "HP:0011014" ], "is_obsolete": "", "replace_id": "" }, "HP:0011016": { "name": [ "abnormality of urine glucose concentration", "abnormality of urine glucose concentration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0003076" }, "HP:0011017": { "name": [ "abnormal cellular physiology", "abnormal cellular physiology" ], "alt_id": [ "HP:0025462" ], "def": "An abnormality in a cellular process.", "synonym": [ [ "abnormality of cell physiology", "abnormality of cell physiology" ] ], "xref": [ "UMLS:C4023595" ], "is_a": [ "HP:0001939", "HP:0025354" ], "is_obsolete": "", "replace_id": "" }, "HP:0011018": { "name": [ "abnormality of the cell cycle", "abnormality of the cell cycle" ], "alt_id": [], "def": "An abnormality of the cell cycle.", "synonym": [ [ "abnormality of the cell cycle", "abnormality of the cell cycle" ] ], "xref": [ "UMLS:C4023594" ], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:0011019": { "name": [ "abnormality of chromosome condensation", "abnormality of chromosome condensation" ], "alt_id": [], "def": "An abnormality of chromosome condensation.", "synonym": [], "xref": [ "UMLS:C4023593" ], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:0011020": { "name": [ "abnormality of mucopolysaccharide metabolism", "abnormality of mucopolysaccharide metabolism" ], "alt_id": [], "def": "An abnormality of the metabolism of mucopolysaccharide.", "synonym": [], "xref": [ "UMLS:C4023592" ], "is_a": [ "HP:0004371" ], "is_obsolete": "", "replace_id": "" }, "HP:0011021": { "name": [ "abnormality of circulating enzyme level", "abnormality of circulate enzyme level" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023591" ], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0011022": { "name": [ "abnormal circulating unsaturated fatty acid concentration", "abnormal circulating unsaturated fatty acid concentration" ], "alt_id": [], "def": "A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023590" ], "is_a": [ "HP:0004359" ], "is_obsolete": "", "replace_id": "" }, "HP:0011023": { "name": [ "abnormal circulating prostaglandin circulation", "abnormal circulate prostaglandin circulation" ], "alt_id": [], "def": "Any deviation from the normal concentration of a prostaglandin in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023589" ], "is_a": [ "HP:0030361" ], "is_obsolete": "", "replace_id": "" }, "HP:0011024": { "name": [ "abnormality of the gastrointestinal tract", "abnormality of the gastrointestinal tract" ], "alt_id": [], "def": "An abnormality of the gastrointestinal tract.", "synonym": [ [ "abnormality of the gastrointestinal tract", "abnormality of the gastrointestinal tract" ], [ "abnormality of the gi tract", "abnormality of the gi tract" ], [ "digestive system disease", "digestive system disease" ], [ "gastrointestinal disease", "gastrointestinal disease" ] ], "xref": [ "MSH:D004066", "MSH:D005767", "SNOMEDCT_US:119292006", "SNOMEDCT_US:25374005", "SNOMEDCT_US:53619000", "UMLS:C0012242", "UMLS:C0017178", "UMLS:C4023588" ], "is_a": [ "HP:0025031" ], "is_obsolete": "", "replace_id": "" }, "HP:0011025": { "name": [ "abnormal cardiovascular system physiology", "abnormal cardiovascular system physiology" ], "alt_id": [], "def": "Abnormal functionality of the cardiovascular system.", "synonym": [ [ "abnormality of cardiovascular system physiology", "abnormality of cardiovascular system physiology" ] ], "xref": [ "UMLS:C4023587" ], "is_a": [ "HP:0001626" ], "is_obsolete": "", "replace_id": "" }, "HP:0011026": { "name": [ "aplasia / hypoplasia of the vagina", "aplasia / hypoplasia of the vagina" ], "alt_id": [], "def": "Aplasia or developmental hypoplasia of the vagina.", "synonym": [ [ "absent / small vagina", "absent / small vagina" ], [ "absent / underdeveloped vagina", "absent / underdevelop vagina" ] ], "xref": [ "UMLS:C4023586" ], "is_a": [ "HP:0000142" ], "is_obsolete": "", "replace_id": "" }, "HP:0011027": { "name": [ "abnormal fallopian tube morphology", "abnormal fallopian tube morphology" ], "alt_id": [], "def": "An abnormality of the fallopian tube.", "synonym": [ [ "abnormality of the fallopian tube", "abnormality of the fallopian tube" ] ], "xref": [ "UMLS:C0281842" ], "is_a": [ "HP:0000008" ], "is_obsolete": "", "replace_id": "" }, "HP:0011028": { "name": [ "abnormality of blood circulation", "abnormality of blood circulation" ], "alt_id": [], "def": "An abnormality of blood circulation.", "synonym": [ [ "blood circulation disorder", "blood circulation disorder" ] ], "xref": [ "UMLS:C4020760", "UMLS:C4023585" ], "is_a": [ "HP:0011025" ], "is_obsolete": "", "replace_id": "" }, "HP:0011029": { "name": [ "internal hemorrhage", "internal hemorrhage" ], "alt_id": [], "def": "The presence of hemorrhage within the body.", "synonym": [ [ "internal bleeding", "internal bleeding" ], [ "internal haemorrhage", "internal haemorrhage" ] ], "xref": [ "UMLS:C1390214" ], "is_a": [ "HP:0001892", "HP:0011028" ], "is_obsolete": "", "replace_id": "" }, "HP:0011030": { "name": [ "abnormal blood transition element cation concentration", "abnormal blood transition element cation concentration" ], "alt_id": [], "def": "An abnormality of the homeostasis (concentration) of transition element cation.", "synonym": [ [ "abnormality of transition element cation homeostasis", "abnormality of transition element cation homeostasis" ] ], "xref": [ "UMLS:C4023584" ], "is_a": [ "HP:0010929" ], "is_obsolete": "", "replace_id": "" }, "HP:0011031": { "name": [ "abnormality of iron homeostasis", "abnormality of iron homeostasis" ], "alt_id": [], "def": "An abnormality of the homeostasis (concentration) of iron cation.", "synonym": [], "xref": [ "UMLS:C4023583" ], "is_a": [ "HP:0011030" ], "is_obsolete": "", "replace_id": "" }, "HP:0011032": { "name": [ "abnormality of fluid regulation", "abnormality of fluid regulation" ], "alt_id": [], "def": "An abnormality of the regulation of body fluids.", "synonym": [ [ "abnormality of fluid regulation", "abnormality of fluid regulation" ], [ "fluid imbalance", "fluid imbalance" ] ], "xref": [ "SNOMEDCT_US:1860003", "SNOMEDCT_US:190902006", "UMLS:C2364164" ], "is_a": [ "HP:0012337" ], "is_obsolete": "", "replace_id": "" }, "HP:0011033": { "name": [ "impairment of fructose metabolism", "impairment of fructose metabolism" ], "alt_id": [], "def": "An impairment of a fructose metabolic process.", "synonym": [], "xref": [ "UMLS:C4023581" ], "is_a": [ "HP:0032245" ], "is_obsolete": "", "replace_id": "" }, "HP:0011034": { "name": [ "amyloidosis", "amyloidosis" ], "alt_id": [], "def": "The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body.", "synonym": [ [ "amyloid disease", "amyloid disease" ] ], "xref": [ "MSH:D000686", "SNOMEDCT_US:17602002", "UMLS:C0002726" ], "is_a": [ "HP:0001939" ], "is_obsolete": "", "replace_id": "" }, "HP:0011035": { "name": [ "abnormal renal cortex morphology", "abnormal renal cortex morphology" ], "alt_id": [], "def": "An abnormality of the cortex of the kidney.", "synonym": [ [ "abnormality of renal cortex morphology", "abnormality of renal cortex morphology" ] ], "xref": [ "UMLS:C4023580" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0011036": { "name": [ "abnormality of renal excretion", "abnormality of renal excretion" ], "alt_id": [], "def": "An altered ability of the kidneys to void urine and/or specific substances.", "synonym": [], "xref": [ "MP:0005555", "UMLS:C4023579" ], "is_a": [ "HP:0012211" ], "is_obsolete": "", "replace_id": "" }, "HP:0011037": { "name": [ "decreased urine output", "decrease urine output" ], "alt_id": [], "def": "A decreased rate of urine production.", "synonym": [], "xref": [ "UMLS:C3887784" ], "is_a": [ "HP:0012590" ], "is_obsolete": "", "replace_id": "" }, "HP:0011038": { "name": [ "abnormal renal resorption", "abnormal renal resorption" ], "alt_id": [], "def": "An abnormality of renal absorption.", "synonym": [ [ "abnormality of renal resorption", "abnormality of renal resorption" ] ], "xref": [ "UMLS:C4023578" ], "is_a": [ "HP:0012211" ], "is_obsolete": "", "replace_id": "" }, "HP:0011039": { "name": [ "abnormality of the helix", "abnormality of the helix" ], "alt_id": [ "HP:0000380" ], "def": "An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.", "synonym": [ [ "abnormal helices", "abnormal helix" ], [ "helix abnormal", "helix abnormal" ] ], "xref": [ "UMLS:C1856660" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0011040": { "name": [ "abnormality of the intrahepatic bile duct", "abnormality of the intrahepatic bile duct" ], "alt_id": [], "def": "An abnormality of the intrahepatic bile duct.", "synonym": [], "xref": [ "UMLS:C4023577" ], "is_a": [ "HP:0012440" ], "is_obsolete": "", "replace_id": "" }, "HP:0011041": { "name": [ "aplasia / hypoplasia of the cervical spine", "aplasia / hypoplasia of the cervical spine" ], "alt_id": [], "def": "Aplasia or developmental hypoplasia of the cervical vertebral column.", "synonym": [ [ "absent / small cervical spine", "absent / small cervical spine" ], [ "absent / underdeveloped cervical spine", "absent / underdevelop cervical spine" ] ], "xref": [ "UMLS:C4023576" ], "is_a": [ "HP:0008518", "HP:0046508" ], "is_obsolete": "", "replace_id": "" }, "HP:0011042": { "name": [ "abnormal blood potassium concentration", "abnormal blood potassium concentration" ], "alt_id": [], "def": "An abnormal concentration of potassium.", "synonym": [ [ "abnormal blood k concentration", "abnormal blood k concentration" ], [ "abnormality of potassium homeostasis", "abnormality of potassium homeostasis" ] ], "xref": [ "UMLS:C4023575" ], "is_a": [ "HP:0010930" ], "is_obsolete": "", "replace_id": "" }, "HP:0011043": { "name": [ "abnormality of circulating adrenocorticotropin level", "abnormality of circulate adrenocorticotropin level" ], "alt_id": [], "def": "An abnormal concentration of corticotropin in the blood.", "synonym": [ [ "abnormality of circulating acth level", "abnormality of circulate acth level" ], [ "abnormality of circulating adrenocorticotropic hormone level", "abnormality of circulate adrenocorticotropic hormone level" ], [ "abnormality of circulating adrenocorticotropin level", "abnormality of circulate adrenocorticotropin level" ], [ "abnormality of circulating corticotropin level", "abnormality of circulate corticotropin level" ] ], "xref": [ "UMLS:C4023574" ], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0011044": { "name": [ "abnormal number of permanent teeth", "abnormal number of permanent teeth" ], "alt_id": [], "def": "The presence of an altered number of of permanent teeth.", "synonym": [ [ "abnormal complement of permanent teeth", "abnormal complement of permanent teeth" ], [ "abnormal number of adult teeth", "abnormal number of adult teeth" ], [ "abnormal number of permanent teeth", "abnormal number of permanent teeth" ], [ "abnormal number of secondary dentition", "abnormal number of secondary dentition" ], [ "abnormal permanent tooth count", "abnormal permanent tooth count" ] ], "xref": [ "UMLS:C4023573" ], "is_a": [ "HP:0006483" ], "is_obsolete": "", "replace_id": "" }, "HP:0011045": { "name": [ "agenesis of permanent maxillary central incisor", "agenesis of permanent maxillary central incisor" ], "alt_id": [], "def": "Agenesis of upper secondary incisor.", "synonym": [ [ "absence of permanent maxillary central incisor", "absence of permanent maxillary central incisor" ], [ "absence of permanent upper central incisor", "absence of permanent upper central incisor" ], [ "absence of permanent upper front tooth", "absence of permanent upper front tooth" ], [ "agenesis of adult maxillary central incisor", "agenesis of adult maxillary central incisor" ], [ "failure of development of permanent maxillary central incisor", "failure of development of permanent maxillary central incisor" ], [ "missing adult upper central incisor", "miss adult upper central incisor" ], [ "missing permanent maxillary central incisor", "miss permanent maxillary central incisor" ], [ "missing permanent upper central incisor", "miss permanent upper central incisor" ], [ "missing permanent upper front tooth", "miss permanent upper front tooth" ] ], "xref": [ "UMLS:C4023572", "UMLS:C4280358", "UMLS:C4280359" ], "is_a": [ "HP:0006293" ], "is_obsolete": "", "replace_id": "" }, "HP:0011046": { "name": [ "agenesis of primary maxillary central incisor", "agenesis of primary maxillary central incisor" ], "alt_id": [], "def": "Agenesis of upper central primary incisor.", "synonym": [ [ "absence of deciduous maxillary central incisor", "absence of deciduous maxillary central incisor" ], [ "absence of primary maxillary central incisor", "absence of primary maxillary central incisor" ], [ "absence of upper front baby tooth", "absence of upper front baby tooth" ], [ "agenesis of deciduous maxillary central incisor", "agenesis of deciduous maxillary central incisor" ], [ "failure of development of deciduous maxillary central incisor", "failure of development of deciduous maxillary central incisor" ], [ "failure of development of primary maxillary central incisor", "failure of development of primary maxillary central incisor" ], [ "missing deciduous maxillary central incisor", "miss deciduous maxillary central incisor" ], [ "missing primary maxillary central incisor", "miss primary maxillary central incisor" ], [ "missing upper front baby tooth", "miss upper front baby tooth" ], [ "missing upper front milk tooth", "miss upper front milk tooth" ] ], "xref": [ "UMLS:C4023571", "UMLS:C4280357" ], "is_a": [ "HP:0006293" ], "is_obsolete": "", "replace_id": "" }, "HP:0011047": { "name": [ "agenesis of primary mandibular central incisor", "agenesis of primary mandibular central incisor" ], "alt_id": [], "def": "Agenesis of lower primary incisor.", "synonym": [ [ "absence of deciduous mandibular central incisor", "absence of deciduous mandibular central incisor" ], [ "absence of primary mandibular central incisor", "absence of primary mandibular central incisor" ], [ "agenesis of deciduous lower central incisor", "agenesis of deciduous low central incisor" ], [ "agenesis of primary lower central incisor", "agenesis of primary low central incisor" ], [ "failure of development of deciduous mandibular central incisor", "failure of development of deciduous mandibular central incisor" ], [ "failure of development of primary mandibular central incisor", "failure of development of primary mandibular central incisor" ], [ "missing deciduous mandibular central incisor", "miss deciduous mandibular central incisor" ], [ "missing lower central incisor milk tooth", "miss low central incisor milk tooth" ], [ "missing lower front baby tooth", "miss low front baby tooth" ], [ "missing lower front milk tooth", "miss low front milk tooth" ], [ "missing lower front primary tooth", "miss low front primary tooth" ], [ "missing primary mandibular central incisor", "miss primary mandibular central incisor" ] ], "xref": [ "UMLS:C4023570", "UMLS:C4280355", "UMLS:C4280356" ], "is_a": [ "HP:0006355" ], "is_obsolete": "", "replace_id": "" }, "HP:0011048": { "name": [ "agenesis of permanent mandibular central incisor", "agenesis of permanent mandibular central incisor" ], "alt_id": [], "def": "Agenesis of lower secondary incisor.", "synonym": [ [ "absence of permanent lower central incisor", "absence of permanent low central incisor" ], [ "absence of permanent lower front tooth", "absence of permanent low front tooth" ], [ "absence of permanent mandibular central incisor", "absence of permanent mandibular central incisor" ], [ "agenesis of adult mandibular central incisor", "agenesis of adult mandibular central incisor" ], [ "failure of development of permanent mandibular central incisor", "failure of development of permanent mandibular central incisor" ], [ "missing adult lower central incisor", "miss adult lower central incisor" ], [ "missing permanent lower central incisor", "miss permanent low central incisor" ], [ "missing permanent lower front tooth", "miss permanent low front tooth" ], [ "missing permanent mandibular central incisor", "miss permanent mandibular central incisor" ] ], "xref": [ "UMLS:C4023569", "UMLS:C4280354" ], "is_a": [ "HP:0006355" ], "is_obsolete": "", "replace_id": "" }, "HP:0011049": { "name": [ "agenesis of primary maxillary lateral incisor", "agenesis of primary maxillary lateral incisor" ], "alt_id": [], "def": "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor.", "synonym": [ [ "absence of deciduous maxillary lateral incisor", "absence of deciduous maxillary lateral incisor" ], [ "absence of primary maxillary lateral incisor", "absence of primary maxillary lateral incisor" ], [ "agenesis of deciduous maxillary lateral incisor", "agenesis of deciduous maxillary lateral incisor" ], [ "failure of development of deciduous maxillary lateral incisor", "failure of development of deciduous maxillary lateral incisor" ], [ "failure of development of primary maxillary lateral incisor", "failure of development of primary maxillary lateral incisor" ], [ "missing deciduous maxillary lateral incisor", "miss deciduous maxillary lateral incisor" ], [ "missing primary maxillary lateral incisor", "miss primary maxillary lateral incisor" ] ], "xref": [ "UMLS:C4023568", "UMLS:C4280353" ], "is_a": [ "HP:0000690" ], "is_obsolete": "", "replace_id": "" }, "HP:0011050": { "name": [ "agenesis of permanent maxillary lateral incisor", "agenesis of permanent maxillary lateral incisor" ], "alt_id": [], "def": "Agenesis of one or more upper lateral secondary incisor.", "synonym": [ [ "absence of permanent maxillary lateral incisor", "absence of permanent maxillary lateral incisor" ], [ "agenesis of permanent upper lateral incisor", "agenesis of permanent upper lateral incisor" ], [ "failure of development of permanent maxillary lateral incisor", "failure of development of permanent maxillary lateral incisor" ], [ "failure of development of permanent upper lateral incisor", "failure of development of permanent upper lateral incisor" ], [ "missing permanent maxillary lateral incisor", "miss permanent maxillary lateral incisor" ], [ "missing permanent upper lateral incisor", "miss permanent upper lateral incisor" ] ], "xref": [ "UMLS:C4023567", "UMLS:C4280352" ], "is_a": [ "HP:0000690" ], "is_obsolete": "", "replace_id": "" }, "HP:0011051": { "name": [ "agenesis of premolar", "agenesis of premolar" ], "alt_id": [], "def": "Agenesis of premolar tooth.", "synonym": [ [ "absence of bicuspid", "absence of bicuspid" ], [ "absence of premolar", "absence of premolar" ], [ "agenesis of bicuspid", "agenesis of bicuspid" ], [ "failure of development of bicuspid", "failure of development of bicuspid" ], [ "failure of development of premolar", "failure of development of premolar" ], [ "missing bicuspid", "miss bicuspid" ], [ "missing premolar", "miss premolar" ] ], "xref": [ "UMLS:C4023566", "UMLS:C4280351" ], "is_a": [ "HP:0001592", "HP:0011076" ], "is_obsolete": "", "replace_id": "" }, "HP:0011052": { "name": [ "agenesis of maxillary premolar", "agenesis of maxillary premolar" ], "alt_id": [], "def": "Agenesis of maxillary premolar.", "synonym": [ [ "absence of maxillary bicuspid", "absence of maxillary bicuspid" ], [ "absence of maxillary premolar", "absence of maxillary premolar" ], [ "absence of upper premolar", "absence of upper premolar" ], [ "agenesis of maxillary bicuspid", "agenesis of maxillary bicuspid" ], [ "failure of development of maxillary bicuspid", "failure of development of maxillary bicuspid" ], [ "failure of development of maxillary premolar", "failure of development of maxillary premolar" ], [ "missing maxillary premolar", "miss maxillary premolar" ], [ "missing upper bicuspid", "miss upper bicuspid" ], [ "missing upper premolar", "miss upper premolar" ] ], "xref": [ "UMLS:C4023565", "UMLS:C4280350" ], "is_a": [ "HP:0011051" ], "is_obsolete": "", "replace_id": "" }, "HP:0011053": { "name": [ "agenesis of mandibular premolar", "agenesis of mandibular premolar" ], "alt_id": [], "def": "Agenesis of mandibular premolar.", "synonym": [ [ "absence of lower premolar", "absence of low premolar" ], [ "absence of mandibular premolar", "absence of mandibular premolar" ], [ "failure of development of mandibular premolar", "failure of development of mandibular premolar" ], [ "missing lower premolar", "miss low premolar" ], [ "missing mandibular premolar", "miss mandibular premolar" ] ], "xref": [ "UMLS:C4023564", "UMLS:C4280349" ], "is_a": [ "HP:0011051" ], "is_obsolete": "", "replace_id": "" }, "HP:0011054": { "name": [ "agenesis of molar", "agenesis of molar" ], "alt_id": [], "def": "Agenesis of molar tooth.", "synonym": [ [ "absence of molar", "absence of molar" ], [ "absent molars", "absent molar" ], [ "failure of development of molar", "failure of development of molar" ], [ "missing molar", "miss molar" ] ], "xref": [ "UMLS:C4021203", "UMLS:C4280348" ], "is_a": [ "HP:0001592", "HP:0011077" ], "is_obsolete": "", "replace_id": "" }, "HP:0011055": { "name": [ "agenesis of permanent molar", "agenesis of permanent molar" ], "alt_id": [], "def": "Agenesis of secondary molar tooth.", "synonym": [ [ "absence of adult molar", "absence of adult molar" ], [ "absence of permanent molar", "absence of permanent molar" ], [ "agenesis of secondary molar", "agenesis of secondary molar" ], [ "failure of development of permanent molar", "failure of development of permanent molar" ], [ "failure of development of secondary molar", "failure of development of secondary molar" ], [ "missing adult molar", "miss adult molar" ], [ "missing permanent molar", "miss permanent molar" ] ], "xref": [ "UMLS:C4023563", "UMLS:C4280347" ], "is_a": [ "HP:0011054" ], "is_obsolete": "", "replace_id": "" }, "HP:0011056": { "name": [ "agenesis of first permanent molar tooth", "agenesis of first permanent molar tooth" ], "alt_id": [], "def": "Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.", "synonym": [ [ "absence of first permanent molar", "absence of first permanent molar" ], [ "absence of six year molar", "absence of six year molar" ], [ "agenesis of six year molar", "agenesis of six year molar" ], [ "failure of development of first permanent molar", "failure of development of first permanent molar" ], [ "failure of development of six year molar", "failure of development of six year molar" ], [ "missing first permanent molar", "miss first permanent molar" ], [ "missing six year molar", "miss six year molar" ] ], "xref": [ "UMLS:C4023562", "UMLS:C4280346" ], "is_a": [ "HP:0011055" ], "is_obsolete": "", "replace_id": "" }, "HP:0011057": { "name": [ "agenesis of second permanent molar", "agenesis of second permanent molar" ], "alt_id": [], "def": "Agenesis of either mandibular second permanent molar or maxillary second permanent molar.", "synonym": [ [ "absence of second permanent molar", "absence of second permanent molar" ], [ "absence of twelve year molar", "absence of twelve year molar" ], [ "agenesis of twelve year molar", "agenesis of twelve year molar" ], [ "failure of development of second permanent molar", "failure of development of second permanent molar" ], [ "failure of development of twelve year molar", "failure of development of twelve year molar" ], [ "missing second permanent molar", "miss second permanent molar" ], [ "missing twelve year molar", "miss twelve year molar" ] ], "xref": [ "UMLS:C4023561", "UMLS:C4280257" ], "is_a": [ "HP:0011055" ], "is_obsolete": "", "replace_id": "" }, "HP:0011058": { "name": [ "generalized periodontitis", "generalize periodontitis" ], "alt_id": [], "def": "A generalized form of periodontitis.", "synonym": [ [ "generalised gum disease", "generalise gum disease" ], [ "generalised periodontal disease", "generalise periodontal disease" ], [ "generalised periodontitis", "generalise periodontitis" ], [ "generalized gum disease", "generalize gum disease" ], [ "generalized periodontal disease", "generalize periodontal disease" ], [ "widespread gum disease", "widespread gum disease" ] ], "xref": [ "UMLS:C4023560", "UMLS:C4280345" ], "is_a": [ "HP:0000704" ], "is_obsolete": "", "replace_id": "" }, "HP:0011059": { "name": [ "localized periodontitis", "localize periodontitis" ], "alt_id": [], "def": "A localized form of periodontitis.", "synonym": [ [ "limited area of gum disease", "limited area of gum disease" ], [ "localised gum disease", "localise gum disease" ], [ "localised periodontal disease", "localise periodontal disease" ], [ "localised periodontitis", "localise periodontitis" ], [ "localized gum disease", "localize gum disease" ], [ "localized periodontal disease", "localize periodontal disease" ] ], "xref": [ "UMLS:C4023559", "UMLS:C4280344" ], "is_a": [ "HP:0000704" ], "is_obsolete": "", "replace_id": "" }, "HP:0011060": { "name": [ "dentinogenesis imperfecta limited to primary teeth", "dentinogenesis imperfecta limit to primary teeth" ], "alt_id": [], "def": "Developmental dysplasia of dentin affecting only the primary dentition.", "synonym": [ [ "dentinogenesis imperfecta of baby teeth", "dentinogenesis imperfecta of baby teeth" ] ], "xref": [ "MSH:D003805", "SNOMEDCT_US:109492001", "UMLS:C0011430", "UMLS:C4023558" ], "is_a": [ "HP:0000703" ], "is_obsolete": "", "replace_id": "" }, "HP:0011061": { "name": [ "abnormality of dental structure", "abnormality of dental structure" ], "alt_id": [], "def": "An abnormality of the structure or composition of the teeth.", "synonym": [ [ "abnormality of tooth part", "abnormality of tooth part" ], [ "abnormality of tooth structure", "abnormality of tooth structure" ] ], "xref": [ "UMLS:C4023557" ], "is_a": [ "HP:0000164" ], "is_obsolete": "", "replace_id": "" }, "HP:0011062": { "name": [ "misalignment of incisors", "misalignment of incisor" ], "alt_id": [], "def": "Misaligned incisor.", "synonym": [ [ "abnormality of alignment of incisors", "abnormality of alignment of incisor" ], [ "abnormality of position of incisors", "abnormality of position of incisor" ], [ "crooked front teeth", "crook front teeth" ], [ "crooked incisors", "crook incisor" ], [ "malposition of incisors", "malposition of incisor" ], [ "misalignment of incisors", "misalignment of incisor" ] ], "xref": [ "UMLS:C4023556", "UMLS:C4280343" ], "is_a": [ "HP:0000676", "HP:0000692" ], "is_obsolete": "", "replace_id": "" }, "HP:0011063": { "name": [ "abnormal incisor morphology", "abnormal incisor morphology" ], "alt_id": [], "def": "An abnormality of morphology of the incisor tooth.", "synonym": [ [ "abnormality of incisor morphology", "abnormality of incisor morphology" ], [ "abnormality of shape of incisor", "abnormality of shape of incisor" ] ], "xref": [ "UMLS:C4023555" ], "is_a": [ "HP:0000676", "HP:0006482" ], "is_obsolete": "", "replace_id": "" }, "HP:0011064": { "name": [ "abnormal number of incisors", "abnormal number of incisor" ], "alt_id": [], "def": "The presence of an altered number of the incisor teeth.", "synonym": [ [ "abnormal number of front teeth", "abnormal number of front teeth" ], [ "abnormal number of incisors", "abnormal number of incisor" ] ], "xref": [ "UMLS:C4023554" ], "is_a": [ "HP:0000676", "HP:0006483" ], "is_obsolete": "", "replace_id": "" }, "HP:0011065": { "name": [ "conical incisor", "conical incisor" ], "alt_id": [ "HP:0000673", "HP:0006345", "HP:0011066" ], "def": "An abnormal conical morphology of the incisor tooth.", "synonym": [ [ "cone shaped front tooth", "cone shape front tooth" ], [ "conoid incisor", "conoid incisor" ], [ "peg shaped front tooth", "peg shape front tooth" ], [ "peg shaped incisors", "peg shape incisor" ], [ "peg - shaped incisors", "peg - shaped incisor" ], [ "pointed front tooth", "point front tooth" ], [ "pointed incisor", "point incisor" ], [ "shark tooth incisor", "shark tooth incisor" ] ], "xref": [ "UMLS:C1856136", "UMLS:C4020759", "UMLS:C4280341", "UMLS:C4280342" ], "is_a": [ "HP:0000698", "HP:0011063" ], "is_obsolete": "", "replace_id": "" }, "HP:0011067": { "name": [ "mesiodens", "mesiodens" ], "alt_id": [], "def": "A supernumerary tooth in the midline between the maxillary central incisors.", "synonym": [ [ "extra tooth", "extra tooth" ], [ "extra tooth in the midline", "extra tooth in the midline" ], [ "median supernumary tooth", "median supernumary tooth" ], [ "mesiodentes", "mesiodentes" ], [ "midline supernumary tooth", "midline supernumary tooth" ] ], "xref": [ "MSH:D014096", "SNOMEDCT_US:17802000", "SNOMEDCT_US:266414008", "SNOMEDCT_US:367534004", "SNOMEDCT_US:8666004", "UMLS:C0040457", "UMLS:C0266030", "UMLS:C4280340" ], "is_a": [ "HP:0011069" ], "is_obsolete": "", "replace_id": "" }, "HP:0011068": { "name": [ "odontoma", "odontoma" ], "alt_id": [], "def": "The presence of an odontoma.", "synonym": [ [ "odontomas", "odontomas" ] ], "xref": [ "MSH:D009810", "SNOMEDCT_US:79074005", "UMLS:C0028882" ], "is_a": [ "HP:0010566", "HP:0100612" ], "is_obsolete": "", "replace_id": "" }, "HP:0011069": { "name": [ "supernumerary tooth", "supernumerary tooth" ], "alt_id": [ "HP:0000672" ], "def": "The presence of one or more teeth additional to the normal number.", "synonym": [ [ "extra teeth", "extra teeth" ], [ "hyperdontia", "hyperdontia" ], [ "increased number of teeth", "increased number of teeth" ], [ "increased tooth count", "increase tooth count" ], [ "more teeth than normal", "more teeth than normal" ], [ "supernumary dentition", "supernumary dentition" ], [ "supernumary teeth", "supernumary teeth" ], [ "supernumerary teeth", "supernumerary teeth" ], [ "supplemental dentition", "supplemental dentition" ], [ "supplemental teeth", "supplemental teeth" ], [ "tooth , supernumerary", "tooth , supernumerary" ] ], "xref": [ "MSH:D014096", "SNOMEDCT_US:266414008", "SNOMEDCT_US:367534004", "SNOMEDCT_US:8666004", "UMLS:C0040457" ], "is_a": [ "HP:0006483" ], "is_obsolete": "", "replace_id": "" }, "HP:0011070": { "name": [ "abnormal molar morphology", "abnormal molar morphology" ], "alt_id": [], "def": "An abnormality of morphology of molar tooth.", "synonym": [ [ "abnormal shape of molar tooth", "abnormal shape of molar tooth" ], [ "abnormality of molar morphology", "abnormality of molar morphology" ] ], "xref": [ "UMLS:C4023553" ], "is_a": [ "HP:0006482", "HP:0011077" ], "is_obsolete": "", "replace_id": "" }, "HP:0011071": { "name": [ "abnormality of permanent molar morphology", "abnormality of permanent molar morphology" ], "alt_id": [], "def": "An abnormality of morphology of permanent molar.", "synonym": [ [ "abnormality of shape of adult molar", "abnormality of shape of adult molar" ], [ "abnormality of shape of permanent molar", "abnormality of shape of permanent molar" ] ], "xref": [ "UMLS:C4023552" ], "is_a": [ "HP:0011070" ], "is_obsolete": "", "replace_id": "" }, "HP:0011072": { "name": [ "rootless teeth", "rootless teeth" ], "alt_id": [], "def": "", "synonym": [ [ "absence of tooth root", "absence of tooth root" ], [ "agenesis of tooth root", "agenesis of tooth root" ], [ "aplasia of tooth root", "aplasia of tooth root" ], [ "missing tooth root", "miss tooth root" ], [ "rootless teeth", "rootless teeth" ], [ "teeth without roots", "teeth without root" ], [ "tooth with dentin dysplasia type i", "tooth with dentin dysplasia type i" ] ], "xref": [ "MSH:C538215", "SNOMEDCT_US:109493006", "UMLS:C0399379", "UMLS:C4082200" ], "is_a": [ "HP:0006486" ], "is_obsolete": "", "replace_id": "" }, "HP:0011073": { "name": [ "abnormality of dental color", "abnormality of dental color" ], "alt_id": [], "def": "A developmental defect of tooth color.", "synonym": [ [ "abnormality of dental color", "abnormality of dental color" ], [ "abnormality of dental colour", "abnormality of dental colour" ], [ "abnormality of dental shade", "abnormality of dental shade" ], [ "abnormality of tooth color", "abnormality of tooth color" ], [ "abnormality of tooth colour", "abnormality of tooth colour" ], [ "abnormality of tooth shade", "abnormality of tooth shade" ] ], "xref": [ "UMLS:C4023551" ], "is_a": [ "HP:0011061" ], "is_obsolete": "", "replace_id": "" }, "HP:0011074": { "name": [ "localized hypoplasia of dental enamel", "localized hypoplasia of dental enamel" ], "alt_id": [], "def": "A localized form of developmental hypoplasia of the dental enamel.", "synonym": [ [ "localised dysplasia of tooth enamel", "localised dysplasia of tooth enamel" ], [ "localised hypoplasia of dental enamel", "localised hypoplasia of dental enamel" ], [ "localised hypoplasia of tooth enamel", "localised hypoplasia of tooth enamel" ], [ "localized dysplasia of tooth enamel", "localized dysplasia of tooth enamel" ], [ "localized hypoplasia of tooth enamel", "localized hypoplasia of tooth enamel" ] ], "xref": [ "UMLS:C4023550", "UMLS:C4280339" ], "is_a": [ "HP:0006297" ], "is_obsolete": "", "replace_id": "" }, "HP:0011075": { "name": [ "green teeth", "green teeth" ], "alt_id": [], "def": "A green staining of teeth.", "synonym": [ [ "green colored teeth", "green color teeth" ], [ "green coloured teeth", "green colour teeth" ], [ "green teeth", "green teeth" ], [ "green tooth shade", "green tooth shade" ] ], "xref": [ "UMLS:C4023549" ], "is_a": [ "HP:0011073" ], "is_obsolete": "", "replace_id": "" }, "HP:0011076": { "name": [ "abnormality of premolar", "abnormality of premolar" ], "alt_id": [], "def": "An abnormality of premolar tooth.", "synonym": [ [ "abnormality of bicuspid", "abnormality of bicuspid" ], [ "abnormality of premolar", "abnormality of premolar" ] ], "xref": [ "UMLS:C4023548" ], "is_a": [ "HP:0000164" ], "is_obsolete": "", "replace_id": "" }, "HP:0011077": { "name": [ "abnormality of molar", "abnormality of molar" ], "alt_id": [], "def": "An abnormality of molar tooth.", "synonym": [ [ "abnormality of molar", "abnormality of molar" ] ], "xref": [ "UMLS:C4023547" ], "is_a": [ "HP:0000164" ], "is_obsolete": "", "replace_id": "" }, "HP:0011078": { "name": [ "abnormality of canine", "abnormality of canine" ], "alt_id": [], "def": "An abnormality of canine tooth.", "synonym": [ [ "abnormality of canine", "abnormality of canine" ], [ "abnormality of eye tooth", "abnormality of eye tooth" ] ], "xref": [ "UMLS:C4023546" ], "is_a": [ "HP:0000164" ], "is_obsolete": "", "replace_id": "" }, "HP:0011079": { "name": [ "impacted tooth", "impact tooth" ], "alt_id": [], "def": "A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).", "synonym": [ [ "buried tooth", "bury tooth" ], [ "impacted tooth", "impact tooth" ], [ "retained tooth", "retain tooth" ] ], "xref": [ "MSH:D014095", "SNOMEDCT_US:129263008", "SNOMEDCT_US:235104008", "UMLS:C0040456", "UMLS:C4280338" ], "is_a": [ "HP:0000706" ], "is_obsolete": "", "replace_id": "" }, "HP:0011080": { "name": [ "abnormal premolar morphology", "abnormal premolar morphology" ], "alt_id": [], "def": "An abnormality of morphology of premolar tooth.", "synonym": [ [ "abnormality of bicuspid morphology", "abnormality of bicuspid morphology" ], [ "abnormality of premolar morphology", "abnormality of premolar morphology" ], [ "abnormality of shape of bicuspid", "abnormality of shape of bicuspid" ], [ "abnormality of shape of premolar", "abnormality of shape of premolar" ] ], "xref": [ "UMLS:C4023545" ], "is_a": [ "HP:0006482", "HP:0011076" ], "is_obsolete": "", "replace_id": "" }, "HP:0011081": { "name": [ "incisor macrodontia", "incisor macrodontia" ], "alt_id": [], "def": "Increased size of the incisor tooth.", "synonym": [ [ "hyperplasia of incisor", "hyperplasia of incisor" ], [ "hypertrophy of incisor", "hypertrophy of incisor" ], [ "increased size of incisor", "increase size of incisor" ], [ "increased width of incisor", "increase width of incisor" ], [ "large incisor", "large incisor" ] ], "xref": [ "UMLS:C4023544", "UMLS:C4280337" ], "is_a": [ "HP:0001572", "HP:0011063" ], "is_obsolete": "", "replace_id": "" }, "HP:0011082": { "name": [ "conical primary incisor", "conical primary incisor" ], "alt_id": [], "def": "An abnormal conical morphology of the primary incisor.", "synonym": [ [ "cone shaped front baby tooth", "cone shape front baby tooth" ], [ "conical deciduous incisor", "conical deciduous incisor" ], [ "conoid primary incisor", "conoid primary incisor" ], [ "peg shaped front baby tooth", "peg shape front baby tooth" ], [ "peg shaped primary incisor", "peg shape primary incisor" ], [ "pointed front baby tooth", "point front baby tooth" ], [ "pointed primary incisor", "point primary incisor" ], [ "primary front shark tooth", "primary front shark tooth" ] ], "xref": [ "UMLS:C4023543" ], "is_a": [ "HP:0011065" ], "is_obsolete": "", "replace_id": "" }, "HP:0011083": { "name": [ "conical maxillary incisor", "conical maxillary incisor" ], "alt_id": [], "def": "An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both.", "synonym": [ [ "cone shaped maxillary incisor", "cone shape maxillary incisor" ], [ "cone shaped upper front tooth", "cone shape upper front tooth" ], [ "conoid maxillary incisor", "conoid maxillary incisor" ], [ "peg shaped upper front tooth", "peg shape upper front tooth" ], [ "pointed maxillary incisor", "point maxillary incisor" ], [ "pointed upper front tooth", "point upper front tooth" ], [ "upper front shark tooth", "upper front shark tooth" ] ], "xref": [ "UMLS:C4023542" ], "is_a": [ "HP:0011065" ], "is_obsolete": "", "replace_id": "" }, "HP:0011084": { "name": [ "hypocalcification of dental enamel", "hypocalcification of dental enamel" ], "alt_id": [], "def": "A form of hypomineralization of enamel characterized by reduced calcification.", "synonym": [ [ "decreased enamel calcification", "decrease enamel calcification" ], [ "poorly calcified tooth enamel", "poorly calcify tooth enamel" ] ], "xref": [ "UMLS:C4023541" ], "is_a": [ "HP:0006285" ], "is_obsolete": "", "replace_id": "" }, "HP:0011085": { "name": [ "hypomature dental enamel", "hypomature dental enamel" ], "alt_id": [], "def": "A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.", "synonym": [ [ "immature tooth enamel", "immature tooth enamel" ], [ "soft teeth", "soft teeth" ], [ "soft tooth enamel", "soft tooth enamel" ] ], "xref": [ "UMLS:C4023540", "UMLS:C4280266", "UMLS:C4280336" ], "is_a": [ "HP:0006285" ], "is_obsolete": "", "replace_id": "" }, "HP:0011086": { "name": [ "dentinogenesis imperfecta of primary and permanent teeth", "dentinogenesis imperfecta of primary and permanent teeth" ], "alt_id": [], "def": "Developmental dysplasia of dentin or both the primary dentition and the permanent dentition.", "synonym": [ [ "dentinogenesis imperfecta of adult and baby teeth", "dentinogenesis imperfecta of adult and baby teeth" ], [ "dentinogenesis imperfecta of both sets of teeth", "dentinogenesis imperfecta of both set of teeth" ] ], "xref": [ "UMLS:C4023539" ], "is_a": [ "HP:0000703" ], "is_obsolete": "", "replace_id": "" }, "HP:0011087": { "name": [ "talon cusp", "talon cusp" ], "alt_id": [], "def": "Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).", "synonym": [ [ "dens evaginatus", "den evaginatus" ], [ "extra cusp on inside of front tooth", "extra cusp on inside of front tooth" ], [ "talon cusps", "talon cusp" ] ], "xref": [ "SNOMEDCT_US:234955005", "SNOMEDCT_US:63691004", "UMLS:C0266034", "UMLS:C0399357", "UMLS:C4280335" ], "is_a": [ "HP:0033777" ], "is_obsolete": "", "replace_id": "" }, "HP:0011088": { "name": [ "dens in dente", "den in dente" ], "alt_id": [], "def": "An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth.", "synonym": [ [ "dens invaginatus", "den invaginatus" ], [ "tooth within a tooth", "tooth within a tooth" ] ], "xref": [ "MSH:D003719", "SNOMEDCT_US:55197001", "UMLS:C0011320" ], "is_a": [ "HP:0011063" ], "is_obsolete": "", "replace_id": "" }, "HP:0011089": { "name": [ "double tooth", "double tooth" ], "alt_id": [], "def": "Fusion of two adjacent teeth.", "synonym": [ [ "conjoined teeth", "conjoin teeth" ], [ "double tooth", "double tooth" ], [ "teeth , double", "teeth , double" ], [ "twinning tooth", "twin tooth" ] ], "xref": [ "MSH:D005671", "SNOMEDCT_US:1744008", "UMLS:C0016873" ], "is_a": [ "HP:0006482" ], "is_obsolete": "", "replace_id": "" }, "HP:0011090": { "name": [ "fused teeth", "fuse teeth" ], "alt_id": [], "def": "The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.", "synonym": [ [ "fused teeth", "fuse teeth" ], [ "fusion of teeth", "fusion of teeth" ], [ "joined teeth", "join teeth" ] ], "xref": [ "MSH:D005671", "SNOMEDCT_US:1744008", "UMLS:C0016873" ], "is_a": [ "HP:0011089" ], "is_obsolete": "", "replace_id": "" }, "HP:0011091": { "name": [ "gemination", "gemination" ], "alt_id": [], "def": "The development of two teeth from a single tooth bud, leading to a larger fused tooth.", "synonym": [ [ "gemination of tooth", "gemination of tooth" ], [ "splitting of crown of tooth", "splitting of crown of tooth" ] ], "xref": [ "SNOMEDCT_US:40273006", "UMLS:C0266033" ], "is_a": [ "HP:0011089" ], "is_obsolete": "", "replace_id": "" }, "HP:0011092": { "name": [ "mulberry molar", "mulberry molar" ], "alt_id": [], "def": "Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry.", "synonym": [ [ "syphilitic permanent first molar", "syphilitic permanent first molar" ] ], "xref": [ "SNOMEDCT_US:109436001", "UMLS:C0266024" ], "is_a": [ "HP:0011070", "HP:0033777" ], "is_obsolete": "", "replace_id": "" }, "HP:0011093": { "name": [ "molarization of premolar", "molarization of premolar" ], "alt_id": [], "def": "Increased size and molar morphology of premolar tooth.", "synonym": [ [ "enlarged premolar", "enlarge premolar" ], [ "increased size of premolar", "increase size of premolar" ], [ "molar shape of bicuspid", "molar shape of bicuspid" ], [ "molar shape of premolar", "molar shape of premolar" ], [ "molarization of bicuspid", "molarization of bicuspid" ] ], "xref": [ "UMLS:C1404304", "UMLS:C4280334" ], "is_a": [ "HP:0011080" ], "is_obsolete": "", "replace_id": "" }, "HP:0011094": { "name": [ "increased overbite", "increase overbite" ], "alt_id": [], "def": "Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.", "synonym": [ [ "deep bite", "deep bite" ], [ "deep overbite", "deep overbite" ], [ "increased overlap of upper and lower incisors", "increase overlap of upper and low incisor" ], [ "overbite", "overbite" ], [ "scissors bite", "scissors bite" ], [ "supraocclusion", "supraocclusion" ] ], "xref": [ "MSH:D057887", "SNOMEDCT_US:10816007", "SNOMEDCT_US:251293001", "SNOMEDCT_US:60476005", "SNOMEDCT_US:63783001", "UMLS:C0266063", "UMLS:C0266067", "UMLS:C1305740" ], "is_a": [ "HP:0000692" ], "is_obsolete": "", "replace_id": "" }, "HP:0011095": { "name": [ "overjet", "overjet" ], "alt_id": [], "def": "An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.", "synonym": [ [ "abnormality of horizontal incisor relationship", "abnormality of horizontal incisor relationship" ], [ "buck teeth", "buck teeth" ], [ "protrusion of the maxillary incisors", "protrusion of the maxillary incisor" ], [ "protrusion of upper teeth in front of lower teeth", "protrusion of upper teeth in front of low teeth" ], [ "upper teeth sticking out forward", "upper teeth stick out forward" ] ], "xref": [ "MSH:D057887", "SNOMEDCT_US:251292006", "SNOMEDCT_US:70305005", "UMLS:C0596028" ], "is_a": [ "HP:0000692" ], "is_obsolete": "", "replace_id": "" }, "HP:0011096": { "name": [ "peripheral demyelination", "peripheral demyelination" ], "alt_id": [ "HP:0003381", "HP:0006939", "HP:0007282" ], "def": "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.", "synonym": [ [ "demyelination", "demyelination" ] ], "xref": [ "UMLS:C0878575" ], "is_a": [ "HP:0003130" ], "is_obsolete": "", "replace_id": "" }, "HP:0011097": { "name": [ "epileptic spasm", "epileptic spasm" ], "alt_id": [], "def": "A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages", "synonym": [ [ "epileptic spasms", "epileptic spasm" ], [ "salaam convulsion", "salaam convulsion" ], [ "salaam convulsions", "salaam convulsion" ], [ "salaam seizure", "salaam seizure" ], [ "salaam seizures", "salaam seizure" ], [ "west syndrome", "west syndrome" ] ], "xref": [ "MSH:D013036", "SNOMEDCT_US:28055006", "UMLS:C0037769", "UMLS:C1527366" ], "is_a": [ "HP:0020219" ], "is_obsolete": "", "replace_id": "" }, "HP:0011098": { "name": [ "speech apraxia", "speech apraxia" ], "alt_id": [], "def": "A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.", "synonym": [ [ "apraxia of speech", "apraxia of speech" ], [ "verbal dyspraxia", "verbal dyspraxia" ] ], "xref": [ "MSH:D001072", "SNOMEDCT_US:361276003", "SNOMEDCT_US:361277007", "SNOMEDCT_US:74227009", "UMLS:C0264611", "UMLS:C0349391" ], "is_a": [ "HP:0002186" ], "is_obsolete": "", "replace_id": "" }, "HP:0011099": { "name": [ "spastic hemiparesis", "spastic hemiparesis" ], "alt_id": [], "def": "Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes.", "synonym": [ [ "spastic hemiplegia", "spastic hemiplegia" ] ], "xref": [ "MSH:D006429", "SNOMEDCT_US:79633009", "UMLS:C0154694" ], "is_a": [ "HP:0001257", "HP:0001269" ], "is_obsolete": "", "replace_id": "" }, "HP:0011100": { "name": [ "intestinal atresia", "intestinal atresia" ], "alt_id": [], "def": "An abnormal closure, or atresia of the tubular structure of the intestine.", "synonym": [], "xref": [ "MSH:D007409", "UMLS:C0021828" ], "is_a": [ "HP:0002242", "HP:0002589" ], "is_obsolete": "", "replace_id": "" }, "HP:0011102": { "name": [ "ileal atresia", "ileal atresia" ], "alt_id": [], "def": "An abnormal closure, or atresia of the tubular structure of the ileum.", "synonym": [], "xref": [ "SNOMEDCT_US:25896009", "UMLS:C0266176" ], "is_a": [ "HP:0001549", "HP:0011100" ], "is_obsolete": "", "replace_id": "" }, "HP:0011103": { "name": [ "abnormal left ventricular outflow tract morphology", "abnormal leave ventricular outflow tract morphology" ], "alt_id": [], "def": "An abnormality of the outflow tract of the left ventricle.", "synonym": [ [ "abnormality of the left ventricular outflow tract", "abnormality of the left ventricular outflow tract" ] ], "xref": [ "SNOMEDCT_US:253545000", "UMLS:C0344916" ], "is_a": [ "HP:0001711" ], "is_obsolete": "", "replace_id": "" }, "HP:0011104": { "name": [ "abnormality of blood volume homeostasis", "abnormality of blood volume homeostasis" ], "alt_id": [], "def": "An abnormality in the amount of volume occupied by intravascular blood.", "synonym": [], "xref": [ "UMLS:C4023537" ], "is_a": [ "HP:0011028" ], "is_obsolete": "", "replace_id": "" }, "HP:0011105": { "name": [ "hypervolemia", "hypervolemia" ], "alt_id": [], "def": "An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood.", "synonym": [ [ "fluid overload in blood", "fluid overload in blood" ] ], "xref": [ "SNOMEDCT_US:21639008", "UMLS:C0546817" ], "is_a": [ "HP:0011104" ], "is_obsolete": "", "replace_id": "" }, "HP:0011106": { "name": [ "hypovolemia", "hypovolemia" ], "alt_id": [], "def": "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.", "synonym": [ [ "depleted blood volume", "deplete blood volume" ] ], "xref": [ "MSH:D020896", "SNOMEDCT_US:28560003", "UMLS:C0546884" ], "is_a": [ "HP:0011104" ], "is_obsolete": "", "replace_id": "" }, "HP:0011107": { "name": [ "recurrent aphthous stomatitis", "recurrent aphthous stomatitis" ], "alt_id": [], "def": "Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.", "synonym": [ [ "aphthous stomatitis", "aphthous stomatitis" ], [ "buccal aphthous ulcers", "buccal aphthous ulcer" ], [ "recurrent aphthous ulcers", "recurrent aphthous ulcer" ], [ "recurrent canker sores", "recurrent canker sore" ], [ "recurrent oral aphthae", "recurrent oral aphthae" ] ], "xref": [ "MSH:D013281", "SNOMEDCT_US:110426005", "SNOMEDCT_US:398870000", "SNOMEDCT_US:426965005", "SNOMEDCT_US:427617000", "UMLS:C0038363", "UMLS:C2937365" ], "is_a": [ "HP:0010280", "HP:0032154" ], "is_obsolete": "", "replace_id": "" }, "HP:0011108": { "name": [ "recurrent sinusitis", "recurrent sinusitis" ], "alt_id": [], "def": "A recurrent form of sinusitis.", "synonym": [ [ "recurrent sinus disease", "recurrent sinus disease" ], [ "sinusitis , recurrent", "sinusitis , recurrent" ] ], "xref": [ "SNOMEDCT_US:195788001", "UMLS:C0581354", "UMLS:C4280333" ], "is_a": [ "HP:0000246", "HP:0002788" ], "is_obsolete": "", "replace_id": "" }, "HP:0011109": { "name": [ "chronic sinusitis", "chronic sinusitis" ], "alt_id": [], "def": "A chronic form of sinusitis.", "synonym": [ [ "chronic sinus disease", "chronic sinus disease" ], [ "sinusitis , chronic", "sinusitis , chronic" ] ], "xref": [ "SNOMEDCT_US:40055000", "UMLS:C0149516", "UMLS:C0748720" ], "is_a": [ "HP:0000246" ], "is_obsolete": "", "replace_id": "" }, "HP:0011110": { "name": [ "recurrent tonsillitis", "recurrent tonsillitis" ], "alt_id": [], "def": "Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.", "synonym": [ [ "recurrent inflammation of tonsils", "recurrent inflammation of tonsil" ] ], "xref": [ "MSH:D014069", "SNOMEDCT_US:90176007", "UMLS:C0040425" ], "is_a": [ "HP:0002719", "HP:0100765" ], "is_obsolete": "", "replace_id": "" }, "HP:0011111": { "name": [ "abnormality of immune serum protein physiology", "abnormality of immune serum protein physiology" ], "alt_id": [], "def": "An abnormality of the concentration or function of circulating immune proteins.", "synonym": [], "xref": [ "UMLS:C4023536" ], "is_a": [ "HP:0010978" ], "is_obsolete": "", "replace_id": "" }, "HP:0011112": { "name": [ "abnormality of serum cytokine level", "abnormality of serum cytokine level" ], "alt_id": [], "def": "Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.", "synonym": [], "xref": [ "MP:0010210", "UMLS:C4023535" ], "is_a": [ "HP:0011111" ], "is_obsolete": "", "replace_id": "" }, "HP:0011113": { "name": [ "abnormality of cytokine secretion", "abnormality of cytokine secretion" ], "alt_id": [], "def": "An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells).", "synonym": [], "xref": [ "MP:0003009", "UMLS:C4023534" ], "is_a": [ "HP:0011111" ], "is_obsolete": "", "replace_id": "" }, "HP:0011114": { "name": [ "defective production of nfkb1 - dependent cytokines", "defective production of nfkb1 - dependent cytokine" ], "alt_id": [], "def": "An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha.", "synonym": [], "xref": [ "UMLS:C4023533" ], "is_a": [ "HP:0011113" ], "is_obsolete": "", "replace_id": "" }, "HP:0011115": { "name": [ "abnormality of chemokine secretion", "abnormality of chemokine secretion" ], "alt_id": [], "def": "An abnormality in the production or cellular release of a chemokine (a class of cytokines).", "synonym": [], "xref": [ "UMLS:C4023532" ], "is_a": [ "HP:0011113" ], "is_obsolete": "", "replace_id": "" }, "HP:0011116": { "name": [ "abnormality of interferon secretion", "abnormality of interferon secretion" ], "alt_id": [], "def": "An abnormality in the production or cellular release of interferons (a class of cytokines).", "synonym": [], "xref": [ "UMLS:C4023531" ], "is_a": [ "HP:0011113" ], "is_obsolete": "", "replace_id": "" }, "HP:0011117": { "name": [ "abnormality of interleukin secretion", "abnormality of interleukin secretion" ], "alt_id": [], "def": "An abnormality in the production or cellular release of interleukins (a class of cytokines).", "synonym": [ [ "abnormality of il secretion", "abnormality of il secretion" ] ], "xref": [ "UMLS:C4023530" ], "is_a": [ "HP:0011113" ], "is_obsolete": "", "replace_id": "" }, "HP:0011118": { "name": [ "abnormality of tumor necrosis factor secretion", "abnormality of tumor necrosis factor secretion" ], "alt_id": [], "def": "An abnormality in the production or cellular release of tumor necrosis factor.", "synonym": [ [ "abnormality of cachectin secretion", "abnormality of cachectin secretion" ], [ "abnormality of cachexin secretion", "abnormality of cachexin secretion" ], [ "abnormality of tumour necrosis factor secretion", "abnormality of tumour necrosis factor secretion" ] ], "xref": [ "MP:0008556", "UMLS:C4023529" ], "is_a": [ "HP:0011113" ], "is_obsolete": "", "replace_id": "" }, "HP:0011119": { "name": [ "abnormality of the nasal dorsum", "abnormality of the nasal dorsum" ], "alt_id": [], "def": "An abnormality of the nasal dorsum, also known as the nasal ridge.", "synonym": [ [ "abnormal morphology of dorsum of nose", "abnormal morphology of dorsum of nose" ], [ "abnormality of the dorsum of nose", "abnormality of the dorsum of nose" ], [ "abnormality of the nasal ridge", "abnormality of the nasal ridge" ], [ "anomaly of the nasal ridge", "anomaly of the nasal ridge" ], [ "crooked dorsum of nose", "crook dorsum of nose" ], [ "crooked nasal dorsum", "crook nasal dorsum" ], [ "crooked nasal ridge", "crook nasal ridge" ], [ "deformity of the dorsum of the nose", "deformity of the dorsum of the nose" ], [ "deformity of the nasal dorsum", "deformity of the nasal dorsum" ], [ "deformity of the nasal ridge", "deformity of the nasal ridge" ], [ "malformation of the dorsum of nose", "malformation of the dorsum of nose" ], [ "malformation of the nasal dorsum", "malformation of the nasal dorsum" ], [ "malformation of the nasal ridge", "malformation of the nasal ridge" ] ], "xref": [ "UMLS:C4021202", "UMLS:C4280332" ], "is_a": [ "HP:0010938" ], "is_obsolete": "", "replace_id": "" }, "HP:0011120": { "name": [ "concave nasal ridge", "concave nasal ridge" ], "alt_id": [], "def": "Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.", "synonym": [ [ "boxer 's nasal deformity", "boxer 's nasal deformity" ], [ "boxer 's nose deformity", "boxer 's nose deformity" ], [ "concave dorsum of nose", "concave dorsum of nose" ], [ "concave nasal dorsum", "concave nasal dorsum" ], [ "saddle nose", "saddle nose" ], [ "saddle nose deformity", "saddle nose deformity" ], [ "saddle shaped nasal dorsum", "saddle shape nasal dorsum" ], [ "ski jump nose", "ski jump nose" ] ], "xref": [ "SNOMEDCT_US:710234009", "UMLS:C0264169" ], "is_a": [ "HP:0011119" ], "is_obsolete": "", "replace_id": "" }, "HP:0011121": { "name": [ "abnormality of skin morphology", "abnormality of skin morphology" ], "alt_id": [], "def": "Any morphological abnormality of the skin.", "synonym": [ [ "abnormal skin morphology", "abnormal skin morphology" ], [ "abnormal skin structure", "abnormal skin structure" ] ], "xref": [ "Fyler:4133", "UMLS:C4023528" ], "is_a": [ "HP:0000951" ], "is_obsolete": "", "replace_id": "" }, "HP:0011122": { "name": [ "abnormality of skin physiology", "abnormality of skin physiology" ], "alt_id": [], "def": "Any abnormality of the physiological function of the skin.", "synonym": [ [ "abnormality of skin physiology", "abnormality of skin physiology" ] ], "xref": [ "UMLS:C4023527" ], "is_a": [ "HP:0000951" ], "is_obsolete": "", "replace_id": "" }, "HP:0011123": { "name": [ "inflammatory abnormality of the skin", "inflammatory abnormality of the skin" ], "alt_id": [ "HP:0002727", "HP:0007423" ], "def": "The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.", "synonym": [ [ "abnormal tendency to infections of the skin", "abnormal tendency to infection of the skin" ], [ "dermatitis", "dermatitis" ], [ "inflammatory abnormality of the skin", "inflammatory abnormality of the skin" ], [ "inflammatory skin disease", "inflammatory skin disease" ], [ "skin inflammation", "skin inflammation" ] ], "xref": [ "MP:0004947", "MSH:D003872", "SNOMEDCT_US:703938007", "UMLS:C0011603", "UMLS:C3875321" ], "is_a": [ "HP:0011122", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0011124": { "name": [ "abnormal epidermal morphology", "abnormal epidermal morphology" ], "alt_id": [], "def": "An abnormality of the morphology of the epidermis.", "synonym": [ [ "abnormality of epidermal morphology", "abnormality of epidermal morphology" ] ], "xref": [ "UMLS:C4023526" ], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0011125": { "name": [ "abnormality of dermal melanosomes", "abnormality of dermal melanosomes" ], "alt_id": [], "def": "An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis).", "synonym": [], "xref": [ "UMLS:C4023525" ], "is_a": [ "HP:0001000" ], "is_obsolete": "", "replace_id": "" }, "HP:0011126": { "name": [ "nephroptosis", "nephroptosis" ], "alt_id": [], "def": "A significant descent of the kidney as the patient moves from the supine to the erect position.", "synonym": [ [ "floating kidney", "float kidney" ], [ "renal ptosis", "renal ptosis" ] ], "xref": [ "UMLS:C1384594" ], "is_a": [ "HP:0100542" ], "is_obsolete": "", "replace_id": "" }, "HP:0011127": { "name": [ "perioral eczema", "perioral eczema" ], "alt_id": [], "def": "A type of eczema that occurs in the lips and perioral area.", "synonym": [ [ "eczema around the mouth", "eczema around the mouth" ] ], "xref": [ "UMLS:C1396126" ], "is_a": [ "HP:0000964" ], "is_obsolete": "", "replace_id": "" }, "HP:0011128": { "name": [ "acute esophageal necrosis", "acute esophageal necrosis" ], "alt_id": [], "def": "A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction.", "synonym": [], "xref": [ "UMLS:C4023524" ], "is_a": [ "HP:0002031" ], "is_obsolete": "", "replace_id": "" }, "HP:0011129": { "name": [ "bilateral fetal pyelectasis", "bilateral fetal pyelectasis" ], "alt_id": [], "def": "A bilateral form of fetal pyelectasis.", "synonym": [ [ "bilateral fetal pyelectasia", "bilateral fetal pyelectasia" ], [ "bilateral foetal pyelectasia", "bilateral foetal pyelectasia" ], [ "bilateral foetal pyelectasis", "bilateral foetal pyelectasis" ] ], "xref": [ "UMLS:C4023523" ], "is_a": [ "HP:0010945" ], "is_obsolete": "", "replace_id": "" }, "HP:0011130": { "name": [ "abnormal renal calyx morphology", "abnormal renal calyx morphology" ], "alt_id": [], "def": "Any abnormality of the morphology of the major calices or minor calices of the kidney.", "synonym": [ [ "abnormality of renal calyx morphology", "abnormality of renal calyx morphology" ] ], "xref": [ "UMLS:C4023522" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0011131": { "name": [ "perianal rash", "perianal rash" ], "alt_id": [], "def": "The presence of a rash (change of color and texture) of the perianal skin.", "synonym": [], "xref": [ "UMLS:C0240705" ], "is_a": [ "HP:0004378" ], "is_obsolete": "", "replace_id": "" }, "HP:0011132": { "name": [ "chronic furunculosis", "chronic furunculosis" ], "alt_id": [], "def": "A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.", "synonym": [], "xref": [ "UMLS:C4023521" ], "is_a": [ "HP:0005406" ], "is_obsolete": "", "replace_id": "" }, "HP:0011133": { "name": [ "increased sensitivity to ionizing radiation", "increase sensitivity to ionize radiation" ], "alt_id": [], "def": "An abnormally increased sensitivity to the effects of ionizing radiation.", "synonym": [ [ "increased sensitivity to ionising radiation", "increase sensitivity to ionise radiation" ] ], "xref": [ "UMLS:C4021850" ], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:0011134": { "name": [ "low - grade fever", "low - grade fever" ], "alt_id": [], "def": "Mild fever that does not exceed 38.5 degrees centigrade.", "synonym": [ [ "low - grade fever", "low - grade fever" ], [ "mild fever", "mild fever" ] ], "xref": [ "SNOMEDCT_US:304213008", "UMLS:C0239574" ], "is_a": [ "HP:0001945" ], "is_obsolete": "", "replace_id": "" }, "HP:0011135": { "name": [ "aplasia / hypoplasia of the sweat glands", "aplasia / hypoplasia of the sweat gland" ], "alt_id": [], "def": "Absence or developmental hypoplasia of the sweat glands.", "synonym": [ [ "absent / small sweat glands", "absent / small sweat gland" ], [ "absent / underdeveloped sweat glands", "absent / underdevelop sweat gland" ] ], "xref": [ "UMLS:C4023520" ], "is_a": [ "HP:0000971" ], "is_obsolete": "", "replace_id": "" }, "HP:0011136": { "name": [ "aplasia of the sweat glands", "aplasia of the sweat gland" ], "alt_id": [], "def": "Absence of the sweat glands.", "synonym": [ [ "absent sweat glands", "absent sweat gland" ], [ "lack of sweat glands", "lack of sweat gland" ] ], "xref": [ "UMLS:C2677485" ], "is_a": [ "HP:0011135" ], "is_obsolete": "", "replace_id": "" }, "HP:0011137": { "name": [ "non - pruritic urticaria", "non - pruritic urticaria" ], "alt_id": [], "def": "Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus.", "synonym": [ [ "non - itchy hives", "non - itchy hive" ] ], "xref": [ "UMLS:C4023519" ], "is_a": [ "HP:0011276" ], "is_obsolete": "", "replace_id": "" }, "HP:0011138": { "name": [ "abnormality of skin adnexa morphology", "abnormality of skin adnexa morphology" ], "alt_id": [], "def": "An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.", "synonym": [ [ "abnormal skin appendage", "abnormal skin appendage" ] ], "xref": [ "UMLS:C4023518" ], "is_a": [ "HP:0001574" ], "is_obsolete": "", "replace_id": "" }, "HP:0011139": { "name": [ "gastric duplication", "gastric duplication" ], "alt_id": [], "def": "Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach.", "synonym": [ [ "gastric duplication cyst", "gastric duplication cyst" ] ], "xref": [ "UMLS:C4021201" ], "is_a": [ "HP:0002577", "HP:0011140" ], "is_obsolete": "", "replace_id": "" }, "HP:0011140": { "name": [ "gastrointestinal duplication", "gastrointestinal duplication" ], "alt_id": [], "def": "A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.", "synonym": [ [ "gi duplication", "gi duplication" ] ], "xref": [ "SNOMEDCT_US:33257003", "UMLS:C0266019" ], "is_a": [ "HP:0012718" ], "is_obsolete": "", "replace_id": "" }, "HP:0011141": { "name": [ "age - related cataract", "age - relate cataract" ], "alt_id": [], "def": "A type of cataract (opacification of the lens) that forms during the course of aging.", "synonym": [ [ "clouding of the lens of the eye with age", "clouding of the lens of the eye with age" ] ], "xref": [ "SNOMEDCT_US:39450006", "UMLS:C0036646" ], "is_a": [ "HP:0000518" ], "is_obsolete": "", "replace_id": "" }, "HP:0011142": { "name": [ "age - related nuclear cataract", "age - related nuclear cataract" ], "alt_id": [], "def": "A type of age-related cataract that primarily affects the nucleus of the lens.", "synonym": [], "xref": [ "MSH:C563333", "UMLS:C1832423" ], "is_a": [ "HP:0011141" ], "is_obsolete": "", "replace_id": "" }, "HP:0011143": { "name": [ "age - related cortical cataract", "age - related cortical cataract" ], "alt_id": [], "def": "A type of age-related cataract that primarily affects the cortex of the lens.", "synonym": [], "xref": [ "UMLS:C2880562" ], "is_a": [ "HP:0011141" ], "is_obsolete": "", "replace_id": "" }, "HP:0011144": { "name": [ "age - related posterior subcapsular cataract", "age - related posterior subcapsular cataract" ], "alt_id": [], "def": "A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule.", "synonym": [], "xref": [ "UMLS:C4023517" ], "is_a": [ "HP:0011141" ], "is_obsolete": "", "replace_id": "" }, "HP:0011145": { "name": [ "symptomatic seizures", "symptomatic seizure" ], "alt_id": [], "def": "A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.", "synonym": [], "xref": [ "UMLS:C4023516" ], "is_a": [ "HP:0001250" ], "is_obsolete": "", "replace_id": "" }, "HP:0011146": { "name": [ "dialeptic seizure", "dialeptic seizure" ], "alt_id": [], "def": "A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.", "synonym": [ [ "behavioral arrest seizure with impairment of awareness irrespective of onset", "behavioral arrest seizure with impairment of awareness irrespective of onset" ], [ "behavioural arrest seizure with impairment of awareness irrespective of onset", "behavioural arrest seizure with impairment of awareness irrespective of onset" ], [ "unknown onset behavioral arrest seizure with impairment of awareness", "unknown onset behavioral arrest seizure with impairment of awareness" ], [ "unknown onset behavioural arrest seizure with impairment of awareness", "unknown onset behavioural arrest seizure with impairment of awareness" ] ], "xref": [], "is_a": [ "HP:0001250" ], "is_obsolete": "", "replace_id": "" }, "HP:0011147": { "name": [ "typical absence seizure", "typical absence seizure" ], "alt_id": [], "def": "A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.", "synonym": [ [ "typical absence", "typical absence" ], [ "typical absence seizures", "typical absence seizure" ] ], "xref": [ "MSH:D004832", "SNOMEDCT_US:230413002", "SNOMEDCT_US:432241000124101", "SNOMEDCT_US:50866000", "SNOMEDCT_US:79631006", "UMLS:C0014553" ], "is_a": [ "HP:0002121" ], "is_obsolete": "", "replace_id": "" }, "HP:0011148": { "name": [ "obsolete absence seizures with special features", "obsolete absence seizure with special feature" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0002121" }, "HP:0011149": { "name": [ "absence seizure with eyelid myoclonia", "absence seizure with eyelid myoclonia" ], "alt_id": [], "def": "An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure.", "synonym": [ [ "absence seizures with eyelid myoclonia", "absence seizure with eyelid myoclonia" ] ], "xref": [ "UMLS:C4023513" ], "is_a": [ "HP:0002121", "HP:0032678" ], "is_obsolete": "", "replace_id": "" }, "HP:0011150": { "name": [ "myoclonic absence seizure", "myoclonic absence seizure" ], "alt_id": [], "def": "Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.", "synonym": [ [ "myoclonic absence", "myoclonic absence" ], [ "myoclonic absences", "myoclonic absence" ] ], "xref": [ "UMLS:C4023512" ], "is_a": [ "HP:0002121" ], "is_obsolete": "", "replace_id": "" }, "HP:0011151": { "name": [ "atypical absence status epilepticus", "atypical absence status epilepticus" ], "alt_id": [], "def": "Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.", "synonym": [ [ "obtundation status", "obtundation status" ] ], "xref": [ "UMLS:C4023511" ], "is_a": [ "HP:0032860" ], "is_obsolete": "", "replace_id": "" }, "HP:0011152": { "name": [ "early onset absence seizures", "early onset absence seizure" ], "alt_id": [], "def": "Typical absence seizures starting before the age of 4 years.", "synonym": [ [ "early onset petit mal seizures", "early onset petit mal seizure" ] ], "xref": [ "UMLS:C4023510" ], "is_a": [ "HP:0011147" ], "is_obsolete": "", "replace_id": "" }, "HP:0011153": { "name": [ "focal motor seizure", "focal motor seizure" ], "alt_id": [], "def": "A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.", "synonym": [ [ "focal motor seizures", "focal motor seizure" ], [ "localised motor seizure", "localise motor seizure" ], [ "localised motor seizures", "localise motor seizure" ], [ "localized motor seizure", "localize motor seizure" ], [ "localized motor seizures", "localize motor seizure" ], [ "partial motor seizure", "partial motor seizure" ], [ "partial motor seizures", "partial motor seizure" ], [ "segmental motor seizure", "segmental motor seizure" ] ], "xref": [ "MSH:D020938", "SNOMEDCT_US:128612007", "SNOMEDCT_US:82401000", "UMLS:C0016399" ], "is_a": [ "HP:0007359", "HP:0020219" ], "is_obsolete": "", "replace_id": "" }, "HP:0011154": { "name": [ "focal autonomic seizure", "focal autonomic seizure" ], "alt_id": [ "HP:0011164" ], "def": "An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.", "synonym": [ [ "focal autonomic seizures", "focal autonomic seizure" ] ], "xref": [ "UMLS:C4023509" ], "is_a": [ "HP:0032679" ], "is_obsolete": "", "replace_id": "" }, "HP:0011155": { "name": [ "obsolete focal autonomic seizures with altered responsiveness", "obsolete focal autonomic seizure with altered responsiveness" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0032755" }, "HP:0011156": { "name": [ "obsolete focal autonomic seizures without altered responsiveness", "obsolete focal autonomic seizure without altered responsiveness" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0032740" }, "HP:0011157": { "name": [ "focal sensory seizure", "focal sensory seizure" ], "alt_id": [], "def": "A focal sensory seizure is a type seizure beginning with a subjective sensation.", "synonym": [ [ "focal sensory seizures", "focal sensory seizure" ], [ "partial sensory seizure", "partial sensory seizure" ], [ "sensory aura", "sensory aura" ] ], "xref": [ "MSH:D004827", "SNOMEDCT_US:18618006", "UMLS:C0236018" ], "is_a": [ "HP:0033348" ], "is_obsolete": "", "replace_id": "" }, "HP:0011158": { "name": [ "focal sensory seizure with auditory features", "focal sensory seizure with auditory feature" ], "alt_id": [], "def": "A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation.", "synonym": [ [ "auditory aura", "auditory aura" ], [ "focal auditory seizure", "focal auditory seizure" ], [ "focal sensory auditory seizure", "focal sensory auditory seizure" ], [ "partial auditory seizure", "partial auditory seizure" ] ], "xref": [ "UMLS:C1838063" ], "is_a": [ "HP:0011157" ], "is_obsolete": "", "replace_id": "" }, "HP:0011159": { "name": [ "focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena", "focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomenon" ], "alt_id": [], "def": "A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.", "synonym": [ [ "abdominal aura", "abdominal aura" ], [ "epigastric aura", "epigastric aura" ], [ "epigastric auras", "epigastric aura" ], [ "localised seizure with epigastric sensation", "localised seizure with epigastric sensation" ], [ "localized seizure with epigastric sensation", "localized seizure with epigastric sensation" ], [ "partial seizure with epigastric sensation", "partial seizure with epigastric sensation" ], [ "visceral aura", "visceral aura" ] ], "xref": [ "UMLS:C4023506" ], "is_a": [ "HP:0011154" ], "is_obsolete": "", "replace_id": "" }, "HP:0011160": { "name": [ "focal sensory seizure with gustatory features", "focal sensory seizure with gustatory feature" ], "alt_id": [], "def": "A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.", "synonym": [ [ "focal gustatory seizure", "focal gustatory seizure" ], [ "focal sensory gustatory seizure", "focal sensory gustatory seizure" ], [ "gustatory aura", "gustatory aura" ], [ "gustatory auras", "gustatory aura" ], [ "partial gustatory seizure", "partial gustatory seizure" ], [ "taste hallucinations", "taste hallucination" ] ], "xref": [ "MSH:D006212", "SNOMEDCT_US:29139005", "UMLS:C0233766" ], "is_a": [ "HP:0011157" ], "is_obsolete": "", "replace_id": "" }, "HP:0011161": { "name": [ "focal sensory seizure with olfactory features", "focal sensory seizure with olfactory feature" ], "alt_id": [], "def": "Seizures characterized by olfactory phenomena as its first clinical manifestation.", "synonym": [ [ "focal olfactory seizure", "focal olfactory seizure" ], [ "olfactory aura", "olfactory aura" ], [ "olfactory auras", "olfactory aura" ], [ "partial olfactory seizure", "partial olfactory seizure" ] ], "xref": [ "UMLS:C4023504" ], "is_a": [ "HP:0011157", "HP:0033693" ], "is_obsolete": "", "replace_id": "" }, "HP:0011162": { "name": [ "obsolete psychic auras", "obsolete psychic aura" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0032680" }, "HP:0011163": { "name": [ "focal sensory seizure with somatosensory features", "focal sensory seizure with somatosensory feature" ], "alt_id": [], "def": "A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation.", "synonym": [ [ "focal somatosensory seizure", "focal somatosensory seizure" ], [ "partial somatosensory seizure", "partial somatosensory seizure" ], [ "somatosensory aura", "somatosensory aura" ], [ "somatosensory auras", "somatosensory aura" ] ], "xref": [ "UMLS:C4023502" ], "is_a": [ "HP:0011157" ], "is_obsolete": "", "replace_id": "" }, "HP:0011164": { "name": [ "obsolete vegetative auras", "obsolete vegetative aura" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0011154" }, "HP:0011165": { "name": [ "focal sensory seizure with visual features", "focal sensory seizure with visual feature" ], "alt_id": [ "HP:0007175", "HP:0025121" ], "def": "A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.", "synonym": [ [ "focal visual seizure", "focal visual seizure" ], [ "partial visual seizure", "partial visual seizure" ], [ "simple partial occipital seizures", "simple partial occipital seizure" ], [ "visual aura", "visual aura" ], [ "visual auras", "visual aura" ] ], "xref": [ "UMLS:C1850765" ], "is_a": [ "HP:0011157" ], "is_obsolete": "", "replace_id": "" }, "HP:0011166": { "name": [ "focal myoclonic seizure", "focal myoclonic seizure" ], "alt_id": [ "HP:0025191" ], "def": "A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.", "synonym": [ [ "focal myoclonic seizures", "focal myoclonic seizure" ], [ "local myoclonic seizures", "local myoclonic seizure" ], [ "localised myoclonic seizure", "localise myoclonic seizure" ], [ "localized myoclonic seizure", "localize myoclonic seizure" ], [ "partial myoclonic seizure", "partial myoclonic seizure" ], [ "partial myoclonic seizures", "partial myoclonic seizure" ], [ "segmental myoclonic seizure", "segmental myoclonic seizure" ], [ "segmental myoclonic seizures", "segmental myoclonic seizure" ] ], "xref": [ "UMLS:C4023501" ], "is_a": [ "HP:0011153", "HP:0032794" ], "is_obsolete": "", "replace_id": "" }, "HP:0011167": { "name": [ "focal tonic seizure", "focal tonic seizure" ], "alt_id": [], "def": "A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.", "synonym": [ [ "focal tonic seizures", "focal tonic seizure" ], [ "local tonic seizures", "local tonic seizure" ], [ "localised tonic seizure", "localise tonic seizure" ], [ "localized tonic seizure", "localize tonic seizure" ], [ "partial tonic seizure", "partial tonic seizure" ], [ "partial tonic seizures", "partial tonic seizure" ], [ "segmental tonic seizure", "segmental tonic seizure" ] ], "xref": [ "MSH:D020938", "UMLS:C0752324" ], "is_a": [ "HP:0011153", "HP:0032792" ], "is_obsolete": "", "replace_id": "" }, "HP:0011168": { "name": [ "focal seizure with eyelid myoclonia", "focal seizure with eyelid myoclonia" ], "alt_id": [], "def": "Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.", "synonym": [ [ "eyelid myoclonias", "eyelid myoclonias" ] ], "xref": [ "UMLS:C4023500" ], "is_a": [ "HP:0011166" ], "is_obsolete": "", "replace_id": "" }, "HP:0011169": { "name": [ "generalized clonic seizure", "generalize clonic seizure" ], "alt_id": [], "def": "Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.", "synonym": [ [ "generalised clonic seizure", "generalise clonic seizure" ], [ "generalised clonic seizures", "generalise clonic seizure" ], [ "generalised onset clonic seizure", "generalise onset clonic seizure" ], [ "generalised - onset clonic seizure", "generalise - onset clonic seizure" ], [ "generalized clonic seizures", "generalize clonic seizure" ], [ "generalized onset clonic seizure", "generalize onset clonic seizure" ], [ "generalized - onset clonic seizure", "generalize - onset clonic seizure" ] ], "xref": [ "UMLS:C4023499" ], "is_a": [ "HP:0020221", "HP:0032677" ], "is_obsolete": "", "replace_id": "" }, "HP:0011170": { "name": [ "generalized myoclonic - atonic seizure", "generalize myoclonic - atonic seizure" ], "alt_id": [], "def": "A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component.", "synonym": [ [ "generalised myoclonic - atonic seizure", "generalise myoclonic - atonic seizure" ], [ "myoclonic atonic seizures", "myoclonic atonic seizure" ], [ "myoclonic - astatic seizure", "myoclonic - astatic seizure" ] ], "xref": [ "MSH:D004831", "SNOMEDCT_US:230421008", "UMLS:C0393702" ], "is_a": [ "HP:0032677" ], "is_obsolete": "", "replace_id": "" }, "HP:0011171": { "name": [ "simple febrile seizure", "simple febrile seizure" ], "alt_id": [], "def": "A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.", "synonym": [ [ "simple febrile convulsion", "simple febrile convulsion" ], [ "simple febrile seizures", "simple febrile seizure" ], [ "simple fever fit", "simple fever fit" ] ], "xref": [ "MSH:D003294", "SNOMEDCT_US:432354000", "UMLS:C0149886" ], "is_a": [ "HP:0002373" ], "is_obsolete": "", "replace_id": "" }, "HP:0011172": { "name": [ "complex febrile seizure", "complex febrile seizure" ], "alt_id": [], "def": "A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.", "synonym": [ [ "complex febrile convulsion", "complex febrile convulsion" ], [ "complex febrile seizures", "complex febrile seizure" ], [ "complex fever fit", "complex fever fit" ] ], "xref": [ "MSH:D003294", "SNOMEDCT_US:433083002", "UMLS:C0751057" ], "is_a": [ "HP:0002373" ], "is_obsolete": "", "replace_id": "" }, "HP:0011173": { "name": [ "focal behavior arrest seizure", "focal behavior arrest seizure" ], "alt_id": [], "def": "A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure.", "synonym": [ [ "focal behaviour arrest seizure", "focal behaviour arrest seizure" ], [ "focal hypokinetic seizure", "focal hypokinetic seizure" ], [ "hypokinetic seizure", "hypokinetic seizure" ], [ "hypokinetic seizures", "hypokinetic seizure" ], [ "localised seizure with behavioural arrest", "localised seizure with behavioural arrest" ], [ "localized seizure with behavioral arrest", "localized seizure with behavioral arrest" ], [ "partial hypokinetic seizure", "partial hypokinetic seizure" ], [ "partial seizure with behavior arrest", "partial seizure with behavior arrest" ], [ "partial seizure with behaviour arrest", "partial seizure with behaviour arrest" ] ], "xref": [ "UMLS:C4023498" ], "is_a": [ "HP:0032679" ], "is_obsolete": "", "replace_id": "" }, "HP:0011174": { "name": [ "focal hyperkinetic seizure", "focal hyperkinetic seizure" ], "alt_id": [], "def": "A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements.", "synonym": [ [ "hyperkinetic seizures", "hyperkinetic seizure" ], [ "localised hyperkinetic seizure", "localise hyperkinetic seizure" ], [ "localized hyperkinetic seizure", "localize hyperkinetic seizure" ], [ "partial hyperkinetic seizure", "partial hyperkinetic seizure" ], [ "segmental hyperkinetic seizure", "segmental hyperkinetic seizure" ] ], "xref": [ "UMLS:C4023497" ], "is_a": [ "HP:0011153" ], "is_obsolete": "", "replace_id": "" }, "HP:0011175": { "name": [ "focal motor seizure with version", "focal motor seizure with version" ], "alt_id": [], "def": "A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.", "synonym": [ [ "versive seizure", "versive seizure" ], [ "versive seizures", "versive seizure" ] ], "xref": [ "MSH:D020938", "SNOMEDCT_US:246530009", "UMLS:C0422846" ], "is_a": [ "HP:0011153" ], "is_obsolete": "", "replace_id": "" }, "HP:0011176": { "name": [ "eeg with constitutional variants", "eeg with constitutional variant" ], "alt_id": [], "def": "An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic.", "synonym": [], "xref": [ "UMLS:C4023496" ], "is_a": [ "HP:0002353" ], "is_obsolete": "", "replace_id": "" }, "HP:0011177": { "name": [ "eeg with 4 - 5 / second background activity", "eeg with 4 - 5 / second background activity" ], "alt_id": [], "def": "EEG background activity at 4-5/second.", "synonym": [], "xref": [ "UMLS:C4023495" ], "is_a": [ "HP:0011176" ], "is_obsolete": "", "replace_id": "" }, "HP:0011178": { "name": [ "alpha - eeg", "alpha - eeg" ], "alt_id": [], "def": "EEG dominated by diffuse alpha-waves (8-13Hz).", "synonym": [], "xref": [ "UMLS:C4023494" ], "is_a": [ "HP:0011176" ], "is_obsolete": "", "replace_id": "" }, "HP:0011179": { "name": [ "beta - eeg", "beta - eeg" ], "alt_id": [], "def": "EEG dominated by diffuse beta-waves (>13 Hz).", "synonym": [ [ "beta wave electroencephalography", "beta wave electroencephalography" ] ], "xref": [ "UMLS:C4023493" ], "is_a": [ "HP:0011176", "HP:0011202" ], "is_obsolete": "", "replace_id": "" }, "HP:0011180": { "name": [ "partial beta - eeg", "partial beta - eeg" ], "alt_id": [], "def": "EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz).", "synonym": [], "xref": [ "UMLS:C4023492" ], "is_a": [ "HP:0011179" ], "is_obsolete": "", "replace_id": "" }, "HP:0011181": { "name": [ "low voltage eeg", "low voltage eeg" ], "alt_id": [], "def": "EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz).", "synonym": [], "xref": [ "UMLS:C1851759" ], "is_a": [ "HP:0011176" ], "is_obsolete": "", "replace_id": "" }, "HP:0011182": { "name": [ "interictal epileptiform activity", "interictal epileptiform activity" ], "alt_id": [], "def": "Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.", "synonym": [ [ "epileptiform eeg discharges", "epileptiform eeg discharge" ] ], "xref": [ "UMLS:C4023491" ], "is_a": [ "HP:0025373" ], "is_obsolete": "", "replace_id": "" }, "HP:0011183": { "name": [ "eeg with hyperventilation - induced focal epileptiform discharges", "eeg with hyperventilation - induced focal epileptiform discharge" ], "alt_id": [], "def": "Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).", "synonym": [], "xref": [ "UMLS:C4023490" ], "is_a": [ "HP:0010858" ], "is_obsolete": "", "replace_id": "" }, "HP:0011184": { "name": [ "eeg with hyperventilation - induced generalized epileptiform discharges", "eeg with hyperventilation - induced generalized epileptiform discharge" ], "alt_id": [], "def": "Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).", "synonym": [ [ "eeg with hyperventilation - induced generalised epileptiform discharges", "eeg with hyperventilation - induce generalised epileptiform discharge" ] ], "xref": [ "UMLS:C4023489" ], "is_a": [ "HP:0010858" ], "is_obsolete": "", "replace_id": "" }, "HP:0011185": { "name": [ "eeg with focal epileptiform discharges", "eeg with focal epileptiform discharge" ], "alt_id": [ "HP:0010840" ], "def": "EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).", "synonym": [ [ "focal eeg abnormality", "focal eeg abnormality" ] ], "xref": [ "UMLS:C4021199" ], "is_a": [ "HP:0011182" ], "is_obsolete": "", "replace_id": "" }, "HP:0011186": { "name": [ "focal epileptiform discharges with limited propagation to contralateral hemisphere", "focal epileptiform discharge with limited propagation to contralateral hemisphere" ], "alt_id": [], "def": "Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.", "synonym": [], "xref": [ "UMLS:C4023488" ], "is_a": [ "HP:0011185" ], "is_obsolete": "", "replace_id": "" }, "HP:0011187": { "name": [ "focal eeg discharges with propagation to ipsilateral hemisphere", "focal eeg discharge with propagation to ipsilateral hemisphere" ], "alt_id": [], "def": "Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain.", "synonym": [], "xref": [ "UMLS:C4023487" ], "is_a": [ "HP:0011185" ], "is_obsolete": "", "replace_id": "" }, "HP:0011188": { "name": [ "focal eeg discharges with secondary generalization", "focal eeg discharge with secondary generalization" ], "alt_id": [], "def": "Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.", "synonym": [ [ "focal eeg discharges with secondary generalisation", "focal eeg discharge with secondary generalisation" ] ], "xref": [ "UMLS:C4023486" ], "is_a": [ "HP:0011185" ], "is_obsolete": "", "replace_id": "" }, "HP:0011189": { "name": [ "bilateral multifocal epileptiform discharges", "bilateral multifocal epileptiform discharge" ], "alt_id": [], "def": "Epileptiform discharges being identified at multiple locations in both hemispheres.", "synonym": [], "xref": [ "UMLS:C4023485" ], "is_a": [ "HP:0010841" ], "is_obsolete": "", "replace_id": "" }, "HP:0011190": { "name": [ "uni - and bilateral multifocal epileptiform discharges", "uni - and bilateral multifocal epileptiform discharge" ], "alt_id": [], "def": "Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.", "synonym": [], "xref": [ "UMLS:C4023484" ], "is_a": [ "HP:0010841" ], "is_obsolete": "", "replace_id": "" }, "HP:0011191": { "name": [ "unilateral multifocal epileptiform discharges", "unilateral multifocal epileptiform discharge" ], "alt_id": [], "def": "Epileptiform discharges being identified at multiple locations in one hemisphere.", "synonym": [], "xref": [ "UMLS:C4023483" ], "is_a": [ "HP:0010841" ], "is_obsolete": "", "replace_id": "" }, "HP:0011192": { "name": [ "polymorphic focal epileptiform discharges", "polymorphic focal epileptiform discharge" ], "alt_id": [], "def": "Focal epileptiform discharges of different shapes and frequencies.", "synonym": [], "xref": [ "UMLS:C4023482" ], "is_a": [ "HP:0011185" ], "is_obsolete": "", "replace_id": "" }, "HP:0011193": { "name": [ "eeg with focal spikes", "eeg with focal spike" ], "alt_id": [], "def": "EEG with focal sharp transient waves of a duration less than 80 msec.", "synonym": [], "xref": [ "UMLS:C4023481" ], "is_a": [ "HP:0011185" ], "is_obsolete": "", "replace_id": "" }, "HP:0011194": { "name": [ "eeg with series of focal spikes", "eeg with series of focal spike" ], "alt_id": [], "def": "Focal spikes occurring for several seconds.", "synonym": [], "xref": [ "UMLS:C4023480" ], "is_a": [ "HP:0011193" ], "is_obsolete": "", "replace_id": "" }, "HP:0011195": { "name": [ "eeg with focal sharp slow waves", "eeg with focal sharp slow wave" ], "alt_id": [], "def": "EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.", "synonym": [], "xref": [ "UMLS:C4023479" ], "is_a": [ "HP:0011185" ], "is_obsolete": "", "replace_id": "" }, "HP:0011196": { "name": [ "eeg with focal sharp waves", "eeg with focal sharp wave" ], "alt_id": [], "def": "EEG with focal sharp transient waves of a duration between 80 and 200 msec.", "synonym": [], "xref": [ "UMLS:C4023478" ], "is_a": [ "HP:0011185" ], "is_obsolete": "", "replace_id": "" }, "HP:0011197": { "name": [ "eeg with focal spike waves", "eeg with focal spike wave" ], "alt_id": [], "def": "EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave.", "synonym": [], "xref": [ "UMLS:C4023477" ], "is_a": [ "HP:0011185" ], "is_obsolete": "", "replace_id": "" }, "HP:0011198": { "name": [ "eeg with generalized epileptiform discharges", "eeg with generalized epileptiform discharge" ], "alt_id": [ "HP:0010842" ], "def": "EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.", "synonym": [ [ "eeg with generalised epileptiform discharges", "eeg with generalised epileptiform discharge" ] ], "xref": [ "UMLS:C4023476" ], "is_a": [ "HP:0011182" ], "is_obsolete": "", "replace_id": "" }, "HP:0011199": { "name": [ "eeg with generalized sharp slow waves", "eeg with generalized sharp slow wave" ], "alt_id": [], "def": "EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.", "synonym": [ [ "eeg with generalised sharp slow waves", "eeg with generalised sharp slow wave" ] ], "xref": [ "UMLS:C4023475" ], "is_a": [ "HP:0011198" ], "is_obsolete": "", "replace_id": "" }, "HP:0011200": { "name": [ "eeg with generalized polymorphic epileptiform discharges", "eeg with generalized polymorphic epileptiform discharge" ], "alt_id": [], "def": "Generalized epileptiform discharges of different shapes and frequencies.", "synonym": [ [ "eeg with generalised polymorphic epileptiform discharges", "eeg with generalised polymorphic epileptiform discharge" ] ], "xref": [ "UMLS:C4023474" ], "is_a": [ "HP:0011198" ], "is_obsolete": "", "replace_id": "" }, "HP:0011201": { "name": [ "eeg with changes in voltage", "eeg with change in voltage" ], "alt_id": [], "def": "EEG with abnormal amplitude.", "synonym": [], "xref": [ "UMLS:C4023473" ], "is_a": [ "HP:0002353" ], "is_obsolete": "", "replace_id": "" }, "HP:0011202": { "name": [ "eeg with diffuse acceleration", "eeg with diffuse acceleration" ], "alt_id": [], "def": "EEG frequency is abnormally increased.", "synonym": [], "xref": [ "UMLS:C4023472" ], "is_a": [ "HP:0002353" ], "is_obsolete": "", "replace_id": "" }, "HP:0011203": { "name": [ "eeg with abnormally slow frequencies", "eeg with abnormally slow frequency" ], "alt_id": [], "def": "EEG with abnormally slow frequencies.", "synonym": [], "xref": [ "UMLS:C4023471" ], "is_a": [ "HP:0002353" ], "is_obsolete": "", "replace_id": "" }, "HP:0011204": { "name": [ "eeg with continuous slow activity", "eeg with continuous slow activity" ], "alt_id": [], "def": "EEG showing diffuse slowing without interruption.", "synonym": [], "xref": [ "UMLS:C4023470" ], "is_a": [ "HP:0010845" ], "is_obsolete": "", "replace_id": "" }, "HP:0011205": { "name": [ "eeg with intermittent slow activity", "eeg with intermittent slow activity" ], "alt_id": [], "def": "Non-continuous diffuse slowing of electroencephalographic patterns.", "synonym": [], "xref": [ "UMLS:C4023469" ], "is_a": [ "HP:0010845" ], "is_obsolete": "", "replace_id": "" }, "HP:0011206": { "name": [ "eeg with generalized slow activity grade 1", "eeg with generalized slow activity grade 1" ], "alt_id": [], "def": "Slowing at frequencies between 7.5 and 8.5 Hz.", "synonym": [ [ "eeg with generalised slow activity grade 1", "eeg with generalised slow activity grade 1" ] ], "xref": [ "UMLS:C4023468" ], "is_a": [ "HP:0010845" ], "is_obsolete": "", "replace_id": "" }, "HP:0011207": { "name": [ "eeg with generalized slow activity grade 2", "eeg with generalized slow activity grade 2" ], "alt_id": [], "def": "Generalized slowing of EEG activity at frequencies between 4-7 Hz.", "synonym": [ [ "eeg with generalised slow activity grade 2", "eeg with generalised slow activity grade 2" ] ], "xref": [ "UMLS:C4023467" ], "is_a": [ "HP:0010845" ], "is_obsolete": "", "replace_id": "" }, "HP:0011208": { "name": [ "eeg with generalized slow activity grade 3", "eeg with generalized slow activity grade 3" ], "alt_id": [], "def": "Generalized slowing of EEG activity at frequencies between 0.5-3 Hz.", "synonym": [ [ "eeg with generalised slow activity grade 3", "eeg with generalised slow activity grade 3" ] ], "xref": [ "UMLS:C4023466" ], "is_a": [ "HP:0010845" ], "is_obsolete": "", "replace_id": "" }, "HP:0011209": { "name": [ "eeg with generalized slow activity grade 4", "eeg with generalized slow activity grade 4" ], "alt_id": [], "def": "EEG without electrical activity.", "synonym": [ [ "eeg with generalised slow activity grade 4", "eeg with generalised slow activity grade 4" ], [ "flat line eeg", "flat line eeg" ] ], "xref": [ "UMLS:C4021198" ], "is_a": [ "HP:0010845" ], "is_obsolete": "", "replace_id": "" }, "HP:0011210": { "name": [ "eeg with occipital slowing", "eeg with occipital slow" ], "alt_id": [], "def": "Slowing in occipital areas of the scalp EEG.", "synonym": [], "xref": [ "UMLS:C4023465" ], "is_a": [ "HP:0010843" ], "is_obsolete": "", "replace_id": "" }, "HP:0011211": { "name": [ "eeg with photoparoxysmal response grade i", "eeg with photoparoxysmal response grade i" ], "alt_id": [], "def": "Occurrence of epileptiform discharges in occipital regions during photic stimulation.", "synonym": [], "xref": [ "UMLS:C4023464" ], "is_a": [ "HP:0010852" ], "is_obsolete": "", "replace_id": "" }, "HP:0011212": { "name": [ "eeg with photoparoxysmal response grade ii", "eeg with photoparoxysmal response grade ii" ], "alt_id": [], "def": "Occurence of epileptiform discharges in occipital and central regions during photic stimulation.", "synonym": [], "xref": [ "UMLS:C4023463" ], "is_a": [ "HP:0010852" ], "is_obsolete": "", "replace_id": "" }, "HP:0011213": { "name": [ "eeg with photoparoxysmal response grade iii", "eeg with photoparoxysmal response grade iii" ], "alt_id": [], "def": "Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation.", "synonym": [], "xref": [ "UMLS:C4023462" ], "is_a": [ "HP:0010852" ], "is_obsolete": "", "replace_id": "" }, "HP:0011214": { "name": [ "eeg with photoparoxysmal response grade iv", "eeg with photoparoxysmal response grade iv" ], "alt_id": [], "def": "Occurrence of generalized epileptiform discharges during photic stimulation.", "synonym": [], "xref": [ "UMLS:C4023461" ], "is_a": [ "HP:0010852" ], "is_obsolete": "", "replace_id": "" }, "HP:0011215": { "name": [ "hemihypsarrhythmia", "hemihypsarrhythmia" ], "alt_id": [], "def": "Hypsarrhythmia occurring in one hemisphere.", "synonym": [], "xref": [ "UMLS:C4023460" ], "is_a": [ "HP:0011185" ], "is_obsolete": "", "replace_id": "" }, "HP:0011217": { "name": [ "abnormal shape of the occiput", "abnormal shape of the occiput" ], "alt_id": [], "def": "An abnormal shape of occiput.", "synonym": [ [ "abnormal shape of posterior cranium", "abnormal shape of posterior cranium" ], [ "abnormal shape of posterior head", "abnormal shape of posterior head" ], [ "abnormal shape of posterior skull", "abnormal shape of posterior skull" ], [ "abnormal shape of the back of the head", "abnormal shape of the back of the head" ], [ "abnormal shape of the back of the skull", "abnormal shape of the back of the skull" ] ], "xref": [ "UMLS:C4023459" ], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0011218": { "name": [ "abnormal shape of the frontal region", "abnormal shape of the frontal region" ], "alt_id": [], "def": "An abnormal shape of the frontal part of the head.", "synonym": [ [ "abnormal morphology of the frontal region", "abnormal morphology of the frontal region" ], [ "abnormal shape of the forehead", "abnormal shape of the forehead" ], [ "dysmorphic forehead", "dysmorphic forehead" ], [ "dysmorphic frontal region", "dysmorphic frontal region" ] ], "xref": [ "UMLS:C4023458" ], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0011219": { "name": [ "short face", "short face" ], "alt_id": [], "def": "Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective).", "synonym": [ [ "decreased height of face", "decreased height of face" ], [ "decreased length of face", "decreased length of face" ], [ "decreased vertical dimension of face", "decreased vertical dimension of face" ], [ "short face", "short face" ], [ "short facies", "short facies" ], [ "vertical deficiency of face", "vertical deficiency of face" ], [ "vertical facial deficiency", "vertical facial deficiency" ], [ "vertical facial insufficiency", "vertical facial insufficiency" ], [ "vertical hypoplasia of face", "vertical hypoplasia of face" ], [ "vertical insufficiency of face", "vertical insufficiency of face" ], [ "vertical shortening of face", "vertical shortening of face" ] ], "xref": [ "UMLS:C4023457" ], "is_a": [ "HP:0000274" ], "is_obsolete": "", "replace_id": "" }, "HP:0011220": { "name": [ "prominent forehead", "prominent forehead" ], "alt_id": [ "HP:0200061" ], "def": "Forward prominence of the entire forehead, due to protrusion of the frontal bone.", "synonym": [ [ "bulging forehead", "bulge forehead" ], [ "prominence of frontal region", "prominence of frontal region" ], [ "prominent forehead", "prominent forehead" ], [ "pronounced forehead", "pronounce forehead" ], [ "protruding forehead", "protrude forehead" ] ], "xref": [ "UMLS:C1837260", "UMLS:C1867446" ], "is_a": [ "HP:0000290" ], "is_obsolete": "", "replace_id": "" }, "HP:0011221": { "name": [ "vertical forehead creases", "vertical forehead crease" ], "alt_id": [], "def": "Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest.", "synonym": [ [ "frontal creases of face", "frontal crease of face" ], [ "vertical forehead creases", "vertical forehead crease" ], [ "vertical forehead rhytids", "vertical forehead rhytids" ], [ "vertical forehead wrinkles", "vertical forehead wrinkle" ] ], "xref": [ "UMLS:C4023456" ], "is_a": [ "HP:0000290" ], "is_obsolete": "", "replace_id": "" }, "HP:0011222": { "name": [ "depressed glabella", "depressed glabella" ], "alt_id": [], "def": "Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges.", "synonym": [ [ "concave glabella", "concave glabella" ], [ "deficiency of glabella", "deficiency of glabella" ], [ "deficient area between the eyebrows", "deficient area between the eyebrow" ], [ "flat area between the eyebrows", "flat area between the eyebrow" ], [ "flat glabella", "flat glabella" ], [ "hypoplasia of glabella", "hypoplasia of glabella" ] ], "xref": [ "UMLS:C4023455" ], "is_a": [ "HP:0002056" ], "is_obsolete": "", "replace_id": "" }, "HP:0011223": { "name": [ "metopic depression", "metopic depression" ], "alt_id": [], "def": "Linear vertical groove in the midline of the forehead, extending from hairline to glabella.", "synonym": [ [ "depression of frontal cranial suture", "depression of frontal cranial suture" ], [ "depression of metopic cranial suture", "depression of metopic cranial suture" ], [ "frontal suture depression", "frontal suture depression" ] ], "xref": [ "UMLS:C4023454" ], "is_a": [ "HP:0005556" ], "is_obsolete": "", "replace_id": "" }, "HP:0011224": { "name": [ "ablepharon", "ablepharon" ], "alt_id": [ "HP:0009925" ], "def": "Absent eyelids.", "synonym": [ [ "ablepharon of eyelid", "ablepharon of eyelid" ], [ "absent eyelids", "absent eyelid" ], [ "agenesis of eyelids", "agenesis of eyelid" ], [ "aplasia of the eyelids", "aplasia of the eyelid" ], [ "missing eyelids", "miss eyelid" ] ], "xref": [ "SNOMEDCT_US:13401001", "SNOMEDCT_US:708541009", "UMLS:C0266574", "UMLS:C4020757" ], "is_a": [ "HP:0011226" ], "is_obsolete": "", "replace_id": "" }, "HP:0011225": { "name": [ "epiblepharon", "epiblepharon" ], "alt_id": [], "def": "Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.", "synonym": [], "xref": [ "SNOMEDCT_US:253212001", "UMLS:C0344503" ], "is_a": [ "HP:0000492" ], "is_obsolete": "", "replace_id": "" }, "HP:0011226": { "name": [ "aplasia / hypoplasia of the eyelid", "aplasia / hypoplasia of the eyelid" ], "alt_id": [], "def": "Absence or underdevelopment of the eyelid.", "synonym": [ [ "failure of development of eyelid", "failure of development of eyelid" ], [ "hypotrophic eyelid", "hypotrophic eyelid" ] ], "xref": [ "UMLS:C4023453" ], "is_a": [ "HP:0000492" ], "is_obsolete": "", "replace_id": "" }, "HP:0011227": { "name": [ "elevated circulating c - reactive protein concentration", "elevate circulate c - reactive protein concentration" ], "alt_id": [], "def": "An abnormal elevation of the C-reactive protein level in the blood circulation.", "synonym": [ [ "elevated c - reactive protein level", "elevate c - reactive protein level" ], [ "elevated crp", "elevate crp" ] ], "xref": [ "UMLS:C0742906", "UMLS:C4023452" ], "is_a": [ "HP:0032436", "HP:0033331" ], "is_obsolete": "", "replace_id": "" }, "HP:0011228": { "name": [ "horizontal eyebrow", "horizontal eyebrow" ], "alt_id": [], "def": "An eyebrow that extends straight across the brow, without curve.", "synonym": [ [ "flat eyebrow", "flat eyebrow" ], [ "horizontal eyebrow", "horizontal eyebrow" ], [ "lack of eyebrow arch", "lack of eyebrow arch" ], [ "lack of eyebrow curvature", "lack of eyebrow curvature" ], [ "straight eyebrow", "straight eyebrow" ], [ "straight eyebrows", "straight eyebrow" ] ], "xref": [ "UMLS:C3277019" ], "is_a": [ "HP:0000534" ], "is_obsolete": "", "replace_id": "" }, "HP:0011229": { "name": [ "broad eyebrow", "broad eyebrow" ], "alt_id": [], "def": "Regional increase in the width (height) of the eyebrow.", "synonym": [ [ "broad eyebrow", "broad eyebrow" ], [ "broad eyebrows", "broad eyebrow" ], [ "flared eyebrow", "flare eyebrow" ], [ "flared eyebrows", "flare eyebrow" ], [ "increased vertical height of eyebrow", "increased vertical height of eyebrow" ], [ "increased vertical thickness of eyebrow", "increased vertical thickness of eyebrow" ], [ "increased vertical width of eyebrow", "increased vertical width of eyebrow" ] ], "xref": [ "UMLS:C1856121" ], "is_a": [ "HP:0000534" ], "is_obsolete": "", "replace_id": "" }, "HP:0011230": { "name": [ "laterally extended eyebrow", "laterally extend eyebrow" ], "alt_id": [], "def": "An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location.", "synonym": [ [ "increased lateral length of eyebrow", "increase lateral length of eyebrow" ], [ "laterally elongated eyebrow", "laterally elongate eyebrow" ], [ "laterally extended eyebrows", "laterally extend eyebrow" ] ], "xref": [ "UMLS:C4023451" ], "is_a": [ "HP:0000534" ], "is_obsolete": "", "replace_id": "" }, "HP:0011231": { "name": [ "prominent eyelashes", "prominent eyelash" ], "alt_id": [], "def": "Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly.", "synonym": [ [ "prominent eyelashes", "prominent eyelash" ], [ "thick eyelashes", "thick eyelash" ] ], "xref": [ "UMLS:C1835802", "UMLS:C4023450" ], "is_a": [ "HP:0000499" ], "is_obsolete": "", "replace_id": "" }, "HP:0011232": { "name": [ "infra - orbital fold", "infra - orbital fold" ], "alt_id": [], "def": "Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge.", "synonym": [ [ "dennie - morgan fold", "dennie - morgan fold" ], [ "infraorbital fold", "infraorbital fold" ] ], "xref": [ "UMLS:C4023449" ], "is_a": [ "HP:0000606" ], "is_obsolete": "", "replace_id": "" }, "HP:0011233": { "name": [ "antihelical shelf", "antihelical shelf" ], "alt_id": [], "def": "Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha.", "synonym": [ [ "conchal shelf", "conchal shelf" ] ], "xref": [ "UMLS:C4021197" ], "is_a": [ "HP:0009738" ], "is_obsolete": "", "replace_id": "" }, "HP:0011234": { "name": [ "absent antihelix", "absent antihelix" ], "alt_id": [], "def": "No discernible ridge between concha and triangular fossa and helix.", "synonym": [], "xref": [ "UMLS:C4023448" ], "is_a": [ "HP:0009738" ], "is_obsolete": "", "replace_id": "" }, "HP:0011235": { "name": [ "additional crus of antihelix", "additional crus of antihelix" ], "alt_id": [], "def": "Supernumerary ridge or crus of the ear arising from the antihelix.", "synonym": [], "xref": [ "UMLS:C4023447" ], "is_a": [ "HP:0009738" ], "is_obsolete": "", "replace_id": "" }, "HP:0011236": { "name": [ "angulated antihelix", "angulate antihelix" ], "alt_id": [], "def": "Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc.", "synonym": [], "xref": [ "UMLS:C4023446" ], "is_a": [ "HP:0009738" ], "is_obsolete": "", "replace_id": "" }, "HP:0011237": { "name": [ "broad inferior crus of antihelix", "broad inferior crus of antihelix" ], "alt_id": [], "def": "Increased width of the inferred cross-section of the inferior crus.", "synonym": [ [ "antihelix , inferior crus , broad", "antihelix , inferior crus , broad" ] ], "xref": [ "UMLS:C4021196" ], "is_a": [ "HP:0011243" ], "is_obsolete": "", "replace_id": "" }, "HP:0011238": { "name": [ "prominent inferior crus of antihelix", "prominent inferior crus of antihelix" ], "alt_id": [], "def": "Increased protrusion of the inferior crus relative to the prominence of the antihelix stem.", "synonym": [ [ "antihelix , inferior crus , prominent", "antihelix , inferior crus , prominent" ], [ "hyperplastic inferior crus of antihelix", "hyperplastic inferior crus of antihelix" ], [ "hypertrophic inferior crus of antihelix", "hypertrophic inferior crus of antihelix" ] ], "xref": [ "UMLS:C4021195" ], "is_a": [ "HP:0011243" ], "is_obsolete": "", "replace_id": "" }, "HP:0011239": { "name": [ "underdeveloped inferior crus of antihelix", "underdeveloped inferior crus of antihelix" ], "alt_id": [], "def": "Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem.", "synonym": [ [ "antihelix , inferior crus , underdeveloped", "antihelix , inferior crus , underdevelop" ], [ "hypoplastic inferior crus of antihelix", "hypoplastic inferior crus of antihelix" ], [ "hypotrophic inferior crus of antihelix", "hypotrophic inferior crus of antihelix" ] ], "xref": [ "UMLS:C4021194" ], "is_a": [ "HP:0011243" ], "is_obsolete": "", "replace_id": "" }, "HP:0011240": { "name": [ "prominent stem of antihelix", "prominent stem of antihelix" ], "alt_id": [], "def": "Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix.", "synonym": [ [ "hyperplastic antihelix stem", "hyperplastic antihelix stem" ], [ "hypertrophic antihelix stem", "hypertrophic antihelix stem" ] ], "xref": [ "UMLS:C4020910" ], "is_a": [ "HP:0011244" ], "is_obsolete": "", "replace_id": "" }, "HP:0011241": { "name": [ "serpiginous stem of antihelix", "serpiginous stem of antihelix" ], "alt_id": [], "def": "Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha.", "synonym": [ [ "antihelix , stem , serpiginous", "antihelix , stem , serpiginous" ] ], "xref": [ "UMLS:C4021193" ], "is_a": [ "HP:0011244" ], "is_obsolete": "", "replace_id": "" }, "HP:0011242": { "name": [ "underdeveloped stem of antihelix", "underdeveloped stem of antihelix" ], "alt_id": [], "def": "Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix.", "synonym": [ [ "antihelix , stem , underdeveloped", "antihelix , stem , underdevelop" ] ], "xref": [ "UMLS:C4021192" ], "is_a": [ "HP:0011244" ], "is_obsolete": "", "replace_id": "" }, "HP:0011243": { "name": [ "abnormality of inferior crus of antihelix", "abnormality of inferior crus of antihelix" ], "alt_id": [], "def": "An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.", "synonym": [ [ "abnormality of anterior crus of antihelix", "abnormality of anterior crus of antihelix" ] ], "xref": [ "UMLS:C4021191" ], "is_a": [ "HP:0009738" ], "is_obsolete": "", "replace_id": "" }, "HP:0011244": { "name": [ "abnormality of stem of antihelix", "abnormality of stem of antihelix" ], "alt_id": [], "def": "An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura.", "synonym": [], "xref": [ "UMLS:C4023445" ], "is_a": [ "HP:0009738" ], "is_obsolete": "", "replace_id": "" }, "HP:0011245": { "name": [ "abnormality of superior crus of antihelix", "abnormality of superior crus of antihelix" ], "alt_id": [], "def": "An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.", "synonym": [ [ "abnormality of posterior crus of antihelix", "abnormality of posterior crus of antihelix" ] ], "xref": [ "UMLS:C4021190" ], "is_a": [ "HP:0009738" ], "is_obsolete": "", "replace_id": "" }, "HP:0011246": { "name": [ "underdeveloped superior crus of antihelix", "underdeveloped superior crus of antihelix" ], "alt_id": [], "def": "Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem.", "synonym": [ [ "hypoplastic superior crus of antihelix", "hypoplastic superior crus of antihelix" ], [ "hypotrophic superior crus of antihelix", "hypotrophic superior crus of antihelix" ] ], "xref": [ "UMLS:C4021189" ], "is_a": [ "HP:0011245" ], "is_obsolete": "", "replace_id": "" }, "HP:0011247": { "name": [ "prominent superior crus of antihelix", "prominent superior crus of antihelix" ], "alt_id": [], "def": "Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem.", "synonym": [ [ "hyperplastic superior crus of antihelix", "hyperplastic superior crus of antihelix" ], [ "hypertrophic superior crus of antihelix", "hypertrophic superior crus of antihelix" ] ], "xref": [ "UMLS:C4021188" ], "is_a": [ "HP:0011245" ], "is_obsolete": "", "replace_id": "" }, "HP:0011248": { "name": [ "everted antitragus", "evert antitragus" ], "alt_id": [], "def": "Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear).", "synonym": [], "xref": [ "UMLS:C4023444" ], "is_a": [ "HP:0009896" ], "is_obsolete": "", "replace_id": "" }, "HP:0011249": { "name": [ "absent antitragus", "absent antitragus" ], "alt_id": [], "def": "Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.", "synonym": [], "xref": [ "UMLS:C4023443" ], "is_a": [ "HP:0009896" ], "is_obsolete": "", "replace_id": "" }, "HP:0011250": { "name": [ "bifid antitragus", "bifid antitragus" ], "alt_id": [], "def": "Double rather than single peak of the antitragus.", "synonym": [ [ "double antitragus", "double antitragus" ] ], "xref": [ "UMLS:C4021187" ], "is_a": [ "HP:0009896" ], "is_obsolete": "", "replace_id": "" }, "HP:0011251": { "name": [ "underdeveloped antitragus", "underdeveloped antitragus" ], "alt_id": [], "def": "Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.", "synonym": [ [ "hypoplastic antitragus", "hypoplastic antitragus" ], [ "hypotrophic antitragus", "hypotrophic antitragus" ], [ "small antitragus", "small antitragus" ] ], "xref": [ "UMLS:C4021186" ], "is_a": [ "HP:0009896" ], "is_obsolete": "", "replace_id": "" }, "HP:0011252": { "name": [ "cryptotia", "cryptotia" ], "alt_id": [], "def": "Invagination of the superior part of the auricle under a fold of temporal skin.", "synonym": [ [ "buried ear", "bury ear" ], [ "hidden ear", "hidden ear" ] ], "xref": [ "SNOMEDCT_US:429967001", "UMLS:C2315717" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0011253": { "name": [ "type i cryptotia", "type i cryptotia" ], "alt_id": [], "def": "A type of cryptotia associated with reduction in size of the antihelix and superior crus.", "synonym": [ [ "type 1 cryptotia", "type 1 cryptotia" ] ], "xref": [ "UMLS:C4023442" ], "is_a": [ "HP:0011252" ], "is_obsolete": "", "replace_id": "" }, "HP:0011254": { "name": [ "type ii cryptotia", "type ii cryptotia" ], "alt_id": [], "def": "A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected.", "synonym": [ [ "type 2 cryptotia", "type 2 cryptotia" ] ], "xref": [ "UMLS:C4023441" ], "is_a": [ "HP:0011252" ], "is_obsolete": "", "replace_id": "" }, "HP:0011255": { "name": [ "absent crus of helix", "absent crus of helix" ], "alt_id": [], "def": "Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha.", "synonym": [ [ "helix , crus , absent", "helix , crus , absent" ] ], "xref": [ "UMLS:C4021185" ], "is_a": [ "HP:0009895" ], "is_obsolete": "", "replace_id": "" }, "HP:0011256": { "name": [ "crus of helix connected to antihelix", "crus of helix connect to antihelix" ], "alt_id": [], "def": "Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix.", "synonym": [ [ "helix , crus , connected to antihelix", "helix , crus , connect to antihelix" ] ], "xref": [ "UMLS:C4021184" ], "is_a": [ "HP:0009895" ], "is_obsolete": "", "replace_id": "" }, "HP:0011257": { "name": [ "serpiginous crus of helix", "serpiginous crus of helix" ], "alt_id": [], "def": "Curving course of the crus of the helix, approaching or joining the antitragus.", "synonym": [ [ "helix , crus , serpiginous", "helix , crus , serpiginous" ] ], "xref": [ "UMLS:C4021183" ], "is_a": [ "HP:0009895" ], "is_obsolete": "", "replace_id": "" }, "HP:0011258": { "name": [ "tragal bridge of crus of helix", "tragal bridge of crus of helix" ], "alt_id": [], "def": "The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix.", "synonym": [ [ "helix , crus , tragal bridge", "helix , crus , tragal bridge" ] ], "xref": [ "UMLS:C4021182" ], "is_a": [ "HP:0009895" ], "is_obsolete": "", "replace_id": "" }, "HP:0011259": { "name": [ "expanded terminal portion of crus of helix", "expand terminal portion of crus of helix" ], "alt_id": [], "def": "Widening, rather than tapering, of the crus at its posterior border near the antihelix.", "synonym": [ [ "helix , crus , expanded terminal portion", "helix , crus , expand terminal portion" ] ], "xref": [ "UMLS:C4021181" ], "is_a": [ "HP:0009895" ], "is_obsolete": "", "replace_id": "" }, "HP:0011260": { "name": [ "darwin notch of helix", "darwin notch of helix" ], "alt_id": [], "def": "Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix.", "synonym": [ [ "helix , darwin notch", "helix , darwin notch" ] ], "xref": [ "UMLS:C4021180" ], "is_a": [ "HP:0009902" ], "is_obsolete": "", "replace_id": "" }, "HP:0011261": { "name": [ "darwin tubercle of helix", "darwin tubercle of helix" ], "alt_id": [], "def": "Small expansion of the helical fold at the junction of the superior and descending portions of the helix.", "synonym": [ [ "helix , darwin tubercle", "helix , darwin tubercle" ] ], "xref": [ "UMLS:C4021179" ], "is_a": [ "HP:0011039" ], "is_obsolete": "", "replace_id": "" }, "HP:0011262": { "name": [ "crimped helix", "crimped helix" ], "alt_id": [], "def": "Linear, circumferential indentation in the convexity of the outer surface of the helix.", "synonym": [ [ "helix , crimped", "helix , crimp" ], [ "indented helix", "indent helix" ] ], "xref": [ "UMLS:C4021178" ], "is_a": [ "HP:0011039" ], "is_obsolete": "", "replace_id": "" }, "HP:0011263": { "name": [ "forward facing earlobe", "forward face earlobe" ], "alt_id": [], "def": "Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear.", "synonym": [ [ "forward facing earlobe", "forward face earlobe" ], [ "lobe , forward facing", "lobe , forward face" ] ], "xref": [ "UMLS:C4021177" ], "is_a": [ "HP:0000363" ], "is_obsolete": "", "replace_id": "" }, "HP:0011264": { "name": [ "discontinuous ascending root of helix", "discontinuous ascend root of helix" ], "alt_id": [], "def": "Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid.", "synonym": [ [ "helix , discontinuous ascending root", "helix , discontinuous ascend root" ] ], "xref": [ "UMLS:C4021176" ], "is_a": [ "HP:0011039" ], "is_obsolete": "", "replace_id": "" }, "HP:0011265": { "name": [ "cleft earlobe", "cleft earlobe" ], "alt_id": [], "def": "Discontinuity in the convexity of the inferior margin of the lobe.", "synonym": [ [ "cleft earlobe", "cleft earlobe" ] ], "xref": [ "UMLS:C4023440" ], "is_a": [ "HP:0000363" ], "is_obsolete": "", "replace_id": "" }, "HP:0011266": { "name": [ "microtia , first degree", "microtia , first degree" ], "alt_id": [ "HP:0000379" ], "def": "Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.", "synonym": [ [ "first - degree microtia", "first - degree microtia" ] ], "xref": [ "UMLS:C4021175" ], "is_a": [ "HP:0008551" ], "is_obsolete": "", "replace_id": "" }, "HP:0011267": { "name": [ "microtia , third degree", "microtia , third degree" ], "alt_id": [], "def": "Presence of some auricular structures, but none of these structures conform to recognized ear components.", "synonym": [ [ "abnormal shape / structure of ear", "abnormal shape / structure of ear" ], [ "third - degree microtia", "third - degree microtia" ] ], "xref": [ "UMLS:C4021174", "UMLS:C4280331" ], "is_a": [ "HP:0008551" ], "is_obsolete": "", "replace_id": "" }, "HP:0011268": { "name": [ "absent tragus", "absent tragus" ], "alt_id": [], "def": "Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix.", "synonym": [], "xref": [ "UMLS:C4023439" ], "is_a": [ "HP:0009913" ], "is_obsolete": "", "replace_id": "" }, "HP:0011269": { "name": [ "bifid tragus", "bifid tragus" ], "alt_id": [], "def": "Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak.", "synonym": [ [ "notched tragus", "notch tragus" ], [ "tragus , bifid", "tragus , bifid" ] ], "xref": [ "UMLS:C4021173" ], "is_a": [ "HP:0009912" ], "is_obsolete": "", "replace_id": "" }, "HP:0011270": { "name": [ "duplicated tragus", "duplicate tragus" ], "alt_id": [], "def": "A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus.", "synonym": [ [ "accesory tragus", "accesory tragus" ], [ "tragus , duplicated", "tragus , duplicate" ] ], "xref": [ "UMLS:C4021172" ], "is_a": [ "HP:0009912" ], "is_obsolete": "", "replace_id": "" }, "HP:0011271": { "name": [ "prominent tragus", "prominent tragus" ], "alt_id": [], "def": "Increase posterolateral protrusion of the tragus.", "synonym": [ [ "enlarged tragus", "enlarge tragus" ], [ "hyperplastic tragus", "hyperplastic tragus" ], [ "hypertrophic tragus", "hypertrophic tragus" ], [ "large tragus", "large tragus" ], [ "tragus , prominent", "tragus , prominent" ] ], "xref": [ "UMLS:C4021171" ], "is_a": [ "HP:0009912" ], "is_obsolete": "", "replace_id": "" }, "HP:0011272": { "name": [ "underdeveloped tragus", "underdeveloped tragus" ], "alt_id": [], "def": "Decreased posterolateral protrusion of the tragus.", "synonym": [ [ "hypoplastic tragus", "hypoplastic tragus" ], [ "hypotrophic tragus", "hypotrophic tragus" ], [ "small tragus", "small tragus" ] ], "xref": [ "UMLS:C4013429" ], "is_a": [ "HP:0009913" ], "is_obsolete": "", "replace_id": "" }, "HP:0011273": { "name": [ "anisocytosis", "anisocytosis" ], "alt_id": [], "def": "Abnormally increased variability in the size of erythrocytes.", "synonym": [ [ "unequal size of red blood cells", "unequal size of red blood cell" ] ], "xref": [ "SNOMEDCT_US:165475005", "SNOMEDCT_US:57241006", "UMLS:C0221278" ], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0011274": { "name": [ "recurrent mycobacterial infections", "recurrent mycobacterial infection" ], "alt_id": [], "def": "Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.", "synonym": [], "xref": [ "UMLS:C4023438" ], "is_a": [ "HP:0002718" ], "is_obsolete": "", "replace_id": "" }, "HP:0011275": { "name": [ "recurrent mycobacterium avium complex infections", "recurrent mycobacterium avium complex infection" ], "alt_id": [], "def": "Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection.", "synonym": [], "xref": [ "UMLS:C1737260" ], "is_a": [ "HP:0011274" ], "is_obsolete": "", "replace_id": "" }, "HP:0011276": { "name": [ "vascular skin abnormality", "vascular skin abnormality" ], "alt_id": [], "def": "", "synonym": [ [ "skin vascular malformation", "skin vascular malformation" ], [ "vascular abnormalities restricted to skin", "vascular abnormality restrict to skin" ] ], "xref": [ "MSH:D017445", "SNOMEDCT_US:11263005", "UMLS:C0162819", "UMLS:C1842892" ], "is_a": [ "HP:0002597", "HP:0011354" ], "is_obsolete": "", "replace_id": "" }, "HP:0011277": { "name": [ "abnormality of the urinary system physiology", "abnormality of the urinary system physiology" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023437" ], "is_a": [ "HP:0000079" ], "is_obsolete": "", "replace_id": "" }, "HP:0011278": { "name": [ "intrapulmonary sequestration", "intrapulmonary sequestration" ], "alt_id": [], "def": "A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree.", "synonym": [], "xref": [ "UMLS:C4023436" ], "is_a": [ "HP:0100632" ], "is_obsolete": "", "replace_id": "" }, "HP:0011279": { "name": [ "abnormality of urine bicarbonate concentration", "abnormality of urine bicarbonate concentration" ], "alt_id": [], "def": "An abnormality of the concentration of hydrogencarbonate in the urine.", "synonym": [ [ "abnormality of urine hco3 concentration", "abnormality of urine hco3 concentration" ] ], "xref": [ "UMLS:C4023435" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0011280": { "name": [ "abnormality of urine calcium concentration", "abnormality of urine calcium concentration" ], "alt_id": [], "def": "An abnormality of calcium concentration in the urine.", "synonym": [ [ "abnormality of urine ca concentration", "abnormality of urine ca concentration" ], [ "abnormality of urine ca2+ concentration", "abnormality of urine ca2+ concentration" ] ], "xref": [ "UMLS:C4023434" ], "is_a": [ "HP:0012591" ], "is_obsolete": "", "replace_id": "" }, "HP:0011281": { "name": [ "abnormality of urine catecholamine concentration", "abnormality of urine catecholamine concentration" ], "alt_id": [], "def": "An abnormal level of urinary catecholamine concentration.", "synonym": [], "xref": [ "MP:0011478", "UMLS:C4023433" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0011282": { "name": [ "abnormality of hindbrain morphology", "abnormality of hindbrain morphology" ], "alt_id": [], "def": "An abnormality of the hindbrain, also known as the rhombencephalon.", "synonym": [ [ "abnormal shape of hindbrain", "abnormal shape of hindbrain" ], [ "abnormality of the hindbrain", "abnormality of the hindbrain" ] ], "xref": [ "UMLS:C4021170" ], "is_a": [ "HP:0012443" ], "is_obsolete": "", "replace_id": "" }, "HP:0011283": { "name": [ "abnormal metencephalon morphology", "abnormal metencephalon morphology" ], "alt_id": [], "def": "An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.", "synonym": [ [ "abnormality of the metencephalon", "abnormality of the metencephalon" ] ], "xref": [ "UMLS:C4023432" ], "is_a": [ "HP:0011282" ], "is_obsolete": "", "replace_id": "" }, "HP:0011284": { "name": [ "short - segment aganglionic megacolon", "short - segment aganglionic megacolon" ], "alt_id": [], "def": "A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.", "synonym": [], "xref": [ "UMLS:C4023431" ], "is_a": [ "HP:0002251" ], "is_obsolete": "", "replace_id": "" }, "HP:0011285": { "name": [ "long - segment aganglionic megacolon", "long - segment aganglionic megacolon" ], "alt_id": [], "def": "A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.", "synonym": [], "xref": [ "UMLS:C4023430" ], "is_a": [ "HP:0002251" ], "is_obsolete": "", "replace_id": "" }, "HP:0011286": { "name": [ "total colonic aganglionosis", "total colonic aganglionosis" ], "alt_id": [], "def": "A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.", "synonym": [], "xref": [ "MSH:D006627", "SNOMEDCT_US:253780003", "SNOMEDCT_US:360441005", "UMLS:C0085758" ], "is_a": [ "HP:0002251" ], "is_obsolete": "", "replace_id": "" }, "HP:0011287": { "name": [ "eeg with occipital sharp slow waves", "eeg with occipital sharp slow wave" ], "alt_id": [], "def": "EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.", "synonym": [], "xref": [ "UMLS:C4023429" ], "is_a": [ "HP:0011195", "HP:0033720" ], "is_obsolete": "", "replace_id": "" }, "HP:0011288": { "name": [ "eeg with parietal sharp slow waves", "eeg with parietal sharp slow wave" ], "alt_id": [], "def": "EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.", "synonym": [], "xref": [ "UMLS:C4023428" ], "is_a": [ "HP:0011195", "HP:0033719" ], "is_obsolete": "", "replace_id": "" }, "HP:0011289": { "name": [ "eeg with temporal sharp slow waves", "eeg with temporal sharp slow wave" ], "alt_id": [], "def": "EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.", "synonym": [], "xref": [ "UMLS:C4023427" ], "is_a": [ "HP:0011195", "HP:0033717" ], "is_obsolete": "", "replace_id": "" }, "HP:0011290": { "name": [ "eeg with frontal sharp slow waves", "eeg with frontal sharp slow wave" ], "alt_id": [], "def": "EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.", "synonym": [], "xref": [ "UMLS:C4023426" ], "is_a": [ "HP:0011195", "HP:0033716" ], "is_obsolete": "", "replace_id": "" }, "HP:0011291": { "name": [ "eeg with central sharp slow waves", "eeg with central sharp slow wave" ], "alt_id": [], "def": "EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.", "synonym": [], "xref": [ "UMLS:C4023425" ], "is_a": [ "HP:0011195", "HP:0033718" ], "is_obsolete": "", "replace_id": "" }, "HP:0011292": { "name": [ "eeg with occipital sharp waves", "eeg with occipital sharp wave" ], "alt_id": [], "def": "EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec.", "synonym": [], "xref": [ "UMLS:C2206521" ], "is_a": [ "HP:0011196", "HP:0033720" ], "is_obsolete": "", "replace_id": "" }, "HP:0011293": { "name": [ "eeg with central sharp waves", "eeg with central sharp wave" ], "alt_id": [], "def": "EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec.", "synonym": [], "xref": [ "UMLS:C2207327" ], "is_a": [ "HP:0011196", "HP:0033718" ], "is_obsolete": "", "replace_id": "" }, "HP:0011294": { "name": [ "eeg with frontal sharp waves", "eeg with frontal sharp wave" ], "alt_id": [], "def": "EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec.", "synonym": [], "xref": [ "UMLS:C2206518" ], "is_a": [ "HP:0011196", "HP:0033716" ], "is_obsolete": "", "replace_id": "" }, "HP:0011295": { "name": [ "eeg with parietal sharp waves", "eeg with parietal sharp wave" ], "alt_id": [], "def": "EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec.", "synonym": [], "xref": [ "UMLS:C2206520" ], "is_a": [ "HP:0011196", "HP:0033719" ], "is_obsolete": "", "replace_id": "" }, "HP:0011296": { "name": [ "eeg with temporal sharp waves", "eeg with temporal sharp wave" ], "alt_id": [], "def": "EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec.", "synonym": [], "xref": [ "UMLS:C2206519" ], "is_a": [ "HP:0011196", "HP:0033717" ], "is_obsolete": "", "replace_id": "" }, "HP:0011297": { "name": [ "abnormal digit morphology", "abnormal digit morphology" ], "alt_id": [], "def": "A morphological abnormality of a digit, i.e., of a finger or toe.", "synonym": [ [ "abnormality of digit", "abnormality of digit" ], [ "abnormality of fingers or toes", "abnormality of finger or toe" ], [ "digital anomalies", "digital anomaly" ] ], "xref": [ "UMLS:C3550704" ], "is_a": [ "HP:0002813" ], "is_obsolete": "", "replace_id": "" }, "HP:0011298": { "name": [ "prominent digit pad", "prominent digit pad" ], "alt_id": [], "def": "A soft tissue prominence of the ventral aspects of the fingertips or toe tips.", "synonym": [ [ "prominent digit pad", "prominent digit pad" ] ], "xref": [ "UMLS:C4023424" ], "is_a": [ "HP:0011356" ], "is_obsolete": "", "replace_id": "" }, "HP:0011299": { "name": [ "partial absence of finger", "partial absence of finger" ], "alt_id": [], "def": "The absence of a phalangeal segment of a finger.", "synonym": [ [ "partial absence of finger", "partial absence of finger" ] ], "xref": [ "UMLS:C4023423" ], "is_a": [ "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0011300": { "name": [ "broad fingertip", "broad fingertip" ], "alt_id": [], "def": "Increased width of the distal segment of a finger.", "synonym": [ [ "broad fingertip", "broad fingertip" ], [ "broad fingertips", "broad fingertip" ] ], "xref": [ "UMLS:C1968816" ], "is_a": [ "HP:0001211" ], "is_obsolete": "", "replace_id": "" }, "HP:0011301": { "name": [ "absent foot", "absent foot" ], "alt_id": [], "def": "The total absence of the foot, with no bony elements distal to the tibia or fibula.", "synonym": [ [ "absent foot", "absent foot" ], [ "aplasia of the foot", "aplasia of the foot" ], [ "apodia", "apodia" ] ], "xref": [ "SNOMEDCT_US:371197005", "UMLS:C0265624" ], "is_a": [ "HP:0006494" ], "is_obsolete": "", "replace_id": "" }, "HP:0011302": { "name": [ "long palm", "long palm" ], "alt_id": [ "HP:0001502" ], "def": "For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length.", "synonym": [ [ "long palm", "long palm" ] ], "xref": [ "UMLS:C4023422" ], "is_a": [ "HP:0100871" ], "is_obsolete": "", "replace_id": "" }, "HP:0011303": { "name": [ "convex contour of sole", "convex contour of sole" ], "alt_id": [], "def": "The contour of the foot in lateral profile has a convex shape.", "synonym": [], "xref": [ "UMLS:C4023421" ], "is_a": [ "HP:0100872" ], "is_obsolete": "", "replace_id": "" }, "HP:0011304": { "name": [ "broad thumb", "broad thumb" ], "alt_id": [ "HP:0001173", "HP:0001240", "HP:0004073", "HP:0009651" ], "def": "Increased thumb width without increased dorso-ventral dimension.", "synonym": [ [ "broad phalanges of the thumb", "broad phalanx of the thumb" ], [ "broad thumb", "broad thumb" ], [ "broad thumbs", "broad thumb" ], [ "wide / broad thumb", "wide / broad thumb" ], [ "wide / broad thumb phalanges", "wide / broad thumb phalanx" ] ], "xref": [ "SNOMEDCT_US:249773003", "UMLS:C0426891" ], "is_a": [ "HP:0009602", "HP:0009768" ], "is_obsolete": "", "replace_id": "" }, "HP:0011305": { "name": [ "partial absence of toe", "partial absence of toe" ], "alt_id": [], "def": "The absence of a phalangeal segment of a toe or hallux.", "synonym": [ [ "hypophalangy of toes", "hypophalangy of toe" ], [ "partial absence of toe", "partial absence of toe" ] ], "xref": [ "UMLS:C4021169" ], "is_a": [ "HP:0010760" ], "is_obsolete": "", "replace_id": "" }, "HP:0011307": { "name": [ "splayed toes", "splay toe" ], "alt_id": [], "def": "Divergence of digits along the anteroposterior axis (in the plane of the sole).", "synonym": [ [ "splayed toes", "splay toe" ] ], "xref": [ "UMLS:C2117390" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0011308": { "name": [ "slender toe", "slender toe" ], "alt_id": [ "HP:0200091" ], "def": "Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.", "synonym": [ [ "narrow toe", "narrow toe" ], [ "slender toe", "slender toe" ] ], "xref": [ "UMLS:C4021168" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0011309": { "name": [ "tapered toe", "taper toe" ], "alt_id": [ "HP:0008088", "HP:0200089" ], "def": "The gradual reduction in girth of the toe from proximal to distal.", "synonym": [ [ "tapered toe", "taper toe" ], [ "tapering toes", "tapering toe" ] ], "xref": [ "UMLS:C4021167" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0011310": { "name": [ "bridged palmar crease", "bridge palmar crease" ], "alt_id": [], "def": "A crease that connects the proximal and distal transverse palmar creases.", "synonym": [ [ "bridged palm line", "bridge palm line" ], [ "transitional palmar crease", "transitional palmar crease" ] ], "xref": [ "UMLS:C4021166" ], "is_a": [ "HP:0010490" ], "is_obsolete": "", "replace_id": "" }, "HP:0011311": { "name": [ "sydney crease", "sydney crease" ], "alt_id": [], "def": "Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.", "synonym": [], "xref": [ "UMLS:C4023420" ], "is_a": [ "HP:0010490" ], "is_obsolete": "", "replace_id": "" }, "HP:0011312": { "name": [ "fused nails", "fuse nail" ], "alt_id": [], "def": "A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.", "synonym": [ [ "fused nails", "fuse nail" ] ], "xref": [ "UMLS:C4023419" ], "is_a": [ "HP:0002164" ], "is_obsolete": "", "replace_id": "" }, "HP:0011313": { "name": [ "narrow nail", "narrow nail" ], "alt_id": [ "HP:0200076" ], "def": "Decreased width of nail.", "synonym": [ [ "narrow nail", "narrow nail" ] ], "xref": [ "UMLS:C4021829" ], "is_a": [ "HP:0002164" ], "is_obsolete": "", "replace_id": "" }, "HP:0011314": { "name": [ "abnormality of long bone morphology", "abnormality of long bone morphology" ], "alt_id": [ "HP:0100713", "HP:0100714", "HP:0100715" ], "def": "An abnormality of size or shape of the long bones.", "synonym": [ [ "abnormal shape of long bone", "abnormal shape of long bone" ], [ "abnormality of the tubular bones", "abnormality of the tubular bone" ] ], "xref": [ "UMLS:C4021165" ], "is_a": [ "HP:0011844" ], "is_obsolete": "", "replace_id": "" }, "HP:0011315": { "name": [ "unicoronal synostosis", "unicoronal synostosis" ], "alt_id": [], "def": "Synostosis affecting only one of the coronal sutures.", "synonym": [ [ "unilateral coronal craniosynostosis", "unilateral coronal craniosynostosis" ], [ "unilateral coronal suture craniosynostosis", "unilateral coronal suture craniosynostosis" ], [ "unilateral coronal suture synostosis", "unilateral coronal suture synostosis" ] ], "xref": [ "UMLS:C4020756", "UMLS:C4023418" ], "is_a": [ "HP:0004440" ], "is_obsolete": "", "replace_id": "" }, "HP:0011316": { "name": [ "left unicoronal synostosis", "leave unicoronal synostosis" ], "alt_id": [], "def": "Synostosis affecting only the left coronal suture.", "synonym": [], "xref": [ "UMLS:C4023417" ], "is_a": [ "HP:0011315" ], "is_obsolete": "", "replace_id": "" }, "HP:0011317": { "name": [ "right unicoronal synostosis", "right unicoronal synostosis" ], "alt_id": [], "def": "Unicoronal synostosis affecting only the right coronal suture.", "synonym": [], "xref": [ "UMLS:C4023416" ], "is_a": [ "HP:0011315" ], "is_obsolete": "", "replace_id": "" }, "HP:0011318": { "name": [ "bicoronal synostosis", "bicoronal synostosis" ], "alt_id": [], "def": "Synostosis affecting the right and the left coronal suture.", "synonym": [ [ "bilateral coronal craniosynostosis", "bilateral coronal craniosynostosis" ], [ "bilateral coronal suture craniosynostosis", "bilateral coronal suture craniosynostosis" ], [ "bilateral coronal suture synostosis", "bilateral coronal suture synostosis" ] ], "xref": [ "UMLS:C4021164" ], "is_a": [ "HP:0004440" ], "is_obsolete": "", "replace_id": "" }, "HP:0011319": { "name": [ "bilambdoid synostosis", "bilambdoid synostosis" ], "alt_id": [], "def": "Premature synostosis of both lambdoid sutures.", "synonym": [ [ "bilateral lambdoid craniosynostosis", "bilateral lambdoid craniosynostosis" ], [ "bilateral lambdoid suture synostosis", "bilateral lambdoid suture synostosis" ] ], "xref": [ "UMLS:C4021163" ], "is_a": [ "HP:0004443" ], "is_obsolete": "", "replace_id": "" }, "HP:0011320": { "name": [ "unilambdoid synostosis", "unilambdoid synostosis" ], "alt_id": [], "def": "Premature synostosis of only one lambdoid suture.", "synonym": [ [ "unilateral lambdoid craniosynostosis", "unilateral lambdoid craniosynostosis" ], [ "unilateral lambdoid suture synostosis", "unilateral lambdoid suture synostosis" ] ], "xref": [ "UMLS:C4021162" ], "is_a": [ "HP:0004443" ], "is_obsolete": "", "replace_id": "" }, "HP:0011321": { "name": [ "left unilambdoid synostosis", "leave unilambdoid synostosis" ], "alt_id": [], "def": "Premature synostosis of only the left lambdoid suture.", "synonym": [], "xref": [ "UMLS:C4023415" ], "is_a": [ "HP:0011320" ], "is_obsolete": "", "replace_id": "" }, "HP:0011322": { "name": [ "right unilambdoid synostosis", "right unilambdoid synostosis" ], "alt_id": [], "def": "Premature synostosis of only the right lambdoid suture.", "synonym": [], "xref": [ "UMLS:C4023414" ], "is_a": [ "HP:0011320" ], "is_obsolete": "", "replace_id": "" }, "HP:0011323": { "name": [ "cleft of chin", "cleft of chin" ], "alt_id": [], "def": "Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin.", "synonym": [ [ "cleft of chin", "cleft of chin" ], [ "midline defect of chin", "midline defect of chin" ] ], "xref": [ "UMLS:C1849227" ], "is_a": [ "HP:0000306" ], "is_obsolete": "", "replace_id": "" }, "HP:0011324": { "name": [ "multiple suture craniosynostosis", "multiple suture craniosynostosis" ], "alt_id": [], "def": "Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.", "synonym": [ [ "multisutural craniosynostosis", "multisutural craniosynostosis" ] ], "xref": [ "UMLS:C4021161" ], "is_a": [ "HP:0001363" ], "is_obsolete": "", "replace_id": "" }, "HP:0011325": { "name": [ "pansynostosis", "pansynostosis" ], "alt_id": [], "def": "Craniosynostosis of all calvarial sutures.", "synonym": [ [ "sysnostosis of all cranial sutures", "sysnostosis of all cranial suture" ] ], "xref": [ "UMLS:C4021827" ], "is_a": [ "HP:0011324" ], "is_obsolete": "", "replace_id": "" }, "HP:0011326": { "name": [ "anterior plagiocephaly", "anterior plagiocephaly" ], "alt_id": [], "def": "Asymmetry of the anterior part of the skull.", "synonym": [ [ "anterior flat head syndrome", "anterior flat head syndrome" ], [ "coronal synostosis", "coronal synostosis" ], [ "deformational anterior plagiocephaly", "deformational anterior plagiocephaly" ], [ "deformational frontal plagiocephaly", "deformational frontal plagiocephaly" ], [ "frontal plagiocephaly", "frontal plagiocephaly" ], [ "positional anterior plagiocephaly", "positional anterior plagiocephaly" ], [ "positional frontal plagiocephaly", "positional frontal plagiocephaly" ], [ "unicoronal craniosynostosis", "unicoronal craniosynostosis" ] ], "xref": [ "SNOMEDCT_US:254020001", "UMLS:C0432124", "UMLS:C4023413", "UMLS:C4280328", "UMLS:C4280329", "UMLS:C4280330" ], "is_a": [ "HP:0001357" ], "is_obsolete": "", "replace_id": "" }, "HP:0011327": { "name": [ "posterior plagiocephaly", "posterior plagiocephaly" ], "alt_id": [], "def": "Asymmetry of the posterior part of the skull.", "synonym": [ [ "deformational posterior plagiocephaly", "deformational posterior plagiocephaly" ], [ "occipital plagiocephaly", "occipital plagiocephaly" ] ], "xref": [ "UMLS:C4021160" ], "is_a": [ "HP:0001357" ], "is_obsolete": "", "replace_id": "" }, "HP:0011328": { "name": [ "abnormality of fontanelles", "abnormality of fontanelle" ], "alt_id": [], "def": "An abnormality of the fontanelle.", "synonym": [ [ "anomaly of the fontanelles", "anomaly of the fontanelle" ] ], "xref": [ "UMLS:C4020755" ], "is_a": [ "HP:0000235" ], "is_obsolete": "", "replace_id": "" }, "HP:0011329": { "name": [ "abnormality of cranial sutures", "abnormality of cranial suture" ], "alt_id": [], "def": "Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.", "synonym": [ [ "abnormality of cranial sutures", "abnormality of cranial suture" ], [ "abnormality of the bregma sutures", "abnormality of the bregma suture" ], [ "abnormality of the calvarium sutures", "abnormality of the calvarium suture" ], [ "abnormality of the cranial sutures", "abnormality of the cranial suture" ], [ "abnormality of the skull suture", "abnormality of the skull suture" ] ], "xref": [ "UMLS:C4023412" ], "is_a": [ "HP:0000235" ], "is_obsolete": "", "replace_id": "" }, "HP:0011330": { "name": [ "metopic synostosis", "metopic synostosis" ], "alt_id": [], "def": "Premature fusion of the metopic suture.", "synonym": [ [ "metopic craniosynostosis", "metopic craniosynostosis" ], [ "metopic suture craniosynostosis", "metopic suture craniosynostosis" ] ], "xref": [ "MSH:C562951", "MSH:D003398", "SNOMEDCT_US:109409003", "UMLS:C0432122", "UMLS:C1860819" ], "is_a": [ "HP:0005556" ], "is_obsolete": "", "replace_id": "" }, "HP:0011331": { "name": [ "hemifacial atrophy", "hemifacial atrophy" ], "alt_id": [], "def": "Unilateral atrophy of facial tissues, including muscles, bones and skin.", "synonym": [ [ "atrophy of half of face", "atrophy of half of face" ], [ "atrophy of one side of the face", "atrophy of one side of the face" ], [ "facial hemiatrophy", "facial hemiatrophy" ] ], "xref": [ "MSH:D005150", "SNOMEDCT_US:718224004", "SNOMEDCT_US:95834000", "UMLS:C0015458" ], "is_a": [ "HP:0000324" ], "is_obsolete": "", "replace_id": "" }, "HP:0011332": { "name": [ "hemifacial hypoplasia", "hemifacial hypoplasia" ], "alt_id": [], "def": "Unilateral underdevelopment of the facial tissues, including muscles and bones.", "synonym": [ [ "decrease in size of half of face", "decrease in size of half of face" ], [ "decrease in size of one side of the face", "decrease in size of one side of the face" ], [ "decreased size of half of the face", "decreased size of half of the face" ], [ "decreased size of one side of the face", "decreased size of one side of the face" ], [ "hemifacial microsomia", "hemifacial microsomia" ], [ "shrinking of half of face", "shrinking of half of face" ], [ "shrinking of one side of the face", "shrinking of one side of the face" ] ], "xref": [ "MSH:D006053", "SNOMEDCT_US:254025006", "UMLS:C3495417", "UMLS:C4023411" ], "is_a": [ "HP:0000324" ], "is_obsolete": "", "replace_id": "" }, "HP:0011333": { "name": [ "asymmetric crying face", "asymmetric cry face" ], "alt_id": [], "def": "Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side.", "synonym": [ [ "asymmetric crying face", "asymmetric cry face" ], [ "hypoplasia of depressor angula oris muscle", "hypoplasia of depressor angula oris muscle" ], [ "partial unilateral facial paresis", "partial unilateral facial paresis" ] ], "xref": [ "MSH:C535349", "SNOMEDCT_US:51409009", "UMLS:C0431406", "UMLS:C4280327" ], "is_a": [ "HP:0000324" ], "is_obsolete": "", "replace_id": "" }, "HP:0011334": { "name": [ "facial shape deformation", "facial shape deformation" ], "alt_id": [], "def": "", "synonym": [ [ "distortion of facial shape", "distortion of facial shape" ], [ "facial shape compression", "facial shape compression" ], [ "facial shape deformation", "facial shape deformation" ] ], "xref": [ "UMLS:C4021159" ], "is_a": [ "HP:0001999" ], "is_obsolete": "", "replace_id": "" }, "HP:0011335": { "name": [ "frontal hirsutism", "frontal hirsutism" ], "alt_id": [], "def": "Excessive amount of hair growth on forehead.", "synonym": [ [ "hairy forehead", "hairy forehead" ], [ "hirsute forehead", "hirsute forehead" ] ], "xref": [ "UMLS:C1839830" ], "is_a": [ "HP:0000290", "HP:0009937" ], "is_obsolete": "", "replace_id": "" }, "HP:0011336": { "name": [ "bitemporal forceps marks", "bitemporal forceps mark" ], "alt_id": [], "def": "Bilateral temporal scarlike defects, which are said to resemble forceps marks.", "synonym": [ [ "bitemporal aplasia cutis congenita", "bitemporal aplasia cutis congenita" ], [ "congenital ectodermal dysplasia of the face", "congenital ectodermal dysplasia of the face" ], [ "congenital , bilateral , scarlike facial lesions", "congenital , bilateral , scarlike facial lesion" ], [ "focal facial dermal dysplasia", "focal facial dermal dysplasia" ], [ "temporal skin defect", "temporal skin defect" ] ], "xref": [ "UMLS:C4020754", "UMLS:C4023409" ], "is_a": [ "HP:0000606" ], "is_obsolete": "", "replace_id": "" }, "HP:0011337": { "name": [ "abnormality of mouth size", "abnormality of mouth size" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of mouth size", "abnormality of mouth size" ], [ "anomaly of mouth size", "anomaly of mouth size" ] ], "xref": [ "UMLS:C4023408" ], "is_a": [ "HP:0000163" ], "is_obsolete": "", "replace_id": "" }, "HP:0011338": { "name": [ "abnormality of mouth shape", "abnormality of mouth shape" ], "alt_id": [], "def": "An abnormality of the outline, configuration, or contour of the mouth.", "synonym": [ [ "abnormality of mouth shape", "abnormality of mouth shape" ], [ "anomaly of mouth shape", "anomaly of mouth shape" ], [ "unusual mouth shape", "unusual mouth shape" ] ], "xref": [ "Fyler:4874", "UMLS:C4023407" ], "is_a": [ "HP:0000163" ], "is_obsolete": "", "replace_id": "" }, "HP:0011339": { "name": [ "abnormality of upper lip vermillion", "abnormality of upper lip vermillion" ], "alt_id": [], "def": "An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.", "synonym": [ [ "abnormality of the red part of the upper lip", "abnormality of the red part of the upper lip" ], [ "anomaly of the upper lip vermillion", "anomaly of the upper lip vermillion" ], [ "deformity of the upper lip vermillion", "deformity of the upper lip vermillion" ], [ "malformation of the upper lip vermillion", "malformation of the upper lip vermillion" ] ], "xref": [ "UMLS:C4023406" ], "is_a": [ "HP:0000177" ], "is_obsolete": "", "replace_id": "" }, "HP:0011340": { "name": [ "incomplete cleft of the upper lip", "incomplete cleft of the upper lip" ], "alt_id": [], "def": "A subtle unilateral cleft of the upper lip, which may appear as a small indentation.", "synonym": [ [ "forme fruste unilateral cleft lip", "forme fruste unilateral cleft lip" ], [ "incomplete cheiloschisis", "incomplete cheiloschisis" ], [ "incomplete cleft of the upper lip", "incomplete cleft of the upper lip" ], [ "notched cleft of the upper lip", "notched cleft of the upper lip" ], [ "partial cleft of the upper lip", "partial cleft of the upper lip" ] ], "xref": [ "UMLS:C4021158" ], "is_a": [ "HP:0000204" ], "is_obsolete": "", "replace_id": "" }, "HP:0011341": { "name": [ "long upper lip", "long upper lip" ], "alt_id": [], "def": "Increased width of the upper lip.", "synonym": [ [ "elongation of upper lip", "elongation of upper lip" ], [ "increased height of upper lip", "increase height of upper lip" ], [ "increased vertical length of upper lip", "increased vertical length of upper lip" ], [ "long upper lip", "long upper lip" ] ], "xref": [ "UMLS:C3151495" ], "is_a": [ "HP:0000177" ], "is_obsolete": "", "replace_id": "" }, "HP:0011342": { "name": [ "mild global developmental delay", "mild global developmental delay" ], "alt_id": [], "def": "A mild delay in the achievement of motor or mental milestones in the domains of development of a child.", "synonym": [ [ "global developmental delay , mild", "global developmental delay , mild" ], [ "psychomotor retardation , mild", "psychomotor retardation , mild" ] ], "xref": [ "UMLS:C2229182", "UMLS:C4012968" ], "is_a": [ "HP:0001263" ], "is_obsolete": "", "replace_id": "" }, "HP:0011343": { "name": [ "moderate global developmental delay", "moderate global developmental delay" ], "alt_id": [], "def": "A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.", "synonym": [ [ "global developmental delay , moderate", "global developmental delay , moderate" ], [ "psychomotor retardation , moderate", "psychomotor retardation , moderate" ] ], "xref": [ "UMLS:C2237142" ], "is_a": [ "HP:0001263" ], "is_obsolete": "", "replace_id": "" }, "HP:0011344": { "name": [ "severe global developmental delay", "severe global developmental delay" ], "alt_id": [], "def": "A severe delay in the achievement of motor or mental milestones in the domains of development of a child.", "synonym": [ [ "global developmental delay , severe", "global developmental delay , severe" ], [ "severe psychomotor retardation", "severe psychomotor retardation" ] ], "xref": [ "UMLS:C1837397", "UMLS:C1854919" ], "is_a": [ "HP:0001263" ], "is_obsolete": "", "replace_id": "" }, "HP:0011345": { "name": [ "moderate expressive language delay", "moderate expressive language delay" ], "alt_id": [], "def": "A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.", "synonym": [], "xref": [ "SNOMEDCT_US:62211000119103", "UMLS:C3532933" ], "is_a": [ "HP:0002474" ], "is_obsolete": "", "replace_id": "" }, "HP:0011346": { "name": [ "mild expressive language delay", "mild expressive language delay" ], "alt_id": [], "def": "A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.", "synonym": [], "xref": [ "SNOMEDCT_US:62231000119108", "UMLS:C3532934" ], "is_a": [ "HP:0002474" ], "is_obsolete": "", "replace_id": "" }, "HP:0011347": { "name": [ "abnormality of ocular abduction", "abnormality of ocular abduction" ], "alt_id": [], "def": "An abnormality involving the movement of the eye outwards.", "synonym": [], "xref": [ "UMLS:C4023405" ], "is_a": [ "HP:0000496" ], "is_obsolete": "", "replace_id": "" }, "HP:0011348": { "name": [ "abnormal sixth cranial nerve morphology", "abnormal sixth cranial nerve morphology" ], "alt_id": [], "def": "Any structural abnormality of the abducens nerve.", "synonym": [ [ "abnormal abducens nerve morphology", "abnormal abducens nerve morphology" ], [ "abnormality of the sixth cranial nerve", "abnormality of the sixth cranial nerve" ] ], "xref": [ "UMLS:C4023404" ], "is_a": [ "HP:0001291" ], "is_obsolete": "", "replace_id": "" }, "HP:0011349": { "name": [ "obsolete abducens palsy", "obsolete abducens palsy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0006897" }, "HP:0011350": { "name": [ "mild receptive language delay", "mild receptive language delay" ], "alt_id": [], "def": "A mild delay in the acquisition of the ability to understand the speech of others.", "synonym": [], "xref": [ "SNOMEDCT_US:89501000119108", "UMLS:C3532948" ], "is_a": [ "HP:0010863" ], "is_obsolete": "", "replace_id": "" }, "HP:0011351": { "name": [ "moderate receptive language delay", "moderate receptive language delay" ], "alt_id": [], "def": "A moderate delay in the acquisition of the ability to understand the speech of others.", "synonym": [], "xref": [ "SNOMEDCT_US:89381000119107", "UMLS:C3532946" ], "is_a": [ "HP:0010863" ], "is_obsolete": "", "replace_id": "" }, "HP:0011352": { "name": [ "severe receptive language delay", "severe receptive language delay" ], "alt_id": [], "def": "A severe delay in the acquisition of the ability to understand the speech of others.", "synonym": [], "xref": [ "SNOMEDCT_US:89391000119105", "UMLS:C3532947" ], "is_a": [ "HP:0010863" ], "is_obsolete": "", "replace_id": "" }, "HP:0011353": { "name": [ "arterial intimal fibrosis", "arterial intimal fibrosis" ], "alt_id": [], "def": "Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries.", "synonym": [ [ "intimal fibrosis", "intimal fibrosis" ] ], "xref": [ "UMLS:C4020753", "UMLS:C4023403" ], "is_a": [ "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:0011354": { "name": [ "generalized abnormality of skin", "generalize abnormality of skin" ], "alt_id": [], "def": "An abnormality of the skin that is not localized to any one particular region.", "synonym": [ [ "generalised abnormality of skin", "generalised abnormality of skin" ], [ "generalized abnormality of skin", "generalize abnormality of skin" ] ], "xref": [ "UMLS:C4021157" ], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0011355": { "name": [ "localized skin lesion", "localize skin lesion" ], "alt_id": [], "def": "A lesion of the skin that is located in a specific region rather than being generalized.", "synonym": [ [ "localised skin lesion", "localise skin lesion" ], [ "localized skin lesion", "localize skin lesion" ] ], "xref": [ "UMLS:C0850826" ], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0011356": { "name": [ "regional abnormality of skin", "regional abnormality of skin" ], "alt_id": [], "def": "An abnormality of the skin that is restricted to a particular body region.", "synonym": [], "xref": [ "UMLS:C4023402" ], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0011357": { "name": [ "obsolete abnormality of hair density", "obsolete abnormality of hair density" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0011362" }, "HP:0011358": { "name": [ "generalized hypopigmentation of hair", "generalize hypopigmentation of hair" ], "alt_id": [], "def": "Reduced pigmentation of hair diffusely.", "synonym": [ [ "generalised hypopigmentation of hair", "generalised hypopigmentation of hair" ] ], "xref": [ "UMLS:C4023400" ], "is_a": [ "HP:0005599" ], "is_obsolete": "", "replace_id": "" }, "HP:0011359": { "name": [ "dry hair", "dry hair" ], "alt_id": [ "HP:0200077", "HP:0200079", "HP:0200080" ], "def": "Hair that lacks the lustre (shine or gleam) of normal hair.", "synonym": [ [ "dry hair", "dry hair" ] ], "xref": [ "SNOMEDCT_US:79395009", "UMLS:C0277960" ], "is_a": [ "HP:0010719" ], "is_obsolete": "", "replace_id": "" }, "HP:0011360": { "name": [ "acquired abnormal hair pattern", "acquire abnormal hair pattern" ], "alt_id": [], "def": "An abnormality of the distribution of hair growth that is acquired during the course of life.", "synonym": [ [ "acquired abnormal hair pattern", "acquire abnormal hair pattern" ] ], "xref": [ "UMLS:C4023399" ], "is_a": [ "HP:0010720" ], "is_obsolete": "", "replace_id": "" }, "HP:0011361": { "name": [ "congenital abnormal hair pattern", "congenital abnormal hair pattern" ], "alt_id": [], "def": "A congenital abnormality of the distribution of hair growth.", "synonym": [ [ "abnormal hair pattern since birth", "abnormal hair pattern since birth" ] ], "xref": [ "UMLS:C4023398" ], "is_a": [ "HP:0010720" ], "is_obsolete": "", "replace_id": "" }, "HP:0011362": { "name": [ "abnormal hair quantity", "abnormal hair quantity" ], "alt_id": [ "HP:0002115", "HP:0011357" ], "def": "An abnormal amount of hair.", "synonym": [ [ "abnormal hair quantity", "abnormal hair quantity" ], [ "abnormality of hair density", "abnormality of hair density" ] ], "xref": [ "UMLS:C4023397", "UMLS:C4023401" ], "is_a": [ "HP:0001595" ], "is_obsolete": "", "replace_id": "" }, "HP:0011363": { "name": [ "abnormality of hair growth rate", "abnormality of hair growth rate" ], "alt_id": [], "def": "Hair whose growth rate deviates from the norm.", "synonym": [ [ "abnormality of hair growth rate", "abnormality of hair growth rate" ], [ "abnormality of pace of hair growth", "abnormality of pace of hair growth" ], [ "abnormality of speed of hair growth", "abnormality of speed of hair growth" ] ], "xref": [ "UMLS:C4023396" ], "is_a": [ "HP:0040170" ], "is_obsolete": "", "replace_id": "" }, "HP:0011364": { "name": [ "white hair", "white hair" ], "alt_id": [], "def": "Hypopigmented hair that appears white.", "synonym": [ [ "white hair", "white hair" ] ], "xref": [ "SNOMEDCT_US:297993006", "UMLS:C0239804" ], "is_a": [ "HP:0011358" ], "is_obsolete": "", "replace_id": "" }, "HP:0011365": { "name": [ "patchy hypopigmentation of hair", "patchy hypopigmentation of hair" ], "alt_id": [], "def": "Reduced pigmentation of hair in patches.", "synonym": [], "xref": [ "UMLS:C4023395" ], "is_a": [ "HP:0005599" ], "is_obsolete": "", "replace_id": "" }, "HP:0011367": { "name": [ "yellow nails", "yellow nail" ], "alt_id": [], "def": "Yellowish discoloration of the nails.", "synonym": [ [ "yellow nails", "yellow nail" ] ], "xref": [ "SNOMEDCT_US:45342007", "UMLS:C1768507" ], "is_a": [ "HP:0100643" ], "is_obsolete": "", "replace_id": "" }, "HP:0011368": { "name": [ "epidermal thickening", "epidermal thickening" ], "alt_id": [ "HP:0001035" ], "def": "Thickening of the epidermal layer of the skin.", "synonym": [ [ "abnormality of keratinization", "abnormality of keratinization" ] ], "xref": [ "UMLS:C0494876", "UMLS:C4020752" ], "is_a": [ "HP:0001072" ], "is_obsolete": "", "replace_id": "" }, "HP:0011369": { "name": [ "mongolian blue spot", "mongolian blue spot" ], "alt_id": [], "def": "Congenital deep dermal melanosis in the sacral area.", "synonym": [], "xref": [ "MSH:D049328", "SNOMEDCT_US:40467008", "UMLS:C0265985" ], "is_a": [ "HP:0001034" ], "is_obsolete": "", "replace_id": "" }, "HP:0011370": { "name": [ "recurrent cutaneous fungal infections", "recurrent cutaneous fungal infection" ], "alt_id": [], "def": "Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.", "synonym": [], "xref": [ "UMLS:C4023394" ], "is_a": [ "HP:0001581", "HP:0002841" ], "is_obsolete": "", "replace_id": "" }, "HP:0011371": { "name": [ "recurrent viral skin infections", "recurrent viral skin infection" ], "alt_id": [], "def": "Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections.", "synonym": [ [ "recurrent viral skin infections", "recurrent viral skin infection" ] ], "xref": [ "UMLS:C4023393" ], "is_a": [ "HP:0001581", "HP:0004429" ], "is_obsolete": "", "replace_id": "" }, "HP:0011372": { "name": [ "aplasia of the inner ear", "aplasia of the inner ear" ], "alt_id": [], "def": "Absence of the inner ear due to a developmental defect.", "synonym": [ [ "absent inner ear", "absent inner ear" ], [ "aplasia of the labyrinth", "aplasia of the labyrinth" ], [ "labyrinthine aplasia", "labyrinthine aplasia" ], [ "michel deformity", "michel deformity" ] ], "xref": [ "SNOMEDCT_US:71973003", "UMLS:C0266604" ], "is_a": [ "HP:0008774" ], "is_obsolete": "", "replace_id": "" }, "HP:0011373": { "name": [ "incomplete partition of the cochlea", "incomplete partition of the cochlea" ], "alt_id": [], "def": "Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema.", "synonym": [], "xref": [ "UMLS:C4023392" ], "is_a": [ "HP:0008554" ], "is_obsolete": "", "replace_id": "" }, "HP:0011374": { "name": [ "incomplete partition of the cochlea type i", "incomplete partition of the cochlea type i" ], "alt_id": [], "def": "Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation.", "synonym": [], "xref": [ "UMLS:C4023391" ], "is_a": [ "HP:0011373" ], "is_obsolete": "", "replace_id": "" }, "HP:0011375": { "name": [ "cochlear aplasia", "cochlear aplasia" ], "alt_id": [], "def": "Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.", "synonym": [ [ "absent cochlea", "absent cochlea" ] ], "xref": [ "UMLS:C4023390" ], "is_a": [ "HP:0011395" ], "is_obsolete": "", "replace_id": "" }, "HP:0011376": { "name": [ "morphological abnormality of the vestibule of the inner ear", "morphological abnormality of the vestibule of the inner ear" ], "alt_id": [], "def": "A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.", "synonym": [ [ "vestibular abnormality", "vestibular abnormality" ] ], "xref": [ "UMLS:C0542259" ], "is_a": [ "HP:0011390" ], "is_obsolete": "", "replace_id": "" }, "HP:0011377": { "name": [ "aplasia of the vestibule", "aplasia of the vestibule" ], "alt_id": [], "def": "Complete absence of the vestibule of the inner ear.", "synonym": [ [ "absent vestibule", "absent vestibule" ] ], "xref": [ "UMLS:C4023389" ], "is_a": [ "HP:0011376" ], "is_obsolete": "", "replace_id": "" }, "HP:0011378": { "name": [ "hypoplasia of the vestibule of the inner ear", "hypoplasia of the vestibule of the inner ear" ], "alt_id": [], "def": "Underdevelopment of the vestibule of the inner ear.", "synonym": [], "xref": [ "UMLS:C4023388" ], "is_a": [ "HP:0011376" ], "is_obsolete": "", "replace_id": "" }, "HP:0011379": { "name": [ "dilated vestibule of the inner ear", "dilate vestibule of the inner ear" ], "alt_id": [], "def": "Dilatation of the vestibule of the inner ear.", "synonym": [], "xref": [ "UMLS:C4023387" ], "is_a": [ "HP:0011376" ], "is_obsolete": "", "replace_id": "" }, "HP:0011380": { "name": [ "morphological abnormality of the semicircular canal", "morphological abnormality of the semicircular canal" ], "alt_id": [], "def": "An abnormality of the morphology of the semicircular canal.", "synonym": [], "xref": [ "UMLS:C4023386" ], "is_a": [ "HP:0011376" ], "is_obsolete": "", "replace_id": "" }, "HP:0011381": { "name": [ "aplasia of the semicircular canal", "aplasia of the semicircular canal" ], "alt_id": [], "def": "Absence of the semicircular canal.", "synonym": [ [ "absent semicircular canal", "absent semicircular canal" ] ], "xref": [ "UMLS:C4023385" ], "is_a": [ "HP:0011380" ], "is_obsolete": "", "replace_id": "" }, "HP:0011382": { "name": [ "hypoplasia of the semicircular canal", "hypoplasia of the semicircular canal" ], "alt_id": [], "def": "Underdevelopment of the semicircular canal.", "synonym": [ [ "hypoplasia of the semicircular canals", "hypoplasia of the semicircular canal" ], [ "small semicircular canal", "small semicircular canal" ] ], "xref": [ "UMLS:C3552156" ], "is_a": [ "HP:0011380" ], "is_obsolete": "", "replace_id": "" }, "HP:0011383": { "name": [ "enlarged semicircular canal", "enlarge semicircular canal" ], "alt_id": [], "def": "Increased size of the semicircular canal.", "synonym": [ [ "dilated semicircular canal", "dilate semicircular canal" ] ], "xref": [ "UMLS:C4021156" ], "is_a": [ "HP:0011380" ], "is_obsolete": "", "replace_id": "" }, "HP:0011384": { "name": [ "abnormality of the internal auditory canal", "abnormality of the internal auditory canal" ], "alt_id": [], "def": "An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.", "synonym": [ [ "abnormality of the internal acoustic meatus", "abnormality of the internal acoustic meatus" ] ], "xref": [ "UMLS:C4021155" ], "is_a": [ "HP:0011390" ], "is_obsolete": "", "replace_id": "" }, "HP:0011385": { "name": [ "absent internal auditory canal", "absent internal auditory canal" ], "alt_id": [], "def": "Aplasia of the internal auditory canal.", "synonym": [], "xref": [ "UMLS:C4023384" ], "is_a": [ "HP:0011384" ], "is_obsolete": "", "replace_id": "" }, "HP:0011386": { "name": [ "narrow internal auditory canal", "narrow internal auditory canal" ], "alt_id": [], "def": "Reduction in diameter of the internal auditory canal.", "synonym": [], "xref": [ "UMLS:C4023383" ], "is_a": [ "HP:0011384" ], "is_obsolete": "", "replace_id": "" }, "HP:0011387": { "name": [ "enlarged vestibular aqueduct", "enlarge vestibular aqueduct" ], "alt_id": [], "def": "Increased size of the vestibular aqueduct.", "synonym": [ [ "dilated vestibular aqueduct", "dilate vestibular aqueduct" ], [ "widened vestibular aqueduct", "widen vestibular aqueduct" ] ], "xref": [ "MSH:C566366", "UMLS:C1863752" ], "is_a": [ "HP:0011376" ], "is_obsolete": "", "replace_id": "" }, "HP:0011388": { "name": [ "enlarged cochlear aqueduct", "enlarge cochlear aqueduct" ], "alt_id": [], "def": "Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular.", "synonym": [ [ "dilated cochlear aqueduct", "dilate cochlear aqueduct" ] ], "xref": [ "UMLS:C4021154" ], "is_a": [ "HP:0000375" ], "is_obsolete": "", "replace_id": "" }, "HP:0011389": { "name": [ "functional abnormality of the inner ear", "functional abnormality of the inner ear" ], "alt_id": [], "def": "An abnormality of the function of the inner ear.", "synonym": [ [ "functional abnormality of the inner ear", "functional abnormality of the inner ear" ] ], "xref": [ "UMLS:C4023382" ], "is_a": [ "HP:0031704" ], "is_obsolete": "", "replace_id": "" }, "HP:0011390": { "name": [ "morphological abnormality of the inner ear", "morphological abnormality of the inner ear" ], "alt_id": [], "def": "A structural anomaly of the internal part of the ear.", "synonym": [], "xref": [ "UMLS:C4023381" ], "is_a": [ "HP:0000359" ], "is_obsolete": "", "replace_id": "" }, "HP:0011391": { "name": [ "morphological abnormality of the nerves of the inner ear", "morphological abnormality of the nerve of the inner ear" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023380" ], "is_a": [ "HP:0011390" ], "is_obsolete": "", "replace_id": "" }, "HP:0011392": { "name": [ "abnormality of the vestibular nerve", "abnormality of the vestibular nerve" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023379" ], "is_a": [ "HP:0011391" ], "is_obsolete": "", "replace_id": "" }, "HP:0011393": { "name": [ "aplasia of the vestibular nerve .", "aplasia of the vestibular nerve ." ], "alt_id": [], "def": "Absence of the vestibular nerve", "synonym": [ [ "absent cranial nerve viii", "absent cranial nerve viii" ], [ "absent the eighth cranial nerve", "absent the eighth cranial nerve" ], [ "absent vestribular nerve", "absent vestribular nerve" ], [ "aplasia of cranial nerve viii", "aplasia of cranial nerve viii" ], [ "aplasia of the eighth cranial nerve", "aplasia of the eighth cranial nerve" ] ], "xref": [ "UMLS:C4020751", "UMLS:C4021153" ], "is_a": [ "HP:0011392" ], "is_obsolete": "", "replace_id": "" }, "HP:0011394": { "name": [ "hypoplasia of the vestibular nerve", "hypoplasia of the vestibular nerve" ], "alt_id": [], "def": "Underdevelopment of the vestibular nerve.", "synonym": [ [ "hypoplasia of cranial nerve viii", "hypoplasia of cranial nerve viii" ], [ "hypoplasia of the eighth cranial nerve", "hypoplasia of the eighth cranial nerve" ], [ "thin vestibular nerve", "thin vestibular nerve" ] ], "xref": [ "UMLS:C4020750" ], "is_a": [ "HP:0011392" ], "is_obsolete": "", "replace_id": "" }, "HP:0011395": { "name": [ "aplasia / hypoplasia of the cochlea", "aplasia / hypoplasia of the cochlea" ], "alt_id": [], "def": "Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.", "synonym": [ [ "absent / small cochlea", "absent / small cochlea" ], [ "absent / underdeveloped cochlea", "absent / underdevelop cochlea" ] ], "xref": [ "UMLS:C4023378" ], "is_a": [ "HP:0000375", "HP:0008774" ], "is_obsolete": "", "replace_id": "" }, "HP:0011396": { "name": [ "abnormality of the cochlear nerve", "abnormality of the cochlear nerve" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023377" ], "is_a": [ "HP:0011391" ], "is_obsolete": "", "replace_id": "" }, "HP:0011397": { "name": [ "abnormality of the dorsal column of the spinal cord", "abnormality of the dorsal column of the spinal cord" ], "alt_id": [], "def": "An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.", "synonym": [], "xref": [ "UMLS:C4023376" ], "is_a": [ "HP:0002143" ], "is_obsolete": "", "replace_id": "" }, "HP:0011398": { "name": [ "obsolete central hypotonia", "obsolete central hypotonia" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001252" }, "HP:0011399": { "name": [ "tibialis atrophy", "tibialis atrophy" ], "alt_id": [], "def": "Atrophy of the tibialis muscle.", "synonym": [ [ "tibialis muscle degeneration", "tibialis muscle degeneration" ] ], "xref": [ "UMLS:C4023375" ], "is_a": [ "HP:0008944" ], "is_obsolete": "", "replace_id": "" }, "HP:0011400": { "name": [ "abnormal cns myelination", "abnormal cns myelination" ], "alt_id": [ "HP:0002520", "HP:0004335" ], "def": "An abnormality of myelination of nerves in the central nervous system.", "synonym": [ [ "abnormal formation of myelin sheaths", "abnormal formation of myelin sheath" ] ], "xref": [ "UMLS:C4021152" ], "is_a": [ "HP:0002011", "HP:0012447" ], "is_obsolete": "", "replace_id": "" }, "HP:0011401": { "name": [ "delayed peripheral myelination", "delay peripheral myelination" ], "alt_id": [], "def": "Delayed myelination in the peripheral nervous system.", "synonym": [], "xref": [ "UMLS:C4023374" ], "is_a": [ "HP:0003130", "HP:0012448" ], "is_obsolete": "", "replace_id": "" }, "HP:0011402": { "name": [ "demyelinating sensory neuropathy", "demyelinate sensory neuropathy" ], "alt_id": [], "def": "Demyelination of peripheral sensory nerves.", "synonym": [], "xref": [ "UMLS:C4023373" ], "is_a": [ "HP:0007108" ], "is_obsolete": "", "replace_id": "" }, "HP:0011403": { "name": [ "abnormal umbilical cord blood vessels", "abnormal umbilical cord blood vessel" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023372" ], "is_a": [ "HP:0010881" ], "is_obsolete": "", "replace_id": "" }, "HP:0011404": { "name": [ "lethal short - trunk short stature", "lethal short - trunk short stature" ], "alt_id": [], "def": "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth.", "synonym": [ [ "lethal short - trunk dwarfism", "lethal short - trunk dwarfism" ] ], "xref": [ "UMLS:C4021151" ], "is_a": [ "HP:0003521" ], "is_obsolete": "", "replace_id": "" }, "HP:0011405": { "name": [ "childhood onset short - limb short stature", "childhood onset short - limb short stature" ], "alt_id": [ "HP:0003523" ], "def": "", "synonym": [ [ "short - limb dwarfism identifiable during childhood", "short - limb dwarfism identifiable during childhood" ] ], "xref": [ "UMLS:C1867487" ], "is_a": [ "HP:0008873" ], "is_obsolete": "", "replace_id": "" }, "HP:0011406": { "name": [ "infancy onset short - trunk short stature", "infancy onset short - trunk short stature" ], "alt_id": [ "HP:0008851" ], "def": "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy.", "synonym": [ [ "short - trunk dwarfism , identifiable in infancy", "short - trunk dwarfism , identifiable in infancy" ] ], "xref": [ "UMLS:C1846061" ], "is_a": [ "HP:0003521" ], "is_obsolete": "", "replace_id": "" }, "HP:0011407": { "name": [ "proportionate tall stature", "proportionate tall stature" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023371" ], "is_a": [ "HP:0000098" ], "is_obsolete": "", "replace_id": "" }, "HP:0011408": { "name": [ "moderate intrauterine growth retardation", "moderate intrauterine growth retardation" ], "alt_id": [], "def": "Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age.", "synonym": [], "xref": [ "UMLS:C4023370" ], "is_a": [ "HP:0001511" ], "is_obsolete": "", "replace_id": "" }, "HP:0011409": { "name": [ "abnormal placental membrane morphology", "abnormal placental membrane morphology" ], "alt_id": [], "def": "Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix.", "synonym": [ [ "abnormality of placental membranes", "abnormality of placental membrane" ] ], "xref": [ "UMLS:C4023369" ], "is_a": [ "HP:0001194" ], "is_obsolete": "", "replace_id": "" }, "HP:0011410": { "name": [ "caesarian section", "caesarian section" ], "alt_id": [], "def": "Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).", "synonym": [ [ "caesarian section", "caesarian section" ] ], "xref": [ "SNOMEDCT_US:200144004", "UMLS:C1384674" ], "is_a": [ "HP:0001787" ], "is_obsolete": "", "replace_id": "" }, "HP:0011411": { "name": [ "forceps delivery", "forceps delivery" ], "alt_id": [], "def": "", "synonym": [ [ "forceps delivery", "forceps delivery" ] ], "xref": [ "UMLS:C0341808" ], "is_a": [ "HP:0001787" ], "is_obsolete": "", "replace_id": "" }, "HP:0011412": { "name": [ "ventouse delivery", "ventouse delivery" ], "alt_id": [], "def": "Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately.", "synonym": [ [ "vacuum extraction", "vacuum extraction" ], [ "vacuum - assisted vaginal delivery", "vacuum - assist vaginal delivery" ] ], "xref": [ "MSH:D014620", "SNOMEDCT_US:10761101000119105", "SNOMEDCT_US:61586001", "UMLS:C0042225", "UMLS:C1456852", "UMLS:C2825567" ], "is_a": [ "HP:0001787" ], "is_obsolete": "", "replace_id": "" }, "HP:0011413": { "name": [ "shoulder dystocia", "shoulder dystocia" ], "alt_id": [], "def": "Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.", "synonym": [], "xref": [ "SNOMEDCT_US:89700002", "UMLS:C0269825" ], "is_a": [ "HP:0001787" ], "is_obsolete": "", "replace_id": "" }, "HP:0011414": { "name": [ "hydropic placenta", "hydropic placenta" ], "alt_id": [], "def": "An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.", "synonym": [ [ "hydrops of the placenta", "hydrops of the placenta" ] ], "xref": [ "SNOMEDCT_US:75094005", "UMLS:C0270254" ], "is_a": [ "HP:0006267" ], "is_obsolete": "", "replace_id": "" }, "HP:0011415": { "name": [ "calcified placenta", "calcify placenta" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:249174002", "UMLS:C0426234" ], "is_a": [ "HP:0100767" ], "is_obsolete": "", "replace_id": "" }, "HP:0011416": { "name": [ "placental infarction", "placental infarction" ], "alt_id": [], "def": "", "synonym": [ [ "placental thromboembolism", "placental thromboembolism" ] ], "xref": [ "SNOMEDCT_US:268585006", "UMLS:C0554393" ], "is_a": [ "HP:0100767" ], "is_obsolete": "", "replace_id": "" }, "HP:0011417": { "name": [ "long umbilical cord", "long umbilical cord" ], "alt_id": [], "def": "Increased length of the umbilical cord.", "synonym": [ [ "long umbilical cord", "long umbilical cord" ] ], "xref": [ "SNOMEDCT_US:237261008", "UMLS:C0405028" ], "is_a": [ "HP:0010881" ], "is_obsolete": "", "replace_id": "" }, "HP:0011418": { "name": [ "abnormal insertion of umbilical cord", "abnormal insertion of umbilical cord" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D055949", "SNOMEDCT_US:79668009", "UMLS:C0269852" ], "is_a": [ "HP:0010881" ], "is_obsolete": "", "replace_id": "" }, "HP:0011419": { "name": [ "placental abruption", "placental abruption" ], "alt_id": [], "def": "Separation of the placenta from the uterus wall before delivery.", "synonym": [ [ "abruptio placentae", "abruptio placenta" ] ], "xref": [ "MSH:D000037", "SNOMEDCT_US:405736009", "SNOMEDCT_US:415105001", "UMLS:C0000832" ], "is_a": [ "HP:0100767" ], "is_obsolete": "", "replace_id": "" }, "HP:0011420": { "name": [ "age of death", "age of death" ], "alt_id": [], "def": "The age group when the cessation of life happens.", "synonym": [], "xref": [ "UMLS:C1546180" ], "is_a": [ "HP:0040006" ], "is_obsolete": "", "replace_id": "" }, "HP:0011421": { "name": [ "death in adolescence", "death in adolescence" ], "alt_id": [], "def": "Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years).", "synonym": [ [ "death in adolescence", "death in adolescence" ] ], "xref": [ "UMLS:C4023368" ], "is_a": [ "HP:0011420" ], "is_obsolete": "", "replace_id": "" }, "HP:0011422": { "name": [ "abnormal blood chloride concentration", "abnormal blood chloride concentration" ], "alt_id": [], "def": "An abnormality of chloride homeostasis or concentration in the body.", "synonym": [ [ "abnormal blood cl concentration", "abnormal blood cl concentration" ], [ "abnormal blood cl - concentration", "abnormal blood cl - concentration" ], [ "abnormality of chloride homeostasis", "abnormality of chloride homeostasis" ] ], "xref": [ "UMLS:C4023367" ], "is_a": [ "HP:0003111" ], "is_obsolete": "", "replace_id": "" }, "HP:0011423": { "name": [ "hyperchloremia", "hyperchloremia" ], "alt_id": [], "def": "An abnormally increased chloride concentration in the blood.", "synonym": [], "xref": [ "SNOMEDCT_US:74450001", "UMLS:C0085679" ], "is_a": [ "HP:0011422" ], "is_obsolete": "", "replace_id": "" }, "HP:0011424": { "name": [ "increased serum zinc", "increase serum zinc" ], "alt_id": [], "def": "An increased consentration of zinc in the blood.", "synonym": [ [ "hyperzincemia", "hyperzincemia" ] ], "xref": [ "UMLS:C0854520", "UMLS:C0856208" ], "is_a": [ "HP:0008277" ], "is_obsolete": "", "replace_id": "" }, "HP:0011425": { "name": [ "fetal ultrasound soft marker", "fetal ultrasound soft marker" ], "alt_id": [], "def": "An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders.", "synonym": [ [ "foetal ultrasound soft marker", "foetal ultrasound soft marker" ] ], "xref": [ "UMLS:C4023366" ], "is_a": [ "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0011426": { "name": [ "fetal choroid plexus cysts", "fetal choroid plexus cyst" ], "alt_id": [], "def": "Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637).", "synonym": [ [ "foetal choroid plexus cysts", "foetal choroid plexus cyst" ] ], "xref": [ "SNOMEDCT_US:462165005", "UMLS:C3532166" ], "is_a": [ "HP:0011425" ], "is_obsolete": "", "replace_id": "" }, "HP:0011427": { "name": [ "enlarged fetal cisterna magna", "enlarge fetal cisterna magna" ], "alt_id": [], "def": "The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637).", "synonym": [ [ "enlarged foetal cisterna magna", "enlarge foetal cisterna magna" ] ], "xref": [ "UMLS:C4023365" ], "is_a": [ "HP:0011425" ], "is_obsolete": "", "replace_id": "" }, "HP:0011428": { "name": [ "short fetal femur length", "short fetal femur length" ], "alt_id": [], "def": "A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).", "synonym": [ [ "short fetal thigh bone length", "short fetal thigh bone length" ], [ "short foetal femur length", "short foetal femur length" ], [ "short foetal thigh bone length", "short foetal thigh bone length" ] ], "xref": [ "UMLS:C0743924" ], "is_a": [ "HP:0011425" ], "is_obsolete": "", "replace_id": "" }, "HP:0011429": { "name": [ "short fetal humerus length", "short fetal humerus length" ], "alt_id": [], "def": "A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).", "synonym": [ [ "short fetal long bone in upper arm length", "short fetal long bone in upper arm length" ], [ "short foetal humerus length", "short foetal humerus length" ], [ "short foetal long bone in upper arm length", "short foetal long bone in upper arm length" ] ], "xref": [ "UMLS:C4023364" ], "is_a": [ "HP:0011425" ], "is_obsolete": "", "replace_id": "" }, "HP:0011430": { "name": [ "hypoplasia of fetal nasal bone", "hypoplasia of fetal nasal bone" ], "alt_id": [], "def": "On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637).", "synonym": [ [ "hypoplasia of foetal nasal bone", "hypoplasia of foetal nasal bone" ], [ "underdeveloped fetal nose bone", "underdeveloped fetal nose bone" ], [ "underdeveloped foetal nose bone", "underdeveloped foetal nose bone" ] ], "xref": [ "UMLS:C4023363" ], "is_a": [ "HP:0011425" ], "is_obsolete": "", "replace_id": "" }, "HP:0011431": { "name": [ "fetal fifth finger clinodactyly", "fetal fifth finger clinodactyly" ], "alt_id": [], "def": "Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637).", "synonym": [ [ "fetal little finger curvature", "fetal little finger curvature" ], [ "fetal pinkie finger curvature", "fetal pinkie finger curvature" ], [ "fetal pinky finger curvature", "fetal pinky finger curvature" ], [ "foetal fifth finger clinodactyly", "foetal fifth finger clinodactyly" ], [ "foetal little finger curvature", "foetal little finger curvature" ], [ "foetal pinkie finger curvature", "foetal pinkie finger curvature" ], [ "foetal pinky finger curvature", "foetal pinky finger curvature" ] ], "xref": [ "UMLS:C4023362", "UMLS:C4280326" ], "is_a": [ "HP:0011425" ], "is_obsolete": "", "replace_id": "" }, "HP:0011432": { "name": [ "high maternal serum alpha - fetoprotein", "high maternal serum alpha - fetoprotein" ], "alt_id": [], "def": "An abnormally high concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.", "synonym": [], "xref": [ "UMLS:C4023361" ], "is_a": [ "HP:0011436" ], "is_obsolete": "", "replace_id": "" }, "HP:0011433": { "name": [ "high maternal serum chorionic gonadotropin", "high maternal serum chorionic gonadotropin" ], "alt_id": [], "def": "An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.", "synonym": [ [ "high maternal serum hcg", "high maternal serum hcg" ] ], "xref": [ "UMLS:C4021150" ], "is_a": [ "HP:0011436" ], "is_obsolete": "", "replace_id": "" }, "HP:0011434": { "name": [ "low maternal serum chorionic gonadotropin", "low maternal serum chorionic gonadotropin" ], "alt_id": [], "def": "An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.", "synonym": [ [ "low maternal serum hcg", "low maternal serum hcg" ] ], "xref": [ "UMLS:C4021149" ], "is_a": [ "HP:0011436" ], "is_obsolete": "", "replace_id": "" }, "HP:0011435": { "name": [ "low maternal serum papp - a", "low maternal serum papp - a" ], "alt_id": [], "def": "An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age.", "synonym": [], "xref": [ "UMLS:C4023360" ], "is_a": [ "HP:0011436" ], "is_obsolete": "", "replace_id": "" }, "HP:0011436": { "name": [ "abnormal maternal serum screening", "abnormal maternal serum screening" ], "alt_id": [], "def": "An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy.", "synonym": [], "xref": [ "UMLS:C4023359" ], "is_a": [ "HP:0002686" ], "is_obsolete": "", "replace_id": "" }, "HP:0011437": { "name": [ "maternal autoimmune disease", "maternal autoimmune disease" ], "alt_id": [], "def": "A medical history of a fetus or child born to a mother with an autoimmune disease.", "synonym": [], "xref": [ "UMLS:C4023358" ], "is_a": [ "HP:0002686" ], "is_obsolete": "", "replace_id": "" }, "HP:0011438": { "name": [ "maternal teratogenic exposure", "maternal teratogenic exposure" ], "alt_id": [], "def": "A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy.", "synonym": [], "xref": [ "UMLS:C4023357" ], "is_a": [ "HP:0031437" ], "is_obsolete": "", "replace_id": "" }, "HP:0011439": { "name": [ "anesthetic - induced rhabdomylosis", "anesthetic - induced rhabdomylosis" ], "alt_id": [], "def": "Rhabdomyolysis induced by anesthesia.", "synonym": [], "xref": [ "UMLS:C4023356" ], "is_a": [ "HP:0003201" ], "is_obsolete": "", "replace_id": "" }, "HP:0011440": { "name": [ "alcohol - induced rhabdomyolysis", "alcohol - induced rhabdomyolysis" ], "alt_id": [], "def": "Rhabdomyolysis induced by intake of alcohol.", "synonym": [], "xref": [ "UMLS:C4023355" ], "is_a": [ "HP:0003201" ], "is_obsolete": "", "replace_id": "" }, "HP:0011441": { "name": [ "abnormality of the medulla oblongata", "abnormality of the medulla oblongata" ], "alt_id": [], "def": "An abnormality of the medulla oblongata, the lower half of the brainstem.", "synonym": [ [ "abnormality of the myencephalon", "abnormality of the myencephalon" ] ], "xref": [ "UMLS:C4021148" ], "is_a": [ "HP:0002363", "HP:0011282" ], "is_obsolete": "", "replace_id": "" }, "HP:0011442": { "name": [ "abnormal central motor function", "abnormal central motor function" ], "alt_id": [], "def": "An anomaly of the control or production of movement in the central nervous system.", "synonym": [ [ "abnormality of central motor function", "abnormality of central motor function" ] ], "xref": [ "UMLS:C4023354" ], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0011443": { "name": [ "abnormality of coordination", "abnormality of coordination" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of coordination", "abnormality of coordination" ], [ "coordination issue", "coordination issue" ] ], "xref": [ "UMLS:C4023353" ], "is_a": [ "HP:0011442" ], "is_obsolete": "", "replace_id": "" }, "HP:0011444": { "name": [ "decorticate rigidity", "decorticate rigidity" ], "alt_id": [], "def": "A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus.", "synonym": [], "xref": [ "MSH:D003655", "SNOMEDCT_US:36423000", "UMLS:C0231521" ], "is_a": [ "HP:0002063" ], "is_obsolete": "", "replace_id": "" }, "HP:0011445": { "name": [ "athetoid cerebral palsy", "athetoid cerebral palsy" ], "alt_id": [], "def": "A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone.", "synonym": [ [ "dyskinetic cerebral palsy", "dyskinetic cerebral palsy" ] ], "xref": [ "MSH:D002547", "SNOMEDCT_US:230780007", "SNOMEDCT_US:75019001", "UMLS:C0270742" ], "is_a": [ "HP:0002071", "HP:0100021" ], "is_obsolete": "", "replace_id": "" }, "HP:0011446": { "name": [ "abnormality of higher mental function", "abnormality of high mental function" ], "alt_id": [], "def": "Cognitive, psychiatric or memory anomaly.", "synonym": [], "xref": [ "UMLS:C4023352" ], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0011447": { "name": [ "hyposegmentation of neutrophil nuclei", "hyposegmentation of neutrophil nucleus" ], "alt_id": [], "def": "Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.", "synonym": [ [ "hyposegmentation of neutrophil nuclei in peripheral blood", "hyposegmentation of neutrophil nucleus in peripheral blood" ], [ "pelger - huet anomaly", "pelger - huet anomaly" ] ], "xref": [ "MSH:D010381", "SNOMEDCT_US:85559002", "UMLS:C0030779", "UMLS:C4023351" ], "is_a": [ "HP:0011992" ], "is_obsolete": "", "replace_id": "" }, "HP:0011448": { "name": [ "ankle clonus", "ankle clonus" ], "alt_id": [ "HP:0002541" ], "def": "Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.", "synonym": [ [ "abnormal rhythmic movements of ankle", "abnormal rhythmic movement of ankle" ] ], "xref": [ "SNOMEDCT_US:39055007", "UMLS:C0238651" ], "is_a": [ "HP:0002169", "HP:0003028" ], "is_obsolete": "", "replace_id": "" }, "HP:0011449": { "name": [ "knee clonus", "knee clonus" ], "alt_id": [ "HP:0002325" ], "def": "Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.", "synonym": [ [ "patellar clonus", "patellar clonus" ] ], "xref": [ "SNOMEDCT_US:54360005", "UMLS:C0520823" ], "is_a": [ "HP:0002169" ], "is_obsolete": "", "replace_id": "" }, "HP:0011450": { "name": [ "unusual cns infection", "unusual cns infection" ], "alt_id": [], "def": "A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.", "synonym": [ [ "central nervous system infection", "central nervous system infection" ] ], "xref": [ "MSH:D002494", "SNOMEDCT_US:128117002", "UMLS:C0007684" ], "is_a": [ "HP:0002011", "HP:0032158" ], "is_obsolete": "", "replace_id": "" }, "HP:0011451": { "name": [ "primary microcephaly", "primary microcephaly" ], "alt_id": [], "def": "Head circumference below 2 standard deviations below the mean for age and gender at birth.", "synonym": [ [ "congenital decreased head circumference", "congenital decrease head circumference" ], [ "congenital microcephaly", "congenital microcephaly" ], [ "congenital small head", "congenital small head" ], [ "congenital small head circumference", "congenital small head circumference" ], [ "congenital small skull", "congenital small skull" ], [ "decreased head circumference present at birth", "decrease head circumference present at birth" ], [ "head circumference small for gestational age", "head circumference small for gestational age" ], [ "microcephaly present at birth", "microcephaly present at birth" ], [ "small cranium present at birth", "small cranium present at birth" ], [ "small head circumference present at birth", "small head circumference present at birth" ], [ "small head present at birth", "small head present at birth" ], [ "small skull present at birth", "small skull present at birth" ] ], "xref": [ "UMLS:C2677180", "UMLS:C4020749" ], "is_a": [ "HP:0000252" ], "is_obsolete": "", "replace_id": "" }, "HP:0011452": { "name": [ "functional abnormality of the middle ear", "functional abnormality of the middle ear" ], "alt_id": [], "def": "An abnormality of the function of the middle ear.", "synonym": [ [ "functional abnormality of the middle ear", "functional abnormality of the middle ear" ] ], "xref": [ "UMLS:C4021846" ], "is_a": [ "HP:0000370" ], "is_obsolete": "", "replace_id": "" }, "HP:0011453": { "name": [ "abnormality of the incus", "abnormality of the incus" ], "alt_id": [], "def": "An abnormality of the incus, an ossicle in the middle ear.", "synonym": [], "xref": [ "UMLS:C4023350" ], "is_a": [ "HP:0004452" ], "is_obsolete": "", "replace_id": "" }, "HP:0011454": { "name": [ "abnormality of the malleus", "abnormality of the malleus" ], "alt_id": [], "def": "An abnormality of the malleus, an ossicle in the middle ear.", "synonym": [], "xref": [ "UMLS:C4023349" ], "is_a": [ "HP:0004452" ], "is_obsolete": "", "replace_id": "" }, "HP:0011455": { "name": [ "absent malleus", "absent malleus" ], "alt_id": [], "def": "Aplasia of the malleus.", "synonym": [], "xref": [ "SNOMEDCT_US:300169003", "UMLS:C0576900" ], "is_a": [ "HP:0011454" ], "is_obsolete": "", "replace_id": "" }, "HP:0011456": { "name": [ "absent stapes", "absent stapes" ], "alt_id": [], "def": "Aplasia of the stapes.", "synonym": [], "xref": [ "SNOMEDCT_US:300178009", "UMLS:C0576909" ], "is_a": [ "HP:0008628" ], "is_obsolete": "", "replace_id": "" }, "HP:0011457": { "name": [ "loss of eyelashes", "loss of eyelash" ], "alt_id": [], "def": "This term refers to the loss of eyelashes that were previously present.", "synonym": [ [ "ciliary madarosis", "ciliary madarosis" ], [ "eyelashes fell out", "eyelash fell out" ], [ "loss of eyelashes", "loss of eyelash" ], [ "milphosis", "milphosis" ], [ "missing eyelashes", "miss eyelash" ] ], "xref": [ "SNOMEDCT_US:34887006", "UMLS:C0271321" ], "is_a": [ "HP:0000499" ], "is_obsolete": "", "replace_id": "" }, "HP:0011458": { "name": [ "abdominal symptom", "abdominal symptom" ], "alt_id": [], "def": "A subjective manifestation of disease localized to the abdomen.", "synonym": [], "xref": [ "UMLS:C0740651" ], "is_a": [ "HP:0025032" ], "is_obsolete": "", "replace_id": "" }, "HP:0011459": { "name": [ "esophageal carcinoma", "esophageal carcinoma" ], "alt_id": [], "def": "The presence of a carcinoma of the esophagus.", "synonym": [], "xref": [ "SNOMEDCT_US:372138000", "UMLS:C0152018" ], "is_a": [ "HP:0100751" ], "is_obsolete": "", "replace_id": "" }, "HP:0011460": { "name": [ "embryonal onset", "embryonal onset" ], "alt_id": [], "def": "Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation).", "synonym": [], "xref": [ "UMLS:C4023348" ], "is_a": [ "HP:0030674" ], "is_obsolete": "", "replace_id": "" }, "HP:0011461": { "name": [ "fetal onset", "fetal onset" ], "alt_id": [], "def": "Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks).", "synonym": [ [ "foetal onset", "foetal onset" ] ], "xref": [ "UMLS:C4023347" ], "is_a": [ "HP:0030674" ], "is_obsolete": "", "replace_id": "" }, "HP:0011462": { "name": [ "young adult onset", "young adult onset" ], "alt_id": [], "def": "Onset of disease at the age of between 16 and 40 years.", "synonym": [], "xref": [ "UMLS:C3554568" ], "is_a": [ "HP:0003581" ], "is_obsolete": "", "replace_id": "" }, "HP:0011463": { "name": [ "childhood onset", "childhood onset" ], "alt_id": [ "HP:0003586", "HP:0003617" ], "def": "Onset of disease at the age of between 1 and 5 years.", "synonym": [ [ "symptoms begin in childhood", "symptom begin in childhood" ] ], "xref": [ "UMLS:C1837352" ], "is_a": [ "HP:0410280" ], "is_obsolete": "", "replace_id": "" }, "HP:0011464": { "name": [ "aganglionosis of the small intestine", "aganglionosis of the small intestine" ], "alt_id": [], "def": "A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine.", "synonym": [], "xref": [ "UMLS:C4023346" ], "is_a": [ "HP:0004362" ], "is_obsolete": "", "replace_id": "" }, "HP:0011465": { "name": [ "duodenal aganglionosis", "duodenal aganglionosis" ], "alt_id": [], "def": "A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum.", "synonym": [], "xref": [ "UMLS:C4023345" ], "is_a": [ "HP:0011464" ], "is_obsolete": "", "replace_id": "" }, "HP:0011466": { "name": [ "aplasia / hypoplasia of the gallbladder", "aplasia / hypoplasia of the gallbladder" ], "alt_id": [], "def": "Absence or underdevelopment of the gallbladder.", "synonym": [ [ "absent / small gallbladder", "absent / small gallbladder" ], [ "absent / underdeveloped gallbladder", "absent / underdevelop gallbladder" ] ], "xref": [ "UMLS:C4023344" ], "is_a": [ "HP:0012437" ], "is_obsolete": "", "replace_id": "" }, "HP:0011467": { "name": [ "absent gallbladder", "absent gallbladder" ], "alt_id": [], "def": "A developmental defect in which the gallbladder fails to form.", "synonym": [ [ "absent gallbladder", "absent gallbladder" ], [ "agenesis of the gallbladder", "agenesis of the gallbladder" ], [ "aplasia of the gallbladder", "aplasia of the gallbladder" ] ], "xref": [ "MSH:C562564", "SNOMEDCT_US:86507001", "UMLS:C0266251" ], "is_a": [ "HP:0011466" ], "is_obsolete": "", "replace_id": "" }, "HP:0011468": { "name": [ "facial tics", "facial tic" ], "alt_id": [], "def": "Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.", "synonym": [ [ "cramping of facial muscles", "cramping of facial muscle" ], [ "facial spasms", "facial spasm" ], [ "facial tics", "facial tic" ], [ "involuntary facial muscle spasms", "involuntary facial muscle spasm" ], [ "jerking of facial muscles", "jerking of facial muscle" ], [ "mimic spasms", "mimic spasm" ], [ "muscle spasm of face", "muscle spasm of face" ], [ "myoclonus of facial muscles", "myoclonus of facial muscle" ], [ "spasms of facial muscles", "spasm of facial muscle" ], [ "twitching of facial muscles", "twitching of facial muscle" ] ], "xref": [ "SNOMEDCT_US:230335009", "SNOMEDCT_US:32402008", "UMLS:C0278151", "UMLS:C0338467", "UMLS:C0858722", "UMLS:C4280324", "UMLS:C4280325" ], "is_a": [ "HP:0005324" ], "is_obsolete": "", "replace_id": "" }, "HP:0011469": { "name": [ "nasal regurgitation", "nasal regurgitation" ], "alt_id": [], "def": "Regurgitation of milk through the nose.", "synonym": [], "xref": [ "SNOMEDCT_US:85023004", "UMLS:C0232608" ], "is_a": [ "HP:0008872" ], "is_obsolete": "", "replace_id": "" }, "HP:0011470": { "name": [ "nasogastric tube feeding in infancy", "nasogastric tube feeding in infancy" ], "alt_id": [], "def": "Feeding problem necessitating nasogastric tube feeding.", "synonym": [], "xref": [ "UMLS:C4023343" ], "is_a": [ "HP:0008872", "HP:0033454" ], "is_obsolete": "", "replace_id": "" }, "HP:0011471": { "name": [ "gastrostomy tube feeding in infancy", "gastrostomy tube feeding in infancy" ], "alt_id": [], "def": "Feeding problem necessitating gastrostomy tube feeding.", "synonym": [ [ "peg - fed in infancy", "peg - feed in infancy" ] ], "xref": [ "UMLS:C4020748", "UMLS:C4023342" ], "is_a": [ "HP:0008872", "HP:0033454" ], "is_obsolete": "", "replace_id": "" }, "HP:0011472": { "name": [ "abnormality of small intestinal villus morphology", "abnormality of small intestinal villus morphology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal shape of small intestinal villus", "abnormal shape of small intestinal villus" ] ], "xref": [ "UMLS:C4023341" ], "is_a": [ "HP:0002244" ], "is_obsolete": "", "replace_id": "" }, "HP:0011473": { "name": [ "villous atrophy", "villous atrophy" ], "alt_id": [], "def": "The enteric villi are atrophic or absent.", "synonym": [ [ "atrophy of small intestinal villi", "atrophy of small intestinal villus" ], [ "biopsy shows villous atrophy", "biopsy show villous atrophy" ], [ "duodenal villous atrophy", "duodenal villous atrophy" ], [ "small intestine biopsy shows villous atrophy", "small intestine biopsy show villous atrophy" ], [ "variable degree of villous atrophy", "variable degree of villous atrophy" ], [ "villous degeneration", "villous degeneration" ] ], "xref": [ "SNOMEDCT_US:275403002", "SNOMEDCT_US:75581001", "UMLS:C0267456", "UMLS:C0554101", "UMLS:C1833058", "UMLS:C1859541", "UMLS:C2677378", "UMLS:C4020747" ], "is_a": [ "HP:0011472" ], "is_obsolete": "", "replace_id": "" }, "HP:0011474": { "name": [ "childhood onset sensorineural hearing impairment", "childhood onset sensorineural hearing impairment" ], "alt_id": [], "def": "Sensorineural hearing impairment with childhood onset.", "synonym": [], "xref": [ "UMLS:C4023340" ], "is_a": [ "HP:0000407" ], "is_obsolete": "", "replace_id": "" }, "HP:0011475": { "name": [ "persistent stapedial artery", "persistent stapedial artery" ], "alt_id": [], "def": "Persistence of the stapedial artery, which normally regresses during embryonic life.", "synonym": [], "xref": [ "UMLS:C4023339" ], "is_a": [ "HP:0008609" ], "is_obsolete": "", "replace_id": "" }, "HP:0011476": { "name": [ "profound sensorineural hearing impairment", "profound sensorineural hearing impairment" ], "alt_id": [], "def": "Complete loss of hearing related to a sensorineural defect.", "synonym": [], "xref": [ "UMLS:C4023338" ], "is_a": [ "HP:0000407", "HP:0012715" ], "is_obsolete": "", "replace_id": "" }, "HP:0011477": { "name": [ "upbeat nystagmus", "upbeat nystagmus" ], "alt_id": [], "def": "In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient.", "synonym": [], "xref": [ "SNOMEDCT_US:307677002", "UMLS:C0585545" ], "is_a": [ "HP:0010544" ], "is_obsolete": "", "replace_id": "" }, "HP:0011478": { "name": [ "true anophthalmia", "true anophthalmia" ], "alt_id": [], "def": "Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination.", "synonym": [ [ "complete anophthalmia", "complete anophthalmia" ], [ "completely missing eyeball", "completely miss eyeball" ], [ "total anophthalmia", "total anophthalmia" ] ], "xref": [ "UMLS:C2675590" ], "is_a": [ "HP:0000528" ], "is_obsolete": "", "replace_id": "" }, "HP:0011479": { "name": [ "abnormal lacrimal punctum morphology", "abnormal lacrimal punctum morphology" ], "alt_id": [], "def": "An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid.", "synonym": [ [ "abnormality of the lacrimal punctum", "abnormality of the lacrimal punctum" ] ], "xref": [ "UMLS:C4023337" ], "is_a": [ "HP:0000614" ], "is_obsolete": "", "replace_id": "" }, "HP:0011480": { "name": [ "unilateral microphthalmos", "unilateral microphthalmos" ], "alt_id": [], "def": "A developmental anomaly characterized by abnormal smallness of one eye.", "synonym": [ [ "abnormally small eyeball on one side", "abnormally small eyeball on one side" ], [ "unilateral nanophthalmos", "unilateral nanophthalmos" ] ], "xref": [ "UMLS:C3640024", "UMLS:C4280323" ], "is_a": [ "HP:0000568" ], "is_obsolete": "", "replace_id": "" }, "HP:0011481": { "name": [ "abnormal lacrimal duct morphology", "abnormal lacrimal duct morphology" ], "alt_id": [], "def": "An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.", "synonym": [ [ "abnormality of the lacrimal canaliculus", "abnormality of the lacrimal canaliculus" ], [ "abnormality of the lacrimal duct", "abnormality of the lacrimal duct" ] ], "xref": [ "UMLS:C1858567" ], "is_a": [ "HP:0000614" ], "is_obsolete": "", "replace_id": "" }, "HP:0011482": { "name": [ "abnormal lacrimal gland morphology", "abnormal lacrimal gland morphology" ], "alt_id": [], "def": "Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.", "synonym": [ [ "abnormality of the lacrimal gland", "abnormality of the lacrimal gland" ] ], "xref": [ "UMLS:C4023336" ], "is_a": [ "HP:0000614" ], "is_obsolete": "", "replace_id": "" }, "HP:0011483": { "name": [ "anterior synechiae of the anterior chamber", "anterior synechiae of the anterior chamber" ], "alt_id": [], "def": "Adhesions between the iris and the cornea.", "synonym": [ [ "anterior synechiae", "anterior synechiae" ], [ "cornea - iris adhesion", "cornea - iris adhesion" ], [ "iridocorneal synechia", "iridocorneal synechia" ] ], "xref": [ "SNOMEDCT_US:70992005", "UMLS:C0152252" ], "is_a": [ "HP:0007833" ], "is_obsolete": "", "replace_id": "" }, "HP:0011484": { "name": [ "posterior synechiae of the anterior chamber", "posterior synechiae of the anterior chamber" ], "alt_id": [], "def": "Adhesions between the iris and the lens.", "synonym": [ [ "iridolenticular adhesions", "iridolenticular adhesion" ], [ "posterior synechiae", "posterior synechiae" ] ], "xref": [ "SNOMEDCT_US:111512005", "UMLS:C0152253" ], "is_a": [ "HP:0007833" ], "is_obsolete": "", "replace_id": "" }, "HP:0011485": { "name": [ "corneolenticular adhesion", "corneolenticular adhesion" ], "alt_id": [], "def": "Developmental abnormality in which the lens and cornea are not separated.", "synonym": [], "xref": [ "UMLS:C4023334" ], "is_a": [ "HP:0000593" ], "is_obsolete": "", "replace_id": "" }, "HP:0011486": { "name": [ "abnormality of corneal thickness", "abnormality of corneal thickness" ], "alt_id": [], "def": "An abnormal anteroposterior thickness of the cornea.", "synonym": [], "xref": [ "UMLS:C4023333" ], "is_a": [ "HP:0000481" ], "is_obsolete": "", "replace_id": "" }, "HP:0011487": { "name": [ "increased corneal thickness", "increase corneal thickness" ], "alt_id": [], "def": "A increased anteroposterior thickness of the cornea.", "synonym": [], "xref": [ "UMLS:C3810451" ], "is_a": [ "HP:0011486" ], "is_obsolete": "", "replace_id": "" }, "HP:0011488": { "name": [ "abnormal corneal endothelium morphology", "abnormal corneal endothelium morphology" ], "alt_id": [], "def": "Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.", "synonym": [ [ "abnormality of corneal endothelium", "abnormality of corneal endothelium" ] ], "xref": [ "UMLS:C4023332" ], "is_a": [ "HP:0000481" ], "is_obsolete": "", "replace_id": "" }, "HP:0011489": { "name": [ "abnormal migration of corneal endothelium", "abnormal migration of corneal endothelium" ], "alt_id": [], "def": "Abnormal migration of corneal endothelium.", "synonym": [], "xref": [ "UMLS:C4023331" ], "is_a": [ "HP:0011488" ], "is_obsolete": "", "replace_id": "" }, "HP:0011490": { "name": [ "abnormal descemet membrane morphology", "abnormal descemet membrane morphology" ], "alt_id": [], "def": "Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.", "synonym": [ [ "abnormality of descemet 's membrane", "abnormality of descemet 's membrane" ] ], "xref": [ "UMLS:C4023330" ], "is_a": [ "HP:0011488" ], "is_obsolete": "", "replace_id": "" }, "HP:0011491": { "name": [ "reduced number of corneal endothelial cells", "reduced number of corneal endothelial cell" ], "alt_id": [], "def": "A reduction in the number of corneal endothelial cells.", "synonym": [], "xref": [ "UMLS:C4023329" ], "is_a": [ "HP:0011488" ], "is_obsolete": "", "replace_id": "" }, "HP:0011492": { "name": [ "abnormality of corneal stroma", "abnormality of corneal stroma" ], "alt_id": [], "def": "An abnormality of the stroma of cornea, also known as the substantia propria of cornea.", "synonym": [], "xref": [ "UMLS:C4023328" ], "is_a": [ "HP:0000481" ], "is_obsolete": "", "replace_id": "" }, "HP:0011493": { "name": [ "central opacification of the cornea", "central opacification of the cornea" ], "alt_id": [], "def": "Reduced transparency of the central portion of the corneal stroma.", "synonym": [], "xref": [ "UMLS:C4023327" ], "is_a": [ "HP:0007759" ], "is_obsolete": "", "replace_id": "" }, "HP:0011494": { "name": [ "generalized opacification of the cornea", "generalize opacification of the cornea" ], "alt_id": [], "def": "Generalized reduced transparency of the stroma of the cornea.", "synonym": [ [ "generalised opacification of the cornea", "generalised opacification of the cornea" ] ], "xref": [ "UMLS:C4021147" ], "is_a": [ "HP:0007759" ], "is_obsolete": "", "replace_id": "" }, "HP:0011495": { "name": [ "abnormal corneal epithelium morphology", "abnormal corneal epithelium morphology" ], "alt_id": [], "def": "Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.", "synonym": [ [ "abnormality of corneal epithelium", "abnormality of corneal epithelium" ] ], "xref": [ "UMLS:C4023326" ], "is_a": [ "HP:0000481" ], "is_obsolete": "", "replace_id": "" }, "HP:0011496": { "name": [ "corneal neovascularization", "corneal neovascularization" ], "alt_id": [], "def": "Ingrowth of new blood vessels into the cornea.", "synonym": [ [ "corneal neovascularisation", "corneal neovascularisation" ], [ "corneal pannus", "corneal pannus" ], [ "corneal vascularization", "corneal vascularization" ], [ "limbal neovascularization", "limbal neovascularization" ], [ "new blood vessel formation in cornea", "new blood vessel formation in cornea" ] ], "xref": [ "MSH:D016510", "SNOMEDCT_US:19161004", "UMLS:C0085109" ], "is_a": [ "HP:0000481" ], "is_obsolete": "", "replace_id": "" }, "HP:0011497": { "name": [ "iris neovascularization", "iris neovascularization" ], "alt_id": [], "def": "New growth of vessels on the surface of the iris.", "synonym": [ [ "neovascularization of the iris", "neovascularization of the iris" ], [ "new blood vessel formation in iris", "new blood vessel formation in iris" ] ], "xref": [ "SNOMEDCT_US:51995000", "UMLS:C0154916" ], "is_a": [ "HP:0007905" ], "is_obsolete": "", "replace_id": "" }, "HP:0011498": { "name": [ "obsolete partial aniridia", "obsolete partial aniridia" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000526" }, "HP:0011499": { "name": [ "mydriasis", "mydriasis" ], "alt_id": [], "def": "Abnormal dilatation of the iris.", "synonym": [ [ "dilated pupil", "dilate pupil" ] ], "xref": [ "MSH:D015878", "SNOMEDCT_US:37125009", "UMLS:C0026961" ], "is_a": [ "HP:0007686" ], "is_obsolete": "", "replace_id": "" }, "HP:0011500": { "name": [ "polycoria", "polycoria" ], "alt_id": [], "def": "Multiple pupils.", "synonym": [ [ "multiple pupils", "multiple pupil" ] ], "xref": [ "SNOMEDCT_US:204159004", "UMLS:C0344544" ], "is_a": [ "HP:0000615" ], "is_obsolete": "", "replace_id": "" }, "HP:0011501": { "name": [ "anterior lenticonus", "anterior lenticonus" ], "alt_id": [], "def": "A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.", "synonym": [], "xref": [ "SNOMEDCT_US:95480008", "UMLS:C0344262" ], "is_a": [ "HP:0001142" ], "is_obsolete": "", "replace_id": "" }, "HP:0011502": { "name": [ "posterior lenticonus", "posterior lenticonus" ], "alt_id": [], "def": "A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.", "synonym": [], "xref": [ "SNOMEDCT_US:95482000", "UMLS:C0344263" ], "is_a": [ "HP:0001142" ], "is_obsolete": "", "replace_id": "" }, "HP:0011503": { "name": [ "aplasia of the fovea", "aplasia of the fovea" ], "alt_id": [], "def": "Congenital absence of the fovea.", "synonym": [ [ "absent fovea", "absent fovea" ] ], "xref": [ "UMLS:C4023324" ], "is_a": [ "HP:0008060" ], "is_obsolete": "", "replace_id": "" }, "HP:0011504": { "name": [ "bull 's eye maculopathy", "bull 's eye maculopathy" ], "alt_id": [], "def": "Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.", "synonym": [ [ "chloroquine retinopathy", "chloroquine retinopathy" ] ], "xref": [ "MSH:C537833", "SNOMEDCT_US:312958000", "SNOMEDCT_US:424169002", "UMLS:C0730330", "UMLS:C1828210" ], "is_a": [ "HP:0008002" ], "is_obsolete": "", "replace_id": "" }, "HP:0011505": { "name": [ "cystoid macular edema", "cystoid macular edema" ], "alt_id": [], "def": "Cystoid macular edema (CME) is any type of macular edema that involves cyst formation.", "synonym": [ [ "cystoid macular oedema", "cystoid macular oedema" ] ], "xref": [ "MSH:D008269", "SNOMEDCT_US:193387007", "UMLS:C0024440" ], "is_a": [ "HP:0040049" ], "is_obsolete": "", "replace_id": "" }, "HP:0011506": { "name": [ "choroidal neovascularization", "choroidal neovascularization" ], "alt_id": [], "def": "Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.", "synonym": [], "xref": [ "UMLS:C4023323" ], "is_a": [ "HP:0001103", "HP:0025568" ], "is_obsolete": "", "replace_id": "" }, "HP:0011507": { "name": [ "macular flecks", "macular fleck" ], "alt_id": [], "def": "Pale often indistinct lesions of the macula.", "synonym": [], "xref": [ "UMLS:C4023322" ], "is_a": [ "HP:0030500" ], "is_obsolete": "", "replace_id": "" }, "HP:0011508": { "name": [ "macular hole", "macular hole" ], "alt_id": [], "def": "A macular hole is a small break in the macula, located in the center of the retina.", "synonym": [], "xref": [ "MSH:D012167", "SNOMEDCT_US:232006002", "UMLS:C0024441" ], "is_a": [ "HP:0001103", "HP:0011958" ], "is_obsolete": "", "replace_id": "" }, "HP:0011509": { "name": [ "macular hyperpigmentation", "macular hyperpigmentation" ], "alt_id": [], "def": "Increased amount of pigmentation in the macula lutea.", "synonym": [], "xref": [ "UMLS:C0745109" ], "is_a": [ "HP:0008002" ], "is_obsolete": "", "replace_id": "" }, "HP:0011510": { "name": [ "drusen", "drusen" ], "alt_id": [], "def": "Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.", "synonym": [], "xref": [ "SNOMEDCT_US:18695008", "UMLS:C1260959" ], "is_a": [ "HP:0030506" ], "is_obsolete": "", "replace_id": "" }, "HP:0011511": { "name": [ "macular schisis", "macular schisis" ], "alt_id": [], "def": "Splitting of the retina in the macular region.", "synonym": [], "xref": [ "UMLS:C4023321" ], "is_a": [ "HP:0030498" ], "is_obsolete": "", "replace_id": "" }, "HP:0011512": { "name": [ "hyperpigmentation of the fundus", "hyperpigmentation of the fundus" ], "alt_id": [], "def": "Increased pigmentation of the fundus", "synonym": [ [ "hyperpigmented fundi", "hyperpigmented fundus" ], [ "hyperpigmented fundus", "hyperpigmented fundus" ] ], "xref": [ "UMLS:C4021146" ], "is_a": [ "HP:0031605" ], "is_obsolete": "", "replace_id": "" }, "HP:0011513": { "name": [ "retinal cavernous angioma", "retinal cavernous angioma" ], "alt_id": [], "def": "A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance.", "synonym": [], "xref": [ "SNOMEDCT_US:312937006", "UMLS:C0730304" ], "is_a": [ "HP:0007797" ], "is_obsolete": "", "replace_id": "" }, "HP:0011514": { "name": [ "abnormality of binocular vision", "abnormality of binocular vision" ], "alt_id": [], "def": "An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.", "synonym": [], "xref": [ "UMLS:C4023320" ], "is_a": [ "HP:0000504" ], "is_obsolete": "", "replace_id": "" }, "HP:0011515": { "name": [ "abnormal stereopsis", "abnormal stereopsis" ], "alt_id": [], "def": "Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head.", "synonym": [], "xref": [ "UMLS:C4023319" ], "is_a": [ "HP:0011514" ], "is_obsolete": "", "replace_id": "" }, "HP:0011516": { "name": [ "achromatopsia", "achromatopsia" ], "alt_id": [], "def": "A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult.", "synonym": [ [ "rod monochromacy", "rod monochromacy" ], [ "rod monochromatism", "rod monochromatism" ] ], "xref": [ "MSH:C536021", "SNOMEDCT_US:102450007", "UMLS:C0302129" ], "is_a": [ "HP:0007803" ], "is_obsolete": "", "replace_id": "" }, "HP:0011517": { "name": [ "cone monochromacy", "cone monochromacy" ], "alt_id": [], "def": "The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors.", "synonym": [], "xref": [ "UMLS:C4023318" ], "is_a": [ "HP:0007803" ], "is_obsolete": "", "replace_id": "" }, "HP:0011518": { "name": [ "dichromacy", "dichromacy" ], "alt_id": [], "def": "Individuals affected by dichromacy possess only two types of cones, instead of three.", "synonym": [], "xref": [ "UMLS:C4023317" ], "is_a": [ "HP:0007641" ], "is_obsolete": "", "replace_id": "" }, "HP:0011519": { "name": [ "anomalous trichromacy", "anomalous trichromacy" ], "alt_id": [], "def": "Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones.", "synonym": [], "xref": [ "UMLS:C4023316" ], "is_a": [ "HP:0007641" ], "is_obsolete": "", "replace_id": "" }, "HP:0011520": { "name": [ "deuteranomaly", "deuteranomaly" ], "alt_id": [], "def": "A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green.", "synonym": [ [ "deuteranomoly", "deuteranomoly" ], [ "green - weak", "green - weak" ] ], "xref": [ "MSH:D003117", "SNOMEDCT_US:246674000", "SNOMEDCT_US:77479002", "UMLS:C0155016" ], "is_a": [ "HP:0000642", "HP:0011519" ], "is_obsolete": "", "replace_id": "" }, "HP:0011521": { "name": [ "deuteranopia", "deuteranopia" ], "alt_id": [], "def": "Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green.", "synonym": [ [ "green - blind", "green - blind" ] ], "xref": [ "MSH:D003117", "SNOMEDCT_US:246674000", "SNOMEDCT_US:77479002", "UMLS:C0155016" ], "is_a": [ "HP:0000642", "HP:0011518" ], "is_obsolete": "", "replace_id": "" }, "HP:0011522": { "name": [ "protanopia", "protanopia" ], "alt_id": [], "def": "Blue and green cones only; no functional red cones.", "synonym": [ [ "red - blind", "red - blind" ] ], "xref": [ "MSH:D003117", "SNOMEDCT_US:51445007", "UMLS:C0155015" ], "is_a": [ "HP:0000642", "HP:0011518" ], "is_obsolete": "", "replace_id": "" }, "HP:0011523": { "name": [ "iris cyst", "iris cyst" ], "alt_id": [], "def": "An iris cyst is composed of a single cell layer of epithelium and is filled with fluid.", "synonym": [], "xref": [ "SNOMEDCT_US:37761009", "UMLS:C0271119" ], "is_a": [ "HP:0000525" ], "is_obsolete": "", "replace_id": "" }, "HP:0011524": { "name": [ "iris melanoma", "iris melanoma" ], "alt_id": [], "def": "Malignant tumor of melanocytes affecting the iris.", "synonym": [], "xref": [ "NCIT:C3224", "SNOMEDCT_US:255012009", "UMLS:C0346373" ], "is_a": [ "HP:0000525", "HP:0007716" ], "is_obsolete": "", "replace_id": "" }, "HP:0011525": { "name": [ "iris nevus", "iris nevus" ], "alt_id": [], "def": "A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated.", "synonym": [ [ "eye freckle", "eye freckle" ] ], "xref": [ "SNOMEDCT_US:95711003", "UMLS:C0346376" ], "is_a": [ "HP:0000525" ], "is_obsolete": "", "replace_id": "" }, "HP:0011526": { "name": [ "abnormality of lens shape", "abnormality of lens shape" ], "alt_id": [], "def": "An abnormal shape of the lens.", "synonym": [ [ "abnormality of lens shape", "abnormality of lens shape" ] ], "xref": [ "UMLS:C4023314" ], "is_a": [ "HP:0000517" ], "is_obsolete": "", "replace_id": "" }, "HP:0011527": { "name": [ "lentiglobus", "lentiglobus" ], "alt_id": [], "def": "Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging.", "synonym": [ [ "bulging of eye lens", "bulging of eye lens" ] ], "xref": [ "SNOMEDCT_US:419281007", "UMLS:C1622439", "UMLS:C4280322" ], "is_a": [ "HP:0011526" ], "is_obsolete": "", "replace_id": "" }, "HP:0011528": { "name": [ "solitary congenital hypertrophy of retinal pigment epithelium", "solitary congenital hypertrophy of retinal pigment epithelium" ], "alt_id": [], "def": "Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance.", "synonym": [ [ "single isolated chrpe", "single isolate chrpe" ], [ "single isolated congenital hypertrophy of retinal pigment epithelium", "single isolate congenital hypertrophy of retinal pigment epithelium" ] ], "xref": [ "UMLS:C4021145" ], "is_a": [ "HP:0007649" ], "is_obsolete": "", "replace_id": "" }, "HP:0011529": { "name": [ "multiple bilateral congenital hypertrophy of retinal pigment epithelium", "multiple bilateral congenital hypertrophy of retinal pigment epithelium" ], "alt_id": [], "def": "Sharply demarcated hyperpigmentation which is congenital.", "synonym": [ [ "multiple bilateral chrpe", "multiple bilateral chrpe" ] ], "xref": [ "UMLS:C4021144" ], "is_a": [ "HP:0007649" ], "is_obsolete": "", "replace_id": "" }, "HP:0011530": { "name": [ "retinal hole", "retinal hole" ], "alt_id": [], "def": "A small break in the retina.", "synonym": [ [ "retinal holes", "retinal hole" ] ], "xref": [ "MSH:D012167", "SNOMEDCT_US:232003005", "SNOMEDCT_US:302888003", "SNOMEDCT_US:40024006", "SNOMEDCT_US:95690009", "UMLS:C0035321" ], "is_a": [ "HP:0011958" ], "is_obsolete": "", "replace_id": "" }, "HP:0011531": { "name": [ "vitritis", "vitritis" ], "alt_id": [], "def": "Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.", "synonym": [ [ "hyalitis", "hyalitis" ], [ "vitreitis", "vitreitis" ] ], "xref": [ "SNOMEDCT_US:95802009", "UMLS:C0235812" ], "is_a": [ "HP:0004327" ], "is_obsolete": "", "replace_id": "" }, "HP:0011532": { "name": [ "subretinal exudate", "subretinal exudate" ], "alt_id": [], "def": "A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium.", "synonym": [], "xref": [ "SNOMEDCT_US:247156002", "UMLS:C0423431" ], "is_a": [ "HP:0001147" ], "is_obsolete": "", "replace_id": "" }, "HP:0011533": { "name": [ "snowflake vitreoretinal degeneration", "snowflake vitreoretinal degeneration" ], "alt_id": [], "def": "The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous.", "synonym": [ [ "snowflake retinal degeneration", "snowflake retinal degeneration" ] ], "xref": [ "MSH:C536677", "UMLS:C1860405" ], "is_a": [ "HP:0007769", "HP:0007773" ], "is_obsolete": "", "replace_id": "" }, "HP:0011534": { "name": [ "abnormal spatial orientation of the cardiac segments", "abnormal spatial orientation of the cardiac segment" ], "alt_id": [], "def": "Abnormality of the spatial relationship of the cardiac segments to other components of the heart.", "synonym": [], "xref": [ "UMLS:C4023313" ], "is_a": [ "HP:0001627" ], "is_obsolete": "", "replace_id": "" }, "HP:0011535": { "name": [ "abnormal atrial arrangement", "abnormal atrial arrangement" ], "alt_id": [], "def": "Abnormality of the spatial relationship of the atria to other components of the heart.", "synonym": [ [ "abnormal location of heart atrium", "abnormal location of heart atrium" ] ], "xref": [ "SNOMEDCT_US:445898001", "UMLS:C2959688" ], "is_a": [ "HP:0005120", "HP:0011534" ], "is_obsolete": "", "replace_id": "" }, "HP:0011536": { "name": [ "right atrial isomerism", "right atrial isomerism" ], "alt_id": [], "def": "Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.", "synonym": [], "xref": [ "MSH:D059446", "UMLS:C3178806" ], "is_a": [ "HP:0011535", "HP:0031855" ], "is_obsolete": "", "replace_id": "" }, "HP:0011537": { "name": [ "left atrial isomerism", "leave atrial isomerism" ], "alt_id": [], "def": "In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest.", "synonym": [], "xref": [ "EPCC:03.01.05", "ICD-10:Q20.6", "MSH:D059446", "UMLS:C3178807" ], "is_a": [ "HP:0011535", "HP:0031854" ], "is_obsolete": "", "replace_id": "" }, "HP:0011538": { "name": [ "atrial situs inversus", "atrial situs inversus" ], "alt_id": [], "def": "Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.", "synonym": [], "xref": [ "EPCC:03.01.03", "Fyler:0150", "Fyler:150", "ICD-10:Q89.3", "UMLS:C4023312" ], "is_a": [ "HP:0011535" ], "is_obsolete": "", "replace_id": "" }, "HP:0011539": { "name": [ "atrial situs ambiguous", "atrial situs ambiguous" ], "alt_id": [], "def": "Common atrium without defining morphologic features.", "synonym": [ [ "atrial heterotaxy", "atrial heterotaxy" ], [ "atrial situs ambiguus", "atrial situs ambiguus" ] ], "xref": [ "SNOMEDCT_US:448681000", "UMLS:C3164429" ], "is_a": [ "HP:0011535" ], "is_obsolete": "", "replace_id": "" }, "HP:0011540": { "name": [ "congenitally corrected transposition of the great arteries", "congenitally correct transposition of the great artery" ], "alt_id": [], "def": "The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta.", "synonym": [ [ "l - transposition", "l - transposition" ], [ "ventricular inversion", "ventricular inversion" ] ], "xref": [ "EPCC:01.01.03", "ICD-10:Q20.5", "MSH:C535426", "SNOMEDCT_US:56743000", "SNOMEDCT_US:83799000", "UMLS:C0232301", "UMLS:C0344616" ], "is_a": [ "HP:0011534", "HP:0011603" ], "is_obsolete": "", "replace_id": "" }, "HP:0011541": { "name": [ "criss - cross atrioventricular valves", "criss - cross atrioventricular valve" ], "alt_id": [], "def": "Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis.", "synonym": [], "xref": [ "UMLS:C4023310" ], "is_a": [ "HP:0011534" ], "is_obsolete": "", "replace_id": "" }, "HP:0011542": { "name": [ "criss - cross atrioventricular valves with superior - inferior ventricles", "criss - cross atrioventricular valve with superior - inferior ventricle" ], "alt_id": [], "def": "Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side.", "synonym": [], "xref": [ "UMLS:C4023309" ], "is_a": [ "HP:0011541" ], "is_obsolete": "", "replace_id": "" }, "HP:0011543": { "name": [ "superior - inferior ventricles without criss - cross atrioventricular valves", "superior - inferior ventricle without criss - cross atrioventricular valve" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "Fyler:0184", "Fyler:184", "UMLS:C4023308" ], "is_a": [ "HP:0011534" ], "is_obsolete": "", "replace_id": "" }, "HP:0011544": { "name": [ "l - looping of the right ventricle", "l - looping of the right ventricle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023307" ], "is_a": [ "HP:0011534" ], "is_obsolete": "", "replace_id": "" }, "HP:0011545": { "name": [ "abnormal connection of the cardiac segments", "abnormal connection of the cardiac segment" ], "alt_id": [], "def": "A deviance in the normal connections between two cardiac segements.", "synonym": [ [ "abnormal connexion of the cardiac segments", "abnormal connexion of the cardiac segment" ], [ "discordant connection of the cardiac segments", "discordant connection of the cardiac segment" ] ], "xref": [ "UMLS:C4023306" ], "is_a": [ "HP:0001627" ], "is_obsolete": "", "replace_id": "" }, "HP:0011546": { "name": [ "abnormal atrioventricular connection", "abnormal atrioventricular connection" ], "alt_id": [], "def": "An abnormality of the circulatory connection between atria and ventricles.", "synonym": [ [ "abnormal atrioventricular connexion", "abnormal atrioventricular connexion" ] ], "xref": [ "SNOMEDCT_US:253274005", "UMLS:C0344612" ], "is_a": [ "HP:0011545" ], "is_obsolete": "", "replace_id": "" }, "HP:0011547": { "name": [ "absent left sided atrioventricular connection", "absent leave sided atrioventricular connection" ], "alt_id": [], "def": "A defect where there is no connection between the left atrium and left ventricle.", "synonym": [ [ "absent left sided atrioventricular connexion", "absent leave sided atrioventricular connexion" ] ], "xref": [ "SNOMEDCT_US:253290005", "UMLS:C0344629" ], "is_a": [ "HP:0011546" ], "is_obsolete": "", "replace_id": "" }, "HP:0011548": { "name": [ "absent right sided atrioventricular connection", "absent right side atrioventricular connection" ], "alt_id": [], "def": "A defect where there is no connection between the right atrium and right ventricle.", "synonym": [ [ "absent right sided atrioventricular connexion", "absent right side atrioventricular connexion" ] ], "xref": [ "SNOMEDCT_US:253285007", "UMLS:C0344624" ], "is_a": [ "HP:0011546" ], "is_obsolete": "", "replace_id": "" }, "HP:0011549": { "name": [ "univentricular heart with absent left sided atrioventricular connection", "univentricular heart with absent left side atrioventricular connection" ], "alt_id": [], "def": "", "synonym": [ [ "univentricular heart with absent left sided atrioventricular connexion", "univentricular heart with absent left side atrioventricular connexion" ] ], "xref": [ "UMLS:C4023305" ], "is_a": [ "HP:0011547" ], "is_obsolete": "", "replace_id": "" }, "HP:0011550": { "name": [ "biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection", "biventricular heart with straddle right side atrioventricular valve and absent leave sided atrioventricular connection" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023304" ], "is_a": [ "HP:0011547" ], "is_obsolete": "", "replace_id": "" }, "HP:0011551": { "name": [ "right sided atrium to left ventricle and absent left sided atrioventricular connection", "right side atrium to leave ventricle and absent leave sided atrioventricular connection" ], "alt_id": [], "def": "", "synonym": [ [ "right sided atrium to left ventricle and absent left sided atrioventricular connexion", "right side atrium to leave ventricle and absent leave sided atrioventricular connexion" ] ], "xref": [ "UMLS:C4023303" ], "is_a": [ "HP:0011547" ], "is_obsolete": "", "replace_id": "" }, "HP:0011552": { "name": [ "ambiguous atrioventricular connection", "ambiguous atrioventricular connection" ], "alt_id": [], "def": "With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle).", "synonym": [ [ "ambiguous atrioventricular connexion", "ambiguous atrioventricular connexion" ] ], "xref": [ "SNOMEDCT_US:253278008", "UMLS:C0344617" ], "is_a": [ "HP:0011546" ], "is_obsolete": "", "replace_id": "" }, "HP:0011553": { "name": [ "discordant atrioventricular connection", "discordant atrioventricular connection" ], "alt_id": [], "def": "Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.", "synonym": [ [ "discordant atrioventricular connexion", "discordant atrioventricular connexion" ] ], "xref": [ "SNOMEDCT_US:253277003", "UMLS:C0344615" ], "is_a": [ "HP:0011546" ], "is_obsolete": "", "replace_id": "" }, "HP:0011554": { "name": [ "double inlet atrioventricular connection", "double inlet atrioventricular connection" ], "alt_id": [], "def": "The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.", "synonym": [ [ "double inlet atrioventricular connexion", "double inlet atrioventricular connexion" ] ], "xref": [ "EPCC:01.01.14", "ICD-10:Q20.4", "UMLS:C4023302" ], "is_a": [ "HP:0011546" ], "is_obsolete": "", "replace_id": "" }, "HP:0011555": { "name": [ "double inlet left ventricle", "double inlet leave ventricle" ], "alt_id": [], "def": "The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual.", "synonym": [], "xref": [ "EPCC:01.04.04", "ICD-10:Q20.4", "SNOMEDCT_US:253283000", "UMLS:C0344622" ], "is_a": [ "HP:0001750", "HP:0011554" ], "is_obsolete": "", "replace_id": "" }, "HP:0011556": { "name": [ "double inlet right ventricle", "double inlet right ventricle" ], "alt_id": [], "def": "The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.", "synonym": [], "xref": [ "EPCC:01.04.03", "ICD-10:Q20.4", "SNOMEDCT_US:253282005", "UMLS:C0344621" ], "is_a": [ "HP:0001750", "HP:0011554" ], "is_obsolete": "", "replace_id": "" }, "HP:0011557": { "name": [ "double inlet to single ventricle of indeterminate morphology", "double inlet to single ventricle of indeterminate morphology" ], "alt_id": [], "def": "The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle.", "synonym": [], "xref": [ "UMLS:C4023301" ], "is_a": [ "HP:0001750", "HP:0011554" ], "is_obsolete": "", "replace_id": "" }, "HP:0011558": { "name": [ "double inlet to single ventricle with common atrioventricular orifice", "double inlet to single ventricle with common atrioventricular orifice" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023300" ], "is_a": [ "HP:0011557" ], "is_obsolete": "", "replace_id": "" }, "HP:0011559": { "name": [ "double inlet to single ventricle with two atrioventricular valves", "double inlet to single ventricle with two atrioventricular valve" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023299" ], "is_a": [ "HP:0011557" ], "is_obsolete": "", "replace_id": "" }, "HP:0011560": { "name": [ "mitral atresia", "mitral atresia" ], "alt_id": [], "def": "A congenital defect with failure to open of the mitral valve orifice.", "synonym": [ [ "mitral valve atresia", "mitral valve atresia" ] ], "xref": [ "EPCC:06.02.01", "Fyler:0310", "Fyler:310", "ICD-10:Q23.2", "SNOMEDCT_US:23063005", "UMLS:C0344760" ], "is_a": [ "HP:0001633", "HP:0011546" ], "is_obsolete": "", "replace_id": "" }, "HP:0011561": { "name": [ "overriding atrioventricular valve", "override atrioventricular valve" ], "alt_id": [], "def": "An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.", "synonym": [], "xref": [ "UMLS:C4023298" ], "is_a": [ "HP:0011546" ], "is_obsolete": "", "replace_id": "" }, "HP:0011562": { "name": [ "straddling atrioventricular valve", "straddle atrioventricular valve" ], "alt_id": [], "def": "Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect.", "synonym": [], "xref": [ "UMLS:C4023297" ], "is_a": [ "HP:0011546" ], "is_obsolete": "", "replace_id": "" }, "HP:0011563": { "name": [ "abnormal ventriculoarterial connection", "abnormal ventriculoarterial connection" ], "alt_id": [], "def": "An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.", "synonym": [ [ "abnormal ventriculo - arterial connection", "abnormal ventriculo - arterial connection" ], [ "abnormal ventriculoarterial connexion", "abnormal ventriculoarterial connexion" ] ], "xref": [ "UMLS:C4023296" ], "is_a": [ "HP:0011545" ], "is_obsolete": "", "replace_id": "" }, "HP:0011564": { "name": [ "mitral valve arcade", "mitral valve arcade" ], "alt_id": [], "def": "Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle.", "synonym": [ [ "hammock mitral valve", "hammock mitral valve" ] ], "xref": [ "UMLS:C4021143" ], "is_a": [ "HP:0001633" ], "is_obsolete": "", "replace_id": "" }, "HP:0011565": { "name": [ "common atrium", "common atrium" ], "alt_id": [], "def": "Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.", "synonym": [ [ "single atrium", "single atrium" ] ], "xref": [ "Fyler:1140", "ICD-10:Q21.2", "SNOMEDCT_US:253276007", "UMLS:C0392482" ], "is_a": [ "HP:0005120" ], "is_obsolete": "", "replace_id": "" }, "HP:0011566": { "name": [ "cor triatriatum dexter", "cor triatriatum dexter" ], "alt_id": [], "def": "A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue.", "synonym": [ [ "cor triatriatum dextrum", "cor triatriatum dextrum" ] ], "xref": [ "Fyler:2854", "SNOMEDCT_US:274947007", "UMLS:C0344697" ], "is_a": [ "HP:0010774" ], "is_obsolete": "", "replace_id": "" }, "HP:0011567": { "name": [ "sinus venosus atrial septal defect", "sinus venosus atrial septal defect" ], "alt_id": [], "def": "An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting.", "synonym": [], "xref": [ "Fyler:2010", "ICD-10:Q21.1", "MSH:C548009", "SNOMEDCT_US:95268002", "UMLS:C0344730" ], "is_a": [ "HP:0001631" ], "is_obsolete": "", "replace_id": "" }, "HP:0011568": { "name": [ "double orifice mitral valve", "double orifice mitral valve" ], "alt_id": [], "def": "The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue.", "synonym": [], "xref": [ "SNOMEDCT_US:253402005", "UMLS:C0344770" ], "is_a": [ "HP:0001633" ], "is_obsolete": "", "replace_id": "" }, "HP:0011569": { "name": [ "cleft anterior mitral valve leaflet", "cleft anterior mitral valve leaflet" ], "alt_id": [], "def": "Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect.", "synonym": [], "xref": [ "UMLS:C4023295" ], "is_a": [ "HP:0031480" ], "is_obsolete": "", "replace_id": "" }, "HP:0011570": { "name": [ "congenital mitral stenosis", "congenital mitral stenosis" ], "alt_id": [], "def": "Mitral stenosis with congenital onset.", "synonym": [], "xref": [ "SNOMEDCT_US:82458004", "UMLS:C0158618" ], "is_a": [ "HP:0001718" ], "is_obsolete": "", "replace_id": "" }, "HP:0011571": { "name": [ "parachute mitral valve", "parachute mitral valve" ], "alt_id": [], "def": "Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles.", "synonym": [], "xref": [ "SNOMEDCT_US:204362007", "UMLS:C0546965" ], "is_a": [ "HP:0025523" ], "is_obsolete": "", "replace_id": "" }, "HP:0011572": { "name": [ "supramitral ring", "supramitral ring" ], "alt_id": [], "def": "A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve.", "synonym": [ [ "membranous supravalvular mitral stenosis", "membranous supravalvular mitral stenosis" ], [ "supravalvular mitral ring", "supravalvular mitral ring" ] ], "xref": [ "UMLS:C4021142" ], "is_a": [ "HP:0001633" ], "is_obsolete": "", "replace_id": "" }, "HP:0011573": { "name": [ "hypoplastic tricuspid valve", "hypoplastic tricuspid valve" ], "alt_id": [], "def": "Congenital defect characterized by underdevelopment of the tricuspid valve.", "synonym": [ [ "tricuspid valve hypoplasia", "tricuspid valve hypoplasia" ], [ "underdeveloped tricuspid valve", "underdeveloped tricuspid valve" ] ], "xref": [ "Fyler:1720", "UMLS:C4023294" ], "is_a": [ "HP:0001702" ], "is_obsolete": "", "replace_id": "" }, "HP:0011574": { "name": [ "imperforate atrioventricular valve", "imperforate atrioventricular valve" ], "alt_id": [], "def": "An atrioventricular valve that has failed to open (atretic).", "synonym": [ [ "unopened atrioventricular valve", "unopened atrioventricular valve" ] ], "xref": [ "UMLS:C4023293" ], "is_a": [ "HP:0006705" ], "is_obsolete": "", "replace_id": "" }, "HP:0011575": { "name": [ "imperforate tricuspid valve", "imperforate tricuspid valve" ], "alt_id": [], "def": "A tricuspid valve that has failed to open.", "synonym": [ [ "unopened tricuspid valve", "unopened tricuspid valve" ] ], "xref": [ "UMLS:C4023292" ], "is_a": [ "HP:0001702", "HP:0011574" ], "is_obsolete": "", "replace_id": "" }, "HP:0011576": { "name": [ "intermediate atrioventricular canal defect", "intermediate atrioventricular canal defect" ], "alt_id": [], "def": "A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices.", "synonym": [ [ "intermediate atrioventricular septal defect", "intermediate atrioventricular septal defect" ] ], "xref": [ "Fyler:1121", "UMLS:C4023291" ], "is_a": [ "HP:0006695" ], "is_obsolete": "", "replace_id": "" }, "HP:0011577": { "name": [ "partial atrioventricular canal defect", "partial atrioventricular canal defect" ], "alt_id": [], "def": "A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices.", "synonym": [], "xref": [ "SNOMEDCT_US:718216009", "UMLS:C4023290" ], "is_a": [ "HP:0006695" ], "is_obsolete": "", "replace_id": "" }, "HP:0011578": { "name": [ "transitional atrioventricular canal defect", "transitional atrioventricular canal defect" ], "alt_id": [], "def": "A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices.", "synonym": [], "xref": [ "UMLS:C4023289" ], "is_a": [ "HP:0006695" ], "is_obsolete": "", "replace_id": "" }, "HP:0011579": { "name": [ "unbalanced atrioventricular canal defect", "unbalanced atrioventricular canal defect" ], "alt_id": [], "def": "Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).", "synonym": [ [ "unbalanced atrioventricular septal defect", "unbalanced atrioventricular septal defect" ] ], "xref": [ "UMLS:C3280940" ], "is_a": [ "HP:0006695" ], "is_obsolete": "", "replace_id": "" }, "HP:0011580": { "name": [ "short chordae tendineae of the mitral valve", "short chordae tendineae of the mitral valve" ], "alt_id": [], "def": "Abnormally short chordae tendineae of the mitral valve.", "synonym": [], "xref": [ "UMLS:C4023288" ], "is_a": [ "HP:0025523" ], "is_obsolete": "", "replace_id": "" }, "HP:0011581": { "name": [ "double outlet left ventricle", "double outlet leave ventricle" ], "alt_id": [], "def": "A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle.", "synonym": [], "xref": [ "Fyler:0650", "Fyler:650", "ICD-10:Q20.2", "SNOMEDCT_US:7368005", "UMLS:C0265809" ], "is_a": [ "HP:0001711" ], "is_obsolete": "", "replace_id": "" }, "HP:0011582": { "name": [ "abdominal ectopia cordis", "abdominal ectopia cordis" ], "alt_id": [], "def": "Displacement of the heart outside the thoracic cavity and into the abdomen.", "synonym": [], "xref": [ "UMLS:C4023287" ], "is_a": [ "HP:0001683" ], "is_obsolete": "", "replace_id": "" }, "HP:0011583": { "name": [ "cervical ectopia cordis", "cervical ectopia cordis" ], "alt_id": [], "def": "A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum.", "synonym": [], "xref": [ "UMLS:C4023286" ], "is_a": [ "HP:0001683" ], "is_obsolete": "", "replace_id": "" }, "HP:0011584": { "name": [ "thoracocervical ectopia cordis", "thoracocervical ectopia cordis" ], "alt_id": [], "def": "A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.", "synonym": [], "xref": [ "UMLS:C4023285" ], "is_a": [ "HP:0001683" ], "is_obsolete": "", "replace_id": "" }, "HP:0011585": { "name": [ "thoracic ectopia cordis", "thoracic ectopia cordis" ], "alt_id": [], "def": "Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum.", "synonym": [], "xref": [ "UMLS:C4023284" ], "is_a": [ "HP:0001683" ], "is_obsolete": "", "replace_id": "" }, "HP:0011586": { "name": [ "thoracoabdominal ectopia cordis", "thoracoabdominal ectopia cordis" ], "alt_id": [], "def": "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity.", "synonym": [], "xref": [ "UMLS:C4023283" ], "is_a": [ "HP:0001683" ], "is_obsolete": "", "replace_id": "" }, "HP:0011587": { "name": [ "abnormal branching pattern of the aortic arch", "abnormal branch pattern of the aortic arch" ], "alt_id": [], "def": "A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries.", "synonym": [], "xref": [ "UMLS:C4023282" ], "is_a": [ "HP:0012303" ], "is_obsolete": "", "replace_id": "" }, "HP:0011588": { "name": [ "cervical aortic arch", "cervical aortic arch" ], "alt_id": [], "def": "The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.", "synonym": [], "xref": [ "SNOMEDCT_US:253657003", "UMLS:C0345065" ], "is_a": [ "HP:0011587" ], "is_obsolete": "", "replace_id": "" }, "HP:0011589": { "name": [ "common origin of the right brachiocephalic artery and left common carotid artery", "common origin of the right brachiocephalic artery and leave common carotid artery" ], "alt_id": [], "def": "The left common carotid artery has a common origin with the innominate artery.", "synonym": [ [ "bovine arch", "bovine arch" ], [ "common brachiocephalic trunk", "common brachiocephalic trunk" ], [ "ovine arch", "ovine arch" ] ], "xref": [ "SNOMEDCT_US:460890003", "UMLS:C3532020", "UMLS:C4020746", "UMLS:C4021141" ], "is_a": [ "HP:0011587" ], "is_obsolete": "", "replace_id": "" }, "HP:0011590": { "name": [ "double aortic arch", "double aortic arch" ], "alt_id": [], "def": "A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).", "synonym": [], "xref": [ "Fyler:2761", "SNOMEDCT_US:10451007", "UMLS:C0265883" ], "is_a": [ "HP:0011587" ], "is_obsolete": "", "replace_id": "" }, "HP:0011591": { "name": [ "left aortic arch with cervical origin of the right subclavian artery", "leave aortic arch with cervical origin of the right subclavian artery" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023281" ], "is_a": [ "HP:0031055" ], "is_obsolete": "", "replace_id": "" }, "HP:0011592": { "name": [ "left aortic arch with isolated subclavian artery", "leave aortic arch with isolated subclavian artery" ], "alt_id": [], "def": "The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis.", "synonym": [], "xref": [ "UMLS:C4023280" ], "is_a": [ "HP:0031055" ], "is_obsolete": "", "replace_id": "" }, "HP:0011593": { "name": [ "left aortic arch with retroesophageal diverticulum of kommerell", "leave aortic arch with retroesophageal diverticulum of kommerell" ], "alt_id": [], "def": "A patent ductus arteriosus or ductal ligament completes the ring.", "synonym": [ [ "kommerell diverticulum", "kommerell diverticulum" ] ], "xref": [ "SNOMEDCT_US:74561007", "UMLS:C0265885" ], "is_a": [ "HP:0031055" ], "is_obsolete": "", "replace_id": "" }, "HP:0011594": { "name": [ "right aortic arch with retroesophageal diverticulum of kommerell", "right aortic arch with retroesophageal diverticulum of kommerell" ], "alt_id": [], "def": "Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch.", "synonym": [], "xref": [ "UMLS:C4023279" ], "is_a": [ "HP:0012020" ], "is_obsolete": "", "replace_id": "" }, "HP:0011595": { "name": [ "left aortic arch with retroesophageal right subclavian artery", "leave aortic arch with retroesophageal right subclavian artery" ], "alt_id": [], "def": "Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body.", "synonym": [], "xref": [ "UMLS:C4023278" ], "is_a": [ "HP:0031055" ], "is_obsolete": "", "replace_id": "" }, "HP:0011596": { "name": [ "left aortic arch with right descending aorta and right ductus arteriosus", "leave aortic arch with right descend aorta and right ductus arteriosus" ], "alt_id": [], "def": "The ring may be completed by the ductal ligament.", "synonym": [], "xref": [ "UMLS:C4023277" ], "is_a": [ "HP:0031055" ], "is_obsolete": "", "replace_id": "" }, "HP:0011597": { "name": [ "right aortic arch with left descending aorta and left ductus arteriosus", "right aortic arch with left descend aorta and leave ductus arteriosus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023276" ], "is_a": [ "HP:0012020" ], "is_obsolete": "", "replace_id": "" }, "HP:0011598": { "name": [ "right aortic arch with retroesophageal left subclavian artery", "right aortic arch with retroesophageal leave subclavian artery" ], "alt_id": [], "def": "", "synonym": [ [ "right aortic arch with aberrant left subclavian artery", "right aortic arch with aberrant leave subclavian artery" ], [ "right aortic arch with anomalous left subclavian artery", "right aortic arch with anomalous left subclavian artery" ] ], "xref": [ "UMLS:C4021140" ], "is_a": [ "HP:0012020" ], "is_obsolete": "", "replace_id": "" }, "HP:0011599": { "name": [ "mesocardia", "mesocardia" ], "alt_id": [], "def": "Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.", "synonym": [], "xref": [ "Fyler:0140", "Fyler:140", "SNOMEDCT_US:16567006", "UMLS:C0265865" ], "is_a": [ "HP:0004307" ], "is_obsolete": "", "replace_id": "" }, "HP:0011600": { "name": [ "abnormal direction of ventricular apex", "abnormal direction of ventricular apex" ], "alt_id": [], "def": "Abnormal plane of direction of the heart from the base to the apex. Left sided is normal.", "synonym": [], "xref": [ "UMLS:C4023275" ], "is_a": [ "HP:0004307" ], "is_obsolete": "", "replace_id": "" }, "HP:0011601": { "name": [ "rightward direction of ventricular apex", "rightward direction of ventricular apex" ], "alt_id": [], "def": "Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal.", "synonym": [], "xref": [ "UMLS:C4023274" ], "is_a": [ "HP:0011600" ], "is_obsolete": "", "replace_id": "" }, "HP:0011602": { "name": [ "midline direction of ventricular apex", "midline direction of ventricular apex" ], "alt_id": [], "def": "Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal.", "synonym": [], "xref": [ "UMLS:C4023273" ], "is_a": [ "HP:0011600" ], "is_obsolete": "", "replace_id": "" }, "HP:0011603": { "name": [ "congenital malformation of the great arteries", "congenital malformation of the great artery" ], "alt_id": [], "def": "Defect or defects of the morphogenesis of the aorta and pulmonary arteries.", "synonym": [], "xref": [ "UMLS:C0478012" ], "is_a": [ "HP:0030962" ], "is_obsolete": "", "replace_id": "" }, "HP:0011604": { "name": [ "aortopulmonary window", "aortopulmonary window" ], "alt_id": [], "def": "A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt.", "synonym": [], "xref": [ "Fyler:0560", "Fyler:560", "MSH:D001028", "SNOMEDCT_US:17024001", "UMLS:C0003516" ], "is_a": [ "HP:0011603" ], "is_obsolete": "", "replace_id": "" }, "HP:0011605": { "name": [ "congenitally corrected transposition of the great arteries with ventricular septal defect", "congenitally correct transposition of the great artery with ventricular septal defect" ], "alt_id": [], "def": "A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum.", "synonym": [ [ "cctga", "cctga" ] ], "xref": [ "UMLS:C4023272" ], "is_a": [ "HP:0011540" ], "is_obsolete": "", "replace_id": "" }, "HP:0011606": { "name": [ "obsolete transposition of the great arteries with intact ventricular septum", "obsolete transposition of the great artery with intact ventricular septum" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0011607": { "name": [ "obsolete transposition of the great arteries with ventricular septal defect", "obsolete transposition of the great artery with ventricular septal defect" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0011608": { "name": [ "type ii truncus arteriosus", "type ii truncus arteriosus" ], "alt_id": [], "def": "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus.", "synonym": [ [ "persistent truncus arteriosus type ii", "persistent truncus arteriosus type ii" ], [ "type 2 truncus arteriosus", "type 2 truncus arteriosus" ] ], "xref": [ "Fyler:0520", "Fyler:520", "UMLS:C4021137" ], "is_a": [ "HP:0001660" ], "is_obsolete": "", "replace_id": "" }, "HP:0011609": { "name": [ "type iii truncus arteriosus", "type iii truncus arteriosus" ], "alt_id": [], "def": "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta.", "synonym": [ [ "persistent truncus arteriosus type iii", "persistent truncus arteriosus type iii" ], [ "type 3 truncus arteriosus", "type 3 truncus arteriosus" ] ], "xref": [ "Fyler:0530", "Fyler:530", "UMLS:C4021136" ], "is_a": [ "HP:0001660" ], "is_obsolete": "", "replace_id": "" }, "HP:0011610": { "name": [ "type iv truncus arteriosus", "type iv truncus arteriosus" ], "alt_id": [], "def": "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present.", "synonym": [ [ "persistent truncus arteriosus type iv", "persistent truncus arteriosus type iv" ], [ "type 4 truncus arteriosus", "type 4 truncus arteriosus" ] ], "xref": [ "Fyler:0540", "Fyler:540", "UMLS:C4021135" ], "is_a": [ "HP:0001660" ], "is_obsolete": "", "replace_id": "" }, "HP:0011611": { "name": [ "interrupted aortic arch", "interrupt aortic arch" ], "alt_id": [ "HP:0006680" ], "def": "Non-continuity of the arch of aorta with an atretic point or absent segment.", "synonym": [ [ "aortic arch obstruction", "aortic arch obstruction" ], [ "atretic transverse aortic arch", "atretic transverse aortic arch" ] ], "xref": [ "Fyler:1241", "Fyler:1250", "SNOMEDCT_US:218728005", "UMLS:C0152419" ], "is_a": [ "HP:0012303" ], "is_obsolete": "", "replace_id": "" }, "HP:0011612": { "name": [ "interrupted aortic arch type a", "interrupt aortic arch type a" ], "alt_id": [], "def": "Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.", "synonym": [], "xref": [ "SNOMEDCT_US:253681005", "UMLS:C0345092" ], "is_a": [ "HP:0011611" ], "is_obsolete": "", "replace_id": "" }, "HP:0011613": { "name": [ "interrupted aortic arch type b", "interrupt aortic arch type b" ], "alt_id": [], "def": "Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries.", "synonym": [ [ "interrupted aortic arch , type b", "interrupt aortic arch , type b" ] ], "xref": [ "Fyler:1252", "SNOMEDCT_US:253682003", "UMLS:C0345093" ], "is_a": [ "HP:0011611" ], "is_obsolete": "", "replace_id": "" }, "HP:0011614": { "name": [ "interrupted aortic arch type c", "interrupt aortic arch type c" ], "alt_id": [], "def": "Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries.", "synonym": [], "xref": [ "SNOMEDCT_US:253683008", "UMLS:C0345094" ], "is_a": [ "HP:0011611" ], "is_obsolete": "", "replace_id": "" }, "HP:0011615": { "name": [ "abnormal pulmonary situs morphology", "abnormal pulmonary situs morphology" ], "alt_id": [], "def": "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi.", "synonym": [ [ "abnormality of pulmonary situs", "abnormality of pulmonary situs" ] ], "xref": [ "UMLS:C4023271" ], "is_a": [ "HP:4000059" ], "is_obsolete": "", "replace_id": "" }, "HP:0011616": { "name": [ "pulmonary situs inversus", "pulmonary situs inversus" ], "alt_id": [], "def": "Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus.", "synonym": [], "xref": [ "UMLS:C4023270" ], "is_a": [ "HP:0011615" ], "is_obsolete": "", "replace_id": "" }, "HP:0011617": { "name": [ "pulmonary situs ambiguus", "pulmonary situs ambiguus" ], "alt_id": [], "def": "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same.", "synonym": [], "xref": [ "UMLS:C4023269" ], "is_a": [ "HP:0011615" ], "is_obsolete": "", "replace_id": "" }, "HP:0011618": { "name": [ "pulmonary situs ambiguus with bilateral morphologic right lungs", "pulmonary situs ambiguus with bilateral morphologic right lung" ], "alt_id": [], "def": "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung.", "synonym": [], "xref": [ "UMLS:C4023268" ], "is_a": [ "HP:0011617" ], "is_obsolete": "", "replace_id": "" }, "HP:0011619": { "name": [ "pulmonary situs ambiguus with bilateral morphologic left lungs", "pulmonary situs ambiguus with bilateral morphologic leave lung" ], "alt_id": [], "def": "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung.", "synonym": [], "xref": [ "UMLS:C4023267" ], "is_a": [ "HP:0011617" ], "is_obsolete": "", "replace_id": "" }, "HP:0011620": { "name": [ "abnormality of abdominal situs", "abnormality of abdominal situs" ], "alt_id": [], "def": "An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs.", "synonym": [], "xref": [ "UMLS:C4023266" ], "is_a": [ "HP:0002012", "HP:0030853" ], "is_obsolete": "", "replace_id": "" }, "HP:0011621": { "name": [ "gerbode ventricular septal defect", "gerbode ventricular septal defect" ], "alt_id": [], "def": "A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve.", "synonym": [ [ "left ventricular - right atrial communication", "leave ventricular - right atrial communication" ] ], "xref": [ "SNOMEDCT_US:41893002", "UMLS:C0265812", "UMLS:C4023265" ], "is_a": [ "HP:0001629" ], "is_obsolete": "", "replace_id": "" }, "HP:0011622": { "name": [ "inlet ventricular septal defect", "inlet ventricular septal defect" ], "alt_id": [], "def": "A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.", "synonym": [ [ "atrioventricular canal type ventricular septal defect", "atrioventricular canal type ventricular septal defect" ], [ "type 3 ventricular septal defect", "type 3 ventricular septal defect" ] ], "xref": [ "Fyler:1340" ], "is_a": [ "HP:0001629" ], "is_obsolete": "", "replace_id": "" }, "HP:0011623": { "name": [ "muscular ventricular septal defect", "muscular ventricular septal defect" ], "alt_id": [], "def": "The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.", "synonym": [ [ "type 4 ventricular septal defect", "type 4 ventricular septal defect" ], [ "ventricular septal defect , muscular", "ventricular septal defect , muscular" ] ], "xref": [ "Fyler:1320", "SNOMEDCT_US:94706008", "UMLS:C0685707" ], "is_a": [ "HP:0001629" ], "is_obsolete": "", "replace_id": "" }, "HP:0011624": { "name": [ "apical muscular ventricular septal defect", "apical muscular ventricular septal defect" ], "alt_id": [], "def": "A muscular ventricular septal defect located at the apex of the heart.", "synonym": [], "xref": [ "UMLS:C4023264" ], "is_a": [ "HP:0011623" ], "is_obsolete": "", "replace_id": "" }, "HP:0011625": { "name": [ "multiple muscular ventricular septal defects", "multiple muscular ventricular septal defect" ], "alt_id": [], "def": "A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.", "synonym": [ [ "swiss cheese ventricular septal defect", "swiss cheese ventricular septal defect" ] ], "xref": [ "UMLS:C4023263" ], "is_a": [ "HP:0011623" ], "is_obsolete": "", "replace_id": "" }, "HP:0011626": { "name": [ "scimitar anomaly", "scimitar anomaly" ], "alt_id": [], "def": "Right pulmonary venous return to the inferior vena cava.", "synonym": [ [ "pulmonary venolobar syndrome", "pulmonary venolobar syndrome" ], [ "scimitar syndrome", "scimitar syndrome" ] ], "xref": [ "ICD-10:Q26.8", "MSH:D012587", "SNOMEDCT_US:111323005", "SNOMEDCT_US:39905002", "UMLS:C0036400" ], "is_a": [ "HP:0010773" ], "is_obsolete": "", "replace_id": "" }, "HP:0011627": { "name": [ "aorto - ventricular tunnel", "aorto - ventricular tunnel" ], "alt_id": [], "def": "Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle.", "synonym": [], "xref": [ "UMLS:C4023262" ], "is_a": [ "HP:0001679" ], "is_obsolete": "", "replace_id": "" }, "HP:0011628": { "name": [ "congenital defect of the pericardium", "congenital defect of the pericardium" ], "alt_id": [], "def": "A developmental defect of the pericardium with congenital onset.", "synonym": [], "xref": [ "UMLS:C4023261" ], "is_a": [ "HP:0001697" ], "is_obsolete": "", "replace_id": "" }, "HP:0011629": { "name": [ "total absence of the pericardium", "total absence of the pericardium" ], "alt_id": [], "def": "No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy.", "synonym": [ [ "absent pericardium", "absent pericardium" ], [ "congenital absence of the pericardium", "congenital absence of the pericardium" ] ], "xref": [ "Fyler:1910", "SNOMEDCT_US:253732001", "UMLS:C0345140" ], "is_a": [ "HP:0011628" ], "is_obsolete": "", "replace_id": "" }, "HP:0011630": { "name": [ "complete diaphragmatic absence of pericardium", "complete diaphragmatic absence of pericardium" ], "alt_id": [], "def": "No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.", "synonym": [], "xref": [ "UMLS:C4023259" ], "is_a": [ "HP:0011628" ], "is_obsolete": "", "replace_id": "" }, "HP:0011631": { "name": [ "complete right sided absence of pericardium", "complete right side absence of pericardium" ], "alt_id": [], "def": "No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy.", "synonym": [], "xref": [ "UMLS:C4023258" ], "is_a": [ "HP:0011628" ], "is_obsolete": "", "replace_id": "" }, "HP:0011632": { "name": [ "partial right sided absence of pericardium", "partial right side absence of pericardium" ], "alt_id": [], "def": "A congenital anomaly with lack of part of the pericardium on the righthand side of the heart.", "synonym": [], "xref": [ "UMLS:C4023257" ], "is_a": [ "HP:0011628" ], "is_obsolete": "", "replace_id": "" }, "HP:0011633": { "name": [ "complete left sided absence of pericardium", "complete leave sided absence of pericardium" ], "alt_id": [], "def": "A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart.", "synonym": [ [ "absent lining around of left side of heart", "absent line around of left side of heart" ] ], "xref": [ "UMLS:C4023256" ], "is_a": [ "HP:0011628" ], "is_obsolete": "", "replace_id": "" }, "HP:0011634": { "name": [ "partial left sided absence of pericardium", "partial leave sided absence of pericardium" ], "alt_id": [], "def": "A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart.", "synonym": [], "xref": [ "UMLS:C4023255" ], "is_a": [ "HP:0011628" ], "is_obsolete": "", "replace_id": "" }, "HP:0011635": { "name": [ "partial diaphragmatic absence of pericardium", "partial diaphragmatic absence of pericardium" ], "alt_id": [], "def": "Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.", "synonym": [], "xref": [ "UMLS:C4023254" ], "is_a": [ "HP:0011628" ], "is_obsolete": "", "replace_id": "" }, "HP:0011636": { "name": [ "abnormal coronary artery origin", "abnormal coronary artery origin" ], "alt_id": [], "def": "Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.", "synonym": [], "xref": [ "UMLS:C4023253" ], "is_a": [ "HP:0006704" ], "is_obsolete": "", "replace_id": "" }, "HP:0011637": { "name": [ "anomalous origin of coronary artery from the pulmonary artery", "anomalous origin of coronary artery from the pulmonary artery" ], "alt_id": [], "def": "A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta.", "synonym": [], "xref": [ "UMLS:C4023252" ], "is_a": [ "HP:0011636" ], "is_obsolete": "", "replace_id": "" }, "HP:0011638": { "name": [ "anomalous origin of left coronary artery from the pulmonary artery", "anomalous origin of left coronary artery from the pulmonary artery" ], "alt_id": [], "def": "Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve.", "synonym": [ [ "anomalous left coronary artery from the pulmonary artery", "anomalous leave coronary artery from the pulmonary artery" ], [ "bland - garland - white syndrome", "bland - garland - white syndrome" ] ], "xref": [ "Fyler:3101", "SNOMEDCT_US:450301003", "UMLS:C3472166" ], "is_a": [ "HP:0011637" ], "is_obsolete": "", "replace_id": "" }, "HP:0011639": { "name": [ "anomalous origin of right coronary artery from the pulmonary artery", "anomalous origin of right coronary artery from the pulmonary artery" ], "alt_id": [], "def": "Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve.", "synonym": [], "xref": [ "SNOMEDCT_US:450300002", "UMLS:C3472165" ], "is_a": [ "HP:0011637" ], "is_obsolete": "", "replace_id": "" }, "HP:0011640": { "name": [ "single coronary artery origin", "single coronary artery origin" ], "alt_id": [], "def": "The presence of a single coronary artery ostium from which both coronary arteries arise.", "synonym": [], "xref": [ "UMLS:C4023251" ], "is_a": [ "HP:0011636" ], "is_obsolete": "", "replace_id": "" }, "HP:0011641": { "name": [ "coronary artery fistula", "coronary artery fistula" ], "alt_id": [], "def": "A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.", "synonym": [ [ "coronary fistula", "coronary fistula" ] ], "xref": [ "Fyler:2230", "SNOMEDCT_US:373093003", "UMLS:C0265898" ], "is_a": [ "HP:0011686" ], "is_obsolete": "", "replace_id": "" }, "HP:0011642": { "name": [ "abnormal coronary sinus morphology", "abnormal coronary sinus morphology" ], "alt_id": [], "def": "An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium.", "synonym": [ [ "abnormality of the coronary sinus", "abnormality of the coronary sinus" ] ], "xref": [ "Fyler:2840", "SNOMEDCT_US:253323000", "UMLS:C0344680" ], "is_a": [ "HP:0005120" ], "is_obsolete": "", "replace_id": "" }, "HP:0011643": { "name": [ "coronary sinus atrial septal defect", "coronary sinus atrial septal defect" ], "alt_id": [], "def": "An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus.", "synonym": [], "xref": [ "ICD-10:Q21.1", "UMLS:C2063331" ], "is_a": [ "HP:0011642" ], "is_obsolete": "", "replace_id": "" }, "HP:0011644": { "name": [ "coronary sinus diverticulum", "coronary sinus diverticulum" ], "alt_id": [], "def": "A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus.", "synonym": [ [ "diverticulum of the coronary sinus", "diverticulum of the coronary sinus" ] ], "xref": [ "SNOMEDCT_US:447661004", "UMLS:C3163894" ], "is_a": [ "HP:0011642" ], "is_obsolete": "", "replace_id": "" }, "HP:0011645": { "name": [ "dilatation of the sinus of valsalva", "dilatation of the sinus of valsalva" ], "alt_id": [], "def": "Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve.", "synonym": [ [ "aneurysm of the aortic sinus", "aneurysm of the aortic sinus" ], [ "aortic sinus aneurysm", "aortic sinus aneurysm" ], [ "sinus of valsalva aneurysm", "sinus of valsalva aneurysm" ] ], "xref": [ "Fyler:2316", "SNOMEDCT_US:54160000", "UMLS:C2239253" ], "is_a": [ "HP:0004970" ], "is_obsolete": "", "replace_id": "" }, "HP:0011646": { "name": [ "juxtaductal coarctation of the aorta", "juxtaductal coarctation of the aorta" ], "alt_id": [], "def": "Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch.", "synonym": [], "xref": [ "UMLS:C4023250" ], "is_a": [ "HP:0012305" ], "is_obsolete": "", "replace_id": "" }, "HP:0011647": { "name": [ "postductal coarctation of the aorta", "postductal coarctation of the aorta" ], "alt_id": [], "def": "Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch.", "synonym": [ [ "postductal aortic coarctation", "postductal aortic coarctation" ] ], "xref": [ "SNOMEDCT_US:72242008", "UMLS:C0265879" ], "is_a": [ "HP:0012305" ], "is_obsolete": "", "replace_id": "" }, "HP:0011648": { "name": [ "patent ductus arteriosus after birth at term", "patent ductus arteriosus after birth at term" ], "alt_id": [], "def": "Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.", "synonym": [], "xref": [ "UMLS:C4023249" ], "is_a": [ "HP:0001643" ], "is_obsolete": "", "replace_id": "" }, "HP:0011649": { "name": [ "patent ductus arteriosus after premature birth", "patent ductus arteriosus after premature birth" ], "alt_id": [], "def": "Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.", "synonym": [], "xref": [ "UMLS:C4023248" ], "is_a": [ "HP:0001643" ], "is_obsolete": "", "replace_id": "" }, "HP:0011650": { "name": [ "bilateral ductus arteriosus", "bilateral ductus arteriosus" ], "alt_id": [], "def": "The presence of both a left and a right ductus arteriosus.", "synonym": [ [ "bilateral ductus botalli", "bilateral ductus botalli" ] ], "xref": [ "SNOMEDCT_US:461093009", "UMLS:C0431501" ], "is_a": [ "HP:0001643" ], "is_obsolete": "", "replace_id": "" }, "HP:0011651": { "name": [ "double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis", "double outlet right ventricle with doubly commit ventricular septal defect and pulmonary stenosis" ], "alt_id": [], "def": "A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.", "synonym": [ [ "dorv with doubly committed vsd and pulmonary stenosis", "dorv with doubly commit vsd and pulmonary stenosis" ] ], "xref": [ "SNOMEDCT_US:448516008", "UMLS:C3165091" ], "is_a": [ "HP:0001719" ], "is_obsolete": "", "replace_id": "" }, "HP:0011652": { "name": [ "double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis", "double outlet right ventricle with doubly commit ventricular septal defect without pulmonary stenosis" ], "alt_id": [], "def": "A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.", "synonym": [ [ "dorv with doubly committed vsd", "dorv with doubly commit vsd" ], [ "double outlet right ventricle , doubly committed ventricular septal defect", "double outlet right ventricle , doubly commit ventricular septal defect" ] ], "xref": [ "Fyler:0604", "Fyler:604", "UMLS:C4023247" ], "is_a": [ "HP:0001719" ], "is_obsolete": "", "replace_id": "" }, "HP:0011653": { "name": [ "double outlet right ventricle with non - committed ventricular septal defect and pulmonary stenosis", "double outlet right ventricle with non - committed ventricular septal defect and pulmonary stenosis" ], "alt_id": [], "def": "A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.", "synonym": [ [ "dorv with non - committed vsd and pulmonary stenosis", "dorv with non - commit vsd and pulmonary stenosis" ] ], "xref": [ "UMLS:C4023246" ], "is_a": [ "HP:0001719" ], "is_obsolete": "", "replace_id": "" }, "HP:0011654": { "name": [ "double outlet right ventricle with non - committed ventricular septal defect without pulmonary stenosis", "double outlet right ventricle with non - committed ventricular septal defect without pulmonary stenosis" ], "alt_id": [], "def": "A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.", "synonym": [ [ "dorv with non - committed vsd without pulmonary stenosis", "dorv with non - committed vsd without pulmonary stenosis" ], [ "double outlet right ventricle , noncommitted ventricular septal defect", "double outlet right ventricle , noncommitted ventricular septal defect" ] ], "xref": [ "Fyler:0603", "Fyler:603", "UMLS:C4023245" ], "is_a": [ "HP:0001719" ], "is_obsolete": "", "replace_id": "" }, "HP:0011655": { "name": [ "double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis", "double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis" ], "alt_id": [], "def": "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.", "synonym": [ [ "dorv with subaortic vsd and pulmonary stenosis", "dorv with subaortic vsd and pulmonary stenosis" ] ], "xref": [ "UMLS:C4023244" ], "is_a": [ "HP:0001719" ], "is_obsolete": "", "replace_id": "" }, "HP:0011656": { "name": [ "double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis", "double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis" ], "alt_id": [], "def": "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.", "synonym": [ [ "dorv with subaortic vsd without pulmonary stenosis", "dorv with subaortic vsd without pulmonary stenosis" ] ], "xref": [ "UMLS:C4023243" ], "is_a": [ "HP:0001719" ], "is_obsolete": "", "replace_id": "" }, "HP:0011657": { "name": [ "double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis", "double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis" ], "alt_id": [], "def": "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.", "synonym": [ [ "dorv with subpulmonary vsd and pulmonary stenosis", "dorv with subpulmonary vsd and pulmonary stenosis" ] ], "xref": [ "UMLS:C4023242" ], "is_a": [ "HP:0001719" ], "is_obsolete": "", "replace_id": "" }, "HP:0011658": { "name": [ "double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis", "double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis" ], "alt_id": [], "def": "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.", "synonym": [ [ "dorv with subpulmonary vsd without pulmonary stenosis", "dorv with subpulmonary vsd without pulmonary stenosis" ], [ "taussig - bing anomaly", "taussig - bing anomaly" ] ], "xref": [ "UMLS:C4023241" ], "is_a": [ "HP:0001719" ], "is_obsolete": "", "replace_id": "" }, "HP:0011659": { "name": [ "tetralogy of fallot with absent pulmonary valve", "tetralogy of fallot with absent pulmonary valve" ], "alt_id": [], "def": "Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.", "synonym": [ [ "tetralogy of fallot with absent pulmonary valve syndrome", "tetralogy of fallot with absent pulmonary valve syndrome" ] ], "xref": [ "SNOMEDCT_US:399228007", "UMLS:C1302264" ], "is_a": [ "HP:0001636", "HP:0005134" ], "is_obsolete": "", "replace_id": "" }, "HP:0011660": { "name": [ "anomalous origin of one pulmonary artery from ascending aorta", "anomalous origin of one pulmonary artery from ascend aorta" ], "alt_id": [], "def": "Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.", "synonym": [ [ "hemitruncus", "hemitruncus" ] ], "xref": [ "Fyler:0550", "Fyler:550", "UMLS:C4021134" ], "is_a": [ "HP:0030966" ], "is_obsolete": "", "replace_id": "" }, "HP:0011661": { "name": [ "anomalous origin of left pulmonary artery from ascending aorta", "anomalous origin of left pulmonary artery from ascend aorta" ], "alt_id": [], "def": "The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.", "synonym": [], "xref": [ "SNOMEDCT_US:253637002", "UMLS:C0345040" ], "is_a": [ "HP:0011660" ], "is_obsolete": "", "replace_id": "" }, "HP:0011662": { "name": [ "tricuspid atresia", "tricuspid atresia" ], "alt_id": [], "def": "Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.", "synonym": [ [ "tricuspid valve atresia", "tricuspid valve atresia" ] ], "xref": [ "EPCC:06.01.01", "Fyler:0400", "Fyler:400", "ICD-10:Q22.4", "MSH:D018785", "SNOMEDCT_US:253455004", "SNOMEDCT_US:63042009", "UMLS:C0243002" ], "is_a": [ "HP:0001702" ], "is_obsolete": "", "replace_id": "" }, "HP:0011663": { "name": [ "right ventricular cardiomyopathy", "right ventricular cardiomyopathy" ], "alt_id": [], "def": "Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.", "synonym": [ [ "cardiomyopathy , esp . right ventricular", "cardiomyopathy , esp . right ventricular" ], [ "cardiomyopathy , right ventricular", "cardiomyopathy , right ventricular" ] ], "xref": [ "UMLS:C2063326" ], "is_a": [ "HP:0001638" ], "is_obsolete": "", "replace_id": "" }, "HP:0011664": { "name": [ "left ventricular noncompaction cardiomyopathy", "leave ventricular noncompaction cardiomyopathy" ], "alt_id": [], "def": "Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.", "synonym": [ [ "left ventricular non - compaction cardiomyopathy", "leave ventricular non - compaction cardiomyopathy" ] ], "xref": [ "UMLS:C4021133" ], "is_a": [ "HP:0012817" ], "is_obsolete": "", "replace_id": "" }, "HP:0011665": { "name": [ "takotsubo cardiomyopathy", "takotsubo cardiomyopathy" ], "alt_id": [], "def": "Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation.", "synonym": [ [ "broken - heart syndrome", "broken - heart syndrome" ] ], "xref": [ "MSH:D054549", "SNOMEDCT_US:441541008", "UMLS:C1739395" ], "is_a": [ "HP:0001638" ], "is_obsolete": "", "replace_id": "" }, "HP:0011666": { "name": [ "absent right superior vena cava", "absent right superior vena cava" ], "alt_id": [], "def": "Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium.", "synonym": [], "xref": [ "SNOMEDCT_US:253308005", "UMLS:C0344656" ], "is_a": [ "HP:0005301" ], "is_obsolete": "", "replace_id": "" }, "HP:0011667": { "name": [ "bilateral superior vena cava with bridging vein", "bilateral superior vena cava with bridging vein" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023240" ], "is_a": [ "HP:0033379" ], "is_obsolete": "", "replace_id": "" }, "HP:0011668": { "name": [ "bilateral superior vena cava with no bridging vein", "bilateral superior vena cava with no bridging vein" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023239" ], "is_a": [ "HP:0033379" ], "is_obsolete": "", "replace_id": "" }, "HP:0011669": { "name": [ "left superior vena cava draining directly to the left atrium", "leave superior vena cava drain directly to the left atrium" ], "alt_id": [], "def": "A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt.", "synonym": [], "xref": [ "UMLS:C4023238" ], "is_a": [ "HP:0033379" ], "is_obsolete": "", "replace_id": "" }, "HP:0011670": { "name": [ "left superior vena cava draining to coronary sinus", "leave superior vena cava drain to coronary sinus" ], "alt_id": [], "def": "A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.", "synonym": [], "xref": [ "ICD-10:Q26.1", "UMLS:C2677768" ], "is_a": [ "HP:0033379" ], "is_obsolete": "", "replace_id": "" }, "HP:0011671": { "name": [ "interrupted inferior vena cava with azygous continuation", "interrupt inferior vena cava with azygous continuation" ], "alt_id": [], "def": "Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.", "synonym": [], "xref": [ "ICD-10:26.8", "UMLS:C4023237" ], "is_a": [ "HP:0025576" ], "is_obsolete": "", "replace_id": "" }, "HP:0011672": { "name": [ "cardiac myxoma", "cardiac myxoma" ], "alt_id": [], "def": "A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber.", "synonym": [], "xref": [ "NCIT:C6577", "SNOMEDCT_US:426191007", "UMLS:C1960546" ], "is_a": [ "HP:0100544" ], "is_obsolete": "", "replace_id": "" }, "HP:0011673": { "name": [ "cardiac hemangioma", "cardiac hemangioma" ], "alt_id": [], "def": "Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.", "synonym": [], "xref": [ "NCIT:C3085", "UMLS:C1707298" ], "is_a": [ "HP:0410266" ], "is_obsolete": "", "replace_id": "" }, "HP:0011674": { "name": [ "cardiac teratoma", "cardiac teratoma" ], "alt_id": [], "def": "A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone.", "synonym": [], "xref": [ "NCIT:C3403", "UMLS:C1112387" ], "is_a": [ "HP:0009792", "HP:0100544" ], "is_obsolete": "", "replace_id": "" }, "HP:0011675": { "name": [ "arrhythmia", "arrhythmia" ], "alt_id": [ "HP:0001656", "HP:0001661", "HP:0001665", "HP:0001666", "HP:0001675", "HP:0001687", "HP:0001721", "HP:0004351", "HP:0005158" ], "def": "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.", "synonym": [ [ "abnormal heart rate", "abnormal heart rate" ], [ "arrhythmias", "arrhythmia" ], [ "cardiac arrhythmia", "cardiac arrhythmia" ], [ "cardiac arrhythmias", "cardiac arrhythmia" ], [ "cardiac rhythm disturbances", "cardiac rhythm disturbance" ], [ "heart rhythm disorders", "heart rhythm disorder" ], [ "irregular heart beat", "irregular heart beat" ], [ "irregular heartbeat", "irregular heartbeat" ] ], "xref": [ "MSH:C562490", "MSH:D001145", "SNOMEDCT_US:102594003", "SNOMEDCT_US:44808001", "SNOMEDCT_US:698247007", "UMLS:C0003811", "UMLS:C0264886", "UMLS:C0522055", "UMLS:C0855329", "UMLS:C1832603", "UMLS:C1842820" ], "is_a": [ "HP:0030956" ], "is_obsolete": "", "replace_id": "" }, "HP:0011676": { "name": [ "tetralogy of fallot with absent subarterial conus", "tetralogy of fallot with absent subarterial conus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023236" ], "is_a": [ "HP:0001636" ], "is_obsolete": "", "replace_id": "" }, "HP:0011677": { "name": [ "tetralogy of fallot with atrioventricular canal defect", "tetralogy of fallot with atrioventricular canal defect" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023235" ], "is_a": [ "HP:0001636" ], "is_obsolete": "", "replace_id": "" }, "HP:0011678": { "name": [ "tetralogy of fallot with pulmonary atresia and major aortopulmonary collateral arteries", "tetralogy of fallot with pulmonary atresia and major aortopulmonary collateral artery" ], "alt_id": [], "def": "A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA).", "synonym": [], "xref": [ "UMLS:C4023234" ], "is_a": [ "HP:0012516" ], "is_obsolete": "", "replace_id": "" }, "HP:0011679": { "name": [ "tetralogy of fallot with pulmonary stenosis", "tetralogy of fallot with pulmonary stenosis" ], "alt_id": [], "def": "The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.", "synonym": [], "xref": [ "SNOMEDCT_US:253512000", "UMLS:C0344881" ], "is_a": [ "HP:0001636" ], "is_obsolete": "", "replace_id": "" }, "HP:0011680": { "name": [ "single ventricle of indeterminate morphology", "single ventricle of indeterminate morphology" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023233" ], "is_a": [ "HP:0001750" ], "is_obsolete": "", "replace_id": "" }, "HP:0011681": { "name": [ "subarterial ventricular septal defect", "subarterial ventricular septal defect" ], "alt_id": [], "def": "A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.", "synonym": [ [ "conal ventricular septal defect", "conal ventricular septal defect" ], [ "doubly committed ventricular septal defect", "doubly commit ventricular septal defect" ], [ "infundibular ventricular septal defect", "infundibular ventricular septal defect" ], [ "supracristal ventricular septal defect", "supracristal ventricular septal defect" ], [ "type 1 ventricular septal defect", "type 1 ventricular septal defect" ] ], "xref": [ "Fyler:1330", "SNOMEDCT_US:448876006", "UMLS:C3165130" ], "is_a": [ "HP:0001629" ], "is_obsolete": "", "replace_id": "" }, "HP:0011682": { "name": [ "perimembranous ventricular septal defect", "perimembranous ventricular septal defect" ], "alt_id": [], "def": "A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.", "synonym": [ [ "conoventricular ventricular septal defect", "conoventricular ventricular septal defect" ], [ "membranous ventricular septal defect", "membranous ventricular septal defect" ], [ "paramembranous ventricular septal defect", "paramembranous ventricular septal defect" ], [ "perimembraneous ventricular septal defect", "perimembraneous ventricular septal defect" ], [ "type 2 ventricular septal defect", "type 2 ventricular septal defect" ], [ "ventricular septal defect , perimembranous", "ventricular septal defect , perimembranous" ] ], "xref": [ "Fyler:1310", "SNOMEDCT_US:109428005", "UMLS:C0344925" ], "is_a": [ "HP:0001629" ], "is_obsolete": "", "replace_id": "" }, "HP:0011683": { "name": [ "restrictive ventricular septal defect", "restrictive ventricular septal defect" ], "alt_id": [], "def": "Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD.", "synonym": [], "xref": [ "SNOMEDCT_US:253551005", "UMLS:C0344924" ], "is_a": [ "HP:0001629" ], "is_obsolete": "", "replace_id": "" }, "HP:0011684": { "name": [ "non - restrictive ventricular septal defect", "non - restrictive ventricular septal defect" ], "alt_id": [], "def": "Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD.", "synonym": [], "xref": [ "SNOMEDCT_US:373131000", "UMLS:C1298817" ], "is_a": [ "HP:0001629" ], "is_obsolete": "", "replace_id": "" }, "HP:0011685": { "name": [ "infra - aortic superior vena cava", "infra - aortic superior vena cava" ], "alt_id": [], "def": "The superior vena cava passes below the aortic arch.", "synonym": [], "xref": [ "UMLS:C4023232" ], "is_a": [ "HP:0025575" ], "is_obsolete": "", "replace_id": "" }, "HP:0011686": { "name": [ "abnormal coronary artery course", "abnormal coronary artery course" ], "alt_id": [], "def": "An abnormal path of a coronary artery.", "synonym": [ [ "anomalous coronary artery course", "anomalous coronary artery course" ] ], "xref": [ "SNOMEDCT_US:253714001", "UMLS:C0345122" ], "is_a": [ "HP:0006704" ], "is_obsolete": "", "replace_id": "" }, "HP:0011687": { "name": [ "av nodal tachycardia", "av nodal tachycardia" ], "alt_id": [], "def": "A type of supraventricular tachycardia that originates in the atrioventricular node.", "synonym": [ [ "atrioventricular nodal tachycardia", "atrioventricular nodal tachycardia" ], [ "av nodal tachycardia", "av nodal tachycardia" ] ], "xref": [ "UMLS:C0857265" ], "is_a": [ "HP:0004755" ], "is_obsolete": "", "replace_id": "" }, "HP:0011688": { "name": [ "supraventricular tachycardia with an accessory connection mediated pathway", "supraventricular tachycardia with an accessory connection mediate pathway" ], "alt_id": [], "def": "Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism.", "synonym": [ [ "atrioventricular re - entry tachycardia", "atrioventricular re - entry tachycardia" ], [ "supraventricular tachycardia with an accessory connexion mediated pathway", "supraventricular tachycardia with an accessory connexion mediate pathway" ] ], "xref": [ "UMLS:C4021132" ], "is_a": [ "HP:0004755" ], "is_obsolete": "", "replace_id": "" }, "HP:0011689": { "name": [ "supraventricular tachycardia with a concealed accessory connection", "supraventricular tachycardia with a concealed accessory connection" ], "alt_id": [], "def": "Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm.", "synonym": [ [ "supraventricular tachycardia with a concealed accessory connexion", "supraventricular tachycardia with a concealed accessory connexion" ] ], "xref": [ "UMLS:C4023231" ], "is_a": [ "HP:0011688" ], "is_obsolete": "", "replace_id": "" }, "HP:0011690": { "name": [ "permanent junctional reciprocating tachycardia", "permanent junctional reciprocating tachycardia" ], "alt_id": [], "def": "An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction.", "synonym": [], "xref": [ "SNOMEDCT_US:233904005", "UMLS:C0340483" ], "is_a": [ "HP:0011689" ], "is_obsolete": "", "replace_id": "" }, "HP:0011691": { "name": [ "supraventricular tachycardia with a concealed accessory pathway on the left free wall", "supraventricular tachycardia with a concealed accessory pathway on the left free wall" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023230" ], "is_a": [ "HP:0011689" ], "is_obsolete": "", "replace_id": "" }, "HP:0011692": { "name": [ "supraventricular tachycardia with a concealed accessory pathway on the right free wall", "supraventricular tachycardia with a concealed accessory pathway on the right free wall" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023229" ], "is_a": [ "HP:0011689" ], "is_obsolete": "", "replace_id": "" }, "HP:0011693": { "name": [ "supraventricular tachycardia with a concealed accessory pathway on the septum", "supraventricular tachycardia with a concealed accessory pathway on the septum" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023228" ], "is_a": [ "HP:0011689" ], "is_obsolete": "", "replace_id": "" }, "HP:0011694": { "name": [ "supraventricular tachycardia with a manifest accessory pathway", "supraventricular tachycardia with a manifest accessory pathway" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023227" ], "is_a": [ "HP:0011688" ], "is_obsolete": "", "replace_id": "" }, "HP:0011695": { "name": [ "cerebellar hemorrhage", "cerebellar hemorrhage" ], "alt_id": [], "def": "Hemorrhage into the parenchyma of the cerebellum.", "synonym": [ [ "cerebellar haemorrhage", "cerebellar haemorrhage" ] ], "xref": [ "SNOMEDCT_US:75038005", "UMLS:C0149854" ], "is_a": [ "HP:0002170" ], "is_obsolete": "", "replace_id": "" }, "HP:0011696": { "name": [ "supraventricular tachycardia with a manifest accessory pathway on the left free wall", "supraventricular tachycardia with a manifest accessory pathway on the left free wall" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023226" ], "is_a": [ "HP:0011694" ], "is_obsolete": "", "replace_id": "" }, "HP:0011697": { "name": [ "supraventricular tachycardia with a manifest accessory pathway on the right free wall", "supraventricular tachycardia with a manifest accessory pathway on the right free wall" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023225" ], "is_a": [ "HP:0011694" ], "is_obsolete": "", "replace_id": "" }, "HP:0011698": { "name": [ "supraventricular tachycardia with a manifest accessory pathway on the septum", "supraventricular tachycardia with a manifest accessory pathway on the septum" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023224" ], "is_a": [ "HP:0011694" ], "is_obsolete": "", "replace_id": "" }, "HP:0011699": { "name": [ "atrial reentry tachycardia", "atrial reentry tachycardia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023223" ], "is_a": [ "HP:0001692" ], "is_obsolete": "", "replace_id": "" }, "HP:0011700": { "name": [ "automatic atrial tachycardia", "automatic atrial tachycardia" ], "alt_id": [], "def": "Chronic supraventricular tachycardia predominantly seen in childhood.", "synonym": [], "xref": [ "MSH:D013612", "SNOMEDCT_US:233892002", "UMLS:C0039234" ], "is_a": [ "HP:0001692" ], "is_obsolete": "", "replace_id": "" }, "HP:0011701": { "name": [ "multifocal atrial tachycardia", "multifocal atrial tachycardia" ], "alt_id": [], "def": "Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.", "synonym": [ [ "chaotic atrial tachycardia", "chaotic atrial tachycardia" ], [ "ectopic atrial tachycardia", "ectopic atrial tachycardia" ] ], "xref": [ "SNOMEDCT_US:49982000", "UMLS:C0221158" ], "is_a": [ "HP:0001692" ], "is_obsolete": "", "replace_id": "" }, "HP:0011702": { "name": [ "abnormal electrophysiology of sinoatrial node origin", "abnormal electrophysiology of sinoatrial node origin" ], "alt_id": [], "def": "An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.", "synonym": [], "xref": [ "Fyler:7010", "UMLS:C4023222" ], "is_a": [ "HP:0011675" ], "is_obsolete": "", "replace_id": "" }, "HP:0011703": { "name": [ "sinus tachycardia", "sinus tachycardia" ], "alt_id": [], "def": "Heart rate of greater than 100 beats per minute.", "synonym": [ [ "sinus tach", "sinus tach" ], [ "sinus tachy", "sinus tachy" ] ], "xref": [ "MSH:D013616", "SNOMEDCT_US:11092001", "UMLS:C0039239" ], "is_a": [ "HP:0011702" ], "is_obsolete": "", "replace_id": "" }, "HP:0011704": { "name": [ "sick sinus syndrome", "sick sinus syndrome" ], "alt_id": [], "def": "An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.", "synonym": [ [ "sinoatrial node disease", "sinoatrial node disease" ] ], "xref": [ "MSH:D012804", "SNOMEDCT_US:36083008", "UMLS:C0037052" ], "is_a": [ "HP:0011702", "HP:0012722" ], "is_obsolete": "", "replace_id": "" }, "HP:0011705": { "name": [ "first degree atrioventricular block", "first degree atrioventricular block" ], "alt_id": [], "def": "Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.", "synonym": [], "xref": [ "SNOMEDCT_US:270492004", "UMLS:C0085614" ], "is_a": [ "HP:0001678" ], "is_obsolete": "", "replace_id": "" }, "HP:0011706": { "name": [ "second degree atrioventricular block", "second degree atrioventricular block" ], "alt_id": [], "def": "An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction.", "synonym": [], "xref": [ "SNOMEDCT_US:195042002", "UMLS:C0264906" ], "is_a": [ "HP:0001678" ], "is_obsolete": "", "replace_id": "" }, "HP:0011707": { "name": [ "mobitz i atrioventricular block", "mobitz i atrioventricular block" ], "alt_id": [], "def": "Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals).", "synonym": [ [ "mobitz type 1 atrioventricular block", "mobitz type 1 atrioventricular block" ], [ "wenckebach block", "wenckebach block" ] ], "xref": [ "SNOMEDCT_US:54016002", "UMLS:C0264907" ], "is_a": [ "HP:0011706" ], "is_obsolete": "", "replace_id": "" }, "HP:0011708": { "name": [ "mobitz ii atrioventricular block", "mobitz ii atrioventricular block" ], "alt_id": [], "def": "A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval.", "synonym": [ [ "mobitz type 2 atrioventricular block", "mobitz type 2 atrioventricular block" ] ], "xref": [ "SNOMEDCT_US:28189009", "UMLS:C0155700" ], "is_a": [ "HP:0011706" ], "is_obsolete": "", "replace_id": "" }, "HP:0011709": { "name": [ "atrioventricular dissociation", "atrioventricular dissociation" ], "alt_id": [], "def": "Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance.", "synonym": [], "xref": [ "MSH:D006327", "SNOMEDCT_US:50799005", "UMLS:C0004331" ], "is_a": [ "HP:0005150" ], "is_obsolete": "", "replace_id": "" }, "HP:0011710": { "name": [ "bundle branch block", "bundle branch block" ], "alt_id": [], "def": "Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.", "synonym": [ [ "bundle - branch block", "bundle - branch block" ] ], "xref": [ "MSH:D002037", "SNOMEDCT_US:6374002", "UMLS:C0006384" ], "is_a": [ "HP:0012722" ], "is_obsolete": "", "replace_id": "" }, "HP:0011711": { "name": [ "left anterior fascicular block", "leave anterior fascicular block" ], "alt_id": [], "def": "Conduction block in the anterior division of the left bundle branch of the bundle of His.", "synonym": [ [ "left anterior hemiblock", "leave anterior hemiblock" ] ], "xref": [ "SNOMEDCT_US:37760005", "UMLS:C0264912" ], "is_a": [ "HP:0011713" ], "is_obsolete": "", "replace_id": "" }, "HP:0011712": { "name": [ "right bundle branch block", "right bundle branch block" ], "alt_id": [], "def": "A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.", "synonym": [ [ "right bundle - branch block", "right bundle - branch block" ] ], "xref": [ "MSH:D002037", "SNOMEDCT_US:59118001", "UMLS:C0085615" ], "is_a": [ "HP:0011710" ], "is_obsolete": "", "replace_id": "" }, "HP:0011713": { "name": [ "left bundle branch block", "leave bundle branch block" ], "alt_id": [], "def": "A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.", "synonym": [], "xref": [ "MSH:D002037", "SNOMEDCT_US:63467002", "UMLS:C0023211" ], "is_a": [ "HP:0011710" ], "is_obsolete": "", "replace_id": "" }, "HP:0011714": { "name": [ "libman - sacks lesions", "libman - sack lesion" ], "alt_id": [], "def": "Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve.", "synonym": [], "xref": [ "UMLS:C4023221" ], "is_a": [ "HP:0100584" ], "is_obsolete": "", "replace_id": "" }, "HP:0011715": { "name": [ "trifascicular block", "trifascicular block" ], "alt_id": [], "def": "Abnormal conduction in all three divisions of the intraventricular conducting tissue.", "synonym": [], "xref": [ "SNOMEDCT_US:86014007", "UMLS:C0155707" ], "is_a": [ "HP:0011710" ], "is_obsolete": "", "replace_id": "" }, "HP:0011716": { "name": [ "junctional ectopic tachycardia", "junctional ectopic tachycardia" ], "alt_id": [], "def": "Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern.", "synonym": [], "xref": [ "MSH:D013613", "SNOMEDCT_US:233901002", "SNOMEDCT_US:419166005", "UMLS:C0039235" ], "is_a": [ "HP:0011687" ], "is_obsolete": "", "replace_id": "" }, "HP:0011717": { "name": [ "atrioventricular reentrant tachycardia", "atrioventricular reentrant tachycardia" ], "alt_id": [], "def": "Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove.", "synonym": [ [ "av nodal reentry tachycardia", "av nodal reentry tachycardia" ] ], "xref": [ "UMLS:C4023220" ], "is_a": [ "HP:0011687" ], "is_obsolete": "", "replace_id": "" }, "HP:0011718": { "name": [ "abnormality of the pulmonary veins", "abnormality of the pulmonary vein" ], "alt_id": [], "def": "An abnormality of the pulmonary veins.", "synonym": [ [ "abnormality of lung veins", "abnormality of lung vein" ] ], "xref": [ "SNOMEDCT_US:111322000", "SNOMEDCT_US:128585006", "SNOMEDCT_US:199113001", "UMLS:C0265914" ], "is_a": [ "HP:0004930" ], "is_obsolete": "", "replace_id": "" }, "HP:0011719": { "name": [ "supracardiac total anomalous pulmonary venous connection", "supracardiac total anomalous pulmonary venous connection" ], "alt_id": [], "def": "Type 1 total anomalous pulmonary venous connection.", "synonym": [ [ "supracardiac total anomalous pulmonary venous connexion", "supracardiac total anomalous pulmonary venous connexion" ], [ "total anomalous pulmonary venous connection , supracardiac", "total anomalous pulmonary venous connection , supracardiac" ], [ "type 1 total anomalous pulmonary venous connection", "type 1 total anomalous pulmonary venous connection" ] ], "xref": [ "Fyler:0910", "Fyler:910", "UMLS:C4021131" ], "is_a": [ "HP:0005160" ], "is_obsolete": "", "replace_id": "" }, "HP:0011720": { "name": [ "cardiac total anomalous pulmonary venous connection", "cardiac total anomalous pulmonary venous connection" ], "alt_id": [], "def": "Type 2 total anomalous pulmonary venous connection.", "synonym": [ [ "cardiac total anomalous pulmonary venous connexion", "cardiac total anomalous pulmonary venous connexion" ], [ "total anomalous pulmonary venous connection , intracardiac", "total anomalous pulmonary venous connection , intracardiac" ], [ "type 2 total anomalous pulmonary venous connection", "type 2 total anomalous pulmonary venous connection" ] ], "xref": [ "Fyler:0920", "Fyler:0930", "Fyler:920", "Fyler:930", "UMLS:C4021130" ], "is_a": [ "HP:0005160" ], "is_obsolete": "", "replace_id": "" }, "HP:0011721": { "name": [ "infracardiac total anomalous pulmonary venous connection", "infracardiac total anomalous pulmonary venous connection" ], "alt_id": [], "def": "Type 3 total anomalous pulmonary venous connection.", "synonym": [ [ "infracardiac total anomalous pulmonary venous connexion", "infracardiac total anomalous pulmonary venous connexion" ], [ "type 3 total anomalous pulmonary venous connection", "type 3 total anomalous pulmonary venous connection" ] ], "xref": [ "UMLS:C4021129" ], "is_a": [ "HP:0005160" ], "is_obsolete": "", "replace_id": "" }, "HP:0011722": { "name": [ "mixed total anomalous pulmonary venous connection", "mixed total anomalous pulmonary venous connection" ], "alt_id": [], "def": "Type 4 total anomalous pulmonary venous connection.", "synonym": [ [ "mixed total anomalous pulmonary venous connexion", "mixed total anomalous pulmonary venous connexion" ], [ "total anomalous pulmonary venous connection , mixed", "total anomalous pulmonary venous connection , mixed" ], [ "type 4 total anomalous pulmonary venous connection", "type 4 total anomalous pulmonary venous connection" ] ], "xref": [ "Fyler:0950", "Fyler:950", "UMLS:C4021128" ], "is_a": [ "HP:0005160" ], "is_obsolete": "", "replace_id": "" }, "HP:0011723": { "name": [ "congenital malformation of the right heart", "congenital malformation of the right heart" ], "alt_id": [], "def": "Defect or defects of the morphogenesis of the right heart identifiable at birth.", "synonym": [], "xref": [ "UMLS:C4023219" ], "is_a": [ "HP:0001627" ], "is_obsolete": "", "replace_id": "" }, "HP:0011724": { "name": [ "uhl 's anomaly", "uhl 's anomaly" ], "alt_id": [], "def": "Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium.", "synonym": [], "xref": [ "MSH:C536932", "SNOMEDCT_US:2829000", "UMLS:C0265857" ], "is_a": [ "HP:0011723" ], "is_obsolete": "", "replace_id": "" }, "HP:0011725": { "name": [ "chaotic multifocal atrial tachycardia", "chaotic multifocal atrial tachycardia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023218" ], "is_a": [ "HP:0001692" ], "is_obsolete": "", "replace_id": "" }, "HP:0011726": { "name": [ "persistent fetal circulation", "persistent fetal circulation" ], "alt_id": [], "def": "Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course.", "synonym": [ [ "persistent foetal circulation", "persistent foetal circulation" ] ], "xref": [ "MSH:D010547", "SNOMEDCT_US:206597007", "SNOMEDCT_US:233815004", "SNOMEDCT_US:35604006", "UMLS:C0031190" ], "is_a": [ "HP:0010948" ], "is_obsolete": "", "replace_id": "" }, "HP:0011727": { "name": [ "peroneal muscle weakness", "peroneal muscle weakness" ], "alt_id": [], "def": "Weakness of the peroneal muscles.", "synonym": [ [ "fibularis muscle weakness", "fibularis muscle weakness" ] ], "xref": [ "UMLS:C0240733" ], "is_a": [ "HP:0009053" ], "is_obsolete": "", "replace_id": "" }, "HP:0011728": { "name": [ "elbow clonus", "elbow clonus" ], "alt_id": [], "def": "Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint.", "synonym": [], "xref": [ "UMLS:C4023217" ], "is_a": [ "HP:0002169" ], "is_obsolete": "", "replace_id": "" }, "HP:0011729": { "name": [ "abnormality of joint mobility", "abnormality of joint mobility" ], "alt_id": [], "def": "An abnormality in the range and ease of motion of joints across their normal range.", "synonym": [], "xref": [ "UMLS:C4023216" ], "is_a": [ "HP:0011843" ], "is_obsolete": "", "replace_id": "" }, "HP:0011730": { "name": [ "abnormal central sensory function", "abnormal central sensory function" ], "alt_id": [], "def": "An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord.", "synonym": [ [ "abnormality of central sensory function", "abnormality of central sensory function" ] ], "xref": [ "UMLS:C4023215" ], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0011731": { "name": [ "abnormality of circulating cortisol level", "abnormality of circulate cortisol level" ], "alt_id": [], "def": "An abnormality of the concentration of cortisol in the blood.", "synonym": [], "xref": [ "UMLS:C4023214" ], "is_a": [ "HP:0012111" ], "is_obsolete": "", "replace_id": "" }, "HP:0011732": { "name": [ "abnormality of adrenal morphology", "abnormality of adrenal morphology" ], "alt_id": [], "def": "Any structural anomaly of the adrenal glands.", "synonym": [], "xref": [ "UMLS:C4023213" ], "is_a": [ "HP:0000834", "HP:0031071" ], "is_obsolete": "", "replace_id": "" }, "HP:0011733": { "name": [ "abnormality of adrenal physiology", "abnormality of adrenal physiology" ], "alt_id": [ "HP:0002855" ], "def": "A functional abnormality of the adrenal glands.", "synonym": [], "xref": [ "UMLS:C4023212" ], "is_a": [ "HP:0000834" ], "is_obsolete": "", "replace_id": "" }, "HP:0011734": { "name": [ "central adrenal insufficiency", "central adrenal insufficiency" ], "alt_id": [], "def": "A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected.", "synonym": [ [ "secondary adrenal insufficiency", "secondary adrenal insufficiency" ] ], "xref": [ "UMLS:C0948387" ], "is_a": [ "HP:0000846" ], "is_obsolete": "", "replace_id": "" }, "HP:0011735": { "name": [ "adrenocorticotropin deficient adrenal insufficiency", "adrenocorticotropin deficient adrenal insufficiency" ], "alt_id": [], "def": "Adrenal insufficiency secondary to a defect in ACTH production.", "synonym": [ [ "acth deficient adrenal insufficiency", "acth deficient adrenal insufficiency" ] ], "xref": [ "UMLS:C4023211" ], "is_a": [ "HP:0011734" ], "is_obsolete": "", "replace_id": "" }, "HP:0011736": { "name": [ "primary hyperaldosteronism", "primary hyperaldosteronism" ], "alt_id": [], "def": "A form of hyperaldosteronism caused by a defect within the adrenal gland.", "synonym": [], "xref": [ "MSH:D006929", "SNOMEDCT_US:190507007", "SNOMEDCT_US:258117004", "UMLS:C1384514" ], "is_a": [ "HP:0000859" ], "is_obsolete": "", "replace_id": "" }, "HP:0011737": { "name": [ "corticotropin - releasing hormone deficient adrenal insufficiency", "corticotropin - release hormone deficient adrenal insufficiency" ], "alt_id": [], "def": "Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production.", "synonym": [ [ "crh deficient adrenal insufficiency", "crh deficient adrenal insufficiency" ], [ "tertiary adrenal insufficiency", "tertiary adrenal insufficiency" ] ], "xref": [ "UMLS:C4021127" ], "is_a": [ "HP:0011734" ], "is_obsolete": "", "replace_id": "" }, "HP:0011738": { "name": [ "corticotropin - releasing hormone receptor defect", "corticotropin - release hormone receptor defect" ], "alt_id": [], "def": "Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor.", "synonym": [ [ "corticotropin - releasing hormone receptor ( crhr ) resistance", "corticotropin - release hormone receptor ( crhr ) resistance" ], [ "crhr defect", "crhr defect" ] ], "xref": [ "UMLS:C4020745", "UMLS:C4023210" ], "is_a": [ "HP:0011734" ], "is_obsolete": "", "replace_id": "" }, "HP:0011739": { "name": [ "dexamethasone - suppressible primary hyperaldosteronism", "dexamethasone - suppressible primary hyperaldosteronism" ], "alt_id": [], "def": "A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.", "synonym": [ [ "familial primary hyperaldosteronism type 1", "familial primary hyperaldosteronism type 1" ], [ "glucocorticoid - remediable familial primary aldosteronism", "glucocorticoid - remediable familial primary aldosteronism" ] ], "xref": [ "UMLS:C4020743", "UMLS:C4020744", "UMLS:C4023209" ], "is_a": [ "HP:0011736" ], "is_obsolete": "", "replace_id": "" }, "HP:0011740": { "name": [ "glucocortocoid - insensitive primary hyperaldosteronism", "glucocortocoid - insensitive primary hyperaldosteronism" ], "alt_id": [], "def": "A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.", "synonym": [ [ "familial primary hyperaldosteronism type 2", "familial primary hyperaldosteronism type 2" ] ], "xref": [ "UMLS:C4020742", "UMLS:C4023208" ], "is_a": [ "HP:0011736" ], "is_obsolete": "", "replace_id": "" }, "HP:0011741": { "name": [ "secondary hyperaldosteronism", "secondary hyperaldosteronism" ], "alt_id": [], "def": "A form of hyperaldosteronism caused by abnormally increased renin levels.", "synonym": [ [ "hyperreninemic hyperaldosteronism", "hyperreninemic hyperaldosteronism" ] ], "xref": [ "SNOMEDCT_US:67805000", "UMLS:C0271728" ], "is_a": [ "HP:0000859" ], "is_obsolete": "", "replace_id": "" }, "HP:0011742": { "name": [ "ectopic adrenal gland", "ectopic adrenal gland" ], "alt_id": [], "def": "Abnormal anatomical location of the adrenal gland.", "synonym": [ [ "abnormal adrenal gland position", "abnormal adrenal gland position" ] ], "xref": [ "SNOMEDCT_US:49494003", "UMLS:C0266275" ], "is_a": [ "HP:0011732" ], "is_obsolete": "", "replace_id": "" }, "HP:0011743": { "name": [ "adrenal gland agenesis", "adrenal gland agenesis" ], "alt_id": [], "def": "Absent development of the adrenal gland.", "synonym": [], "xref": [ "MSH:C538429", "SNOMEDCT_US:702615004", "SNOMEDCT_US:83190008", "UMLS:C0266273" ], "is_a": [ "HP:0008216" ], "is_obsolete": "", "replace_id": "" }, "HP:0011744": { "name": [ "secondary hypercortisolism", "secondary hypercortisolism" ], "alt_id": [], "def": "Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol.", "synonym": [ [ "acth - dependent hypercortisolemia", "acth - dependent hypercortisolemia" ] ], "xref": [ "UMLS:C4020741", "UMLS:C4023207" ], "is_a": [ "HP:0003118" ], "is_obsolete": "", "replace_id": "" }, "HP:0011745": { "name": [ "non - secretory adrenocortical adenoma", "non - secretory adrenocortical adenoma" ], "alt_id": [], "def": "An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones.", "synonym": [ [ "non - secretory adrenal adenoma", "non - secretory adrenal adenoma" ] ], "xref": [ "UMLS:C4021126" ], "is_a": [ "HP:0008256" ], "is_obsolete": "", "replace_id": "" }, "HP:0011746": { "name": [ "secretory adrenocortical adenoma", "secretory adrenocortical adenoma" ], "alt_id": [], "def": "An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.", "synonym": [ [ "secretory adrenal adenoma", "secretory adrenal adenoma" ] ], "xref": [ "UMLS:C4021125" ], "is_a": [ "HP:0008256" ], "is_obsolete": "", "replace_id": "" }, "HP:0011747": { "name": [ "abnormality of the anterior pituitary", "abnormality of the anterior pituitary" ], "alt_id": [], "def": "An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.", "synonym": [ [ "pituitary disease", "pituitary disease" ] ], "xref": [ "MSH:D010900", "SNOMEDCT_US:399244003", "UMLS:C0032002", "UMLS:C4023206" ], "is_a": [ "HP:0012503" ], "is_obsolete": "", "replace_id": "" }, "HP:0011748": { "name": [ "adrenocorticotropic hormone deficiency", "adrenocorticotropic hormone deficiency" ], "alt_id": [], "def": "A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol.", "synonym": [ [ "acth deficiency", "acth deficiency" ], [ "corticotropin deficiency", "corticotropin deficiency" ] ], "xref": [ "MSH:C535668", "SNOMEDCT_US:237692001", "UMLS:C0342388" ], "is_a": [ "HP:0000830" ], "is_obsolete": "", "replace_id": "" }, "HP:0011749": { "name": [ "adrenocorticotropic hormone excess", "adrenocorticotropic hormone excess" ], "alt_id": [], "def": "Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.", "synonym": [ [ "acth excess", "acth excess" ] ], "xref": [ "UMLS:C4021124" ], "is_a": [ "HP:0010514" ], "is_obsolete": "", "replace_id": "" }, "HP:0011750": { "name": [ "neoplasm of the anterior pituitary", "neoplasm of the anterior pituitary" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.", "synonym": [ [ "neoplasm of the adenohypophysis", "neoplasm of the adenohypophysis" ], [ "neoplasm of the pars anterior", "neoplasm of the par anterior" ] ], "xref": [ "NCIT:C3262", "UMLS:C4023205" ], "is_a": [ "HP:0011747", "HP:0040277" ], "is_obsolete": "", "replace_id": "" }, "HP:0011751": { "name": [ "abnormality of the posterior pituitary", "abnormality of the posterior pituitary" ], "alt_id": [], "def": "An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.", "synonym": [ [ "abnormality of the neurohypophysis", "abnormality of the neurohypophysis" ] ], "xref": [ "UMLS:C4023204" ], "is_a": [ "HP:0012503" ], "is_obsolete": "", "replace_id": "" }, "HP:0011752": { "name": [ "neoplasm of the posterior pituitary", "neoplasm of the posterior pituitary" ], "alt_id": [], "def": "The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis.", "synonym": [ [ "neoplasm of the neurohypophysis", "neoplasm of the neurohypophysis" ] ], "xref": [ "NCIT:C3262", "UMLS:C1334957" ], "is_a": [ "HP:0011751" ], "is_obsolete": "", "replace_id": "" }, "HP:0011753": { "name": [ "posterior pituitary dysgenesis", "posterior pituitary dysgenesis" ], "alt_id": [], "def": "Abnormal development of the neurohypophysis during embryonic growth and development.", "synonym": [ [ "neurohypophysis dysplasia", "neurohypophysis dysplasia" ], [ "posterior pituitary dysplasia", "posterior pituitary dysplasia" ] ], "xref": [ "UMLS:C4021123" ], "is_a": [ "HP:0011751" ], "is_obsolete": "", "replace_id": "" }, "HP:0011754": { "name": [ "pituicytoma", "pituicytoma" ], "alt_id": [], "def": "A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern.", "synonym": [], "xref": [ "ICD-O:9432/1 \"Pituicytoma\"", "SNOMEDCT_US:450901008", "SNOMEDCT_US:608817003", "UMLS:C2986550" ], "is_a": [ "HP:0011752" ], "is_obsolete": "", "replace_id": "" }, "HP:0011755": { "name": [ "ectopic posterior pituitary", "ectopic posterior pituitary" ], "alt_id": [], "def": "An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.", "synonym": [ [ "ectopic neurohypophysis", "ectopic neurohypophysis" ] ], "xref": [ "SNOMEDCT_US:715727009", "UMLS:C3279571", "UMLS:C4053775" ], "is_a": [ "HP:0011753" ], "is_obsolete": "", "replace_id": "" }, "HP:0011756": { "name": [ "posterior pituitary agenesis", "posterior pituitary agenesis" ], "alt_id": [], "def": "Absence of the neurohypophysis owing to a developmental defect.", "synonym": [ [ "neurohypophysis agenesis", "neurohypophysis agenesis" ] ], "xref": [ "UMLS:C4023203" ], "is_a": [ "HP:0011753" ], "is_obsolete": "", "replace_id": "" }, "HP:0011757": { "name": [ "posterior pituitary hypoplasia", "posterior pituitary hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the neurohypophysis.", "synonym": [ [ "neurohypophysis hypoplasia", "neurohypophysis hypoplasia" ] ], "xref": [ "UMLS:C4023202" ], "is_a": [ "HP:0011753" ], "is_obsolete": "", "replace_id": "" }, "HP:0011758": { "name": [ "pituitary acidophilic stem cell adenoma", "pituitary acidophilic stem cell adenoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023201" ], "is_a": [ "HP:0002893" ], "is_obsolete": "", "replace_id": "" }, "HP:0011759": { "name": [ "pituitary gonadotropic cell adenoma", "pituitary gonadotropic cell adenoma" ], "alt_id": [], "def": "A type of pituitary adenoma that produces gonadotropins.", "synonym": [ [ "pituitary gonadotropinoma", "pituitary gonadotropinoma" ] ], "xref": [ "UMLS:C4021122" ], "is_a": [ "HP:0002893" ], "is_obsolete": "", "replace_id": "" }, "HP:0011760": { "name": [ "pituitary growth hormone cell adenoma", "pituitary growth hormone cell adenoma" ], "alt_id": [], "def": "A type of pituitary adenoma that produces growth hormone.", "synonym": [ [ "pituitary somatotropinoma", "pituitary somatotropinoma" ] ], "xref": [ "UMLS:C4018860" ], "is_a": [ "HP:0002893" ], "is_obsolete": "", "replace_id": "" }, "HP:0011761": { "name": [ "pituitary null cell adenoma", "pituitary null cell adenoma" ], "alt_id": [], "def": "A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess.", "synonym": [ [ "clinically silent pituitary adenoma", "clinically silent pituitary adenoma" ], [ "hormonally silent pituitary adenoma", "hormonally silent pituitary adenoma" ], [ "non - functional pituitary adenoma", "non - functional pituitary adenoma" ], [ "silent pituitary adenoma", "silent pituitary adenoma" ] ], "xref": [ "SNOMEDCT_US:254962005", "UMLS:C0338078" ], "is_a": [ "HP:0002893" ], "is_obsolete": "", "replace_id": "" }, "HP:0011762": { "name": [ "pituitary thyrotropic cell adenoma", "pituitary thyrotropic cell adenoma" ], "alt_id": [], "def": "A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).", "synonym": [ [ "pituitary thyrotropinoma", "pituitary thyrotropinoma" ] ], "xref": [ "UMLS:C4021121" ], "is_a": [ "HP:0002893" ], "is_obsolete": "", "replace_id": "" }, "HP:0011763": { "name": [ "pituitary carcinoma", "pituitary carcinoma" ], "alt_id": [], "def": "A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS.", "synonym": [], "xref": [ "MSH:D010911", "SNOMEDCT_US:128665000", "SNOMEDCT_US:254955001", "UMLS:C0346300" ], "is_a": [ "HP:0011750" ], "is_obsolete": "", "replace_id": "" }, "HP:0011764": { "name": [ "pituitary spindle cell oncocytoma", "pituitary spindle cell oncocytoma" ], "alt_id": [], "def": "A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular.", "synonym": [], "xref": [ "UMLS:C4023200" ], "is_a": [ "HP:0011750" ], "is_obsolete": "", "replace_id": "" }, "HP:0011765": { "name": [ "obsolete ectopic anterior pituitary", "obsolete ectopic anterior pituitary" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0012731" }, "HP:0011766": { "name": [ "abnormality of the parathyroid morphology", "abnormality of the parathyroid morphology" ], "alt_id": [], "def": "A structural abnormality of the parathyroid gland.", "synonym": [], "xref": [ "UMLS:C4023199" ], "is_a": [ "HP:0000828" ], "is_obsolete": "", "replace_id": "" }, "HP:0011767": { "name": [ "abnormality of the parathyroid physiology", "abnormality of the parathyroid physiology" ], "alt_id": [], "def": "A functional abnormality of the parathyroid gland.", "synonym": [ [ "parathyroid dysfunction", "parathyroid dysfunction" ], [ "parathyroid issue", "parathyroid issue" ] ], "xref": [ "UMLS:C4023198" ], "is_a": [ "HP:0000828" ], "is_obsolete": "", "replace_id": "" }, "HP:0011768": { "name": [ "parathyroid dysgenesis", "parathyroid dysgenesis" ], "alt_id": [], "def": "Abnormal embryonic development of the parathyroid gland.", "synonym": [], "xref": [ "UMLS:C4023197" ], "is_a": [ "HP:0011766" ], "is_obsolete": "", "replace_id": "" }, "HP:0011769": { "name": [ "ectopic parathyroid", "ectopic parathyroid" ], "alt_id": [], "def": "An abnormal anatomical location of the parathyroid gland.", "synonym": [], "xref": [ "UMLS:C4023196" ], "is_a": [ "HP:0011768" ], "is_obsolete": "", "replace_id": "" }, "HP:0011770": { "name": [ "tertiary hyperparathyroidism", "tertiary hyperparathyroidism" ], "alt_id": [], "def": "A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism.", "synonym": [], "xref": [ "SNOMEDCT_US:78200003", "UMLS:C0271858" ], "is_a": [ "HP:0000843" ], "is_obsolete": "", "replace_id": "" }, "HP:0011771": { "name": [ "autoimmune hypoparathyroidism", "autoimmune hypoparathyroidism" ], "alt_id": [], "def": "A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity.", "synonym": [], "xref": [ "SNOMEDCT_US:75316000", "UMLS:C0271865" ], "is_a": [ "HP:0000829" ], "is_obsolete": "", "replace_id": "" }, "HP:0011772": { "name": [ "abnormal thyroid morphology", "abnormal thyroid morphology" ], "alt_id": [], "def": "A structural abnormality of the thyroid gland.", "synonym": [ [ "abnormal shape of thyroid gland", "abnormal shape of thyroid gland" ], [ "abnormality of thyroid morphology", "abnormality of thyroid morphology" ] ], "xref": [ "UMLS:C4023195" ], "is_a": [ "HP:0000820" ], "is_obsolete": "", "replace_id": "" }, "HP:0011773": { "name": [ "uninodular goiter", "uninodular goiter" ], "alt_id": [], "def": "Enlargement of the thyroid gland related to a singular nodule in the thyroid gland.", "synonym": [ [ "uninodular goitre", "uninodular goitre" ] ], "xref": [ "SNOMEDCT_US:237569006", "UMLS:C0342205" ], "is_a": [ "HP:0005994" ], "is_obsolete": "", "replace_id": "" }, "HP:0011774": { "name": [ "thyroid follicular adenoma", "thyroid follicular adenoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D013964", "SNOMEDCT_US:255033000", "SNOMEDCT_US:255034006", "UMLS:C0151468" ], "is_a": [ "HP:0000854" ], "is_obsolete": "", "replace_id": "" }, "HP:0011775": { "name": [ "thyroid macrofollicular adenoma", "thyroid macrofollicular adenoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023194" ], "is_a": [ "HP:0011774" ], "is_obsolete": "", "replace_id": "" }, "HP:0011776": { "name": [ "thyroid microfollicular adenoma", "thyroid microfollicular adenoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023193" ], "is_a": [ "HP:0011774" ], "is_obsolete": "", "replace_id": "" }, "HP:0011777": { "name": [ "thyroid papillary adenoma", "thyroid papillary adenoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023192" ], "is_a": [ "HP:0000854" ], "is_obsolete": "", "replace_id": "" }, "HP:0011778": { "name": [ "thyroid atypical adenoma", "thyroid atypical adenoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023191" ], "is_a": [ "HP:0000854" ], "is_obsolete": "", "replace_id": "" }, "HP:0011779": { "name": [ "anaplastic thyroid carcinoma", "anaplastic thyroid carcinoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D065646", "SNOMEDCT_US:255031003", "UMLS:C0238461" ], "is_a": [ "HP:0002890" ], "is_obsolete": "", "replace_id": "" }, "HP:0011780": { "name": [ "thyroid hemiagenesis", "thyroid hemiagenesis" ], "alt_id": [], "def": "Absence of a lobe of the thyroid gland related to a failure of its embryologic development.", "synonym": [], "xref": [ "SNOMEDCT_US:715734006", "UMLS:C4023190" ], "is_a": [ "HP:0033079" ], "is_obsolete": "", "replace_id": "" }, "HP:0011781": { "name": [ "thyroid c cell hyperplasia", "thyroid c cell hyperplasia" ], "alt_id": [], "def": "An abnormal growth of parafollicular (C-cells) cells.", "synonym": [], "xref": [ "SNOMEDCT_US:237552009", "UMLS:C0342190" ], "is_a": [ "HP:0008249" ], "is_obsolete": "", "replace_id": "" }, "HP:0011782": { "name": [ "thyroid crisis", "thyroid crisis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D013958", "SNOMEDCT_US:29028009", "UMLS:C0040127" ], "is_a": [ "HP:0000836" ], "is_obsolete": "", "replace_id": "" }, "HP:0011783": { "name": [ "thyrotoxicosis from ectopic thyroid tissue", "thyrotoxicosis from ectopic thyroid tissue" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:87232008", "UMLS:C0154148" ], "is_a": [ "HP:0000836" ], "is_obsolete": "", "replace_id": "" }, "HP:0011784": { "name": [ "thyrotoxicosis with diffuse goiter", "thyrotoxicosis with diffuse goiter" ], "alt_id": [], "def": "", "synonym": [ [ "thyrotoxicosis with diffuse goitre", "thyrotoxicosis with diffuse goitre" ] ], "xref": [ "SNOMEDCT_US:267374005", "UMLS:C0342122" ], "is_a": [ "HP:0000836" ], "is_obsolete": "", "replace_id": "" }, "HP:0011785": { "name": [ "thyrotoxicosis with toxic multinodular goiter", "thyrotoxicosis with toxic multinodular goiter" ], "alt_id": [], "def": "", "synonym": [ [ "thyrotoxicosis with toxic multinodular goitre", "thyrotoxicosis with toxic multinodular goitre" ] ], "xref": [ "SNOMEDCT_US:26389007", "UMLS:C0154143" ], "is_a": [ "HP:0000836" ], "is_obsolete": "", "replace_id": "" }, "HP:0011786": { "name": [ "thyrotoxicosis with toxic single thyroid nodule", "thyrotoxicosis with toxic single thyroid nodule" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:69329005", "SNOMEDCT_US:73869005", "UMLS:C0154141" ], "is_a": [ "HP:0000836" ], "is_obsolete": "", "replace_id": "" }, "HP:0011787": { "name": [ "central hypothyroidism", "central hypothyroidism" ], "alt_id": [], "def": "A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.", "synonym": [], "xref": [ "SNOMEDCT_US:26692000", "UMLS:C0271801" ], "is_a": [ "HP:0000821" ], "is_obsolete": "", "replace_id": "" }, "HP:0011788": { "name": [ "increased circulating free t3", "increase circulate free t3" ], "alt_id": [], "def": "An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.", "synonym": [ [ "increased circulating free triiodothyronine", "increase circulate free triiodothyronine" ], [ "increased serum free t3", "increase serum free t3" ], [ "increased serum free triiodothyronine", "increase serum free triiodothyronine" ], [ "increased serum ft3", "increase serum ft3" ] ], "xref": [ "UMLS:C4021843" ], "is_a": [ "HP:0032209" ], "is_obsolete": "", "replace_id": "" }, "HP:0011789": { "name": [ "impaired sensitivity to thyroid stimulating hormone", "impaired sensitivity to thyroid stimulate hormone" ], "alt_id": [], "def": "Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).", "synonym": [ [ "thyroid - stimulating hormone receptor defect", "thyroid - stimulate hormone receptor defect" ], [ "tshr defect", "tshr defect" ] ], "xref": [ "UMLS:C4023189" ], "is_a": [ "HP:0002926" ], "is_obsolete": "", "replace_id": "" }, "HP:0011790": { "name": [ "activating thyroid - stimulating hormone receptor defect", "activate thyroid - stimulate hormone receptor defect" ], "alt_id": [], "def": "Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.", "synonym": [ [ "activating tshr defect", "activate tshr defect" ] ], "xref": [ "UMLS:C4023188" ], "is_a": [ "HP:0011789" ], "is_obsolete": "", "replace_id": "" }, "HP:0011791": { "name": [ "inactivating thyroid - stimulating hormone receptor defect", "inactivate thyroid - stimulate hormone receptor defect" ], "alt_id": [], "def": "Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect.", "synonym": [ [ "inactivating tshr defect", "inactivate tshr defect" ] ], "xref": [ "UMLS:C4023187" ], "is_a": [ "HP:0011789" ], "is_obsolete": "", "replace_id": "" }, "HP:0011792": { "name": [ "neoplasm by histology", "neoplasm by histology" ], "alt_id": [], "def": "Neoplasm categorized according to type of histological abnormality.", "synonym": [], "xref": [ "UMLS:C4023186" ], "is_a": [ "HP:0002664" ], "is_obsolete": "", "replace_id": "" }, "HP:0011793": { "name": [ "neoplasm by anatomical site", "neoplasm by anatomical site" ], "alt_id": [], "def": "Neoplasm categorized according to the anatomical site of origin of the neoplasm.", "synonym": [], "xref": [ "UMLS:C4023185" ], "is_a": [ "HP:0002664" ], "is_obsolete": "", "replace_id": "" }, "HP:0011794": { "name": [ "embryonal renal neoplasm", "embryonal renal neoplasm" ], "alt_id": [], "def": "The presence of an embryonal neoplasm of the kidney that primarily affects children.", "synonym": [], "xref": [ "UMLS:C4023184" ], "is_a": [ "HP:0002898", "HP:0009726" ], "is_obsolete": "", "replace_id": "" }, "HP:0011795": { "name": [ "intralobar nephroblastomatosis", "intralobar nephroblastomatosis" ], "alt_id": [], "def": "Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it).", "synonym": [], "xref": [ "SNOMEDCT_US:405934001", "UMLS:C1319016" ], "is_a": [ "HP:0008643" ], "is_obsolete": "", "replace_id": "" }, "HP:0011796": { "name": [ "perilobar nephroblastomatosis", "perilobar nephroblastomatosis" ], "alt_id": [], "def": "Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar).", "synonym": [], "xref": [ "SNOMEDCT_US:405935000", "UMLS:C1319017" ], "is_a": [ "HP:0008643" ], "is_obsolete": "", "replace_id": "" }, "HP:0011797": { "name": [ "papillary renal cell carcinoma type 1", "papillary renal cell carcinoma type 1" ], "alt_id": [], "def": "A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli.", "synonym": [], "xref": [ "UMLS:C1336839" ], "is_a": [ "HP:0006766" ], "is_obsolete": "", "replace_id": "" }, "HP:0011798": { "name": [ "renal oncocytoma", "renal oncocytoma" ], "alt_id": [], "def": "A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm.", "synonym": [], "xref": [ "MSH:C537750", "SNOMEDCT_US:254922006", "UMLS:C0346255" ], "is_a": [ "HP:0009726" ], "is_obsolete": "", "replace_id": "" }, "HP:0011799": { "name": [ "abnormality of facial soft tissue", "abnormality of facial soft tissue" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of facial soft tissue", "abnormality of facial soft tissue" ], [ "anomaly of facial soft tissue", "anomaly of facial soft tissue" ], [ "deformity of facial soft tissue", "deformity of facial soft tissue" ], [ "malformation of facial soft tissue", "malformation of facial soft tissue" ] ], "xref": [ "UMLS:C4023183" ], "is_a": [ "HP:0000271" ], "is_obsolete": "", "replace_id": "" }, "HP:0011800": { "name": [ "midface retrusion", "midface retrusion" ], "alt_id": [ "HP:0040199" ], "def": "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.", "synonym": [ [ "decreased projection of midface", "decreased projection of midface" ], [ "decreased size of midface", "decreased size of midface" ], [ "flat midface", "flat midface" ], [ "hypoplasia of midface", "hypoplasia of midface" ], [ "hypotrophic midface", "hypotrophic midface" ], [ "midface deficiency", "midface deficiency" ], [ "midface hypoplasia", "midface hypoplasia" ], [ "midface retrusion", "midface retrusion" ], [ "midface , flat", "midface , flat" ], [ "retrusive midface", "retrusive midface" ], [ "small midface", "small midface" ], [ "underdevelopment of midface", "underdevelopment of midface" ] ], "xref": [ "UMLS:C1853242", "UMLS:C2673410", "UMLS:C4280320", "UMLS:C4280321" ], "is_a": [ "HP:0000309" ], "is_obsolete": "", "replace_id": "" }, "HP:0011801": { "name": [ "enlargement of parotid gland", "enlargement of parotid gland" ], "alt_id": [], "def": "Increased size of the parotid gland.", "synonym": [ [ "hyperplasia of parotid gland", "hyperplasia of parotid gland" ], [ "hypertrophy of parotid gland", "hypertrophy of parotid gland" ], [ "increased size of parotid gland", "increase size of parotid gland" ] ], "xref": [ "SNOMEDCT_US:29748005", "UMLS:C0341047" ], "is_a": [ "HP:0000197" ], "is_obsolete": "", "replace_id": "" }, "HP:0011802": { "name": [ "hamartoma of tongue", "hamartoma of tongue" ], "alt_id": [], "def": "A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.", "synonym": [ [ "lingual hamartoma", "lingual hamartoma" ] ], "xref": [ "SNOMEDCT_US:253753005", "UMLS:C0431565" ], "is_a": [ "HP:0100648" ], "is_obsolete": "", "replace_id": "" }, "HP:0011803": { "name": [ "bifid nose", "bifid nose" ], "alt_id": [], "def": "Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.", "synonym": [ [ "bifid nasal bridge", "bifid nasal bridge" ], [ "cleft nasal bridge", "cleft nasal bridge" ], [ "cleft nose", "cleft nose" ], [ "indentation or clefting of the nose", "indentation or clefting of the nose" ], [ "indented bridge of nose", "indent bridge of nose" ] ], "xref": [ "MSH:C535441", "SNOMEDCT_US:204521002", "UMLS:C0221363", "UMLS:C4280318", "UMLS:C4280319" ], "is_a": [ "HP:0004122" ], "is_obsolete": "", "replace_id": "" }, "HP:0011804": { "name": [ "abnormal muscle physiology", "abnormal muscle physiology" ], "alt_id": [], "def": "A functional abnormality of a skeletal muscle.", "synonym": [ [ "abnormality of muscle physiology", "abnormality of muscle physiology" ], [ "issue with muscle function", "issue with muscle function" ] ], "xref": [ "UMLS:C4023182" ], "is_a": [ "HP:0003011" ], "is_obsolete": "", "replace_id": "" }, "HP:0011805": { "name": [ "abnormal skeletal muscle morphology", "abnormal skeletal muscle morphology" ], "alt_id": [ "HP:0003735" ], "def": "A structural abnormality of a skeletal muscle.", "synonym": [ [ "abnormal muscle morphology", "abnormal muscle morphology" ], [ "abnormality of muscle morphology", "abnormality of muscle morphology" ], [ "abnormally shaped muscle", "abnormally shaped muscle" ], [ "issue with muscle structure", "issue with muscle structure" ] ], "xref": [ "UMLS:C4023181" ], "is_a": [ "HP:0003011" ], "is_obsolete": "", "replace_id": "" }, "HP:0011807": { "name": [ "type 1 muscle fiber atrophy", "type 1 muscle fiber atrophy" ], "alt_id": [], "def": "Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy.", "synonym": [ [ "type 1 muscle fibre atrophy", "type 1 muscle fibre atrophy" ] ], "xref": [ "UMLS:C4023180" ], "is_a": [ "HP:0100295" ], "is_obsolete": "", "replace_id": "" }, "HP:0011808": { "name": [ "decreased patellar reflex", "decrease patellar reflex" ], "alt_id": [], "def": "Decreased intensity of the patellar reflex (also known as the knee jerk reflex).", "synonym": [ [ "decreased knee jerk reflex", "decrease knee jerk reflex" ], [ "decreased patellar reflexes", "decrease patellar reflex" ] ], "xref": [ "UMLS:C3277184" ], "is_a": [ "HP:0002600" ], "is_obsolete": "", "replace_id": "" }, "HP:0011809": { "name": [ "paradoxical myotonia", "paradoxical myotonia" ], "alt_id": [], "def": "A type of myotonia that worsens with repeated muscle contractions.", "synonym": [], "xref": [ "UMLS:C4023179" ], "is_a": [ "HP:0002486" ], "is_obsolete": "", "replace_id": "" }, "HP:0011810": { "name": [ "impaired two - point discrimination", "impaired two - point discrimination" ], "alt_id": [], "def": "A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart.", "synonym": [], "xref": [ "UMLS:C4023178" ], "is_a": [ "HP:0011730" ], "is_obsolete": "", "replace_id": "" }, "HP:0011811": { "name": [ "impaired touch localization", "impaired touch localization" ], "alt_id": [], "def": "A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip.", "synonym": [ [ "impaired topognosis", "impaired topognosis" ], [ "impaired touch localisation", "impaired touch localisation" ] ], "xref": [ "UMLS:C4021120" ], "is_a": [ "HP:0011730" ], "is_obsolete": "", "replace_id": "" }, "HP:0011812": { "name": [ "agraphesthesia", "agraphesthesia" ], "alt_id": [], "def": "Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination).", "synonym": [], "xref": [ "UMLS:C1328618" ], "is_a": [ "HP:0011730" ], "is_obsolete": "", "replace_id": "" }, "HP:0011813": { "name": [ "increased cerebral lipofuscin", "increase cerebral lipofuscin" ], "alt_id": [], "def": "Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.", "synonym": [], "xref": [ "UMLS:C4023177" ], "is_a": [ "HP:0007367" ], "is_obsolete": "", "replace_id": "" }, "HP:0011814": { "name": [ "increased urinary hypoxanthine", "increase urinary hypoxanthine" ], "alt_id": [], "def": "An increased level of hypoxanthine in the urine.", "synonym": [], "xref": [ "UMLS:C3810487" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0011815": { "name": [ "cephalocele", "cephalocele" ], "alt_id": [], "def": "A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect.", "synonym": [], "xref": [ "MSH:D004677", "SNOMEDCT_US:253101008", "SNOMEDCT_US:48777005", "SNOMEDCT_US:55999004", "UMLS:C0014065" ], "is_a": [ "HP:0000929" ], "is_obsolete": "", "replace_id": "" }, "HP:0011816": { "name": [ "parietal encephalocele", "parietal encephalocele" ], "alt_id": [], "def": "An encephalocele located between bregma and lambda.", "synonym": [], "xref": [ "SNOMEDCT_US:253109005", "UMLS:C0431294" ], "is_a": [ "HP:0002084" ], "is_obsolete": "", "replace_id": "" }, "HP:0011817": { "name": [ "basal encephalocele", "basal encephalocele" ], "alt_id": [], "def": "Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares.", "synonym": [], "xref": [ "UMLS:C4023176" ], "is_a": [ "HP:0002084" ], "is_obsolete": "", "replace_id": "" }, "HP:0011818": { "name": [ "nasofrontal encephalocele", "nasofrontal encephalocele" ], "alt_id": [], "def": "", "synonym": [ [ "naso - frontal encephalocele", "naso - frontal encephalocele" ] ], "xref": [ "SNOMEDCT_US:253106003", "UMLS:C0431291" ], "is_a": [ "HP:0007330" ], "is_obsolete": "", "replace_id": "" }, "HP:0011819": { "name": [ "submucous cleft soft palate", "submucous cleft soft palate" ], "alt_id": [], "def": "A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.", "synonym": [ [ "partial thickness cleft soft palate", "partial thickness cleft soft palate" ], [ "submucous cleft velum", "submucous cleft velum" ] ], "xref": [ "UMLS:C4023175" ], "is_a": [ "HP:0000185" ], "is_obsolete": "", "replace_id": "" }, "HP:0011820": { "name": [ "membranous choanal atresia", "membranous choanal atresia" ], "alt_id": [], "def": "Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike.", "synonym": [], "xref": [ "UMLS:C4023174" ], "is_a": [ "HP:0000453" ], "is_obsolete": "", "replace_id": "" }, "HP:0011821": { "name": [ "abnormality of facial skeleton", "abnormality of facial skeleton" ], "alt_id": [], "def": "An abnormality of one or more of the set of bones that make up the facial skeleton.", "synonym": [ [ "abnormality of facial bones", "abnormality of facial bone" ], [ "abnormality of facial skeleton", "abnormality of facial skeleton" ], [ "anomaly of facial bones", "anomaly of facial bone" ], [ "anomaly of facial skeleton", "anomaly of facial skeleton" ], [ "deformity of facial skeleton", "deformity of facial skeleton" ], [ "deformity of the facial bones", "deformity of the facial bone" ], [ "malformation of facial bones", "malformation of facial bone" ], [ "malformation of facial skeleton", "malformation of facial skeleton" ] ], "xref": [ "SNOMEDCT_US:433096001", "UMLS:C2315229" ], "is_a": [ "HP:0000929" ], "is_obsolete": "", "replace_id": "" }, "HP:0011822": { "name": [ "broad chin", "broad chin" ], "alt_id": [], "def": "Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue.", "synonym": [ [ "broad chin", "broad chin" ], [ "increased width of chin", "increase width of chin" ], [ "increased width of menton region", "increase width of menton region" ], [ "wide chin", "wide chin" ] ], "xref": [ "UMLS:C4023172" ], "is_a": [ "HP:0000306" ], "is_obsolete": "", "replace_id": "" }, "HP:0011823": { "name": [ "chin with horizontal crease", "chin with horizontal crease" ], "alt_id": [], "def": "Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.", "synonym": [ [ "chin with horizontal crease", "chin with horizontal crease" ], [ "chin with horizontal furrow", "chin with horizontal furrow" ], [ "chin with horizontal groove", "chin with horizontal groove" ], [ "chin with horizontal sulcus", "chin with horizontal sulcus" ], [ "horizontal chin skin cleft", "horizontal chin skin cleft" ], [ "horizontal menton crease", "horizontal menton crease" ] ], "xref": [ "UMLS:C4023171" ], "is_a": [ "HP:0000306" ], "is_obsolete": "", "replace_id": "" }, "HP:0011824": { "name": [ "chin with h - shaped crease", "chin with h - shape crease" ], "alt_id": [], "def": "H-shaped crease in the fat pad of the chin.", "synonym": [ [ "chin with h - shaped crease", "chin with h - shape crease" ], [ "chin , h - shaped crease", "chin , h - shaped crease" ], [ "chin , h - shaped groove", "chin , h - shape groove" ], [ "h - shaped dimple of the chin", "h - shaped dimple of the chin" ] ], "xref": [ "UMLS:C1860309" ], "is_a": [ "HP:0000306" ], "is_obsolete": "", "replace_id": "" }, "HP:0011825": { "name": [ "tented philtrum", "tent philtrum" ], "alt_id": [], "def": "Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.", "synonym": [ [ "philtrum , tented", "philtrum , tent" ] ], "xref": [ "UMLS:C4021119" ], "is_a": [ "HP:0000288" ], "is_obsolete": "", "replace_id": "" }, "HP:0011826": { "name": [ "philtrum with midline raphe", "philtrum with midline raphe" ], "alt_id": [], "def": "Narrow ridge in the midline of the philtral groove.", "synonym": [ [ "philtrum with central raphe", "philtrum with central raphe" ], [ "philtrum with midline ridge", "philtrum with midline ridge" ], [ "philtrum , midline raphe", "philtrum , midline raphe" ] ], "xref": [ "UMLS:C4021118" ], "is_a": [ "HP:0000288" ], "is_obsolete": "", "replace_id": "" }, "HP:0011827": { "name": [ "malaligned philtral ridges", "malaligned philtral ridge" ], "alt_id": [], "def": "Absence of the usual parallel position of philtral ridges.", "synonym": [ [ "asymmetric philtral columns", "asymmetric philtral column" ], [ "asymmetric philtral ridges", "asymmetric philtral ridge" ], [ "malaligned philtral columns", "malaligned philtral column" ], [ "philtral ridges , malaligned", "philtral ridge , malaligned" ] ], "xref": [ "UMLS:C4021117" ], "is_a": [ "HP:0000288" ], "is_obsolete": "", "replace_id": "" }, "HP:0011828": { "name": [ "midline sinus of philtrum", "midline sinus of philtrum" ], "alt_id": [], "def": "Pit in the midline of the philtral groove.", "synonym": [ [ "central sinus of philtrum", "central sinus of philtrum" ], [ "philtrum , midline sinus", "philtrum , midline sinus" ] ], "xref": [ "UMLS:C4021116" ], "is_a": [ "HP:0000288" ], "is_obsolete": "", "replace_id": "" }, "HP:0011829": { "name": [ "narrow philtrum", "narrow philtrum" ], "alt_id": [], "def": "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum.", "synonym": [ [ "decreased breadth of philtrum", "decrease breadth of philtrum" ], [ "decreased horizontal dimension of philtrum", "decrease horizontal dimension of philtrum" ], [ "decreased transverse dimension of philtrum", "decreased transverse dimension of philtrum" ], [ "decreased width of philtrum", "decrease width of philtrum" ], [ "philtrum , narrow", "philtrum , narrow" ], [ "thin philtrum", "thin philtrum" ] ], "xref": [ "UMLS:C4021115" ], "is_a": [ "HP:0000288" ], "is_obsolete": "", "replace_id": "" }, "HP:0011830": { "name": [ "abnormal oral mucosa morphology", "abnormal oral mucosa morphology" ], "alt_id": [], "def": "Abnormality of the oral mucosa.", "synonym": [ [ "abnormality of lining of mouth", "abnormality of lining of mouth" ], [ "abnormality of mucosa of mouth", "abnormality of mucosa of mouth" ], [ "abnormality of oral mucosa", "abnormality of oral mucosa" ], [ "abnormality of oral mucous membrane", "abnormality of oral mucous membrane" ] ], "xref": [ "UMLS:C4023170" ], "is_a": [ "HP:0000163" ], "is_obsolete": "", "replace_id": "" }, "HP:0011831": { "name": [ "deviated nasal tip", "deviate nasal tip" ], "alt_id": [], "def": "Nasal tip positioned to one side of the midline.", "synonym": [ [ "asymmetry of nasal tip", "asymmetry of nasal tip" ], [ "asymmetry of tip of nose", "asymmetry of tip of nose" ], [ "crooked nasal tip", "crook nasal tip" ], [ "crooked tip of nose", "crooked tip of nose" ], [ "deviated nasal tip", "deviate nasal tip" ], [ "deviated tip of nose", "deviate tip of nose" ], [ "distortion of the nasal tip", "distortion of the nasal tip" ], [ "nasal tip , deviated", "nasal tip , deviate" ] ], "xref": [ "UMLS:C4021114", "UMLS:C4280271" ], "is_a": [ "HP:0000436" ], "is_obsolete": "", "replace_id": "" }, "HP:0011832": { "name": [ "narrow nasal tip", "narrow nasal tip" ], "alt_id": [], "def": "Decrease in width of the nasal tip.", "synonym": [ [ "narrow nasal tip", "narrow nasal tip" ], [ "narrow tip of nose", "narrow tip of nose" ], [ "nasal tip , narrow", "nasal tip , narrow" ], [ "nasal tip , pinched", "nasal tip , pinch" ], [ "pinched nasal tip", "pinch nasal tip" ], [ "pinched tip of nose", "pinch tip of nose" ], [ "thin nasal tip", "thin nasal tip" ], [ "thin tip of nose", "thin tip of nose" ] ], "xref": [ "SNOMEDCT_US:249331008", "UMLS:C0426433" ], "is_a": [ "HP:0000436" ], "is_obsolete": "", "replace_id": "" }, "HP:0011833": { "name": [ "overhanging nasal tip", "overhang nasal tip" ], "alt_id": [], "def": "Positioning of the nasal tip inferior to the nasal base.", "synonym": [ [ "drooping nasal tip", "droop nasal tip" ], [ "hooked tip of nose", "hooked tip of nose" ], [ "low hanging nasal tip", "low hang nasal tip" ], [ "nasal tip , overhanging", "nasal tip , overhang" ], [ "overhanging nasal tip", "overhang nasal tip" ] ], "xref": [ "SNOMEDCT_US:249328007", "UMLS:C0426430" ], "is_a": [ "HP:0000436" ], "is_obsolete": "", "replace_id": "" }, "HP:0011834": { "name": [ "moyamoya phenomenon", "moyamoya phenomenon" ], "alt_id": [], "def": "A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.", "synonym": [], "xref": [ "UMLS:C4023169" ], "is_a": [ "HP:0009145" ], "is_obsolete": "", "replace_id": "" }, "HP:0011835": { "name": [ "absent scaphoid", "absent scaphoid" ], "alt_id": [], "def": "Congenital absence of the scaphoid..", "synonym": [ [ "absent scaphoid bone", "absent scaphoid bone" ], [ "missing scaphoid bone", "miss scaphoid bone" ] ], "xref": [ "UMLS:C1847189" ], "is_a": [ "HP:0004231" ], "is_obsolete": "", "replace_id": "" }, "HP:0011836": { "name": [ "delayed talus ossification", "delay talus ossification" ], "alt_id": [], "def": "Delayed maturation and calcification of the talus.", "synonym": [], "xref": [ "UMLS:C4023168" ], "is_a": [ "HP:0008365", "HP:0008369" ], "is_obsolete": "", "replace_id": "" }, "HP:0011837": { "name": [ "partial iga deficiency", "partial iga deficiency" ], "alt_id": [], "def": "Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means.", "synonym": [], "xref": [ "UMLS:C4023167" ], "is_a": [ "HP:0002720" ], "is_obsolete": "", "replace_id": "" }, "HP:0011838": { "name": [ "sclerodactyly", "sclerodactyly" ], "alt_id": [], "def": "Localized thickening and tightness of the skin of the fingers or toes.", "synonym": [], "xref": [ "ICD-10:L94.3 \"Sclerodactyly\"", "SNOMEDCT_US:201051000", "SNOMEDCT_US:298285004", "UMLS:C0150988" ], "is_a": [ "HP:0001072" ], "is_obsolete": "", "replace_id": "" }, "HP:0011839": { "name": [ "abnormal t cell count", "abnormal t cell count" ], "alt_id": [], "def": "A deviation from the normal count of T cells.", "synonym": [ [ "abnormal number of t cells", "abnormal number of t cell" ], [ "abnormality of t cell number", "abnormality of t cell number" ] ], "xref": [ "UMLS:C4021113" ], "is_a": [ "HP:0002843", "HP:0040088" ], "is_obsolete": "", "replace_id": "" }, "HP:0011840": { "name": [ "abnormality of t cell physiology", "abnormality of t cell physiology" ], "alt_id": [ "HP:0005402" ], "def": "A functional anomaly of T cells.", "synonym": [], "xref": [ "UMLS:C4023166" ], "is_a": [ "HP:0031409" ], "is_obsolete": "", "replace_id": "" }, "HP:0011841": { "name": [ "ventricular flutter", "ventricular flutter" ], "alt_id": [], "def": "A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance.", "synonym": [], "xref": [ "MSH:D054141", "SNOMEDCT_US:111288001", "UMLS:C0152173" ], "is_a": [ "HP:0004756" ], "is_obsolete": "", "replace_id": "" }, "HP:0011842": { "name": [ "abnormality of skeletal morphology", "abnormality of skeletal morphology" ], "alt_id": [], "def": "An abnormality of the form, structure, or size of the skeletal system.", "synonym": [ [ "abnormally shaped skeletal", "abnormally shape skeletal" ] ], "xref": [ "UMLS:C4023165" ], "is_a": [ "HP:0000924" ], "is_obsolete": "", "replace_id": "" }, "HP:0011843": { "name": [ "abnormality of musculoskeletal physiology", "abnormality of musculoskeletal physiology" ], "alt_id": [], "def": "An abnormality of the function of the skeletal system.", "synonym": [], "xref": [ "UMLS:C4023164" ], "is_a": [ "HP:0000924" ], "is_obsolete": "", "replace_id": "" }, "HP:0011844": { "name": [ "abnormal appendicular skeleton morphology", "abnormal appendicular skeleton morphology" ], "alt_id": [], "def": "An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.", "synonym": [], "xref": [ "UMLS:C4023163" ], "is_a": [ "HP:0011842" ], "is_obsolete": "", "replace_id": "" }, "HP:0011845": { "name": [ "short second metatarsal", "short second metatarsal" ], "alt_id": [], "def": "Short (hypoplastic) second metatarsal bone.", "synonym": [ [ "short 2nd long bone of foot", "short 2nd long bone of foot" ] ], "xref": [ "UMLS:C4023162" ], "is_a": [ "HP:0010743", "HP:0040034" ], "is_obsolete": "", "replace_id": "" }, "HP:0011846": { "name": [ "osteoblastoma", "osteoblastoma" ], "alt_id": [], "def": "A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue.", "synonym": [], "xref": [ "MSH:D018215", "SNOMEDCT_US:55333008", "UMLS:C0029417" ], "is_a": [ "HP:0010622" ], "is_obsolete": "", "replace_id": "" }, "HP:0011847": { "name": [ "giant cell tumor of bone", "giant cell tumor of bone" ], "alt_id": [], "def": "A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts.", "synonym": [ [ "giant cell tumour of bone", "giant cell tumour of bone" ] ], "xref": [ "MSH:D018212", "SNOMEDCT_US:57500000", "SNOMEDCT_US:697970009", "UMLS:C0206638" ], "is_a": [ "HP:0010622" ], "is_obsolete": "", "replace_id": "" }, "HP:0011848": { "name": [ "abdominal colic", "abdominal colic" ], "alt_id": [], "def": "A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.", "synonym": [], "xref": [ "MSH:D003085", "SNOMEDCT_US:9991008", "UMLS:C0232488" ], "is_a": [ "HP:0002027" ], "is_obsolete": "", "replace_id": "" }, "HP:0011849": { "name": [ "abnormal bone ossification", "abnormal bone ossification" ], "alt_id": [], "def": "Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.", "synonym": [ [ "abnormal bone maturation", "abnormal bone maturation" ] ], "xref": [ "MP:0008271 \"Abnormal bone ossification\"", "UMLS:C4023161", "UMLS:C4280317" ], "is_a": [ "HP:0003330" ], "is_obsolete": "", "replace_id": "" }, "HP:0011850": { "name": [ "parotitis", "parotitis" ], "alt_id": [], "def": "Inflammation of the parotid gland.", "synonym": [], "xref": [ "MSH:D010309", "SNOMEDCT_US:14756005", "UMLS:C0030583" ], "is_a": [ "HP:0000197" ], "is_obsolete": "", "replace_id": "" }, "HP:0011851": { "name": [ "hemopericardium", "hemopericardium" ], "alt_id": [], "def": "Accumulation of blood within the pericardial sac.", "synonym": [], "xref": [ "MSH:D010490", "SNOMEDCT_US:23412002", "UMLS:C0019064" ], "is_a": [ "HP:0001698" ], "is_obsolete": "", "replace_id": "" }, "HP:0011852": { "name": [ "chylopericardium", "chylopericardium" ], "alt_id": [], "def": "Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct.", "synonym": [], "xref": [ "MSH:D010490", "SNOMEDCT_US:233890005", "UMLS:C0242426" ], "is_a": [ "HP:0001698" ], "is_obsolete": "", "replace_id": "" }, "HP:0011853": { "name": [ "serous pericardial effusion", "serous pericardial effusion" ], "alt_id": [], "def": "Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac.", "synonym": [], "xref": [ "UMLS:C4023160" ], "is_a": [ "HP:0001698" ], "is_obsolete": "", "replace_id": "" }, "HP:0011854": { "name": [ "hemoperitoneum", "hemoperitoneum" ], "alt_id": [], "def": "Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.", "synonym": [ [ "hematoperitoneum", "hematoperitoneum" ] ], "xref": [ "MSH:D006465", "SNOMEDCT_US:443826006", "SNOMEDCT_US:45626005", "UMLS:C0019065", "UMLS:C0744735" ], "is_a": [ "HP:0002585" ], "is_obsolete": "", "replace_id": "" }, "HP:0011855": { "name": [ "pharyngeal edema", "pharyngeal edema" ], "alt_id": [], "def": "Abnormal accumulation of fluid leading to swelling of the pharynx.", "synonym": [ [ "pharyngeal oedema", "pharyngeal oedema" ], [ "swollen throat", "swell throat" ], [ "throat swelling", "throat swell" ] ], "xref": [ "SNOMEDCT_US:2129002", "UMLS:C0236024" ], "is_a": [ "HP:0000969", "HP:0033151" ], "is_obsolete": "", "replace_id": "" }, "HP:0011856": { "name": [ "pica", "pica" ], "alt_id": [], "def": "An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month.", "synonym": [], "xref": [ "MSH:D010842", "SNOMEDCT_US:14077003", "UMLS:C0031873" ], "is_a": [ "HP:0100738" ], "is_obsolete": "", "replace_id": "" }, "HP:0011857": { "name": [ "plasmacytoma", "plasmacytoma" ], "alt_id": [], "def": "A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location.", "synonym": [], "xref": [ "MSH:D010954", "SNOMEDCT_US:10639003", "SNOMEDCT_US:415112005", "UMLS:C0032131" ], "is_a": [ "HP:0004377" ], "is_obsolete": "", "replace_id": "" }, "HP:0011858": { "name": [ "reduced factor ix activity", "reduce factor ix activity" ], "alt_id": [], "def": "Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.", "synonym": [ [ "low factor ix activity", "low factor ix activity" ] ], "xref": [ "UMLS:C4023159" ], "is_a": [ "HP:0033062" ], "is_obsolete": "", "replace_id": "" }, "HP:0011859": { "name": [ "punctate keratitis", "punctate keratitis" ], "alt_id": [], "def": "A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.", "synonym": [], "xref": [ "SNOMEDCT_US:416300008", "UMLS:C1562761" ], "is_a": [ "HP:0000491" ], "is_obsolete": "", "replace_id": "" }, "HP:0011860": { "name": [ "metaphyseal dappling", "metaphyseal dapple" ], "alt_id": [], "def": "The presence of spots or rounded patches of abnormally increased density of metaphyseal bone.", "synonym": [ [ "dappled metaphyseal sclerosis", "dapple metaphyseal sclerosis" ] ], "xref": [ "UMLS:C4020907" ], "is_a": [ "HP:0004979" ], "is_obsolete": "", "replace_id": "" }, "HP:0011861": { "name": [ "bilateral trilobed lungs", "bilateral trilobed lung" ], "alt_id": [], "def": "Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.", "synonym": [], "xref": [ "SNOMEDCT_US:448648001", "UMLS:C3164377" ], "is_a": [ "HP:0002101" ], "is_obsolete": "", "replace_id": "" }, "HP:0011862": { "name": [ "abnormal bone collagen fibril morphology", "abnormal bone collagen fibril morphology" ], "alt_id": [], "def": "Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity.", "synonym": [], "xref": [ "UMLS:C4023158" ], "is_a": [ "HP:0003330" ], "is_obsolete": "", "replace_id": "" }, "HP:0011863": { "name": [ "abnormal sternal ossification", "abnormal sternal ossification" ], "alt_id": [ "HP:0006624" ], "def": "Any anomaly in the formation of the bony substance of the sternum.", "synonym": [ [ "abnormal maturation of breastbone", "abnormal maturation of breastbone" ], [ "sternal ossification center abnormalities", "sternal ossification center abnormality" ], [ "sternal ossification centre abnormalities", "sternal ossification centre abnormality" ] ], "xref": [ "UMLS:C1860243" ], "is_a": [ "HP:0000766", "HP:0003336" ], "is_obsolete": "", "replace_id": "" }, "HP:0011864": { "name": [ "elevated plasma pyrophosphate", "elevate plasma pyrophosphate" ], "alt_id": [], "def": "An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.", "synonym": [], "xref": [ "UMLS:C4023157" ], "is_a": [ "HP:0100529" ], "is_obsolete": "", "replace_id": "" }, "HP:0011867": { "name": [ "abnormal iliac wing morphology", "abnormal iliac wing morphology" ], "alt_id": [], "def": "An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.", "synonym": [ [ "abnormality of the wing of the ilium", "abnormality of the wing of the ilium" ] ], "xref": [ "UMLS:C4023156" ], "is_a": [ "HP:0002867" ], "is_obsolete": "", "replace_id": "" }, "HP:0011868": { "name": [ "sciatica", "sciatica" ], "alt_id": [], "def": "Pain in the lower back and hip radiating in the distribution of the sciatic nerve.", "synonym": [], "xref": [ "MSH:D012585", "SNOMEDCT_US:23056005", "UMLS:C0036396" ], "is_a": [ "HP:0003418" ], "is_obsolete": "", "replace_id": "" }, "HP:0011869": { "name": [ "abnormal platelet function", "abnormal platelet function" ], "alt_id": [], "def": "Any anomaly in the function of thrombocytes.", "synonym": [], "xref": [ "UMLS:C0855740" ], "is_a": [ "HP:0001872" ], "is_obsolete": "", "replace_id": "" }, "HP:0011870": { "name": [ "impaired arachidonic acid - induced platelet aggregation", "impaired arachidonic acid - induced platelet aggregation" ], "alt_id": [], "def": "Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.", "synonym": [], "xref": [ "UMLS:C4023155" ], "is_a": [ "HP:0003540" ], "is_obsolete": "", "replace_id": "" }, "HP:0011871": { "name": [ "impaired ristocetin - induced platelet aggregation", "impaired ristocetin - induced platelet aggregation" ], "alt_id": [], "def": "Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.", "synonym": [], "xref": [ "UMLS:C4023154" ], "is_a": [ "HP:0003540", "HP:0012146" ], "is_obsolete": "", "replace_id": "" }, "HP:0011872": { "name": [ "impaired thrombin - induced platelet aggregation", "impaired thrombin - induced platelet aggregation" ], "alt_id": [], "def": "Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics).", "synonym": [], "xref": [ "UMLS:C4023153" ], "is_a": [ "HP:0003540" ], "is_obsolete": "", "replace_id": "" }, "HP:0011873": { "name": [ "abnormal platelet count", "abnormal platelet count" ], "alt_id": [], "def": "Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.", "synonym": [], "xref": [ "SNOMEDCT_US:165558001", "UMLS:C0580317" ], "is_a": [ "HP:0001872" ], "is_obsolete": "", "replace_id": "" }, "HP:0011874": { "name": [ "heparin - induced thrombocytopenia", "heparin - induce thrombocytopenia" ], "alt_id": [], "def": "Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin.", "synonym": [], "xref": [ "SNOMEDCT_US:73397007", "UMLS:C0272285" ], "is_a": [ "HP:0001873" ], "is_obsolete": "", "replace_id": "" }, "HP:0011875": { "name": [ "abnormal platelet morphology", "abnormal platelet morphology" ], "alt_id": [], "def": "An anomaly in platelet form, ultrastructure, or intracellular organelles.", "synonym": [ [ "abnormal shape of platelets", "abnormal shape of platelet" ] ], "xref": [ "UMLS:C0855742" ], "is_a": [ "HP:0001872" ], "is_obsolete": "", "replace_id": "" }, "HP:0011876": { "name": [ "abnormal platelet volume", "abnormal platelet volume" ], "alt_id": [], "def": "Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.", "synonym": [], "xref": [ "UMLS:C4023152" ], "is_a": [ "HP:0001872" ], "is_obsolete": "", "replace_id": "" }, "HP:0011877": { "name": [ "increased mean platelet volume", "increase mean platelet volume" ], "alt_id": [], "def": "Average platelet volume above the upper limit of the normal reference interval.", "synonym": [ [ "large platelets", "large platelet" ] ], "xref": [ "UMLS:C1096367" ], "is_a": [ "HP:0011876" ], "is_obsolete": "", "replace_id": "" }, "HP:0011878": { "name": [ "abnormal platelet membrane protein expression", "abnormal platelet membrane protein expression" ], "alt_id": [], "def": "Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.", "synonym": [], "xref": [ "UMLS:C4023151" ], "is_a": [ "HP:0011869" ], "is_obsolete": "", "replace_id": "" }, "HP:0011879": { "name": [ "decreased platelet glycoprotein ib - ix - v", "decrease platelet glycoprotein ib - ix - v" ], "alt_id": [], "def": "Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V.", "synonym": [], "xref": [ "UMLS:C4023150" ], "is_a": [ "HP:0011878" ], "is_obsolete": "", "replace_id": "" }, "HP:0011880": { "name": [ "acute disseminated intravascular coagulation", "acute disseminate intravascular coagulation" ], "alt_id": [], "def": "An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed.", "synonym": [], "xref": [ "UMLS:C4023149" ], "is_a": [ "HP:0005521" ], "is_obsolete": "", "replace_id": "" }, "HP:0011881": { "name": [ "decreased platelet glycoprotein vi", "decrease platelet glycoprotein vi" ], "alt_id": [], "def": "Decreased cell membrane concentration of glycoprotein VI.", "synonym": [], "xref": [ "UMLS:C4023148" ], "is_a": [ "HP:0011878" ], "is_obsolete": "", "replace_id": "" }, "HP:0011882": { "name": [ "decreased platelet p2y12 receptor", "decrease platelet p2y12 receptor" ], "alt_id": [], "def": "Decreased cell membrane concentration of P2Y12 receptor.", "synonym": [], "xref": [ "UMLS:C4023147" ], "is_a": [ "HP:0011878" ], "is_obsolete": "", "replace_id": "" }, "HP:0011883": { "name": [ "abnormal platelet granules", "abnormal platelet granule" ], "alt_id": [], "def": "An anomaly of alpha or dense granules or platelet lysosomes.", "synonym": [], "xref": [ "UMLS:C4023146" ], "is_a": [ "HP:0011875" ], "is_obsolete": "", "replace_id": "" }, "HP:0011884": { "name": [ "abnormal umbilical stump bleeding", "abnormal umbilical stump bleeding" ], "alt_id": [], "def": "Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.", "synonym": [], "xref": [ "UMLS:C4023145" ], "is_a": [ "HP:0001892" ], "is_obsolete": "", "replace_id": "" }, "HP:0011885": { "name": [ "hemorrhage of the eye", "hemorrhage of the eye" ], "alt_id": [], "def": "Bleeding from vessels of the various tissues of the eye.", "synonym": [ [ "bleeding from the eye", "bleed from the eye" ], [ "haemorrhage of the eye", "haemorrhage of the eye" ] ], "xref": [ "MSH:D005130", "SNOMEDCT_US:417244000", "SNOMEDCT_US:93478000", "UMLS:C0015402" ], "is_a": [ "HP:0011029", "HP:0012373" ], "is_obsolete": "", "replace_id": "" }, "HP:0011886": { "name": [ "hyphema", "hyphema" ], "alt_id": [], "def": "Bleeding in the anterior chamber of the eye.", "synonym": [], "xref": [ "MSH:D006988", "SNOMEDCT_US:75229002", "UMLS:C0020581" ], "is_a": [ "HP:0011885" ], "is_obsolete": "", "replace_id": "" }, "HP:0011887": { "name": [ "choroid hemorrhage", "choroid hemorrhage" ], "alt_id": [], "def": "Hemorrhage from the vessels of the choroid.", "synonym": [ [ "choroid haemorrhage", "choroid haemorrhage" ], [ "choroidal haemorrhage", "choroidal haemorrhage" ], [ "choroidal hemorrhage", "choroidal hemorrhage" ] ], "xref": [ "MSH:D002832", "SNOMEDCT_US:122003", "UMLS:C0008522" ], "is_a": [ "HP:0011885" ], "is_obsolete": "", "replace_id": "" }, "HP:0011888": { "name": [ "bleeding requiring red cell transfusion", "bleed require red cell transfusion" ], "alt_id": [], "def": "Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4).", "synonym": [ [ "bleeding requiring red cell transfusion", "bleed require red cell transfusion" ] ], "xref": [ "UMLS:C4023144" ], "is_a": [ "HP:0001892" ], "is_obsolete": "", "replace_id": "" }, "HP:0011889": { "name": [ "bleeding with minor or no trauma", "bleed with minor or no trauma" ], "alt_id": [], "def": "Significant bleeding or hemorrhage without significant precipitating factor.", "synonym": [ [ "bleeding with minor or no trauma", "bleed with minor or no trauma" ], [ "easy bleeding", "easy bleeding" ] ], "xref": [ "UMLS:C4023143" ], "is_a": [ "HP:0001892" ], "is_obsolete": "", "replace_id": "" }, "HP:0011890": { "name": [ "prolonged bleeding following procedure", "prolonged bleeding following procedure" ], "alt_id": [], "def": "Prolonged or protracted bleeding following an invasive procedure or intervention.", "synonym": [ [ "prolonged bleeding following procedure", "prolonged bleeding following procedure" ] ], "xref": [ "UMLS:C4023142" ], "is_a": [ "HP:0001892" ], "is_obsolete": "", "replace_id": "" }, "HP:0011891": { "name": [ "post - partum hemorrhage", "post - partum hemorrhage" ], "alt_id": [], "def": "Significant maternal haemorrhage/blood loss following deilvery of a child.", "synonym": [ [ "bleeding post - delivery", "bleed post - delivery" ], [ "post - partum haemorrhage", "post - partum haemorrhage" ] ], "xref": [ "MSH:D006473", "SNOMEDCT_US:47821001", "UMLS:C0032797" ], "is_a": [ "HP:0011890" ], "is_obsolete": "", "replace_id": "" }, "HP:0011892": { "name": [ "low levels of vitamin k", "low level of vitamin k" ], "alt_id": [], "def": "A reduced concentration of vitamin K.", "synonym": [], "xref": [ "MSH:D014813", "SNOMEDCT_US:52675005", "UMLS:C0042880" ], "is_a": [ "HP:0100831" ], "is_obsolete": "", "replace_id": "" }, "HP:0011893": { "name": [ "abnormal leukocyte count", "abnormal leukocyte count" ], "alt_id": [], "def": "Number of leukocytes per volume of blood beyond normal limits.", "synonym": [ [ "abnormal white blood cell count", "abnormal white blood cell count" ] ], "xref": [ "SNOMEDCT_US:165509000", "UMLS:C0580531" ], "is_a": [ "HP:0001881" ], "is_obsolete": "", "replace_id": "" }, "HP:0011894": { "name": [ "impaired thromboxane a2 agonist - induced platelet aggregation", "impaired thromboxane a2 agonist - induced platelet aggregation" ], "alt_id": [], "def": "Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.", "synonym": [], "xref": [ "UMLS:C4023141" ], "is_a": [ "HP:0003540" ], "is_obsolete": "", "replace_id": "" }, "HP:0011895": { "name": [ "anemia due to reduced life span of red cells", "anemia due to reduced life span of red cell" ], "alt_id": [], "def": "A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.", "synonym": [ [ "anaemia due to reduced life span of red cells", "anaemia due to reduced life span of red cell" ] ], "xref": [ "UMLS:C4021112" ], "is_a": [ "HP:0001903" ], "is_obsolete": "", "replace_id": "" }, "HP:0011896": { "name": [ "subconjunctival hemorrhage", "subconjunctival hemorrhage" ], "alt_id": [], "def": "Bleeding beneath the mucous membrane that lines the inner surface of the eyelid.", "synonym": [ [ "subconjunctival haemorrhage", "subconjunctival haemorrhage" ] ], "xref": [ "SNOMEDCT_US:78768009", "UMLS:C0038534" ], "is_a": [ "HP:0011885" ], "is_obsolete": "", "replace_id": "" }, "HP:0011897": { "name": [ "neutrophilia", "neutrophilia" ], "alt_id": [], "def": "Increased number of neutrophils circulating in blood.", "synonym": [ [ "increased blood neutrophil counts", "increase blood neutrophil count" ] ], "xref": [ "UMLS:C4023140" ], "is_a": [ "HP:0011991" ], "is_obsolete": "", "replace_id": "" }, "HP:0011898": { "name": [ "abnormality of circulating fibrinogen", "abnormality of circulate fibrinogen" ], "alt_id": [], "def": "An abnormality of the level of activity of circulating fibrinogen.", "synonym": [], "xref": [ "UMLS:C4023139" ], "is_a": [ "HP:0010990" ], "is_obsolete": "", "replace_id": "" }, "HP:0011899": { "name": [ "hyperfibrinogenemia", "hyperfibrinogenemia" ], "alt_id": [], "def": "Increased concentration of fibrinogen in the blood.", "synonym": [], "xref": [ "SNOMEDCT_US:439000005", "UMLS:C0919890" ], "is_a": [ "HP:0011898" ], "is_obsolete": "", "replace_id": "" }, "HP:0011900": { "name": [ "hypofibrinogenemia", "hypofibrinogenemia" ], "alt_id": [], "def": "Decreased concentration of fibrinogen in the blood.", "synonym": [ [ "low fibrinogen activity", "low fibrinogen activity" ], [ "low fibrinogen level", "low fibrinogen level" ] ], "xref": [ "SNOMEDCT_US:234457009", "UMLS:C0553681" ], "is_a": [ "HP:0011898" ], "is_obsolete": "", "replace_id": "" }, "HP:0011901": { "name": [ "dysfibrinogenemia", "dysfibrinogenemia" ], "alt_id": [], "def": "Qualitatively abnormal fibrinogen.", "synonym": [ [ "dysfibrinogenaemia", "dysfibrinogenaemia" ] ], "xref": [ "SNOMEDCT_US:111589005", "UMLS:C1260903" ], "is_a": [ "HP:0011898" ], "is_obsolete": "", "replace_id": "" }, "HP:0011902": { "name": [ "abnormal hemoglobin", "abnormal hemoglobin" ], "alt_id": [], "def": "Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.", "synonym": [ [ "abnormal haemoglobin", "abnormal haemoglobin" ], [ "abnormal hb", "abnormal hb" ] ], "xref": [ "UMLS:C0349705" ], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0011903": { "name": [ "hbh hemoglobin", "hbh hemoglobin" ], "alt_id": [], "def": "Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia.", "synonym": [ [ "haemoglobin h", "haemoglobin h" ], [ "hbh haemoglobin", "hbh haemoglobin" ], [ "hemoglobin h", "hemoglobin h" ] ], "xref": [ "SNOMEDCT_US:48553001", "UMLS:C3161174" ], "is_a": [ "HP:0011902" ], "is_obsolete": "", "replace_id": "" }, "HP:0011904": { "name": [ "persistence of hemoglobin f", "persistence of hemoglobin f" ], "alt_id": [], "def": "Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.", "synonym": [ [ "increased haemoglobin f", "increase haemoglobin f" ], [ "increased hemoglobin f", "increase hemoglobin f" ], [ "persistence of haemoglobin f", "persistence of haemoglobin f" ], [ "persistence of hbf", "persistence of hbf" ] ], "xref": [ "UMLS:C0239941" ], "is_a": [ "HP:0011902" ], "is_obsolete": "", "replace_id": "" }, "HP:0011905": { "name": [ "reduced hemoglobin a", "reduce hemoglobin a" ], "alt_id": [], "def": "Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia.", "synonym": [ [ "reduced haemoglobin a", "reduce haemoglobin a" ], [ "reduced hba", "reduce hba" ] ], "xref": [ "UMLS:C4023138" ], "is_a": [ "HP:0011902" ], "is_obsolete": "", "replace_id": "" }, "HP:0011906": { "name": [ "reduced beta / alpha synthesis ratio", "reduce beta / alpha synthesis ratio" ], "alt_id": [], "def": "A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.", "synonym": [], "xref": [ "UMLS:C4023137" ], "is_a": [ "HP:0005560" ], "is_obsolete": "", "replace_id": "" }, "HP:0011907": { "name": [ "reduced alpha / beta synthesis ratio", "reduce alpha / beta synthesis ratio" ], "alt_id": [], "def": "A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.", "synonym": [], "xref": [ "UMLS:C4023136" ], "is_a": [ "HP:0005560" ], "is_obsolete": "", "replace_id": "" }, "HP:0011908": { "name": [ "unilateral radial aplasia", "unilateral radial aplasia" ], "alt_id": [], "def": "Missing radius bone on one side only associated with congenital failure of development.", "synonym": [], "xref": [ "UMLS:C4023135" ], "is_a": [ "HP:0003974" ], "is_obsolete": "", "replace_id": "" }, "HP:0011909": { "name": [ "flattened metacarpal heads", "flatten metacarpal head" ], "alt_id": [], "def": "Abnormally flat shape of the heads of the metacarpal bones.", "synonym": [ [ "flattened head of long bone of hand", "flatten head of long bone of hand" ] ], "xref": [ "UMLS:C4023134" ], "is_a": [ "HP:0005916" ], "is_obsolete": "", "replace_id": "" }, "HP:0011910": { "name": [ "shortening of all phalanges of fingers", "shortening of all phalanx of finger" ], "alt_id": [], "def": "Abnormal reduction in length affecting all phalanges.", "synonym": [ [ "shortening of all finger bones", "shortening of all finger bone" ] ], "xref": [ "UMLS:C4023133" ], "is_a": [ "HP:0009803" ], "is_obsolete": "", "replace_id": "" }, "HP:0011911": { "name": [ "abnormality of metacarpophalangeal joint", "abnormality of metacarpophalangeal joint" ], "alt_id": [], "def": "An anomaly of a metacarpophalangeal joint.", "synonym": [ [ "abnormality of the knuckle", "abnormality of the knuckle" ] ], "xref": [ "UMLS:C4023132" ], "is_a": [ "HP:0001163" ], "is_obsolete": "", "replace_id": "" }, "HP:0011912": { "name": [ "abnormality of the glenoid fossa", "abnormality of the glenoid fossa" ], "alt_id": [], "def": "An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.", "synonym": [], "xref": [ "UMLS:C4023131" ], "is_a": [ "HP:0000782", "HP:0003043" ], "is_obsolete": "", "replace_id": "" }, "HP:0011913": { "name": [ "lumbar hypertrichosis", "lumbar hypertrichosis" ], "alt_id": [], "def": "Excessive, increased hair growth located in the lumbar region.", "synonym": [], "xref": [ "UMLS:C4023130" ], "is_a": [ "HP:0000998" ], "is_obsolete": "", "replace_id": "" }, "HP:0011914": { "name": [ "thoracic hypertrichosis", "thoracic hypertrichosis" ], "alt_id": [], "def": "Excessive, increased hair growth located in the thoracic region.", "synonym": [], "xref": [ "UMLS:C4023129" ], "is_a": [ "HP:0000998" ], "is_obsolete": "", "replace_id": "" }, "HP:0011915": { "name": [ "cardiovascular calcification", "cardiovascular calcification" ], "alt_id": [], "def": "Abnormal calcification in the cardiovascular system.", "synonym": [], "xref": [ "UMLS:C4023128" ], "is_a": [ "HP:0010766", "HP:0030680" ], "is_obsolete": "", "replace_id": "" }, "HP:0011916": { "name": [ "toe extensor amyotrophy", "toe extensor amyotrophy" ], "alt_id": [], "def": "Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.", "synonym": [], "xref": [ "UMLS:C4023127" ], "is_a": [ "HP:0001436" ], "is_obsolete": "", "replace_id": "" }, "HP:0011917": { "name": [ "short 5th toe", "short 5th toe" ], "alt_id": [], "def": "Underdevelopment (hypoplasia) of the fifth toe.", "synonym": [ [ "short fifth toe", "short fifth toe" ], [ "short little toe", "short little toe" ], [ "short pinkie toe", "short pinkie toe" ], [ "short pinky toe", "short pinky toe" ] ], "xref": [ "UMLS:C4021111" ], "is_a": [ "HP:0001831" ], "is_obsolete": "", "replace_id": "" }, "HP:0011918": { "name": [ "clinodactyly of the 4th toe", "clinodactyly of the 4th toe" ], "alt_id": [], "def": "Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).", "synonym": [ [ "4th toe clinodactyly", "4th toe clinodactyly" ], [ "curvature of 4th toe", "curvature of 4th toe" ] ], "xref": [ "UMLS:C4020740" ], "is_a": [ "HP:0001863", "HP:0010338" ], "is_obsolete": "", "replace_id": "" }, "HP:0011919": { "name": [ "pleural empyema", "pleural empyema" ], "alt_id": [], "def": "Accumulation of pus in the pleural cavity.", "synonym": [ [ "pyothorax", "pyothorax" ] ], "xref": [ "MSH:D016724", "SNOMEDCT_US:405950009", "SNOMEDCT_US:405951008", "SNOMEDCT_US:58554001", "UMLS:C0014013" ], "is_a": [ "HP:0002202" ], "is_obsolete": "", "replace_id": "" }, "HP:0011920": { "name": [ "transudative pleural effusion", "transudative pleural effusion" ], "alt_id": [], "def": "A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.", "synonym": [], "xref": [ "MSH:D006876", "SNOMEDCT_US:79231000", "UMLS:C0020312" ], "is_a": [ "HP:0002202" ], "is_obsolete": "", "replace_id": "" }, "HP:0011921": { "name": [ "exudative pleural effusion", "exudative pleural effusion" ], "alt_id": [], "def": "A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.", "synonym": [], "xref": [ "SNOMEDCT_US:13841000119107", "UMLS:C3887491" ], "is_a": [ "HP:0002202" ], "is_obsolete": "", "replace_id": "" }, "HP:0011922": { "name": [ "abnormal activity of mitochondrial respiratory chain", "abnormal activity of mitochondrial respiratory chain" ], "alt_id": [], "def": "An increased or decreased activity of the mitochondrial respiratory chain.", "synonym": [], "xref": [ "UMLS:C4023126" ], "is_a": [ "HP:0003287" ], "is_obsolete": "", "replace_id": "" }, "HP:0011923": { "name": [ "decreased activity of mitochondrial complex i", "decreased activity of mitochondrial complex i" ], "alt_id": [], "def": "A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.", "synonym": [ [ "respiratory complex i deficiency", "respiratory complex i deficiency" ] ], "xref": [ "UMLS:C2677650", "UMLS:C4020739" ], "is_a": [ "HP:0008972" ], "is_obsolete": "", "replace_id": "" }, "HP:0011924": { "name": [ "decreased activity of mitochondrial complex iii", "decreased activity of mitochondrial complex iii" ], "alt_id": [], "def": "A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.", "synonym": [ [ "respiratory complex iii deficiency", "respiratory complex iii deficiency" ] ], "xref": [ "UMLS:C3149083", "UMLS:C4020738" ], "is_a": [ "HP:0008972" ], "is_obsolete": "", "replace_id": "" }, "HP:0011925": { "name": [ "decreased activity of mitochondrial atp synthase complex", "decreased activity of mitochondrial atp synthase complex" ], "alt_id": [], "def": "A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain.", "synonym": [ [ "respiratory complex deficiency , atpase deficiency", "respiratory complex deficiency , atpase deficiency" ] ], "xref": [ "UMLS:C4020737", "UMLS:C4023125" ], "is_a": [ "HP:0008972" ], "is_obsolete": "", "replace_id": "" }, "HP:0011926": { "name": [ "proximal placement of hallux", "proximal placement of hallux" ], "alt_id": [], "def": "Proximal mislocalization of the big toe from its normal position.", "synonym": [ [ "proximal placement of big toe", "proximal placement of big toe" ], [ "proximally placed halluces", "proximally place hallux" ] ], "xref": [ "UMLS:C4021110" ], "is_a": [ "HP:0010051" ], "is_obsolete": "", "replace_id": "" }, "HP:0011927": { "name": [ "short digit", "short digit" ], "alt_id": [], "def": "One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.", "synonym": [ [ "short digit", "short digit" ], [ "very short digits", "very short digit" ] ], "xref": [ "UMLS:C1860176", "UMLS:C4023124" ], "is_a": [ "HP:0011297" ], "is_obsolete": "", "replace_id": "" }, "HP:0011928": { "name": [ "short proximal phalanx of toe", "short proximal phalanx of toe" ], "alt_id": [], "def": "Developmental hypoplasia (shortening) of proximal phalanx of toe.", "synonym": [ [ "short innermost toe bone", "short innermost toe bone" ] ], "xref": [ "UMLS:C4023123" ], "is_a": [ "HP:0001831", "HP:0010184" ], "is_obsolete": "", "replace_id": "" }, "HP:0011929": { "name": [ "hypersegmentation of proximal phalanx of third finger", "hypersegmentation of proximal phalanx of third finger" ], "alt_id": [], "def": "Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger.", "synonym": [], "xref": [ "UMLS:C4023122" ], "is_a": [ "HP:0009358" ], "is_obsolete": "", "replace_id": "" }, "HP:0011930": { "name": [ "hyperextensible skin of chest", "hyperextensible skin of chest" ], "alt_id": [], "def": "", "synonym": [ [ "hyperelastic chest skin", "hyperelastic chest skin" ], [ "stretchable chest skin", "stretchable chest skin" ] ], "xref": [ "UMLS:C4021836" ], "is_a": [ "HP:0007458" ], "is_obsolete": "", "replace_id": "" }, "HP:0011931": { "name": [ "abnormal cerebellar peduncle morphology", "abnormal cerebellar peduncle morphology" ], "alt_id": [], "def": "An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.", "synonym": [ [ "abnormality of the cerebellar peduncle", "abnormality of the cerebellar peduncle" ] ], "xref": [ "UMLS:C4023121" ], "is_a": [ "HP:0001317", "HP:0012501" ], "is_obsolete": "", "replace_id": "" }, "HP:0011932": { "name": [ "abnormal superior cerebellar peduncle morphology", "abnormal superior cerebellar peduncle morphology" ], "alt_id": [], "def": "An anomaly of the superior cerebellar peduncle.", "synonym": [ [ "abnormality of the superior cerebellar peduncle", "abnormality of the superior cerebellar peduncle" ] ], "xref": [ "UMLS:C4023120" ], "is_a": [ "HP:0007361", "HP:0011931" ], "is_obsolete": "", "replace_id": "" }, "HP:0011933": { "name": [ "elongated superior cerebellar peduncle", "elongate superior cerebellar peduncle" ], "alt_id": [], "def": "Increased length of the superior cerebellar peduncle.", "synonym": [ [ "elongated superior cerebellar peduncles", "elongate superior cerebellar peduncle" ], [ "long cerebellar peduncle", "long cerebellar peduncle" ], [ "long cerebellar peduncles", "long cerebellar peduncle" ] ], "xref": [ "UMLS:C3810214", "UMLS:C4021109" ], "is_a": [ "HP:0011932" ], "is_obsolete": "", "replace_id": "" }, "HP:0011934": { "name": [ "dilatation of mesenteric artery", "dilatation of mesenteric artery" ], "alt_id": [], "def": "Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .", "synonym": [ [ "mesenteric artery aneurysm", "mesenteric artery aneurysm" ] ], "xref": [ "UMLS:C4023119" ], "is_a": [ "HP:0002636" ], "is_obsolete": "", "replace_id": "" }, "HP:0011935": { "name": [ "decreased urinary urate", "decrease urinary urate" ], "alt_id": [], "def": "Decreased concentration of urate in the urine.", "synonym": [], "xref": [ "UMLS:C4023118" ], "is_a": [ "HP:0012610" ], "is_obsolete": "", "replace_id": "" }, "HP:0011936": { "name": [ "decreased plasma total carnitine", "decrease plasma total carnitine" ], "alt_id": [], "def": "A decreased concentration of total carnitine in the blood.", "synonym": [ [ "decreased plasma total carnitine", "decrease plasma total carnitine" ] ], "xref": [ "UMLS:C4023117" ], "is_a": [ "HP:0003234" ], "is_obsolete": "", "replace_id": "" }, "HP:0011937": { "name": [ "hypoplastic fifth toenail", "hypoplastic fifth toenail" ], "alt_id": [], "def": "Underdeveloped nails of the fifth toes.", "synonym": [ [ "small fifth toenail", "small fifth toenail" ], [ "underdeveloped fifth toenail", "underdeveloped fifth toenail" ] ], "xref": [ "UMLS:C4023116" ], "is_a": [ "HP:0001800" ], "is_obsolete": "", "replace_id": "" }, "HP:0011939": { "name": [ "3 - 4 finger cutaneous syndactyly", "3 - 4 finger cutaneous syndactyly" ], "alt_id": [], "def": "A soft tissue continuity in the A/P axis between fingers 3 and 4.", "synonym": [], "xref": [ "UMLS:C4023115" ], "is_a": [ "HP:0010554" ], "is_obsolete": "", "replace_id": "" }, "HP:0011940": { "name": [ "anterior wedging of t12", "anterior wedging of t12" ], "alt_id": [], "def": "An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front).", "synonym": [ [ "anterior wedging of the 12th thoracic vertebra", "anterior wedging of the 12th thoracic vertebra" ], [ "wedge - shaped 12th thoracic vertebra", "wedge - shape 12th thoracic vertebra" ] ], "xref": [ "UMLS:C4021108" ], "is_a": [ "HP:0008422" ], "is_obsolete": "", "replace_id": "" }, "HP:0011941": { "name": [ "anterior wedging of l2", "anterior wedging of l2" ], "alt_id": [], "def": "An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front).", "synonym": [], "xref": [ "UMLS:C4023114" ], "is_a": [ "HP:0008422" ], "is_obsolete": "", "replace_id": "" }, "HP:0011942": { "name": [ "increased urinary sulfite", "increase urinary sulfite" ], "alt_id": [], "def": "Increased concentration of SO3(2-), i.e., sulfite, in the urine.", "synonym": [], "xref": [ "UMLS:C1848957" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0011943": { "name": [ "increased urinary thiosulfate", "increase urinary thiosulfate" ], "alt_id": [], "def": "Increased concentration of thiosulfate(2-) in the urine.", "synonym": [], "xref": [ "UMLS:C3148695" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0011944": { "name": [ "small vessel vasculitis", "small vessel vasculitis" ], "alt_id": [], "def": "A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.", "synonym": [], "xref": [ "UMLS:C4023113" ], "is_a": [ "HP:0002633" ], "is_obsolete": "", "replace_id": "" }, "HP:0011945": { "name": [ "bronchiolitis obliterans organizing pneumonia", "bronchiolitis obliterans organize pneumonia" ], "alt_id": [], "def": "Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss.", "synonym": [ [ "bronchiolitis obliterans organising pneumonia", "bronchiolitis obliterans organise pneumonia" ], [ "cryptogenic organising pneumonia", "cryptogenic organise pneumonia" ], [ "cryptogenic organizing pneumonia", "cryptogenic organize pneumonia" ] ], "xref": [ "MSH:D018549", "SNOMEDCT_US:129458007", "UMLS:C0242770" ], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0011946": { "name": [ "bronchiolitis obliterans", "bronchiolitis obliterans" ], "alt_id": [], "def": "Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways.", "synonym": [ [ "constrictive bronchiolitis", "constrictive bronchiolitis" ], [ "obliterative bronchiolitis", "obliterative bronchiolitis" ] ], "xref": [ "MSH:D001989", "SNOMEDCT_US:40100001", "UMLS:C0006272", "UMLS:C2350875" ], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0011947": { "name": [ "respiratory tract infection", "respiratory tract infection" ], "alt_id": [], "def": "An infection of the upper or lower respiratory tract.", "synonym": [ [ "respiratory infection", "respiratory infection" ], [ "respiratory infections", "respiratory infection" ], [ "respiratory tract infection", "respiratory tract infection" ] ], "xref": [ "MSH:D012141", "SNOMEDCT_US:275498002", "UMLS:C0035243" ], "is_a": [ "HP:0002088" ], "is_obsolete": "", "replace_id": "" }, "HP:0011948": { "name": [ "recurrent acute respiratory tract infection", "recurrent acute respiratory tract infection" ], "alt_id": [], "def": "A history of repeated acute infections of the upper or lower respiratory tract.", "synonym": [ [ "acute respiratory tract infection", "acute respiratory tract infection" ] ], "xref": [ "UMLS:C1442786" ], "is_a": [ "HP:0002205" ], "is_obsolete": "", "replace_id": "" }, "HP:0011949": { "name": [ "acute infectious pneumonia", "acute infectious pneumonia" ], "alt_id": [], "def": "Acute inflammation of the lung due to an infection.", "synonym": [], "xref": [ "UMLS:C4023112" ], "is_a": [ "HP:0002090" ], "is_obsolete": "", "replace_id": "" }, "HP:0011950": { "name": [ "bronchiolitis", "bronchiolitis" ], "alt_id": [], "def": "Inflammation of the bronchioles.", "synonym": [], "xref": [ "MSH:D001988", "SNOMEDCT_US:4120002", "UMLS:C0006271" ], "is_a": [ "HP:0011948" ], "is_obsolete": "", "replace_id": "" }, "HP:0011951": { "name": [ "aspiration pneumonia", "aspiration pneumonia" ], "alt_id": [], "def": "Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.", "synonym": [], "xref": [ "MSH:D011015", "SNOMEDCT_US:422588002", "UMLS:C0032290" ], "is_a": [ "HP:0002090" ], "is_obsolete": "", "replace_id": "" }, "HP:0011952": { "name": [ "acute aspiration pneumonia", "acute aspiration pneumonia" ], "alt_id": [], "def": "An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.", "synonym": [], "xref": [ "SNOMEDCT_US:35031000119100", "UMLS:C4023111" ], "is_a": [ "HP:0011951" ], "is_obsolete": "", "replace_id": "" }, "HP:0011953": { "name": [ "pulmonary lymphoma", "pulmonary lymphoma" ], "alt_id": [], "def": "Lung parenchymal involvement with lymphoma.", "synonym": [], "xref": [ "UMLS:C0519063" ], "is_a": [ "HP:0002665", "HP:0100526" ], "is_obsolete": "", "replace_id": "" }, "HP:0011954": { "name": [ "nodular regenerative hyperplasia of liver", "nodular regenerative hyperplasia of liver" ], "alt_id": [], "def": "Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.", "synonym": [ [ "nodular transformation of liver", "nodular transformation of liver" ], [ "noncirrhotic nodulation", "noncirrhotic nodulation" ], [ "partial nodular transformation of liver", "partial nodular transformation of liver" ] ], "xref": [ "SNOMEDCT_US:65860006", "SNOMEDCT_US:715140008", "UMLS:C1318485" ], "is_a": [ "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0011955": { "name": [ "hepatic granulomatosis", "hepatic granulomatosis" ], "alt_id": [], "def": "The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.", "synonym": [], "xref": [ "UMLS:C4023110" ], "is_a": [ "HP:0002955", "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0011956": { "name": [ "intestinal lymphoid nodular hyperplasia", "intestinal lymphoid nodular hyperplasia" ], "alt_id": [], "def": "A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.", "synonym": [], "xref": [ "UMLS:C4023109" ], "is_a": [ "HP:0002242" ], "is_obsolete": "", "replace_id": "" }, "HP:0011957": { "name": [ "abnormal pectoral muscle morphology", "abnormal pectoral muscle morphology" ], "alt_id": [], "def": "An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major.", "synonym": [ [ "abnormal pec muscles", "abnormal pec muscle" ] ], "xref": [ "UMLS:C4023108" ], "is_a": [ "HP:0009131" ], "is_obsolete": "", "replace_id": "" }, "HP:0011958": { "name": [ "retinal perforation", "retinal perforation" ], "alt_id": [], "def": "A small hole through the whole thickness of the retina.", "synonym": [ [ "retinal tear", "retinal tear" ], [ "torn retina", "torn retina" ] ], "xref": [ "MSH:D012167", "SNOMEDCT_US:232003005", "SNOMEDCT_US:302888003", "SNOMEDCT_US:40024006", "SNOMEDCT_US:95690009", "UMLS:C0035321" ], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0011959": { "name": [ "unilateral hypoplasia of pectoralis major muscle", "unilateral hypoplasia of pectoralis major muscle" ], "alt_id": [], "def": "Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.", "synonym": [ [ "small pec muscle on one side", "small pec muscle on one side" ], [ "underdeveloped pec muscle on one side", "underdeveloped pec muscle on one side" ] ], "xref": [ "UMLS:C4023107" ], "is_a": [ "HP:0011957" ], "is_obsolete": "", "replace_id": "" }, "HP:0011960": { "name": [ "substantia nigra gliosis", "substantia nigra gliosis" ], "alt_id": [], "def": "Focal proliferation of glial cells in the substantia nigra.", "synonym": [], "xref": [ "UMLS:C1846865" ], "is_a": [ "HP:0002171", "HP:0045007" ], "is_obsolete": "", "replace_id": "" }, "HP:0011961": { "name": [ "non - obstructive azoospermia", "non - obstructive azoospermia" ], "alt_id": [], "def": "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.", "synonym": [ [ "testicular azoospermia", "testicular azoospermia" ] ], "xref": [ "UMLS:C4021107" ], "is_a": [ "HP:0000027" ], "is_obsolete": "", "replace_id": "" }, "HP:0011962": { "name": [ "obstructive azoospermia", "obstructive azoospermia" ], "alt_id": [], "def": "Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.", "synonym": [], "xref": [ "UMLS:C4023106" ], "is_a": [ "HP:0000027" ], "is_obsolete": "", "replace_id": "" }, "HP:0011963": { "name": [ "pretesticular azoospermia", "pretesticular azoospermia" ], "alt_id": [], "def": "Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels.", "synonym": [], "xref": [ "UMLS:C4023105" ], "is_a": [ "HP:0000027" ], "is_obsolete": "", "replace_id": "" }, "HP:0011964": { "name": [ "intermittent painful muscle spasms", "intermittent painful muscle spasm" ], "alt_id": [], "def": "History of repeated intermittent involuntary muscle contractions that were painful.", "synonym": [], "xref": [ "UMLS:C4023104" ], "is_a": [ "HP:0003394" ], "is_obsolete": "", "replace_id": "" }, "HP:0011965": { "name": [ "abnormal circulating citrulline concentration", "abnormal circulate citrulline concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of citrulline in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023103" ], "is_a": [ "HP:0033109" ], "is_obsolete": "", "replace_id": "" }, "HP:0011966": { "name": [ "elevated plasma citrulline", "elevate plasma citrulline" ], "alt_id": [], "def": "An increased concentration of citrulline in the blood.", "synonym": [], "xref": [ "UMLS:C4023102" ], "is_a": [ "HP:0011965" ], "is_obsolete": "", "replace_id": "" }, "HP:0011967": { "name": [ "decreased circulating copper concentration", "decrease circulate copper concentration" ], "alt_id": [], "def": "A reduced concentration of copper in the blood.", "synonym": [ [ "copper deficiency", "copper deficiency" ], [ "hypocupremia", "hypocupremia" ], [ "reduced serum copper", "reduce serum copper" ] ], "xref": [ "SNOMEDCT_US:19577007", "UMLS:C0268070" ], "is_a": [ "HP:0010836" ], "is_obsolete": "", "replace_id": "" }, "HP:0011968": { "name": [ "feeding difficulties", "feed difficulty" ], "alt_id": [], "def": "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.", "synonym": [ [ "feeding difficulties", "feed difficulty" ], [ "feeding problems", "feeding problem" ], [ "poor feeding", "poor feeding" ] ], "xref": [ "SNOMEDCT_US:78164000", "UMLS:C0232466" ], "is_a": [ "HP:0011458" ], "is_obsolete": "", "replace_id": "" }, "HP:0011969": { "name": [ "elevated circulating luteinizing hormone level", "elevate circulate luteinizing hormone level" ], "alt_id": [ "HP:0030343" ], "def": "An elevated concentration of luteinizing hormone in the blood.", "synonym": [ [ "elevated lh level", "elevate lh level" ], [ "elevated luteinizing hormone", "elevate luteinizing hormone" ], [ "increased circulating luteinizing hormone level", "increase circulate luteinizing hormone level" ] ], "xref": [ "UMLS:C4023101" ], "is_a": [ "HP:0000837", "HP:0030345" ], "is_obsolete": "", "replace_id": "" }, "HP:0011970": { "name": [ "cerebral amyloid angiopathy", "cerebral amyloid angiopathy" ], "alt_id": [], "def": "Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.", "synonym": [], "xref": [ "MSH:D016657", "SNOMEDCT_US:230724001", "UMLS:C0085220" ], "is_a": [ "HP:0011034" ], "is_obsolete": "", "replace_id": "" }, "HP:0011971": { "name": [ "dermatographic urticaria", "dermatographic urticaria" ], "alt_id": [], "def": "An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor).", "synonym": [ [ "dermatographism", "dermatographism" ], [ "dermographism", "dermographism" ], [ "skin writing", "skin writing" ] ], "xref": [ "SNOMEDCT_US:402410006", "SNOMEDCT_US:402601007", "SNOMEDCT_US:7632005", "UMLS:C0343065" ], "is_a": [ "HP:0410134" ], "is_obsolete": "", "replace_id": "" }, "HP:0011972": { "name": [ "hypoglycorrhachia", "hypoglycorrhachia" ], "alt_id": [], "def": "Abnormally low glucose concentration in the cerebrospinal fluid.", "synonym": [ [ "decreased csf glucose", "decrease csf glucose" ], [ "low glucose levels in cerebral spinal fluid", "low glucose level in cerebral spinal fluid" ] ], "xref": [ "UMLS:C0598121" ], "is_a": [ "HP:0031884" ], "is_obsolete": "", "replace_id": "" }, "HP:0011973": { "name": [ "paroxysmal lethargy", "paroxysmal lethargy" ], "alt_id": [], "def": "Repeated episodes of sudden-onset and transient lethargy.", "synonym": [], "xref": [ "UMLS:C1847507" ], "is_a": [ "HP:0001254" ], "is_obsolete": "", "replace_id": "" }, "HP:0011974": { "name": [ "myelofibrosis", "myelofibrosis" ], "alt_id": [], "def": "Replacement of bone marrow by fibrous tissue.", "synonym": [], "xref": [ "SNOMEDCT_US:52967002", "UMLS:C0026987" ], "is_a": [ "HP:0012145" ], "is_obsolete": "", "replace_id": "" }, "HP:0011975": { "name": [ "aminoglycoside - induced hearing loss", "aminoglycoside - induced hearing loss" ], "alt_id": [], "def": "Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.", "synonym": [], "xref": [ "UMLS:C4023100" ], "is_a": [ "HP:0000365" ], "is_obsolete": "", "replace_id": "" }, "HP:0011976": { "name": [ "elevated urinary catecholamines", "elevate urinary catecholamine" ], "alt_id": [], "def": "An increased concentration of catecholamine in the urine.", "synonym": [ [ "elevated urinary catecholamines", "elevate urinary catecholamine" ] ], "xref": [ "UMLS:C0241577" ], "is_a": [ "HP:0011281" ], "is_obsolete": "", "replace_id": "" }, "HP:0011977": { "name": [ "elevated urinary homovanillic acid", "elevate urinary homovanillic acid" ], "alt_id": [], "def": "An increased concentration of homovanillic acid in the urine.", "synonym": [ [ "increased urinary homovanillic acid", "increase urinary homovanillic acid" ] ], "xref": [ "UMLS:C4020736" ], "is_a": [ "HP:0040156" ], "is_obsolete": "", "replace_id": "" }, "HP:0011978": { "name": [ "elevated urinary vanillylmandelic acid", "elevate urinary vanillylmandelic acid" ], "alt_id": [], "def": "An increased concentration of vanillylmandelic acid in the urine.", "synonym": [ [ "increased urinary vanillylmandelic acid", "increase urinary vanillylmandelic acid" ] ], "xref": [ "UMLS:C4020735" ], "is_a": [ "HP:0040156" ], "is_obsolete": "", "replace_id": "" }, "HP:0011979": { "name": [ "elevated urinary dopamine", "elevate urinary dopamine" ], "alt_id": [], "def": "An increased concentration of dopamine in the urine.", "synonym": [ [ "elevated urinary dopamine", "elevate urinary dopamine" ] ], "xref": [ "UMLS:C4023099" ], "is_a": [ "HP:0011976" ], "is_obsolete": "", "replace_id": "" }, "HP:0011980": { "name": [ "cholesterol gallstones", "cholesterol gallstone" ], "alt_id": [], "def": "Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.", "synonym": [], "xref": [ "UMLS:C0856727" ], "is_a": [ "HP:0001081" ], "is_obsolete": "", "replace_id": "" }, "HP:0011981": { "name": [ "pigment gallstones", "pigment gallstone" ], "alt_id": [], "def": "Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.", "synonym": [], "xref": [ "UMLS:C3278865" ], "is_a": [ "HP:0001081" ], "is_obsolete": "", "replace_id": "" }, "HP:0011982": { "name": [ "black pigment gallstones", "black pigment gallstone" ], "alt_id": [], "def": "A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.", "synonym": [], "xref": [ "UMLS:C4023098" ], "is_a": [ "HP:0011981" ], "is_obsolete": "", "replace_id": "" }, "HP:0011983": { "name": [ "brown pigment gallstones", "brown pigment gallstone" ], "alt_id": [], "def": "A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.", "synonym": [], "xref": [ "UMLS:C4023097" ], "is_a": [ "HP:0011981" ], "is_obsolete": "", "replace_id": "" }, "HP:0011984": { "name": [ "atretic gallbladder", "atretic gallbladder" ], "alt_id": [], "def": "Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.", "synonym": [ [ "gallbladder atresia", "gallbladder atresia" ] ], "xref": [ "UMLS:C3277945" ], "is_a": [ "HP:0011466" ], "is_obsolete": "", "replace_id": "" }, "HP:0011985": { "name": [ "acholic stools", "acholic stool" ], "alt_id": [ "HP:0200112" ], "def": "Clay colored stools lacking bile pigment.", "synonym": [ [ "acholia", "acholia" ], [ "clay colored stools", "clay color stool" ], [ "clay coloured stools", "clay colour stool" ], [ "discolored , acholic stools", "discolor , acholic stool" ] ], "xref": [ "SNOMEDCT_US:70396004", "UMLS:C2675627" ], "is_a": [ "HP:0001396" ], "is_obsolete": "", "replace_id": "" }, "HP:0011986": { "name": [ "ectopic ossification", "ectopic ossification" ], "alt_id": [], "def": "Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.", "synonym": [ [ "ectopic bone formation", "ectopic bone formation" ], [ "heterotopic ossification", "heterotopic ossification" ] ], "xref": [ "MEDDRA:10065453 \"Ectopic ossification\"", "MSH:D009999", "SNOMEDCT_US:128491006", "UMLS:C0029396" ], "is_a": [ "HP:0011849" ], "is_obsolete": "", "replace_id": "" }, "HP:0011987": { "name": [ "ectopic ossification in muscle tissue", "ectopic ossification in muscle tissue" ], "alt_id": [], "def": "Formation of abnormal bony tissue within muscle tissue.", "synonym": [ [ "calcification of muscle tissue", "calcification of muscle tissue" ] ], "xref": [ "UMLS:C4023096" ], "is_a": [ "HP:0011986" ], "is_obsolete": "", "replace_id": "" }, "HP:0011988": { "name": [ "ectopic ossification in tendon tissue", "ectopic ossification in tendon tissue" ], "alt_id": [], "def": "Formation of abnormal bony tissue within tendon tissue.", "synonym": [], "xref": [ "UMLS:C4023095" ], "is_a": [ "HP:0011986" ], "is_obsolete": "", "replace_id": "" }, "HP:0011989": { "name": [ "ectopic ossification in ligament tissue", "ectopic ossification in ligament tissue" ], "alt_id": [], "def": "Formation of abnormal bony tissue within ligament tissue.", "synonym": [], "xref": [ "UMLS:C4023094" ], "is_a": [ "HP:0011986" ], "is_obsolete": "", "replace_id": "" }, "HP:0011990": { "name": [ "abnormality of neutrophil physiology", "abnormality of neutrophil physiology" ], "alt_id": [], "def": "A functional abnormality of neutrophils.", "synonym": [], "xref": [ "UMLS:C4023093" ], "is_a": [ "HP:0001874" ], "is_obsolete": "", "replace_id": "" }, "HP:0011991": { "name": [ "abnormal neutrophil count", "abnormal neutrophil count" ], "alt_id": [], "def": "A deviation from the normal range of neutrophil cell counts in the circulation.", "synonym": [ [ "abnormal neutrophil cell number", "abnormal neutrophil cell number" ] ], "xref": [ "UMLS:C4023092" ], "is_a": [ "HP:0001874", "HP:0032309" ], "is_obsolete": "", "replace_id": "" }, "HP:0011992": { "name": [ "abnormality of neutrophil morphology", "abnormality of neutrophil morphology" ], "alt_id": [], "def": "An abnormal form or size of neutrophils.", "synonym": [], "xref": [ "UMLS:C4023091" ], "is_a": [ "HP:0001874" ], "is_obsolete": "", "replace_id": "" }, "HP:0011993": { "name": [ "impaired neutrophil bactericidal activity", "impaired neutrophil bactericidal activity" ], "alt_id": [], "def": "A reduction in the ability of neutrophils to kill bacteria.", "synonym": [], "xref": [ "UMLS:C4023090" ], "is_a": [ "HP:0011990" ], "is_obsolete": "", "replace_id": "" }, "HP:0011994": { "name": [ "abnormal atrial septum morphology", "abnormal atrial septum morphology" ], "alt_id": [], "def": "An abnormality of the interatrial septum.", "synonym": [ [ "abnormal interatrial septum morphology", "abnormal interatrial septum morphology" ], [ "abnormality of the atrial septum", "abnormality of the atrial septum" ] ], "xref": [ "Fyler:2002", "SNOMEDCT_US:253363004", "UMLS:C0344722" ], "is_a": [ "HP:0001671" ], "is_obsolete": "", "replace_id": "" }, "HP:0011995": { "name": [ "atrial septal dilatation", "atrial septal dilatation" ], "alt_id": [], "def": "A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.", "synonym": [ [ "atrial septal aneurysm", "atrial septal aneurysm" ] ], "xref": [ "SNOMEDCT_US:95440004", "UMLS:C0521533" ], "is_a": [ "HP:0011994" ], "is_obsolete": "", "replace_id": "" }, "HP:0011996": { "name": [ "elevated coagulation factor v activity", "elevate coagulation factor v activity" ], "alt_id": [], "def": "Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.", "synonym": [ [ "elevated factor v activity", "elevate factor v activity" ], [ "plasma factor v elevated", "plasma factor v elevate" ] ], "xref": [ "UMLS:C4021106" ], "is_a": [ "HP:0031899" ], "is_obsolete": "", "replace_id": "" }, "HP:0011997": { "name": [ "postprandial hyperlactemia", "postprandial hyperlactemia" ], "alt_id": [], "def": "Abnormally increased level of blood lactate following a meal.", "synonym": [], "xref": [ "UMLS:C4023089" ], "is_a": [ "HP:0002151" ], "is_obsolete": "", "replace_id": "" }, "HP:0011998": { "name": [ "postprandial hyperglycemia", "postprandial hyperglycemia" ], "alt_id": [], "def": "An increased concentration of glucose in the blood following a meal.", "synonym": [], "xref": [ "MSH:D006943", "UMLS:C1855520" ], "is_a": [ "HP:0003074" ], "is_obsolete": "", "replace_id": "" }, "HP:0011999": { "name": [ "paranoia", "paranoia" ], "alt_id": [], "def": "A persecutory delusion of supposed hostility of others.", "synonym": [ [ "paranoia", "paranoia" ] ], "xref": [ "MSH:D010259", "SNOMEDCT_US:191667009", "UMLS:C1456784" ], "is_a": [ "HP:0000746" ], "is_obsolete": "", "replace_id": "" }, "HP:0012000": { "name": [ "eeg with generalized spikes", "eeg with generalized spike" ], "alt_id": [], "def": "EEG with generalized sharp transient waves of a duration less than 80 msec.", "synonym": [ [ "eeg with generalised spikes", "eeg with generalised spike" ] ], "xref": [ "UMLS:C2206531" ], "is_a": [ "HP:0011198" ], "is_obsolete": "", "replace_id": "" }, "HP:0012001": { "name": [ "eeg with generalized polyspikes", "eeg with generalized polyspikes" ], "alt_id": [], "def": "EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.", "synonym": [ [ "eeg with generalised polyspikes", "eeg with generalised polyspikes" ] ], "xref": [ "UMLS:C4023088" ], "is_a": [ "HP:0011198" ], "is_obsolete": "", "replace_id": "" }, "HP:0012002": { "name": [ "experiential epileptic aura", "experiential epileptic aura" ], "alt_id": [], "def": "Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.", "synonym": [ [ "experiential aura", "experiential aura" ], [ "experiential auras", "experiential aura" ] ], "xref": [ "UMLS:C4023087" ], "is_a": [ "HP:0033346" ], "is_obsolete": "", "replace_id": "" }, "HP:0012003": { "name": [ "affective epileptic aura", "affective epileptic aura" ], "alt_id": [], "def": "Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.", "synonym": [ [ "affective aura", "affective aura" ], [ "affective auras", "affective aura" ], [ "emotional aura", "emotional aura" ] ], "xref": [ "UMLS:C4023086" ], "is_a": [ "HP:0033346" ], "is_obsolete": "", "replace_id": "" }, "HP:0012004": { "name": [ "focal cognitive seizure with deja vu / jamais vu", "focal cognitive seizure with deja vu / jamais vu" ], "alt_id": [ "HP:0032697" ], "def": "A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.", "synonym": [ [ "mnemonic aura", "mnemonic aura" ], [ "mnemonic auras", "mnemonic aura" ] ], "xref": [ "UMLS:C4023085" ], "is_a": [ "HP:0012002", "HP:0032680" ], "is_obsolete": "", "replace_id": "" }, "HP:0012005": { "name": [ "deja vu aura", "deja vu aura" ], "alt_id": [], "def": "A subjective feeling that an experience which is occurring for the first time has been experienced before.", "synonym": [ [ "deja vu", "deja vu" ] ], "xref": [ "MSH:D003690", "SNOMEDCT_US:313005", "UMLS:C0011194" ], "is_a": [ "HP:0012004" ], "is_obsolete": "", "replace_id": "" }, "HP:0012006": { "name": [ "jamais vu aura", "jamais vu aura" ], "alt_id": [], "def": "A subjective feeling that an experience which has occurred before is being experienced for the first time.", "synonym": [ [ "jamais vu", "jamais vu" ] ], "xref": [ "SNOMEDCT_US:28249008", "UMLS:C0233803" ], "is_a": [ "HP:0012004" ], "is_obsolete": "", "replace_id": "" }, "HP:0012007": { "name": [ "focal cognitive seizure with hallucination", "focal cognitive seizure with hallucination" ], "alt_id": [ "HP:0032703" ], "def": "A focal cognitive seizure characterized by hallucination as the initial semiological manifestation.", "synonym": [ [ "hallucinatory aura", "hallucinatory aura" ], [ "hallucinatory auras", "hallucinatory aura" ] ], "xref": [ "UMLS:C4023084" ], "is_a": [ "HP:0032680", "HP:0033347" ], "is_obsolete": "", "replace_id": "" }, "HP:0012008": { "name": [ "focal cognitive seizure with illusion", "focal cognitive seizure with illusion" ], "alt_id": [ "HP:0032695" ], "def": "A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation.", "synonym": [ [ "illusory aura", "illusory aura" ], [ "illusory auras", "illusory aura" ] ], "xref": [ "UMLS:C4023083" ], "is_a": [ "HP:0032680", "HP:0033347" ], "is_obsolete": "", "replace_id": "" }, "HP:0012009": { "name": [ "eeg with central focal spike waves", "eeg with central focal spike wave" ], "alt_id": [], "def": "EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.", "synonym": [], "xref": [ "UMLS:C4023082" ], "is_a": [ "HP:0011197", "HP:0033718" ], "is_obsolete": "", "replace_id": "" }, "HP:0012010": { "name": [ "eeg with frontal focal spike waves", "eeg with frontal focal spike wave" ], "alt_id": [], "def": "EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.", "synonym": [], "xref": [ "UMLS:C4023081" ], "is_a": [ "HP:0011197", "HP:0033716" ], "is_obsolete": "", "replace_id": "" }, "HP:0012011": { "name": [ "eeg with occipital focal spike waves", "eeg with occipital focal spike wave" ], "alt_id": [], "def": "EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.", "synonym": [], "xref": [ "UMLS:C4023080" ], "is_a": [ "HP:0011197", "HP:0033720" ], "is_obsolete": "", "replace_id": "" }, "HP:0012012": { "name": [ "eeg with parietal focal spike waves", "eeg with parietal focal spike wave" ], "alt_id": [], "def": "EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.", "synonym": [], "xref": [ "UMLS:C4023079" ], "is_a": [ "HP:0011197", "HP:0033719" ], "is_obsolete": "", "replace_id": "" }, "HP:0012013": { "name": [ "eeg with temporal focal spike waves", "eeg with temporal focal spike wave" ], "alt_id": [], "def": "EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.", "synonym": [], "xref": [ "UMLS:C4023078" ], "is_a": [ "HP:0011197", "HP:0033717" ], "is_obsolete": "", "replace_id": "" }, "HP:0012014": { "name": [ "eeg with central focal spikes", "eeg with central focal spike" ], "alt_id": [], "def": "EEG with focal sharp transient waves of a duration less than 80 msec in the central region.", "synonym": [], "xref": [ "UMLS:C4023077" ], "is_a": [ "HP:0011193", "HP:0033718" ], "is_obsolete": "", "replace_id": "" }, "HP:0012015": { "name": [ "eeg with frontal focal spikes", "eeg with frontal focal spike" ], "alt_id": [], "def": "EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region.", "synonym": [], "xref": [ "UMLS:C4023076" ], "is_a": [ "HP:0011193", "HP:0033716" ], "is_obsolete": "", "replace_id": "" }, "HP:0012016": { "name": [ "eeg with occipital focal spikes", "eeg with occipital focal spike" ], "alt_id": [], "def": "EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region.", "synonym": [], "xref": [ "UMLS:C4023075" ], "is_a": [ "HP:0011193", "HP:0033720" ], "is_obsolete": "", "replace_id": "" }, "HP:0012017": { "name": [ "eeg with parietal focal spikes", "eeg with parietal focal spike" ], "alt_id": [], "def": "EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region.", "synonym": [], "xref": [ "UMLS:C4023074" ], "is_a": [ "HP:0011193", "HP:0033719" ], "is_obsolete": "", "replace_id": "" }, "HP:0012018": { "name": [ "eeg with temporal focal spikes", "eeg with temporal focal spike" ], "alt_id": [], "def": "EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region.", "synonym": [], "xref": [ "UMLS:C4023073" ], "is_a": [ "HP:0011193", "HP:0033717" ], "is_obsolete": "", "replace_id": "" }, "HP:0012019": { "name": [ "lens luxation", "lens luxation" ], "alt_id": [], "def": "Complete dislocation of the lens of the eye.", "synonym": [ [ "dislocated lens", "dislocate lens" ], [ "dislocated lenses", "dislocate lens" ] ], "xref": [ "MSH:D007906", "UMLS:C0023309" ], "is_a": [ "HP:0001083" ], "is_obsolete": "", "replace_id": "" }, "HP:0012020": { "name": [ "right aortic arch", "right aortic arch" ], "alt_id": [], "def": "Aorta descends on right instead of on the left.", "synonym": [ [ "right - sided aortic arch", "right - side aortic arch" ] ], "xref": [ "Fyler:2720", "SNOMEDCT_US:111321007", "SNOMEDCT_US:244229003", "UMLS:C0035615" ], "is_a": [ "HP:0011587" ], "is_obsolete": "", "replace_id": "" }, "HP:0012021": { "name": [ "persistent patent ductus venosus", "persistent patent ductus venosus" ], "alt_id": [], "def": "Persistence of blood flow through the ductus venosus for longer than the normal time after birth.", "synonym": [], "xref": [ "UMLS:C4023072" ], "is_a": [ "HP:0010948" ], "is_obsolete": "", "replace_id": "" }, "HP:0012022": { "name": [ "congenital portosystemic venous shunt", "congenital portosystemic venous shunt" ], "alt_id": [], "def": "A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).", "synonym": [], "xref": [ "MSH:C562830", "SNOMEDCT_US:253330006", "UMLS:C0344688" ], "is_a": [ "HP:0010948" ], "is_obsolete": "", "replace_id": "" }, "HP:0012023": { "name": [ "galactosuria", "galactosuria" ], "alt_id": [], "def": "Elevated concentration of galactose in the urine.", "synonym": [ [ "increased urinary galactose level", "increase urinary galactose level" ] ], "xref": [ "SNOMEDCT_US:71690006", "UMLS:C0268157" ], "is_a": [ "HP:0031979" ], "is_obsolete": "", "replace_id": "" }, "HP:0012024": { "name": [ "hypergalactosemia", "hypergalactosemia" ], "alt_id": [], "def": "Elevated concentration of galactose in the blood.", "synonym": [ [ "galactosemia", "galactosemia" ] ], "xref": [ "MSH:D005693", "SNOMEDCT_US:190745006", "SNOMEDCT_US:190749000", "UMLS:C0016952", "UMLS:C4023071" ], "is_a": [ "HP:0011013" ], "is_obsolete": "", "replace_id": "" }, "HP:0012025": { "name": [ "abnormal circulating ornithine concentration", "abnormal circulate ornithine concentration" ], "alt_id": [], "def": "Deviation from the normal concentration of ornithine in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4023070" ], "is_a": [ "HP:0033109" ], "is_obsolete": "", "replace_id": "" }, "HP:0012026": { "name": [ "hyperornithinemia", "hyperornithinemia" ], "alt_id": [], "def": "Increased concentration of ornithine in the blood.", "synonym": [ [ "high blood ornithine levels", "high blood ornithine level" ] ], "xref": [ "MSH:D015799", "SNOMEDCT_US:276426004", "SNOMEDCT_US:33985005", "UMLS:C0599035" ], "is_a": [ "HP:0012025" ], "is_obsolete": "", "replace_id": "" }, "HP:0012027": { "name": [ "laryngeal edema", "laryngeal edema" ], "alt_id": [], "def": "An abnormal accumulation of fluid and swelling in the tissues of the larynx.", "synonym": [ [ "laryngeal oedema", "laryngeal oedema" ] ], "xref": [ "MSH:D007819", "SNOMEDCT_US:51599000", "UMLS:C0023052" ], "is_a": [ "HP:0000969", "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0012028": { "name": [ "hepatocellular adenoma", "hepatocellular adenoma" ], "alt_id": [], "def": "A benign tumor of the liver of presumably epithelial origin.", "synonym": [ [ "hepatic adenoma", "hepatic adenoma" ], [ "liver cell adenoma", "liver cell adenoma" ] ], "xref": [ "MPATH:353 \"hepatocellular adenoma\"", "MSH:D018248", "SNOMEDCT_US:424263008", "SNOMEDCT_US:78058005", "UMLS:C0206669" ], "is_a": [ "HP:0002896" ], "is_obsolete": "", "replace_id": "" }, "HP:0012029": { "name": [ "abnormal urine hormone level", "abnormal urine hormone level" ], "alt_id": [], "def": "An abnormal concentration of a hormone in the urine.", "synonym": [ [ "abnormality of urine hormone level", "abnormality of urine hormone level" ] ], "xref": [ "UMLS:C4023069" ], "is_a": [ "HP:0000818" ], "is_obsolete": "", "replace_id": "" }, "HP:0012030": { "name": [ "increased urinary cortisol level", "increase urinary cortisol level" ], "alt_id": [], "def": "Abnormally increased concentration of cortisol in the urine.", "synonym": [ [ "high urine cortisol level", "high urine cortisol level" ] ], "xref": [ "UMLS:C4023068" ], "is_a": [ "HP:0012029" ], "is_obsolete": "", "replace_id": "" }, "HP:0012031": { "name": [ "lipomatous tumor", "lipomatous tumor" ], "alt_id": [], "def": "", "synonym": [ [ "lipomatous tumour", "lipomatous tumour" ] ], "xref": [ "MPATH:415 \"lipomatous tumor\"", "MSH:D018205", "SNOMEDCT_US:115227001", "SNOMEDCT_US:254827004", "SNOMEDCT_US:254831005", "UMLS:C0206631" ], "is_a": [ "HP:0200013" ], "is_obsolete": "", "replace_id": "" }, "HP:0012032": { "name": [ "lipoma", "lipoma" ], "alt_id": [], "def": "Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.", "synonym": [ [ "fatty lump", "fatty lump" ], [ "noncancerous fatty lump", "noncancerous fatty lump" ] ], "xref": [ "MEDDRA:10024612 \"Lipoma\"", "MPATH:417 \"lipoma\"", "MSH:D008067", "SNOMEDCT_US:46720004", "SNOMEDCT_US:93163002", "UMLS:C0023798" ], "is_a": [ "HP:0012031" ], "is_obsolete": "", "replace_id": "" }, "HP:0012033": { "name": [ "sacral lipoma", "sacral lipoma" ], "alt_id": [], "def": "Presence of a lipoma in the region of the sacrum.", "synonym": [], "xref": [ "UMLS:C4021835" ], "is_a": [ "HP:0012032" ], "is_obsolete": "", "replace_id": "" }, "HP:0012034": { "name": [ "liposarcoma", "liposarcoma" ], "alt_id": [], "def": "Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway.", "synonym": [], "xref": [ "MPATH:418 \"Liposarcoma\"", "MSH:D008080", "SNOMEDCT_US:254829001", "SNOMEDCT_US:49430005", "UMLS:C0023827" ], "is_a": [ "HP:0012031" ], "is_obsolete": "", "replace_id": "" }, "HP:0012035": { "name": [ "steatocystoma multiplex", "steatocystoma multiplex" ], "alt_id": [], "def": "Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities).", "synonym": [], "xref": [ "MSH:D062685", "SNOMEDCT_US:109433009", "UMLS:C0259771" ], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0012036": { "name": [ "sternocleidomastoid amyotrophy", "sternocleidomastoid amyotrophy" ], "alt_id": [], "def": "Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.", "synonym": [], "xref": [ "UMLS:C4023067" ], "is_a": [ "HP:0003202" ], "is_obsolete": "", "replace_id": "" }, "HP:0012037": { "name": [ "pectoralis amyotrophy", "pectoralis amyotrophy" ], "alt_id": [], "def": "Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor.", "synonym": [ [ "wasting of pec muscles", "wasting of pec muscle" ] ], "xref": [ "UMLS:C4023066" ], "is_a": [ "HP:0003202", "HP:0011957" ], "is_obsolete": "", "replace_id": "" }, "HP:0012038": { "name": [ "corneal guttata", "corneal guttata" ], "alt_id": [], "def": "Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.", "synonym": [ [ "corneal endothelial guttata", "corneal endothelial guttata" ] ], "xref": [ "SNOMEDCT_US:373424008", "UMLS:C0271288" ], "is_a": [ "HP:0011490" ], "is_obsolete": "", "replace_id": "" }, "HP:0012039": { "name": [ "descemet membrane folds", "descemet membrane fold" ], "alt_id": [], "def": "Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea.", "synonym": [], "xref": [ "SNOMEDCT_US:193821003", "UMLS:C0155116" ], "is_a": [ "HP:0011490" ], "is_obsolete": "", "replace_id": "" }, "HP:0012040": { "name": [ "corneal stromal edema", "corneal stromal edema" ], "alt_id": [], "def": "Abnormal accumulation of fluid and swelling of the stroma of cornea.", "synonym": [ [ "corneal stromal oedema", "corneal stromal oedema" ] ], "xref": [ "SNOMEDCT_US:373430008", "UMLS:C0474444" ], "is_a": [ "HP:0000969", "HP:0011492" ], "is_obsolete": "", "replace_id": "" }, "HP:0012041": { "name": [ "decreased fertility in males", "decrease fertility in male" ], "alt_id": [], "def": "", "synonym": [ [ "decreased fertility in males", "decrease fertility in male" ] ], "xref": [ "UMLS:C0151640" ], "is_a": [ "HP:0000144" ], "is_obsolete": "", "replace_id": "" }, "HP:0012042": { "name": [ "aspirin - induced asthma", "aspirin - induced asthma" ], "alt_id": [], "def": "A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction.", "synonym": [ [ "aspirin - induced asthma", "aspirin - induced asthma" ] ], "xref": [ "MSH:D055963", "SNOMEDCT_US:407674008", "UMLS:C1319853" ], "is_a": [ "HP:0002099" ], "is_obsolete": "", "replace_id": "" }, "HP:0012043": { "name": [ "pendular nystagmus", "pendular nystagmus" ], "alt_id": [], "def": "Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.", "synonym": [ [ "nystagmus , continuous pendular", "nystagmus , continuous pendular" ], [ "nystagmus , pendular", "nystagmus , pendular" ] ], "xref": [ "MSH:D009759", "SNOMEDCT_US:35743001", "UMLS:C0271388", "UMLS:C4020734" ], "is_a": [ "HP:0000639" ], "is_obsolete": "", "replace_id": "" }, "HP:0012044": { "name": [ "seesaw nystagmus", "seesaw nystagmus" ], "alt_id": [], "def": "Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.", "synonym": [], "xref": [ "MSH:D009759", "SNOMEDCT_US:95782001", "UMLS:C0344243" ], "is_a": [ "HP:0012043" ], "is_obsolete": "", "replace_id": "" }, "HP:0012045": { "name": [ "retinal flecks", "retinal fleck" ], "alt_id": [], "def": "Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.", "synonym": [], "xref": [ "SNOMEDCT_US:247138002", "UMLS:C0423414" ], "is_a": [ "HP:0030506" ], "is_obsolete": "", "replace_id": "" }, "HP:0012046": { "name": [ "areflexia of upper limbs", "areflexia of upper limb" ], "alt_id": [], "def": "Inability to elicit tendon reflexes in the upper limbs.", "synonym": [], "xref": [ "UMLS:C2674177" ], "is_a": [ "HP:0001284", "HP:0002817" ], "is_obsolete": "", "replace_id": "" }, "HP:0012047": { "name": [ "hemeralopia", "hemeralopia" ], "alt_id": [], "def": "A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.", "synonym": [ [ "day blindness", "day blindness" ] ], "xref": [ "MSH:D014786", "SNOMEDCT_US:399323001", "UMLS:C0018975" ], "is_a": [ "HP:0000504" ], "is_obsolete": "", "replace_id": "" }, "HP:0012048": { "name": [ "oromandibular dystonia", "oromandibular dystonia" ], "alt_id": [ "HP:0001494" ], "def": "A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.", "synonym": [ [ "cranial dystonia", "cranial dystonia" ] ], "xref": [ "UMLS:C2242577" ], "is_a": [ "HP:0012179" ], "is_obsolete": "", "replace_id": "" }, "HP:0012049": { "name": [ "laryngeal dystonia", "laryngeal dystonia" ], "alt_id": [], "def": "A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.", "synonym": [ [ "spasmodic dysphonia", "spasmodic dysphonia" ] ], "xref": [ "SNOMEDCT_US:3331000119108", "UMLS:C1963946" ], "is_a": [ "HP:0001618", "HP:0004373" ], "is_obsolete": "", "replace_id": "" }, "HP:0012050": { "name": [ "anasarca", "anasarca" ], "alt_id": [], "def": "An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.", "synonym": [ [ "extreme generalised oedema", "extreme generalise oedema" ], [ "extreme generalized edema", "extreme generalize edema" ] ], "xref": [ "MSH:D004487", "SNOMEDCT_US:16740003", "SNOMEDCT_US:442433009", "UMLS:C0151603" ], "is_a": [ "HP:0007430" ], "is_obsolete": "", "replace_id": "" }, "HP:0012051": { "name": [ "reactive hypoglycemia", "reactive hypoglycemia" ], "alt_id": [], "def": "Hypoglycermia following a meal (or more generally, after intake of glucose).", "synonym": [ [ "low blood sugar after a meal", "low blood sugar after a meal" ], [ "postprandial hypoglycemia", "postprandial hypoglycemia" ] ], "xref": [ "MSH:D007003", "SNOMEDCT_US:237638000", "SNOMEDCT_US:317006", "UMLS:C0271710" ], "is_a": [ "HP:0001943" ], "is_obsolete": "", "replace_id": "" }, "HP:0012052": { "name": [ "low serum calcitriol", "low serum calcitriol" ], "alt_id": [], "def": "A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.", "synonym": [ [ "low serum 1,25 - dihydroxycholecalciferol", "low serum 1,25 - dihydroxycholecalciferol" ], [ "low serum 1,25 - dihydroxyvitamin d3", "low serum 1,25 - dihydroxyvitamin d3" ] ], "xref": [ "UMLS:C4023065" ], "is_a": [ "HP:0100511" ], "is_obsolete": "", "replace_id": "" }, "HP:0012053": { "name": [ "decreased circulating calcifediol concentration", "decrease circulate calcifediol concentration" ], "alt_id": [], "def": "A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3.", "synonym": [ [ "decreased 25 - hydroxyvitamin d3", "decrease 25 - hydroxyvitamin d3" ], [ "low serum 25 - hydroxycholecalciferol", "low serum 25 - hydroxycholecalciferol" ], [ "low serum calcidiol", "low serum calcidiol" ], [ "low serum calcifediol", "low serum calcifediol" ] ], "xref": [ "UMLS:C4023064" ], "is_a": [ "HP:0100511" ], "is_obsolete": "", "replace_id": "" }, "HP:0012054": { "name": [ "choroidal melanoma", "choroidal melanoma" ], "alt_id": [], "def": "Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented).", "synonym": [], "xref": [ "NCIT:C3224", "SNOMEDCT_US:255021005", "UMLS:C0346388" ], "is_a": [ "HP:0007716" ], "is_obsolete": "", "replace_id": "" }, "HP:0012055": { "name": [ "ciliary body melanoma", "ciliary body melanoma" ], "alt_id": [], "def": "Malignant tumor of melanocytes of the ciliary body.", "synonym": [], "xref": [ "NCIT:C3224", "SNOMEDCT_US:255015006", "UMLS:C0346379" ], "is_a": [ "HP:0007716", "HP:0012776" ], "is_obsolete": "", "replace_id": "" }, "HP:0012056": { "name": [ "cutaneous melanoma", "cutaneous melanoma" ], "alt_id": [], "def": "The presence of a melanoma of the skin.", "synonym": [], "xref": [ "MSH:D008545", "NCIT:C3224", "SNOMEDCT_US:2092003", "SNOMEDCT_US:372244006", "UMLS:C0025202" ], "is_a": [ "HP:0002861", "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0012057": { "name": [ "superficial spreading melanoma", "superficial spreading melanoma" ], "alt_id": [], "def": "A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown.", "synonym": [], "xref": [ "SNOMEDCT_US:254730000", "SNOMEDCT_US:55320002", "UMLS:C0334438" ], "is_a": [ "HP:0012056" ], "is_obsolete": "", "replace_id": "" }, "HP:0012058": { "name": [ "nodular melanoma", "nodular melanoma" ], "alt_id": [], "def": "A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color.", "synonym": [], "xref": [ "SNOMEDCT_US:2142002", "SNOMEDCT_US:254731001", "UMLS:C0334424" ], "is_a": [ "HP:0012056" ], "is_obsolete": "", "replace_id": "" }, "HP:0012059": { "name": [ "lentigo maligna melanoma", "lentigo maligna melanoma" ], "alt_id": [], "def": "A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging.", "synonym": [], "xref": [ "SNOMEDCT_US:302837001", "SNOMEDCT_US:44474009", "UMLS:C2739810" ], "is_a": [ "HP:0012056" ], "is_obsolete": "", "replace_id": "" }, "HP:0012060": { "name": [ "acral lentiginous melanoma", "acral lentiginous melanoma" ], "alt_id": [], "def": "A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed.", "synonym": [], "xref": [ "SNOMEDCT_US:16974005", "SNOMEDCT_US:254732008", "UMLS:C0346037" ], "is_a": [ "HP:0012056" ], "is_obsolete": "", "replace_id": "" }, "HP:0012061": { "name": [ "urinary excretion of sialylated oligosaccharides", "urinary excretion of sialylated oligosaccharide" ], "alt_id": [], "def": "Excretion of oligosaccharides conjugated to sialic acid in the urine.", "synonym": [ [ "increased urinary sialyloligosaccharides", "increase urinary sialyloligosaccharides" ] ], "xref": [ "UMLS:C2673302" ], "is_a": [ "HP:0010471" ], "is_obsolete": "", "replace_id": "" }, "HP:0012062": { "name": [ "bone cyst", "bone cyst" ], "alt_id": [ "HP:0100696" ], "def": "A fluid filled cavity that develops with a bone.", "synonym": [ [ "bone cyst", "bone cyst" ], [ "bone cysts", "bone cyst" ] ], "xref": [ "MSH:D001845", "SNOMEDCT_US:112643007", "SNOMEDCT_US:203465002", "SNOMEDCT_US:203467005", "SNOMEDCT_US:66954000", "UMLS:C0005937" ], "is_a": [ "HP:0003330" ], "is_obsolete": "", "replace_id": "" }, "HP:0012063": { "name": [ "aneurysmal bone cyst", "aneurysmal bone cyst" ], "alt_id": [], "def": "Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging.", "synonym": [], "xref": [ "MSH:D017824", "SNOMEDCT_US:203468000", "SNOMEDCT_US:76000001", "UMLS:C0152244" ], "is_a": [ "HP:0012062" ], "is_obsolete": "", "replace_id": "" }, "HP:0012064": { "name": [ "unicameral bone cyst", "unicameral bone cyst" ], "alt_id": [], "def": "A benign fluid filled simple cyst of bone filled with serous fluid.", "synonym": [], "xref": [ "SNOMEDCT_US:112643007", "SNOMEDCT_US:203467005", "UMLS:C4082185" ], "is_a": [ "HP:0012062" ], "is_obsolete": "", "replace_id": "" }, "HP:0012065": { "name": [ "multiple bony cystic lesions", "multiple bony cystic lesion" ], "alt_id": [], "def": "Presence of multiple cystic changes in multiple areas or multiple bones.", "synonym": [ [ "multiple bony cystic lesions", "multiple bony cystic lesion" ] ], "xref": [ "UMLS:C4023063" ], "is_a": [ "HP:0012062" ], "is_obsolete": "", "replace_id": "" }, "HP:0012066": { "name": [ "increased urinary disaccharide excretion", "increase urinary disaccharide excretion" ], "alt_id": [], "def": "Increased concentration of disaccharide in the urine.", "synonym": [], "xref": [ "UMLS:C4023062" ], "is_a": [ "HP:0010471" ], "is_obsolete": "", "replace_id": "" }, "HP:0012067": { "name": [ "glycopeptiduria", "glycopeptiduria" ], "alt_id": [], "def": "Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues.", "synonym": [ [ "high urine glycopeptide levels", "high urine glycopeptide level" ] ], "xref": [ "UMLS:C4023061" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0012068": { "name": [ "aspartylglucosaminuria", "aspartylglucosaminuria" ], "alt_id": [], "def": "Excretion of excess amounts of aspartylglucosamine in the urine.", "synonym": [ [ "high urine aspartylglucosamine levels", "high urine aspartylglucosamine level" ] ], "xref": [ "MSH:D054880", "SNOMEDCT_US:54954004", "UMLS:C0268225" ], "is_a": [ "HP:0012067" ], "is_obsolete": "", "replace_id": "" }, "HP:0012069": { "name": [ "keratan sulfate excretion in urine", "keratan sulfate excretion in urine" ], "alt_id": [], "def": "An increased concentration of keratan sulfate in the urine.", "synonym": [ [ "keratan sulphate excretion in urine", "keratan sulphate excretion in urine" ] ], "xref": [ "UMLS:C4023060" ], "is_a": [ "HP:0008155" ], "is_obsolete": "", "replace_id": "" }, "HP:0012070": { "name": [ "chondroitin sulfate excretion in urine", "chondroitin sulfate excretion in urine" ], "alt_id": [], "def": "An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.", "synonym": [ [ "chondroitin sulphate excretion in urine", "chondroitin sulphate excretion in urine" ] ], "xref": [ "UMLS:C4023059" ], "is_a": [ "HP:0008155" ], "is_obsolete": "", "replace_id": "" }, "HP:0012071": { "name": [ "abnormal circulating acetylcarnitine concentration", "abnormal circulate acetylcarnitine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.", "synonym": [ [ "abnormal acetylcarnitine profile", "abnormal acetylcarnitine profile" ], [ "abnormal circulating esterified carnitine concentration", "abnormal circulate esterified carnitine concentration" ] ], "xref": [ "UMLS:C4020733", "UMLS:C4023058" ], "is_a": [ "HP:0010967" ], "is_obsolete": "", "replace_id": "" }, "HP:0012072": { "name": [ "aciduria", "aciduria" ], "alt_id": [], "def": "Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.", "synonym": [ [ "acidic urine", "acidic urine" ] ], "xref": [ "SNOMEDCT_US:21806007", "UMLS:C0278026" ], "is_a": [ "HP:0032943" ], "is_obsolete": "", "replace_id": "" }, "HP:0012073": { "name": [ "abnormal urinary acylglycine profile", "abnormal urinary acylglycine profile" ], "alt_id": [], "def": "An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution.", "synonym": [], "xref": [ "UMLS:C4023057" ], "is_a": [ "HP:0033097" ], "is_obsolete": "", "replace_id": "" }, "HP:0012074": { "name": [ "tonic pupil", "tonic pupil" ], "alt_id": [], "def": "An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation.", "synonym": [ [ "adie pupil", "adie pupil" ], [ "adie 's tonic pupil", "adie 's tonic pupil" ] ], "xref": [ "MSH:D015845", "SNOMEDCT_US:24225004", "UMLS:C0040416" ], "is_a": [ "HP:0007686" ], "is_obsolete": "", "replace_id": "" }, "HP:0012075": { "name": [ "personality disorder", "personality disorder" ], "alt_id": [], "def": "An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder.", "synonym": [], "xref": [ "ICD-10:F60 \"Specific personality disorders\"", "MSH:D010554", "SNOMEDCT_US:33449004", "UMLS:C0031212" ], "is_a": [ "HP:0031466" ], "is_obsolete": "", "replace_id": "" }, "HP:0012076": { "name": [ "borderline personality disorder", "borderline personality disorder" ], "alt_id": [], "def": "A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions.", "synonym": [], "xref": [ "ICD-10:F60.3 \"Emotionally unstable personality disorder, borderline type\"", "MSH:D001883", "SNOMEDCT_US:20010003", "UMLS:C0006012" ], "is_a": [ "HP:0012075" ], "is_obsolete": "", "replace_id": "" }, "HP:0012077": { "name": [ "histrionic personality disorder", "histrionic personality disorder" ], "alt_id": [], "def": "A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention.", "synonym": [], "xref": [ "ICD-10:F60.4 \"Histrionic personality disorder\"", "MSH:D006677", "SNOMEDCT_US:55341008", "UMLS:C0019681" ], "is_a": [ "HP:0012075" ], "is_obsolete": "", "replace_id": "" }, "HP:0012078": { "name": [ "motor conduction block", "motor conduction block" ], "alt_id": [], "def": "Blockade of impulses at a focal site along the course of a motor axon.", "synonym": [], "xref": [ "UMLS:C4023056" ], "is_a": [ "HP:0000762", "HP:0040131" ], "is_obsolete": "", "replace_id": "" }, "HP:0012079": { "name": [ "abnormality of central motor conduction", "abnormality of central motor conduction" ], "alt_id": [], "def": "Any anomaly of the conduction of motor nerve impulses in the central nervous system.", "synonym": [], "xref": [ "UMLS:C4023055" ], "is_a": [ "HP:0011442" ], "is_obsolete": "", "replace_id": "" }, "HP:0012080": { "name": [ "cerebellar granular layer atrophy", "cerebellar granular layer atrophy" ], "alt_id": [], "def": "Atrophy of the cerebellum affecting primarily the granular cell layer.", "synonym": [], "xref": [ "UMLS:C4023054" ], "is_a": [ "HP:0001272" ], "is_obsolete": "", "replace_id": "" }, "HP:0012081": { "name": [ "enlarged cerebellum", "enlarge cerebellum" ], "alt_id": [], "def": "An abnormally increased size of the cerebellum compared to other brain structures.", "synonym": [], "xref": [ "UMLS:C3278024" ], "is_a": [ "HP:0001317" ], "is_obsolete": "", "replace_id": "" }, "HP:0012082": { "name": [ "cerebellar purkinje layer atrophy", "cerebellar purkinje layer atrophy" ], "alt_id": [], "def": "Atrophy of the cerebellum affecting primarily the Purkinje cell layer.", "synonym": [], "xref": [ "UMLS:C4023053" ], "is_a": [ "HP:0001272" ], "is_obsolete": "", "replace_id": "" }, "HP:0012083": { "name": [ "ubiquitin - positive cerebral inclusion bodies", "ubiquitin - positive cerebral inclusion body" ], "alt_id": [], "def": "Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain.", "synonym": [], "xref": [ "UMLS:C4023052" ], "is_a": [ "HP:0100314" ], "is_obsolete": "", "replace_id": "" }, "HP:0012084": { "name": [ "abnormality of skeletal muscle fiber size", "abnormality of skeletal muscle fiber size" ], "alt_id": [], "def": "Any abnormality of the size of the skeletal muscle cell.", "synonym": [ [ "abnormality of skeletal muscle fibre size", "abnormality of skeletal muscle fibre size" ] ], "xref": [ "UMLS:C4023051" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0012085": { "name": [ "pyuria", "pyuria" ], "alt_id": [], "def": "The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase.", "synonym": [ [ "high urine neutrophil count", "high urine neutrophil count" ], [ "leukocyturia", "leukocyturia" ] ], "xref": [ "MSH:D011776", "SNOMEDCT_US:275765006", "SNOMEDCT_US:4800001", "UMLS:C0034359" ], "is_a": [ "HP:0012614" ], "is_obsolete": "", "replace_id": "" }, "HP:0012086": { "name": [ "abnormal urinary color", "abnormal urinary color" ], "alt_id": [], "def": "An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color.", "synonym": [ [ "abnormal urinary color", "abnormal urinary color" ], [ "abnormal urinary colour", "abnormal urinary colour" ], [ "abnormal urine color", "abnormal urine color" ], [ "abnormal urine colour", "abnormal urine colour" ] ], "xref": [ "SNOMEDCT_US:102867009", "SNOMEDCT_US:167239007", "UMLS:C0522153" ], "is_a": [ "HP:0033072" ], "is_obsolete": "", "replace_id": "" }, "HP:0012087": { "name": [ "abnormal mitochondrial shape", "abnormal mitochondrial shape" ], "alt_id": [], "def": "An anomaly in the surface contour of mitochondria.", "synonym": [], "xref": [ "UMLS:C4023050" ], "is_a": [ "HP:0008322" ], "is_obsolete": "", "replace_id": "" }, "HP:0012088": { "name": [ "abnormal urinary odor", "abnormal urinary odor" ], "alt_id": [], "def": "A deviation from the normal odor of the urine.", "synonym": [ [ "abnormal urinary odor", "abnormal urinary odor" ], [ "abnormal urinary odour", "abnormal urinary odour" ], [ "abnormal urine smell", "abnormal urine smell" ] ], "xref": [ "SNOMEDCT_US:8769003", "UMLS:C0278045" ], "is_a": [ "HP:0033072" ], "is_obsolete": "", "replace_id": "" }, "HP:0012089": { "name": [ "arteritis", "arteritis" ], "alt_id": [], "def": "Arterial inflammation.", "synonym": [ [ "inflammation of artery", "inflammation of artery" ] ], "xref": [ "MSH:D001167", "SNOMEDCT_US:52089001", "UMLS:C0003860" ], "is_a": [ "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:0012090": { "name": [ "abnormal pancreas morphology", "abnormal pancreas morphology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of pancreas morphology", "abnormality of pancreas morphology" ], [ "abnormally shaped pancreas", "abnormally shape pancreas" ] ], "xref": [ "UMLS:C4023049" ], "is_a": [ "HP:0001732" ], "is_obsolete": "", "replace_id": "" }, "HP:0012091": { "name": [ "abnormality of pancreas physiology", "abnormality of pancreas physiology" ], "alt_id": [], "def": "An anomaly of the function of the pancreas.", "synonym": [], "xref": [ "UMLS:C4023048" ], "is_a": [ "HP:0001732" ], "is_obsolete": "", "replace_id": "" }, "HP:0012092": { "name": [ "abnormality of exocrine pancreas physiology", "abnormality of exocrine pancreas physiology" ], "alt_id": [], "def": "A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.", "synonym": [ [ "abnormal exocrine pancreatic function", "abnormal exocrine pancreatic function" ] ], "xref": [ "UMLS:C4021103" ], "is_a": [ "HP:0012091" ], "is_obsolete": "", "replace_id": "" }, "HP:0012093": { "name": [ "abnormality of endocrine pancreas physiology", "abnormality of endocrine pancreas physiology" ], "alt_id": [], "def": "A function abnormality of the endocrine pancreas.", "synonym": [], "xref": [ "UMLS:C4023047" ], "is_a": [ "HP:0000818", "HP:0012091" ], "is_obsolete": "", "replace_id": "" }, "HP:0012094": { "name": [ "abnormal pancreas size", "abnormal pancreas size" ], "alt_id": [], "def": "A deviation from the normal size of the pancreas.", "synonym": [ [ "abnormal pancreas size", "abnormal pancreas size" ] ], "xref": [ "UMLS:C4023046" ], "is_a": [ "HP:0012090" ], "is_obsolete": "", "replace_id": "" }, "HP:0012095": { "name": [ "multiple joint dislocation", "multiple joint dislocation" ], "alt_id": [], "def": "Dislocation of many joints.", "synonym": [ [ "multiple joint dislocations", "multiple joint dislocation" ] ], "xref": [ "SNOMEDCT_US:287096003", "SNOMEDCT_US:34277002", "UMLS:C0332792" ], "is_a": [ "HP:0001373" ], "is_obsolete": "", "replace_id": "" }, "HP:0012096": { "name": [ "intracranial epidermoid cyst", "intracranial epidermoid cyst" ], "alt_id": [], "def": "A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development.", "synonym": [], "xref": [ "UMLS:C4023045" ], "is_a": [ "HP:0010576" ], "is_obsolete": "", "replace_id": "" }, "HP:0012097": { "name": [ "intracranial dermoid cyst", "intracranial dermoid cyst" ], "alt_id": [], "def": "A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands.", "synonym": [], "xref": [ "UMLS:C4023044" ], "is_a": [ "HP:0010576" ], "is_obsolete": "", "replace_id": "" }, "HP:0012098": { "name": [ "edema of the dorsum of feet", "edema of the dorsum of foot" ], "alt_id": [], "def": "An abnormal accumulation of fluid beneath the skin on the back of the feet.", "synonym": [ [ "edema of dorsum of feet", "edema of dorsum of foot" ], [ "oedema of dorsum of feet", "oedema of dorsum of foot" ], [ "oedema of the dorsum of feet", "oedema of the dorsum of foot" ] ], "xref": [ "SNOMEDCT_US:445124008", "UMLS:C2919341" ], "is_a": [ "HP:0010741" ], "is_obsolete": "", "replace_id": "" }, "HP:0012099": { "name": [ "abnormality of circulating catecholamine level", "abnormality of circulate catecholamine level" ], "alt_id": [], "def": "An abnormal catecholamine concentration in the blood.", "synonym": [ [ "catecholamine levels abnormal", "catecholamine level abnormal" ] ], "xref": [ "UMLS:C4021102" ], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0012100": { "name": [ "abnormal circulating creatinine concentration", "abnormal circulate creatinine concentration" ], "alt_id": [], "def": "An abnormal concentration of creatinine in the blood.", "synonym": [ [ "abnormal blood creatinine level", "abnormal blood creatinine level" ], [ "abnormal circulating creatinine level", "abnormal circulate creatinine level" ], [ "creatinine levels abnormal", "creatinine level abnormal" ] ], "xref": [ "UMLS:C4021101" ], "is_a": [ "HP:0004364" ], "is_obsolete": "", "replace_id": "" }, "HP:0012101": { "name": [ "decreased serum creatinine", "decrease serum creatinine" ], "alt_id": [], "def": "An abnormally reduced amount of creatinine in the blood.", "synonym": [ [ "decreased serum creatinine", "decrease serum creatinine" ], [ "low blood creatinine level", "low blood creatinine level" ], [ "reduced creatinine levels", "reduce creatinine level" ] ], "xref": [ "SNOMEDCT_US:166715006", "UMLS:C0428282" ], "is_a": [ "HP:0012100" ], "is_obsolete": "", "replace_id": "" }, "HP:0012102": { "name": [ "abnormal mitochondrial number", "abnormal mitochondrial number" ], "alt_id": [], "def": "A deviation from the normal number of mitochondria per cell.", "synonym": [], "xref": [ "UMLS:C4023043" ], "is_a": [ "HP:0008322" ], "is_obsolete": "", "replace_id": "" }, "HP:0012103": { "name": [ "abnormality of the mitochondrion", "abnormality of the mitochondrion" ], "alt_id": [], "def": "An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.", "synonym": [ [ "mitochondrial abnormalities", "mitochondrial abnormality" ] ], "xref": [ "UMLS:C4020732", "UMLS:C4023042" ], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:0012104": { "name": [ "parietal cortical atrophy", "parietal cortical atrophy" ], "alt_id": [], "def": "Atrophy of the parietal cortex.", "synonym": [], "xref": [ "UMLS:C4023041" ], "is_a": [ "HP:0002120" ], "is_obsolete": "", "replace_id": "" }, "HP:0012105": { "name": [ "occipital cortical atrophy", "occipital cortical atrophy" ], "alt_id": [], "def": "Atrophy of the occipital cortex.", "synonym": [], "xref": [ "UMLS:C4023040" ], "is_a": [ "HP:0002120" ], "is_obsolete": "", "replace_id": "" }, "HP:0012106": { "name": [ "rhizomelic leg shortening", "rhizomelic leg shorten" ], "alt_id": [], "def": "Disproportionate shortening of the proximal segment of the leg (i.e. the femur).", "synonym": [], "xref": [ "UMLS:C4023039" ], "is_a": [ "HP:0008905" ], "is_obsolete": "", "replace_id": "" }, "HP:0012107": { "name": [ "increased fibular diameter", "increase fibular diameter" ], "alt_id": [ "HP:0200082" ], "def": "Increased width of the cross sectional diameter of the fibula.", "synonym": [ [ "thick fibula", "thick fibula" ], [ "thick fibulae", "thick fibula" ], [ "wide calf bone", "wide calf bone" ], [ "wide fibula", "wide fibula" ] ], "xref": [ "UMLS:C4021100" ], "is_a": [ "HP:0002991", "HP:0005622" ], "is_obsolete": "", "replace_id": "" }, "HP:0012108": { "name": [ "open angle glaucoma", "open angle glaucoma" ], "alt_id": [], "def": "A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,", "synonym": [ [ "primary open angle glaucoma", "primary open angle glaucoma" ] ], "xref": [ "MSH:C562750", "SNOMEDCT_US:77075001", "UMLS:C0339573" ], "is_a": [ "HP:0000501" ], "is_obsolete": "", "replace_id": "" }, "HP:0012109": { "name": [ "angle closure glaucoma", "angle closure glaucoma" ], "alt_id": [], "def": "A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact).", "synonym": [ [ "primary angle closure glaucoma", "primary angle closure glaucoma" ] ], "xref": [ "SNOMEDCT_US:392288006", "UMLS:C0017606" ], "is_a": [ "HP:0000501" ], "is_obsolete": "", "replace_id": "" }, "HP:0012110": { "name": [ "hypoplasia of the pons", "hypoplasia of the pons" ], "alt_id": [], "def": "Underdevelopment of the pons.", "synonym": [ [ "pontine hypoplasia", "pontine hypoplasia" ] ], "xref": [ "UMLS:C1848529" ], "is_a": [ "HP:0002977", "HP:0007361" ], "is_obsolete": "", "replace_id": "" }, "HP:0012111": { "name": [ "abnormality of circulating glucocorticoid level", "abnormality of circulate glucocorticoid level" ], "alt_id": [], "def": "An abnormality of the concentration of a glucocorticoid in the blood.", "synonym": [], "xref": [ "UMLS:C4023038" ], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0012112": { "name": [ "abnormal circulating corticosterone level", "abnormal circulate corticosterone level" ], "alt_id": [], "def": "An abnormality of the concentration of corticosterone in the blood.", "synonym": [ [ "abnormality of circulating corticosterone level", "abnormality of circulate corticosterone level" ] ], "xref": [ "UMLS:C4023037" ], "is_a": [ "HP:0012111" ], "is_obsolete": "", "replace_id": "" }, "HP:0012113": { "name": [ "abnormal circulating creatine concentration", "abnormal circulate creatine concentration" ], "alt_id": [], "def": "A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells.", "synonym": [ [ "abnormality of creatine metabolism", "abnormality of creatine metabolism" ], [ "creatine metabolism abnormal", "creatine metabolism abnormal" ] ], "xref": [ "UMLS:C4020731" ], "is_a": [ "HP:0032180" ], "is_obsolete": "", "replace_id": "" }, "HP:0012114": { "name": [ "endometrial carcinoma", "endometrial carcinoma" ], "alt_id": [], "def": "A carcinoma of the endometrium, the mucous lining of the uterus.", "synonym": [], "xref": [ "MSH:D016889", "SNOMEDCT_US:254878006", "UMLS:C0476089" ], "is_a": [ "HP:0010784", "HP:0030126" ], "is_obsolete": "", "replace_id": "" }, "HP:0012115": { "name": [ "hepatitis", "hepatitis" ], "alt_id": [], "def": "Inflammation of the liver.", "synonym": [ [ "liver inflammation", "liver inflammation" ] ], "xref": [ "MSH:D006505", "SNOMEDCT_US:128241005", "UMLS:C0019158" ], "is_a": [ "HP:0012649", "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0012116": { "name": [ "abnormal circulating albumin concentration", "abnormal circulate albumin concentration" ], "alt_id": [], "def": "Deviation from normal concentration of albumin in the blood.", "synonym": [ [ "abnormal albumin level", "abnormal albumin level" ] ], "xref": [ "UMLS:C4023036" ], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0012117": { "name": [ "hyperalbuminemia", "hyperalbuminemia" ], "alt_id": [], "def": "Elevation in the concentration of albumin in the blood.", "synonym": [ [ "high albumin", "high albumin" ], [ "high blood albumin levels", "high blood albumin level" ], [ "hyperalbuminaemia", "hyperalbuminaemia" ] ], "xref": [ "SNOMEDCT_US:119248009", "UMLS:C1142113" ], "is_a": [ "HP:0012116" ], "is_obsolete": "", "replace_id": "" }, "HP:0012118": { "name": [ "laryngeal carcinoma", "laryngeal carcinoma" ], "alt_id": [], "def": "A carcinoma of the larynx.", "synonym": [ [ "cancer of the larynx", "cancer of the larynx" ], [ "laryngeal cancer", "laryngeal cancer" ] ], "xref": [ "SNOMEDCT_US:276975007", "UMLS:C0595989" ], "is_a": [ "HP:0100605" ], "is_obsolete": "", "replace_id": "" }, "HP:0012119": { "name": [ "methemoglobinemia", "methemoglobinemia" ], "alt_id": [], "def": "Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues.", "synonym": [], "xref": [ "MSH:D008708", "SNOMEDCT_US:131171006", "SNOMEDCT_US:38959009", "UMLS:C0025637" ], "is_a": [ "HP:0011902" ], "is_obsolete": "", "replace_id": "" }, "HP:0012120": { "name": [ "methylmalonic aciduria", "methylmalonic aciduria" ], "alt_id": [], "def": "Increased concentration of methylmalonic acid in the urine.", "synonym": [ [ "high blood methylmalonic acid levels", "high blood methylmalonic acid level" ], [ "methymalonicaciduria", "methymalonicaciduria" ] ], "xref": [ "MSH:C537358", "UMLS:C1855119" ], "is_a": [ "HP:0003215" ], "is_obsolete": "", "replace_id": "" }, "HP:0012121": { "name": [ "panuveitis", "panuveitis" ], "alt_id": [], "def": "Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid.", "synonym": [], "xref": [ "MSH:D015864", "SNOMEDCT_US:75614007", "UMLS:C0030343" ], "is_a": [ "HP:0000554" ], "is_obsolete": "", "replace_id": "" }, "HP:0012122": { "name": [ "anterior uveitis", "anterior uveitis" ], "alt_id": [], "def": "Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.", "synonym": [], "xref": [ "SNOMEDCT_US:4927003", "UMLS:C0701807" ], "is_a": [ "HP:0000554" ], "is_obsolete": "", "replace_id": "" }, "HP:0012123": { "name": [ "posterior uveitis", "posterior uveitis" ], "alt_id": [], "def": "Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid.", "synonym": [ [ "choroiditis", "choroiditis" ] ], "xref": [ "MSH:D002833", "MSH:D015866", "SNOMEDCT_US:16553002", "SNOMEDCT_US:43363007", "UMLS:C0008526", "UMLS:C0042167" ], "is_a": [ "HP:0000554" ], "is_obsolete": "", "replace_id": "" }, "HP:0012124": { "name": [ "intermediate uveitis", "intermediate uveitis" ], "alt_id": [], "def": "Inflammation of the uveal tract in which the primary site of inflammation is the vitreous.", "synonym": [], "xref": [ "MSH:D015867", "SNOMEDCT_US:314429009", "UMLS:C0042166" ], "is_a": [ "HP:0000554" ], "is_obsolete": "", "replace_id": "" }, "HP:0012125": { "name": [ "prostate cancer", "prostate cancer" ], "alt_id": [], "def": "A cancer of the prostate.", "synonym": [ [ "prostatic cancer", "prostatic cancer" ] ], "xref": [ "MSH:D011471", "SNOMEDCT_US:399068003", "UMLS:C0376358" ], "is_a": [ "HP:0100787" ], "is_obsolete": "", "replace_id": "" }, "HP:0012126": { "name": [ "stomach cancer", "stomach cancer" ], "alt_id": [], "def": "A cancer arising in any part of the stomach.", "synonym": [ [ "gastric cancer", "gastric cancer" ] ], "xref": [ "SNOMEDCT_US:372143007", "UMLS:C0699791" ], "is_a": [ "HP:0006753" ], "is_obsolete": "", "replace_id": "" }, "HP:0012127": { "name": [ "uraciluria", "uraciluria" ], "alt_id": [], "def": "Increased concentration of uracil in the urine.", "synonym": [ [ "high urine uracil levels", "high urine uracil level" ] ], "xref": [ "UMLS:C4021833" ], "is_a": [ "HP:0033162" ], "is_obsolete": "", "replace_id": "" }, "HP:0012128": { "name": [ "basal ganglia necrosis", "basal ganglion necrosis" ], "alt_id": [], "def": "Death of cells in the basal ganglia.", "synonym": [], "xref": [ "UMLS:C4023035" ], "is_a": [ "HP:0002134" ], "is_obsolete": "", "replace_id": "" }, "HP:0012129": { "name": [ "abnormality of bone marrow stromal cells", "abnormality of bone marrow stromal cell" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023034" ], "is_a": [ "HP:0005561" ], "is_obsolete": "", "replace_id": "" }, "HP:0012130": { "name": [ "abnormal erythroid lineage cell morphology", "abnormal erythroid lineage cell morphology" ], "alt_id": [], "def": "An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.", "synonym": [ [ "abnormality of cells of the erythroid lineage", "abnormality of cell of the erythroid lineage" ] ], "xref": [ "UMLS:C4020862" ], "is_a": [ "HP:0020047" ], "is_obsolete": "", "replace_id": "" }, "HP:0012131": { "name": [ "abnormal number of erythroid precursors", "abnormal number of erythroid precursor" ], "alt_id": [], "def": "A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.", "synonym": [], "xref": [ "UMLS:C4023033" ], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0012132": { "name": [ "erythroid hyperplasia", "erythroid hyperplasia" ], "alt_id": [], "def": "Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.", "synonym": [ [ "bone marrow biopsy shows erythroid hyperplasia", "bone marrow biopsy show erythroid hyperplasia" ], [ "bone marrow smear shows erythroid hyperplasia", "bone marrow smear show erythroid hyperplasia" ] ], "xref": [ "UMLS:C0014800", "UMLS:C1838111", "UMLS:C3552917" ], "is_a": [ "HP:0012131" ], "is_obsolete": "", "replace_id": "" }, "HP:0012133": { "name": [ "erythroid hypoplasia", "erythroid hypoplasia" ], "alt_id": [], "def": "Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.", "synonym": [ [ "erythroblastopenia", "erythroblastopenia" ], [ "erythroid hypoplasia in the bone marrow", "erythroid hypoplasia in the bone marrow" ] ], "xref": [ "MSH:D000741", "SNOMEDCT_US:167923006", "SNOMEDCT_US:41614006", "UMLS:C0178416", "UMLS:C0542035" ], "is_a": [ "HP:0012131" ], "is_obsolete": "", "replace_id": "" }, "HP:0012134": { "name": [ "dysplastic erythropoesis", "dysplastic erythropoesis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023032" ], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0012135": { "name": [ "abnormal granulocytopoietic cell morphology", "abnormal granulocytopoietic cell morphology" ], "alt_id": [], "def": "An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.", "synonym": [ [ "abnormality of cells of the granulocytic lineage", "abnormality of cell of the granulocytic lineage" ] ], "xref": [ "UMLS:C4023031" ], "is_a": [ "HP:0005561" ], "is_obsolete": "", "replace_id": "" }, "HP:0012136": { "name": [ "dysplastic granulopoesis", "dysplastic granulopoesis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023030" ], "is_a": [ "HP:0012135" ], "is_obsolete": "", "replace_id": "" }, "HP:0012137": { "name": [ "abnormal number of granulocyte precursors", "abnormal number of granulocyte precursor" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023029" ], "is_a": [ "HP:0012135" ], "is_obsolete": "", "replace_id": "" }, "HP:0012138": { "name": [ "granulocytic hyperplasia", "granulocytic hyperplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023028" ], "is_a": [ "HP:0012137" ], "is_obsolete": "", "replace_id": "" }, "HP:0012139": { "name": [ "granulocytic hypoplasia", "granulocytic hypoplasia" ], "alt_id": [], "def": "Decreased number of granulocyte precursors in the bone marrow.", "synonym": [], "xref": [ "SNOMEDCT_US:416627004", "UMLS:C1534864" ], "is_a": [ "HP:0012137" ], "is_obsolete": "", "replace_id": "" }, "HP:0012140": { "name": [ "obsolete abnormality of cells of the lymphoid lineage", "obsolete abnormality of cell of the lymphoid lineage" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0004332" }, "HP:0012142": { "name": [ "pancreatic squamous cell carcinoma", "pancreatic squamous cell carcinoma" ], "alt_id": [], "def": "A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium.", "synonym": [ [ "squamous cell carcinoma of the pancreas", "squamous cell carcinoma of the pancreas" ] ], "xref": [ "UMLS:C2675993" ], "is_a": [ "HP:0002894" ], "is_obsolete": "", "replace_id": "" }, "HP:0012143": { "name": [ "abnormal megakaryocyte morphology", "abnormal megakaryocyte morphology" ], "alt_id": [], "def": "Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.", "synonym": [ [ "abnormality of cells of the megakaryocyte lineage", "abnormality of cell of the megakaryocyte lineage" ] ], "xref": [ "UMLS:C4023026" ], "is_a": [ "HP:0005561" ], "is_obsolete": "", "replace_id": "" }, "HP:0012144": { "name": [ "abnormal monocyte morphology", "abnormal monocyte morphology" ], "alt_id": [], "def": "Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.", "synonym": [], "xref": [ "UMLS:C4023025" ], "is_a": [ "HP:0010974" ], "is_obsolete": "", "replace_id": "" }, "HP:0012145": { "name": [ "abnormality of multiple cell lineages in the bone marrow", "abnormality of multiple cell lineage in the bone marrow" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4023024" ], "is_a": [ "HP:0005561" ], "is_obsolete": "", "replace_id": "" }, "HP:0012146": { "name": [ "abnormality of von willebrand factor", "abnormality of von willebrand factor" ], "alt_id": [], "def": "Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.", "synonym": [], "xref": [ "UMLS:C4023023" ], "is_a": [ "HP:0003256" ], "is_obsolete": "", "replace_id": "" }, "HP:0012147": { "name": [ "reduced quantity of von willebrand factor", "reduce quantity of von willebrand factor" ], "alt_id": [], "def": "Decreased quantity of von Willebrand factor.", "synonym": [ [ "decreased von willebrand factor", "decrease von willebrand factor" ] ], "xref": [ "UMLS:C1841816", "UMLS:C4023022" ], "is_a": [ "HP:0012146" ], "is_obsolete": "", "replace_id": "" }, "HP:0012148": { "name": [ "multiple lineage myelodysplasia", "multiple lineage myelodysplasia" ], "alt_id": [], "def": "Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic.", "synonym": [], "xref": [ "UMLS:C4023021" ], "is_a": [ "HP:0002863" ], "is_obsolete": "", "replace_id": "" }, "HP:0012149": { "name": [ "bilineage myelodysplasia", "bilineage myelodysplasia" ], "alt_id": [], "def": "Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic.", "synonym": [], "xref": [ "UMLS:C4023020" ], "is_a": [ "HP:0002863" ], "is_obsolete": "", "replace_id": "" }, "HP:0012150": { "name": [ "single lineage myelodysplasia", "single lineage myelodysplasia" ], "alt_id": [], "def": "Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).", "synonym": [], "xref": [ "UMLS:C4023019" ], "is_a": [ "HP:0002863" ], "is_obsolete": "", "replace_id": "" }, "HP:0012151": { "name": [ "hemothorax", "hemothorax" ], "alt_id": [], "def": "The presence of blood in the pleural space.", "synonym": [], "xref": [ "MSH:D006491", "SNOMEDCT_US:31892009", "UMLS:C0019123" ], "is_a": [ "HP:0002103" ], "is_obsolete": "", "replace_id": "" }, "HP:0012152": { "name": [ "foveoschisis", "foveoschisis" ], "alt_id": [], "def": "Splitting of the retinal layers in the macula.", "synonym": [ [ "retinoschisis involving the fovea", "retinoschisis involve the fovea" ] ], "xref": [ "UMLS:C2674407" ], "is_a": [ "HP:0000493", "HP:0030502" ], "is_obsolete": "", "replace_id": "" }, "HP:0012153": { "name": [ "hypotriglyceridemia", "hypotriglyceridemia" ], "alt_id": [], "def": "An decrease in the level of triglycerides in the blood.", "synonym": [ [ "decreased circulating tg levels", "decrease circulate tg level" ], [ "decreased plasma tg levels", "decrease plasma tg level" ], [ "low blood triglyceride levels", "low blood triglyceride level" ] ], "xref": [ "UMLS:C0542037" ], "is_a": [ "HP:0045014" ], "is_obsolete": "", "replace_id": "" }, "HP:0012154": { "name": [ "anhedonia", "anhedonia" ], "alt_id": [], "def": "Inability to experience pleasure activities usually found enjoyable.", "synonym": [], "xref": [ "MSH:D059445", "SNOMEDCT_US:247796005", "SNOMEDCT_US:28669007", "UMLS:C0178417" ], "is_a": [ "HP:0031466" ], "is_obsolete": "", "replace_id": "" }, "HP:0012155": { "name": [ "decreased corneal sensation", "decrease corneal sensation" ], "alt_id": [], "def": "Reduced ability of the cornea to respond to stimulation.", "synonym": [ [ "corneal hypaesthesia", "corneal hypaesthesia" ], [ "corneal hypesthesia", "corneal hypesthesia" ], [ "decreased corneal sensitivity", "decrease corneal sensitivity" ], [ "reduced corneal sensation", "reduce corneal sensation" ] ], "xref": [ "SNOMEDCT_US:373433005", "UMLS:C0271292", "UMLS:C0859996" ], "is_a": [ "HP:0000481" ], "is_obsolete": "", "replace_id": "" }, "HP:0012156": { "name": [ "hemophagocytosis", "hemophagocytosis" ], "alt_id": [], "def": "Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.", "synonym": [], "xref": [ "SNOMEDCT_US:61070002", "UMLS:C0876991" ], "is_a": [ "HP:0004311" ], "is_obsolete": "", "replace_id": "" }, "HP:0012157": { "name": [ "subcortical cerebral atrophy", "subcortical cerebral atrophy" ], "alt_id": [], "def": "Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.", "synonym": [], "xref": [ "UMLS:C4023018" ], "is_a": [ "HP:0007369" ], "is_obsolete": "", "replace_id": "" }, "HP:0012158": { "name": [ "carotid artery dissection", "carotid artery dissection" ], "alt_id": [], "def": "A separation (dissection) of the layers of the carotid artery wall.", "synonym": [], "xref": [ "UMLS:C0338585" ], "is_a": [ "HP:0005344" ], "is_obsolete": "", "replace_id": "" }, "HP:0012159": { "name": [ "internal carotid artery dissection", "internal carotid artery dissection" ], "alt_id": [], "def": "A separation (dissection) of the layers of the internal carotid artery wall.", "synonym": [], "xref": [ "MSH:D020215", "SNOMEDCT_US:705066004", "UMLS:C0751815" ], "is_a": [ "HP:0012158" ], "is_obsolete": "", "replace_id": "" }, "HP:0012160": { "name": [ "intracranial internal carotid artery dissection", "intracranial internal carotid artery dissection" ], "alt_id": [], "def": "A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall.", "synonym": [], "xref": [ "UMLS:C4023017" ], "is_a": [ "HP:0012159" ], "is_obsolete": "", "replace_id": "" }, "HP:0012161": { "name": [ "external carotid artery dissection", "external carotid artery dissection" ], "alt_id": [], "def": "A separation (dissection) of the layers of the external carotid artery wall.", "synonym": [], "xref": [ "UMLS:C4023016" ], "is_a": [ "HP:0012158" ], "is_obsolete": "", "replace_id": "" }, "HP:0012162": { "name": [ "common carotid artery dissection", "common carotid artery dissection" ], "alt_id": [], "def": "A separation (dissection) of the layers of the common carotid artery wall.", "synonym": [], "xref": [ "UMLS:C4023015" ], "is_a": [ "HP:0012158" ], "is_obsolete": "", "replace_id": "" }, "HP:0012163": { "name": [ "carotid artery dilatation", "carotid artery dilatation" ], "alt_id": [], "def": "A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.", "synonym": [ [ "carotid artery aneurysm", "carotid artery aneurysm" ] ], "xref": [ "SNOMEDCT_US:233988005", "UMLS:C0340639" ], "is_a": [ "HP:0005344" ], "is_obsolete": "", "replace_id": "" }, "HP:0012164": { "name": [ "asterixis", "asterixis" ], "alt_id": [], "def": "A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.", "synonym": [], "xref": [ "MSH:D020820", "SNOMEDCT_US:32838008", "UMLS:C0232766" ], "is_a": [ "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0012165": { "name": [ "oligodactyly", "oligodactyly" ], "alt_id": [], "def": "A developmental defect resulting in the presence of fewer than the normal number of digits.", "synonym": [], "xref": [ "UMLS:C3887496" ], "is_a": [ "HP:0011297" ], "is_obsolete": "", "replace_id": "" }, "HP:0012166": { "name": [ "skin - picking", "skin - picking" ], "alt_id": [], "def": "Repetitive and compulsive picking of skin which results in tissue damage.", "synonym": [ [ "compulsive skin picking", "compulsive skin picking" ], [ "dermatillomania", "dermatillomania" ] ], "xref": [ "ICD-10:F63.3 \"Trichotillomania\"", "UMLS:C1696701" ], "is_a": [ "HP:0100716" ], "is_obsolete": "", "replace_id": "" }, "HP:0012167": { "name": [ "hair - pulling", "hair - pulling" ], "alt_id": [], "def": "A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss.", "synonym": [ [ "trichotillomania", "trichotillomania" ] ], "xref": [ "MSH:D014256", "SNOMEDCT_US:17155009", "UMLS:C0040953" ], "is_a": [ "HP:0100716" ], "is_obsolete": "", "replace_id": "" }, "HP:0012168": { "name": [ "head - banging", "head - banging" ], "alt_id": [], "def": "Habitual striking of one's own head against a surface such as a mattress or wall of a crib.", "synonym": [ [ "head - banging", "head - banging" ] ], "xref": [ "MSH:D019956", "SNOMEDCT_US:43954004", "UMLS:C0018672" ], "is_a": [ "HP:0100716" ], "is_obsolete": "", "replace_id": "" }, "HP:0012169": { "name": [ "self - biting", "self - biting" ], "alt_id": [], "def": "Habitual biting of one's own body.", "synonym": [], "xref": [ "SNOMEDCT_US:248072009", "UMLS:C0424375" ], "is_a": [ "HP:0100716" ], "is_obsolete": "", "replace_id": "" }, "HP:0012170": { "name": [ "nail - biting", "nail - biting" ], "alt_id": [], "def": "Habitual biting of one's own fingernails.", "synonym": [ [ "nail - biting", "nail - biting" ], [ "onychophagia", "onychophagia" ], [ "onychophagy", "onychophagy" ] ], "xref": [ "ICD-10:F98.8", "MSH:D009259", "SNOMEDCT_US:37298006", "UMLS:C0027338" ], "is_a": [ "HP:0012169" ], "is_obsolete": "", "replace_id": "" }, "HP:0012171": { "name": [ "stereotypical hand wringing", "stereotypical hand wring" ], "alt_id": [], "def": "Habitual clasping and squeezing of the hands.", "synonym": [], "xref": [ "UMLS:C4023014" ], "is_a": [ "HP:0000733" ], "is_obsolete": "", "replace_id": "" }, "HP:0012172": { "name": [ "stereotypical body rocking", "stereotypical body rock" ], "alt_id": [], "def": "Habitual repetitive movement of the body.", "synonym": [], "xref": [ "UMLS:C4023013" ], "is_a": [ "HP:0000733" ], "is_obsolete": "", "replace_id": "" }, "HP:0012173": { "name": [ "orthostatic tachycardia", "orthostatic tachycardia" ], "alt_id": [], "def": "An increase in heart rate with standing of 30 beats per minute or more.", "synonym": [ [ "postural tachycardia", "postural tachycardia" ] ], "xref": [ "UMLS:C4021099" ], "is_a": [ "HP:0012332" ], "is_obsolete": "", "replace_id": "" }, "HP:0012174": { "name": [ "glioblastoma multiforme", "glioblastoma multiforme" ], "alt_id": [ "HP:0100843" ], "def": "A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation.", "synonym": [ [ "glioblastoma", "glioblastoma" ] ], "xref": [ "MSH:D005909", "SNOMEDCT_US:393563007", "SNOMEDCT_US:63634009", "UMLS:C1621958" ], "is_a": [ "HP:0009733" ], "is_obsolete": "", "replace_id": "" }, "HP:0012175": { "name": [ "resistance to activated protein c", "resistance to activate protein c" ], "alt_id": [], "def": "Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay.", "synonym": [ [ "activated protein c resistance", "activate protein c resistance" ] ], "xref": [ "MSH:D020016", "SNOMEDCT_US:421527008", "UMLS:C0600433" ], "is_a": [ "HP:0030780" ], "is_obsolete": "", "replace_id": "" }, "HP:0012176": { "name": [ "abnormal natural killer cell morphology", "abnormal natural killer cell morphology" ], "alt_id": [], "def": "An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.", "synonym": [ [ "abnormal nk cells", "abnormal nk cell" ], [ "abnormality of natural killer cells", "abnormality of natural killer cell" ] ], "xref": [ "UMLS:C4021098" ], "is_a": [ "HP:0004332" ], "is_obsolete": "", "replace_id": "" }, "HP:0012177": { "name": [ "abnormal natural killer cell physiology", "abnormal natural killer cell physiology" ], "alt_id": [], "def": "A functional anomaly of the natural killer cell.", "synonym": [], "xref": [ "UMLS:C4023012" ], "is_a": [ "HP:0031409" ], "is_obsolete": "", "replace_id": "" }, "HP:0012178": { "name": [ "reduced natural killer cell activity", "reduced natural killer cell activity" ], "alt_id": [], "def": "Reduced ability of the natural killer cell to function in the adaptive immune response.", "synonym": [], "xref": [ "UMLS:C1839969" ], "is_a": [ "HP:0012177" ], "is_obsolete": "", "replace_id": "" }, "HP:0012179": { "name": [ "craniofacial dystonia", "craniofacial dystonia" ], "alt_id": [], "def": "A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.", "synonym": [ [ "abnormal craniofacial muscle tone", "abnormal craniofacial muscle tone" ], [ "abnormal craniofacial posture", "abnormal craniofacial posture" ], [ "abnormal facial muscle tone", "abnormal facial muscle tone" ], [ "distorted craniofacial posture", "distort craniofacial posture" ], [ "facial dystonia", "facial dystonia" ] ], "xref": [ "UMLS:C1851915", "UMLS:C4023011", "UMLS:C4072883" ], "is_a": [ "HP:0004373" ], "is_obsolete": "", "replace_id": "" }, "HP:0012180": { "name": [ "cystic medial necrosis", "cystic medial necrosis" ], "alt_id": [ "HP:0200145" ], "def": "A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.", "synonym": [ [ "arterial cystic medial necrosis", "arterial cystic medial necrosis" ] ], "xref": [ "MSH:C536230", "SNOMEDCT_US:234021009", "SNOMEDCT_US:42182000", "SNOMEDCT_US:45894003", "UMLS:C0392775" ], "is_a": [ "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:0012181": { "name": [ "entrapment neuropathy", "entrapment neuropathy" ], "alt_id": [], "def": "Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss.", "synonym": [], "xref": [ "MSH:D009408", "SNOMEDCT_US:45781009", "UMLS:C1510429" ], "is_a": [ "HP:0009830" ], "is_obsolete": "", "replace_id": "" }, "HP:0012182": { "name": [ "oropharyngeal squamous cell carcinoma", "oropharyngeal squamous cell carcinoma" ], "alt_id": [], "def": "A squamous cell carcinoma that originates in the oropharnyx.", "synonym": [], "xref": [ "SNOMEDCT_US:423464009", "SNOMEDCT_US:707585008", "UMLS:C0280313" ], "is_a": [ "HP:0002860" ], "is_obsolete": "", "replace_id": "" }, "HP:0012183": { "name": [ "hyperplastic colonic polyposis", "hyperplastic colonic polyposis" ], "alt_id": [], "def": "Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.", "synonym": [], "xref": [ "UMLS:C4023010" ], "is_a": [ "HP:0030255" ], "is_obsolete": "", "replace_id": "" }, "HP:0012184": { "name": [ "increased hdl cholesterol concentration", "increase hdl cholesterol concentration" ], "alt_id": [], "def": "An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.", "synonym": [ [ "high blood hdl level", "high blood hdl level" ], [ "hyperalphalipoproteinemia", "hyperalphalipoproteinemia" ], [ "increased circulating high - density lipoprotein levels", "increase circulate high - density lipoprotein level" ] ], "xref": [ "MSH:C564591", "SNOMEDCT_US:238080004", "UMLS:C0342883" ], "is_a": [ "HP:0010980", "HP:0031888" ], "is_obsolete": "", "replace_id": "" }, "HP:0012185": { "name": [ "constrictive median neuropathy", "constrictive median neuropathy" ], "alt_id": [], "def": "Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand.", "synonym": [ [ "carpal tunnel syndrome", "carpal tunnel syndrome" ] ], "xref": [ "UMLS:C4023009" ], "is_a": [ "HP:0012181" ], "is_obsolete": "", "replace_id": "" }, "HP:0012186": { "name": [ "entrapment neuropathy of the ulnar nerve at elbow", "entrapment neuropathy of the ulnar nerve at elbow" ], "alt_id": [], "def": "An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand.", "synonym": [], "xref": [ "UMLS:C4023008" ], "is_a": [ "HP:0012181" ], "is_obsolete": "", "replace_id": "" }, "HP:0012187": { "name": [ "increased erythrocyte protoporphyrin concentration", "increase erythrocyte protoporphyrin concentration" ], "alt_id": [], "def": "An increased concentration of protoporphyrins in erythrocytes.", "synonym": [], "xref": [ "UMLS:C4023007" ], "is_a": [ "HP:0010472" ], "is_obsolete": "", "replace_id": "" }, "HP:0012188": { "name": [ "hyperemesis gravidarum", "hyperemesis gravidarum" ], "alt_id": [], "def": "Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight.", "synonym": [], "xref": [ "MSH:D006939", "SNOMEDCT_US:14094001", "UMLS:C0020450" ], "is_a": [ "HP:0002686" ], "is_obsolete": "", "replace_id": "" }, "HP:0012189": { "name": [ "hodgkin lymphoma", "hodgkin lymphoma" ], "alt_id": [], "def": "A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells.", "synonym": [ [ "hodgkin disease", "hodgkin disease" ], [ "hodgkin 's lymphoma", "hodgkin 's lymphoma" ] ], "xref": [ "MSH:D006689", "SNOMEDCT_US:118599009", "SNOMEDCT_US:118602004", "SNOMEDCT_US:118605002", "SNOMEDCT_US:118606001", "SNOMEDCT_US:14537002", "SNOMEDCT_US:46923007", "SNOMEDCT_US:70600005", "SNOMEDCT_US:74189002", "UMLS:C0019829" ], "is_a": [ "HP:0002665" ], "is_obsolete": "", "replace_id": "" }, "HP:0012190": { "name": [ "t - cell lymphoma", "t - cell lymphoma" ], "alt_id": [], "def": "A type of lymphoma that originates in T-cells.", "synonym": [ [ "t cell lymphoma", "t cell lymphoma" ] ], "xref": [ "MSH:D016399", "SNOMEDCT_US:109978004", "SNOMEDCT_US:3172003", "UMLS:C0079772" ], "is_a": [ "HP:0012539" ], "is_obsolete": "", "replace_id": "" }, "HP:0012191": { "name": [ "b - cell lymphoma", "b - cell lymphoma" ], "alt_id": [], "def": "A type of lymphoma that originates in B-cells.", "synonym": [ [ "b cell lymphoma", "b cell lymphoma" ] ], "xref": [ "MSH:D016393", "SNOMEDCT_US:109979007", "SNOMEDCT_US:1929004", "SNOMEDCT_US:413616009", "UMLS:C0079731" ], "is_a": [ "HP:0012539" ], "is_obsolete": "", "replace_id": "" }, "HP:0012192": { "name": [ "cutaneous t - cell lymphoma", "cutaneous t - cell lymphoma" ], "alt_id": [], "def": "A type of T-cell lymphoma that exhibits malignant infiltration of the skin.", "synonym": [], "xref": [ "MSH:D016410", "SNOMEDCT_US:28054005", "SNOMEDCT_US:400122007", "UMLS:C0079773" ], "is_a": [ "HP:0012190" ], "is_obsolete": "", "replace_id": "" }, "HP:0012193": { "name": [ "anaplastic large - cell lymphoma", "anaplastic large - cell lymphoma" ], "alt_id": [], "def": "A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei.", "synonym": [], "xref": [ "MSH:D017728", "SNOMEDCT_US:277637000", "SNOMEDCT_US:53237008", "UMLS:C0206180" ], "is_a": [ "HP:0012190" ], "is_obsolete": "", "replace_id": "" }, "HP:0012194": { "name": [ "episodic hemiplegia", "episodic hemiplegia" ], "alt_id": [], "def": "Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.", "synonym": [], "xref": [ "UMLS:C1863061" ], "is_a": [ "HP:0002301" ], "is_obsolete": "", "replace_id": "" }, "HP:0012195": { "name": [ "irregular respiration", "irregular respiration" ], "alt_id": [], "def": "Uneven rhythm of breathing.", "synonym": [ [ "irregular respiratory rhythm", "irregular respiratory rhythm" ] ], "xref": [ "SNOMEDCT_US:248585001", "UMLS:C0425492" ], "is_a": [ "HP:0002793" ], "is_obsolete": "", "replace_id": "" }, "HP:0012196": { "name": [ "cheyne - stokes respiration", "cheyne - stokes respiration" ], "alt_id": [], "def": "An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes.", "synonym": [ [ "cheyne - stokes breathing", "cheyne - stokes breathe" ], [ "periodic respiration", "periodic respiration" ] ], "xref": [ "MSH:D002639", "SNOMEDCT_US:271824009", "SNOMEDCT_US:309155007", "UMLS:C0008039", "UMLS:C1313952" ], "is_a": [ "HP:0002793" ], "is_obsolete": "", "replace_id": "" }, "HP:0012197": { "name": [ "insulinoma", "insulinoma" ], "alt_id": [], "def": "A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.", "synonym": [ [ "pancreatic insulinoma", "pancreatic insulinoma" ] ], "xref": [ "MSH:D007340", "SNOMEDCT_US:25324008", "SNOMEDCT_US:302822000", "UMLS:C0021670" ], "is_a": [ "HP:0008261" ], "is_obsolete": "", "replace_id": "" }, "HP:0012198": { "name": [ "juvenile colonic polyposis", "juvenile colonic polyposis" ], "alt_id": [], "def": "The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.", "synonym": [], "xref": [ "UMLS:C4023006" ], "is_a": [ "HP:0004390", "HP:0030255" ], "is_obsolete": "", "replace_id": "" }, "HP:0012199": { "name": [ "cluster headache", "cluster headache" ], "alt_id": [], "def": "A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs.", "synonym": [], "xref": [ "ICD-10:G44.0 \"Cluster headache syndrome\"", "MSH:D003027", "SNOMEDCT_US:193031009", "SNOMEDCT_US:193947008", "SNOMEDCT_US:230473009", "UMLS:C0009088" ], "is_a": [ "HP:0002315" ], "is_obsolete": "", "replace_id": "" }, "HP:0012200": { "name": [ "abnormality of prothrombin", "abnormality of prothrombin" ], "alt_id": [], "def": "An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.", "synonym": [], "xref": [ "UMLS:C4023005" ], "is_a": [ "HP:0003256" ], "is_obsolete": "", "replace_id": "" }, "HP:0012201": { "name": [ "obsolete reduced prothrombin activity", "obsolete reduce prothrombin activity" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0008151" }, "HP:0012202": { "name": [ "increased serum bile acid concentration", "increase serum bile acid concentration" ], "alt_id": [], "def": "An increase in the concentration of bile acid in the blood.", "synonym": [], "xref": [ "UMLS:C4023004" ], "is_a": [ "HP:0030984" ], "is_obsolete": "", "replace_id": "" }, "HP:0012203": { "name": [ "onychomycosis", "onychomycosis" ], "alt_id": [], "def": "A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.", "synonym": [], "xref": [ "MSH:D014009", "SNOMEDCT_US:414941008", "UMLS:C0040261" ], "is_a": [ "HP:0002841" ], "is_obsolete": "", "replace_id": "" }, "HP:0012204": { "name": [ "recurrent vulvovaginal candidiasis", "recurrent vulvovaginal candidiasis" ], "alt_id": [], "def": "Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.", "synonym": [], "xref": [ "UMLS:C4023003" ], "is_a": [ "HP:0002728" ], "is_obsolete": "", "replace_id": "" }, "HP:0012205": { "name": [ "globozoospermia", "globozoospermia" ], "alt_id": [], "def": "Any structural anomaly of the acrosome resulting in a round sperm head.", "synonym": [], "xref": [ "MSH:D000072660", "SNOMEDCT_US:236818008", "UMLS:C0403825" ], "is_a": [ "HP:0012865" ], "is_obsolete": "", "replace_id": "" }, "HP:0012206": { "name": [ "abnormal sperm motility", "abnormal sperm motility" ], "alt_id": [], "def": "An anomaly of the mobility of ejaculated sperm.", "synonym": [ [ "abnormal sperm motility", "abnormal sperm motility" ] ], "xref": [ "UMLS:C0855512" ], "is_a": [ "HP:0000025" ], "is_obsolete": "", "replace_id": "" }, "HP:0012207": { "name": [ "reduced sperm motility", "reduce sperm motility" ], "alt_id": [], "def": "An abnormal reduction in the mobility of ejaculated sperm.", "synonym": [ [ "asthenospermia", "asthenospermia" ], [ "reduced sperm motility", "reduce sperm motility" ] ], "xref": [ "UMLS:C4023002" ], "is_a": [ "HP:0012206" ], "is_obsolete": "", "replace_id": "" }, "HP:0012208": { "name": [ "immotile sperm", "immotile sperm" ], "alt_id": [], "def": "A lack of mobility of ejaculated sperm.", "synonym": [ [ "nonmotile sperm", "nonmotile sperm" ] ], "xref": [ "UMLS:C4023001" ], "is_a": [ "HP:0012206" ], "is_obsolete": "", "replace_id": "" }, "HP:0012209": { "name": [ "juvenile myelomonocytic leukemia", "juvenile myelomonocytic leukemia" ], "alt_id": [], "def": "Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor.", "synonym": [ [ "juvenile myelomonocytic leukaemia", "juvenile myelomonocytic leukaemia" ] ], "xref": [ "MSH:D054429", "SNOMEDCT_US:128832006", "SNOMEDCT_US:277587001", "SNOMEDCT_US:445227008", "UMLS:C0349639" ], "is_a": [ "HP:0012324" ], "is_obsolete": "", "replace_id": "" }, "HP:0012210": { "name": [ "abnormal renal morphology", "abnormal renal morphology" ], "alt_id": [ "HP:0000792", "HP:0004726", "HP:0004735", "HP:0008712" ], "def": "Any structural anomaly of the kidney.", "synonym": [ [ "abnormal kidney morphology", "abnormal kidney morphology" ], [ "abnormally shaped kidney", "abnormally shape kidney" ], [ "kidney malformation", "kidney malformation" ], [ "kidney structure issue", "kidney structure issue" ], [ "renal malformation", "renal malformation" ], [ "structural anomalies of the renal tract", "structural anomaly of the renal tract" ], [ "structural kidney abnormalities", "structural kidney abnormality" ], [ "structural renal anomalies", "structural renal anomaly" ] ], "xref": [ "Fyler:4512", "SNOMEDCT_US:44513007", "UMLS:C0266292" ], "is_a": [ "HP:0000077" ], "is_obsolete": "", "replace_id": "" }, "HP:0012211": { "name": [ "abnormal renal physiology", "abnormal renal physiology" ], "alt_id": [ "HP:0000082", "HP:0000087", "HP:0005566", "HP:0008646" ], "def": "An abnormal functionality of the kidney.", "synonym": [ [ "abnormal kidney function", "abnormal kidney function" ], [ "abnormal renal function", "abnormal renal function" ], [ "abnormality of renal physiology", "abnormality of renal physiology" ], [ "kidney function issue", "kidney function issue" ], [ "renal functional abnormality", "renal functional abnormality" ] ], "xref": [ "SNOMEDCT_US:39539005", "UMLS:C0151746" ], "is_a": [ "HP:0000077", "HP:0011277" ], "is_obsolete": "", "replace_id": "" }, "HP:0012212": { "name": [ "abnormal glomerular filtration rate", "abnormal glomerular filtration rate" ], "alt_id": [], "def": "An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.", "synonym": [ [ "abnormal gfr", "abnormal gfr" ] ], "xref": [ "UMLS:C0854050" ], "is_a": [ "HP:0012211" ], "is_obsolete": "", "replace_id": "" }, "HP:0012213": { "name": [ "decreased glomerular filtration rate", "decrease glomerular filtration rate" ], "alt_id": [ "HP:0000120" ], "def": "An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.", "synonym": [ [ "decreased gfr", "decrease gfr" ], [ "impaired renal creatinine clearance", "impaired renal creatinine clearance" ], [ "reduced creatinine clearance", "reduce creatinine clearance" ] ], "xref": [ "UMLS:C0853068" ], "is_a": [ "HP:0012212" ], "is_obsolete": "", "replace_id": "" }, "HP:0012214": { "name": [ "increased glomerular filtration rate", "increase glomerular filtration rate" ], "alt_id": [], "def": "An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.", "synonym": [ [ "increased gfr", "increase gfr" ] ], "xref": [ "UMLS:C0856948" ], "is_a": [ "HP:0012212" ], "is_obsolete": "", "replace_id": "" }, "HP:0012215": { "name": [ "testicular microlithiasis", "testicular microlithiasis" ], "alt_id": [], "def": "The deposition of calcium phosphate microliths within the seminiferous tubules.", "synonym": [], "xref": [ "MSH:C566478", "SNOMEDCT_US:117261000119108", "UMLS:C1864873" ], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0012216": { "name": [ "entrapment neuropathy of suprascapular nerve", "entrapment neuropathy of suprascapular nerve" ], "alt_id": [], "def": "An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region.", "synonym": [ [ "suprascapular nerve entrapment", "suprascapular nerve entrapment" ] ], "xref": [ "SNOMEDCT_US:230635000", "UMLS:C0393890" ], "is_a": [ "HP:0012181" ], "is_obsolete": "", "replace_id": "" }, "HP:0012217": { "name": [ "increased urinary porphobilinogen", "increase urinary porphobilinogen" ], "alt_id": [], "def": "Increased concentration of porphobilinogen in the urine.", "synonym": [], "xref": [ "UMLS:C4023000" ], "is_a": [ "HP:0033455" ], "is_obsolete": "", "replace_id": "" }, "HP:0012218": { "name": [ "alveolar soft part sarcoma", "alveolar soft part sarcoma" ], "alt_id": [], "def": "A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue.", "synonym": [], "xref": [ "MSH:D018234", "SNOMEDCT_US:404056007", "SNOMEDCT_US:88195001", "UMLS:C0206657" ], "is_a": [ "HP:0030448" ], "is_obsolete": "", "replace_id": "" }, "HP:0012219": { "name": [ "erythema nodosum", "erythema nodosum" ], "alt_id": [], "def": "An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.", "synonym": [], "xref": [ "MSH:D004893", "SNOMEDCT_US:32861005", "UMLS:C0014743" ], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0012220": { "name": [ "non - caseating epithelioid cell granulomatosis", "non - caseate epithelioid cell granulomatosis" ], "alt_id": [], "def": "The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese).", "synonym": [], "xref": [ "UMLS:C4022999" ], "is_a": [ "HP:0002955" ], "is_obsolete": "", "replace_id": "" }, "HP:0012221": { "name": [ "pretibial blistering", "pretibial blistering" ], "alt_id": [], "def": "A type of blistering that affects the skin of the tibial region.", "synonym": [ [ "pretibial epidermolysis bullosa", "pretibial epidermolysis bullosa" ] ], "xref": [ "MSH:C535494", "SNOMEDCT_US:67653003", "UMLS:C0432321" ], "is_a": [ "HP:0033800" ], "is_obsolete": "", "replace_id": "" }, "HP:0012222": { "name": [ "arachnoid hemangiomatosis", "arachnoid hemangiomatosis" ], "alt_id": [], "def": "The presence of multiple hemangiomas in the arachnoid.", "synonym": [], "xref": [ "UMLS:C4022998" ], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0012223": { "name": [ "splenic rupture", "splenic rupture" ], "alt_id": [], "def": "A breach of the capsule of the spleen.", "synonym": [ [ "ruptured spleen", "rupture spleen" ], [ "splenic rupture", "splenic rupture" ] ], "xref": [ "MSH:D013161", "SNOMEDCT_US:234506007", "UMLS:C0038000" ], "is_a": [ "HP:0025408" ], "is_obsolete": "", "replace_id": "" }, "HP:0012224": { "name": [ "circulating immune complexes", "circulate immune complex" ], "alt_id": [], "def": "Persistence of immune complexes in the blood circulation.", "synonym": [], "xref": [ "UMLS:C3887628" ], "is_a": [ "HP:0005368" ], "is_obsolete": "", "replace_id": "" }, "HP:0012225": { "name": [ "oligodontia of primary teeth", "oligodontia of primary teeth" ], "alt_id": [], "def": "Reduced number of primary teeth.", "synonym": [ [ "decreased number of baby teeth", "decreased number of baby teeth" ], [ "decreased number of deciduous teeth", "decreased number of deciduous teeth" ], [ "decreased number of milk teeth", "decreased number of milk teeth" ], [ "decreased number of primary teeth", "decreased number of primary teeth" ], [ "failure of development of some deciduous teeth", "failure of development of some deciduous teeth" ], [ "failure of development of some primary teeth", "failure of development of some primary teeth" ], [ "fewer baby teeth than normal", "few baby teeth than normal" ], [ "fewer deciduous teeth than normal", "few deciduous teeth than normal" ], [ "fewer primary teeth than normal", "few primary teeth than normal" ], [ "missing some baby teeth", "miss some baby teeth" ], [ "missing some milk teeth", "miss some milk teeth" ], [ "missing some primary teeth", "miss some primary teeth" ], [ "partial anodontia of deciduous teeth", "partial anodontia of deciduous teeth" ], [ "partial anodontia of primary teeth", "partial anodontia of primary teeth" ] ], "xref": [ "UMLS:C4022997", "UMLS:C4280316" ], "is_a": [ "HP:0000677" ], "is_obsolete": "", "replace_id": "" }, "HP:0012226": { "name": [ "ovarian teratoma", "ovarian teratoma" ], "alt_id": [], "def": "The presence of a teratoma in the ovary.", "synonym": [], "xref": [ "NCIT:C3403", "SNOMEDCT_US:716077006", "UMLS:C0280131" ], "is_a": [ "HP:0009792", "HP:0100615" ], "is_obsolete": "", "replace_id": "" }, "HP:0012227": { "name": [ "urethral stricture", "urethral stricture" ], "alt_id": [], "def": "Narrowing of the urethra associated with inflammation or scar tissue.", "synonym": [], "xref": [ "MSH:D014525", "SNOMEDCT_US:236647003", "SNOMEDCT_US:76618002", "UMLS:C0041974" ], "is_a": [ "HP:0008661" ], "is_obsolete": "", "replace_id": "" }, "HP:0012228": { "name": [ "tension - type headache", "tension - type headache" ], "alt_id": [], "def": "A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs.", "synonym": [ [ "tension - type headache", "tension - type headache" ] ], "xref": [ "ICD-10:G44.2 \"Tension-type headache\"", "MSH:D018781", "SNOMEDCT_US:398057008", "SNOMEDCT_US:66551002", "UMLS:C0033893" ], "is_a": [ "HP:0002315" ], "is_obsolete": "", "replace_id": "" }, "HP:0012229": { "name": [ "csf pleocytosis", "csf pleocytosis" ], "alt_id": [], "def": "An increased white blood cell count in the cerebrospinal fluid.", "synonym": [ [ "cerebrospinal fluid pleocytosis", "cerebrospinal fluid pleocytosis" ], [ "increased leukocyte count in csf", "increase leukocyte count in csf" ] ], "xref": [ "MSH:D007964", "SNOMEDCT_US:91454002", "UMLS:C0151857" ], "is_a": [ "HP:0002921" ], "is_obsolete": "", "replace_id": "" }, "HP:0012230": { "name": [ "rhegmatogenous retinal detachment", "rhegmatogenous retinal detachment" ], "alt_id": [], "def": "A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.", "synonym": [], "xref": [ "SNOMEDCT_US:19620000", "UMLS:C0271055" ], "is_a": [ "HP:0000541" ], "is_obsolete": "", "replace_id": "" }, "HP:0012231": { "name": [ "exudative retinal detachment", "exudative retinal detachment" ], "alt_id": [], "def": "A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium.", "synonym": [ [ "serous retinal detachment", "serous retinal detachment" ] ], "xref": [ "SNOMEDCT_US:38599001", "UMLS:C0154822" ], "is_a": [ "HP:0000541" ], "is_obsolete": "", "replace_id": "" }, "HP:0012232": { "name": [ "shortened qt interval", "shorten qt interval" ], "alt_id": [], "def": "Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).", "synonym": [], "xref": [ "SNOMEDCT_US:77867006", "UMLS:C0151879" ], "is_a": [ "HP:0031547" ], "is_obsolete": "", "replace_id": "" }, "HP:0012233": { "name": [ "intramuscular hematoma", "intramuscular hematoma" ], "alt_id": [], "def": "Blood clot formed within muscle tissue following leakage of blood into the tissue.", "synonym": [ [ "im hematoma", "im hematoma" ], [ "intramuscular haematoma", "intramuscular haematoma" ], [ "intramuscular haemorrhage", "intramuscular haemorrhage" ], [ "intramuscular hematomas", "intramuscular hematoma" ], [ "intramuscular hemorrhage", "intramuscular hemorrhage" ] ], "xref": [ "SNOMEDCT_US:262969000", "UMLS:C0240412" ], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0012234": { "name": [ "agranulocytosis", "agranulocytosis" ], "alt_id": [], "def": "Marked decrease in the number of granulocytes.", "synonym": [], "xref": [ "UMLS:C0702094" ], "is_a": [ "HP:0001913" ], "is_obsolete": "", "replace_id": "" }, "HP:0012235": { "name": [ "drug - induced agranulocytosis", "drug - induced agranulocytosis" ], "alt_id": [], "def": "A type of agranulocytosis related to ingestion of a specific medication.", "synonym": [], "xref": [ "SNOMEDCT_US:47318007", "UMLS:C0272178" ], "is_a": [ "HP:0012234" ], "is_obsolete": "", "replace_id": "" }, "HP:0012236": { "name": [ "elevated sweat chloride", "elevate sweat chloride" ], "alt_id": [], "def": "An increased concentration of chloride in the sweat.", "synonym": [ [ "elevated sweat chloride", "elevate sweat chloride" ], [ "elevated sweat cl", "elevate sweat cl" ], [ "elevated sweat cl -", "elevate sweat cl -" ] ], "xref": [ "UMLS:C1856646" ], "is_a": [ "HP:0040127" ], "is_obsolete": "", "replace_id": "" }, "HP:0012237": { "name": [ "urocanic aciduria", "urocanic aciduria" ], "alt_id": [], "def": "An increased concentration of urocanic acid in the urine.", "synonym": [ [ "high urine urocanic acid levels", "high urine urocanic acid level" ] ], "xref": [ "MSH:C536479", "SNOMEDCT_US:60952007", "UMLS:C0268514" ], "is_a": [ "HP:0040156" ], "is_obsolete": "", "replace_id": "" }, "HP:0012238": { "name": [ "increased circulating chylomicron concentration", "increase circulate chylomicron concentration" ], "alt_id": [], "def": "Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.", "synonym": [ [ "hyperchylomicronemia", "hyperchylomicronemia" ], [ "increased chylomicrons", "increase chylomicron" ], [ "increased circulating chylomicron levels", "increase circulate chylomicron level" ] ], "xref": [ "UMLS:C1535978" ], "is_a": [ "HP:0010980", "HP:0031887" ], "is_obsolete": "", "replace_id": "" }, "HP:0012239": { "name": [ "atransferrinemia", "atransferrinemia" ], "alt_id": [], "def": "Absence of transferrin, a protein that transports iron, in the blood.", "synonym": [], "xref": [ "MSH:C538259", "SNOMEDCT_US:111571009", "UMLS:C0521802" ], "is_a": [ "HP:0032385" ], "is_obsolete": "", "replace_id": "" }, "HP:0012240": { "name": [ "increased intramyocellular lipid droplets", "increase intramyocellular lipid droplet" ], "alt_id": [], "def": "An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images.", "synonym": [ [ "increased muscle lipid droplets", "increase muscle lipid droplet" ] ], "xref": [ "UMLS:C4020730" ], "is_a": [ "HP:0009058" ], "is_obsolete": "", "replace_id": "" }, "HP:0012241": { "name": [ "levator palpebrae superioris atrophy", "levator palpebrae superioris atrophy" ], "alt_id": [], "def": "Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.", "synonym": [], "xref": [ "UMLS:C1851107" ], "is_a": [ "HP:3000072" ], "is_obsolete": "", "replace_id": "" }, "HP:0012242": { "name": [ "superior rectus atrophy", "superior rectus atrophy" ], "alt_id": [], "def": "Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe.", "synonym": [ [ "rectus superior atrophy", "rectus superior atrophy" ] ], "xref": [ "UMLS:C1851108" ], "is_a": [ "HP:0008049" ], "is_obsolete": "", "replace_id": "" }, "HP:0012243": { "name": [ "abnormal reproductive system morphology", "abnormal reproductive system morphology" ], "alt_id": [], "def": "A structural or developmental anomaly of any of the tissues involved in the genital system.", "synonym": [ [ "abnormal genital system morphology", "abnormal genital system morphology" ] ], "xref": [ "UMLS:C4021096" ], "is_a": [ "HP:0000078" ], "is_obsolete": "", "replace_id": "" }, "HP:0012244": { "name": [ "abnormal sex determination", "abnormal sex determination" ], "alt_id": [], "def": "Anomaly of primary or secondary sexual development or characteristics.", "synonym": [], "xref": [ "UMLS:C4022996" ], "is_a": [ "HP:0012243" ], "is_obsolete": "", "replace_id": "" }, "HP:0012245": { "name": [ "sex reversal", "sex reversal" ], "alt_id": [], "def": "Development of the reproductive system is inconsistent with the chromosomal sex.", "synonym": [], "xref": [ "UMLS:C4022995" ], "is_a": [ "HP:0012244" ], "is_obsolete": "", "replace_id": "" }, "HP:0012246": { "name": [ "oculomotor nerve palsy", "oculomotor nerve palsy" ], "alt_id": [], "def": "Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).", "synonym": [ [ "oculomotor neuropathy", "oculomotor neuropathy" ] ], "xref": [ "MSH:D015840", "SNOMEDCT_US:388980004", "UMLS:C0028866" ], "is_a": [ "HP:0000597", "HP:0006824" ], "is_obsolete": "", "replace_id": "" }, "HP:0012247": { "name": [ "specific anosmia", "specific anosmia" ], "alt_id": [], "def": "Anosmia for one particular odor.", "synonym": [], "xref": [ "UMLS:C4022994" ], "is_a": [ "HP:0000458" ], "is_obsolete": "", "replace_id": "" }, "HP:0012248": { "name": [ "prolonged pr interval", "prolonged pr interval" ], "alt_id": [], "def": "Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).", "synonym": [ [ "electrocardiographic long pr interval", "electrocardiographic long pr interval" ], [ "lengthened pr interval on ekg", "lengthen pr interval on ekg" ] ], "xref": [ "SNOMEDCT_US:164947007", "UMLS:C0600125" ], "is_a": [ "HP:0031593" ], "is_obsolete": "", "replace_id": "" }, "HP:0012249": { "name": [ "abnormal st segment", "abnormal st segment" ], "alt_id": [], "def": "An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.", "synonym": [], "xref": [ "UMLS:C4022993" ], "is_a": [ "HP:0003115" ], "is_obsolete": "", "replace_id": "" }, "HP:0012250": { "name": [ "st segment depression", "st segment depression" ], "alt_id": [], "def": "An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line.", "synonym": [], "xref": [ "SNOMEDCT_US:26141007", "SNOMEDCT_US:429622005", "UMLS:C0520887" ], "is_a": [ "HP:0012249" ], "is_obsolete": "", "replace_id": "" }, "HP:0012251": { "name": [ "st segment elevation", "st segment elevation" ], "alt_id": [], "def": "An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.", "synonym": [], "xref": [ "SNOMEDCT_US:164931005", "SNOMEDCT_US:76388001", "UMLS:C0520886" ], "is_a": [ "HP:0012249" ], "is_obsolete": "", "replace_id": "" }, "HP:0012252": { "name": [ "abnormal respiratory system morphology", "abnormal respiratory system morphology" ], "alt_id": [], "def": "A structural anomaly of the respiratory system.", "synonym": [], "xref": [ "Fyler:4235", "UMLS:C4022992" ], "is_a": [ "HP:0002086" ], "is_obsolete": "", "replace_id": "" }, "HP:0012253": { "name": [ "abnormal respiratory epithelium morphology", "abnormal respiratory epithelium morphology" ], "alt_id": [], "def": "Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.", "synonym": [], "xref": [ "UMLS:C4022991" ], "is_a": [ "HP:0012252" ], "is_obsolete": "", "replace_id": "" }, "HP:0012254": { "name": [ "ewing sarcoma", "ewing sarcoma" ], "alt_id": [], "def": "A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones.", "synonym": [ [ "ewing sarcoma", "ewing sarcoma" ], [ "ewing 's sarcoma", "ewing 's sarcoma" ] ], "xref": [ "MSH:D012512", "SNOMEDCT_US:76909002", "UMLS:C0553580" ], "is_a": [ "HP:0100242" ], "is_obsolete": "", "replace_id": "" }, "HP:0012255": { "name": [ "dynein arm defect of respiratory motile cilia", "dynein arm defect of respiratory motile cilium" ], "alt_id": [], "def": "An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.", "synonym": [], "xref": [ "UMLS:C4022990" ], "is_a": [ "HP:0005938" ], "is_obsolete": "", "replace_id": "" }, "HP:0012256": { "name": [ "absent outer dynein arms", "absent outer dynein arm" ], "alt_id": [], "def": "Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.", "synonym": [], "xref": [ "UMLS:C4022989" ], "is_a": [ "HP:0200106" ], "is_obsolete": "", "replace_id": "" }, "HP:0012257": { "name": [ "absent inner dynein arms", "absent inner dynein arm" ], "alt_id": [], "def": "Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.", "synonym": [], "xref": [ "UMLS:C4022988" ], "is_a": [ "HP:0200106" ], "is_obsolete": "", "replace_id": "" }, "HP:0012258": { "name": [ "abnormal axonemal organization of respiratory motile cilia", "abnormal axonemal organization of respiratory motile cilium" ], "alt_id": [], "def": "Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms.", "synonym": [ [ "abnormal axonemal organisation of respiratory motile cilia", "abnormal axonemal organisation of respiratory motile cilium" ] ], "xref": [ "UMLS:C4022987" ], "is_a": [ "HP:0005938" ], "is_obsolete": "", "replace_id": "" }, "HP:0012259": { "name": [ "absent inner and outer dynein arms", "absent inner and outer dynein arm" ], "alt_id": [], "def": "Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.", "synonym": [], "xref": [ "UMLS:C4022986" ], "is_a": [ "HP:0012256", "HP:0012257" ], "is_obsolete": "", "replace_id": "" }, "HP:0012260": { "name": [ "abnormal central microtubular pair morphology of respiratory motile cilia", "abnormal central microtubular pair morphology of respiratory motile cilium" ], "alt_id": [], "def": "A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.", "synonym": [], "xref": [ "UMLS:C4022985" ], "is_a": [ "HP:0005938" ], "is_obsolete": "", "replace_id": "" }, "HP:0012261": { "name": [ "abnormal respiratory motile cilium physiology", "abnormal respiratory motile cilium physiology" ], "alt_id": [], "def": "Any functional anomaly of the respiratory motile cilia.", "synonym": [], "xref": [ "UMLS:C4022984" ], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0012262": { "name": [ "abnormal ciliary motility", "abnormal ciliary motility" ], "alt_id": [], "def": "Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.", "synonym": [], "xref": [ "UMLS:C4022983" ], "is_a": [ "HP:0012261" ], "is_obsolete": "", "replace_id": "" }, "HP:0012263": { "name": [ "immotile cilia", "immotile cilium" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1855672" ], "is_a": [ "HP:0012262" ], "is_obsolete": "", "replace_id": "" }, "HP:0012264": { "name": [ "absent central microtubular pair morphology of respiratory motile cilia", "absent central microtubular pair morphology of respiratory motile cilium" ], "alt_id": [], "def": "Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.", "synonym": [], "xref": [ "UMLS:C4022982" ], "is_a": [ "HP:0005938" ], "is_obsolete": "", "replace_id": "" }, "HP:0012265": { "name": [ "ciliary dyskinesia", "ciliary dyskinesia" ], "alt_id": [], "def": "A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia.", "synonym": [ [ "lack of coordinated beating of respiratory cilia", "lack of coordinated beating of respiratory cilium" ] ], "xref": [ "MSH:D002925", "SNOMEDCT_US:86204009", "UMLS:C0008780" ], "is_a": [ "HP:0012262" ], "is_obsolete": "", "replace_id": "" }, "HP:0012266": { "name": [ "t - wave alternans", "t - wave alternans" ], "alt_id": [], "def": "A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.", "synonym": [], "xref": [ "SNOMEDCT_US:428550008", "UMLS:C1998313" ], "is_a": [ "HP:0005135" ], "is_obsolete": "", "replace_id": "" }, "HP:0012267": { "name": [ "absent respiratory ciliary axoneme radial spokes", "absent respiratory ciliary axoneme radial spoke" ], "alt_id": [], "def": "Absence of the radial spokes of the axoneme of the respiratory cilium.", "synonym": [], "xref": [ "UMLS:C4022981" ], "is_a": [ "HP:0005938" ], "is_obsolete": "", "replace_id": "" }, "HP:0012268": { "name": [ "myxoid liposarcoma", "myxoid liposarcoma" ], "alt_id": [], "def": "A liposarcoma that contains myxomatous tissue.", "synonym": [], "xref": [ "MSH:D018208", "SNOMEDCT_US:27849002", "SNOMEDCT_US:404069006", "UMLS:C0206634" ], "is_a": [ "HP:0012034" ], "is_obsolete": "", "replace_id": "" }, "HP:0012269": { "name": [ "abnormal muscle glycogen content", "abnormal muscle glycogen content" ], "alt_id": [], "def": "Any anomaly in the amount of glycogen in muscle tissue.", "synonym": [], "xref": [ "UMLS:C4022980" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0012270": { "name": [ "decreased muscle glycogen content", "decreased muscle glycogen content" ], "alt_id": [], "def": "A decreased amount of glycogen in muscle tissue.", "synonym": [], "xref": [ "UMLS:C4022979" ], "is_a": [ "HP:0012269" ], "is_obsolete": "", "replace_id": "" }, "HP:0012271": { "name": [ "episodic upper airway obstruction", "episodic upper airway obstruction" ], "alt_id": [], "def": "Intermittent episodes of increased resistance to the passage of air in the upper airway.", "synonym": [], "xref": [ "UMLS:C4022978" ], "is_a": [ "HP:0002781" ], "is_obsolete": "", "replace_id": "" }, "HP:0012272": { "name": [ "j wave", "j wave" ], "alt_id": [], "def": "The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.", "synonym": [ [ "ekg j waves", "ekg j wave" ], [ "osborne waves", "osborne wave" ] ], "xref": [ "UMLS:C4018858" ], "is_a": [ "HP:0003115" ], "is_obsolete": "", "replace_id": "" }, "HP:0012273": { "name": [ "increased carotid artery intimal medial thickness", "increase carotid artery intimal medial thickness" ], "alt_id": [], "def": "An increase in the combined thickness of the intima and media of the carotid artery.", "synonym": [], "xref": [ "UMLS:C4022977" ], "is_a": [ "HP:0005344" ], "is_obsolete": "", "replace_id": "" }, "HP:0012274": { "name": [ "autosomal dominant inheritance with paternal imprinting", "autosomal dominant inheritance with paternal imprinting" ], "alt_id": [], "def": "A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing.", "synonym": [], "xref": [ "UMLS:C4022976" ], "is_a": [ "HP:0000006" ], "is_obsolete": "", "replace_id": "" }, "HP:0012275": { "name": [ "autosomal dominant inheritance with maternal imprinting", "autosomal dominant inheritance with maternal imprinting" ], "alt_id": [], "def": "A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing.", "synonym": [], "xref": [ "UMLS:C4022975" ], "is_a": [ "HP:0000006" ], "is_obsolete": "", "replace_id": "" }, "HP:0012276": { "name": [ "digital flexor tenosynovitis", "digital flexor tenosynovitis" ], "alt_id": [], "def": "Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit.", "synonym": [ [ "trigger finger", "trigger finger" ] ], "xref": [ "UMLS:C4022974" ], "is_a": [ "HP:0100261" ], "is_obsolete": "", "replace_id": "" }, "HP:0012277": { "name": [ "hypoglycinemia", "hypoglycinemia" ], "alt_id": [], "def": "An abnormally reduced concentration of glycine in the blood.", "synonym": [ [ "low blood glycine levels", "low blood glycine level" ] ], "xref": [ "UMLS:C4022973" ], "is_a": [ "HP:0010895" ], "is_obsolete": "", "replace_id": "" }, "HP:0012278": { "name": [ "abnormal circulating serine concentration", "abnormal circulate serine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of serine in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4022972" ], "is_a": [ "HP:0010894" ], "is_obsolete": "", "replace_id": "" }, "HP:0012279": { "name": [ "hyposerinemia", "hyposerinemia" ], "alt_id": [], "def": "Reduced concentration of serine in the blood.", "synonym": [ [ "low blood serine levels", "low blood serine level" ] ], "xref": [ "UMLS:C4022971" ], "is_a": [ "HP:0012278" ], "is_obsolete": "", "replace_id": "" }, "HP:0012280": { "name": [ "hepatic amyloidosis", "hepatic amyloidosis" ], "alt_id": [], "def": "A form of amyloidosis that affects the liver.", "synonym": [], "xref": [ "SNOMEDCT_US:9551004", "UMLS:C0267839" ], "is_a": [ "HP:0011034", "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0012281": { "name": [ "chylous ascites", "chylous ascites" ], "alt_id": [], "def": "Extravasation of chyle into the peritoneal cavity.", "synonym": [ [ "chyloperitoneum", "chyloperitoneum" ] ], "xref": [ "MSH:D002915", "SNOMEDCT_US:52985009", "UMLS:C0008732" ], "is_a": [ "HP:0001541" ], "is_obsolete": "", "replace_id": "" }, "HP:0012282": { "name": [ "morbilliform rash", "morbilliform rash" ], "alt_id": [], "def": "An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days.", "synonym": [], "xref": [ "SNOMEDCT_US:247470007", "SNOMEDCT_US:50495000", "UMLS:C0234918" ], "is_a": [ "HP:4000054" ], "is_obsolete": "", "replace_id": "" }, "HP:0012283": { "name": [ "small distal femoral epiphysis", "small distal femoral epiphysis" ], "alt_id": [], "def": "Reduced size of the Distal epiphysis of femur.", "synonym": [ [ "small end part of outermost thighbone", "small end part of outermost thighbone" ] ], "xref": [ "UMLS:C4022970" ], "is_a": [ "HP:0010590" ], "is_obsolete": "", "replace_id": "" }, "HP:0012284": { "name": [ "small proximal tibial epiphyses", "small proximal tibial epiphysis" ], "alt_id": [], "def": "Reduced size of the proximal epiphysis of the tibia.", "synonym": [ [ "small end part of innermost shankbone", "small end part of innermost shankbone" ], [ "small end part of innermost shinbone", "small end part of innermost shinbone" ] ], "xref": [ "UMLS:C4022969" ], "is_a": [ "HP:0010585", "HP:0010591" ], "is_obsolete": "", "replace_id": "" }, "HP:0012285": { "name": [ "abnormal hypothalamus physiology", "abnormal hypothalamus physiology" ], "alt_id": [], "def": "An abnormal functionality of the hypothalamus.", "synonym": [], "xref": [ "UMLS:C4022968" ], "is_a": [ "HP:0000864", "HP:0010662", "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0012286": { "name": [ "abnormal hypothalamus morphology", "abnormal hypothalamus morphology" ], "alt_id": [ "HP:0002443" ], "def": "Any structural anomaly of the hypothalamus.", "synonym": [ [ "abnormal shape of hypothalamus", "abnormal shape of hypothalamus" ], [ "abnormality of hypothalamus morphology", "abnormality of hypothalamus morphology" ], [ "abnormality of the hypothalamus", "abnormality of the hypothalamus" ] ], "xref": [ "UMLS:C4021095" ], "is_a": [ "HP:0010662" ], "is_obsolete": "", "replace_id": "" }, "HP:0012287": { "name": [ "hypothalamic luteinizing hormone - releasing hormone deficiency", "hypothalamic luteinizing hormone - release hormone deficiency" ], "alt_id": [], "def": "Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.", "synonym": [], "xref": [ "UMLS:C4022967" ], "is_a": [ "HP:0012285" ], "is_obsolete": "", "replace_id": "" }, "HP:0012288": { "name": [ "neoplasm of head and neck", "neoplasm of head and neck" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx.", "synonym": [ [ "head and neck cancer", "head and neck cancer" ], [ "head and neck tumor", "head and neck tumor" ], [ "head and neck tumour", "head and neck tumour" ] ], "xref": [ "MSH:D006258", "SNOMEDCT_US:255055008", "SNOMEDCT_US:255056009", "UMLS:C0018671", "UMLS:C0278996" ], "is_a": [ "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0012289": { "name": [ "facial neoplasm", "facial neoplasm" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the face.", "synonym": [ [ "face tumor", "face tumor" ], [ "face tumour", "face tumour" ] ], "xref": [ "MSH:D005153", "NCIT:C3262", "SNOMEDCT_US:126632002", "UMLS:C0015461" ], "is_a": [ "HP:0012288" ], "is_obsolete": "", "replace_id": "" }, "HP:0012290": { "name": [ "mouth neoplasm", "mouth neoplasm" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the mouth.", "synonym": [ [ "lesion of mouth", "lesion of mouth" ], [ "mouth tumor", "mouth tumor" ], [ "mouth tumour", "mouth tumour" ], [ "neoplasm of the mouth", "neoplasm of the mouth" ] ], "xref": [ "MSH:D009062", "NCIT:C3262", "SNOMEDCT_US:126797001", "SNOMEDCT_US:235075007", "UMLS:C0026640" ], "is_a": [ "HP:0012288" ], "is_obsolete": "", "replace_id": "" }, "HP:0012291": { "name": [ "obsolete tracheal neoplasm", "obsolete tracheal neoplasm" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0100551" }, "HP:0012292": { "name": [ "fusion of gums", "fusion of gum" ], "alt_id": [], "def": "A congenital defect with an abnormal joining of the gums of the upper and lower jaw.", "synonym": [ [ "fusion of gums", "fusion of gum" ], [ "fusion of the gingiva", "fusion of the gingiva" ], [ "gingival synechia", "gingival synechia" ], [ "partial fusion of the gums", "partial fusion of the gum" ], [ "synechia of the gums", "synechia of the gum" ], [ "upper and lower gums fused together", "upper and low gum fuse together" ] ], "xref": [ "UMLS:C4022966" ], "is_a": [ "HP:0000168" ], "is_obsolete": "", "replace_id": "" }, "HP:0012293": { "name": [ "abnormal genital pigmentation", "abnormal genital pigmentation" ], "alt_id": [], "def": "An abnormal pigmentation pattern of the external genitalia.", "synonym": [], "xref": [ "UMLS:C4022965" ], "is_a": [ "HP:0000811" ], "is_obsolete": "", "replace_id": "" }, "HP:0012294": { "name": [ "abnormal occipital bone morphology", "abnormal occipital bone morphology" ], "alt_id": [], "def": "Abnormality of the occipital bone of the skull.", "synonym": [ [ "abnormality of the occipital bone", "abnormality of the occipital bone" ] ], "xref": [ "UMLS:C4022964" ], "is_a": [ "HP:0000929" ], "is_obsolete": "", "replace_id": "" }, "HP:0012295": { "name": [ "slender middle phalanx of finger", "slender middle phalanx of finger" ], "alt_id": [], "def": "Reduced diameter of the middle phalanx of finger.", "synonym": [ [ "slender middle bone of finger", "slender middle bone of finger" ] ], "xref": [ "UMLS:C4022963" ], "is_a": [ "HP:0009833" ], "is_obsolete": "", "replace_id": "" }, "HP:0012296": { "name": [ "slender distal phalanx of finger", "slender distal phalanx of finger" ], "alt_id": [], "def": "Reduced diameter of the distal phalanx of finger.", "synonym": [ [ "slender outermost bone of finger", "slender outermost bone of finger" ] ], "xref": [ "UMLS:C4022962" ], "is_a": [ "HP:0009832" ], "is_obsolete": "", "replace_id": "" }, "HP:0012297": { "name": [ "slender proximal phalanx of finger", "slender proximal phalanx of finger" ], "alt_id": [], "def": "Reduced diameter of the proximal phalanx of finger.", "synonym": [ [ "slender innermost bone of finger", "slender innermost bone of finger" ] ], "xref": [ "UMLS:C4022961" ], "is_a": [ "HP:0009834" ], "is_obsolete": "", "replace_id": "" }, "HP:0012298": { "name": [ "long middle phalanx of finger", "long middle phalanx of finger" ], "alt_id": [], "def": "Increased length of the middle phalanx of finger.", "synonym": [ [ "long middle bone of finger", "long middle bone of finger" ] ], "xref": [ "UMLS:C4022960" ], "is_a": [ "HP:0009833" ], "is_obsolete": "", "replace_id": "" }, "HP:0012299": { "name": [ "long distal phalanx of finger", "long distal phalanx of finger" ], "alt_id": [], "def": "Increased length of the distal phalanx of finger.", "synonym": [ [ "long outermost bone of finger", "long outermost bone of finger" ] ], "xref": [ "UMLS:C4021865" ], "is_a": [ "HP:0009832" ], "is_obsolete": "", "replace_id": "" }, "HP:0012300": { "name": [ "ureteral agenesis", "ureteral agenesis" ], "alt_id": [], "def": "Failure of the ureter to undergo development.", "synonym": [], "xref": [ "UMLS:C4022959" ], "is_a": [ "HP:0025633" ], "is_obsolete": "", "replace_id": "" }, "HP:0012301": { "name": [ "type ii transferrin isoform profile", "type ii transferrin isoform profile" ], "alt_id": [], "def": "Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.", "synonym": [ [ "abnormal isoelectric focusing of serum transferrin , type 2 pattern", "abnormal isoelectric focusing of serum transferrin , type 2 pattern" ], [ "abnormal isoelectric focusing of serum transferrin , type ii pattern", "abnormal isoelectric focusing of serum transferrin , type ii pattern" ], [ "isoelectric focusing of serum transferrin consistent with cdg type ii", "isoelectric focusing of serum transferrin consistent with cdg type ii" ], [ "type 2 transferrin isoform profile", "type 2 transferrin isoform profile" ] ], "xref": [ "UMLS:C4021094" ], "is_a": [ "HP:0003160" ], "is_obsolete": "", "replace_id": "" }, "HP:0012302": { "name": [ "herpes simplex encephalitis", "herpes simplex encephalitis" ], "alt_id": [], "def": "A severe virus infection of the central nervous system by the herpes simplex virus (HSV).", "synonym": [], "xref": [ "MSH:D020803", "SNOMEDCT_US:428638009", "UMLS:C0276226" ], "is_a": [ "HP:0033993" ], "is_obsolete": "", "replace_id": "" }, "HP:0012303": { "name": [ "abnormal aortic arch morphology", "abnormal aortic arch morphology" ], "alt_id": [], "def": "An anomaly of the arch of aorta.", "synonym": [ [ "abnormality of the aortic arch", "abnormality of the aortic arch" ] ], "xref": [ "Fyler:2700", "SNOMEDCT_US:448742006", "UMLS:C3163801" ], "is_a": [ "HP:0001679" ], "is_obsolete": "", "replace_id": "" }, "HP:0012304": { "name": [ "hypoplastic aortic arch", "hypoplastic aortic arch" ], "alt_id": [], "def": "Underdevelopment of the arch of aorta.", "synonym": [ [ "aortic arch hypoplasia", "aortic arch hypoplasia" ], [ "underdeveloped aortic arch", "underdeveloped aortic arch" ] ], "xref": [ "Fyler:2704", "SNOMEDCT_US:60787001", "UMLS:C0265881" ], "is_a": [ "HP:0012303" ], "is_obsolete": "", "replace_id": "" }, "HP:0012305": { "name": [ "coarctation of the descending aortic arch", "coarctation of the descend aortic arch" ], "alt_id": [], "def": "Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.", "synonym": [], "xref": [ "UMLS:C4022958" ], "is_a": [ "HP:0001680", "HP:0012303" ], "is_obsolete": "", "replace_id": "" }, "HP:0012306": { "name": [ "abnormal rib ossification", "abnormal rib ossification" ], "alt_id": [], "def": "An anomaly of the process of rib bone formation.", "synonym": [ [ "abnormal maturation of rib bones", "abnormal maturation of rib bone" ] ], "xref": [ "UMLS:C4022957" ], "is_a": [ "HP:0000772", "HP:0003336" ], "is_obsolete": "", "replace_id": "" }, "HP:0012307": { "name": [ "spatulate ribs", "spatulate rib" ], "alt_id": [], "def": "Ribs that are increased in width and taper to the posterior ends.", "synonym": [], "xref": [ "UMLS:C1856637" ], "is_a": [ "HP:0000885" ], "is_obsolete": "", "replace_id": "" }, "HP:0012308": { "name": [ "decreased serum complement c9", "decrease serum complement c9" ], "alt_id": [], "def": "A reduced level of the complement component C9 in circulation.", "synonym": [ [ "decreased serum c9", "decrease serum c9" ] ], "xref": [ "UMLS:C4021093" ], "is_a": [ "HP:0033057" ], "is_obsolete": "", "replace_id": "" }, "HP:0012309": { "name": [ "cutaneous amyloidosis", "cutaneous amyloidosis" ], "alt_id": [], "def": "The presence of amyloid deposition in the superficial dermis.", "synonym": [], "xref": [ "MSH:C562642", "SNOMEDCT_US:201337008", "SNOMEDCT_US:281882003", "SNOMEDCT_US:282834007", "SNOMEDCT_US:718105008", "UMLS:C0268397" ], "is_a": [ "HP:0011034" ], "is_obsolete": "", "replace_id": "" }, "HP:0012310": { "name": [ "abnormal monocyte count", "abnormal monocyte count" ], "alt_id": [], "def": "An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.", "synonym": [ [ "abnormal monocyte number", "abnormal monocyte number" ] ], "xref": [ "SNOMEDCT_US:165540007", "SNOMEDCT_US:165541006", "UMLS:C0580319" ], "is_a": [ "HP:0011893", "HP:0012144" ], "is_obsolete": "", "replace_id": "" }, "HP:0012311": { "name": [ "monocytosis", "monocytosis" ], "alt_id": [], "def": "An increased number of circulating monocytes.", "synonym": [ [ "high blood monocyte number", "high blood monocyte number" ] ], "xref": [ "SNOMEDCT_US:19636003", "UMLS:C0085702" ], "is_a": [ "HP:0012310" ], "is_obsolete": "", "replace_id": "" }, "HP:0012312": { "name": [ "monocytopenia", "monocytopenia" ], "alt_id": [], "def": "An decreased number of circulating monocytes.", "synonym": [ [ "low blood monocyte number", "low blood monocyte number" ] ], "xref": [ "SNOMEDCT_US:165539005", "UMLS:C0427544" ], "is_a": [ "HP:0012310" ], "is_obsolete": "", "replace_id": "" }, "HP:0012313": { "name": [ "heberden 's node", "heberden 's node" ], "alt_id": [], "def": "Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.", "synonym": [], "xref": [ "SNOMEDCT_US:371598009", "UMLS:C0018862" ], "is_a": [ "HP:0006247" ], "is_obsolete": "", "replace_id": "" }, "HP:0012314": { "name": [ "bouchard 's node", "bouchard 's node" ], "alt_id": [], "def": "Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.", "synonym": [], "xref": [ "SNOMEDCT_US:20243008", "UMLS:C0263780" ], "is_a": [ "HP:0006247" ], "is_obsolete": "", "replace_id": "" }, "HP:0012315": { "name": [ "histiocytoma", "histiocytoma" ], "alt_id": [], "def": "A neoplasm containing histiocytes.", "synonym": [], "xref": [ "MSH:D051642", "SNOMEDCT_US:128741006", "SNOMEDCT_US:302843004", "UMLS:C1509147" ], "is_a": [ "HP:0012316" ], "is_obsolete": "", "replace_id": "" }, "HP:0012316": { "name": [ "fibrous tissue neoplasm", "fibrous tissue neoplasm" ], "alt_id": [], "def": "Any neoplasm composed of fibrous tissue.", "synonym": [], "xref": [ "MSH:D018218", "UMLS:C0206643" ], "is_a": [ "HP:0011792" ], "is_obsolete": "", "replace_id": "" }, "HP:0012317": { "name": [ "sacroiliac arthritis", "sacroiliac arthritis" ], "alt_id": [], "def": "Inflammation of the sacroiliac joint, generally accompanied by lower back pain.", "synonym": [ [ "sacroiliitis", "sacroiliitis" ] ], "xref": [ "MSH:C563037", "UMLS:C0748473" ], "is_a": [ "HP:0002758", "HP:0100781" ], "is_obsolete": "", "replace_id": "" }, "HP:0012318": { "name": [ "occipital neuralgia", "occipital neuralgia" ], "alt_id": [], "def": "A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side.", "synonym": [], "xref": [ "SNOMEDCT_US:71760005", "UMLS:C0007863" ], "is_a": [ "HP:0002315", "HP:0033345" ], "is_obsolete": "", "replace_id": "" }, "HP:0012319": { "name": [ "absent pigmentation of the abdomen", "absent pigmentation of the abdomen" ], "alt_id": [], "def": "Lack of skin pigmentation (coloring) of the abdomen.", "synonym": [], "xref": [ "UMLS:C4022956" ], "is_a": [ "HP:0200098" ], "is_obsolete": "", "replace_id": "" }, "HP:0012320": { "name": [ "absent pigmentation of the limbs", "absent pigmentation of the limb" ], "alt_id": [], "def": "Lack of skin pigmentation (coloring) of the arms and legs.", "synonym": [], "xref": [ "UMLS:C4022955" ], "is_a": [ "HP:0200098" ], "is_obsolete": "", "replace_id": "" }, "HP:0012321": { "name": [ "d - 2 - hydroxyglutaric aciduria", "d - 2 - hydroxyglutaric aciduria" ], "alt_id": [], "def": "An increased concentration of 2-hydroxyglutaric acid in the urine.", "synonym": [], "xref": [ "SNOMEDCT_US:237960000", "UMLS:C1833429" ], "is_a": [ "HP:0032278" ], "is_obsolete": "", "replace_id": "" }, "HP:0012322": { "name": [ "perifolliculitis", "perifolliculitis" ], "alt_id": [], "def": "Inflammation surrounding hair follicles.", "synonym": [ [ "perifollicular inflammation", "perifollicular inflammation" ] ], "xref": [ "SNOMEDCT_US:83341004", "UMLS:C0263006" ], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0012323": { "name": [ "sleep myoclonus", "sleep myoclonus" ], "alt_id": [], "def": "Myoclonus that occurs during the initial phases of sleep.", "synonym": [], "xref": [ "MSH:D009207", "SNOMEDCT_US:34101000119105", "UMLS:C0751352" ], "is_a": [ "HP:0001336" ], "is_obsolete": "", "replace_id": "" }, "HP:0012324": { "name": [ "myeloid leukemia", "myeloid leukemia" ], "alt_id": [], "def": "A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow.", "synonym": [ [ "myeloid leukaemia", "myeloid leukaemia" ] ], "xref": [ "MSH:D007951", "SNOMEDCT_US:128934006", "SNOMEDCT_US:188732008", "SNOMEDCT_US:37810007", "UMLS:C0023470" ], "is_a": [ "HP:0001909" ], "is_obsolete": "", "replace_id": "" }, "HP:0012325": { "name": [ "chronic myelomonocytic leukemia", "chronic myelomonocytic leukemia" ], "alt_id": [], "def": "A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.", "synonym": [ [ "chronic myelomonocytic leukaemia", "chronic myelomonocytic leukaemia" ] ], "xref": [ "MSH:D015477", "SNOMEDCT_US:127225006", "SNOMEDCT_US:128831004", "UMLS:C0023480" ], "is_a": [ "HP:0012324" ], "is_obsolete": "", "replace_id": "" }, "HP:0012326": { "name": [ "abnormal celiac artery morphology", "abnormal celiac artery morphology" ], "alt_id": [], "def": "An anomaly of the celiac artery.", "synonym": [ [ "abnormal coeliac artery morphology", "abnormal coeliac artery morphology" ], [ "abnormality of the celiac artery", "abnormality of the celiac artery" ], [ "abnormality of the coeliac artery", "abnormality of the coeliac artery" ] ], "xref": [ "UMLS:C4022954" ], "is_a": [ "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:0012327": { "name": [ "celiac artery compression", "celiac artery compression" ], "alt_id": [], "def": "Compression of the celiac artery.", "synonym": [ [ "celiac axis syndrome", "celiac axis syndrome" ], [ "coeliac artery compression", "coeliac artery compression" ], [ "coeliac axis syndrome", "coeliac axis syndrome" ], [ "dunbar syndrome", "dunbar syndrome" ], [ "median arcuate ligament syndrome", "median arcuate ligament syndrome" ] ], "xref": [ "SNOMEDCT_US:9250002", "UMLS:C0152098", "UMLS:C4020693" ], "is_a": [ "HP:0012326" ], "is_obsolete": "", "replace_id": "" }, "HP:0012328": { "name": [ "cementoma", "cementoma" ], "alt_id": [], "def": "An odontogenic tumor of the cementum of tooth.", "synonym": [], "xref": [ "MSH:D002485", "SNOMEDCT_US:23255001", "SNOMEDCT_US:37258009", "UMLS:C0007659" ], "is_a": [ "HP:0100612" ], "is_obsolete": "", "replace_id": "" }, "HP:0012329": { "name": [ "tufted angioma", "tufted angioma" ], "alt_id": [], "def": "A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation.", "synonym": [ [ "angioblastoma", "angioblastoma" ], [ "angioblastoma of nakagawa", "angioblastoma of nakagawa" ], [ "hypertrophic hemangioma", "hypertrophic hemangioma" ], [ "progressive capillary hemangioma", "progressive capillary hemangioma" ], [ "tufted hemangioma", "tufted hemangioma" ] ], "xref": [ "MSH:C536924", "SNOMEDCT_US:254786000", "SNOMEDCT_US:705155008", "UMLS:C0346073" ], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0012330": { "name": [ "pyelonephritis", "pyelonephritis" ], "alt_id": [], "def": "An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.", "synonym": [], "xref": [ "MSH:D011704", "SNOMEDCT_US:45816000", "UMLS:C0034186" ], "is_a": [ "HP:0000123" ], "is_obsolete": "", "replace_id": "" }, "HP:0012331": { "name": [ "abnormal autonomic nervous system morphology", "abnormal autonomic nervous system morphology" ], "alt_id": [], "def": "A structural abnormality of the autonomic nervous system.", "synonym": [], "xref": [ "UMLS:C4022953" ], "is_a": [ "HP:0002270" ], "is_obsolete": "", "replace_id": "" }, "HP:0012332": { "name": [ "abnormal autonomic nervous system physiology", "abnormal autonomic nervous system physiology" ], "alt_id": [ "HP:0002271", "HP:0002387", "HP:0002459", "HP:0007310" ], "def": "A functional abnormality of the autonomic nervous system.", "synonym": [ [ "autonomic dysfunction", "autonomic dysfunction" ], [ "autonomic dysregulation", "autonomic dysregulation" ], [ "dysautonomia", "dysautonomia" ] ], "xref": [ "UMLS:C4022952" ], "is_a": [ "HP:0002270" ], "is_obsolete": "", "replace_id": "" }, "HP:0012333": { "name": [ "abnormal sudomotor regulation", "abnormal sudomotor regulation" ], "alt_id": [], "def": "An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration.", "synonym": [ [ "sudomotor sympathetic dysfunction", "sudomotor sympathetic dysfunction" ] ], "xref": [ "UMLS:C4021092" ], "is_a": [ "HP:0012332" ], "is_obsolete": "", "replace_id": "" }, "HP:0012334": { "name": [ "extrahepatic cholestasis", "extrahepatic cholestasis" ], "alt_id": [], "def": "Impairment of bile flow due to obstruction in large bile ducts outside the liver.", "synonym": [], "xref": [ "MSH:D001651", "SNOMEDCT_US:20719006", "SNOMEDCT_US:8262006", "UMLS:C0005398" ], "is_a": [ "HP:0001396" ], "is_obsolete": "", "replace_id": "" }, "HP:0012335": { "name": [ "abnormality of folate metabolism", "abnormality of folate metabolism" ], "alt_id": [], "def": "An abnormality of the metabolism of folic acid, which is also known as vitamin B9.", "synonym": [], "xref": [ "UMLS:C4022951" ], "is_a": [ "HP:0004340" ], "is_obsolete": "", "replace_id": "" }, "HP:0012336": { "name": [ "obsolete reduced cerebrospinal fluid 5 - methyltetrahydrofolate concentration", "obsolete reduce cerebrospinal fluid 5 - methyltetrahydrofolate concentration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0012446" }, "HP:0012337": { "name": [ "abnormal homeostasis", "abnormal homeostasis" ], "alt_id": [], "def": "An anomaly in the processes involved in the maintenance of an internal equilibrium.", "synonym": [], "xref": [ "MP:0001764 \"Abnormal homeostasis\"", "UMLS:C4022950" ], "is_a": [ "HP:0001939" ], "is_obsolete": "", "replace_id": "" }, "HP:0012338": { "name": [ "abnormal energy expenditure", "abnormal energy expenditure" ], "alt_id": [], "def": "Any anomaly in the utilization of energy (calories).", "synonym": [ [ "abnormal energy expenditure", "abnormal energy expenditure" ] ], "xref": [ "UMLS:C4022949" ], "is_a": [ "HP:0012337" ], "is_obsolete": "", "replace_id": "" }, "HP:0012339": { "name": [ "increased resting energy expenditure", "increase rest energy expenditure" ], "alt_id": [], "def": "An increase in the number of calories used per unit time.", "synonym": [], "xref": [ "UMLS:C4022948" ], "is_a": [ "HP:0012338" ], "is_obsolete": "", "replace_id": "" }, "HP:0012340": { "name": [ "decreased resting energy expenditure", "decrease rest energy expenditure" ], "alt_id": [], "def": "A reduction in the number of calories used per unit time.", "synonym": [], "xref": [ "UMLS:C4022947" ], "is_a": [ "HP:0012338" ], "is_obsolete": "", "replace_id": "" }, "HP:0012341": { "name": [ "microprolactinoma", "microprolactinoma" ], "alt_id": [], "def": "A pituitary prolactin cell adenoma of less than 10 mm diameter.", "synonym": [], "xref": [ "MSH:D015175", "SNOMEDCT_US:253010003", "UMLS:C0344452" ], "is_a": [ "HP:0006767" ], "is_obsolete": "", "replace_id": "" }, "HP:0012342": { "name": [ "macroprolactinoma", "macroprolactinoma" ], "alt_id": [], "def": "A pituitary prolactin cell adenoma of more than 10 mm diameter.", "synonym": [], "xref": [ "MSH:D015175", "SNOMEDCT_US:253011004", "UMLS:C0344453" ], "is_a": [ "HP:0006767" ], "is_obsolete": "", "replace_id": "" }, "HP:0012343": { "name": [ "decreased circulating ferritin concentration", "decrease circulate ferritin concentration" ], "alt_id": [], "def": "Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.", "synonym": [ [ "decreased plasma ferritin", "decrease plasma ferritin" ], [ "decreased serum ferritin", "decrease serum ferritin" ], [ "low ferritin level", "low ferritin level" ], [ "reduced serum ferritin", "reduce serum ferritin" ] ], "xref": [ "UMLS:C0241012" ], "is_a": [ "HP:0040133" ], "is_obsolete": "", "replace_id": "" }, "HP:0012344": { "name": [ "morphea", "morphea" ], "alt_id": [], "def": "Isolated patches of hardened skin (scleroderma).", "synonym": [], "xref": [ "MSH:D012594", "SNOMEDCT_US:201049004", "UMLS:C1527383" ], "is_a": [ "HP:0001072" ], "is_obsolete": "", "replace_id": "" }, "HP:0012345": { "name": [ "abnormal glycosylation", "abnormal glycosylation" ], "alt_id": [], "def": "An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule.", "synonym": [], "xref": [ "UMLS:C4022946" ], "is_a": [ "HP:0032245" ], "is_obsolete": "", "replace_id": "" }, "HP:0012346": { "name": [ "abnormal protein glycosylation", "abnormal protein glycosylation" ], "alt_id": [], "def": "An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.", "synonym": [], "xref": [ "UMLS:C4022945" ], "is_a": [ "HP:0012345" ], "is_obsolete": "", "replace_id": "" }, "HP:0012347": { "name": [ "abnormal protein n - linked glycosylation", "abnormal protein n - link glycosylation" ], "alt_id": [], "def": "An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein.", "synonym": [], "xref": [ "UMLS:C4022944" ], "is_a": [ "HP:0012346" ], "is_obsolete": "", "replace_id": "" }, "HP:0012348": { "name": [ "decreased galactosylation of n - linked protein glycosylation", "decreased galactosylation of n - link protein glycosylation" ], "alt_id": [], "def": "A reduction in the amount of galactose residues of N-glycans.", "synonym": [], "xref": [ "UMLS:C4022943" ], "is_a": [ "HP:0012347" ], "is_obsolete": "", "replace_id": "" }, "HP:0012349": { "name": [ "abnormal sialylation of n - linked protein glycosylation", "abnormal sialylation of n - link protein glycosylation" ], "alt_id": [], "def": "An anomaly of the addition of sialic acids to N-linked glycans.", "synonym": [], "xref": [ "UMLS:C4022942" ], "is_a": [ "HP:0012347" ], "is_obsolete": "", "replace_id": "" }, "HP:0012350": { "name": [ "decreased sialylation of n - linked protein glycosylation", "decreased sialylation of n - link protein glycosylation" ], "alt_id": [], "def": "Decreased addition of sialic acids to N-linked glycans.", "synonym": [], "xref": [ "UMLS:C4022941" ], "is_a": [ "HP:0012349" ], "is_obsolete": "", "replace_id": "" }, "HP:0012351": { "name": [ "increased sialylation of n - linked protein glycosylation", "increase sialylation of n - link protein glycosylation" ], "alt_id": [], "def": "Increased addition of sialic acids to N-linked glycans.", "synonym": [], "xref": [ "UMLS:C4022940" ], "is_a": [ "HP:0012349" ], "is_obsolete": "", "replace_id": "" }, "HP:0012352": { "name": [ "abnormal fucosylation of protein n - linked glycosylation", "abnormal fucosylation of protein n - link glycosylation" ], "alt_id": [], "def": "An anomaly of the addition of fucose sugar units to N-linked glycans.", "synonym": [], "xref": [ "UMLS:C4022939" ], "is_a": [ "HP:0012347" ], "is_obsolete": "", "replace_id": "" }, "HP:0012353": { "name": [ "decreased fucosylation of n - linked protein glycosylation", "decreased fucosylation of n - link protein glycosylation" ], "alt_id": [], "def": "Decreased addition of fucose sugar units to N-linked glycans.", "synonym": [], "xref": [ "UMLS:C4022938" ], "is_a": [ "HP:0012352" ], "is_obsolete": "", "replace_id": "" }, "HP:0012354": { "name": [ "increased fucosylation of n - linked protein glycosylation", "increase fucosylation of n - link protein glycosylation" ], "alt_id": [], "def": "Increased addition of fucose sugar units to N-linked glycans.", "synonym": [], "xref": [ "UMLS:C4022937" ], "is_a": [ "HP:0012352" ], "is_obsolete": "", "replace_id": "" }, "HP:0012355": { "name": [ "abnormal mannosylation of n - linked protein glycosylation", "abnormal mannosylation of n - link protein glycosylation" ], "alt_id": [], "def": "An anomaly of the addition of mannose to N-linked glycans.", "synonym": [], "xref": [ "UMLS:C4022936" ], "is_a": [ "HP:0012347" ], "is_obsolete": "", "replace_id": "" }, "HP:0012356": { "name": [ "decreased mannosylation of n - linked protein glycosylation", "decreased mannosylation of n - link protein glycosylation" ], "alt_id": [], "def": "Reduced addition of mannose to N-linked glycans.", "synonym": [], "xref": [ "UMLS:C4022935" ], "is_a": [ "HP:0012355" ], "is_obsolete": "", "replace_id": "" }, "HP:0012357": { "name": [ "increased mannosylation of n - linked protein glycosylation", "increase mannosylation of n - link protein glycosylation" ], "alt_id": [], "def": "Increased addition of mannose to N-linked glycans.", "synonym": [], "xref": [ "UMLS:C4022934" ], "is_a": [ "HP:0012355" ], "is_obsolete": "", "replace_id": "" }, "HP:0012358": { "name": [ "abnormal protein o - linked glycosylation", "abnormal protein o - link glycosylation" ], "alt_id": [], "def": "An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue.", "synonym": [], "xref": [ "UMLS:C4022933" ], "is_a": [ "HP:0012346" ], "is_obsolete": "", "replace_id": "" }, "HP:0012359": { "name": [ "abnormal fucosylation of o - linked protein glycosylation", "abnormal fucosylation of o - link protein glycosylation" ], "alt_id": [], "def": "An anomaly of the addition of fucose sugar units to O-linked glycans.", "synonym": [], "xref": [ "UMLS:C4022932" ], "is_a": [ "HP:0012358" ], "is_obsolete": "", "replace_id": "" }, "HP:0012360": { "name": [ "decreased fucosylation of o - linked protein glycosylation", "decreased fucosylation of o - link protein glycosylation" ], "alt_id": [], "def": "A reduction of the addition of fucose sugar units to O-linked glycans.", "synonym": [], "xref": [ "UMLS:C4022931" ], "is_a": [ "HP:0012359" ], "is_obsolete": "", "replace_id": "" }, "HP:0012361": { "name": [ "increased fucosylation of o - linked protein glycosylation", "increase fucosylation of o - link protein glycosylation" ], "alt_id": [], "def": "Increased addition of fucose sugar units to O-linked glycans.", "synonym": [], "xref": [ "UMLS:C4022930" ], "is_a": [ "HP:0012359" ], "is_obsolete": "", "replace_id": "" }, "HP:0012362": { "name": [ "abnormal sialylation of o - linked protein glycosylation", "abnormal sialylation of o - link protein glycosylation" ], "alt_id": [], "def": "An anomaly of the addition of sialic acids to O-linked glycans.", "synonym": [], "xref": [ "UMLS:C4022929" ], "is_a": [ "HP:0012358" ], "is_obsolete": "", "replace_id": "" }, "HP:0012363": { "name": [ "decreased sialylation of o - linked protein glycosylation", "decreased sialylation of o - link protein glycosylation" ], "alt_id": [], "def": "An reduced addition of sialic acids to O-linked glycans.", "synonym": [], "xref": [ "UMLS:C4022928" ], "is_a": [ "HP:0012362" ], "is_obsolete": "", "replace_id": "" }, "HP:0012364": { "name": [ "decreased urinary potassium", "decrease urinary potassium" ], "alt_id": [], "def": "A decreased concentration of potassium(1+) in the urine.", "synonym": [ [ "decreased urinary k", "decrease urinary k" ], [ "hypokaliuria", "hypokaliuria" ], [ "hypokaluria", "hypokaluria" ], [ "low urine potassium levels", "low urine potassium level" ] ], "xref": [ "SNOMEDCT_US:54781007", "UMLS:C0268024" ], "is_a": [ "HP:0012598" ], "is_obsolete": "", "replace_id": "" }, "HP:0012365": { "name": [ "hypophosphaturia", "hypophosphaturia" ], "alt_id": [], "def": "An abnormally decreased phosphate concentration in the urine.", "synonym": [ [ "low urine phosphate levels", "low urine phosphate level" ] ], "xref": [ "SNOMEDCT_US:91632005", "UMLS:C0268077" ], "is_a": [ "HP:0012599" ], "is_obsolete": "", "replace_id": "" }, "HP:0012366": { "name": [ "basilar invagination", "basilar invagination" ], "alt_id": [], "def": "Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama).", "synonym": [], "xref": [ "UMLS:C3887851" ], "is_a": [ "HP:0000932" ], "is_obsolete": "", "replace_id": "" }, "HP:0012367": { "name": [ "extra fontanelles", "extra fontanelle" ], "alt_id": [], "def": "Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull.", "synonym": [], "xref": [ "UMLS:C4022927" ], "is_a": [ "HP:0011328" ], "is_obsolete": "", "replace_id": "" }, "HP:0012368": { "name": [ "flat face", "flat face" ], "alt_id": [], "def": "Absence of concavity or convexity of the face when viewed in profile.", "synonym": [ [ "flat face", "flat face" ], [ "flat facial profile", "flat facial profile" ], [ "flat facial shape", "flat facial shape" ], [ "flat facies", "flat facies" ] ], "xref": [ "UMLS:C1853241" ], "is_a": [ "HP:0001999" ], "is_obsolete": "", "replace_id": "" }, "HP:0012369": { "name": [ "abnormality of malar bones", "abnormality of malar bone" ], "alt_id": [], "def": "An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla.", "synonym": [ [ "anomaly of the malar bones", "anomaly of the malar bone" ], [ "deformity of the malar bones", "deformity of the malar bone" ], [ "malar anomaly", "malar anomaly" ], [ "malformation of the malar bones", "malformation of the malar bone" ] ], "xref": [ "UMLS:C4022926" ], "is_a": [ "HP:0000309", "HP:0010668" ], "is_obsolete": "", "replace_id": "" }, "HP:0012370": { "name": [ "prominence of the zygomatic bone", "prominence of the zygomatic bone" ], "alt_id": [], "def": "Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'.", "synonym": [ [ "cheekbone excess", "cheekbone excess" ], [ "cheekbone prominence", "cheekbone prominence" ], [ "hyperplasia of cheekbone", "hyperplasia of cheekbone" ], [ "hyperplasia of zygomatic bone", "hyperplasia of zygomatic bone" ], [ "malar hypertrophy", "malar hypertrophy" ], [ "prominence of cheekbone", "prominence of cheekbone" ], [ "pronounced cheekbone", "pronounce cheekbone" ], [ "zygomatic bone excess", "zygomatic bone excess" ], [ "zygomatic hypertrophy", "zygomatic hypertrophy" ] ], "xref": [ "SNOMEDCT_US:427888001", "UMLS:C0375511", "UMLS:C1997760", "UMLS:C4082245" ], "is_a": [ "HP:0010668" ], "is_obsolete": "", "replace_id": "" }, "HP:0012371": { "name": [ "hyperplasia of midface", "hyperplasia of midface" ], "alt_id": [ "HP:0010279" ], "def": "Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face", "synonym": [ [ "big midface", "big midface" ], [ "hypertrophy of midface", "hypertrophy of midface" ], [ "large midface", "large midface" ], [ "midface hyperplasia", "midface hyperplasia" ], [ "midfacial excess", "midfacial excess" ], [ "midfacial prominence", "midfacial prominence" ], [ "overgrowth of the midface", "overgrowth of the midface" ] ], "xref": [ "UMLS:C0240309" ], "is_a": [ "HP:0000309" ], "is_obsolete": "", "replace_id": "" }, "HP:0012372": { "name": [ "abnormal eye morphology", "abnormal eye morphology" ], "alt_id": [ "HP:0000489", "HP:0012374" ], "def": "A structural anomaly of the globe of the eye, or bulbus oculi.", "synonym": [ [ "abnormal eye structure", "abnormal eye structure" ], [ "abnormality of the globe", "abnormality of the globe" ], [ "abnormally shaped eye", "abnormally shape eye" ] ], "xref": [ "Fyler:4863", "UMLS:C4022925" ], "is_a": [ "HP:0000478" ], "is_obsolete": "", "replace_id": "" }, "HP:0012373": { "name": [ "abnormal eye physiology", "abnormal eye physiology" ], "alt_id": [], "def": "A functional anomaly of the eye.", "synonym": [ [ "abnormal eye physiology", "abnormal eye physiology" ] ], "xref": [ "UMLS:C4022924" ], "is_a": [ "HP:0000478" ], "is_obsolete": "", "replace_id": "" }, "HP:0012374": { "name": [ "obsolete abnormal globe morphology", "obsolete abnormal globe morphology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0012372" }, "HP:0012375": { "name": [ "chemosis", "chemosis" ], "alt_id": [], "def": "Edema (swelling) of the bulbar conjunctiva.", "synonym": [], "xref": [ "SNOMEDCT_US:8148005", "UMLS:C0271298" ], "is_a": [ "HP:0000502" ], "is_obsolete": "", "replace_id": "" }, "HP:0012376": { "name": [ "microphakia", "microphakia" ], "alt_id": [], "def": "Abnormal smallness of the lens.", "synonym": [ [ "small lens", "small lens" ] ], "xref": [ "SNOMEDCT_US:35272001", "UMLS:C0266541" ], "is_a": [ "HP:0008063" ], "is_obsolete": "", "replace_id": "" }, "HP:0012377": { "name": [ "hemianopia", "hemianopia" ], "alt_id": [], "def": "Partial or complete loss of vision in one half of the visual field of one or both eyes.", "synonym": [ [ "hemianopsia", "hemianopsia" ] ], "xref": [ "MSH:D006423", "SNOMEDCT_US:77674003", "UMLS:C0018979" ], "is_a": [ "HP:0001123" ], "is_obsolete": "", "replace_id": "" }, "HP:0012378": { "name": [ "fatigue", "fatigue" ], "alt_id": [], "def": "A subjective feeling of tiredness characterized by a lack of energy and motivation.", "synonym": [ [ "fatigue", "fatigue" ], [ "tired", "tire" ], [ "tiredness", "tiredness" ] ], "xref": [ "MSH:D005221", "SNOMEDCT_US:248274002", "SNOMEDCT_US:84229001", "UMLS:C0015672" ], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0012379": { "name": [ "abnormal enzyme / coenzyme activity", "abnormal enzyme / coenzyme activity" ], "alt_id": [], "def": "An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme.", "synonym": [], "xref": [ "UMLS:C4022922" ], "is_a": [ "HP:0001939" ], "is_obsolete": "", "replace_id": "" }, "HP:0012380": { "name": [ "reduced carnitine o - palmitoyltransferase level", "reduce carnitine o - palmitoyltransferase level" ], "alt_id": [], "def": "Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.", "synonym": [], "xref": [ "UMLS:C4022921" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0012381": { "name": [ "delayed self - feeding during toddler years", "delay self - feed during toddler year" ], "alt_id": [], "def": "A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age).", "synonym": [], "xref": [ "UMLS:C4022920" ], "is_a": [ "HP:0011968" ], "is_obsolete": "", "replace_id": "" }, "HP:0012382": { "name": [ "left - to - right shunt", "left - to - right shunt" ], "alt_id": [], "def": "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right.", "synonym": [], "xref": [ "SNOMEDCT_US:66130006", "UMLS:C0428870" ], "is_a": [ "HP:0001693" ], "is_obsolete": "", "replace_id": "" }, "HP:0012383": { "name": [ "bidirectional shunt", "bidirectional shunt" ], "alt_id": [], "def": "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa.", "synonym": [], "xref": [ "SNOMEDCT_US:13352000", "UMLS:C0428872" ], "is_a": [ "HP:0001693" ], "is_obsolete": "", "replace_id": "" }, "HP:0012384": { "name": [ "rhinitis", "rhinitis" ], "alt_id": [], "def": "Inflammation of the nasal mucosa with nasal congestion.", "synonym": [ [ "nasal inflammation", "nasal inflammation" ] ], "xref": [ "MSH:D012220", "SNOMEDCT_US:70076002", "UMLS:C0035455", "UMLS:C2718128" ], "is_a": [ "HP:0000366" ], "is_obsolete": "", "replace_id": "" }, "HP:0012385": { "name": [ "camptodactyly", "camptodactyly" ], "alt_id": [], "def": "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.", "synonym": [ [ "permanent flexion of the finger or toe", "permanent flexion of the finger or toe" ] ], "xref": [ "SNOMEDCT_US:29271008", "UMLS:C0685409" ], "is_a": [ "HP:0030044" ], "is_obsolete": "", "replace_id": "" }, "HP:0012386": { "name": [ "absent hallux", "absent hallux" ], "alt_id": [], "def": "Aplasia of the hallux, that is, a development defect such that the big toe does not develop.", "synonym": [ [ "absent big toe", "absent big toe" ], [ "agenesis of the halluces", "agenesis of the hallux" ], [ "aplasia of the hallux", "aplasia of the hallux" ], [ "missing big toe", "miss big toe" ] ], "xref": [ "UMLS:C1841686" ], "is_a": [ "HP:0008362" ], "is_obsolete": "", "replace_id": "" }, "HP:0012387": { "name": [ "bronchitis", "bronchitis" ], "alt_id": [], "def": "Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.", "synonym": [], "xref": [ "MSH:D001991", "SNOMEDCT_US:32398004", "UMLS:C0006277" ], "is_a": [ "HP:0011947" ], "is_obsolete": "", "replace_id": "" }, "HP:0012388": { "name": [ "acute bronchitis", "acute bronchitis" ], "alt_id": [], "def": "Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness.", "synonym": [], "xref": [ "SNOMEDCT_US:10509002", "SNOMEDCT_US:35301006", "UMLS:C0149514" ], "is_a": [ "HP:0012387" ], "is_obsolete": "", "replace_id": "" }, "HP:0012389": { "name": [ "appendicular hypotonia", "appendicular hypotonia" ], "alt_id": [], "def": "Muscular hypotonia of one or more limbs.", "synonym": [], "xref": [ "UMLS:C4022919" ], "is_a": [ "HP:0001252" ], "is_obsolete": "", "replace_id": "" }, "HP:0012390": { "name": [ "anal fissure", "anal fissure" ], "alt_id": [], "def": "A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus.", "synonym": [ [ "anal erosion", "anal erosion" ] ], "xref": [ "MSH:D005401", "SNOMEDCT_US:20928004", "SNOMEDCT_US:30037006", "UMLS:C0016167" ], "is_a": [ "HP:0004378" ], "is_obsolete": "", "replace_id": "" }, "HP:0012391": { "name": [ "hyporeflexia of upper limbs", "hyporeflexia of upper limb" ], "alt_id": [], "def": "Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.", "synonym": [], "xref": [ "UMLS:C1836835" ], "is_a": [ "HP:0001265", "HP:0002817" ], "is_obsolete": "", "replace_id": "" }, "HP:0012392": { "name": [ "jaw hyporeflexia", "jaw hyporeflexia" ], "alt_id": [], "def": "Reduced intensity of muscle tendon reflexes in jaw.", "synonym": [ [ "mandibular hyporeflexia", "mandibular hyporeflexia" ] ], "xref": [ "UMLS:C4022918" ], "is_a": [ "HP:0001265", "HP:0045037" ], "is_obsolete": "", "replace_id": "" }, "HP:0012393": { "name": [ "allergy", "allergy" ], "alt_id": [], "def": "An allergy is an immune response or reaction to substances that are usually not harmful.", "synonym": [ [ "allergy", "allergy" ] ], "xref": [ "MSH:D006967", "SNOMEDCT_US:419076005", "UMLS:C1527304" ], "is_a": [ "HP:0100326" ], "is_obsolete": "", "replace_id": "" }, "HP:0012394": { "name": [ "iodine contrast allergy", "iodine contrast allergy" ], "alt_id": [], "def": "Allergy to iodine contrast media used in radiological studies.", "synonym": [], "xref": [ "UMLS:C4022917" ], "is_a": [ "HP:0012393" ], "is_obsolete": "", "replace_id": "" }, "HP:0012395": { "name": [ "seasonal allergy", "seasonal allergy" ], "alt_id": [], "def": "An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction.", "synonym": [ [ "seasonal allergy", "seasonal allergy" ] ], "xref": [ "MSH:D006255", "SNOMEDCT_US:21719001", "SNOMEDCT_US:300910009", "SNOMEDCT_US:367498001", "SNOMEDCT_US:444316004", "UMLS:C0018621" ], "is_a": [ "HP:0012393" ], "is_obsolete": "", "replace_id": "" }, "HP:0012396": { "name": [ "biliary dyskinesia", "biliary dyskinesia" ], "alt_id": [], "def": "A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction.", "synonym": [], "xref": [ "MSH:D001657", "SNOMEDCT_US:197432008", "UMLS:C0005416" ], "is_a": [ "HP:0012439" ], "is_obsolete": "", "replace_id": "" }, "HP:0012397": { "name": [ "aortic atherosclerotic lesion", "aortic atherosclerotic lesion" ], "alt_id": [], "def": "The presence of atheromas or atherosclerotic plaques in the aorta.", "synonym": [ [ "aortic atherosclerosis", "aortic atherosclerosis" ], [ "atherosclerosis of the aorta", "atherosclerosis of the aorta" ], [ "atherosclerotic changes of aorta", "atherosclerotic change of aorta" ], [ "plaque build - up in aorta artery", "plaque build - up in aorta artery" ] ], "xref": [ "SNOMEDCT_US:81817003", "UMLS:C0155733" ], "is_a": [ "HP:0001679", "HP:0002621" ], "is_obsolete": "", "replace_id": "" }, "HP:0012398": { "name": [ "peripheral edema", "peripheral edema" ], "alt_id": [], "def": "An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.", "synonym": [ [ "peripheral oedema", "peripheral oedema" ] ], "xref": [ "SNOMEDCT_US:271809000", "SNOMEDCT_US:82014009", "UMLS:C0085649" ], "is_a": [ "HP:0000969" ], "is_obsolete": "", "replace_id": "" }, "HP:0012399": { "name": [ "pressure ulcer", "pressure ulcer" ], "alt_id": [], "def": "A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips.", "synonym": [ [ "bedsore", "bedsore" ], [ "decubitus ulcer", "decubitus ulcer" ], [ "pressure sore", "pressure sore" ], [ "pressure ulcer", "pressure ulcer" ] ], "xref": [ "MSH:D003668", "SNOMEDCT_US:399912005", "SNOMEDCT_US:420226006", "UMLS:C0011127" ], "is_a": [ "HP:0200042" ], "is_obsolete": "", "replace_id": "" }, "HP:0012400": { "name": [ "abnormal aldolase level", "abnormal aldolase level" ], "alt_id": [], "def": "An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.", "synonym": [], "xref": [ "UMLS:C4022916" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0012401": { "name": [ "abnormal urine alpha - ketoglutarate concentration", "abnormal urine alpha - ketoglutarate concentration" ], "alt_id": [], "def": "A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.", "synonym": [ [ "abnormal urinary 2 - oxoglutarate level", "abnormal urinary 2 - oxoglutarate level" ], [ "abnormality of urine alpha ketoglutarate concentration", "abnormality of urine alpha ketoglutarate concentration" ] ], "xref": [ "UMLS:C4020902" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0012402": { "name": [ "increased urine alpha - ketoglutarate concentration", "increase urine alpha - ketoglutarate concentration" ], "alt_id": [], "def": "A greater than normal concentration of 2-oxoglutaric acid in the urine.", "synonym": [ [ "elevated urinary 2 - oxoglutarate", "elevate urinary 2 - oxoglutarate" ], [ "increased urine alpha - ketoglutarate concentration", "increase urine alpha - ketoglutarate concentration" ] ], "xref": [ "UMLS:C4022915" ], "is_a": [ "HP:0012401" ], "is_obsolete": "", "replace_id": "" }, "HP:0012403": { "name": [ "decreased urine alpha - ketoglutarate concentration", "decrease urine alpha - ketoglutarate concentration" ], "alt_id": [], "def": "A lower than normal concentration of 2-oxoglutaric acid in the urine.", "synonym": [ [ "decreased urinary 2 - oxoglutarate", "decrease urinary 2 - oxoglutarate" ] ], "xref": [ "UMLS:C4022914" ], "is_a": [ "HP:0012401" ], "is_obsolete": "", "replace_id": "" }, "HP:0012404": { "name": [ "abnormal urine citrate concentration", "abnormal urine citrate concentration" ], "alt_id": [], "def": "A deviation from normal of the concentration of citrate(3-) in the urine.", "synonym": [ [ "abnormal urine citrate concentration", "abnormal urine citrate concentration" ], [ "abnormal urine citric acid concentration", "abnormal urine citric acid concentration" ] ], "xref": [ "UMLS:C4022913" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0012405": { "name": [ "hypocitraturia", "hypocitraturia" ], "alt_id": [], "def": "A lower than normal concentration of citrate(3-) in the urine.", "synonym": [ [ "decreased urine citrate concentration", "decrease urine citrate concentration" ] ], "xref": [ "UMLS:C2673444" ], "is_a": [ "HP:0012404" ], "is_obsolete": "", "replace_id": "" }, "HP:0012406": { "name": [ "hypercitraturia", "hypercitraturia" ], "alt_id": [], "def": "A greater than normal concentration of citrate(3-) in the urine.", "synonym": [ [ "increased urine citrate concentration", "increase urine citrate concentration" ] ], "xref": [ "UMLS:C4021090" ], "is_a": [ "HP:0012404" ], "is_obsolete": "", "replace_id": "" }, "HP:0012407": { "name": [ "scissor gait", "scissor gait" ], "alt_id": [], "def": "A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.", "synonym": [ [ "scissor gait", "scissor gait" ], [ "scissor walk", "scissor walk" ], [ "scissors gait", "scissors gait" ] ], "xref": [ "MSH:D020233", "SNOMEDCT_US:22090007", "UMLS:C0231698" ], "is_a": [ "HP:0031958" ], "is_obsolete": "", "replace_id": "" }, "HP:0012408": { "name": [ "medullary nephrocalcinosis", "medullary nephrocalcinosis" ], "alt_id": [], "def": "The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).", "synonym": [], "xref": [ "SNOMEDCT_US:236447005", "UMLS:C0403477" ], "is_a": [ "HP:0000121" ], "is_obsolete": "", "replace_id": "" }, "HP:0012409": { "name": [ "cortical nephrocalcinosis", "cortical nephrocalcinosis" ], "alt_id": [], "def": "The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla).", "synonym": [], "xref": [ "SNOMEDCT_US:236446001", "UMLS:C0403476" ], "is_a": [ "HP:0000121" ], "is_obsolete": "", "replace_id": "" }, "HP:0012410": { "name": [ "pure red cell aplasia", "pure red cell aplasia" ], "alt_id": [], "def": "A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction.", "synonym": [ [ "red cell aplasia", "red cell aplasia" ] ], "xref": [ "MSH:D012010", "SNOMEDCT_US:50715003", "UMLS:C0034902" ], "is_a": [ "HP:0012131" ], "is_obsolete": "", "replace_id": "" }, "HP:0012411": { "name": [ "premature pubarche", "premature pubarche" ], "alt_id": [], "def": "The onset of growth of pubic hair at an earlier age than normal.", "synonym": [ [ "premature pubic hair growth", "premature pubic hair growth" ] ], "xref": [ "SNOMEDCT_US:237815000", "UMLS:C0342541" ], "is_a": [ "HP:0000826" ], "is_obsolete": "", "replace_id": "" }, "HP:0012412": { "name": [ "premature adrenarche", "premature adrenarche" ], "alt_id": [], "def": "Onset of adrenarche at an earlier age than usual.", "synonym": [], "xref": [ "SNOMEDCT_US:103021001", "UMLS:C0342546" ], "is_a": [ "HP:0100000" ], "is_obsolete": "", "replace_id": "" }, "HP:0012413": { "name": [ "notched primary central incisor", "notched primary central incisor" ], "alt_id": [], "def": "The presence of a V-shaped indentation (notch) in the primary central incisor.", "synonym": [ [ "notched front baby tooth", "notch front baby tooth" ], [ "notched front deciduous tooth", "notch front deciduous tooth" ], [ "notched front primary tooth", "notch front primary tooth" ], [ "syphilitic primary incisor", "syphilitic primary incisor" ] ], "xref": [ "MSH:D013590", "SNOMEDCT_US:410500004", "SNOMEDCT_US:86443005", "UMLS:C0020186", "UMLS:C1444627", "UMLS:C4022912" ], "is_a": [ "HP:0011063" ], "is_obsolete": "", "replace_id": "" }, "HP:0012414": { "name": [ "duodenal atrophy", "duodenal atrophy" ], "alt_id": [], "def": "Wasting or decrease in size of all or part of the duodenum.", "synonym": [], "xref": [ "UMLS:C4022911" ], "is_a": [ "HP:0002246" ], "is_obsolete": "", "replace_id": "" }, "HP:0012415": { "name": [ "abnormal blood gas level", "abnormal blood gas level" ], "alt_id": [], "def": "An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.", "synonym": [ [ "abnormal blood gas level", "abnormal blood gas level" ] ], "xref": [ "SNOMEDCT_US:312391003", "UMLS:C0476337" ], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0012416": { "name": [ "hypercapnia", "hypercapnia" ], "alt_id": [], "def": "Abnormally elevated blood carbon dioxide (CO2) level.", "synonym": [ [ "high blood carbon dioxide level", "high blood carbon dioxide level" ], [ "hypercarbia", "hypercarbia" ] ], "xref": [ "MSH:D006935", "SNOMEDCT_US:29596007", "UMLS:C0020440" ], "is_a": [ "HP:0500164" ], "is_obsolete": "", "replace_id": "" }, "HP:0012417": { "name": [ "hypocapnia", "hypocapnia" ], "alt_id": [], "def": "Abnormally reduced blood carbon dioxide (CO2) level.", "synonym": [ [ "hypocarbia", "hypocarbia" ], [ "reduced carbon dioxide in the blood", "reduce carbon dioxide in the blood" ] ], "xref": [ "MSH:D016857", "SNOMEDCT_US:61031008", "UMLS:C0085383" ], "is_a": [ "HP:0500164" ], "is_obsolete": "", "replace_id": "" }, "HP:0012418": { "name": [ "hypoxemia", "hypoxemia" ], "alt_id": [], "def": "An abnormally low level of blood oxygen.", "synonym": [ [ "hypoxia", "hypoxia" ], [ "low blood oxygen level", "low blood oxygen level" ] ], "xref": [ "MSH:D000860", "SNOMEDCT_US:389087006", "UMLS:C0700292" ], "is_a": [ "HP:0500165" ], "is_obsolete": "", "replace_id": "" }, "HP:0012419": { "name": [ "hyperoxemia", "hyperoxemia" ], "alt_id": [], "def": "An abnormally high level of blood oxygen.", "synonym": [], "xref": [ "UMLS:C4022910" ], "is_a": [ "HP:0500165" ], "is_obsolete": "", "replace_id": "" }, "HP:0012420": { "name": [ "meconium stained amniotic fluid", "meconium stain amniotic fluid" ], "alt_id": [], "def": "Amniotic fluid containing the earliest stools of a mammalian infant.", "synonym": [ [ "meconium staining of amniotic fluid", "meconium staining of amniotic fluid" ], [ "meconium - stained amniotic fluid", "meconium - stain amniotic fluid" ] ], "xref": [ "SNOMEDCT_US:168092006", "SNOMEDCT_US:249135009", "UMLS:C0426209" ], "is_a": [ "HP:0001560" ], "is_obsolete": "", "replace_id": "" }, "HP:0012421": { "name": [ "congenital absence of foreskin", "congenital absence of foreskin" ], "alt_id": [], "def": "Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis.", "synonym": [ [ "absent foreskin", "absent foreskin" ], [ "aposthia", "aposthia" ] ], "xref": [ "SNOMEDCT_US:300519001", "UMLS:C0577242" ], "is_a": [ "HP:0100587" ], "is_obsolete": "", "replace_id": "" }, "HP:0012422": { "name": [ "villous hypertrophy of choroid plexus", "villous hypertrophy of choroid plexus" ], "alt_id": [], "def": "Overgrowth of the choroid plexus.", "synonym": [ [ "choroid plexus hypertrophy", "choroid plexus hypertrophy" ], [ "diffuse villous hypertrophy of choroid plexus", "diffuse villous hypertrophy of choroid plexus" ] ], "xref": [ "UMLS:C4020728", "UMLS:C4021089" ], "is_a": [ "HP:0007376" ], "is_obsolete": "", "replace_id": "" }, "HP:0012423": { "name": [ "colonic inertia", "colonic inertia" ], "alt_id": [], "def": "The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days.", "synonym": [], "xref": [ "MSH:D003248", "UMLS:C1257861" ], "is_a": [ "HP:0012700" ], "is_obsolete": "", "replace_id": "" }, "HP:0012424": { "name": [ "chorioretinitis", "chorioretinitis" ], "alt_id": [], "def": "An inflammation of the choroid and retina.", "synonym": [], "xref": [ "MSH:D002825", "SNOMEDCT_US:46627006", "UMLS:C0008513" ], "is_a": [ "HP:0000532" ], "is_obsolete": "", "replace_id": "" }, "HP:0012425": { "name": [ "stercoral ulcer", "stercoral ulcer" ], "alt_id": [], "def": "An ulcer of the colon due to pressure and irritation from retained fecal masses.", "synonym": [ [ "colon ulcer", "colon ulcer" ], [ "recto - sigmoid colon stercoral ulcer", "recto - sigmoid colon stercoral ulcer" ] ], "xref": [ "SNOMEDCT_US:235766003", "SNOMEDCT_US:38084005", "SNOMEDCT_US:46040000", "UMLS:C0267491", "UMLS:C0333302" ], "is_a": [ "HP:0002250" ], "is_obsolete": "", "replace_id": "" }, "HP:0012426": { "name": [ "optic disc drusen", "optic disc drusen" ], "alt_id": [], "def": "Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.", "synonym": [ [ "optic nerve head drusen", "optic nerve head drusen" ] ], "xref": [ "MSH:D015594", "SNOMEDCT_US:33629003", "UMLS:C0029128" ], "is_a": [ "HP:0011510", "HP:0012795" ], "is_obsolete": "", "replace_id": "" }, "HP:0012427": { "name": [ "excessive femoral anteversion", "excessive femoral anteversion" ], "alt_id": [], "def": "An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward.", "synonym": [], "xref": [ "UMLS:C4022909" ], "is_a": [ "HP:0002823" ], "is_obsolete": "", "replace_id": "" }, "HP:0012428": { "name": [ "prominent calcaneus", "prominent calcaneus" ], "alt_id": [], "def": "Protruding heel bone, or calcaneus.", "synonym": [ [ "prominent heel bone", "prominent heel bone" ] ], "xref": [ "UMLS:C4021088" ], "is_a": [ "HP:0008364" ], "is_obsolete": "", "replace_id": "" }, "HP:0012429": { "name": [ "aplasia / hypoplasia of the cerebral white matter", "aplasia / hypoplasia of the cerebral white matter" ], "alt_id": [], "def": "Absence or underdevelopment of the cerebral white matter.", "synonym": [ [ "absent / small cerebral white matter", "absent / small cerebral white matter" ], [ "absent / underdeveloped cerebral white matter", "absent / underdeveloped cerebral white matter" ] ], "xref": [ "UMLS:C4021844" ], "is_a": [ "HP:0002500" ], "is_obsolete": "", "replace_id": "" }, "HP:0012430": { "name": [ "cerebral white matter hypoplasia", "cerebral white matter hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the cerebral white matter.", "synonym": [ [ "paucity of cerebral white matter", "paucity of cerebral white matter" ] ], "xref": [ "UMLS:C4020727", "UMLS:C4022908" ], "is_a": [ "HP:0012429" ], "is_obsolete": "", "replace_id": "" }, "HP:0012431": { "name": [ "episodic fatigue", "episodic fatigue" ], "alt_id": [], "def": "Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.", "synonym": [], "xref": [ "UMLS:C4022907" ], "is_a": [ "HP:0012378" ], "is_obsolete": "", "replace_id": "" }, "HP:0012432": { "name": [ "chronic fatigue", "chronic fatigue" ], "alt_id": [], "def": "Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.", "synonym": [ [ "chronic extreme exhaustion", "chronic extreme exhaustion" ], [ "chronic fatigue", "chronic fatigue" ] ], "xref": [ "UMLS:C0518656" ], "is_a": [ "HP:0012378" ], "is_obsolete": "", "replace_id": "" }, "HP:0012433": { "name": [ "abnormal social behavior", "abnormal social behavior" ], "alt_id": [], "def": "An abnormality of actions or reactions of a person taking place during interactions with others.", "synonym": [ [ "abnormal social behavior", "abnormal social behavior" ], [ "abnormal social behaviour", "abnormal social behaviour" ], [ "abnormal social interactions", "abnormal social interaction" ] ], "xref": [ "UMLS:C4020726", "UMLS:C4021087" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0012434": { "name": [ "delayed social development", "delay social development" ], "alt_id": [], "def": "A failure to meet one or more age-related milestones of social behavior.", "synonym": [ [ "delayed social development", "delay social development" ] ], "xref": [ "UMLS:C4022906" ], "is_a": [ "HP:0012433", "HP:0012758" ], "is_obsolete": "", "replace_id": "" }, "HP:0012435": { "name": [ "ventral shortening of foreskin", "ventral shortening of foreskin" ], "alt_id": [], "def": "Reduction in length of the ventral (lower) skin of prepuce of penis.", "synonym": [], "xref": [ "UMLS:C4022905" ], "is_a": [ "HP:0100587" ], "is_obsolete": "", "replace_id": "" }, "HP:0012436": { "name": [ "nonocclusive coronary artery atherosclerosis", "nonocclusive coronary artery atherosclerosis" ], "alt_id": [], "def": "Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.", "synonym": [ [ "non - occlusive coronary artery disease", "non - occlusive coronary artery disease" ], [ "non - occlusive coronary artery stenosis", "non - occlusive coronary artery stenosis" ], [ "nonocclusive coronary artery disease", "nonocclusive coronary artery disease" ], [ "nonocclusive coronary artery stenosis", "nonocclusive coronary artery stenosis" ] ], "xref": [ "UMLS:C4020724", "UMLS:C4020725" ], "is_a": [ "HP:0001677" ], "is_obsolete": "", "replace_id": "" }, "HP:0012437": { "name": [ "abnormal gallbladder morphology", "abnormal gallbladder morphology" ], "alt_id": [], "def": "A structural anomaly of the gallbladder.", "synonym": [ [ "abnormal gallbladder structure", "abnormal gallbladder structure" ], [ "abnormal shape of gallbladder", "abnormal shape of gallbladder" ] ], "xref": [ "UMLS:C4022904" ], "is_a": [ "HP:0005264" ], "is_obsolete": "", "replace_id": "" }, "HP:0012438": { "name": [ "abnormal gallbladder physiology", "abnormal gallbladder physiology" ], "alt_id": [], "def": "A functional anomaly of the gallbladder.", "synonym": [], "xref": [ "UMLS:C4022903" ], "is_a": [ "HP:0005264" ], "is_obsolete": "", "replace_id": "" }, "HP:0012439": { "name": [ "abnormal biliary tract physiology", "abnormal biliary tract physiology" ], "alt_id": [], "def": "A functional abnormality of the biliary tree.", "synonym": [], "xref": [ "UMLS:C4022902" ], "is_a": [ "HP:0001080" ], "is_obsolete": "", "replace_id": "" }, "HP:0012440": { "name": [ "abnormal biliary tract morphology", "abnormal biliary tract morphology" ], "alt_id": [], "def": "A structural abnormality of the biliary tree.", "synonym": [ [ "anomaly of the biliary tract", "anomaly of the biliary tract" ] ], "xref": [ "UMLS:C4021086" ], "is_a": [ "HP:0001080" ], "is_obsolete": "", "replace_id": "" }, "HP:0012441": { "name": [ "sphincter of oddi dyskinesia", "sphincter of oddi dyskinesia" ], "alt_id": [], "def": "Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.", "synonym": [ [ "sphincter of oddi dysfunction", "sphincter of oddi dysfunction" ] ], "xref": [ "MSH:D046628", "SNOMEDCT_US:430887001", "UMLS:C0878588", "UMLS:C4048750" ], "is_a": [ "HP:0012396" ], "is_obsolete": "", "replace_id": "" }, "HP:0012442": { "name": [ "gallbladder dyskinesia", "gallbladder dyskinesia" ], "alt_id": [], "def": "Reduced motility of the gallbladder with reduced emptying fraction.", "synonym": [], "xref": [ "MSH:D001657", "UMLS:C1449631" ], "is_a": [ "HP:0012396" ], "is_obsolete": "", "replace_id": "" }, "HP:0012443": { "name": [ "abnormality of brain morphology", "abnormality of brain morphology" ], "alt_id": [], "def": "A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.", "synonym": [ [ "abnormal shape of brain", "abnormal shape of brain" ], [ "abnormality of the brain", "abnormality of the brain" ] ], "xref": [ "UMLS:C4021085" ], "is_a": [ "HP:0002011" ], "is_obsolete": "", "replace_id": "" }, "HP:0012444": { "name": [ "brain atrophy", "brain atrophy" ], "alt_id": [], "def": "Partial or complete wasting (loss) of brain tissue that was once present.", "synonym": [ [ "brain degeneration", "brain degeneration" ], [ "brain wasting", "brain wasting" ] ], "xref": [ "SNOMEDCT_US:278849000", "SNOMEDCT_US:418143002", "SNOMEDCT_US:52522001", "UMLS:C0154671", "UMLS:C0235946" ], "is_a": [ "HP:0007367", "HP:0012443" ], "is_obsolete": "", "replace_id": "" }, "HP:0012446": { "name": [ "decreased csf 5 - methyltetrahydrofolate concentration", "decrease csf 5 - methyltetrahydrofolate concentration" ], "alt_id": [ "HP:0012336" ], "def": "A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.", "synonym": [ [ "cerebral folate deficiency", "cerebral folate deficiency" ], [ "low csf 5 - methyltetrahydrofolate", "low csf 5 - methyltetrahydrofolate" ], [ "reduced csf 5 - methyltetrahydrofolate concentration", "reduce csf 5 - methyltetrahydrofolate concentration" ] ], "xref": [ "MSH:C567791", "SNOMEDCT_US:711403001", "UMLS:C2751584", "UMLS:C4022901" ], "is_a": [ "HP:0012335", "HP:0025454" ], "is_obsolete": "", "replace_id": "" }, "HP:0012447": { "name": [ "abnormal myelination", "abnormal myelination" ], "alt_id": [], "def": "Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.", "synonym": [], "xref": [ "UMLS:C1857704" ], "is_a": [ "HP:0012639" ], "is_obsolete": "", "replace_id": "" }, "HP:0012448": { "name": [ "delayed myelination", "delay myelination" ], "alt_id": [], "def": "Delayed myelination.", "synonym": [], "xref": [ "SNOMEDCT_US:135810007", "UMLS:C1277241" ], "is_a": [ "HP:0012447" ], "is_obsolete": "", "replace_id": "" }, "HP:0012449": { "name": [ "sacroiliac joint synovitis", "sacroiliac joint synovitis" ], "alt_id": [], "def": "Inflammation of the synovial membrane of the sacroiliac joint.", "synonym": [], "xref": [ "UMLS:C4022900" ], "is_a": [ "HP:0100781" ], "is_obsolete": "", "replace_id": "" }, "HP:0012450": { "name": [ "chronic constipation", "chronic constipation" ], "alt_id": [], "def": "Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.", "synonym": [ [ "chronic constipation", "chronic constipation" ], [ "infrequent bowel movements", "infrequent bowel movement" ] ], "xref": [ "SNOMEDCT_US:236069009", "UMLS:C0401149" ], "is_a": [ "HP:0002019" ], "is_obsolete": "", "replace_id": "" }, "HP:0012451": { "name": [ "acute constipation", "acute constipation" ], "alt_id": [], "def": "Constipation of sudden onset and lasting for less than three months.", "synonym": [], "xref": [ "SNOMEDCT_US:197119006", "UMLS:C0401148" ], "is_a": [ "HP:0002019" ], "is_obsolete": "", "replace_id": "" }, "HP:0012452": { "name": [ "restless legs", "restless leg" ], "alt_id": [], "def": "A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia).", "synonym": [ [ "restless legs syndrome", "restless legs syndrome" ], [ "willis - ekbom disease", "willis - ekbom disease" ], [ "wittmaack - ekbom syndrome", "wittmaack - ekbom syndrome" ] ], "xref": [ "MSH:D012148", "SNOMEDCT_US:32914008", "UMLS:C0035258" ], "is_a": [ "HP:0002360" ], "is_obsolete": "", "replace_id": "" }, "HP:0012453": { "name": [ "bilateral wrist flexion contracture", "bilateral wrist flexion contracture" ], "alt_id": [], "def": "A chronic loss of wrist joint motion on the right and left sides.", "synonym": [ [ "bilateral wrist contracture", "bilateral wrist contracture" ] ], "xref": [ "UMLS:C4020723", "UMLS:C4022899" ], "is_a": [ "HP:0001239" ], "is_obsolete": "", "replace_id": "" }, "HP:0012454": { "name": [ "unilateral wrist flexion contracture", "unilateral wrist flexion contracture" ], "alt_id": [], "def": "A chronic loss of wrist joint motion on one side only.", "synonym": [ [ "unilateral wrist contracture", "unilateral wrist contracture" ] ], "xref": [ "UMLS:C4020722", "UMLS:C4022898" ], "is_a": [ "HP:0001239" ], "is_obsolete": "", "replace_id": "" }, "HP:0012455": { "name": [ "obsolete large artery calcification", "obsolete large artery calcification" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0003207" }, "HP:0012456": { "name": [ "medial arterial calcification", "medial arterial calcification" ], "alt_id": [], "def": "Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries.", "synonym": [], "xref": [ "UMLS:C4022896" ], "is_a": [ "HP:0003207" ], "is_obsolete": "", "replace_id": "" }, "HP:0012457": { "name": [ "medial calcification of medium - sized arteries", "medial calcification of medium - sized artery" ], "alt_id": [], "def": "Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.", "synonym": [], "xref": [ "UMLS:C4022895" ], "is_a": [ "HP:0012456" ], "is_obsolete": "", "replace_id": "" }, "HP:0012458": { "name": [ "medial calcification of small arteries", "medial calcification of small artery" ], "alt_id": [], "def": "Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries.", "synonym": [], "xref": [ "UMLS:C4022894" ], "is_a": [ "HP:0012456" ], "is_obsolete": "", "replace_id": "" }, "HP:0012459": { "name": [ "hypnic headache", "hypnic headache" ], "alt_id": [], "def": "A headache disorder that occurs exclusively at night, waking the affected individual from sleep.", "synonym": [ [ "alarm clock headache", "alarm clock headache" ] ], "xref": [ "MSH:D051270", "SNOMEDCT_US:122711000119109", "UMLS:C0752150" ], "is_a": [ "HP:0002315" ], "is_obsolete": "", "replace_id": "" }, "HP:0012460": { "name": [ "dysmorphic inferior cerebellar vermis", "dysmorphic inferior cerebellar vermis" ], "alt_id": [], "def": "A structural anomaly of the inferior portion of the vermis of cerebellum.", "synonym": [], "xref": [ "UMLS:C4022893" ], "is_a": [ "HP:0002334" ], "is_obsolete": "", "replace_id": "" }, "HP:0012461": { "name": [ "bacteriuria", "bacteriuria" ], "alt_id": [], "def": "The presence of bacteria in the urine.", "synonym": [ [ "bacteria in urine", "bacteria in urine" ], [ "high urine bacteria", "high urine bacteria" ] ], "xref": [ "MSH:D001437", "SNOMEDCT_US:61373006", "UMLS:C0004659" ], "is_a": [ "HP:0003110" ], "is_obsolete": "", "replace_id": "" }, "HP:0012462": { "name": [ "chin myoclonus", "chin myoclonus" ], "alt_id": [], "def": "Involuntary and irregular twitches of the chin.", "synonym": [ [ "chin spasms", "chin spasm" ], [ "geniospasm", "geniospasm" ] ], "xref": [ "MSH:C537682", "UMLS:C1860972" ], "is_a": [ "HP:0001336" ], "is_obsolete": "", "replace_id": "" }, "HP:0012463": { "name": [ "elevated transferrin saturation", "elevate transferrin saturation" ], "alt_id": [], "def": "An above normal level of saturation of serum transferrin with iron.", "synonym": [], "xref": [ "UMLS:C4022892" ], "is_a": [ "HP:0040135" ], "is_obsolete": "", "replace_id": "" }, "HP:0012464": { "name": [ "decreased transferrin saturation", "decrease transferrin saturation" ], "alt_id": [], "def": "A below normal level of saturation of serum transferrin with iron.", "synonym": [], "xref": [ "UMLS:C0919785" ], "is_a": [ "HP:0040135" ], "is_obsolete": "", "replace_id": "" }, "HP:0012465": { "name": [ "elevated hepatic iron concentration", "elevate hepatic iron concentration" ], "alt_id": [], "def": "An increased level of iron in liver tissues.", "synonym": [ [ "increased iron concentration in liver", "increase iron concentration in liver" ], [ "increased liver iron level", "increase liver iron level" ] ], "xref": [ "UMLS:C4022891" ], "is_a": [ "HP:0040134" ], "is_obsolete": "", "replace_id": "" }, "HP:0012466": { "name": [ "chronic respiratory acidosis", "chronic respiratory acidosis" ], "alt_id": [], "def": "Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L).", "synonym": [], "xref": [ "SNOMEDCT_US:8764008", "UMLS:C0268048" ], "is_a": [ "HP:0005972", "HP:0012468" ], "is_obsolete": "", "replace_id": "" }, "HP:0012467": { "name": [ "acute respiratory acidosis", "acute respiratory acidosis" ], "alt_id": [], "def": "Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35).", "synonym": [], "xref": [ "SNOMEDCT_US:70644008", "UMLS:C0268047" ], "is_a": [ "HP:0005972" ], "is_obsolete": "", "replace_id": "" }, "HP:0012468": { "name": [ "chronic acidosis", "chronic acidosis" ], "alt_id": [], "def": "Longstanding abnormal acid accumulation or depletion of base.", "synonym": [], "xref": [ "UMLS:C1735903" ], "is_a": [ "HP:0001941" ], "is_obsolete": "", "replace_id": "" }, "HP:0012469": { "name": [ "infantile spasms", "infantile spasm" ], "alt_id": [], "def": "Infantile spasms represent a subset of \\\"epileptic spasms\\\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).", "synonym": [], "xref": [ "UMLS:C3887898" ], "is_a": [ "HP:0011097" ], "is_obsolete": "", "replace_id": "" }, "HP:0012470": { "name": [ "setting - sun eye phenomenon", "set - sun eye phenomenon" ], "alt_id": [], "def": "An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid.", "synonym": [ [ "eyes fixed downward", "eye fix downward" ], [ "setting - sun eye phenomenon", "set - sun eye phenomenon" ], [ "sun setting eyes", "sun set eye" ], [ "sunsetting eye", "sunsetting eye" ] ], "xref": [ "SNOMEDCT_US:63342001", "UMLS:C0423128", "UMLS:C4020721" ], "is_a": [ "HP:0000597" ], "is_obsolete": "", "replace_id": "" }, "HP:0012471": { "name": [ "thick vermilion border", "thick vermilion border" ], "alt_id": [], "def": "Increased width of the skin of vermilion border region of upper lip.", "synonym": [ [ "full lips", "full lip" ], [ "increased volume of lip", "increased volume of lip" ], [ "increased volume of lip vermillion", "increased volume of lip vermillion" ], [ "plump lips", "plump lip" ], [ "prominent lips", "prominent lip" ], [ "thick lips", "thick lip" ] ], "xref": [ "UMLS:C1836543" ], "is_a": [ "HP:0000159" ], "is_obsolete": "", "replace_id": "" }, "HP:0012472": { "name": [ "eclabion", "eclabion" ], "alt_id": [], "def": "A turning outward of the lip or lips, that is, eversion of the lips.", "synonym": [ [ "eclabium", "eclabium" ], [ "everted lips", "evert lip" ], [ "outward turned lips", "outward turn lip" ] ], "xref": [ "UMLS:C3550430" ], "is_a": [ "HP:0000159" ], "is_obsolete": "", "replace_id": "" }, "HP:0012473": { "name": [ "tongue atrophy", "tongue atrophy" ], "alt_id": [], "def": "Wasting of the tongue.", "synonym": [ [ "atrophy of the tongue", "atrophy of the tongue" ], [ "lingual atrophy", "lingual atrophy" ], [ "lingual wasting", "lingual wasting" ], [ "wasting of the tongue", "wasting of the tongue" ] ], "xref": [ "SNOMEDCT_US:249382006", "SNOMEDCT_US:50805004", "UMLS:C0241423", "UMLS:C0426494" ], "is_a": [ "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0012474": { "name": [ "carotid artery occlusion", "carotid artery occlusion" ], "alt_id": [], "def": "Complete obstruction of a carotid artery.", "synonym": [ [ "obstructed carotid artery", "obstruct carotid artery" ] ], "xref": [ "SNOMEDCT_US:266254007", "SNOMEDCT_US:69798007", "UMLS:C0265101" ], "is_a": [ "HP:0005344" ], "is_obsolete": "", "replace_id": "" }, "HP:0012475": { "name": [ "decreased circulating level of specific antibody", "decrease circulate level of specific antibody" ], "alt_id": [], "def": "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism.", "synonym": [ [ "abnormal specific antibody response", "abnormal specific antibody response" ], [ "decreased specific antibody in blood", "decrease specific antibody in blood" ], [ "specific antibody deficiency", "specific antibody deficiency" ] ], "xref": [ "SNOMEDCT_US:234556002", "UMLS:C0398711" ], "is_a": [ "HP:0004313", "HP:0031404" ], "is_obsolete": "", "replace_id": "" }, "HP:0012476": { "name": [ "decreased specific pneumococcal antibody level", "decrease specific pneumococcal antibody level" ], "alt_id": [], "def": "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.", "synonym": [ [ "low pneumococcal antibody titer", "low pneumococcal antibody titer" ], [ "specific pneumococcal antibody deficiency", "specific pneumococcal antibody deficiency" ] ], "xref": [ "UMLS:C4022890" ], "is_a": [ "HP:0012475" ], "is_obsolete": "", "replace_id": "" }, "HP:0012477": { "name": [ "vocal tremor", "vocal tremor" ], "alt_id": [], "def": "A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.", "synonym": [ [ "shakey voice", "shakey voice" ], [ "vocal tremor", "vocal tremor" ] ], "xref": [ "UMLS:C4022889" ], "is_a": [ "HP:0002345" ], "is_obsolete": "", "replace_id": "" }, "HP:0012478": { "name": [ "temporomandibular joint ankylosis", "temporomandibular joint ankylosis" ], "alt_id": [], "def": "Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.", "synonym": [ [ "adhesion of the temporomandibular joint", "adhesion of the temporomandibular joint" ], [ "ankylosis of temporomandibular joint", "ankylosis of temporomandibular joint" ], [ "freezing of jaw joint", "freezing of jaw joint" ], [ "freezing of the temporomandibular joint", "freezing of the temporomandibular joint" ], [ "rigidity of the temporomandibular joint", "rigidity of the temporomandibular joint" ], [ "temporomandibular joint fusion", "temporomandibular joint fusion" ] ], "xref": [ "MSH:C536957", "SNOMEDCT_US:298231004", "SNOMEDCT_US:50603008", "SNOMEDCT_US:91866004", "UMLS:C0575010", "UMLS:C0685924", "UMLS:C2931375" ], "is_a": [ "HP:0010754" ], "is_obsolete": "", "replace_id": "" }, "HP:0012479": { "name": [ "temporomandibular joint crepitus", "temporomandibular joint crepitus" ], "alt_id": [], "def": "Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound.", "synonym": [ [ "jaw joint clicking sound", "jaw joint click sound" ], [ "jaw joint crepitus", "jaw joint crepitus" ], [ "jaw joint grating sound", "jaw joint grate sound" ], [ "jaw joint noise", "jaw joint noise" ], [ "jaw joint popping sound", "jaw joint pop sound" ], [ "jaw joint sounds", "jaw joint sound" ], [ "temporomandibular joint clicking sound", "temporomandibular joint click sound" ], [ "temporomandibular joint grating sound", "temporomandibular joint grate sound" ], [ "temporomandibular joint noise", "temporomandibular joint noise" ], [ "temporomandibular joint popping sound", "temporomandibular joint pop sound" ], [ "temporomandibular joint sounds", "temporomandibular joint sound" ] ], "xref": [ "SNOMEDCT_US:298377005", "UMLS:C0575154", "UMLS:C4280313", "UMLS:C4280314", "UMLS:C4280315" ], "is_a": [ "HP:0010754" ], "is_obsolete": "", "replace_id": "" }, "HP:0012480": { "name": [ "abnormal cerebral vein morphology", "abnormal cerebral vein morphology" ], "alt_id": [], "def": "An anomaly of cerebral veins.", "synonym": [ [ "abnormality of cerebral veins", "abnormality of cerebral vein" ] ], "xref": [ "UMLS:C4022888" ], "is_a": [ "HP:0100659" ], "is_obsolete": "", "replace_id": "" }, "HP:0012481": { "name": [ "cerebral venous angioma", "cerebral venous angioma" ], "alt_id": [], "def": "A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.", "synonym": [ [ "developmental venous anomaly", "developmental venous anomaly" ] ], "xref": [ "MSH:D020787", "UMLS:C1956261" ], "is_a": [ "HP:0012480" ], "is_obsolete": "", "replace_id": "" }, "HP:0012482": { "name": [ "frontal venous angioma", "frontal venous angioma" ], "alt_id": [], "def": "A venous angioma of the frontal lobe of the brain.", "synonym": [], "xref": [ "UMLS:C4022887" ], "is_a": [ "HP:0012481" ], "is_obsolete": "", "replace_id": "" }, "HP:0012483": { "name": [ "abnormal alpha granules", "abnormal alpha granule" ], "alt_id": [], "def": "Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury.", "synonym": [], "xref": [ "UMLS:C4022886" ], "is_a": [ "HP:0011883" ], "is_obsolete": "", "replace_id": "" }, "HP:0012484": { "name": [ "abnormal dense granules", "abnormal dense granule" ], "alt_id": [], "def": "Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin.", "synonym": [], "xref": [ "UMLS:C4022885" ], "is_a": [ "HP:0011883" ], "is_obsolete": "", "replace_id": "" }, "HP:0012485": { "name": [ "abnormal surface - connected open canalicular system", "abnormal surface - connect open canalicular system" ], "alt_id": [], "def": "An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction.", "synonym": [], "xref": [ "UMLS:C4021840" ], "is_a": [ "HP:0011875" ], "is_obsolete": "", "replace_id": "" }, "HP:0012486": { "name": [ "myelitis", "myelitis" ], "alt_id": [], "def": "Inflammation of the spinal cord.", "synonym": [ [ "inflammation of spinal cord", "inflammation of spinal cord" ] ], "xref": [ "MSH:D009187", "SNOMEDCT_US:41370002", "UMLS:C0026975" ], "is_a": [ "HP:0002143", "HP:0033429" ], "is_obsolete": "", "replace_id": "" }, "HP:0012487": { "name": [ "cerebellopontine angle arachnoid cyst", "cerebellopontine angle arachnoid cyst" ], "alt_id": [], "def": "An arachnoid cyst located at the margin of the cerebellum and pons.", "synonym": [], "xref": [ "UMLS:C4022884" ], "is_a": [ "HP:0007291", "HP:0100702" ], "is_obsolete": "", "replace_id": "" }, "HP:0012488": { "name": [ "intraventricular arachnoid cyst", "intraventricular arachnoid cyst" ], "alt_id": [], "def": "An arachnoid cyst located within the ventricular system.", "synonym": [], "xref": [ "UMLS:C4022883" ], "is_a": [ "HP:0010576", "HP:0100702" ], "is_obsolete": "", "replace_id": "" }, "HP:0012489": { "name": [ "suprasellar arachnoid cyst", "suprasellar arachnoid cyst" ], "alt_id": [], "def": "An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards.", "synonym": [], "xref": [ "UMLS:C4022882" ], "is_a": [ "HP:0010576", "HP:0100702" ], "is_obsolete": "", "replace_id": "" }, "HP:0012490": { "name": [ "panniculitis", "panniculitis" ], "alt_id": [], "def": "Inflammation of adipose tissue.", "synonym": [ [ "inflammation of adipose tissue", "inflammation of adipose tissue" ], [ "inflammation of fat tissue", "inflammation of fat tissue" ] ], "xref": [ "MSH:D015434", "SNOMEDCT_US:22125009", "UMLS:C0030326" ], "is_a": [ "HP:0009124", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0012491": { "name": [ "abnormal dense tubular system", "abnormal dense tubular system" ], "alt_id": [], "def": "An anomaly of the intracellular membrane complexes known as the dense tubular system.", "synonym": [], "xref": [ "UMLS:C4022881" ], "is_a": [ "HP:0011875" ], "is_obsolete": "", "replace_id": "" }, "HP:0012492": { "name": [ "cerebral artery stenosis", "cerebral artery stenosis" ], "alt_id": [], "def": "Narrowing or constriction of the inner surface (lumen) of a cerebral artery.", "synonym": [ [ "narrowing of a cerebral artery", "narrowing of a cerebral artery" ] ], "xref": [ "UMLS:C1504438" ], "is_a": [ "HP:0009145" ], "is_obsolete": "", "replace_id": "" }, "HP:0012493": { "name": [ "middle cerebral artery stenosis", "middle cerebral artery stenosis" ], "alt_id": [], "def": "Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery.", "synonym": [], "xref": [ "SNOMEDCT_US:21290001000004104", "UMLS:C1504568" ], "is_a": [ "HP:0012492" ], "is_obsolete": "", "replace_id": "" }, "HP:0012494": { "name": [ "anterior cerebral artery stenosis", "anterior cerebral artery stenosis" ], "alt_id": [], "def": "Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery.", "synonym": [], "xref": [ "UMLS:C1504567" ], "is_a": [ "HP:0012492" ], "is_obsolete": "", "replace_id": "" }, "HP:0012495": { "name": [ "posterior cerebral artery stenosis", "posterior cerebral artery stenosis" ], "alt_id": [], "def": "Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery.", "synonym": [], "xref": [ "UMLS:C1504569" ], "is_a": [ "HP:0012492" ], "is_obsolete": "", "replace_id": "" }, "HP:0012496": { "name": [ "reduced maximal inspiratory pressure", "reduce maximal inspiratory pressure" ], "alt_id": [], "def": "A decrease in the maximum amount of negative pressure a person can generate during an inhalation.", "synonym": [], "xref": [ "UMLS:C4022880" ], "is_a": [ "HP:0004347" ], "is_obsolete": "", "replace_id": "" }, "HP:0012497": { "name": [ "reduced maximal expiratory pressure", "reduce maximal expiratory pressure" ], "alt_id": [], "def": "A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.", "synonym": [], "xref": [ "UMLS:C4022879" ], "is_a": [ "HP:0004347" ], "is_obsolete": "", "replace_id": "" }, "HP:0012498": { "name": [ "nuchal cord", "nuchal cord" ], "alt_id": [], "def": "A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.", "synonym": [], "xref": [ "MSH:D053589", "SNOMEDCT_US:302929008", "UMLS:C0405124" ], "is_a": [ "HP:0001787" ], "is_obsolete": "", "replace_id": "" }, "HP:0012499": { "name": [ "descending aortic dissection", "descend aortic dissection" ], "alt_id": [], "def": "A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.", "synonym": [ [ "type b aortic dissection", "type b aortic dissection" ] ], "xref": [ "UMLS:C4022878" ], "is_a": [ "HP:0002647" ], "is_obsolete": "", "replace_id": "" }, "HP:0012500": { "name": [ "verrucous papule", "verrucous papule" ], "alt_id": [], "def": "A wartlike (with multiple small elevated projections) papule.", "synonym": [ [ "papillomatous papule", "papillomatous papule" ] ], "xref": [ "UMLS:C4022877" ], "is_a": [ "HP:0200034" ], "is_obsolete": "", "replace_id": "" }, "HP:0012501": { "name": [ "abnormality of the brainstem white matter", "abnormality of the brainstem white matter" ], "alt_id": [], "def": "An anomaly of the white matter of brainstem.", "synonym": [], "xref": [ "UMLS:C4022876" ], "is_a": [ "HP:0002363" ], "is_obsolete": "", "replace_id": "" }, "HP:0012502": { "name": [ "abnormality of the internal capsule", "abnormality of the internal capsule" ], "alt_id": [], "def": "An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus.", "synonym": [], "xref": [ "UMLS:C4022875" ], "is_a": [ "HP:0002500" ], "is_obsolete": "", "replace_id": "" }, "HP:0012503": { "name": [ "abnormality of the pituitary gland", "abnormality of the pituitary gland" ], "alt_id": [], "def": "An anomaly of the pituitary gland.", "synonym": [ [ "disorder of pituitary gland", "disorder of pituitary gland" ] ], "xref": [ "MSH:D010900", "SNOMEDCT_US:399244003", "UMLS:C0032002" ], "is_a": [ "HP:0000864", "HP:0012443" ], "is_obsolete": "", "replace_id": "" }, "HP:0012504": { "name": [ "abnormal size of pituitary gland", "abnormal size of pituitary gland" ], "alt_id": [], "def": "A deviation from the normal size of the pituitary gland.", "synonym": [], "xref": [ "UMLS:C4022874" ], "is_a": [ "HP:0012503" ], "is_obsolete": "", "replace_id": "" }, "HP:0012505": { "name": [ "enlarged pituitary gland", "enlarge pituitary gland" ], "alt_id": [], "def": "An abnormally increased size of the pituitary gland.", "synonym": [], "xref": [ "SNOMEDCT_US:237718009", "UMLS:C0342422" ], "is_a": [ "HP:0012504" ], "is_obsolete": "", "replace_id": "" }, "HP:0012506": { "name": [ "small pituitary gland", "small pituitary gland" ], "alt_id": [], "def": "An abnormally decreased size of the pituitary gland.", "synonym": [], "xref": [ "UMLS:C4022873" ], "is_a": [ "HP:0012504" ], "is_obsolete": "", "replace_id": "" }, "HP:0012507": { "name": [ "weakness of orbicularis oculi muscle", "weakness of orbicularis oculus muscle" ], "alt_id": [], "def": "Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid.", "synonym": [ [ "weakness of orbicularis oculi muscles", "weakness of orbicularis oculus muscle" ] ], "xref": [ "UMLS:C1839030" ], "is_a": [ "HP:0001324", "HP:0030319" ], "is_obsolete": "", "replace_id": "" }, "HP:0012508": { "name": [ "metamorphopsia", "metamorphopsia" ], "alt_id": [], "def": "A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.", "synonym": [], "xref": [ "MSH:D014786", "SNOMEDCT_US:42134006", "UMLS:C0271185" ], "is_a": [ "HP:0000504" ], "is_obsolete": "", "replace_id": "" }, "HP:0012509": { "name": [ "reduced thyroxin - binding globulin", "reduce thyroxin - binding globulin" ], "alt_id": [], "def": "An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream.", "synonym": [], "xref": [ "UMLS:C4022872" ], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0012510": { "name": [ "extra - axial cerebrospinal fluid accumulation", "extra - axial cerebrospinal fluid accumulation" ], "alt_id": [], "def": "An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.", "synonym": [ [ "extra - axial csf accumulation", "extra - axial csf accumulation" ] ], "xref": [ "UMLS:C4022871" ], "is_a": [ "HP:0002921" ], "is_obsolete": "", "replace_id": "" }, "HP:0012511": { "name": [ "temporal optic disc pallor", "temporal optic disc pallor" ], "alt_id": [], "def": "A pale yellow discoloration of the temporal (lateral) portion of the optic disc.", "synonym": [], "xref": [ "SNOMEDCT_US:247220006", "UMLS:C0344299" ], "is_a": [ "HP:0000543" ], "is_obsolete": "", "replace_id": "" }, "HP:0012512": { "name": [ "diffuse optic disc pallor", "diffuse optic disc pallor" ], "alt_id": [], "def": "A pale yellow discoloration of the entire optic disc.", "synonym": [], "xref": [ "UMLS:C4022870" ], "is_a": [ "HP:0000543" ], "is_obsolete": "", "replace_id": "" }, "HP:0012513": { "name": [ "upper limb pain", "upper limb pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm.", "synonym": [ [ "upper limb pain", "upper limb pain" ] ], "xref": [ "SNOMEDCT_US:102556003", "UMLS:C0239377" ], "is_a": [ "HP:0009763" ], "is_obsolete": "", "replace_id": "" }, "HP:0012514": { "name": [ "lower limb pain", "low limb pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.", "synonym": [ [ "leg pain", "leg pain" ], [ "lower limb pain", "low limb pain" ] ], "xref": [ "SNOMEDCT_US:10601006", "UMLS:C0023222" ], "is_a": [ "HP:0009763" ], "is_obsolete": "", "replace_id": "" }, "HP:0012515": { "name": [ "hip flexor weakness", "hip flexor weakness" ], "alt_id": [], "def": "Reduced ability to flex the femur, that is, to pull the knee upward.", "synonym": [], "xref": [ "UMLS:C3279725" ], "is_a": [ "HP:0003749" ], "is_obsolete": "", "replace_id": "" }, "HP:0012516": { "name": [ "tetralogy of fallot with pulmonary atresia", "tetralogy of fallot with pulmonary atresia" ], "alt_id": [], "def": "An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.", "synonym": [], "xref": [ "SNOMEDCT_US:253513005", "UMLS:C0344882" ], "is_a": [ "HP:0001636" ], "is_obsolete": "", "replace_id": "" }, "HP:0012517": { "name": [ "reduced catalase level", "reduced catalase level" ], "alt_id": [], "def": "An abnormally decreased amount of catalase level.", "synonym": [], "xref": [ "UMLS:C4022869" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0012518": { "name": [ "abnormal circle of willis morphology", "abnormal circle of willis morphology" ], "alt_id": [], "def": "An anomaly of the circle of Willis, also known as the cerebral arterial circle.", "synonym": [ [ "abnormality of the cerebral arterial circle", "abnormality of the cerebral arterial circle" ] ], "xref": [ "UMLS:C4022868" ], "is_a": [ "HP:0009145" ], "is_obsolete": "", "replace_id": "" }, "HP:0012519": { "name": [ "hypoplastic posterior communicating artery", "hypoplastic posterior communicate artery" ], "alt_id": [], "def": "Underdeveloped posterior communicating artery.", "synonym": [ [ "hypoplastic posterior communicating arteries", "hypoplastic posterior communicate artery" ] ], "xref": [ "UMLS:C4020720" ], "is_a": [ "HP:0031772" ], "is_obsolete": "", "replace_id": "" }, "HP:0012520": { "name": [ "dilation of virchow - robin spaces", "dilation of virchow - robin space" ], "alt_id": [], "def": "Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.", "synonym": [ [ "dilated cerebral perivascular spaces", "dilate cerebral perivascular space" ], [ "dilated virchow - robin spaces", "dilate virchow - robin space" ], [ "perivascular spaces", "perivascular space" ] ], "xref": [ "UMLS:C1853618", "UMLS:C4020719" ], "is_a": [ "HP:0100659" ], "is_obsolete": "", "replace_id": "" }, "HP:0012521": { "name": [ "optic nerve aplasia", "optic nerve aplasia" ], "alt_id": [], "def": "Congenital absence of the optic nerve.", "synonym": [ [ "absent optic nerve", "absent optic nerve" ], [ "aplastic optic nerve", "aplastic optic nerve" ] ], "xref": [ "UMLS:C4021084" ], "is_a": [ "HP:0008058" ], "is_obsolete": "", "replace_id": "" }, "HP:0012522": { "name": [ "spider hemangioma", "spider hemangioma" ], "alt_id": [], "def": "A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released.", "synonym": [], "xref": [ "UMLS:C4022867" ], "is_a": [ "HP:0100585" ], "is_obsolete": "", "replace_id": "" }, "HP:0012523": { "name": [ "oral aversion", "oral aversion" ], "alt_id": [], "def": "Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).", "synonym": [], "xref": [ "UMLS:C3665983" ], "is_a": [ "HP:0100738" ], "is_obsolete": "", "replace_id": "" }, "HP:0012524": { "name": [ "abnormal platelet shape", "abnormal platelet shape" ], "alt_id": [], "def": "A deviation from the normal discoid platelet shape.", "synonym": [], "xref": [ "UMLS:C4022866" ], "is_a": [ "HP:0011875" ], "is_obsolete": "", "replace_id": "" }, "HP:0012525": { "name": [ "abnormal alpha granule distribution", "abnormal alpha granule distribution" ], "alt_id": [], "def": "An anomalous location and arrangement of platelet alpha granules.", "synonym": [], "xref": [ "UMLS:C4022865" ], "is_a": [ "HP:0012483" ], "is_obsolete": "", "replace_id": "" }, "HP:0012526": { "name": [ "absence of alpha granules", "absence of alpha granule" ], "alt_id": [], "def": "A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears.", "synonym": [ [ "gray platelets", "gray platelet" ], [ "grey platelets", "grey platelet" ] ], "xref": [ "UMLS:C4022864" ], "is_a": [ "HP:0012528" ], "is_obsolete": "", "replace_id": "" }, "HP:0012527": { "name": [ "abnormal alpha granule content", "abnormal alpha granule content" ], "alt_id": [], "def": "A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.", "synonym": [], "xref": [ "UMLS:C4022863" ], "is_a": [ "HP:0012483" ], "is_obsolete": "", "replace_id": "" }, "HP:0012528": { "name": [ "abnormal number of alpha granules", "abnormal number of alpha granule" ], "alt_id": [], "def": "A deviation from the normal count of alpha granules per thrombocyte.", "synonym": [], "xref": [ "UMLS:C4022862" ], "is_a": [ "HP:0012483" ], "is_obsolete": "", "replace_id": "" }, "HP:0012529": { "name": [ "abnormal dense granule content", "abnormal dense granule content" ], "alt_id": [], "def": "A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.", "synonym": [], "xref": [ "UMLS:C4021839" ], "is_a": [ "HP:0012484" ], "is_obsolete": "", "replace_id": "" }, "HP:0012530": { "name": [ "abnormal number of dense granules", "abnormal number of dense granule" ], "alt_id": [], "def": "A deviation from the normal count of dense granules per thrombocyte.", "synonym": [], "xref": [ "UMLS:C4022861" ], "is_a": [ "HP:0012484" ], "is_obsolete": "", "replace_id": "" }, "HP:0012531": { "name": [ "pain", "pain" ], "alt_id": [], "def": "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.", "synonym": [ [ "pain", "pain" ] ], "xref": [ "MSH:D010146", "SNOMEDCT_US:22253000", "UMLS:C0030193" ], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0012532": { "name": [ "chronic pain", "chronic pain" ], "alt_id": [], "def": "Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.", "synonym": [ [ "chronic pain", "chronic pain" ], [ "long - lasting pain", "long - lasting pain" ] ], "xref": [ "MSH:D059350", "SNOMEDCT_US:82423001", "UMLS:C0150055" ], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0012533": { "name": [ "allodynia", "allodynia" ], "alt_id": [], "def": "Pain due to a stimulus that does not normally provoke pain.", "synonym": [], "xref": [ "MSH:D006930", "SNOMEDCT_US:247404004", "UMLS:C0458247" ], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0012534": { "name": [ "dysesthesia", "dysesthesia" ], "alt_id": [ "HP:0031005" ], "def": "Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.", "synonym": [ [ "dysaesthesia", "dysaesthesia" ], [ "dysesthesias", "dysesthesias" ], [ "hyperalgesia", "hyperalgesia" ], [ "hyperpathia", "hyperpathia" ] ], "xref": [ "MSH:D010292", "SNOMEDCT_US:279079003", "UMLS:C0392699" ], "is_a": [ "HP:0010832" ], "is_obsolete": "", "replace_id": "" }, "HP:0012535": { "name": [ "abnormal synaptic transmission", "abnormal synaptic transmission" ], "alt_id": [], "def": "An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.", "synonym": [ [ "abnormality of neurotransmitter metabolism", "abnormality of neurotransmitter metabolism" ] ], "xref": [ "UMLS:C4021083" ], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0012536": { "name": [ "maternal anticardiolipin antibody positive", "maternal anticardiolipin antibody positive" ], "alt_id": [], "def": "The presence of circulating autoantibodies to anticardiolipin in the mother.", "synonym": [], "xref": [ "UMLS:C4022860" ], "is_a": [ "HP:0011437" ], "is_obsolete": "", "replace_id": "" }, "HP:0012537": { "name": [ "food intolerance", "food intolerance" ], "alt_id": [], "def": "A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction.", "synonym": [ [ "food intolerance", "food intolerance" ], [ "non - allergic food hypersensitivity", "non - allergic food hypersensitivity" ] ], "xref": [ "SNOMEDCT_US:235719002", "UMLS:C0149696" ], "is_a": [ "HP:0012337" ], "is_obsolete": "", "replace_id": "" }, "HP:0012538": { "name": [ "gluten intolerance", "gluten intolerance" ], "alt_id": [], "def": "A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease.", "synonym": [ [ "gluten intolerance", "gluten intolerance" ], [ "gluten sensitivity", "gluten sensitivity" ] ], "xref": [ "MSH:D002446", "SNOMEDCT_US:396331005", "SNOMEDCT_US:441831003", "UMLS:C0007570", "UMLS:C0850024" ], "is_a": [ "HP:0001984" ], "is_obsolete": "", "replace_id": "" }, "HP:0012539": { "name": [ "non - hodgkin lymphoma", "non - hodgkin lymphoma" ], "alt_id": [], "def": "A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.", "synonym": [], "xref": [ "MSH:D008228", "SNOMEDCT_US:118601006", "SNOMEDCT_US:128929007", "SNOMEDCT_US:188675007", "SNOMEDCT_US:1929004", "UMLS:C0024305" ], "is_a": [ "HP:0002665" ], "is_obsolete": "", "replace_id": "" }, "HP:0012540": { "name": [ "axillary epidermoid cyst", "axillary epidermoid cyst" ], "alt_id": [], "def": "An epidermoid cyst in the armpit.", "synonym": [ [ "armpit cyst", "armpit cyst" ] ], "xref": [ "UMLS:C4022859" ], "is_a": [ "HP:0200040" ], "is_obsolete": "", "replace_id": "" }, "HP:0012541": { "name": [ "cephalohematoma", "cephalohematoma" ], "alt_id": [], "def": "Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.", "synonym": [ [ "cephalohaematoma", "cephalohaematoma" ] ], "xref": [ "SNOMEDCT_US:206200000", "SNOMEDCT_US:83095000", "UMLS:C0007722" ], "is_a": [ "HP:0001787", "HP:0001892" ], "is_obsolete": "", "replace_id": "" }, "HP:0012542": { "name": [ "onychauxis", "onychauxis" ], "alt_id": [], "def": "Thickened nails without deformity.", "synonym": [], "xref": [ "SNOMEDCT_US:30654002", "UMLS:C0263536" ], "is_a": [ "HP:0001805" ], "is_obsolete": "", "replace_id": "" }, "HP:0012543": { "name": [ "hemosiderinuria", "hemosiderinuria" ], "alt_id": [], "def": "The presence of hemosiderin in the urine.", "synonym": [], "xref": [ "UMLS:C2721579" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0012544": { "name": [ "elevated aldolase level", "elevated aldolase level" ], "alt_id": [], "def": "An increased concentration of fructose 1,6-bisphosphate aldolase in the serum.", "synonym": [], "xref": [ "UMLS:C4022858" ], "is_a": [ "HP:0012400" ], "is_obsolete": "", "replace_id": "" }, "HP:0012545": { "name": [ "reduced aldolase level", "reduced aldolase level" ], "alt_id": [], "def": "An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum.", "synonym": [], "xref": [ "UMLS:C4022857" ], "is_a": [ "HP:0012400" ], "is_obsolete": "", "replace_id": "" }, "HP:0012546": { "name": [ "skewed maternal x inactivation", "skew maternal x inactivation" ], "alt_id": [], "def": "A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells.", "synonym": [], "xref": [ "UMLS:C4022856" ], "is_a": [ "HP:0002686" ], "is_obsolete": "", "replace_id": "" }, "HP:0012547": { "name": [ "abnormal involuntary eye movements", "abnormal involuntary eye movement" ], "alt_id": [], "def": "Anomalous movements of the eyes that occur without the subject wanting them to happen.", "synonym": [], "xref": [ "UMLS:C4022855" ], "is_a": [ "HP:0000496" ], "is_obsolete": "", "replace_id": "" }, "HP:0012548": { "name": [ "fatty replacement of skeletal muscle", "fatty replacement of skeletal muscle" ], "alt_id": [], "def": "Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers", "synonym": [ [ "skeletal muscle fatty infiltration", "skeletal muscle fatty infiltration" ] ], "xref": [ "UMLS:C4021082" ], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0012549": { "name": [ "conjunctival lipoma", "conjunctival lipoma" ], "alt_id": [], "def": "A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva.", "synonym": [], "xref": [ "NCIT:C3192", "UMLS:C4022854" ], "is_a": [ "HP:0000502" ], "is_obsolete": "", "replace_id": "" }, "HP:0012550": { "name": [ "colonic varices", "colonic varix" ], "alt_id": [], "def": "The presence of varices (enlarged and convoluted blood vessels) in the colon.", "synonym": [], "xref": [ "UMLS:C4022853" ], "is_a": [ "HP:0002250" ], "is_obsolete": "", "replace_id": "" }, "HP:0012551": { "name": [ "absent neutrophil specific granules", "absent neutrophil specific granule" ], "alt_id": [], "def": "Lack of specific granules in neutrophils.", "synonym": [], "xref": [ "UMLS:C4022852" ], "is_a": [ "HP:0011992" ], "is_obsolete": "", "replace_id": "" }, "HP:0012552": { "name": [ "increased neutrophil nuclear projections", "increase neutrophil nuclear projection" ], "alt_id": [], "def": "Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs.", "synonym": [], "xref": [ "UMLS:C4022851" ], "is_a": [ "HP:0011992" ], "is_obsolete": "", "replace_id": "" }, "HP:0012553": { "name": [ "hypoplastic thumbnail", "hypoplastic thumbnail" ], "alt_id": [], "def": "A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.", "synonym": [ [ "small thumbnail", "small thumbnail" ], [ "underdeveloped thumbnail", "underdeveloped thumbnail" ] ], "xref": [ "UMLS:C4022850" ], "is_a": [ "HP:0001804" ], "is_obsolete": "", "replace_id": "" }, "HP:0012554": { "name": [ "absent thumbnail", "absent thumbnail" ], "alt_id": [], "def": "Absence of thumb nail.", "synonym": [], "xref": [ "UMLS:C4022849" ], "is_a": [ "HP:0001817" ], "is_obsolete": "", "replace_id": "" }, "HP:0012555": { "name": [ "absent nail of hallux", "absent nail of hallux" ], "alt_id": [], "def": "Absent nail of big toe.", "synonym": [ [ "absent big toe nail", "absent big toe nail" ], [ "absent nail of big toe", "absent nail of big toe" ] ], "xref": [ "UMLS:C4021081" ], "is_a": [ "HP:0001802" ], "is_obsolete": "", "replace_id": "" }, "HP:0012556": { "name": [ "hyperbeta - alaninemia", "hyperbeta - alaninemia" ], "alt_id": [], "def": "Increased concentration of beta-alanine in the blood.", "synonym": [ [ "high blood beta - alanine levels", "high blood beta - alanine level" ], [ "hyperbeta - alaninemia", "hyperbeta - alaninemia" ], [ "hyperbetaalaninemia", "hyperbetaalaninemia" ] ], "xref": [ "UMLS:C4021080" ], "is_a": [ "HP:0033109" ], "is_obsolete": "", "replace_id": "" }, "HP:0012557": { "name": [ "eeg with centrotemporal focal spike waves", "eeg with centrotemporal focal spike wave" ], "alt_id": [], "def": "EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.", "synonym": [], "xref": [ "UMLS:C4022848" ], "is_a": [ "HP:0011197", "HP:0033721" ], "is_obsolete": "", "replace_id": "" }, "HP:0012558": { "name": [ "abnormal t3 / t4 ratio", "abnormal t3 / t4 ratio" ], "alt_id": [], "def": "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.", "synonym": [], "xref": [ "UMLS:C4022847" ], "is_a": [ "HP:0031508" ], "is_obsolete": "", "replace_id": "" }, "HP:0012559": { "name": [ "increased t3 / t4 ratio", "increase t3 / t4 ratio" ], "alt_id": [], "def": "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal.", "synonym": [], "xref": [ "UMLS:C4022846" ], "is_a": [ "HP:0012558" ], "is_obsolete": "", "replace_id": "" }, "HP:0012560": { "name": [ "decreased t3 / t4 ratio", "decrease t3 / t4 ratio" ], "alt_id": [], "def": "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal.", "synonym": [], "xref": [ "UMLS:C4022845" ], "is_a": [ "HP:0012558" ], "is_obsolete": "", "replace_id": "" }, "HP:0012561": { "name": [ "unicuspid aortic valve", "unicuspid aortic valve" ], "alt_id": [], "def": "The presence of an aortic valve with one instead of the normal three cusps (flaps).", "synonym": [], "xref": [ "SNOMEDCT_US:253610004", "UMLS:C0345001" ], "is_a": [ "HP:0031567" ], "is_obsolete": "", "replace_id": "" }, "HP:0012562": { "name": [ "premature epimetaphyseal fusion in hand", "premature epimetaphyseal fusion in hand" ], "alt_id": [], "def": "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.", "synonym": [], "xref": [ "UMLS:C4022844" ], "is_a": [ "HP:0010588" ], "is_obsolete": "", "replace_id": "" }, "HP:0012563": { "name": [ "premature epimetaphyseal fusion in foot", "premature epimetaphyseal fusion in foot" ], "alt_id": [], "def": "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.", "synonym": [], "xref": [ "UMLS:C4022843" ], "is_a": [ "HP:0010588" ], "is_obsolete": "", "replace_id": "" }, "HP:0012564": { "name": [ "premature epimetaphyseal fusion in tibia", "premature epimetaphyseal fusion in tibia" ], "alt_id": [], "def": "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.", "synonym": [], "xref": [ "UMLS:C4022842" ], "is_a": [ "HP:0010588" ], "is_obsolete": "", "replace_id": "" }, "HP:0012565": { "name": [ "premature epimetaphyseal fusion in fibula", "premature epimetaphyseal fusion in fibula" ], "alt_id": [], "def": "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.", "synonym": [], "xref": [ "UMLS:C4021838" ], "is_a": [ "HP:0010588" ], "is_obsolete": "", "replace_id": "" }, "HP:0012566": { "name": [ "premature epimetaphyseal fusion in radius", "premature epimetaphyseal fusion in radius" ], "alt_id": [], "def": "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.", "synonym": [], "xref": [ "UMLS:C4022841" ], "is_a": [ "HP:0010588" ], "is_obsolete": "", "replace_id": "" }, "HP:0012567": { "name": [ "premature epimetaphyseal fusion in ulna", "premature epimetaphyseal fusion in ulna" ], "alt_id": [], "def": "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.", "synonym": [], "xref": [ "UMLS:C4022840" ], "is_a": [ "HP:0010588" ], "is_obsolete": "", "replace_id": "" }, "HP:0012568": { "name": [ "lower eyelid edema", "low eyelid edema" ], "alt_id": [], "def": "Edema in the region of the Lower eyelid.", "synonym": [ [ "cellulitis of lower eyelid", "cellulitis of low eyelid" ], [ "fullness of lower eyelid", "fullness of low eyelid" ], [ "lower eyelid oedema", "low eyelid oedema" ], [ "puffiness of lower eyelid", "puffiness of low eyelid" ], [ "swelling of lower eyelid", "swelling of low eyelid" ] ], "xref": [ "SNOMEDCT_US:700327003", "UMLS:C2025810", "UMLS:C3839997" ], "is_a": [ "HP:0100540" ], "is_obsolete": "", "replace_id": "" }, "HP:0012569": { "name": [ "delayed menarche", "delay menarche" ], "alt_id": [], "def": "First period after the age of 15 years.", "synonym": [ [ "delayed start of first period", "delayed start of first period" ] ], "xref": [ "UMLS:C0949173" ], "is_a": [ "HP:0000140", "HP:0000823" ], "is_obsolete": "", "replace_id": "" }, "HP:0012570": { "name": [ "synovial sarcoma", "synovial sarcoma" ], "alt_id": [], "def": "A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities.", "synonym": [ [ "malignant synovioma", "malignant synovioma" ] ], "xref": [ "MSH:D013584", "SNOMEDCT_US:302851001", "SNOMEDCT_US:63211008", "UMLS:C0039101" ], "is_a": [ "HP:0030448" ], "is_obsolete": "", "replace_id": "" }, "HP:0012571": { "name": [ "ureter fissus", "ureter fissus" ], "alt_id": [], "def": "A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder.", "synonym": [ [ "partially duplicated ureter", "partially duplicate ureter" ] ], "xref": [ "ICD-10:Q62.5 \"Duplication of ureter\"", "UMLS:C4021079" ], "is_a": [ "HP:0000073" ], "is_obsolete": "", "replace_id": "" }, "HP:0012572": { "name": [ "ureter duplex", "ureter duplex" ], "alt_id": [], "def": "A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder.", "synonym": [], "xref": [ "ICD-10:Q62.5 \"Duplication of ureter\"", "SNOMEDCT_US:49496001", "UMLS:C0221365" ], "is_a": [ "HP:0000073" ], "is_obsolete": "", "replace_id": "" }, "HP:0012573": { "name": [ "global proximal tubulopathy", "global proximal tubulopathy" ], "alt_id": [], "def": "A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis.", "synonym": [], "xref": [ "UMLS:C4022839" ], "is_a": [ "HP:0000114" ], "is_obsolete": "", "replace_id": "" }, "HP:0012574": { "name": [ "mesangial hypercellularity", "mesangial hypercellularity" ], "alt_id": [], "def": "Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.", "synonym": [ [ "mesangial proliferation", "mesangial proliferation" ] ], "xref": [ "SNOMEDCT_US:125510009", "UMLS:C0545017" ], "is_a": [ "HP:0033231" ], "is_obsolete": "", "replace_id": "" }, "HP:0012575": { "name": [ "abnormal nephron morphology", "abnormal nephron morphology" ], "alt_id": [], "def": "A structural anomaly of the nephron.", "synonym": [ [ "abnormality of the nephron", "abnormality of the nephron" ] ], "xref": [ "UMLS:C4022838" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0012576": { "name": [ "glomerular c3 deposition", "glomerular c3 deposition" ], "alt_id": [], "def": "The presence of complement 3 deposits in the glomerulus.", "synonym": [ [ "c3 nephropathy", "c3 nephropathy" ], [ "renal c3 deposition", "renal c3 deposition" ] ], "xref": [ "UMLS:C4022837" ], "is_a": [ "HP:0030949" ], "is_obsolete": "", "replace_id": "" }, "HP:0012577": { "name": [ "thin glomerular basement membrane", "thin glomerular basement membrane" ], "alt_id": [], "def": "Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs.", "synonym": [], "xref": [ "UMLS:C3276821" ], "is_a": [ "HP:0033282" ], "is_obsolete": "", "replace_id": "" }, "HP:0012578": { "name": [ "membranous nephropathy", "membranous nephropathy" ], "alt_id": [], "def": "A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space.", "synonym": [ [ "membranous glomerulonephritis", "membranous glomerulonephritis" ] ], "xref": [ "MSH:D015433", "SNOMEDCT_US:77182004", "UMLS:C0017665" ], "is_a": [ "HP:0000099" ], "is_obsolete": "", "replace_id": "" }, "HP:0012579": { "name": [ "minimal change glomerulonephritis", "minimal change glomerulonephritis" ], "alt_id": [], "def": "The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria.", "synonym": [ [ "minimal change disease", "minimal change disease" ], [ "minimal change nephropathy", "minimal change nephropathy" ] ], "xref": [ "MSH:D009402", "SNOMEDCT_US:44785005", "UMLS:C0027721" ], "is_a": [ "HP:0000099" ], "is_obsolete": "", "replace_id": "" }, "HP:0012580": { "name": [ "calcium phosphate nephrolithiasis", "calcium phosphate nephrolithiasis" ], "alt_id": [], "def": "The presence of calcium- and phosphate-containing calculi (stones) in the kidneys.", "synonym": [ [ "ca phosphate nephrolithiasis", "ca phosphate nephrolithiasis" ], [ "ca phosphate urolithiasis", "ca phosphate urolithiasis" ], [ "ca2+ phosphate nephrolitiasis", "ca2+ phosphate nephrolitiasis" ], [ "ca2+ phosphate urolithiasis", "ca2+ phosphate urolithiasis" ], [ "calcium phosphate urolithiasis", "calcium phosphate urolithiasis" ] ], "xref": [ "UMLS:C3671880" ], "is_a": [ "HP:0004724" ], "is_obsolete": "", "replace_id": "" }, "HP:0012581": { "name": [ "simple renal cyst", "simple renal cyst" ], "alt_id": [], "def": "An isolated cyst of the kidney.", "synonym": [ [ "simple kidney cyst", "simple kidney cyst" ], [ "solitary renal cyst", "solitary renal cyst" ] ], "xref": [ "SNOMEDCT_US:77945009", "UMLS:C0268800", "UMLS:C4022836" ], "is_a": [ "HP:0000107" ], "is_obsolete": "", "replace_id": "" }, "HP:0012582": { "name": [ "bilateral renal dysplasia", "bilateral renal dysplasia" ], "alt_id": [], "def": "A bilateral form of developmental dysplasia of the kidney.", "synonym": [], "xref": [ "SNOMEDCT_US:204950001", "UMLS:C0431698" ], "is_a": [ "HP:0000110" ], "is_obsolete": "", "replace_id": "" }, "HP:0012583": { "name": [ "unilateral renal hypoplasia", "unilateral renal hypoplasia" ], "alt_id": [], "def": "One sided hypoplasia of the kidney.", "synonym": [ [ "small kidney on one side", "small kidney on one side" ], [ "underdeveloped kidney on one side", "underdeveloped kidney on one side" ] ], "xref": [ "SNOMEDCT_US:204948009", "UMLS:C0431691" ], "is_a": [ "HP:0000089" ], "is_obsolete": "", "replace_id": "" }, "HP:0012584": { "name": [ "bilateral renal hypoplasia", "bilateral renal hypoplasia" ], "alt_id": [], "def": "Two sided hypoplasia of the kidney.", "synonym": [], "xref": [ "SNOMEDCT_US:268232000", "UMLS:C0431692" ], "is_a": [ "HP:0000089" ], "is_obsolete": "", "replace_id": "" }, "HP:0012585": { "name": [ "renal atrophy", "renal atrophy" ], "alt_id": [], "def": "Atrophy of the kidney.", "synonym": [ [ "kidney degeneration", "kidney degeneration" ] ], "xref": [ "SNOMEDCT_US:197659005", "UMLS:C0341698" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0012586": { "name": [ "bilateral renal atrophy", "bilateral renal atrophy" ], "alt_id": [], "def": "A two-sided form of atrophy of the kidney.", "synonym": [ [ "bilateral kidney degeneration", "bilateral kidney degeneration" ] ], "xref": [ "UMLS:C4022835" ], "is_a": [ "HP:0012585" ], "is_obsolete": "", "replace_id": "" }, "HP:0012587": { "name": [ "macroscopic hematuria", "macroscopic hematuria" ], "alt_id": [], "def": "Hematuria that is visible upon inspection of the urine.", "synonym": [ [ "bloody urine", "bloody urine" ], [ "gross hematuria", "gross hematuria" ] ], "xref": [ "SNOMEDCT_US:197941005", "UMLS:C0473237" ], "is_a": [ "HP:0000790" ], "is_obsolete": "", "replace_id": "" }, "HP:0012588": { "name": [ "steroid - resistant nephrotic syndrome", "steroid - resistant nephrotic syndrome" ], "alt_id": [], "def": "A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication.", "synonym": [], "xref": [ "SNOMEDCT_US:236381000", "UMLS:C0403397" ], "is_a": [ "HP:0000100" ], "is_obsolete": "", "replace_id": "" }, "HP:0012589": { "name": [ "multidrug - resistant nephrotic syndrome", "multidrug - resistant nephrotic syndrome" ], "alt_id": [], "def": "A form of nephrotic syndrome that does not respond to any immunosuppresive treatment.", "synonym": [], "xref": [ "UMLS:C4022834" ], "is_a": [ "HP:0000100" ], "is_obsolete": "", "replace_id": "" }, "HP:0012590": { "name": [ "abnormal urine output", "abnormal urine output" ], "alt_id": [], "def": "An abnormal amount of urine production.", "synonym": [], "xref": [ "UMLS:C3693260" ], "is_a": [ "HP:0011036" ], "is_obsolete": "", "replace_id": "" }, "HP:0012591": { "name": [ "abnormal urinary electrolyte concentration", "abnormal urinary electrolyte concentration" ], "alt_id": [], "def": "An abnormality in the concentration of electrolytes in the urine.", "synonym": [ [ "urinary electrolyte imbalance", "urinary electrolyte imbalance" ] ], "xref": [ "UMLS:C4022833" ], "is_a": [ "HP:0003110" ], "is_obsolete": "", "replace_id": "" }, "HP:0012592": { "name": [ "albuminuria", "albuminuria" ], "alt_id": [], "def": "Increased concentration of albumin in the urine.", "synonym": [], "xref": [ "MSH:D000419", "SNOMEDCT_US:274769005", "UMLS:C0001925" ], "is_a": [ "HP:0020129" ], "is_obsolete": "", "replace_id": "" }, "HP:0012593": { "name": [ "nephrotic range proteinuria", "nephrotic range proteinuria" ], "alt_id": [], "def": "Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.", "synonym": [], "xref": [ "SNOMEDCT_US:264867001", "UMLS:C0445118" ], "is_a": [ "HP:0000093" ], "is_obsolete": "", "replace_id": "" }, "HP:0012594": { "name": [ "moderate albuminuria", "moderate albuminuria" ], "alt_id": [], "def": "The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol).", "synonym": [ [ "high urine albumin levels", "high urine albumin level" ], [ "microalbuminuria", "microalbuminuria" ] ], "xref": [ "SNOMEDCT_US:312975006", "UMLS:C0730345", "UMLS:C1654921" ], "is_a": [ "HP:0012592" ], "is_obsolete": "", "replace_id": "" }, "HP:0012595": { "name": [ "mild proteinuria", "mild proteinuria" ], "alt_id": [], "def": "Mildly increased levels of protein in the urine (150-500 mg per day in adults).", "synonym": [], "xref": [ "UMLS:C4022832" ], "is_a": [ "HP:0000093" ], "is_obsolete": "", "replace_id": "" }, "HP:0012596": { "name": [ "moderate proteinuria", "moderate proteinuria" ], "alt_id": [], "def": "Moderately increased levels of protein in the urine (500-1000 mg per day in adults).", "synonym": [], "xref": [ "UMLS:C4022831" ], "is_a": [ "HP:0000093" ], "is_obsolete": "", "replace_id": "" }, "HP:0012597": { "name": [ "heavy proteinuria", "heavy proteinuria" ], "alt_id": [], "def": "Severely increased levels of protein in the urine (1000-3000 mg per day in adults).", "synonym": [ [ "severly high blood protein levels", "severly high blood protein level" ] ], "xref": [ "UMLS:C4022830" ], "is_a": [ "HP:0000093" ], "is_obsolete": "", "replace_id": "" }, "HP:0012598": { "name": [ "abnormal urine potassium concentration", "abnormal urine potassium concentration" ], "alt_id": [], "def": "An abnormal concentration of potassium(1+) in the urine.", "synonym": [ [ "abnormal urine k concentration", "abnormal urine k concentration" ] ], "xref": [ "UMLS:C4022829" ], "is_a": [ "HP:0012591" ], "is_obsolete": "", "replace_id": "" }, "HP:0012599": { "name": [ "abnormal urine phosphate concentration", "abnormal urine phosphate concentration" ], "alt_id": [], "def": "An abnormal phosphate concentration in the urine.", "synonym": [], "xref": [ "UMLS:C4022828" ], "is_a": [ "HP:0012591" ], "is_obsolete": "", "replace_id": "" }, "HP:0012600": { "name": [ "abnormal urine chloride concentration", "abnormal urine chloride concentration" ], "alt_id": [], "def": "An abnormal concentration of chloride in the urine.", "synonym": [ [ "abnormal urine cl concentration", "abnormal urine cl concentration" ], [ "abnormal urine cl - concentration", "abnormal urine cl - concentration" ] ], "xref": [ "UMLS:C4022827" ], "is_a": [ "HP:0012591" ], "is_obsolete": "", "replace_id": "" }, "HP:0012601": { "name": [ "hypochloriduria", "hypochloriduria" ], "alt_id": [], "def": "An decreased concentration of chloride in the urine.", "synonym": [ [ "decreased urinary chloride", "decrease urinary chloride" ], [ "low urine chloride levels", "low urine chloride level" ] ], "xref": [ "UMLS:C4021078" ], "is_a": [ "HP:0012600" ], "is_obsolete": "", "replace_id": "" }, "HP:0012602": { "name": [ "renal chloride wasting", "renal chloride wasting" ], "alt_id": [], "def": "High urine chloride in the presence of hypochloridemia.", "synonym": [ [ "kidney chloride wasting", "kidney chloride waste" ], [ "renal cl wasting", "renal cl wasting" ], [ "renal cl - wasting", "renal cl - wasting" ] ], "xref": [ "UMLS:C4022826" ], "is_a": [ "HP:0012600" ], "is_obsolete": "", "replace_id": "" }, "HP:0012603": { "name": [ "abnormal urine sodium concentration", "abnormal urine sodium concentration" ], "alt_id": [], "def": "An abnormal concentration of sodium in the urine.", "synonym": [ [ "abnormal urine na concentration", "abnormal urine na concentration" ], [ "abnormal urine na+ levels", "abnormal urine na+ level" ] ], "xref": [ "UMLS:C4022825" ], "is_a": [ "HP:0012591" ], "is_obsolete": "", "replace_id": "" }, "HP:0012604": { "name": [ "hyponatriuria", "hyponatriuria" ], "alt_id": [], "def": "An abnormally decreased sodium concentration in the urine.", "synonym": [ [ "low urine sodium levels", "low urine sodium level" ] ], "xref": [ "UMLS:C4022824" ], "is_a": [ "HP:0012603" ], "is_obsolete": "", "replace_id": "" }, "HP:0012605": { "name": [ "hypernatriuria", "hypernatriuria" ], "alt_id": [ "HP:0003608" ], "def": "An increased concentration of sodium(1+) in the urine.", "synonym": [ [ "increased urinary sodium", "increase urinary sodium" ] ], "xref": [ "UMLS:C3671887" ], "is_a": [ "HP:0012603" ], "is_obsolete": "", "replace_id": "" }, "HP:0012606": { "name": [ "renal sodium wasting", "renal sodium wasting" ], "alt_id": [], "def": "An abnormally increased sodium concentration in the urine in the presence of hyponatremia.", "synonym": [ [ "kidney sodium wasting", "kidney sodium wasting" ], [ "renal na wasting", "renal na waste" ], [ "renal na+ wasting", "renal na+ wasting" ] ], "xref": [ "UMLS:C2748576" ], "is_a": [ "HP:0012603" ], "is_obsolete": "", "replace_id": "" }, "HP:0012607": { "name": [ "abnormal urine magnesium concentration", "abnormal urine magnesium concentration" ], "alt_id": [], "def": "An abnormal concentration of magnesium the urine.", "synonym": [ [ "abnormal urine magnesium concentration", "abnormal urine magnesium concentration" ] ], "xref": [ "UMLS:C4022823" ], "is_a": [ "HP:0012591" ], "is_obsolete": "", "replace_id": "" }, "HP:0012608": { "name": [ "hypermagnesiuria", "hypermagnesiuria" ], "alt_id": [], "def": "An increased concentration of magnesium the urine.", "synonym": [], "xref": [ "UMLS:C2673443" ], "is_a": [ "HP:0012607" ], "is_obsolete": "", "replace_id": "" }, "HP:0012609": { "name": [ "hypomagnesiuria", "hypomagnesiuria" ], "alt_id": [], "def": "An decreased concentration of magnesium the urine.", "synonym": [ [ "decreased urine magnesium", "decrease urine magnesium" ], [ "low urine magnesium levels", "low urine magnesium level" ] ], "xref": [ "UMLS:C3203528" ], "is_a": [ "HP:0012607" ], "is_obsolete": "", "replace_id": "" }, "HP:0012610": { "name": [ "abnormality of urinary uric acid concentration", "abnormality of urinary uric acid concentration" ], "alt_id": [], "def": "Abnormal concentration of urate in the urine.", "synonym": [], "xref": [ "UMLS:C4022822" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0012611": { "name": [ "increased urinary urate", "increase urinary urate" ], "alt_id": [], "def": "Elevated concentration of urate in the urine.", "synonym": [], "xref": [ "UMLS:C0878672" ], "is_a": [ "HP:0012610" ], "is_obsolete": "", "replace_id": "" }, "HP:0012612": { "name": [ "abnormal urinary sulfate concentration", "abnormal urinary sulfate concentration" ], "alt_id": [], "def": "Abnormal concentration of sulfate in the urine.", "synonym": [ [ "abnormal urinary sulphate concentration", "abnormal urinary sulphate concentration" ] ], "xref": [ "UMLS:C4022821" ], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0012613": { "name": [ "increased urinary sulfate", "increase urinary sulfate" ], "alt_id": [], "def": "Elevated concentration of SO4(2-), i.e., sulfate, in the urine.", "synonym": [ [ "increased urinary sulphate", "increase urinary sulphate" ] ], "xref": [ "UMLS:C4022820" ], "is_a": [ "HP:0012612" ], "is_obsolete": "", "replace_id": "" }, "HP:0012614": { "name": [ "abnormal urine cytology", "abnormal urine cytology" ], "alt_id": [], "def": "An anomalous finding in the examination of the urine for cells.", "synonym": [], "xref": [ "SNOMEDCT_US:310439007", "UMLS:C0587955" ], "is_a": [ "HP:0003110" ], "is_obsolete": "", "replace_id": "" }, "HP:0012615": { "name": [ "cylindruria", "cylindruria" ], "alt_id": [], "def": "The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine.", "synonym": [ [ "urinary casts", "urinary cast" ] ], "xref": [ "SNOMEDCT_US:5277004", "UMLS:C0151990" ], "is_a": [ "HP:0012614" ], "is_obsolete": "", "replace_id": "" }, "HP:0012616": { "name": [ "leukocyte cylindruria", "leukocyte cylindruria" ], "alt_id": [], "def": "Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.", "synonym": [ [ "white blood cell casts", "white blood cell cast" ] ], "xref": [ "UMLS:C4022819" ], "is_a": [ "HP:0031197" ], "is_obsolete": "", "replace_id": "" }, "HP:0012617": { "name": [ "erythrocyte cylindruria", "erythrocyte cylindruria" ], "alt_id": [], "def": "Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.", "synonym": [ [ "red blood cell casts", "red blood cell cast" ], [ "urinary erythrocyte cast", "urinary erythrocyte cast" ] ], "xref": [ "UMLS:C4022818" ], "is_a": [ "HP:0031197" ], "is_obsolete": "", "replace_id": "" }, "HP:0012618": { "name": [ "urachal cyst", "urachal cyst" ], "alt_id": [], "def": "A cyst located along the allantois canal.", "synonym": [], "xref": [ "MSH:D014496", "SNOMEDCT_US:17234001", "UMLS:C0041915" ], "is_a": [ "HP:0010478" ], "is_obsolete": "", "replace_id": "" }, "HP:0012619": { "name": [ "multiple bladder diverticula", "multiple bladder diverticulum" ], "alt_id": [], "def": "Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder.", "synonym": [ [ "multiple pouches in bladder wall", "multiple pouch in bladder wall" ] ], "xref": [ "UMLS:C4022817" ], "is_a": [ "HP:0000015" ], "is_obsolete": "", "replace_id": "" }, "HP:0012620": { "name": [ "cloacal abnormality", "cloacal abnormality" ], "alt_id": [], "def": "A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate.", "synonym": [], "xref": [ "UMLS:C4022816" ], "is_a": [ "HP:0000119", "HP:0010866" ], "is_obsolete": "", "replace_id": "" }, "HP:0012621": { "name": [ "persistent cloaca", "persistent cloaca" ], "alt_id": [], "def": "Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.", "synonym": [ [ "cloacogenic bladder", "cloacogenic bladder" ] ], "xref": [ "SNOMEDCT_US:74829002", "UMLS:C0266225" ], "is_a": [ "HP:0012620" ], "is_obsolete": "", "replace_id": "" }, "HP:0012622": { "name": [ "chronic kidney disease", "chronic kidney disease" ], "alt_id": [ "HP:0000106", "HP:0001918", "HP:0008671" ], "def": "Functional anomaly of the kidney persisting for at least three months.", "synonym": [ [ "chronic kidney disease", "chronic kidney disease" ], [ "loss of renal function", "loss of renal function" ], [ "progressive renal failure", "progressive renal failure" ], [ "progressive renal insufficiency", "progressive renal insufficiency" ], [ "renal failure , progressive", "renal failure , progressive" ], [ "renal insufficiency , progressive", "renal insufficiency , progressive" ] ], "xref": [ "MSH:D051436", "SNOMEDCT_US:709044004", "UMLS:C0748318", "UMLS:C1561643" ], "is_a": [ "HP:0000083" ], "is_obsolete": "", "replace_id": "" }, "HP:0012623": { "name": [ "stage 1 chronic kidney disease", "stage 1 chronic kidney disease" ], "alt_id": [], "def": "A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).", "synonym": [], "xref": [ "SNOMEDCT_US:431855005", "UMLS:C2316401" ], "is_a": [ "HP:0012622" ], "is_obsolete": "", "replace_id": "" }, "HP:0012624": { "name": [ "stage 2 chronic kidney disease", "stage 2 chronic kidney disease" ], "alt_id": [], "def": "A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).", "synonym": [], "xref": [ "SNOMEDCT_US:431856006", "UMLS:C2316786" ], "is_a": [ "HP:0012622" ], "is_obsolete": "", "replace_id": "" }, "HP:0012625": { "name": [ "stage 3 chronic kidney disease", "stage 3 chronic kidney disease" ], "alt_id": [], "def": "A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).", "synonym": [], "xref": [ "SNOMEDCT_US:433144002", "UMLS:C2316787" ], "is_a": [ "HP:0012622" ], "is_obsolete": "", "replace_id": "" }, "HP:0012626": { "name": [ "stage 4 chronic kidney disease", "stage 4 chronic kidney disease" ], "alt_id": [], "def": "A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).", "synonym": [ [ "stage 4 chronic kidney disease", "stage 4 chronic kidney disease" ] ], "xref": [ "SNOMEDCT_US:431857002", "UMLS:C2317473" ], "is_a": [ "HP:0012622" ], "is_obsolete": "", "replace_id": "" }, "HP:0012627": { "name": [ "pseudoexfoliation", "pseudoexfoliation" ], "alt_id": [], "def": "Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor.", "synonym": [], "xref": [ "UMLS:C4022815" ], "is_a": [ "HP:0004328" ], "is_obsolete": "", "replace_id": "" }, "HP:0012628": { "name": [ "abnormal suspensory ligament of lens morphology", "abnormal suspensory ligament of lens morphology" ], "alt_id": [], "def": "An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place.", "synonym": [ [ "abnormality of the suspensory ligament of lens", "abnormality of the suspensory ligament of lens" ], [ "abnormality of zinn 's membrane", "abnormality of zinn 's membrane" ], [ "ciliary zonule abnormality", "ciliary zonule abnormality" ], [ "zonule of zinn abnormality", "zonule of zinn abnormality" ] ], "xref": [ "UMLS:C4021077" ], "is_a": [ "HP:0004328" ], "is_obsolete": "", "replace_id": "" }, "HP:0012629": { "name": [ "phakodonesis", "phakodonesis" ], "alt_id": [], "def": "Tremulousness (trembling) of the lens of the eye.", "synonym": [ [ "phacodonesis", "phacodonesis" ], [ "trembling eye lens", "tremble eye lens" ] ], "xref": [ "SNOMEDCT_US:116669003", "UMLS:C2939415" ], "is_a": [ "HP:0000517" ], "is_obsolete": "", "replace_id": "" }, "HP:0012630": { "name": [ "abnormal trabecular meshwork morphology", "abnormal trabecular meshwork morphology" ], "alt_id": [], "def": "An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm.", "synonym": [ [ "abnormality of the trabecular meshwork", "abnormality of the trabecular meshwork" ] ], "xref": [ "UMLS:C4022814" ], "is_a": [ "HP:0000593" ], "is_obsolete": "", "replace_id": "" }, "HP:0012631": { "name": [ "pigment deposition in the trabecular meshwork", "pigment deposition in the trabecular meshwork" ], "alt_id": [], "def": "Accumulation of abnormal amounts of pigment within the trabecular meshwork.", "synonym": [], "xref": [ "UMLS:C3805899" ], "is_a": [ "HP:0012630" ], "is_obsolete": "", "replace_id": "" }, "HP:0012632": { "name": [ "abnormal intraocular pressure", "abnormal intraocular pressure" ], "alt_id": [], "def": "An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.", "synonym": [ [ "abnormal eye pressure", "abnormal eye pressure" ], [ "abnormal intraocular pressure", "abnormal intraocular pressure" ] ], "xref": [ "MP:0005257 \"Abnormal intraocular pressure\"", "SNOMEDCT_US:24075007", "UMLS:C0520999" ], "is_a": [ "HP:0012373" ], "is_obsolete": "", "replace_id": "" }, "HP:0012633": { "name": [ "asymmetry of intraocular pressure", "asymmetry of intraocular pressure" ], "alt_id": [], "def": "A difference in the amount of intraocular pressure in the right and left eye.", "synonym": [], "xref": [ "UMLS:C3805901" ], "is_a": [ "HP:0012632" ], "is_obsolete": "", "replace_id": "" }, "HP:0012634": { "name": [ "iris pigment dispersion", "iris pigment dispersion" ], "alt_id": [], "def": "Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor.", "synonym": [], "xref": [ "UMLS:C4022813" ], "is_a": [ "HP:0008034" ], "is_obsolete": "", "replace_id": "" }, "HP:0012635": { "name": [ "iris hypoperfusion", "iris hypoperfusion" ], "alt_id": [], "def": "Reduction in the amount of blood flow to the iris.", "synonym": [], "xref": [ "UMLS:C4022812" ], "is_a": [ "HP:0007905" ], "is_obsolete": "", "replace_id": "" }, "HP:0012636": { "name": [ "retinal vein occlusion", "retinal vein occlusion" ], "alt_id": [], "def": "Blockage of the retinal vein.", "synonym": [], "xref": [ "MSH:D012170", "SNOMEDCT_US:46085004", "UMLS:C0035328" ], "is_a": [ "HP:0008046" ], "is_obsolete": "", "replace_id": "" }, "HP:0012637": { "name": [ "renal calcium wasting", "renal calcium wasting" ], "alt_id": [], "def": "High urine calcium in the presence of hypocalcemia.", "synonym": [ [ "kidney ca wasting", "kidney ca waste" ], [ "kidney ca2+ wasting", "kidney ca2+ waste" ], [ "kidney calcium wasting", "kidney calcium wasting" ], [ "renal ca wasting", "renal ca waste" ], [ "renal ca2+ wasting", "renal ca2+ wasting" ] ], "xref": [ "UMLS:C2673441" ], "is_a": [ "HP:0011280" ], "is_obsolete": "", "replace_id": "" }, "HP:0012638": { "name": [ "abnormal nervous system physiology", "abnormal nervous system physiology" ], "alt_id": [], "def": "A functional anomaly of the nervous system.", "synonym": [ [ "abnormality of nervous system physiology", "abnormality of nervous system physiology" ] ], "xref": [ "UMLS:C4022811" ], "is_a": [ "HP:0000707" ], "is_obsolete": "", "replace_id": "" }, "HP:0012639": { "name": [ "abnormal nervous system morphology", "abnormal nervous system morphology" ], "alt_id": [], "def": "A structural anomaly of the nervous system.", "synonym": [ [ "abnormal nervous system morphology", "abnormal nervous system morphology" ], [ "abnormal shape of nervous system", "abnormal shape of nervous system" ], [ "abnormality of nervous system morphology", "abnormality of nervous system morphology" ] ], "xref": [ "Fyler:4135", "Fyler:4300", "UMLS:C4022810" ], "is_a": [ "HP:0000707" ], "is_obsolete": "", "replace_id": "" }, "HP:0012640": { "name": [ "abnormality of intracranial pressure", "abnormality of intracranial pressure" ], "alt_id": [], "def": "A deviation from the norm of the intracranial pressure.", "synonym": [], "xref": [ "UMLS:C4022809" ], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0012641": { "name": [ "decreased intracranial pressure", "decrease intracranial pressure" ], "alt_id": [], "def": "A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.", "synonym": [ [ "intracranial hypotension", "intracranial hypotension" ] ], "xref": [ "SNOMEDCT_US:167714004", "SNOMEDCT_US:277657001", "UMLS:C0456892" ], "is_a": [ "HP:0012640" ], "is_obsolete": "", "replace_id": "" }, "HP:0012642": { "name": [ "cerebellar agenesis", "cerebellar agenesis" ], "alt_id": [], "def": "Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles.", "synonym": [], "xref": [ "UMLS:C4022808" ], "is_a": [ "HP:0007360" ], "is_obsolete": "", "replace_id": "" }, "HP:0012643": { "name": [ "foveal hypopigmentation", "foveal hypopigmentation" ], "alt_id": [], "def": "Decreased amount of pigmentation in the fovea centralis.", "synonym": [], "xref": [ "UMLS:C4022807" ], "is_a": [ "HP:0030493" ], "is_obsolete": "", "replace_id": "" }, "HP:0012644": { "name": [ "increased caudate lactate level", "increase caudate lactate level" ], "alt_id": [], "def": "An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging.", "synonym": [], "xref": [ "UMLS:C4022806" ], "is_a": [ "HP:0002339" ], "is_obsolete": "", "replace_id": "" }, "HP:0012645": { "name": [ "enlarged peripheral nerve", "enlarged peripheral nerve" ], "alt_id": [], "def": "Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.", "synonym": [ [ "enlarged peripheral nerves", "enlarged peripheral nerve" ] ], "xref": [ "UMLS:C2675074" ], "is_a": [ "HP:0045010" ], "is_obsolete": "", "replace_id": "" }, "HP:0012646": { "name": [ "retractile testis", "retractile testis" ], "alt_id": [], "def": "A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.", "synonym": [ [ "retractile testicle", "retractile testicle" ] ], "xref": [ "SNOMEDCT_US:21779006", "UMLS:C0520578" ], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0012647": { "name": [ "abnormal inflammatory response", "abnormal inflammatory response" ], "alt_id": [], "def": "Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.", "synonym": [ [ "abnormal inflammatory response", "abnormal inflammatory response" ] ], "xref": [ "UMLS:C4022805" ], "is_a": [ "HP:0010978" ], "is_obsolete": "", "replace_id": "" }, "HP:0012648": { "name": [ "decreased inflammatory response", "decreased inflammatory response" ], "alt_id": [], "def": "An abnormal reduction in the inflammatory response to injury or infection.", "synonym": [ [ "decreased inflammatory response", "decreased inflammatory response" ] ], "xref": [ "UMLS:C4022804" ], "is_a": [ "HP:0012647" ], "is_obsolete": "", "replace_id": "" }, "HP:0012649": { "name": [ "increased inflammatory response", "increased inflammatory response" ], "alt_id": [], "def": "A abnormal increase in the inflammatory response to injury or infection.", "synonym": [], "xref": [ "UMLS:C4022803" ], "is_a": [ "HP:0012647" ], "is_obsolete": "", "replace_id": "" }, "HP:0012650": { "name": [ "perisylvian polymicrogyria", "perisylvian polymicrogyria" ], "alt_id": [ "HP:0007095" ], "def": "Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.", "synonym": [ [ "frontoparietal polymicrogyria", "frontoparietal polymicrogyria" ] ], "xref": [ "UMLS:C3279675" ], "is_a": [ "HP:0002126" ], "is_obsolete": "", "replace_id": "" }, "HP:0012651": { "name": [ "abasia", "abasia" ], "alt_id": [], "def": "A severe form of gait ataxia such that an affected person cannot walk at all.", "synonym": [], "xref": [ "UMLS:C0877217" ], "is_a": [ "HP:0002066" ], "is_obsolete": "", "replace_id": "" }, "HP:0012652": { "name": [ "exercise - induced asthma", "exercise - induced asthma" ], "alt_id": [], "def": "Asthma attacks following exercise.", "synonym": [ [ "exercise - induced asthma", "exercise - induced asthma" ] ], "xref": [ "MSH:D001250", "SNOMEDCT_US:31387002", "UMLS:C0004099" ], "is_a": [ "HP:0002099" ], "is_obsolete": "", "replace_id": "" }, "HP:0012653": { "name": [ "status asthmaticus", "status asthmaticus" ], "alt_id": [], "def": "Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine.", "synonym": [ [ "acute severe asthma", "acute severe asthma" ] ], "xref": [ "MSH:D013224", "SNOMEDCT_US:708090002", "UMLS:C0038218" ], "is_a": [ "HP:0002099" ], "is_obsolete": "", "replace_id": "" }, "HP:0012654": { "name": [ "abnormal csf dopamine level", "abnormal csf dopamine level" ], "alt_id": [], "def": "Abnormal concentration of dopamine in the cerebrospinal fluid (CSF).", "synonym": [], "xref": [ "UMLS:C4022802" ], "is_a": [ "HP:0025454" ], "is_obsolete": "", "replace_id": "" }, "HP:0012655": { "name": [ "elevated csf dopamine level", "elevate csf dopamine level" ], "alt_id": [], "def": "Increased concentration of dopamine in the cerebrospinal fluid (CSF).", "synonym": [], "xref": [ "UMLS:C4022801" ], "is_a": [ "HP:0012654" ], "is_obsolete": "", "replace_id": "" }, "HP:0012656": { "name": [ "reduced csf dopamine level", "reduce csf dopamine level" ], "alt_id": [], "def": "Decreased concentration of dopamine in the cerebrospinal fluid (CSF).", "synonym": [], "xref": [ "UMLS:C4022800" ], "is_a": [ "HP:0012654" ], "is_obsolete": "", "replace_id": "" }, "HP:0012657": { "name": [ "abnormal brain positron emission tomography", "abnormal brain positron emission tomography" ], "alt_id": [], "def": "A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain.", "synonym": [ [ "abnormal brain pet scan", "abnormal brain pet scan" ] ], "xref": [ "UMLS:C4022799" ], "is_a": [ "HP:0410263" ], "is_obsolete": "", "replace_id": "" }, "HP:0012658": { "name": [ "abnormal brain fdg positron emission tomography", "abnormal brain fdg positron emission tomography" ], "alt_id": [], "def": "An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.", "synonym": [ [ "abnormal brain fdg pet scan", "abnormal brain fdg pet scan" ] ], "xref": [ "UMLS:C4022798" ], "is_a": [ "HP:0012657" ], "is_obsolete": "", "replace_id": "" }, "HP:0012659": { "name": [ "prefrontal hypometabolism in fdg pet", "prefrontal hypometabolism in fdg pet" ], "alt_id": [], "def": "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan.", "synonym": [], "xref": [ "UMLS:C4022797" ], "is_a": [ "HP:0012658" ], "is_obsolete": "", "replace_id": "" }, "HP:0012660": { "name": [ "thalamic hypometabolism in fdg pet", "thalamic hypometabolism in fdg pet" ], "alt_id": [], "def": "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan.", "synonym": [], "xref": [ "UMLS:C4022796" ], "is_a": [ "HP:0012658" ], "is_obsolete": "", "replace_id": "" }, "HP:0012661": { "name": [ "hypothalamic hypometabolism in fdg pet", "hypothalamic hypometabolism in fdg pet" ], "alt_id": [], "def": "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan.", "synonym": [], "xref": [ "UMLS:C4022795" ], "is_a": [ "HP:0012658" ], "is_obsolete": "", "replace_id": "" }, "HP:0012662": { "name": [ "parietal hypometabolism in fdg pet", "parietal hypometabolism in fdg pet" ], "alt_id": [], "def": "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.", "synonym": [], "xref": [ "UMLS:C4022794" ], "is_a": [ "HP:0012658" ], "is_obsolete": "", "replace_id": "" }, "HP:0012663": { "name": [ "mildly reduced ejection fraction", "mildly reduce ejection fraction" ], "alt_id": [], "def": "A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent.", "synonym": [], "xref": [ "UMLS:C4022793" ], "is_a": [ "HP:0012664" ], "is_obsolete": "", "replace_id": "" }, "HP:0012664": { "name": [ "reduced ejection fraction", "reduce ejection fraction" ], "alt_id": [], "def": "A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.", "synonym": [], "xref": [ "UMLS:C4022792" ], "is_a": [ "HP:0003116", "HP:0025169" ], "is_obsolete": "", "replace_id": "" }, "HP:0012665": { "name": [ "moderately reduced ejection fraction", "moderately reduce ejection fraction" ], "alt_id": [], "def": "A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle.", "synonym": [], "xref": [ "UMLS:C4022791" ], "is_a": [ "HP:0012664" ], "is_obsolete": "", "replace_id": "" }, "HP:0012666": { "name": [ "severely reduced ejection fraction", "severely reduce ejection fraction" ], "alt_id": [], "def": "A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.", "synonym": [], "xref": [ "UMLS:C4022790" ], "is_a": [ "HP:0012664" ], "is_obsolete": "", "replace_id": "" }, "HP:0012667": { "name": [ "regional left ventricular wall motion abnormality", "regional leave ventricular wall motion abnormality" ], "alt_id": [], "def": "An abnormal motion of a segment of the left ventricle during the cardiac cycle.", "synonym": [], "xref": [ "UMLS:C4022789" ], "is_a": [ "HP:0003116" ], "is_obsolete": "", "replace_id": "" }, "HP:0012668": { "name": [ "vasovagal syncope", "vasovagal syncope" ], "alt_id": [], "def": "", "synonym": [ [ "neurocardiogenic syncope", "neurocardiogenic syncope" ], [ "reflex syncope", "reflex syncope" ], [ "situational syncope", "situational syncope" ] ], "xref": [ "MSH:D013575", "MSH:D019462", "SNOMEDCT_US:234167006", "SNOMEDCT_US:398652001", "SNOMEDCT_US:398665005", "UMLS:C0042420", "UMLS:C0340854" ], "is_a": [ "HP:0001279" ], "is_obsolete": "", "replace_id": "" }, "HP:0012669": { "name": [ "carotid sinus syncope", "carotid sinus syncope" ], "alt_id": [], "def": "An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion.", "synonym": [], "xref": [ "MSH:D013575", "SNOMEDCT_US:51723007", "UMLS:C0221046" ], "is_a": [ "HP:0001279" ], "is_obsolete": "", "replace_id": "" }, "HP:0012670": { "name": [ "orthostatic syncope", "orthostatic syncope" ], "alt_id": [], "def": "Syncope following a quick change in position from lying down to standing.", "synonym": [], "xref": [ "UMLS:C0749201" ], "is_a": [ "HP:0001279" ], "is_obsolete": "", "replace_id": "" }, "HP:0012671": { "name": [ "abulia", "abulia" ], "alt_id": [], "def": "Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency.", "synonym": [ [ "aboulia", "aboulia" ] ], "xref": [ "UMLS:C0919974" ], "is_a": [ "HP:0000745" ], "is_obsolete": "", "replace_id": "" }, "HP:0012672": { "name": [ "akinetic mutism", "akinetic mutism" ], "alt_id": [], "def": "Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking.", "synonym": [], "xref": [ "MSH:D000405", "SNOMEDCT_US:53333005", "UMLS:C0001889" ], "is_a": [ "HP:0000745" ], "is_obsolete": "", "replace_id": "" }, "HP:0012673": { "name": [ "aplasia of the upper vagina", "aplasia of the upper vagina" ], "alt_id": [], "def": "A failure to develop of the upper vagina.", "synonym": [ [ "absent upper vagina", "absent upper vagina" ] ], "xref": [ "UMLS:C4022788" ], "is_a": [ "HP:0003250" ], "is_obsolete": "", "replace_id": "" }, "HP:0012674": { "name": [ "aplasia of the lower vagina", "aplasia of the low vagina" ], "alt_id": [], "def": "A failure to develop of the lower part of the vagina.", "synonym": [ [ "absent lower vagina", "absent low vagina" ], [ "agenesis of the lower vagina", "agenesis of the low vagina" ] ], "xref": [ "SNOMEDCT_US:253834007", "UMLS:C0431646" ], "is_a": [ "HP:0003250" ], "is_obsolete": "", "replace_id": "" }, "HP:0012675": { "name": [ "iron accumulation in brain", "iron accumulation in brain" ], "alt_id": [], "def": "An abnormal build up of iron (Fe) in brain tissue.", "synonym": [ [ "brain iron deposition", "brain iron deposition" ], [ "iron accumulation in brain", "iron accumulation in brain" ] ], "xref": [ "UMLS:C4021076" ], "is_a": [ "HP:0012443" ], "is_obsolete": "", "replace_id": "" }, "HP:0012676": { "name": [ "copper accumulation in brain", "copper accumulation in brain" ], "alt_id": [], "def": "An anomalous build up of copper (Cu) in the brain.", "synonym": [ [ "brain copper accumulation", "brain copper accumulation" ], [ "copper accumulation in brain", "copper accumulation in brain" ] ], "xref": [ "UMLS:C4022787" ], "is_a": [ "HP:0012443", "HP:0032243" ], "is_obsolete": "", "replace_id": "" }, "HP:0012677": { "name": [ "iron accumulation in globus pallidus", "iron accumulation in globus pallidus" ], "alt_id": [], "def": "An abnormal build up of iron (Fe) in the globus pallidus.", "synonym": [], "xref": [ "UMLS:C4022786" ], "is_a": [ "HP:0002453", "HP:0012675" ], "is_obsolete": "", "replace_id": "" }, "HP:0012678": { "name": [ "iron accumulation in substantia nigra", "iron accumulation in substantia nigra" ], "alt_id": [], "def": "An anomalous build up of iron (Fe) in the substantia nigra.", "synonym": [], "xref": [ "UMLS:C4022785" ], "is_a": [ "HP:0012675", "HP:0045007" ], "is_obsolete": "", "replace_id": "" }, "HP:0012679": { "name": [ "widened interpedicular distance", "widen interpedicular distance" ], "alt_id": [], "def": "An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.", "synonym": [], "xref": [ "UMLS:C4022784" ], "is_a": [ "HP:0008438" ], "is_obsolete": "", "replace_id": "" }, "HP:0012680": { "name": [ "abnormality of the pineal gland", "abnormality of the pineal gland" ], "alt_id": [], "def": "An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.", "synonym": [], "xref": [ "UMLS:C4022783" ], "is_a": [ "HP:0000818" ], "is_obsolete": "", "replace_id": "" }, "HP:0012681": { "name": [ "abnormal pineal morphology", "abnormal pineal morphology" ], "alt_id": [], "def": "A structural abnormality of the pineal gland.", "synonym": [ [ "abnormality of pineal morphology", "abnormality of pineal morphology" ] ], "xref": [ "UMLS:C4022782" ], "is_a": [ "HP:0012443", "HP:0012680" ], "is_obsolete": "", "replace_id": "" }, "HP:0012682": { "name": [ "pineal gland calcification", "pineal gland calcification" ], "alt_id": [], "def": "Accumulation of calcium salts in the pineal gland.", "synonym": [], "xref": [ "UMLS:C1398718" ], "is_a": [ "HP:0012681" ], "is_obsolete": "", "replace_id": "" }, "HP:0012683": { "name": [ "pineal cyst", "pineal cyst" ], "alt_id": [], "def": "A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.", "synonym": [], "xref": [ "SNOMEDCT_US:413099000", "UMLS:C1335411" ], "is_a": [ "HP:0012681" ], "is_obsolete": "", "replace_id": "" }, "HP:0012684": { "name": [ "abnormal pineal volume", "abnormal pineal volume" ], "alt_id": [], "def": "An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland.", "synonym": [], "xref": [ "UMLS:C4022781" ], "is_a": [ "HP:0012681" ], "is_obsolete": "", "replace_id": "" }, "HP:0012685": { "name": [ "decreased pineal volume", "decreased pineal volume" ], "alt_id": [], "def": "An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland.", "synonym": [], "xref": [ "UMLS:C4022780" ], "is_a": [ "HP:0012684" ], "is_obsolete": "", "replace_id": "" }, "HP:0012686": { "name": [ "increased pineal volume", "increase pineal volume" ], "alt_id": [], "def": "An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland.", "synonym": [], "xref": [ "UMLS:C4022779" ], "is_a": [ "HP:0012684" ], "is_obsolete": "", "replace_id": "" }, "HP:0012687": { "name": [ "agenesis of pineal gland", "agenesis of pineal gland" ], "alt_id": [], "def": "Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.", "synonym": [], "xref": [ "UMLS:C3553078" ], "is_a": [ "HP:0002977", "HP:0012681" ], "is_obsolete": "", "replace_id": "" }, "HP:0012688": { "name": [ "abnormality of pineal physiology", "abnormality of pineal physiology" ], "alt_id": [], "def": "A functional abnormality of the pineal gland.", "synonym": [], "xref": [ "UMLS:C4022778" ], "is_a": [ "HP:0012638", "HP:0012680" ], "is_obsolete": "", "replace_id": "" }, "HP:0012689": { "name": [ "abnormal pineal melatonin secretion", "abnormal pineal melatonin secretion" ], "alt_id": [], "def": "An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland.", "synonym": [], "xref": [ "UMLS:C4022777" ], "is_a": [ "HP:0012688" ], "is_obsolete": "", "replace_id": "" }, "HP:0012690": { "name": [ "t2 hypointense thalamus", "t2 hypointense thalamus" ], "alt_id": [], "def": "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus.", "synonym": [], "xref": [ "UMLS:C4022776" ], "is_a": [ "HP:0012696" ], "is_obsolete": "", "replace_id": "" }, "HP:0012691": { "name": [ "focal t2 hypointense thalamic lesion", "focal t2 hypointense thalamic lesion" ], "alt_id": [], "def": "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus.", "synonym": [], "xref": [ "UMLS:C4022775" ], "is_a": [ "HP:0012696" ], "is_obsolete": "", "replace_id": "" }, "HP:0012692": { "name": [ "focal t2 hyperintense thalamic lesion", "focal t2 hyperintense thalamic lesion" ], "alt_id": [], "def": "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.", "synonym": [], "xref": [ "UMLS:C4022774" ], "is_a": [ "HP:0012696" ], "is_obsolete": "", "replace_id": "" }, "HP:0012693": { "name": [ "abnormal thalamic size", "abnormal thalamic size" ], "alt_id": [], "def": "Deviation from the normal range of size of the thalamus.", "synonym": [], "xref": [ "UMLS:C4022773" ], "is_a": [ "HP:0010663" ], "is_obsolete": "", "replace_id": "" }, "HP:0012694": { "name": [ "enlarged thalamic volume", "enlarged thalamic volume" ], "alt_id": [], "def": "An increase in the quantity of space occupied by the thalamus.", "synonym": [], "xref": [ "UMLS:C4022772" ], "is_a": [ "HP:0012693" ], "is_obsolete": "", "replace_id": "" }, "HP:0012695": { "name": [ "decreased thalamic volume", "decreased thalamic volume" ], "alt_id": [], "def": "A reduction in the quantity of space occupied by the thalamus.", "synonym": [], "xref": [ "UMLS:C4022771" ], "is_a": [ "HP:0012693" ], "is_obsolete": "", "replace_id": "" }, "HP:0012696": { "name": [ "abnormal thalamic mri signal intensity", "abnormal thalamic mri signal intensity" ], "alt_id": [], "def": "A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.", "synonym": [], "xref": [ "UMLS:C4022770" ], "is_a": [ "HP:0010663" ], "is_obsolete": "", "replace_id": "" }, "HP:0012697": { "name": [ "small basal ganglia", "small basal ganglion" ], "alt_id": [], "def": "Decreased size of the basal ganglia.", "synonym": [], "xref": [ "UMLS:C4022769" ], "is_a": [ "HP:0002134" ], "is_obsolete": "", "replace_id": "" }, "HP:0012698": { "name": [ "cerebellar gliosis", "cerebellar gliosis" ], "alt_id": [], "def": "Focal proliferation of glial cells in the cerebellum.", "synonym": [], "xref": [ "UMLS:C4022768" ], "is_a": [ "HP:0001317", "HP:0002171" ], "is_obsolete": "", "replace_id": "" }, "HP:0012699": { "name": [ "anomaly of lower limb diaphyses", "anomaly of low limb diaphysis" ], "alt_id": [], "def": "A structural abnormality of a diaphysis of the leg.", "synonym": [ [ "anomaly of shaft of long bone of lower limb", "anomaly of shaft of long bone of low limb" ] ], "xref": [ "UMLS:C4022767" ], "is_a": [ "HP:0000940" ], "is_obsolete": "", "replace_id": "" }, "HP:0012700": { "name": [ "abnormal large intestine physiology", "abnormal large intestine physiology" ], "alt_id": [], "def": "A functional anomaly of the large intestine.", "synonym": [], "xref": [ "UMLS:C4022766" ], "is_a": [ "HP:0025032" ], "is_obsolete": "", "replace_id": "" }, "HP:0012701": { "name": [ "bowel urgency", "bowel urgency" ], "alt_id": [], "def": "A sudden, irresistible need to have a bowel movement.", "synonym": [ [ "faecal urgency", "faecal urgency" ], [ "fecal urgency", "fecal urgency" ] ], "xref": [ "SNOMEDCT_US:71820002", "UMLS:C0426636" ], "is_a": [ "HP:0012700" ], "is_obsolete": "", "replace_id": "" }, "HP:0012702": { "name": [ "tenesmus", "tenesmus" ], "alt_id": [], "def": "A repeated, painful urge to defecate without excreting stool.", "synonym": [], "xref": [ "SNOMEDCT_US:267053000", "SNOMEDCT_US:6548007", "UMLS:C0232726" ], "is_a": [ "HP:0012700" ], "is_obsolete": "", "replace_id": "" }, "HP:0012703": { "name": [ "abnormal subarachnoid space morphology", "abnormal subarachnoid space morphology" ], "alt_id": [], "def": "Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.", "synonym": [ [ "abnormality of the subarachnoid space", "abnormality of the subarachnoid space" ] ], "xref": [ "UMLS:C4022765" ], "is_a": [ "HP:0002011" ], "is_obsolete": "", "replace_id": "" }, "HP:0012704": { "name": [ "widened subarachnoid space", "widen subarachnoid space" ], "alt_id": [], "def": "An increase in size of the anatomic space between the arachnoid membrane and pia mater.", "synonym": [ [ "enlarged subarachnoid space", "enlarge subarachnoid space" ], [ "widened subarachnoid spaces", "widen subarachnoid space" ] ], "xref": [ "UMLS:C1846151" ], "is_a": [ "HP:0012703" ], "is_obsolete": "", "replace_id": "" }, "HP:0012705": { "name": [ "abnormal metabolic brain imaging by mrs", "abnormal metabolic brain imaging by mr" ], "alt_id": [], "def": "An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).", "synonym": [], "xref": [ "UMLS:C4022764" ], "is_a": [ "HP:0410263" ], "is_obsolete": "", "replace_id": "" }, "HP:0012706": { "name": [ "elevated brain choline level by mrs", "elevate brain choline level by mr" ], "alt_id": [], "def": "An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).", "synonym": [], "xref": [ "UMLS:C4022763" ], "is_a": [ "HP:0025047" ], "is_obsolete": "", "replace_id": "" }, "HP:0012707": { "name": [ "elevated brain lactate level by mrs", "elevate brain lactate level by mr" ], "alt_id": [], "def": "An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).", "synonym": [], "xref": [ "UMLS:C4022762" ], "is_a": [ "HP:0025045" ], "is_obsolete": "", "replace_id": "" }, "HP:0012708": { "name": [ "reduced brain n - acetyl aspartate level by mrs", "reduce brain n - acetyl aspartate level by mr" ], "alt_id": [], "def": "A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).", "synonym": [ [ "reduced brain n - acetyl aspartate level by magnetic resonance spectroscopy", "reduce brain n - acetyl aspartate level by magnetic resonance spectroscopy" ] ], "xref": [ "UMLS:C4022761" ], "is_a": [ "HP:0025052" ], "is_obsolete": "", "replace_id": "" }, "HP:0012709": { "name": [ "abnormal brain choline / creatine ratio by mrs", "abnormal brain choline / creatine ratio by mr" ], "alt_id": [], "def": "A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS).", "synonym": [], "xref": [ "UMLS:C4022760" ], "is_a": [ "HP:0012705" ], "is_obsolete": "", "replace_id": "" }, "HP:0012710": { "name": [ "ingrown nail", "ingrown nail" ], "alt_id": [], "def": "Excessive growth of a nail laterally into the nail fold.", "synonym": [ [ "ingrown nail", "ingrown nail" ] ], "xref": [ "MSH:D009263", "SNOMEDCT_US:400097005", "SNOMEDCT_US:400200009", "UMLS:C0027343" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0012711": { "name": [ "delayed ossification of vertebral epiphysis", "delay ossification of vertebral epiphysis" ], "alt_id": [], "def": "A delay in the process of formation and maturation of the epiphysis of one or more vertebrae.", "synonym": [ [ "delayed maturation of the end part of the vertebral bone", "delay maturation of the end part of the vertebral bone" ] ], "xref": [ "UMLS:C4022759", "UMLS:C4280312" ], "is_a": [ "HP:0100569" ], "is_obsolete": "", "replace_id": "" }, "HP:0012712": { "name": [ "mild hearing impairment", "mild hearing impairment" ], "alt_id": [], "def": "The presence of a mild form of hearing impairment.", "synonym": [ [ "mild hearing impairment", "mild hearing impairment" ] ], "xref": [ "UMLS:C4022758" ], "is_a": [ "HP:0000365" ], "is_obsolete": "", "replace_id": "" }, "HP:0012713": { "name": [ "moderate hearing impairment", "moderate hearing impairment" ], "alt_id": [], "def": "The presence of a moderate form of hearing impairment.", "synonym": [ [ "moderate hearing impairment", "moderate hearing impairment" ] ], "xref": [ "UMLS:C4022757" ], "is_a": [ "HP:0000365" ], "is_obsolete": "", "replace_id": "" }, "HP:0012714": { "name": [ "severe hearing impairment", "severe hearing impairment" ], "alt_id": [], "def": "A severe form of hearing impairment.", "synonym": [ [ "severe deafness", "severe deafness" ], [ "severe hearing impairment", "severe hearing impairment" ], [ "severe hearing loss", "severe hearing loss" ] ], "xref": [ "SNOMEDCT_US:3561000119106", "UMLS:C3874334" ], "is_a": [ "HP:0000365" ], "is_obsolete": "", "replace_id": "" }, "HP:0012715": { "name": [ "profound hearing impairment", "profound hear impairment" ], "alt_id": [], "def": "A profound (essentially complete) form of hearing impairment.", "synonym": [ [ "profound hearing impairment", "profound hear impairment" ] ], "xref": [ "UMLS:C4022756" ], "is_a": [ "HP:0000365" ], "is_obsolete": "", "replace_id": "" }, "HP:0012716": { "name": [ "moderate conductive hearing impairment", "moderate conductive hearing impairment" ], "alt_id": [], "def": "The presence of a moderate form of conductive hearing impairment.", "synonym": [ [ "conductive hearing loss , moderate", "conductive hearing loss , moderate" ] ], "xref": [ "UMLS:C4021075" ], "is_a": [ "HP:0000405", "HP:0012712", "HP:0012713" ], "is_obsolete": "", "replace_id": "" }, "HP:0012717": { "name": [ "severe conductive hearing impairment", "severe conductive hearing impairment" ], "alt_id": [], "def": "A severe form of conductive hearing impairment.", "synonym": [ [ "conductive hearing loss , severe", "conductive hearing loss , severe" ] ], "xref": [ "UMLS:C4021074" ], "is_a": [ "HP:0000405", "HP:0012712", "HP:0012714" ], "is_obsolete": "", "replace_id": "" }, "HP:0012718": { "name": [ "morphological abnormality of the gastrointestinal tract", "morphological abnormality of the gastrointestinal tract" ], "alt_id": [], "def": "Abnormal structure of the gastrointestinal tract.", "synonym": [ [ "abnormal shape of the digestive system", "abnormal shape of the digestive system" ], [ "morphological abnormality of the gi tract", "morphological abnormality of the gi tract" ], [ "morphological anomaly of the digestive system", "morphological anomaly of the digestive system" ] ], "xref": [ "UMLS:C4021073" ], "is_a": [ "HP:0011024", "HP:0025033" ], "is_obsolete": "", "replace_id": "" }, "HP:0012719": { "name": [ "functional abnormality of the gastrointestinal tract", "functional abnormality of the gastrointestinal tract" ], "alt_id": [], "def": "Abnormal functionality of the gastrointestinal tract.", "synonym": [ [ "functional abnormality of the gi tract", "functional abnormality of the gi tract" ], [ "gi dysfunction", "gi dysfunction" ] ], "xref": [ "UMLS:C4022755" ], "is_a": [ "HP:0011024", "HP:0025032" ], "is_obsolete": "", "replace_id": "" }, "HP:0012720": { "name": [ "neoplasm of the nose", "neoplasm of the nose" ], "alt_id": [ "HP:0100637" ], "def": "Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.", "synonym": [ [ "nasal neoplasm", "nasal neoplasm" ], [ "nasal tumor", "nasal tumor" ], [ "nasal tumour", "nasal tumour" ], [ "neoplasia of the nose", "neoplasia of the nose" ], [ "nose cancer", "nose cancer" ], [ "tumor of the nose", "tumor of the nose" ], [ "tumour of the nose", "tumour of the nose" ] ], "xref": [ "MSH:D009669", "NCIT:C3262", "SNOMEDCT_US:126669004", "UMLS:C0028433", "UMLS:C0751394" ], "is_a": [ "HP:0012289", "HP:0100630" ], "is_obsolete": "", "replace_id": "" }, "HP:0012721": { "name": [ "venous malformation", "venous malformation" ], "alt_id": [], "def": "A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.", "synonym": [ [ "venous malformations", "venous malformation" ] ], "xref": [ "SNOMEDCT_US:297222002", "UMLS:C2937220" ], "is_a": [ "HP:0002624" ], "is_obsolete": "", "replace_id": "" }, "HP:0012722": { "name": [ "heart block", "heart block" ], "alt_id": [], "def": "Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.", "synonym": [], "xref": [ "MSH:D006327", "SNOMEDCT_US:233916004", "UMLS:C0018794" ], "is_a": [ "HP:0031546" ], "is_obsolete": "", "replace_id": "" }, "HP:0012723": { "name": [ "sinoatrial block", "sinoatrial block" ], "alt_id": [], "def": "Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria.", "synonym": [], "xref": [ "Fyler:7014", "MSH:D012848", "SNOMEDCT_US:65778007", "UMLS:C0037188" ], "is_a": [ "HP:0011702", "HP:0012722" ], "is_obsolete": "", "replace_id": "" }, "HP:0012724": { "name": [ "upper eyelid edema", "upper eyelid edema" ], "alt_id": [], "def": "Edema in the region of the upper eyelid.", "synonym": [ [ "cellulitis of upper eyelid", "cellulitis of upper eyelid" ], [ "fullness of upper eyelid", "fullness of upper eyelid" ], [ "puffiness of upper eyelid", "puffiness of upper eyelid" ], [ "swelling of upper eyelid", "swell of upper eyelid" ], [ "upper eyelid oedema", "upper eyelid oedema" ] ], "xref": [ "SNOMEDCT_US:700339006", "UMLS:C2025988", "UMLS:C3839407" ], "is_a": [ "HP:0100540" ], "is_obsolete": "", "replace_id": "" }, "HP:0012725": { "name": [ "cutaneous syndactyly", "cutaneous syndactyly" ], "alt_id": [], "def": "A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.", "synonym": [ [ "cutaneous syndactyly of digits", "cutaneous syndactyly of digit" ], [ "syndactyly , cutaneous", "syndactyly , cutaneous" ] ], "xref": [ "UMLS:C1861921" ], "is_a": [ "HP:0001159" ], "is_obsolete": "", "replace_id": "" }, "HP:0012726": { "name": [ "episodic hypokalemia", "episodic hypokalemia" ], "alt_id": [], "def": "An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes.", "synonym": [ [ "recurrent low potassium", "recurrent low potassium" ] ], "xref": [ "UMLS:C4022754" ], "is_a": [ "HP:0002900" ], "is_obsolete": "", "replace_id": "" }, "HP:0012727": { "name": [ "thoracic aortic aneurysm", "thoracic aortic aneurysm" ], "alt_id": [], "def": "An abnormal localized widening (dilatation) of the thoracic aorta.", "synonym": [ [ "dilatation of the thoracic aorta", "dilatation of the thoracic aorta" ] ], "xref": [ "MSH:D017545", "SNOMEDCT_US:433068007", "UMLS:C0162872" ], "is_a": [ "HP:0004942" ], "is_obsolete": "", "replace_id": "" }, "HP:0012728": { "name": [ "fusiform descending thoracic aortic aneurysm", "fusiform descend thoracic aortic aneurysm" ], "alt_id": [], "def": "A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall", "synonym": [ [ "dilatation of the fusiform descending thoracic aorta", "dilatation of the fusiform descend thoracic aorta" ] ], "xref": [ "UMLS:C4022753" ], "is_a": [ "HP:0004959" ], "is_obsolete": "", "replace_id": "" }, "HP:0012729": { "name": [ "saccular descending thoracic aortic aneurysm", "saccular descend thoracic aortic aneurysm" ], "alt_id": [], "def": "An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall", "synonym": [ [ "dilatation of the saccular descending thoracic aorta", "dilatation of the saccular descending thoracic aorta" ] ], "xref": [ "UMLS:C4022752" ], "is_a": [ "HP:0004959" ], "is_obsolete": "", "replace_id": "" }, "HP:0012730": { "name": [ "aglossia", "aglossia" ], "alt_id": [], "def": "Absence of the tongue owing to a developmental abnormality.", "synonym": [ [ "absence of tongue", "absence of tongue" ], [ "failure of development of tongue", "failure of development of tongue" ], [ "missing tongue", "miss tongue" ] ], "xref": [ "SNOMEDCT_US:74788000", "UMLS:C0158663" ], "is_a": [ "HP:0010295" ], "is_obsolete": "", "replace_id": "" }, "HP:0012731": { "name": [ "ectopic anterior pituitary gland", "ectopic anterior pituitary gland" ], "alt_id": [ "HP:0011765" ], "def": "Abnormal anatomic location of the anterior pituitary gland.", "synonym": [], "xref": [ "UMLS:C4022751" ], "is_a": [ "HP:0011747" ], "is_obsolete": "", "replace_id": "" }, "HP:0012732": { "name": [ "anorectal anomaly", "anorectal anomaly" ], "alt_id": [], "def": "An abnormality of the anus or rectum.", "synonym": [], "xref": [ "MSH:D000071056", "SNOMEDCT_US:33225004", "UMLS:C3495676" ], "is_a": [ "HP:0012718" ], "is_obsolete": "", "replace_id": "" }, "HP:0012733": { "name": [ "macule", "macule" ], "alt_id": [], "def": "A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.", "synonym": [ [ "flat , discolored area of skin", "flat , discolored area of skin" ], [ "flat , discoloured area of skin", "flat , discoloured area of skin" ] ], "xref": [ "SNOMEDCT_US:112629002", "UMLS:C0332573" ], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0012734": { "name": [ "ketotic hypoglycemia", "ketotic hypoglycemia" ], "alt_id": [], "def": "Low blood glucose is accompanied by elevated levels of ketone bodies in the body.", "synonym": [ [ "ketotic low blood sugar", "ketotic low blood sugar" ] ], "xref": [ "SNOMEDCT_US:20825002", "UMLS:C0271713" ], "is_a": [ "HP:0001943" ], "is_obsolete": "", "replace_id": "" }, "HP:0012735": { "name": [ "cough", "cough" ], "alt_id": [], "def": "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.", "synonym": [ [ "cough", "cough" ], [ "coughing", "cough" ] ], "xref": [ "MSH:D003371", "SNOMEDCT_US:263731006", "SNOMEDCT_US:272039006", "SNOMEDCT_US:49727002", "UMLS:C0010200" ], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0012736": { "name": [ "profound global developmental delay", "profound global developmental delay" ], "alt_id": [], "def": "A profound delay in the achievement of motor or mental milestones in the domains of development of a child.", "synonym": [ [ "global developmental delay , profound", "global developmental delay , profound" ], [ "psychomotor retardation , profound", "psychomotor retardation , profound" ] ], "xref": [ "UMLS:C1855773", "UMLS:C3553450" ], "is_a": [ "HP:0001263" ], "is_obsolete": "", "replace_id": "" }, "HP:0012737": { "name": [ "small intestinal polyp", "small intestinal polyp" ], "alt_id": [], "def": "A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.", "synonym": [], "xref": [ "SNOMEDCT_US:399723004", "UMLS:C1302645" ], "is_a": [ "HP:0005266", "HP:0100833" ], "is_obsolete": "", "replace_id": "" }, "HP:0012738": { "name": [ "agenesis of canine", "agenesis of canine" ], "alt_id": [], "def": "Agenesis of canine tooth.", "synonym": [ [ "absence of canine", "absence of canine" ], [ "absence of eye tooth", "absence of eye tooth" ], [ "absent canines", "absent canine" ], [ "failure of development of canine", "failure of development of canine" ], [ "failure of development of eye tooth", "failure of development of eye tooth" ], [ "missing canine", "miss canine" ], [ "missing eye tooth", "miss eye tooth" ] ], "xref": [ "UMLS:C4021072", "UMLS:C4280311" ], "is_a": [ "HP:0001592", "HP:0011078" ], "is_obsolete": "", "replace_id": "" }, "HP:0012739": { "name": [ "agenesis of the small intestine", "agenesis of the small intestine" ], "alt_id": [], "def": "Failure to develop of the small intestine.", "synonym": [ [ "small bowel agenesis", "small bowel agenesis" ], [ "undeveloped small intestine", "undeveloped small intestine" ] ], "xref": [ "UMLS:C4021071" ], "is_a": [ "HP:0002244" ], "is_obsolete": "", "replace_id": "" }, "HP:0012740": { "name": [ "papilloma", "papilloma" ], "alt_id": [], "def": "A tumor of the skin or mucous membrane with finger-like projections.", "synonym": [], "xref": [ "MSH:D010212", "SNOMEDCT_US:23730008", "SNOMEDCT_US:711329002", "UMLS:C0030354" ], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0012741": { "name": [ "unilateral cryptorchidism", "unilateral cryptorchidism" ], "alt_id": [], "def": "Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.", "synonym": [ [ "cryptorchidism , unilateral", "cryptorchidism , unilateral" ] ], "xref": [ "MSH:D003456", "SNOMEDCT_US:268227001", "UMLS:C0431664" ], "is_a": [ "HP:0000028" ], "is_obsolete": "", "replace_id": "" }, "HP:0012742": { "name": [ "thin fingernail", "thin fingernail" ], "alt_id": [ "HP:0040037" ], "def": "Fingernail that appears thin when viewed on end.", "synonym": [ [ "thin fingernail", "thin fingernail" ] ], "xref": [ "UMLS:C4022750" ], "is_a": [ "HP:0001231", "HP:0001816" ], "is_obsolete": "", "replace_id": "" }, "HP:0012743": { "name": [ "abdominal obesity", "abdominal obesity" ], "alt_id": [], "def": "Excessive fat around the stomach and abdomen.", "synonym": [ [ "abdominal obesity", "abdominal obesity" ], [ "central obesity", "central obesity" ] ], "xref": [ "MSH:D056128", "SNOMEDCT_US:248311001", "UMLS:C0311277" ], "is_a": [ "HP:0001513" ], "is_obsolete": "", "replace_id": "" }, "HP:0012744": { "name": [ "femoral aplasia", "femoral aplasia" ], "alt_id": [], "def": "Failure of the femur to develop.", "synonym": [ [ "absent femur", "absent femur" ], [ "absent thighbone", "absent thighbone" ], [ "aplasia of the femur", "aplasia of the femur" ] ], "xref": [ "SNOMEDCT_US:47276000", "UMLS:C0265629" ], "is_a": [ "HP:0005613" ], "is_obsolete": "", "replace_id": "" }, "HP:0012745": { "name": [ "short palpebral fissure", "short palpebral fissure" ], "alt_id": [], "def": "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.", "synonym": [ [ "decreased height of palpebral fissure", "decreased height of palpebral fissure" ], [ "short opening between the eyelids", "short opening between the eyelid" ], [ "short palpebral fissures", "short palpebral fissure" ] ], "xref": [ "SNOMEDCT_US:246802000", "UMLS:C0423112" ], "is_a": [ "HP:0200007" ], "is_obsolete": "", "replace_id": "" }, "HP:0012746": { "name": [ "thin toenail", "thin toenail" ], "alt_id": [ "HP:0040038" ], "def": "Toenail that appears thin when viewed on end.", "synonym": [ [ "thin toenail", "thin toenail" ], [ "thin toenails", "thin toenail" ] ], "xref": [ "UMLS:C3554113" ], "is_a": [ "HP:0001816", "HP:0008388" ], "is_obsolete": "", "replace_id": "" }, "HP:0012747": { "name": [ "abnormal brainstem mri signal intensity", "abnormal brainstem mri signal intensity" ], "alt_id": [], "def": "A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.", "synonym": [], "xref": [ "UMLS:C4022749" ], "is_a": [ "HP:0002363" ], "is_obsolete": "", "replace_id": "" }, "HP:0012748": { "name": [ "focal t2 hyperintense brainstem lesion", "focal t2 hyperintense brainstem lesion" ], "alt_id": [], "def": "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.", "synonym": [], "xref": [ "UMLS:C4022748" ], "is_a": [ "HP:0012747" ], "is_obsolete": "", "replace_id": "" }, "HP:0012749": { "name": [ "focal t2 hypointense brainstem lesion", "focal t2 hypointense brainstem lesion" ], "alt_id": [], "def": "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem.", "synonym": [], "xref": [ "UMLS:C4022747" ], "is_a": [ "HP:0012747" ], "is_obsolete": "", "replace_id": "" }, "HP:0012750": { "name": [ "t2 hypointense brainstem", "t2 hypointense brainstem" ], "alt_id": [], "def": "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem.", "synonym": [], "xref": [ "UMLS:C4022746" ], "is_a": [ "HP:0012747" ], "is_obsolete": "", "replace_id": "" }, "HP:0012751": { "name": [ "abnormal basal ganglia mri signal intensity", "abnormal basal ganglion mri signal intensity" ], "alt_id": [], "def": "A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.", "synonym": [], "xref": [ "UMLS:C4022745" ], "is_a": [ "HP:0002134" ], "is_obsolete": "", "replace_id": "" }, "HP:0012752": { "name": [ "focal t2 hypointense basal ganglia lesion", "focal t2 hypointense basal ganglion lesion" ], "alt_id": [], "def": "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia.", "synonym": [], "xref": [ "UMLS:C4022744" ], "is_a": [ "HP:0012751" ], "is_obsolete": "", "replace_id": "" }, "HP:0012753": { "name": [ "t2 hypointense basal ganglia", "t2 hypointense basal ganglion" ], "alt_id": [], "def": "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia.", "synonym": [], "xref": [ "UMLS:C4022743" ], "is_a": [ "HP:0012751" ], "is_obsolete": "", "replace_id": "" }, "HP:0012754": { "name": [ "cns hypermyelination", "cns hypermyelination" ], "alt_id": [], "def": "Increased amount of myelin in the central nervous system.", "synonym": [], "xref": [ "UMLS:C4022742" ], "is_a": [ "HP:0011400" ], "is_obsolete": "", "replace_id": "" }, "HP:0012755": { "name": [ "enlarged brainstem", "enlarge brainstem" ], "alt_id": [], "def": "Abnormal increase in size of the brainstem.", "synonym": [], "xref": [ "UMLS:C4022741" ], "is_a": [ "HP:0002363" ], "is_obsolete": "", "replace_id": "" }, "HP:0012756": { "name": [ "csf polymorphonuclear pleocytosis", "csf polymorphonuclear pleocytosis" ], "alt_id": [], "def": "An increased polymorphonuclear cell count in the cerebrospinal fluid.", "synonym": [], "xref": [ "UMLS:C4022740" ], "is_a": [ "HP:0012229" ], "is_obsolete": "", "replace_id": "" }, "HP:0012757": { "name": [ "abnormal neuron morphology", "abnormal neuron morphology" ], "alt_id": [], "def": "A structural anomaly of a neuron.", "synonym": [ [ "abnormal neuron shape", "abnormal neuron shape" ], [ "abnormal neuronal morphology", "abnormal neuronal morphology" ] ], "xref": [ "UMLS:C4022739" ], "is_a": [ "HP:0012639" ], "is_obsolete": "", "replace_id": "" }, "HP:0012758": { "name": [ "neurodevelopmental delay", "neurodevelopmental delay" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022738" ], "is_a": [ "HP:0012759" ], "is_obsolete": "", "replace_id": "" }, "HP:0012759": { "name": [ "neurodevelopmental abnormality", "neurodevelopmental abnormality" ], "alt_id": [], "def": "A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.", "synonym": [], "xref": [ "UMLS:C4022737" ], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0012760": { "name": [ "impaired social reciprocity", "impaired social reciprocity" ], "alt_id": [], "def": "A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first.", "synonym": [], "xref": [ "UMLS:C4022736" ], "is_a": [ "HP:0012433" ], "is_obsolete": "", "replace_id": "" }, "HP:0012761": { "name": [ "absent mastoid", "absent mastoid" ], "alt_id": [ "HP:0200110" ], "def": "A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent.", "synonym": [ [ "absent mastoids", "absent mastoid" ], [ "failure of development of mastoid", "failure of development of mastoid" ], [ "mastoid agenesis", "mastoid agenesis" ] ], "xref": [ "UMLS:C4021070" ], "is_a": [ "HP:0000264" ], "is_obsolete": "", "replace_id": "" }, "HP:0012762": { "name": [ "cerebral white matter atrophy", "cerebral white matter atrophy" ], "alt_id": [], "def": "The presence of atrophy (wasting) of the cerebral white matter.", "synonym": [], "xref": [ "UMLS:C4022735" ], "is_a": [ "HP:0002500" ], "is_obsolete": "", "replace_id": "" }, "HP:0012763": { "name": [ "paroxysmal dyspnea", "paroxysmal dyspnea" ], "alt_id": [], "def": "A sudden attack of dyspnea that occurs while the affected person is at rest.", "synonym": [ [ "paroxysmal dyspnoea", "paroxysmal dyspnoea" ] ], "xref": [ "MSH:D004418", "SNOMEDCT_US:59265000", "UMLS:C0013405" ], "is_a": [ "HP:0002094" ], "is_obsolete": "", "replace_id": "" }, "HP:0012764": { "name": [ "orthopnea", "orthopnea" ], "alt_id": [], "def": "A sensation of breathlessness in the recumbent position, relieved by sitting or standing.", "synonym": [], "xref": [ "SNOMEDCT_US:62744007", "UMLS:C0085619" ], "is_a": [ "HP:0002094" ], "is_obsolete": "", "replace_id": "" }, "HP:0012765": { "name": [ "widened cerebellar subarachnoid space", "widen cerebellar subarachnoid space" ], "alt_id": [], "def": "An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum.", "synonym": [], "xref": [ "UMLS:C4022734" ], "is_a": [ "HP:0012704" ], "is_obsolete": "", "replace_id": "" }, "HP:0012766": { "name": [ "widened cerebral subarachnoid space", "widen cerebral subarachnoid space" ], "alt_id": [], "def": "An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.", "synonym": [], "xref": [ "UMLS:C4022733" ], "is_a": [ "HP:0012704" ], "is_obsolete": "", "replace_id": "" }, "HP:0012767": { "name": [ "abnormal placental size", "abnormal placental size" ], "alt_id": [], "def": "A deviation from normal size of the placenta.", "synonym": [], "xref": [ "UMLS:C4022732" ], "is_a": [ "HP:0100767" ], "is_obsolete": "", "replace_id": "" }, "HP:0012768": { "name": [ "neonatal asphyxia", "neonatal asphyxia" ], "alt_id": [], "def": "Respiratory failure in the newborn.", "synonym": [ [ "asphyxia neonatorum", "asphyxia neonatorum" ] ], "xref": [ "MSH:D001238", "SNOMEDCT_US:28314004", "SNOMEDCT_US:413654009", "UMLS:C0004045" ], "is_a": [ "HP:0002643" ], "is_obsolete": "", "replace_id": "" }, "HP:0012769": { "name": [ "abnormal arm span", "abnormal arm span" ], "alt_id": [], "def": "A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)", "synonym": [ [ "abnormal arm span", "abnormal arm span" ] ], "xref": [ "UMLS:C4022731" ], "is_a": [ "HP:0002817" ], "is_obsolete": "", "replace_id": "" }, "HP:0012770": { "name": [ "reduced arm span", "reduce arm span" ], "alt_id": [], "def": "Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).", "synonym": [ [ "reduced arm span", "reduce arm span" ] ], "xref": [ "UMLS:C4022730" ], "is_a": [ "HP:0012769" ], "is_obsolete": "", "replace_id": "" }, "HP:0012771": { "name": [ "increased arm span", "increase arm span" ], "alt_id": [], "def": "Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).", "synonym": [ [ "increased arm span", "increase arm span" ] ], "xref": [ "UMLS:C4022729" ], "is_a": [ "HP:0012769" ], "is_obsolete": "", "replace_id": "" }, "HP:0012772": { "name": [ "abnormal upper to lower segment ratio", "abnormal upper to lower segment ratio" ], "alt_id": [], "def": "A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.", "synonym": [], "xref": [ "UMLS:C4022728" ], "is_a": [ "HP:0000002" ], "is_obsolete": "", "replace_id": "" }, "HP:0012773": { "name": [ "reduced upper to lower segment ratio", "reduce upper to lower segment ratio" ], "alt_id": [], "def": "Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present.", "synonym": [], "xref": [ "UMLS:C1836996" ], "is_a": [ "HP:0012772" ], "is_obsolete": "", "replace_id": "" }, "HP:0012774": { "name": [ "increased upper to lower segment ratio", "increase upper to lower segment ratio" ], "alt_id": [], "def": "Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.", "synonym": [], "xref": [ "UMLS:C1844571" ], "is_a": [ "HP:0012772" ], "is_obsolete": "", "replace_id": "" }, "HP:0012775": { "name": [ "stellate iris", "stellate iris" ], "alt_id": [], "def": "A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel.", "synonym": [], "xref": [ "UMLS:C4022727" ], "is_a": [ "HP:0008034" ], "is_obsolete": "", "replace_id": "" }, "HP:0012776": { "name": [ "abnormal ciliary body morphology", "abnormal ciliary body morphology" ], "alt_id": [], "def": "A structural anomaly of the ciliary body.", "synonym": [ [ "abnormality of the ciliary body", "abnormality of the ciliary body" ] ], "xref": [ "UMLS:C4022726" ], "is_a": [ "HP:0000553" ], "is_obsolete": "", "replace_id": "" }, "HP:0012777": { "name": [ "retinal neoplasm", "retinal neoplasm" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the retina.", "synonym": [], "xref": [ "MSH:D019572", "NCIT:C3262", "SNOMEDCT_US:127002001", "UMLS:C0524801" ], "is_a": [ "HP:0000479", "HP:0100012" ], "is_obsolete": "", "replace_id": "" }, "HP:0012778": { "name": [ "retinal astrocytic hamartoma", "retinal astrocytic hamartoma" ], "alt_id": [], "def": "A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.", "synonym": [], "xref": [ "UMLS:C4022725" ], "is_a": [ "HP:0009594" ], "is_obsolete": "", "replace_id": "" }, "HP:0012779": { "name": [ "transient hearing impairment", "transient hearing impairment" ], "alt_id": [], "def": "Hearing loss that occurs acutely and resolves completely.", "synonym": [], "xref": [ "UMLS:C4022724" ], "is_a": [ "HP:0000365" ], "is_obsolete": "", "replace_id": "" }, "HP:0012780": { "name": [ "neoplasm of the ear", "neoplasm of the ear" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the ear.", "synonym": [ [ "ear tumor", "ear tumor" ], [ "ear tumour", "ear tumour" ] ], "xref": [ "MSH:D004428", "NCIT:C3262", "SNOMEDCT_US:363228008", "UMLS:C0013449" ], "is_a": [ "HP:0011793", "HP:0031703" ], "is_obsolete": "", "replace_id": "" }, "HP:0012781": { "name": [ "mid - frequency hearing loss", "mid - frequency hearing loss" ], "alt_id": [], "def": "A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).", "synonym": [], "xref": [ "UMLS:C4022723" ], "is_a": [ "HP:0000365" ], "is_obsolete": "", "replace_id": "" }, "HP:0012782": { "name": [ "perilobar nephrogenic rest", "perilobar nephrogenic rest" ], "alt_id": [], "def": "A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.", "synonym": [ [ "perilobar nephrogenic rests", "perilobar nephrogenic rest" ] ], "xref": [ "SNOMEDCT_US:405935000", "UMLS:C1319017" ], "is_a": [ "HP:0100880" ], "is_obsolete": "", "replace_id": "" }, "HP:0012783": { "name": [ "intralobar nephrogenic rest", "intralobar nephrogenic rest" ], "alt_id": [], "def": "A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls.", "synonym": [ [ "intralobar nephrogenic rests", "intralobar nephrogenic rest" ] ], "xref": [ "SNOMEDCT_US:405934001", "UMLS:C1319016" ], "is_a": [ "HP:0100880" ], "is_obsolete": "", "replace_id": "" }, "HP:0012784": { "name": [ "perinephritis", "perinephritis" ], "alt_id": [], "def": "Inflammation of the connective and adipose tissues surrounding the kidney.", "synonym": [], "xref": [ "MSH:D010501", "SNOMEDCT_US:111404004", "UMLS:C0031065" ], "is_a": [ "HP:0000123" ], "is_obsolete": "", "replace_id": "" }, "HP:0012785": { "name": [ "flexion contracture of finger", "flexion contracture of finger" ], "alt_id": [], "def": "Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.", "synonym": [ [ "flexion deformity of finger", "flexion deformity of finger" ] ], "xref": [ "UMLS:C1857304" ], "is_a": [ "HP:0009473", "HP:0030044" ], "is_obsolete": "", "replace_id": "" }, "HP:0012786": { "name": [ "recurrent cystitis", "recurrent cystitis" ], "alt_id": [], "def": "Repeated infections of the urinary bladder.", "synonym": [ [ "recurrent bladder infections", "recurrent bladder infection" ] ], "xref": [ "SNOMEDCT_US:197853008", "UMLS:C0581366" ], "is_a": [ "HP:0000010" ], "is_obsolete": "", "replace_id": "" }, "HP:0012787": { "name": [ "recurrent pyelonephritis", "recurrent pyelonephritis" ], "alt_id": [], "def": "Repeated episodes of pyelonephritis.", "synonym": [], "xref": [ "UMLS:C0748199" ], "is_a": [ "HP:0000010", "HP:0012330" ], "is_obsolete": "", "replace_id": "" }, "HP:0012788": { "name": [ "reticulate pigmentation of oral mucosa", "reticulate pigmentation of oral mucosa" ], "alt_id": [], "def": "A net-like pattern of increased pigmentation of the oral cavity.", "synonym": [ [ "mottled pigmentation of oral mucosa", "mottle pigmentation of oral mucosa" ], [ "reticulate pigmentation of oral mucous membrane", "reticulate pigmentation of oral mucous membrane" ] ], "xref": [ "UMLS:C1852148" ], "is_a": [ "HP:0100669" ], "is_obsolete": "", "replace_id": "" }, "HP:0012789": { "name": [ "hypoplasia of the calcaneus", "hypoplasia of the calcaneus" ], "alt_id": [], "def": "Underdevelopment of the heel bone.", "synonym": [ [ "hypoplastic calcaneus", "hypoplastic calcaneus" ], [ "small heel bone", "small heel bone" ], [ "underdeveloped heel bone", "underdeveloped heel bone" ] ], "xref": [ "UMLS:C3550873" ], "is_a": [ "HP:0008363", "HP:0008364" ], "is_obsolete": "", "replace_id": "" }, "HP:0012790": { "name": [ "abnormal intramembranous ossification", "abnormal intramembranous ossification" ], "alt_id": [], "def": "An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed.", "synonym": [ [ "abnormal intramembranous bone ossification", "abnormal intramembranous bone ossification" ] ], "xref": [ "UMLS:C4021069" ], "is_a": [ "HP:0011849" ], "is_obsolete": "", "replace_id": "" }, "HP:0012791": { "name": [ "abnormal humeral ossification", "abnormal humeral ossification" ], "alt_id": [], "def": "An anomaly of the process of formation of bone in the humerus.", "synonym": [ [ "abnormal maturation of long bone in upper arm", "abnormal maturation of long bone in upper arm" ] ], "xref": [ "UMLS:C4022722" ], "is_a": [ "HP:0003063", "HP:0003336" ], "is_obsolete": "", "replace_id": "" }, "HP:0012792": { "name": [ "absent ossification of thoracic vertebral bodies", "absent ossification of thoracic vertebral body" ], "alt_id": [], "def": "A lack of bone mineralization of one or more body of thoracic vertebra.", "synonym": [], "xref": [ "UMLS:C4022721" ], "is_a": [ "HP:0004599" ], "is_obsolete": "", "replace_id": "" }, "HP:0012793": { "name": [ "kinked brainstem", "kink brainstem" ], "alt_id": [], "def": "A kinked appearance of the brainstem, i.e., an exaggerated flexure.", "synonym": [ [ "kinked brain stem", "kink brain stem" ] ], "xref": [ "UMLS:C4021068" ], "is_a": [ "HP:0002363" ], "is_obsolete": "", "replace_id": "" }, "HP:0012794": { "name": [ "periventricular white matter hypodensities", "periventricular white matter hypodensities" ], "alt_id": [], "def": "Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.", "synonym": [ [ "periventricular cerebral white matter hypodensities", "periventricular cerebral white matter hypodensities" ] ], "xref": [ "UMLS:C4022720" ], "is_a": [ "HP:0007103" ], "is_obsolete": "", "replace_id": "" }, "HP:0012795": { "name": [ "abnormality of the optic disc", "abnormality of the optic disc" ], "alt_id": [], "def": "A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.", "synonym": [], "xref": [ "UMLS:C3808249" ], "is_a": [ "HP:0000587" ], "is_obsolete": "", "replace_id": "" }, "HP:0012796": { "name": [ "increased cup - to - disc ratio", "increase cup - to - disc ratio" ], "alt_id": [], "def": "An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.", "synonym": [ [ "elevated cup to disc ratio", "elevate cup to disc ratio" ], [ "increased cup disc ratio", "increase cup disc ratio" ] ], "xref": [ "UMLS:C3805911" ], "is_a": [ "HP:0012795" ], "is_obsolete": "", "replace_id": "" }, "HP:0012797": { "name": [ "lymphatic vessel neoplasm", "lymphatic vessel neoplasm" ], "alt_id": [], "def": "A benign or malignant neoplasm arising from the lymphatic vessels.", "synonym": [ [ "lymphatic vessel tumor", "lymphatic vessel tumor" ], [ "lymphatic vessel tumour", "lymphatic vessel tumour" ] ], "xref": [ "MSH:D018190", "NCIT:C3262", "SNOMEDCT_US:115236002", "UMLS:C0206619" ], "is_a": [ "HP:0100742", "HP:0100766" ], "is_obsolete": "", "replace_id": "" }, "HP:0012798": { "name": [ "pulmonary lymphangiomyomatosis", "pulmonary lymphangiomyomatosis" ], "alt_id": [], "def": "Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls.", "synonym": [ [ "lymphangioleiomyomatosis", "lymphangioleiomyomatosis" ], [ "pulmonary myomatosis", "pulmonary myomatosis" ] ], "xref": [ "MSH:D018192", "SNOMEDCT_US:73017001", "UMLS:C0238399", "UMLS:C0751674" ], "is_a": [ "HP:0012797", "HP:0100526" ], "is_obsolete": "", "replace_id": "" }, "HP:0012799": { "name": [ "unilateral facial palsy", "unilateral facial palsy" ], "alt_id": [], "def": "One-sided weakness of the muscles of facial expression and eye closure.", "synonym": [ [ "facial droop", "facial droop" ], [ "paralysis of one side of the face", "paralysis of one side of the face" ], [ "unilateral facial muscle paralysis", "unilateral facial muscle paralysis" ], [ "unilateral facial muscle weakness", "unilateral facial muscle weakness" ], [ "unilateral facial paralysis", "unilateral facial paralysis" ], [ "unilateral facial weakness", "unilateral facial weakness" ], [ "weakness of one side of the face", "weakness of one side of the face" ] ], "xref": [ "UMLS:C0239516", "UMLS:C4022719" ], "is_a": [ "HP:0010628" ], "is_obsolete": "", "replace_id": "" }, "HP:0012800": { "name": [ "accessory cranial suture", "accessory cranial suture" ], "alt_id": [], "def": "A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.", "synonym": [ [ "accessory fontanelle", "accessory fontanelle" ], [ "extra cranial suture", "extra cranial suture" ], [ "extra fontanelle", "extra fontanelle" ], [ "supernumary cranial suture", "supernumary cranial suture" ], [ "supernumary fontanelle", "supernumary fontanelle" ] ], "xref": [ "UMLS:C4021067", "UMLS:C4022927" ], "is_a": [ "HP:0011329" ], "is_obsolete": "", "replace_id": "" }, "HP:0012801": { "name": [ "narrow jaw", "narrow jaw" ], "alt_id": [], "def": "Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective).", "synonym": [ [ "narrow jaw", "narrow jaw" ], [ "narrow lower face", "narrow low face" ], [ "narrow lower jaw", "narrow low jaw" ], [ "narrow mandible", "narrow mandible" ], [ "thin lower face", "thin low face" ], [ "thin lower jaw", "thin low jaw" ] ], "xref": [ "UMLS:C4021066", "UMLS:C4280310" ], "is_a": [ "HP:0000277" ], "is_obsolete": "", "replace_id": "" }, "HP:0012802": { "name": [ "broad jaw", "broad jaw" ], "alt_id": [], "def": "Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).", "synonym": [ [ "broad jaw", "broad jaw" ], [ "broad lower face", "broad low face" ], [ "broad mandible", "broad mandible" ], [ "wide jaw", "wide jaw" ], [ "wide mandible", "wide mandible" ] ], "xref": [ "UMLS:C3281059" ], "is_a": [ "HP:0000277" ], "is_obsolete": "", "replace_id": "" }, "HP:0012803": { "name": [ "anisometropia", "anisometropia" ], "alt_id": [], "def": "Inequality of refractive power of the two eyes.", "synonym": [], "xref": [ "MSH:D015858", "SNOMEDCT_US:3289004", "UMLS:C0003081" ], "is_a": [ "HP:0000539" ], "is_obsolete": "", "replace_id": "" }, "HP:0012804": { "name": [ "corneal ulceration", "corneal ulceration" ], "alt_id": [], "def": "Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.", "synonym": [ [ "corneal ulcer", "corneal ulcer" ], [ "corneal ulcerations", "corneal ulceration" ] ], "xref": [ "MSH:D003320", "SNOMEDCT_US:91514001", "UMLS:C0010043" ], "is_a": [ "HP:0011495" ], "is_obsolete": "", "replace_id": "" }, "HP:0012805": { "name": [ "iris transillumination defect", "iris transillumination defect" ], "alt_id": [], "def": "Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.", "synonym": [], "xref": [ "UMLS:C1096099" ], "is_a": [ "HP:0008034" ], "is_obsolete": "", "replace_id": "" }, "HP:0012806": { "name": [ "proboscis", "proboscis" ], "alt_id": [], "def": "A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.", "synonym": [], "xref": [ "UMLS:C0687082" ], "is_a": [ "HP:0005105" ], "is_obsolete": "", "replace_id": "" }, "HP:0012807": { "name": [ "high insertion of columella", "high insertion of columella" ], "alt_id": [], "def": "Insertion of the posterior columella superior to the nasal base.", "synonym": [ [ "ala lower than columella", "ala low than columella" ], [ "columella , high insertion", "columella , high insertion" ] ], "xref": [ "UMLS:C4020909" ], "is_a": [ "HP:0009929" ], "is_obsolete": "", "replace_id": "" }, "HP:0012808": { "name": [ "abnormal nasal base", "abnormal nasal base" ], "alt_id": [], "def": "An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face.", "synonym": [ [ "abnormal nasal base", "abnormal nasal base" ], [ "abnormality of base of nose", "abnormality of base of nose" ], [ "anomaly of base of nose", "anomaly of base of nose" ], [ "anomaly of nasal base", "anomaly of nasal base" ], [ "deformity of base of nose", "deformity of base of nose" ], [ "deformity of nasal base", "deformity of nasal base" ], [ "malformation of base of nose", "malformation of base of nose" ], [ "malformation of nasal base", "malformation of nasal base" ] ], "xref": [ "UMLS:C4022718" ], "is_a": [ "HP:0000366" ], "is_obsolete": "", "replace_id": "" }, "HP:0012809": { "name": [ "narrow nasal base", "narrow nasal base" ], "alt_id": [], "def": "Decreased distance between the attachments of the alae nasi to the face.", "synonym": [ [ "decreased width of base of nose", "decrease width of base of nose" ], [ "decreased width of nasal base", "decrease width of nasal base" ], [ "narrow base of nose", "narrow base of nose" ], [ "narrow nasal base", "narrow nasal base" ], [ "thin base of nose", "thin base of nose" ], [ "thin nasal base", "thin nasal base" ] ], "xref": [ "UMLS:C4022717" ], "is_a": [ "HP:0012808" ], "is_obsolete": "", "replace_id": "" }, "HP:0012810": { "name": [ "wide nasal base", "wide nasal base" ], "alt_id": [], "def": "Increased distance between the attachments of the alae nasi to the face.", "synonym": [ [ "broad base of nose", "broad base of nose" ], [ "broad nasal base", "broad nasal base" ], [ "increased width of base of nose", "increase width of base of nose" ], [ "increased width of nasal base", "increase width of nasal base" ], [ "wide base of nose", "wide base of nose" ], [ "wide nasal base", "wide nasal base" ] ], "xref": [ "UMLS:C1849667" ], "is_a": [ "HP:0012808" ], "is_obsolete": "", "replace_id": "" }, "HP:0012811": { "name": [ "wide nasal ridge", "wide nasal ridge" ], "alt_id": [], "def": "Increased width of the nasal ridge.", "synonym": [ [ "broad dorsum of nose", "broad dorsum of nose" ], [ "broad nasal dorsum", "broad nasal dorsum" ], [ "broad nasal ridge", "broad nasal ridge" ], [ "increased width of dorsum of nose", "increase width of dorsum of nose" ], [ "increased width of nasal dorsum", "increase width of nasal dorsum" ], [ "increased width of nasal ridge", "increase width of nasal ridge" ], [ "nasal ridge , wide", "nasal ridge , wide" ], [ "wide dorsum of nose", "wide dorsum of nose" ], [ "wide nasal dorsum", "wide nasal dorsum" ], [ "wide nasal ridge", "wide nasal ridge" ] ], "xref": [ "UMLS:C4020718" ], "is_a": [ "HP:0011119" ], "is_obsolete": "", "replace_id": "" }, "HP:0012812": { "name": [ "fullness of paranasal tissue", "fullness of paranasal tissue" ], "alt_id": [], "def": "Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues.", "synonym": [ [ "fullness of tissue around the nose", "fullness of tissue around the nose" ], [ "hyperplasia of paranasal tissue", "hyperplasia of paranasal tissue" ], [ "hypertrophy of paranasal tissue", "hypertrophy of paranasal tissue" ], [ "laterally built up nose", "laterally build up nose" ], [ "paranasal fullness", "paranasal fullness" ], [ "thick paranasal tissue", "thick paranasal tissue" ], [ "thick tissue around the nose", "thick tissue around the nose" ] ], "xref": [ "UMLS:C4021065", "UMLS:C4280308", "UMLS:C4280309" ], "is_a": [ "HP:0005105" ], "is_obsolete": "", "replace_id": "" }, "HP:0012813": { "name": [ "unilateral breast hypoplasia", "unilateral breast hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the breast on one side only.", "synonym": [ [ "one underdeveloped breast", "one underdevelop breast" ] ], "xref": [ "UMLS:C1844722" ], "is_a": [ "HP:0003187" ], "is_obsolete": "", "replace_id": "" }, "HP:0012814": { "name": [ "bilateral breast hypoplasia", "bilateral breast hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the breast on both sides.", "synonym": [ [ "two underdeveloped breasts", "two underdeveloped breast" ] ], "xref": [ "UMLS:C4022716" ], "is_a": [ "HP:0003187" ], "is_obsolete": "", "replace_id": "" }, "HP:0012815": { "name": [ "hypoplastic female external genitalia", "hypoplastic female external genitalia" ], "alt_id": [], "def": "Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).", "synonym": [ [ "underdeveloped female external genitalia", "underdeveloped female external genitalia" ] ], "xref": [ "UMLS:C4022715" ], "is_a": [ "HP:0000055", "HP:0003241" ], "is_obsolete": "", "replace_id": "" }, "HP:0012816": { "name": [ "right ventricular noncompaction cardiomyopathy", "right ventricular noncompaction cardiomyopathy" ], "alt_id": [], "def": "A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.", "synonym": [], "xref": [ "UMLS:C4022714" ], "is_a": [ "HP:0012817" ], "is_obsolete": "", "replace_id": "" }, "HP:0012817": { "name": [ "noncompaction cardiomyopathy", "noncompaction cardiomyopathy" ], "alt_id": [], "def": "A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.", "synonym": [ [ "noncompaction of the ventricular myocardium", "noncompaction of the ventricular myocardium" ], [ "spongiform cardiomyopathy", "spongiform cardiomyopathy" ] ], "xref": [ "UMLS:C1839832" ], "is_a": [ "HP:0001638" ], "is_obsolete": "", "replace_id": "" }, "HP:0012818": { "name": [ "biventricular noncompaction cardiomyopathy", "biventricular noncompaction cardiomyopathy" ], "alt_id": [], "def": "Noncompaction cardiomyopathy that affects both ventricles.", "synonym": [], "xref": [ "UMLS:C4022713" ], "is_a": [ "HP:0012817" ], "is_obsolete": "", "replace_id": "" }, "HP:0012819": { "name": [ "myocarditis", "myocarditis" ], "alt_id": [], "def": "Inflammation of the myocardium.", "synonym": [ [ "inflammation of heart muscle", "inflammation of heart muscle" ] ], "xref": [ "MSH:D009205", "SNOMEDCT_US:50920009", "UMLS:C0027059" ], "is_a": [ "HP:0001637" ], "is_obsolete": "", "replace_id": "" }, "HP:0012820": { "name": [ "bilateral vocal cord paralysis", "bilateral vocal cord paralysis" ], "alt_id": [], "def": "A loss of the ability to move the vocal fold on both sides.", "synonym": [], "xref": [ "UMLS:C2146481" ], "is_a": [ "HP:0001605" ], "is_obsolete": "", "replace_id": "" }, "HP:0012821": { "name": [ "unilateral vocal cord paresis", "unilateral vocal cord paresis" ], "alt_id": [], "def": "Decreased strength of the vocal fold on one side.", "synonym": [], "xref": [ "MSH:D014826", "UMLS:C0751577" ], "is_a": [ "HP:0001604" ], "is_obsolete": "", "replace_id": "" }, "HP:0012822": { "name": [ "bilateral vocal cord paresis", "bilateral vocal cord paresis" ], "alt_id": [], "def": "Decreased strength of the vocal fold on both sides.", "synonym": [], "xref": [ "MSH:D014826", "UMLS:C0751574" ], "is_a": [ "HP:0001604" ], "is_obsolete": "", "replace_id": "" }, "HP:0012823": { "name": [ "clinical modifier", "clinical modifier" ], "alt_id": [ "HP:0000004" ], "def": "This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects.", "synonym": [ [ "phenotypic modifier", "phenotypic modifier" ] ], "xref": [ "UMLS:C4021064" ], "is_a": [ "HP:0000001" ], "is_obsolete": "", "replace_id": "" }, "HP:0012824": { "name": [ "severity", "severity" ], "alt_id": [], "def": "The intensity or degree of a manifestation.", "synonym": [ [ "intensity", "intensity" ] ], "xref": [ "SNOMEDCT_US:103370009", "UMLS:C0522510" ], "is_a": [ "HP:0012823" ], "is_obsolete": "", "replace_id": "" }, "HP:0012825": { "name": [ "mild", "mild" ], "alt_id": [], "def": "Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean.", "synonym": [ [ "mild", "mild" ] ], "xref": [ "SNOMEDCT_US:446411000124101", "UMLS:C1513302" ], "is_a": [ "HP:0012824" ], "is_obsolete": "", "replace_id": "" }, "HP:0012826": { "name": [ "moderate", "moderate" ], "alt_id": [], "def": "Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean.", "synonym": [], "xref": [ "SNOMEDCT_US:446421000124109", "SNOMEDCT_US:6736007", "UMLS:C0205081" ], "is_a": [ "HP:0012824" ], "is_obsolete": "", "replace_id": "" }, "HP:0012827": { "name": [ "borderline", "borderline" ], "alt_id": [], "def": "Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean.", "synonym": [ [ "borderline", "borderline" ] ], "xref": [ "UMLS:C0205189" ], "is_a": [ "HP:0012824" ], "is_obsolete": "", "replace_id": "" }, "HP:0012828": { "name": [ "severe", "severe" ], "alt_id": [], "def": "Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean.", "synonym": [ [ "severe", "severe" ] ], "xref": [ "SNOMEDCT_US:24484000", "UMLS:C0205082" ], "is_a": [ "HP:0012824" ], "is_obsolete": "", "replace_id": "" }, "HP:0012829": { "name": [ "profound", "profound" ], "alt_id": [], "def": "Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean.", "synonym": [ [ "profound", "profound" ] ], "xref": [ "SNOMEDCT_US:795002", "UMLS:C0439808" ], "is_a": [ "HP:0012824" ], "is_obsolete": "", "replace_id": "" }, "HP:0012830": { "name": [ "position", "position" ], "alt_id": [], "def": "The anatomical localization of the specified phenotypic abnormality.", "synonym": [], "xref": [ "UMLS:C4019252" ], "is_a": [ "HP:0012823" ], "is_obsolete": "", "replace_id": "" }, "HP:0012831": { "name": [ "laterality", "laterality" ], "alt_id": [], "def": "The localization with respect to the side of the body of the specified phenotypic abnormality.", "synonym": [], "xref": [ "SNOMEDCT_US:272741003", "UMLS:C0332304" ], "is_a": [ "HP:0012830" ], "is_obsolete": "", "replace_id": "" }, "HP:0012832": { "name": [ "bilateral", "bilateral" ], "alt_id": [], "def": "Being present on both sides of the body.", "synonym": [], "xref": [ "SNOMEDCT_US:51440002", "UMLS:C0238767" ], "is_a": [ "HP:0012831" ], "is_obsolete": "", "replace_id": "" }, "HP:0012833": { "name": [ "unilateral", "unilateral" ], "alt_id": [], "def": "Being present on only the left or only the right side of the body.", "synonym": [], "xref": [ "SNOMEDCT_US:66459002", "UMLS:C0205092" ], "is_a": [ "HP:0012831" ], "is_obsolete": "", "replace_id": "" }, "HP:0012834": { "name": [ "right", "right" ], "alt_id": [], "def": "Being located on the right side of the body.", "synonym": [ [ "right - sided", "right - side" ] ], "xref": [ "SNOMEDCT_US:264180000", "UMLS:C0444532" ], "is_a": [ "HP:0012831" ], "is_obsolete": "", "replace_id": "" }, "HP:0012835": { "name": [ "left", "left" ], "alt_id": [], "def": "Being located on the left side of the body.", "synonym": [ [ "left - sided", "left - side" ] ], "xref": [ "SNOMEDCT_US:263795004", "UMLS:C0443246" ], "is_a": [ "HP:0012831" ], "is_obsolete": "", "replace_id": "" }, "HP:0012836": { "name": [ "spatial pattern", "spatial pattern" ], "alt_id": [], "def": "The pattern by which a phenotype affects one or more regions of the body.", "synonym": [], "xref": [ "UMLS:C4022711" ], "is_a": [ "HP:0012830" ], "is_obsolete": "", "replace_id": "" }, "HP:0012837": { "name": [ "generalized", "generalize" ], "alt_id": [], "def": "Affecting all regions without specificity of distribution.", "synonym": [ [ "generalised", "generalise" ] ], "xref": [ "SNOMEDCT_US:60132005", "UMLS:C0205246" ], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0012838": { "name": [ "localized", "localize" ], "alt_id": [], "def": "Being confined or restricted to a particular location.", "synonym": [ [ "localised", "localise" ], [ "localized", "localize" ] ], "xref": [ "SNOMEDCT_US:255471002", "UMLS:C0392752" ], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0012839": { "name": [ "distal", "distal" ], "alt_id": [], "def": "Localized away from the central point of the body.", "synonym": [ [ "outermost", "outermost" ] ], "xref": [ "SNOMEDCT_US:46053002", "UMLS:C0205108" ], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0012840": { "name": [ "proximal", "proximal" ], "alt_id": [], "def": "Localized close to the central point of the body.", "synonym": [], "xref": [ "SNOMEDCT_US:40415009", "UMLS:C0205107" ], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0012841": { "name": [ "retinal vascular tortuosity", "retinal vascular tortuosity" ], "alt_id": [], "def": "The presence of an increased number of twists and turns of the retinal blood vessels.", "synonym": [ [ "tortuous retinal vessels", "tortuous retinal vessel" ] ], "xref": [ "UMLS:C1860475" ], "is_a": [ "HP:0008046" ], "is_obsolete": "", "replace_id": "" }, "HP:0012842": { "name": [ "skin appendage neoplasm", "skin appendage neoplasm" ], "alt_id": [], "def": "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.", "synonym": [ [ "skin adnexal neoplasm", "skin adnexal neoplasm" ], [ "skin adnexal tumor", "skin adnexal tumor" ], [ "skin adnexal tumour", "skin adnexal tumour" ] ], "xref": [ "NCIT:C3262", "SNOMEDCT_US:126489007", "SNOMEDCT_US:55681005", "UMLS:C0345988" ], "is_a": [ "HP:0008069", "HP:0011138" ], "is_obsolete": "", "replace_id": "" }, "HP:0012843": { "name": [ "hair follicle neoplasm", "hair follicle neoplasm" ], "alt_id": [], "def": "An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth.", "synonym": [], "xref": [ "NCIT:C3262", "SNOMEDCT_US:44155009", "UMLS:C0859920" ], "is_a": [ "HP:0012842" ], "is_obsolete": "", "replace_id": "" }, "HP:0012844": { "name": [ "trichilemmoma", "trichilemmoma" ], "alt_id": [], "def": "A benign tumour originating from the outer root sheath of the hair follicle.", "synonym": [ [ "tricholemmoma", "tricholemmoma" ] ], "xref": [ "SNOMEDCT_US:274900003", "SNOMEDCT_US:46199002", "UMLS:C0334263" ], "is_a": [ "HP:0012843" ], "is_obsolete": "", "replace_id": "" }, "HP:0012845": { "name": [ "single trichilemmoma", "single trichilemmoma" ], "alt_id": [], "def": "Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle.", "synonym": [], "xref": [ "UMLS:C4022710" ], "is_a": [ "HP:0012844" ], "is_obsolete": "", "replace_id": "" }, "HP:0012846": { "name": [ "multiple trichilemmomata", "multiple trichilemmomata" ], "alt_id": [], "def": "Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle.", "synonym": [ [ "multiple trichilemmomas", "multiple trichilemmomas" ] ], "xref": [ "UMLS:C4021063" ], "is_a": [ "HP:0012844" ], "is_obsolete": "", "replace_id": "" }, "HP:0012847": { "name": [ "epilepsia partialis continua", "epilepsia partialis continuum" ], "alt_id": [], "def": "Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years).", "synonym": [ [ "epilepsia partialis continua of kojevnikov", "epilepsia partialis continuum of kojevnikov" ], [ "kojevnikov 's epilepsia", "kojevnikov 's epilepsia" ], [ "kozhevnikov 's epilepsia", "kozhevnikov 's epilepsia" ] ], "xref": [ "MSH:D017036", "SNOMEDCT_US:241006", "UMLS:C0085543" ], "is_a": [ "HP:0032663" ], "is_obsolete": "", "replace_id": "" }, "HP:0012848": { "name": [ "small intestinal stenosis", "small intestinal stenosis" ], "alt_id": [], "def": "The narrowing or partial blockage of a portion of the small intestine.", "synonym": [ [ "narrowing of small intestine", "narrowing of small intestine" ] ], "xref": [ "UMLS:C0151924" ], "is_a": [ "HP:0002244" ], "is_obsolete": "", "replace_id": "" }, "HP:0012849": { "name": [ "small intestinal bleeding", "small intestinal bleeding" ], "alt_id": [], "def": "Bleeding from the small intestine.", "synonym": [ [ "small intestinal bleeding", "small intestinal bleeding" ], [ "small intestinal haemorrhage", "small intestinal haemorrhage" ], [ "small intestinal hemorrhage", "small intestinal hemorrhage" ] ], "xref": [ "SNOMEDCT_US:70375006", "UMLS:C0520561" ], "is_a": [ "HP:0002244", "HP:0002584" ], "is_obsolete": "", "replace_id": "" }, "HP:0012850": { "name": [ "small intestinal dysmotility", "small intestinal dysmotility" ], "alt_id": [], "def": "Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.", "synonym": [], "xref": [ "SNOMEDCT_US:253768006", "UMLS:C0345200" ], "is_a": [ "HP:0002244", "HP:0002579" ], "is_obsolete": "", "replace_id": "" }, "HP:0012851": { "name": [ "colonic stenosis", "colonic stenosis" ], "alt_id": [], "def": "A narrowing of a segment of colon whereby bowel continuity is maintained.", "synonym": [ [ "narrowing of the colon", "narrowing of the colon" ], [ "stenosis of the colon", "stenosis of the colon" ] ], "xref": [ "SNOMEDCT_US:19132000", "SNOMEDCT_US:8543007", "UMLS:C0267466" ], "is_a": [ "HP:0002250" ], "is_obsolete": "", "replace_id": "" }, "HP:0012852": { "name": [ "hepatic bridging fibrosis", "hepatic bridging fibrosis" ], "alt_id": [], "def": "Hepatic fibrosis that reaches from a portal area to another portal area.", "synonym": [], "xref": [ "UMLS:C4022709" ], "is_a": [ "HP:0001395" ], "is_obsolete": "", "replace_id": "" }, "HP:0012853": { "name": [ "scrotal hypospadias", "scrotal hypospadias" ], "alt_id": [], "def": "Hypospadias with location of the urethral meatus in the scrotum.", "synonym": [], "xref": [ "SNOMEDCT_US:702462000", "UMLS:C2197691" ], "is_a": [ "HP:0000047" ], "is_obsolete": "", "replace_id": "" }, "HP:0012854": { "name": [ "midshaft hypospadias", "midshaft hypospadias" ], "alt_id": [], "def": "Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.", "synonym": [], "xref": [ "UMLS:C4022708" ], "is_a": [ "HP:0000047" ], "is_obsolete": "", "replace_id": "" }, "HP:0012855": { "name": [ "scrotal hyperpigmentation", "scrotal hyperpigmentation" ], "alt_id": [], "def": "Increased pigmentation (skin color) of the scrotum.", "synonym": [ [ "hyperpigmentation of the scrotum", "hyperpigmentation of the scrotum" ], [ "hyperpigmented scrotum", "hyperpigmented scrotum" ], [ "increased pigmentation in scrotum", "increase pigmentation in scrotum" ] ], "xref": [ "UMLS:C4021062" ], "is_a": [ "HP:0000045" ], "is_obsolete": "", "replace_id": "" }, "HP:0012856": { "name": [ "abnormal scrotal rugation", "abnormal scrotal rugation" ], "alt_id": [], "def": "Anomaly of the folded ridges (wrinkles) of skin of the scrotum.", "synonym": [], "xref": [ "UMLS:C4022707" ], "is_a": [ "HP:0000045" ], "is_obsolete": "", "replace_id": "" }, "HP:0012857": { "name": [ "increased scrotal rugation", "increase scrotal rugation" ], "alt_id": [], "def": "Increased number or density of the folded ridges (wrinkles) of skin of the scrotum.", "synonym": [], "xref": [ "UMLS:C4022706" ], "is_a": [ "HP:0012856" ], "is_obsolete": "", "replace_id": "" }, "HP:0012858": { "name": [ "decreased scrotal rugation", "decrease scrotal rugation" ], "alt_id": [], "def": "Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum.", "synonym": [], "xref": [ "UMLS:C4022705" ], "is_a": [ "HP:0012856" ], "is_obsolete": "", "replace_id": "" }, "HP:0012859": { "name": [ "esophageal leukoplakia", "esophageal leukoplakia" ], "alt_id": [], "def": "A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease.", "synonym": [ [ "esophageal epidermoid metaplasia", "esophageal epidermoid metaplasia" ] ], "xref": [ "SNOMEDCT_US:89057003", "UMLS:C0267095" ], "is_a": [ "HP:0002031" ], "is_obsolete": "", "replace_id": "" }, "HP:0012860": { "name": [ "testicular fibrosis", "testicular fibrosis" ], "alt_id": [], "def": "Formation of excess connective tissue in the testicle.", "synonym": [ [ "fibrotic testes", "fibrotic testis" ], [ "fibrotic testicle", "fibrotic testicle" ] ], "xref": [ "UMLS:C4021061" ], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0012861": { "name": [ "ovotestis", "ovotestis" ], "alt_id": [], "def": "A gonad that contains both ovarian follicles and testicular tubular elements.", "synonym": [], "xref": [ "MSH:D050090", "SNOMEDCT_US:18978002", "UMLS:C0266361" ], "is_a": [ "HP:0000062" ], "is_obsolete": "", "replace_id": "" }, "HP:0012862": { "name": [ "abnormal germ cell morphology", "abnormal germ cell morphology" ], "alt_id": [], "def": "Any structural anomaly of a reproductive cell.", "synonym": [ [ "abnormal shape of a reproductive cell", "abnormal shape of a reproductive cell" ], [ "abnormally shaped germ cell", "abnormally shaped germ cell" ], [ "abnormally shaped reproductive cell", "abnormally shaped reproductive cell" ] ], "xref": [ "UMLS:C4022704" ], "is_a": [ "HP:0012243" ], "is_obsolete": "", "replace_id": "" }, "HP:0012863": { "name": [ "abnormal male germ cell morphology", "abnormal male germ cell morphology" ], "alt_id": [], "def": "A structural anomaly of a male reproductive cell.", "synonym": [], "xref": [ "UMLS:C4022703" ], "is_a": [ "HP:0012862" ], "is_obsolete": "", "replace_id": "" }, "HP:0012864": { "name": [ "abnormal sperm morphology", "abnormal sperm morphology" ], "alt_id": [], "def": "A structural anomaly of sperm.", "synonym": [ [ "abnormal shape of sperm", "abnormal shape of sperm" ], [ "teratospermia", "teratospermia" ], [ "teratozoospermia", "teratozoospermia" ] ], "xref": [ "MSH:D000072660", "SNOMEDCT_US:236817003", "UMLS:C0403824" ], "is_a": [ "HP:0012863" ], "is_obsolete": "", "replace_id": "" }, "HP:0012865": { "name": [ "abnormal sperm head morphology", "abnormal sperm head morphology" ], "alt_id": [], "def": "A structural abnormality of the sperm head.", "synonym": [ [ "sperm head anomaly", "sperm head anomaly" ] ], "xref": [ "UMLS:C4022702" ], "is_a": [ "HP:0012864" ], "is_obsolete": "", "replace_id": "" }, "HP:0012866": { "name": [ "abnormal sperm neck morphology", "abnormal sperm neck morphology" ], "alt_id": [], "def": "A structural abnormality of the sperm neck.", "synonym": [ [ "sperm neck anomaly", "sperm neck anomaly" ] ], "xref": [ "UMLS:C4022701" ], "is_a": [ "HP:0012864" ], "is_obsolete": "", "replace_id": "" }, "HP:0012867": { "name": [ "abnormal sperm mid - piece morphology", "abnormal sperm mid - piece morphology" ], "alt_id": [], "def": "A structural abnormality of the sperm mid-piece.", "synonym": [ [ "sperm mid - piece anomaly", "sperm mid - piece anomaly" ] ], "xref": [ "UMLS:C4022700" ], "is_a": [ "HP:0012864" ], "is_obsolete": "", "replace_id": "" }, "HP:0012868": { "name": [ "abnormal sperm tail morphology", "abnormal sperm tail morphology" ], "alt_id": [], "def": "A structural abnormality of the sperm tail.", "synonym": [ [ "sperm tail anomaly", "sperm tail anomaly" ] ], "xref": [ "UMLS:C4022699" ], "is_a": [ "HP:0012864" ], "is_obsolete": "", "replace_id": "" }, "HP:0012869": { "name": [ "acephalic spermatozoa", "acephalic spermatozoon" ], "alt_id": [], "def": "Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.", "synonym": [], "xref": [ "UMLS:C4022698" ], "is_a": [ "HP:0012865" ], "is_obsolete": "", "replace_id": "" }, "HP:0012870": { "name": [ "vanishing testis", "vanish testis" ], "alt_id": [], "def": "A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction.", "synonym": [ [ "testicular regression syndrome", "testicular regression syndrome" ], [ "vanishing testis", "vanish testis" ] ], "xref": [ "MSH:C537770", "SNOMEDCT_US:53599007", "UMLS:C0266427" ], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0012871": { "name": [ "varicocele", "varicocele" ], "alt_id": [], "def": "A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum.", "synonym": [ [ "vaginal varicocele", "vaginal varicocele" ] ], "xref": [ "MSH:D014646", "SNOMEDCT_US:46871008", "SNOMEDCT_US:51070004", "UMLS:C0042341" ], "is_a": [ "HP:0000045" ], "is_obsolete": "", "replace_id": "" }, "HP:0012872": { "name": [ "abnormal vas deferens morphology", "abnormal va deferens morphology" ], "alt_id": [], "def": "A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.", "synonym": [], "xref": [ "UMLS:C4022697" ], "is_a": [ "HP:0000022" ], "is_obsolete": "", "replace_id": "" }, "HP:0012873": { "name": [ "absent vas deferens", "absent va deferens" ], "alt_id": [], "def": "Aplasia (congenital absence) of the vas deferens.", "synonym": [ [ "absent deferent duct", "absent deferent duct" ], [ "absent ductus deferens", "absent ductus deferens" ], [ "congenital absence of the vas deferens", "congenital absence of the va deferens" ] ], "xref": [ "SNOMEDCT_US:300506000", "SNOMEDCT_US:5286009", "SNOMEDCT_US:702610009", "UMLS:C0266444" ], "is_a": [ "HP:0012872" ], "is_obsolete": "", "replace_id": "" }, "HP:0012874": { "name": [ "abnormal male reproductive system physiology", "abnormal male reproductive system physiology" ], "alt_id": [], "def": "An abnormal functionality of the male genital system.", "synonym": [ [ "abnormal male genital system physiology", "abnormal male genital system physiology" ] ], "xref": [ "UMLS:C4020716" ], "is_a": [ "HP:0000080" ], "is_obsolete": "", "replace_id": "" }, "HP:0012875": { "name": [ "abnormal ejaculation", "abnormal ejaculation" ], "alt_id": [], "def": "Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.", "synonym": [], "xref": [ "SNOMEDCT_US:386674000", "UMLS:C2937350" ], "is_a": [ "HP:0012874" ], "is_obsolete": "", "replace_id": "" }, "HP:0012876": { "name": [ "premature ejaculation", "premature ejaculation" ], "alt_id": [], "def": "The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration.", "synonym": [ [ "premature ejaculation", "premature ejaculation" ] ], "xref": [ "MSH:D061686", "SNOMEDCT_US:44001008", "UMLS:C0033038" ], "is_a": [ "HP:0012875" ], "is_obsolete": "", "replace_id": "" }, "HP:0012877": { "name": [ "retrograde ejaculation", "retrograde ejaculation" ], "alt_id": [], "def": "The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.", "synonym": [], "xref": [ "SNOMEDCT_US:50112006", "UMLS:C0403673" ], "is_a": [ "HP:0012875" ], "is_obsolete": "", "replace_id": "" }, "HP:0012878": { "name": [ "retarded ejaculation", "retard ejaculation" ], "alt_id": [], "def": "Difficulty of a male in achieving orgasm.", "synonym": [ [ "delayed ejaculation", "delay ejaculation" ] ], "xref": [ "SNOMEDCT_US:15405008", "UMLS:C0234047" ], "is_a": [ "HP:0012875" ], "is_obsolete": "", "replace_id": "" }, "HP:0012879": { "name": [ "anejaculation", "anejaculation" ], "alt_id": [], "def": "Inability to ejaculate.", "synonym": [ [ "ejaculatory incompetence", "ejaculatory incompetence" ] ], "xref": [ "SNOMEDCT_US:248782001", "SNOMEDCT_US:42288005", "UMLS:C0278106" ], "is_a": [ "HP:0012875" ], "is_obsolete": "", "replace_id": "" }, "HP:0012880": { "name": [ "abnormal labia minora morphology", "abnormal labium minora morphology" ], "alt_id": [], "def": "An anomaly of the labia minora, the folds of skin between the outer labia.", "synonym": [ [ "abnormality of the inner vaginal lips", "abnormality of the inner vaginal lip" ], [ "abnormality of the labia minora", "abnormality of the labium minora" ] ], "xref": [ "UMLS:C4022696" ], "is_a": [ "HP:0000058" ], "is_obsolete": "", "replace_id": "" }, "HP:0012881": { "name": [ "abnormal labia majora morphology", "abnormal labium majora morphology" ], "alt_id": [], "def": "An anomaly of the outer labia.", "synonym": [ [ "abnormality of the labia majora", "abnormality of the labium majora" ], [ "abnormality of vaginal lips", "abnormality of vaginal lip" ] ], "xref": [ "UMLS:C4022695" ], "is_a": [ "HP:0000058" ], "is_obsolete": "", "replace_id": "" }, "HP:0012882": { "name": [ "hyperplastic labia majora", "hyperplastic labium majora" ], "alt_id": [], "def": "Overgrowth of the outer labia.", "synonym": [ [ "enlarged labia majora", "enlarge labium majora" ], [ "hyperplasia of labia majora", "hyperplasia of labium majora" ] ], "xref": [ "UMLS:C4021060" ], "is_a": [ "HP:0012881" ], "is_obsolete": "", "replace_id": "" }, "HP:0012883": { "name": [ "fallopian tube cyst", "fallopian tube cyst" ], "alt_id": [], "def": "A fluid filled sac located in the Fallopian tube.", "synonym": [], "xref": [ "SNOMEDCT_US:59401005", "UMLS:C0269173" ], "is_a": [ "HP:0011027" ], "is_obsolete": "", "replace_id": "" }, "HP:0012884": { "name": [ "fallopian tube torsion", "fallopian tube torsion" ], "alt_id": [], "def": "A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation.", "synonym": [ [ "twisted fallopian tube", "twisted fallopian tube" ] ], "xref": [ "SNOMEDCT_US:46946009", "UMLS:C0269169" ], "is_a": [ "HP:0011027" ], "is_obsolete": "", "replace_id": "" }, "HP:0012885": { "name": [ "fallopian tube duplication", "fallopian tube duplication" ], "alt_id": [], "def": "The presence of a supernumerary Fallopian tube.", "synonym": [ [ "accessory fallopian tube", "accessory fallopian tube" ] ], "xref": [ "SNOMEDCT_US:48672005", "UMLS:C0266375" ], "is_a": [ "HP:0011027" ], "is_obsolete": "", "replace_id": "" }, "HP:0012886": { "name": [ "hemorrhagic ovarian cyst", "hemorrhagic ovarian cyst" ], "alt_id": [], "def": "An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.", "synonym": [], "xref": [ "SNOMEDCT_US:119420007", "UMLS:C0473311" ], "is_a": [ "HP:0000138" ], "is_obsolete": "", "replace_id": "" }, "HP:0012887": { "name": [ "ovarian serous cystadenoma", "ovarian serous cystadenoma" ], "alt_id": [], "def": "A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.", "synonym": [ [ "serous ovarian cyst", "serous ovarian cyst" ] ], "xref": [ "SNOMEDCT_US:119421006", "UMLS:C0346170", "UMLS:C4020715" ], "is_a": [ "HP:0000138" ], "is_obsolete": "", "replace_id": "" }, "HP:0012888": { "name": [ "abnormality of the uterine cervix", "abnormality of the uterine cervix" ], "alt_id": [], "def": "An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.", "synonym": [], "xref": [ "UMLS:C4022694" ], "is_a": [ "HP:0000130" ], "is_obsolete": "", "replace_id": "" }, "HP:0012889": { "name": [ "cervical endometriosis", "cervical endometriosis" ], "alt_id": [], "def": "Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix.", "synonym": [], "xref": [ "SNOMEDCT_US:61640006", "UMLS:C0269107" ], "is_a": [ "HP:0012888", "HP:0030127" ], "is_obsolete": "", "replace_id": "" }, "HP:0012890": { "name": [ "posteriorly placed anus", "posteriorly place anus" ], "alt_id": [], "def": "Posterior malposition of the anus.", "synonym": [], "xref": [ "UMLS:C4022693" ], "is_a": [ "HP:0004397" ], "is_obsolete": "", "replace_id": "" }, "HP:0012891": { "name": [ "high posterior hairline", "high posterior hairline" ], "alt_id": [], "def": "Hair on the neck extends less inferiorly than usual.", "synonym": [ [ "high hairline at back of head", "high hairline at back of head" ] ], "xref": [ "UMLS:C4022692" ], "is_a": [ "HP:0030141" ], "is_obsolete": "", "replace_id": "" }, "HP:0012892": { "name": [ "facial muscle hypertrophy", "facial muscle hypertrophy" ], "alt_id": [], "def": "Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve).", "synonym": [ [ "hyperplasia of facial muscles", "hyperplasia of facial muscle" ], [ "increased size of facial muscles", "increase size of facial muscle" ], [ "large facial muscles", "large facial muscle" ] ], "xref": [ "UMLS:C4022691", "UMLS:C4280307" ], "is_a": [ "HP:0000301", "HP:0003712" ], "is_obsolete": "", "replace_id": "" }, "HP:0012893": { "name": [ "neck muscle hypertrophy", "neck muscle hypertrophy" ], "alt_id": [], "def": "Muscle hypertrophy affecting the muscles of the neck.", "synonym": [ [ "hyperplasia of neck muscles", "hyperplasia of neck muscle" ], [ "hypertrophy of cervical muscles", "hypertrophy of cervical muscle" ], [ "increased size of neck muscles", "increase size of neck muscle" ], [ "large neck muscles", "large neck muscle" ], [ "overgrowth of neck muscles", "overgrowth of neck muscle" ] ], "xref": [ "UMLS:C4022690", "UMLS:C4280306" ], "is_a": [ "HP:0003712", "HP:0011006" ], "is_obsolete": "", "replace_id": "" }, "HP:0012894": { "name": [ "paraspinal muscle hypertrophy", "paraspinal muscle hypertrophy" ], "alt_id": [], "def": "Muscle hypertrophy affecting the paraspinal muscles.", "synonym": [], "xref": [ "UMLS:C4022689" ], "is_a": [ "HP:0003712" ], "is_obsolete": "", "replace_id": "" }, "HP:0012895": { "name": [ "scapular muscle hypertrophy", "scapular muscle hypertrophy" ], "alt_id": [], "def": "Muscle hypertrophy affecting the scapular muscles.", "synonym": [], "xref": [ "UMLS:C4022688" ], "is_a": [ "HP:0003712" ], "is_obsolete": "", "replace_id": "" }, "HP:0012896": { "name": [ "abnormal motor evoked potentials", "abnormal motor evoke potential" ], "alt_id": [], "def": "An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways.", "synonym": [], "xref": [ "UMLS:C4022687" ], "is_a": [ "HP:0030178" ], "is_obsolete": "", "replace_id": "" }, "HP:0012897": { "name": [ "abnormal upper - limb motor evoked potentials", "abnormal upper - limb motor evoke potential" ], "alt_id": [], "def": "An anomaly identified by motor evoked potentials (MEPs) in the arm.", "synonym": [ [ "abnormal motor evoked potentials in the upper limb", "abnormal motor evoke potential in the upper limb" ] ], "xref": [ "UMLS:C4021059" ], "is_a": [ "HP:0012896" ], "is_obsolete": "", "replace_id": "" }, "HP:0012898": { "name": [ "abnormal lower - limb motor evoked potentials", "abnormal low - limb motor evoke potential" ], "alt_id": [], "def": "An anomaly identified by motor evoked potentials (MEPs) in the leg.", "synonym": [ [ "abnormal motor evoked potentials in the lower limb", "abnormal motor evoke potential in the low limb" ] ], "xref": [ "UMLS:C4021058" ], "is_a": [ "HP:0012896" ], "is_obsolete": "", "replace_id": "" }, "HP:0012899": { "name": [ "handgrip myotonia", "handgrip myotonia" ], "alt_id": [], "def": "Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.", "synonym": [ [ "grip myotonia", "grip myotonia" ] ], "xref": [ "UMLS:C1868623" ], "is_a": [ "HP:0002486" ], "is_obsolete": "", "replace_id": "" }, "HP:0012900": { "name": [ "myotonia of the face", "myotonia of the face" ], "alt_id": [], "def": "Slowed relaxation of muscles in the face.", "synonym": [], "xref": [ "UMLS:C4022686" ], "is_a": [ "HP:0002486" ], "is_obsolete": "", "replace_id": "" }, "HP:0012901": { "name": [ "myotonia of the jaw", "myotonia of the jaw" ], "alt_id": [], "def": "Slowed relaxation of muscles in the jaw.", "synonym": [], "xref": [ "UMLS:C4022685" ], "is_a": [ "HP:0002486" ], "is_obsolete": "", "replace_id": "" }, "HP:0012902": { "name": [ "myotonia of the lower limb", "myotonia of the low limb" ], "alt_id": [], "def": "Slowed relaxation of muscles in the leg.", "synonym": [], "xref": [ "UMLS:C4022684" ], "is_a": [ "HP:0002486" ], "is_obsolete": "", "replace_id": "" }, "HP:0012903": { "name": [ "myotonia of the upper limb", "myotonia of the upper limb" ], "alt_id": [], "def": "Slowed relaxation of muscles in the arm.", "synonym": [], "xref": [ "UMLS:C4022683" ], "is_a": [ "HP:0002486" ], "is_obsolete": "", "replace_id": "" }, "HP:0012904": { "name": [ "cold - sensitive myotonia", "cold - sensitive myotonia" ], "alt_id": [], "def": "An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.", "synonym": [], "xref": [ "UMLS:C4022682" ], "is_a": [ "HP:0002486" ], "is_obsolete": "", "replace_id": "" }, "HP:0012905": { "name": [ "euryblepharon", "euryblepharon" ], "alt_id": [], "def": "Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening.", "synonym": [ [ "kabuki syndrome eyelids", "kabuki syndrome eyelid" ] ], "xref": [ "SNOMEDCT_US:400954002", "UMLS:C1303001", "UMLS:C4280305" ], "is_a": [ "HP:0000492" ], "is_obsolete": "", "replace_id": "" }, "HP:0020006": { "name": [ "ciliary body coloboma", "ciliary body coloboma" ], "alt_id": [], "def": "A coloboma of the ciliary body.", "synonym": [], "xref": [ "UMLS:C4072884" ], "is_a": [ "HP:0000589" ], "is_obsolete": "", "replace_id": "" }, "HP:0020034": { "name": [ "diffuse", "diffuse" ], "alt_id": [], "def": "A spatial pattern that is spread out, i.e., not localized.", "synonym": [], "xref": [ "SNOMEDCT_US:19648000", "UMLS:C0205219" ], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0020035": { "name": [ "lower limb dysmetria", "low limb dysmetria" ], "alt_id": [], "def": "A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg.", "synonym": [], "xref": [], "is_a": [ "HP:0002406" ], "is_obsolete": "", "replace_id": "" }, "HP:0020036": { "name": [ "upper limb dysmetria", "upper limb dysmetria" ], "alt_id": [], "def": "A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.", "synonym": [], "xref": [], "is_a": [ "HP:0002406" ], "is_obsolete": "", "replace_id": "" }, "HP:0020037": { "name": [ "astasia", "astasia" ], "alt_id": [], "def": "A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength.", "synonym": [], "xref": [], "is_a": [ "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0020038": { "name": [ "vertebrobasilar dolichoectasia", "vertebrobasilar dolichoectasia" ], "alt_id": [], "def": "Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm.", "synonym": [], "xref": [], "is_a": [ "HP:0030321" ], "is_obsolete": "", "replace_id": "" }, "HP:0020041": { "name": [ "double elevator palsy", "double elevator palsy" ], "alt_id": [], "def": "A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia.", "synonym": [], "xref": [], "is_a": [ "HP:0025068" ], "is_obsolete": "", "replace_id": "" }, "HP:0020042": { "name": [ "double depressor palsy", "double depressor palsy" ], "alt_id": [], "def": "An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.", "synonym": [], "xref": [], "is_a": [ "HP:0025068" ], "is_obsolete": "", "replace_id": "" }, "HP:0020043": { "name": [ "vertical incomitant strabismus", "vertical incomitant strabismus" ], "alt_id": [], "def": "A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards.", "synonym": [], "xref": [], "is_a": [ "HP:0025068" ], "is_obsolete": "", "replace_id": "" }, "HP:0020044": { "name": [ "horizontal incomitant strabismus", "horizontal incomitant strabismus" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0025068" ], "is_obsolete": "", "replace_id": "" }, "HP:0020045": { "name": [ "esodeviation", "esodeviation" ], "alt_id": [], "def": "A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.", "synonym": [ [ "convergent strabismus", "convergent strabismus" ] ], "xref": [], "is_a": [ "HP:0000486" ], "is_obsolete": "", "replace_id": "" }, "HP:0020046": { "name": [ "accommodative esotropia", "accommodative esotropia" ], "alt_id": [], "def": "A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.", "synonym": [], "xref": [], "is_a": [ "HP:0000565" ], "is_obsolete": "", "replace_id": "" }, "HP:0020047": { "name": [ "abnormal myeloid cell morphology", "abnormal myeloid cell morphology" ], "alt_id": [], "def": "Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.", "synonym": [], "xref": [], "is_a": [ "HP:0001871" ], "is_obsolete": "", "replace_id": "" }, "HP:0020048": { "name": [ "reduced bone - marrow pro - b cell count", "reduce bone - marrow pro - b cell count" ], "alt_id": [], "def": "A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19.", "synonym": [], "xref": [], "is_a": [ "HP:0005561" ], "is_obsolete": "", "replace_id": "" }, "HP:0020049": { "name": [ "exodeviation", "exodeviation" ], "alt_id": [], "def": "A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.", "synonym": [ [ "divergent strabismus", "divergent strabismus" ] ], "xref": [], "is_a": [ "HP:0000486" ], "is_obsolete": "", "replace_id": "" }, "HP:0020050": { "name": [ "anti - granulocyte - macrophage colony stimulating factor antibody positivity", "anti - granulocyte - macrophage colony stimulate factor antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.", "synonym": [ [ "anti - gm - csf antibody positivity", "anti - gm - csf antibody positivity" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0020054": { "name": [ "abnormal erythrocyte physiology", "abnormal erythrocyte physiology" ], "alt_id": [], "def": "Any functional abnormality of erythrocytes (red-blood cells).", "synonym": [], "xref": [], "is_a": [ "HP:0001871" ], "is_obsolete": "", "replace_id": "" }, "HP:0020058": { "name": [ "abnormal red blood cell count", "abnormal red blood cell count" ], "alt_id": [], "def": "Any deviation from the normal number of red blood cells per volume in the circulation.", "synonym": [ [ "abnormal rbc count", "abnormal rbc count" ] ], "xref": [], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0020059": { "name": [ "increased red blood cell count", "increase red blood cell count" ], "alt_id": [], "def": "An abnormal elevation above the normal number of red blood cells per volume in the circulation.", "synonym": [ [ "increased rbc count", "increase rbc count" ] ], "xref": [], "is_a": [ "HP:0020058" ], "is_obsolete": "", "replace_id": "" }, "HP:0020060": { "name": [ "decreased red blood cell count", "decrease red blood cell count" ], "alt_id": [], "def": "An abnormal reduction below the normal number of red blood cells per volume in the circulation.", "synonym": [ [ "decreased rbc count", "decrease rbc count" ] ], "xref": [], "is_a": [ "HP:0020058" ], "is_obsolete": "", "replace_id": "" }, "HP:0020061": { "name": [ "abnormal hemoglobin concentration", "abnormal hemoglobin concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of hemoglobin in the blood.", "synonym": [ [ "abnormal haemoglobin concentration", "abnormal haemoglobin concentration" ], [ "abnormal hb concentration", "abnormal hb concentration" ] ], "xref": [], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0020062": { "name": [ "decreased hemoglobin concentration", "decrease hemoglobin concentration" ], "alt_id": [], "def": "An abnormal reduction below normal hemoglobin concentration in the circulation.", "synonym": [ [ "decreased haemoglobin concentration", "decrease haemoglobin concentration" ], [ "decreased hb concentration", "decrease hb concentration" ] ], "xref": [], "is_a": [ "HP:0020061" ], "is_obsolete": "", "replace_id": "" }, "HP:0020063": { "name": [ "increased hemoglobin concentration", "increase hemoglobin concentration" ], "alt_id": [], "def": "An abnormal elevation above normal hemoglobin concentration in the circulation.", "synonym": [ [ "increased haemoglobin concentration", "increase haemoglobin concentration" ], [ "increased hb concentration", "increase hb concentration" ] ], "xref": [], "is_a": [ "HP:0020061" ], "is_obsolete": "", "replace_id": "" }, "HP:0020064": { "name": [ "abnormal eosinophil count", "abnormal eosinophil count" ], "alt_id": [], "def": "Any deviation from the normal number of eosinophils per volume in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0001879", "HP:0032309" ], "is_obsolete": "", "replace_id": "" }, "HP:0020071": { "name": [ "viremia", "viremia" ], "alt_id": [], "def": "The presence of virus in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0031863" ], "is_obsolete": "", "replace_id": "" }, "HP:0020072": { "name": [ "persistent ebv viremia", "persistent ebv viremia" ], "alt_id": [], "def": "Persistent presence of Epstein-Barr virus in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0032248" ], "is_obsolete": "", "replace_id": "" }, "HP:0020073": { "name": [ "hypopigmented macule", "hypopigmented macule" ], "alt_id": [], "def": "A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.", "synonym": [], "xref": [], "is_a": [ "HP:0012733" ], "is_obsolete": "", "replace_id": "" }, "HP:0020074": { "name": [ "crystalluria", "crystalluria" ], "alt_id": [], "def": "The presence of crystals in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0003110" ], "is_obsolete": "", "replace_id": "" }, "HP:0020075": { "name": [ "leucine crystalluria", "leucine crystalluria" ], "alt_id": [], "def": "The presence of leuucine crystals in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0020074" ], "is_obsolete": "", "replace_id": "" }, "HP:0020076": { "name": [ "wrist ganglion", "wrist ganglion" ], "alt_id": [], "def": "A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule.", "synonym": [ [ "ganglion cyst of the wrist", "ganglion cyst of the wrist" ] ], "xref": [], "is_a": [ "HP:0003019" ], "is_obsolete": "", "replace_id": "" }, "HP:0020077": { "name": [ "carnitinuria", "carnitinuria" ], "alt_id": [], "def": "An elevated level of carnitine in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031980" ], "is_obsolete": "", "replace_id": "" }, "HP:0020078": { "name": [ "alaninuria", "alaninuria" ], "alt_id": [], "def": "An increased level of alanine in the urine.", "synonym": [ [ "increased urinary alanine", "increase urinary alanine" ] ], "xref": [], "is_a": [ "HP:0033100" ], "is_obsolete": "", "replace_id": "" }, "HP:0020079": { "name": [ "beta - alaninuria", "beta - alaninuria" ], "alt_id": [], "def": "An increased level of beta-alanine in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033098" ], "is_obsolete": "", "replace_id": "" }, "HP:0020080": { "name": [ "erythrocyte inclusion bodies", "erythrocyte inclusion body" ], "alt_id": [], "def": "Nuclear or cytoplasmic aggregates of substances in red blood cells.", "synonym": [], "xref": [], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0020081": { "name": [ "pappenheimer bodies", "pappenheimer body" ], "alt_id": [], "def": "A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain).", "synonym": [], "xref": [], "is_a": [ "HP:0020080" ], "is_obsolete": "", "replace_id": "" }, "HP:0020082": { "name": [ "heinz bodies", "heinz body" ], "alt_id": [], "def": "A type of erythrocyte inclusion composed of denatured hemoglobin.", "synonym": [], "xref": [], "is_a": [ "HP:0020080" ], "is_obsolete": "", "replace_id": "" }, "HP:0020083": { "name": [ "furuncle", "furuncle" ], "alt_id": [], "def": "An infection of a hair follicle that extends subcutaneously, forming an abscess.", "synonym": [ [ "boil", "boil" ] ], "xref": [], "is_a": [ "HP:0025084" ], "is_obsolete": "", "replace_id": "" }, "HP:0020084": { "name": [ "carbuncle", "carbuncle" ], "alt_id": [], "def": "A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle.", "synonym": [], "xref": [], "is_a": [ "HP:0025084" ], "is_obsolete": "", "replace_id": "" }, "HP:0020085": { "name": [ "infection following live vaccination", "infection follow live vaccination" ], "alt_id": [], "def": "An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens.", "synonym": [], "xref": [], "is_a": [ "HP:0032101" ], "is_obsolete": "", "replace_id": "" }, "HP:0020086": { "name": [ "bcgitis", "bcgitis" ], "alt_id": [], "def": "Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.", "synonym": [], "xref": [], "is_a": [ "HP:0020085" ], "is_obsolete": "", "replace_id": "" }, "HP:0020087": { "name": [ "bcgosis", "bcgosis" ], "alt_id": [ "HP:0031698" ], "def": "Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.", "synonym": [ [ "bcgiosis", "bcgiosis" ], [ "disseminated bacillus calmette - guerin infection", "disseminate bacillus calmette - guerin infection" ] ], "xref": [], "is_a": [ "HP:0020085" ], "is_obsolete": "", "replace_id": "" }, "HP:0020088": { "name": [ "post - vaccination measles", "post - vaccination measles" ], "alt_id": [], "def": "Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases.", "synonym": [ [ "vaccine associated measles", "vaccine associate measles" ] ], "xref": [], "is_a": [ "HP:0020085" ], "is_obsolete": "", "replace_id": "" }, "HP:0020089": { "name": [ "post - vaccination rubella", "post - vaccination rubella" ], "alt_id": [], "def": "Infection with the rubella virus of the live-attenuated vaccine.", "synonym": [], "xref": [], "is_a": [ "HP:0020085" ], "is_obsolete": "", "replace_id": "" }, "HP:0020090": { "name": [ "post - vaccination polio", "post - vaccination polio" ], "alt_id": [], "def": "Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise.", "synonym": [], "xref": [], "is_a": [ "HP:0020085" ], "is_obsolete": "", "replace_id": "" }, "HP:0020091": { "name": [ "post - vaccination rotavirus infection", "post - vaccination rotavirus infection" ], "alt_id": [], "def": "Infection with live attenuated rotavirus vaccine following vaccination.", "synonym": [], "xref": [], "is_a": [ "HP:0020085" ], "is_obsolete": "", "replace_id": "" }, "HP:0020093": { "name": [ "recurrent deep organ abscess formation", "recurrent deep organ abscess formation" ], "alt_id": [], "def": "Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ.", "synonym": [], "xref": [], "is_a": [ "HP:0032169" ], "is_obsolete": "", "replace_id": "" }, "HP:0020095": { "name": [ "prolonged need of intravenous antibiotic therapy", "prolonged need of intravenous antibiotic therapy" ], "alt_id": [], "def": "Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time.", "synonym": [], "xref": [], "is_a": [ "HP:0032169" ], "is_obsolete": "", "replace_id": "" }, "HP:0020096": { "name": [ "recurrent streptococcal infections", "recurrent streptococcal infection" ], "alt_id": [], "def": "Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections.", "synonym": [], "xref": [], "is_a": [ "HP:0002718" ], "is_obsolete": "", "replace_id": "" }, "HP:0020097": { "name": [ "infection due to encapsulated bacteria", "infection due to encapsulated bacteria" ], "alt_id": [], "def": "An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines.", "synonym": [], "xref": [], "is_a": [ "HP:0032260" ], "is_obsolete": "", "replace_id": "" }, "HP:0020098": { "name": [ "herpes encephalitis", "herpes encephalitis" ], "alt_id": [], "def": "Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction.", "synonym": [], "xref": [], "is_a": [ "HP:0033993" ], "is_obsolete": "", "replace_id": "" }, "HP:0020099": { "name": [ "severe norovirus infection", "severe norovirus infection" ], "alt_id": [], "def": "An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals.", "synonym": [], "xref": [], "is_a": [ "HP:0032169" ], "is_obsolete": "", "replace_id": "" }, "HP:0020100": { "name": [ "unusual fungal infection", "unusual fungal infection" ], "alt_id": [], "def": "An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent.", "synonym": [], "xref": [], "is_a": [ "HP:0032101" ], "is_obsolete": "", "replace_id": "" }, "HP:0020101": { "name": [ "invasive fungal infection", "invasive fungal infection" ], "alt_id": [], "def": "Fungal infection characterized by invasion of host tissues.", "synonym": [], "xref": [], "is_a": [ "HP:0020100" ], "is_obsolete": "", "replace_id": "" }, "HP:0020102": { "name": [ "pneumocystis jirovecii pneumonia", "pneumocystis jirovecii pneumonia" ], "alt_id": [], "def": "An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.", "synonym": [], "xref": [], "is_a": [ "HP:0032255" ], "is_obsolete": "", "replace_id": "" }, "HP:0020103": { "name": [ "invasive pulmonary aspergillosis", "invasive pulmonary aspergillosis" ], "alt_id": [], "def": "Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis.", "synonym": [], "xref": [], "is_a": [ "HP:0020101" ], "is_obsolete": "", "replace_id": "" }, "HP:0020104": { "name": [ "unusual protozoan infection", "unusual protozoan infection" ], "alt_id": [], "def": "An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent.", "synonym": [], "xref": [], "is_a": [ "HP:0032101" ], "is_obsolete": "", "replace_id": "" }, "HP:0020105": { "name": [ "severe toxoplasmosis", "severe toxoplasmosis" ], "alt_id": [], "def": "Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs).", "synonym": [], "xref": [], "is_a": [ "HP:0020104" ], "is_obsolete": "", "replace_id": "" }, "HP:0020106": { "name": [ "severe giardiasis", "severe giardiasis" ], "alt_id": [], "def": "An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide.", "synonym": [], "xref": [], "is_a": [ "HP:0020104" ], "is_obsolete": "", "replace_id": "" }, "HP:0020107": { "name": [ "unusual helminthic infection", "unusual helminthic infection" ], "alt_id": [], "def": "An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth).", "synonym": [], "xref": [], "is_a": [ "HP:0032101" ], "is_obsolete": "", "replace_id": "" }, "HP:0020108": { "name": [ "unusual parasitic infection", "unusual parasitic infection" ], "alt_id": [], "def": "An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite.", "synonym": [], "xref": [], "is_a": [ "HP:0032101" ], "is_obsolete": "", "replace_id": "" }, "HP:0020110": { "name": [ "bone fracture", "bone fracture" ], "alt_id": [], "def": "A partial or complete breakage of the continuity of a bone.", "synonym": [], "xref": [], "is_a": [ "HP:0011842" ], "is_obsolete": "", "replace_id": "" }, "HP:0020111": { "name": [ "abnormal cd4+cd25+ regulatory t cell proportion", "abnormal cd4+cd25+ regulatory t cell proportion" ], "alt_id": [], "def": "A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.", "synonym": [ [ "abnormal cd4+cd25+ treg cell proportion", "abnormal cd4+cd25+ treg cell proportion" ] ], "xref": [], "is_a": [ "HP:0025540" ], "is_obsolete": "", "replace_id": "" }, "HP:0020112": { "name": [ "increased proportion of cd4+cd25+ regulatory t cells", "increase proportion of cd4+cd25+ regulatory t cell" ], "alt_id": [], "def": "An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.", "synonym": [ [ "elevated proportion of cd4+cd25+ regulatory t cells", "elevate proportion of cd4+cd25+ regulatory t cell" ], [ "increased proportion of cd4+cd25+ treg cells", "increase proportion of cd4+cd25+ treg cell" ] ], "xref": [], "is_a": [ "HP:0020111" ], "is_obsolete": "", "replace_id": "" }, "HP:0020113": { "name": [ "decreased proportion of cd4+cd25+ regulatory t cells", "decreased proportion of cd4+cd25+ regulatory t cell" ], "alt_id": [], "def": "An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.", "synonym": [ [ "decreased proportion of cd4+cd25+ treg cells", "decreased proportion of cd4+cd25+ treg cell" ], [ "reduced proportion of cd4+cd25+ regulatory t cells", "reduce proportion of cd4+cd25+ regulatory t cell" ] ], "xref": [], "is_a": [ "HP:0020111" ], "is_obsolete": "", "replace_id": "" }, "HP:0020114": { "name": [ "persistent human papillomavirus infection", "persistent human papillomavirus infection" ], "alt_id": [], "def": "Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease.", "synonym": [], "xref": [], "is_a": [ "HP:0032169" ], "is_obsolete": "", "replace_id": "" }, "HP:0020117": { "name": [ "hypoplastic dermoepidermal hemidesmosomes", "hypoplastic dermoepidermal hemidesmosomes" ], "alt_id": [], "def": "Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.", "synonym": [], "xref": [], "is_a": [ "HP:0032449" ], "is_obsolete": "", "replace_id": "" }, "HP:0020118": { "name": [ "radial artery aplasia", "radial artery aplasia" ], "alt_id": [], "def": "Congenital absence of the radial artery.", "synonym": [], "xref": [], "is_a": [ "HP:0031640" ], "is_obsolete": "", "replace_id": "" }, "HP:0020119": { "name": [ "abnormal retinal nerve fiber layer morphology", "abnormal retinal nerve fiber layer morphology" ], "alt_id": [], "def": "A structural abnormality of the retinal nerve fiber layer", "synonym": [ [ "abnormal retinal nerve fibre layer morphology", "abnormal retinal nerve fibre layer morphology" ] ], "xref": [], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0020120": { "name": [ "retinal nerve fiber edema", "retinal nerve fiber edema" ], "alt_id": [], "def": "Swelling (edema) of the retinal nerve fibers.", "synonym": [ [ "retinal nerve fibre oedema", "retinal nerve fibre oedema" ] ], "xref": [], "is_a": [ "HP:0020119" ], "is_obsolete": "", "replace_id": "" }, "HP:0020121": { "name": [ "conception by assisted reproductive technology", "conception by assisted reproductive technology" ], "alt_id": [], "def": "A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation.", "synonym": [], "xref": [], "is_a": [ "HP:0032443" ], "is_obsolete": "", "replace_id": "" }, "HP:0020122": { "name": [ "bite cells", "bite cell" ], "alt_id": [], "def": "Red blood cells that appear to have parts of them bitten away.", "synonym": [ [ "blister cells", "blister cell" ], [ "degmacytes", "degmacytes" ] ], "xref": [], "is_a": [ "HP:0004447" ], "is_obsolete": "", "replace_id": "" }, "HP:0020123": { "name": [ "tympanosclerosis", "tympanosclerosis" ], "alt_id": [], "def": "A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear.", "synonym": [ [ "tympanic calcification", "tympanic calcification" ] ], "xref": [], "is_a": [ "HP:0008609" ], "is_obsolete": "", "replace_id": "" }, "HP:0020125": { "name": [ "spontaneous conjunctival filtering bleb", "spontaneous conjunctival filter bleb" ], "alt_id": [], "def": "Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma.", "synonym": [ [ "conjunctival avascular cysts ( filtering blebs )", "conjunctival avascular cyst ( filter bleb )" ], [ "spontaneous filtering bleb", "spontaneous filter bleb" ] ], "xref": [], "is_a": [ "HP:0000502" ], "is_obsolete": "", "replace_id": "" }, "HP:0020126": { "name": [ "prostate mass", "prostate mass" ], "alt_id": [], "def": "A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.", "synonym": [], "xref": [], "is_a": [ "HP:0008775" ], "is_obsolete": "", "replace_id": "" }, "HP:0020127": { "name": [ "periarticular soft - tissue mass", "periarticular soft - tissue mass" ], "alt_id": [], "def": "A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.", "synonym": [], "xref": [], "is_a": [ "HP:0001367" ], "is_obsolete": "", "replace_id": "" }, "HP:0020128": { "name": [ "aplasia of the olfactory tract", "aplasia of the olfactory tract" ], "alt_id": [], "def": "Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell.", "synonym": [], "xref": [], "is_a": [ "HP:0100547" ], "is_obsolete": "", "replace_id": "" }, "HP:0020129": { "name": [ "abnormal urine protein level", "abnormal urine protein level" ], "alt_id": [], "def": "Any deviation of the concentration of one or more proteins in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0020130": { "name": [ "increased urinary neutrophil gelatinase - associated lipocalin", "increase urinary neutrophil gelatinase - associate lipocalin" ], "alt_id": [], "def": "An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter).", "synonym": [ [ "increased urinary ngal", "increase urinary ngal" ] ], "xref": [], "is_a": [ "HP:0020129" ], "is_obsolete": "", "replace_id": "" }, "HP:0020131": { "name": [ "abnormal tubular basement membrane morphology", "abnormal tubular basement membrane morphology" ], "alt_id": [], "def": "Abnormal structure of the basement membrane of the renal tubulus.", "synonym": [], "xref": [], "is_a": [ "HP:0000091" ], "is_obsolete": "", "replace_id": "" }, "HP:0020132": { "name": [ "thickening of the tubular basement membrane", "thickening of the tubular basement membrane" ], "alt_id": [], "def": "Increase in thickness of the basement membrane of the tubulus of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0020131" ], "is_obsolete": "", "replace_id": "" }, "HP:0020133": { "name": [ "podocyte hypertrophy", "podocyte hypertrophy" ], "alt_id": [], "def": "Increased visceral epithelial cell size, with or without cytoplasmic protein droplets.", "synonym": [ [ "glomerular visceral epithelial cell hypertrophy", "glomerular visceral epithelial cell hypertrophy" ], [ "hypertrophy of visceral epithelial cells", "hypertrophy of visceral epithelial cell" ] ], "xref": [], "is_a": [ "HP:0031265" ], "is_obsolete": "", "replace_id": "" }, "HP:0020134": { "name": [ "increased urine neutrophil count", "increase urine neutrophil count" ], "alt_id": [], "def": "Abnormally increased count of neutrophils in urine.", "synonym": [], "xref": [], "is_a": [ "HP:0012085" ], "is_obsolete": "", "replace_id": "" }, "HP:0020135": { "name": [ "myofibromatosis", "myofibromatosis" ], "alt_id": [], "def": "A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance.", "synonym": [], "xref": [], "is_a": [ "HP:0031459" ], "is_obsolete": "", "replace_id": "" }, "HP:0020136": { "name": [ "anticardiolipin igg antibody positivity", "anticardiolipin igg antibody positivity" ], "alt_id": [], "def": "The presence of circulating IgG autoantibodies to cardiolipin.", "synonym": [], "xref": [], "is_a": [ "HP:0003613" ], "is_obsolete": "", "replace_id": "" }, "HP:0020137": { "name": [ "anticardiolipin igm antibody positivity", "anticardiolipin igm antibody positivity" ], "alt_id": [], "def": "The presence of circulating IgM autoantibodies to cardiolipin.", "synonym": [], "xref": [], "is_a": [ "HP:0003613" ], "is_obsolete": "", "replace_id": "" }, "HP:0020138": { "name": [ "history of recent animal bite", "history of recent animal bite" ], "alt_id": [], "def": "Medical history of a recent bite injury due to an animal.", "synonym": [], "xref": [], "is_a": [ "HP:0032443" ], "is_obsolete": "", "replace_id": "" }, "HP:0020139": { "name": [ "history of recent insect bite", "history of recent insect bite" ], "alt_id": [], "def": "Medical history of a recent bite injury due to an insect.", "synonym": [], "xref": [], "is_a": [ "HP:0032443" ], "is_obsolete": "", "replace_id": "" }, "HP:0020140": { "name": [ "history of recent tick bite", "history of recent tick bite" ], "alt_id": [], "def": "Medical history of a recent bite injury due to a tick.", "synonym": [], "xref": [], "is_a": [ "HP:0020139" ], "is_obsolete": "", "replace_id": "" }, "HP:0020141": { "name": [ "blood pressure substantially higher in legs than arms", "blood pressure substantially high in legs than arm" ], "alt_id": [], "def": "An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.", "synonym": [ [ "blood pressure substantially higher in lower than upper extremities", "blood pressure substantially higher in low than upper extremity" ], [ "blood pressure substantially lower in arms than legs", "blood pressure substantially low in arm than leg" ], [ "blood pressure substantially lower in upper than lower extremities", "blood pressure substantially low in upper than low extremity" ] ], "xref": [], "is_a": [ "HP:0030972" ], "is_obsolete": "", "replace_id": "" }, "HP:0020142": { "name": [ "blood pressure substantially higher in arms than legs", "blood pressure substantially high in arm than leg" ], "alt_id": [], "def": "An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.", "synonym": [ [ "blood pressure substantially higher in upper than lower extremities", "blood pressure substantially high in upper than low extremity" ], [ "increased arm - leg blood pressure gradient", "increase arm - leg blood pressure gradient" ] ], "xref": [], "is_a": [ "HP:0030972" ], "is_obsolete": "", "replace_id": "" }, "HP:0020143": { "name": [ "tracheal duplication cyst", "tracheal duplication cyst" ], "alt_id": [], "def": "A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium.", "synonym": [], "xref": [], "is_a": [ "HP:0002778" ], "is_obsolete": "", "replace_id": "" }, "HP:0020144": { "name": [ "calcium phosphate crystalluria", "calcium phosphate crystalluria" ], "alt_id": [], "def": "The presence of calcium phosphate crystals in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0020074" ], "is_obsolete": "", "replace_id": "" }, "HP:0020145": { "name": [ "calcium oxalate crystalluria", "calcium oxalate crystalluria" ], "alt_id": [], "def": "The presence of calcium oxalate crystals in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0020074" ], "is_obsolete": "", "replace_id": "" }, "HP:0020146": { "name": [ "calcium carbonate crystalluria", "calcium carbonate crystalluria" ], "alt_id": [], "def": "The presence of calcium carbonate crystals in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0020074" ], "is_obsolete": "", "replace_id": "" }, "HP:0020147": { "name": [ "2 - methylbutyryl glycinuria", "2 - methylbutyryl glycinuria" ], "alt_id": [], "def": "Increased concentration of 2-methylbutyryl glycine in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033097" ], "is_obsolete": "", "replace_id": "" }, "HP:0020148": { "name": [ "increased circulating mead acid level", "increase circulate mead acid level" ], "alt_id": [], "def": "An abnormally elevated concentration od mead acid in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0003455" ], "is_obsolete": "", "replace_id": "" }, "HP:0020149": { "name": [ "elevated circulating succinate", "elevate circulate succinate" ], "alt_id": [], "def": "An increase concentration of succinate in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010995" ], "is_obsolete": "", "replace_id": "" }, "HP:0020150": { "name": [ "elevated urinary uromodulin", "elevate urinary uromodulin" ], "alt_id": [], "def": "An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine.", "synonym": [ [ "elevated urinary tamm - horsfall protein concentration", "elevate urinary tamm - horsfall protein concentration" ] ], "xref": [], "is_a": [ "HP:0020129" ], "is_obsolete": "", "replace_id": "" }, "HP:0020151": { "name": [ "anti - dsdna antibody positivity", "anti - dsdna antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.", "synonym": [], "xref": [], "is_a": [ "HP:0003493" ], "is_obsolete": "", "replace_id": "" }, "HP:0020152": { "name": [ "distal joint laxity", "distal joint laxity" ], "alt_id": [], "def": "Lack of stability of a distal joint (e.g., finger).", "synonym": [], "xref": [], "is_a": [ "HP:0001388" ], "is_obsolete": "", "replace_id": "" }, "HP:0020153": { "name": [ "positive blood 1,3 beta glucan test", "positive blood 1,3 beta glucan test" ], "alt_id": [], "def": "Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis.", "synonym": [], "xref": [], "is_a": [ "HP:0410172" ], "is_obsolete": "", "replace_id": "" }, "HP:0020154": { "name": [ "nevus comedonicus", "nevus comedonicus" ], "alt_id": [], "def": "A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones.", "synonym": [], "xref": [], "is_a": [ "HP:0010816" ], "is_obsolete": "", "replace_id": "" }, "HP:0020155": { "name": [ "abnormal oocyte morphology", "abnormal oocyte morphology" ], "alt_id": [], "def": "An abnormal structure of the female germ cell (egg cell).", "synonym": [], "xref": [], "is_a": [ "HP:0025461" ], "is_obsolete": "", "replace_id": "" }, "HP:0020156": { "name": [ "abnormal zona pellucida morphology", "abnormal zona pellucida morphology" ], "alt_id": [], "def": "Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida.", "synonym": [], "xref": [], "is_a": [ "HP:0020155" ], "is_obsolete": "", "replace_id": "" }, "HP:0020157": { "name": [ "thin zona pellucida", "thin zona pellucida" ], "alt_id": [], "def": "Reduced thickness of the zona pellucida.", "synonym": [], "xref": [], "is_a": [ "HP:0020156" ], "is_obsolete": "", "replace_id": "" }, "HP:0020158": { "name": [ "increased circulating adrenic acid concentration", "increase circulate adrenic acid concentration" ], "alt_id": [], "def": "An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation.", "synonym": [ [ "increased circulating docosatetraenoate level", "increase circulate docosatetraenoate level" ] ], "xref": [], "is_a": [ "HP:0004359" ], "is_obsolete": "", "replace_id": "" }, "HP:0020159": { "name": [ "reduced response to gonadotropin - releasing hormone stimulation test", "reduce response to gonadotropin - release hormone stimulation test" ], "alt_id": [], "def": "Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels.", "synonym": [ [ "reduce response to gnrh stimulation test", "reduce response to gnrh stimulation test" ] ], "xref": [], "is_a": [ "HP:0031279" ], "is_obsolete": "", "replace_id": "" }, "HP:0020160": { "name": [ "gm1 - ganglioside accumulation", "gm1 - ganglioside accumulation" ], "alt_id": [], "def": "Cellular accumulation of GM1 gangliosides.", "synonym": [], "xref": [], "is_a": [ "HP:0004345" ], "is_obsolete": "", "replace_id": "" }, "HP:0020161": { "name": [ "branch retinal artery occlusion", "branch retinal artery occlusion" ], "alt_id": [], "def": "Blockage of a branch of the retinal artery. This can cause loss of a section of visual field.", "synonym": [], "xref": [], "is_a": [ "HP:0025326" ], "is_obsolete": "", "replace_id": "" }, "HP:0020163": { "name": [ "cilioretinal artery occlusion", "cilioretinal artery occlusion" ], "alt_id": [], "def": "Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers.", "synonym": [], "xref": [], "is_a": [ "HP:0025326" ], "is_obsolete": "", "replace_id": "" }, "HP:0020164": { "name": [ "ophthalmic artery occlusion", "ophthalmic artery occlusion" ], "alt_id": [], "def": "A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs.", "synonym": [], "xref": [], "is_a": [ "HP:0025326" ], "is_obsolete": "", "replace_id": "" }, "HP:0020165": { "name": [ "branch retinal vein occlusion", "branch retinal vein occlusion" ], "alt_id": [], "def": "Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels.", "synonym": [], "xref": [], "is_a": [ "HP:0012636" ], "is_obsolete": "", "replace_id": "" }, "HP:0020166": { "name": [ "central retinal vein occlusion", "central retinal vein occlusion" ], "alt_id": [], "def": "Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis.", "synonym": [], "xref": [], "is_a": [ "HP:0012636" ], "is_obsolete": "", "replace_id": "" }, "HP:0020167": { "name": [ "hemiretinal vein occlusion", "hemiretinal vein occlusion" ], "alt_id": [], "def": "A variant of central retinal vein occlusions that involves the superior or inferior half of the retina.", "synonym": [], "xref": [], "is_a": [ "HP:0012636" ], "is_obsolete": "", "replace_id": "" }, "HP:0020169": { "name": [ "abnormal drug response", "abnormal drug response" ], "alt_id": [], "def": "An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy.", "synonym": [], "xref": [], "is_a": [ "HP:0001939" ], "is_obsolete": "", "replace_id": "" }, "HP:0020170": { "name": [ "increased blood drug concentration", "increase blood drug concentration" ], "alt_id": [], "def": "High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.", "synonym": [ [ "elevated blood drug concentration", "elevate blood drug concentration" ], [ "elevated plasma drug concentration", "elevate plasma drug concentration" ], [ "elevated serum drug concentrations", "elevate serum drug concentration" ], [ "increased plasma drug concentration", "increase plasma drug concentration" ], [ "increased serum drug concentration", "increase serum drug concentration" ] ], "xref": [], "is_a": [ "HP:0020169" ], "is_obsolete": "", "replace_id": "" }, "HP:0020171": { "name": [ "decreased blood drug concentration", "decrease blood drug concentration" ], "alt_id": [], "def": "Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.", "synonym": [ [ "decreased plasma drug concentration", "decrease plasma drug concentration" ], [ "decreased serum drug concentration", "decrease serum drug concentration" ], [ "reduced blood drug concentration", "reduce blood drug concentration" ], [ "reduced plasma drug concentration", "reduce plasma drug concentration" ], [ "reduced serum drug concentrations", "reduce serum drug concentration" ] ], "xref": [], "is_a": [ "HP:0020169" ], "is_obsolete": "", "replace_id": "" }, "HP:0020172": { "name": [ "adverse drug response", "adverse drug response" ], "alt_id": [], "def": "An unpleasant or harmful reaction resulting from treatment with a drug.", "synonym": [ [ "adverse drug reaction", "adverse drug reaction" ], [ "drug - induced reaction", "drug - induce reaction" ], [ "drug - induced response", "drug - induce response" ], [ "toxic drug response", "toxic drug response" ] ], "xref": [], "is_a": [ "HP:0020169" ], "is_obsolete": "", "replace_id": "" }, "HP:0020173": { "name": [ "reduced drug efficacy", "reduce drug efficacy" ], "alt_id": [], "def": "Decreased response to a drug intervention in comparison to the expected response.", "synonym": [ [ "decreased drug efficacy", "decrease drug efficacy" ] ], "xref": [], "is_a": [ "HP:0020169" ], "is_obsolete": "", "replace_id": "" }, "HP:0020174": { "name": [ "refractory drug response", "refractory drug response" ], "alt_id": [], "def": "Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course.", "synonym": [ [ "drug resistance", "drug resistance" ] ], "xref": [], "is_a": [ "HP:0020169" ], "is_obsolete": "", "replace_id": "" }, "HP:0020175": { "name": [ "reduced cholinesterase level", "reduced cholinesterase level" ], "alt_id": [], "def": "A decreased amount of cholinesterase in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0020176": { "name": [ "cholesterol crystalluria", "cholesterol crystalluria" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0020074" ], "is_obsolete": "", "replace_id": "" }, "HP:0020177": { "name": [ "abnormal proportion of cd8 - positive , alpha - beta temra t cells", "abnormal proportion of cd8 - positive , alpha - beta temra t cell" ], "alt_id": [], "def": "An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.", "synonym": [ [ "abnormal proportion of effector memory cd8 - positive , alpha - beta t cells , terminally differentiated", "abnormal proportion of effector memory cd8 - positive , alpha - beta t cell , terminally differentiate" ] ], "xref": [], "is_a": [ "HP:0410380" ], "is_obsolete": "", "replace_id": "" }, "HP:0020178": { "name": [ "abnormal dendritic cell count", "abnormal dendritic cell count" ], "alt_id": [], "def": "A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative).", "synonym": [], "xref": [], "is_a": [ "HP:0011893" ], "is_obsolete": "", "replace_id": "" }, "HP:0020179": { "name": [ "abnormal haptoglobin level", "abnormal haptoglobin level" ], "alt_id": [], "def": "A deviation from the normal concentration of haptoglobin in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0020180": { "name": [ "elevated haptoglobin level", "elevate haptoglobin level" ], "alt_id": [], "def": "An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation.", "synonym": [], "xref": [], "is_a": [ "HP:0020179" ], "is_obsolete": "", "replace_id": "" }, "HP:0020181": { "name": [ "reduced haptoglobin level", "reduce haptoglobin level" ], "alt_id": [], "def": "An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.", "synonym": [], "xref": [], "is_a": [ "HP:0020179" ], "is_obsolete": "", "replace_id": "" }, "HP:0020182": { "name": [ "abnormal a - type atrial natriuretic peptide level", "abnormal a - type atrial natriuretic peptide level" ], "alt_id": [], "def": "A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0020183": { "name": [ "increased circulating a - type natriuretic peptide level", "increase circulate a - type natriuretic peptide level" ], "alt_id": [], "def": "A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.", "synonym": [], "xref": [], "is_a": [ "HP:0020182" ], "is_obsolete": "", "replace_id": "" }, "HP:0020184": { "name": [ "decreased circulating a - type natriuretic peptide level", "decrease circulate a - type natriuretic peptide level" ], "alt_id": [], "def": "A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.", "synonym": [], "xref": [], "is_a": [ "HP:0020182" ], "is_obsolete": "", "replace_id": "" }, "HP:0020185": { "name": [ "superior cerebellar dysplasia", "superior cerebellar dysplasia" ], "alt_id": [], "def": "Abnormal morphological development of the superior part of the cerebellum.", "synonym": [], "xref": [], "is_a": [ "HP:0007033" ], "is_obsolete": "", "replace_id": "" }, "HP:0020186": { "name": [ "multilobulated spleen", "multilobulated spleen" ], "alt_id": [], "def": "The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen.", "synonym": [ [ "multi - lobulated spleen", "multi - lobulated spleen" ] ], "xref": [], "is_a": [ "HP:0025408" ], "is_obsolete": "", "replace_id": "" }, "HP:0020187": { "name": [ "thick pachygyria", "thick pachygyria" ], "alt_id": [], "def": "Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.", "synonym": [ [ "pachygyria with cortical thickness > 10 mm", "pachygyria with cortical thickness > 10 mm" ], [ "pachygyria with cortical thickness above 10 mm", "pachygyria with cortical thickness above 10 mm" ] ], "xref": [], "is_a": [ "HP:0001302" ], "is_obsolete": "", "replace_id": "" }, "HP:0020188": { "name": [ "anterior predominant pachygyria with 5 - 10 mm cortical thickness", "anterior predominant pachygyria with 5 - 10 mm cortical thickness" ], "alt_id": [], "def": "Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.", "synonym": [], "xref": [], "is_a": [ "HP:0020192" ], "is_obsolete": "", "replace_id": "" }, "HP:0020189": { "name": [ "posterior predominant thick cortex pachygyria", "posterior predominant thick cortex pachygyria" ], "alt_id": [], "def": "Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.", "synonym": [ [ "occipital predomimant classic pachygyria", "occipital predomimant classic pachygyria" ], [ "pachygyria with cortical thickness over 10 mm posterior predominant", "pachygyria with cortical thickness over 10 mm posterior predominant" ] ], "xref": [], "is_a": [ "HP:0020187" ], "is_obsolete": "", "replace_id": "" }, "HP:0020190": { "name": [ "perisylvian predominant thick cortex pachygyria", "perisylvian predominant thick cortex pachygyria" ], "alt_id": [], "def": "Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.", "synonym": [ [ "pachygyria with cortical thickness > 10 mm perisylvian predominant", "pachygyria with cortical thickness > 10 mm perisylvian predominant" ] ], "xref": [], "is_a": [ "HP:0020187" ], "is_obsolete": "", "replace_id": "" }, "HP:0020191": { "name": [ "anterior predominant thick cortex pachygyria", "anterior predominant thick cortex pachygyria" ], "alt_id": [], "def": "Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes.", "synonym": [ [ "pachygyria with cortical thickness > 10 mm anterior predominant", "pachygyria with cortical thickness > 10 mm anterior predominant" ] ], "xref": [], "is_a": [ "HP:0020187" ], "is_obsolete": "", "replace_id": "" }, "HP:0020192": { "name": [ "pachygyria with 5 - 10 mm cortical thickness", "pachygyria with 5 - 10 mm cortical thickness" ], "alt_id": [], "def": "Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.", "synonym": [], "xref": [], "is_a": [ "HP:0001302" ], "is_obsolete": "", "replace_id": "" }, "HP:0020193": { "name": [ "prolonged reptilase time", "prolonged reptilase time" ], "alt_id": [], "def": "An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds.", "synonym": [], "xref": [], "is_a": [ "HP:0001928" ], "is_obsolete": "", "replace_id": "" }, "HP:0020194": { "name": [ "iga heavy chain paraproteinemia", "iga heavy chain paraproteinemia" ], "alt_id": [], "def": "An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.", "synonym": [ [ "alpha heavy chain disease", "alpha heavy chain disease" ] ], "xref": [], "is_a": [ "HP:0031049" ], "is_obsolete": "", "replace_id": "" }, "HP:0020195": { "name": [ "igg heavy chain paraproteinemia", "igg heavy chain paraproteinemia" ], "alt_id": [], "def": "An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.", "synonym": [ [ "gamma heavy - chain disease", "gamma heavy - chain disease" ] ], "xref": [], "is_a": [ "HP:0031049" ], "is_obsolete": "", "replace_id": "" }, "HP:0020196": { "name": [ "igm heavy chain paraproteinemia", "igm heavy chain paraproteinemia" ], "alt_id": [], "def": "An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.", "synonym": [], "xref": [], "is_a": [ "HP:0031049" ], "is_obsolete": "", "replace_id": "" }, "HP:0020197": { "name": [ "increased circulating arachidonic acid concentration", "increase circulate arachidonic acid concentration" ], "alt_id": [], "def": "An increased circulation of arachidonic acid in the blood circulation.", "synonym": [ [ "increased circulating arachidonate level", "increase circulate arachidonate level" ], [ "increased circulating arachidonic acid level", "increase circulate arachidonic acid level" ] ], "xref": [], "is_a": [ "HP:0010964" ], "is_obsolete": "", "replace_id": "" }, "HP:0020198": { "name": [ "abnormal circulating 18 - hydroxycorticosterone level", "abnormal circulate 18 - hydroxycorticosterone level" ], "alt_id": [], "def": "Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0012112" ], "is_obsolete": "", "replace_id": "" }, "HP:0020199": { "name": [ "decreased circulating 18 - hydroxycortisone level", "decrease circulate 18 - hydroxycortisone level" ], "alt_id": [], "def": "A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0020198" ], "is_obsolete": "", "replace_id": "" }, "HP:0020200": { "name": [ "increased circulating 18 - hydroxycortisone level", "increase circulate 18 - hydroxycortisone level" ], "alt_id": [], "def": "An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0020198" ], "is_obsolete": "", "replace_id": "" }, "HP:0020201": { "name": [ "abnormal sarcomere morphology", "abnormal sarcomere morphology" ], "alt_id": [], "def": "Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs.", "synonym": [], "xref": [], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0020202": { "name": [ "abnormal z disc morphology", "abnormal z disc morphology" ], "alt_id": [], "def": "Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.", "synonym": [], "xref": [], "is_a": [ "HP:0020201" ], "is_obsolete": "", "replace_id": "" }, "HP:0020203": { "name": [ "z - band streaming", "z - band stream" ], "alt_id": [], "def": "Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change.", "synonym": [], "xref": [], "is_a": [ "HP:0020202" ], "is_obsolete": "", "replace_id": "" }, "HP:0020204": { "name": [ "tubulointerstitial bacterial infiltration", "tubulointerstitial bacterial infiltration" ], "alt_id": [], "def": "Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains.", "synonym": [ [ "renal tubulointerstitial bacterial organisms", "renal tubulointerstitial bacterial organism" ] ], "xref": [], "is_a": [ "HP:0032635" ], "is_obsolete": "", "replace_id": "" }, "HP:0020205": { "name": [ "tubulointerstitial fungal infiltration", "tubulointerstitial fungal infiltration" ], "alt_id": [], "def": "Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains.", "synonym": [ [ "renal tubulointerstitial fungal organisms", "renal tubulointerstitial fungal organism" ] ], "xref": [], "is_a": [ "HP:0032635" ], "is_obsolete": "", "replace_id": "" }, "HP:0020206": { "name": [ "simple ear", "simple ear" ], "alt_id": [], "def": "The pinna has fewer folds and grooves than usual.", "synonym": [], "xref": [], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0020207": { "name": [ "reflex seizure", "reflex seizure" ], "alt_id": [], "def": "Seizures precipitated by exogenous stimuli.", "synonym": [], "xref": [], "is_a": [ "HP:0001250" ], "is_obsolete": "", "replace_id": "" }, "HP:0020208": { "name": [ "eating - induced seizure", "eat - induced seizure" ], "alt_id": [], "def": "A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.", "synonym": [], "xref": [], "is_a": [ "HP:0020207" ], "is_obsolete": "", "replace_id": "" }, "HP:0020209": { "name": [ "hot water - induced seizure", "hot water - induced seizure" ], "alt_id": [], "def": "A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger.", "synonym": [], "xref": [], "is_a": [ "HP:0020207" ], "is_obsolete": "", "replace_id": "" }, "HP:0020210": { "name": [ "praxis - induced seizure", "praxis - induced seizure" ], "alt_id": [], "def": "A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making.", "synonym": [], "xref": [], "is_a": [ "HP:0020207" ], "is_obsolete": "", "replace_id": "" }, "HP:0020211": { "name": [ "proprioceptive - induced seizure", "proprioceptive - induced seizure" ], "alt_id": [], "def": "A seizure precipitated by movement or a change in posture.", "synonym": [], "xref": [], "is_a": [ "HP:0020207" ], "is_obsolete": "", "replace_id": "" }, "HP:0020212": { "name": [ "reading - induced seizure", "read - induced seizure" ], "alt_id": [], "def": "A seizure precipitated by reading.", "synonym": [], "xref": [], "is_a": [ "HP:0020207" ], "is_obsolete": "", "replace_id": "" }, "HP:0020213": { "name": [ "somatosensory - induced seizure", "somatosensory - induced seizure" ], "alt_id": [], "def": "A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise.", "synonym": [], "xref": [], "is_a": [ "HP:0020207" ], "is_obsolete": "", "replace_id": "" }, "HP:0020214": { "name": [ "startle - induced seizure", "startle - induced seizure" ], "alt_id": [], "def": "Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus.", "synonym": [], "xref": [], "is_a": [ "HP:0020207" ], "is_obsolete": "", "replace_id": "" }, "HP:0020215": { "name": [ "thinking - induced seizure", "think - induced seizure" ], "alt_id": [], "def": "Seizures induced by thinking and decision-making.\\ncomment:", "synonym": [ [ "cognition induced seizure", "cognition induce seizure" ] ], "xref": [], "is_a": [ "HP:0020207" ], "is_obsolete": "", "replace_id": "" }, "HP:0020216": { "name": [ "visually - induced seizure", "visually - induced seizure" ], "alt_id": [], "def": "Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect.", "synonym": [ [ "photosensitive seizure", "photosensitive seizure" ] ], "xref": [], "is_a": [ "HP:0020207" ], "is_obsolete": "", "replace_id": "" }, "HP:0020217": { "name": [ "focal aware motor seizure", "focal aware motor seizure" ], "alt_id": [], "def": "A type of focal motor seizure in which awareness is retained throughout the seizure.", "synonym": [ [ "focal motor aware seizure", "focal motor aware seizure" ] ], "xref": [], "is_a": [ "HP:0002349", "HP:0011153" ], "is_obsolete": "", "replace_id": "" }, "HP:0020218": { "name": [ "focal aware atonic seizure", "focal aware atonic seizure" ], "alt_id": [], "def": "A type of focal atonic seizure during which awareness is fully retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0020217", "HP:0020220" ], "is_obsolete": "", "replace_id": "" }, "HP:0020219": { "name": [ "motor seizure", "motor seizure" ], "alt_id": [], "def": "A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.", "synonym": [], "xref": [], "is_a": [ "HP:0001250" ], "is_obsolete": "", "replace_id": "" }, "HP:0020220": { "name": [ "focal atonic seizure", "focal atonic seizure" ], "alt_id": [], "def": "A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature.", "synonym": [ [ "localised atonic seizure", "localise atonic seizure" ], [ "localised hypotonic seizure", "localise hypotonic seizure" ], [ "localized atonic seizure", "localize atonic seizure" ], [ "localized hypotonic seizure", "localize hypotonic seizure" ], [ "partial atonic seizure", "partial atonic seizure" ], [ "partial hypotonic seizure", "partial hypotonic seizure" ], [ "segmental atonic seizure", "segmental atonic seizure" ], [ "segmental hypotonic seizure", "segmental hypotonic seizure" ] ], "xref": [], "is_a": [ "HP:0010819", "HP:0011153" ], "is_obsolete": "", "replace_id": "" }, "HP:0020221": { "name": [ "clonic seizure", "clonic seizure" ], "alt_id": [], "def": "A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.", "synonym": [], "xref": [], "is_a": [ "HP:0020219" ], "is_obsolete": "", "replace_id": "" }, "HP:0025004": { "name": [ "hallux rigidus", "hallux rigidus" ], "alt_id": [], "def": "Osteoarthritis of the metatarsophalangeal joint of the first toe.", "synonym": [ [ "arthritis of the big toe", "arthritis of the big toe" ] ], "xref": [ "MSH:D020859", "SNOMEDCT_US:6654000", "UMLS:C0264134" ], "is_a": [ "HP:0001844" ], "is_obsolete": "", "replace_id": "" }, "HP:0025005": { "name": [ "thickening of glomerular capillary wall", "thickening of glomerular capillary wall" ], "alt_id": [], "def": "Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.", "synonym": [], "xref": [], "is_a": [ "HP:0025006" ], "is_obsolete": "", "replace_id": "" }, "HP:0025006": { "name": [ "abnormal glomerular capillary morphology", "abnormal glomerular capillary morphology" ], "alt_id": [], "def": "A structural anomaly of the capillary blood vessels in the renal glomerulus.", "synonym": [ [ "abnormalities of the glomerular capillary wall", "abnormality of the glomerular capillary wall" ] ], "xref": [], "is_a": [ "HP:0000095" ], "is_obsolete": "", "replace_id": "" }, "HP:0025007": { "name": [ "ectopic fovea", "ectopic fovea" ], "alt_id": [], "def": "An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina.", "synonym": [ [ "ectopic macula", "ectopic macula" ] ], "xref": [], "is_a": [ "HP:0000493" ], "is_obsolete": "", "replace_id": "" }, "HP:0025008": { "name": [ "tracheal tug on inspiration", "tracheal tug on inspiration" ], "alt_id": [], "def": "Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree.", "synonym": [], "xref": [], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0025009": { "name": [ "forward slanting upper incisors", "forward slant upper incisor" ], "alt_id": [], "def": "The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards.", "synonym": [ [ "forward directed upper incisors", "forward direct upper incisor" ], [ "proclination of the upper incisors", "proclination of the upper incisor" ], [ "protruding upper incisors", "protrude upper incisor" ] ], "xref": [], "is_a": [ "HP:0011062" ], "is_obsolete": "", "replace_id": "" }, "HP:0025010": { "name": [ "foveal atrophy", "foveal atrophy" ], "alt_id": [], "def": "Partial or complete loss of foveal tissue that was once present.", "synonym": [], "xref": [], "is_a": [ "HP:0000493" ], "is_obsolete": "", "replace_id": "" }, "HP:0025011": { "name": [ "pyriform aperture stenosis", "pyriform aperture stenosis" ], "alt_id": [], "def": "Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose.", "synonym": [], "xref": [], "is_a": [ "HP:0005105" ], "is_obsolete": "", "replace_id": "" }, "HP:0025012": { "name": [ "status cribrosum", "status cribrosum" ], "alt_id": [], "def": "Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations.", "synonym": [], "xref": [], "is_a": [ "HP:0002134" ], "is_obsolete": "", "replace_id": "" }, "HP:0025013": { "name": [ "decerebrate rigidity", "decerebrate rigidity" ], "alt_id": [], "def": "A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.", "synonym": [ [ "decerebrate posturing", "decerebrate posturing" ] ], "xref": [], "is_a": [ "HP:0002063" ], "is_obsolete": "", "replace_id": "" }, "HP:0025014": { "name": [ "subcutaneous spheroids", "subcutaneous spheroid" ], "alt_id": [], "def": "Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.", "synonym": [], "xref": [], "is_a": [ "HP:0001482" ], "is_obsolete": "", "replace_id": "" }, "HP:0025015": { "name": [ "abnormal vascular morphology", "abnormal vascular morphology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0002597", "HP:0030680" ], "is_obsolete": "", "replace_id": "" }, "HP:0025016": { "name": [ "abnormal capillary morphology", "abnormal capillary morphology" ], "alt_id": [], "def": "A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.", "synonym": [], "xref": [], "is_a": [ "HP:0033353" ], "is_obsolete": "", "replace_id": "" }, "HP:0025017": { "name": [ "capillary fragility", "capillary fragility" ], "alt_id": [], "def": "Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises).", "synonym": [], "xref": [], "is_a": [ "HP:0025018" ], "is_obsolete": "", "replace_id": "" }, "HP:0025018": { "name": [ "abnormal capillary physiology", "abnormal capillary physiology" ], "alt_id": [], "def": "A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.", "synonym": [], "xref": [], "is_a": [ "HP:0030163" ], "is_obsolete": "", "replace_id": "" }, "HP:0025019": { "name": [ "arterial rupture", "arterial rupture" ], "alt_id": [], "def": "Sudden breakage of an artery leading to leakage of blood from the circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0025323" ], "is_obsolete": "", "replace_id": "" }, "HP:0025020": { "name": [ "elevated prostate - specific antigen level", "elevate prostate - specific antigen level" ], "alt_id": [], "def": "An increased concentration of prostate specific antigen (PSA) in the circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0025021": { "name": [ "abnormal erythrocyte sedimentation rate", "abnormal erythrocyte sedimentation rate" ], "alt_id": [], "def": "A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.", "synonym": [ [ "abnormal esr", "abnormal esr" ], [ "abnormal westergren sedimentation rate", "abnormal westergren sedimentation rate" ] ], "xref": [], "is_a": [ "HP:0001939" ], "is_obsolete": "", "replace_id": "" }, "HP:0025022": { "name": [ "decreased erythrocyte sedimentation rate", "decrease erythrocyte sedimentation rate" ], "alt_id": [], "def": "A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.", "synonym": [ [ "decreased esr", "decrease esr" ], [ "low esr", "low esr" ] ], "xref": [], "is_a": [ "HP:0025021" ], "is_obsolete": "", "replace_id": "" }, "HP:0025023": { "name": [ "rectal atresia", "rectal atresia" ], "alt_id": [], "def": "A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.", "synonym": [ [ "atresia of the rectum", "atresia of the rectum" ] ], "xref": [], "is_a": [ "HP:0002034", "HP:0011100" ], "is_obsolete": "", "replace_id": "" }, "HP:0025024": { "name": [ "megarectum", "megarectum" ], "alt_id": [], "def": "An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum.", "synonym": [], "xref": [], "is_a": [ "HP:0002034" ], "is_obsolete": "", "replace_id": "" }, "HP:0025025": { "name": [ "rectovestibular fistula", "rectovestibular fistula" ], "alt_id": [], "def": "A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening.", "synonym": [ [ "vestibular fistula", "vestibular fistula" ] ], "xref": [], "is_a": [ "HP:0100590" ], "is_obsolete": "", "replace_id": "" }, "HP:0025026": { "name": [ "h - type rectovestibular fistula", "h - type rectovestibular fistula" ], "alt_id": [], "def": "Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract.", "synonym": [], "xref": [], "is_a": [ "HP:0025025" ], "is_obsolete": "", "replace_id": "" }, "HP:0025027": { "name": [ "osteoma cutis", "osteoma cutis" ], "alt_id": [], "def": "The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin.", "synonym": [ [ "cutaneous osteosis", "cutaneous osteosis" ], [ "miliary osteoma", "miliary osteoma" ], [ "osteomatosis", "osteomatosis" ] ], "xref": [], "is_a": [ "HP:0200036" ], "is_obsolete": "", "replace_id": "" }, "HP:0025028": { "name": [ "abnormality of enteric nervous system morphology", "abnormality of enteric nervous system morphology" ], "alt_id": [], "def": "A structural anomaly of nerves of the enteric nervous system.", "synonym": [], "xref": [], "is_a": [ "HP:0002242", "HP:0012331" ], "is_obsolete": "", "replace_id": "" }, "HP:0025029": { "name": [ "abnormality of enteric neuron morphology", "abnormality of enteric neuron morphology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0025028" ], "is_obsolete": "", "replace_id": "" }, "HP:0025030": { "name": [ "enteric neuronal degeneration", "enteric neuronal degeneration" ], "alt_id": [], "def": "Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons.", "synonym": [ [ "degenerative enteric neuropathy", "degenerative enteric neuropathy" ] ], "xref": [], "is_a": [ "HP:0025029" ], "is_obsolete": "", "replace_id": "" }, "HP:0025031": { "name": [ "abnormality of the digestive system", "abnormality of the digestive system" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0025032": { "name": [ "abnormality of digestive system physiology", "abnormality of digestive system physiology" ], "alt_id": [], "def": "A functional anomaly of the digestive system.", "synonym": [], "xref": [], "is_a": [ "HP:0025031" ], "is_obsolete": "", "replace_id": "" }, "HP:0025033": { "name": [ "abnormality of digestive system morphology", "abnormality of digestive system morphology" ], "alt_id": [], "def": "A structural anomaly of the digestive system.", "synonym": [], "xref": [], "is_a": [ "HP:0025031" ], "is_obsolete": "", "replace_id": "" }, "HP:0025034": { "name": [ "abnormal morphology of erythroid progenitor cell", "abnormal morphology of erythroid progenitor cell" ], "alt_id": [], "def": "Abnormal form of the progenitor cells committed to the erythroid lineage.", "synonym": [], "xref": [], "is_a": [ "HP:0012130" ], "is_obsolete": "", "replace_id": "" }, "HP:0025035": { "name": [ "abnormal proerythroblast morphology", "abnormal proerythroblast morphology" ], "alt_id": [], "def": "Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.", "synonym": [], "xref": [], "is_a": [ "HP:0012130" ], "is_obsolete": "", "replace_id": "" }, "HP:0025037": { "name": [ "hypothalamic gliosis", "hypothalamic gliosis" ], "alt_id": [], "def": "Focal proliferation of glial cells in the hypothalamus.", "synonym": [], "xref": [], "is_a": [ "HP:0002171" ], "is_obsolete": "", "replace_id": "" }, "HP:0025038": { "name": [ "intratesticular abscess", "intratesticular abscess" ], "alt_id": [], "def": "A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins.", "synonym": [ [ "testicular abscess", "testicular abscess" ] ], "xref": [], "is_a": [ "HP:0000035", "HP:0025615" ], "is_obsolete": "", "replace_id": "" }, "HP:0025039": { "name": [ "basal ganglia edema", "basal ganglion edema" ], "alt_id": [], "def": "Swelling within the basal ganglia due to the accumulation of fluid.", "synonym": [ [ "basal ganglia oedema", "basal ganglion oedema" ], [ "edema of the basal ganglia", "edema of the basal ganglion" ], [ "oedema of the basal ganglia", "oedema of the basal ganglion" ] ], "xref": [], "is_a": [ "HP:0002134" ], "is_obsolete": "", "replace_id": "" }, "HP:0025040": { "name": [ "thalamic edema", "thalamic edema" ], "alt_id": [], "def": "Swelling within the thalamus due to the accumulation of fluid.", "synonym": [ [ "edema of the thalamus", "edema of the thalamus" ], [ "oedema of the thalamus", "oedema of the thalamus" ], [ "thalamic oedema", "thalamic oedema" ] ], "xref": [], "is_a": [ "HP:0010663" ], "is_obsolete": "", "replace_id": "" }, "HP:0025041": { "name": [ "thalamic calcification", "thalamic calcification" ], "alt_id": [], "def": "Calcium deposition in the thalamus.", "synonym": [], "xref": [], "is_a": [ "HP:0010663" ], "is_obsolete": "", "replace_id": "" }, "HP:0025042": { "name": [ "abnormality of mesenteric lymph nodes", "abnormality of mesenteric lymph node" ], "alt_id": [], "def": "A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.", "synonym": [], "xref": [], "is_a": [ "HP:0002733" ], "is_obsolete": "", "replace_id": "" }, "HP:0025043": { "name": [ "enlarged mesenteric lymph node", "enlarge mesenteric lymph node" ], "alt_id": [], "def": "Increase in size of one or more mesenteric lymph nodes.", "synonym": [], "xref": [], "is_a": [ "HP:0025042" ], "is_obsolete": "", "replace_id": "" }, "HP:0025044": { "name": [ "lung abscess", "lung abscess" ], "alt_id": [], "def": "A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity.", "synonym": [], "xref": [], "is_a": [ "HP:0011947", "HP:0025615" ], "is_obsolete": "", "replace_id": "" }, "HP:0025045": { "name": [ "abnormal brain lactate level by mrs", "abnormal brain lactate level by mr" ], "alt_id": [], "def": "A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).", "synonym": [ [ "abnormal lactate level by magnetic resonance spectroscopy", "abnormal lactate level by magnetic resonance spectroscopy" ] ], "xref": [], "is_a": [ "HP:0012705" ], "is_obsolete": "", "replace_id": "" }, "HP:0025046": { "name": [ "reduced brain lactate level by mrs", "reduce brain lactate level by mr" ], "alt_id": [], "def": "A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).", "synonym": [ [ "reduced brain lactate level by magnetic resonance spectroscopy", "reduce brain lactate level by magnetic resonance spectroscopy" ] ], "xref": [], "is_a": [ "HP:0025045" ], "is_obsolete": "", "replace_id": "" }, "HP:0025047": { "name": [ "abnormal brain choline level by mrs", "abnormal brain choline level by mr" ], "alt_id": [], "def": "A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).", "synonym": [ [ "abnormal brain choline level by magnetic resonance spectroscopy", "abnormal brain choline level by magnetic resonance spectroscopy" ] ], "xref": [], "is_a": [ "HP:0012705" ], "is_obsolete": "", "replace_id": "" }, "HP:0025048": { "name": [ "reduced brain choline level by mrs", "reduce brain choline level by mr" ], "alt_id": [], "def": "An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).", "synonym": [ [ "reduced brain choline level by magnetic resonance spectroscopy", "reduce brain choline level by magnetic resonance spectroscopy" ] ], "xref": [], "is_a": [ "HP:0025047" ], "is_obsolete": "", "replace_id": "" }, "HP:0025049": { "name": [ "abnormal brain creatine level by mrs", "abnormal brain creatine level by mr" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal brain creatine level by magnetic resonance spectroscopy", "abnormal brain creatine level by magnetic resonance spectroscopy" ] ], "xref": [], "is_a": [ "HP:0012705" ], "is_obsolete": "", "replace_id": "" }, "HP:0025050": { "name": [ "elevated brain creatine level by mrs", "elevate brain creatine level by mr" ], "alt_id": [], "def": "An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).", "synonym": [ [ "elevated brain creatine level by magnetic resonance spectroscopy", "elevate brain creatine level by magnetic resonance spectroscopy" ] ], "xref": [], "is_a": [ "HP:0025049" ], "is_obsolete": "", "replace_id": "" }, "HP:0025051": { "name": [ "reduced brain creatine level by mrs", "reduce brain creatine level by mr" ], "alt_id": [], "def": "A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).", "synonym": [ [ "low brain creatine phosphate", "low brain creatine phosphate" ], [ "reduced brain creatine level by magnetic resonance spectroscopy", "reduce brain creatine level by magnetic resonance spectroscopy" ] ], "xref": [], "is_a": [ "HP:0025049" ], "is_obsolete": "", "replace_id": "" }, "HP:0025052": { "name": [ "abnormal brain n - acetyl aspartate level by mrs", "abnormal brain n - acetyl aspartate level by mr" ], "alt_id": [], "def": "A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).", "synonym": [ [ "abnormal brain n - acetyl aspartate level by magnetic resonance spectroscopy", "abnormal brain n - acetyl aspartate level by magnetic resonance spectroscopy" ] ], "xref": [], "is_a": [ "HP:0012705" ], "is_obsolete": "", "replace_id": "" }, "HP:0025053": { "name": [ "elevated brain n - acetyl aspartate level by mrs", "elevate brain n - acetyl aspartate level by mr" ], "alt_id": [], "def": "An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).", "synonym": [ [ "elevated brain n - acetyl aspartate level by magnetic resonance spectroscopy", "elevate brain n - acetyl aspartate level by magnetic resonance spectroscopy" ] ], "xref": [], "is_a": [ "HP:0025052" ], "is_obsolete": "", "replace_id": "" }, "HP:0025057": { "name": [ "abnormality of olfactory lobe morphology", "abnormality of olfactory lobe morphology" ], "alt_id": [], "def": "A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.", "synonym": [], "xref": [], "is_a": [ "HP:0100547" ], "is_obsolete": "", "replace_id": "" }, "HP:0025058": { "name": [ "hypothalamic atrophy", "hypothalamic atrophy" ], "alt_id": [], "def": "Partial or complete wasting (loss) of hypothalamus tissue that was once present.", "synonym": [ [ "atrophy of the hypothalamus", "atrophy of the hypothalamus" ] ], "xref": [], "is_a": [ "HP:0012286" ], "is_obsolete": "", "replace_id": "" }, "HP:0025059": { "name": [ "splenic abscess", "splenic abscess" ], "alt_id": [], "def": "A circumscribed area of pus or necrotic debris in the parenchyma of the spleen.", "synonym": [], "xref": [], "is_a": [ "HP:0025408" ], "is_obsolete": "", "replace_id": "" }, "HP:0025060": { "name": [ "multifocal splenic abscess", "multifocal splenic abscess" ], "alt_id": [], "def": "Multiple abscess lesions in the spleen.", "synonym": [ [ "multilocular splenic abscess", "multilocular splenic abscess" ] ], "xref": [], "is_a": [ "HP:0025059" ], "is_obsolete": "", "replace_id": "" }, "HP:0025061": { "name": [ "unifocal splenic abscess", "unifocal splenic abscess" ], "alt_id": [], "def": "Single (solitary) abscess in the spleen.", "synonym": [ [ "solitary splenic abscess", "solitary splenic abscess" ], [ "unilocular splenic abscess", "unilocular splenic abscess" ] ], "xref": [], "is_a": [ "HP:0025059" ], "is_obsolete": "", "replace_id": "" }, "HP:0025062": { "name": [ "geophagia", "geophagia" ], "alt_id": [], "def": "The practice of eating earth or soil-like substrates such as clay or chalk.", "synonym": [ [ "geophagy", "geophagy" ] ], "xref": [], "is_a": [ "HP:0011856" ], "is_obsolete": "", "replace_id": "" }, "HP:0025063": { "name": [ "scaphoid abdomen", "scaphoid abdomen" ], "alt_id": [], "def": "The anterior abdominal wall is sunken and presents a concave rather than a convex contour.", "synonym": [], "xref": [], "is_a": [ "HP:0011458" ], "is_obsolete": "", "replace_id": "" }, "HP:0025064": { "name": [ "thalamic hemorrhage", "thalamic hemorrhage" ], "alt_id": [], "def": "Bleeding in the thalamus.", "synonym": [ [ "thalamic haemorrhage", "thalamic haemorrhage" ] ], "xref": [], "is_a": [ "HP:0010663" ], "is_obsolete": "", "replace_id": "" }, "HP:0025065": { "name": [ "abnormal mean corpuscular volume", "abnormal mean corpuscular volume" ], "alt_id": [], "def": "A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.", "synonym": [ [ "abnormal erythrocyte volume", "abnormal erythrocyte volume" ], [ "abnormal mcv", "abnormal mcv" ] ], "xref": [], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0025066": { "name": [ "decreased mean corpuscular volume", "decrease mean corpuscular volume" ], "alt_id": [], "def": "A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).", "synonym": [ [ "decreased mcv", "decrease mcv" ], [ "microcytosis", "microcytosis" ], [ "reduced erythrocyte volume", "reduce erythrocyte volume" ] ], "xref": [], "is_a": [ "HP:0025065" ], "is_obsolete": "", "replace_id": "" }, "HP:0025068": { "name": [ "incomitant strabismus", "incomitant strabismus" ], "alt_id": [], "def": "Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort.", "synonym": [], "xref": [], "is_a": [ "HP:0000486" ], "is_obsolete": "", "replace_id": "" }, "HP:0025069": { "name": [ "concomitant strabismus", "concomitant strabismus" ], "alt_id": [], "def": "Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing.", "synonym": [ [ "comitant strabismus", "comitant strabismus" ] ], "xref": [], "is_a": [ "HP:0000486" ], "is_obsolete": "", "replace_id": "" }, "HP:0025070": { "name": [ "abnormal u wave", "abnormal u wave" ], "alt_id": [], "def": "An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.", "synonym": [], "xref": [], "is_a": [ "HP:0003115" ], "is_obsolete": "", "replace_id": "" }, "HP:0025071": { "name": [ "u wave inversion", "u wave inversion" ], "alt_id": [], "def": "Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves.", "synonym": [], "xref": [], "is_a": [ "HP:0025070" ], "is_obsolete": "", "replace_id": "" }, "HP:0025072": { "name": [ "prominent u wave", "prominent u wave" ], "alt_id": [], "def": "Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave.", "synonym": [ [ "increased u wave amplitude", "increase u wave amplitude" ] ], "xref": [], "is_a": [ "HP:0025070" ], "is_obsolete": "", "replace_id": "" }, "HP:0025073": { "name": [ "exercise - induced u wave inversion", "exercise - induced u wave inversion" ], "alt_id": [], "def": "U wave inversion that is induced by exercise stress testing.", "synonym": [], "xref": [], "is_a": [ "HP:0025071" ], "is_obsolete": "", "replace_id": "" }, "HP:0025074": { "name": [ "abnormal qrs complex", "abnormal qrs complex" ], "alt_id": [], "def": "An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.", "synonym": [], "xref": [], "is_a": [ "HP:0003115" ], "is_obsolete": "", "replace_id": "" }, "HP:0025075": { "name": [ "increased qrs voltage", "increase qrs voltage" ], "alt_id": [], "def": "Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm).", "synonym": [], "xref": [], "is_a": [ "HP:0025076" ], "is_obsolete": "", "replace_id": "" }, "HP:0025076": { "name": [ "abnormal qrs voltage", "abnormal qrs voltage" ], "alt_id": [], "def": "Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).", "synonym": [], "xref": [], "is_a": [ "HP:0025074" ], "is_obsolete": "", "replace_id": "" }, "HP:0025077": { "name": [ "decreased qrs voltage", "decrease qrs voltage" ], "alt_id": [], "def": "Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm.", "synonym": [], "xref": [], "is_a": [ "HP:0025076" ], "is_obsolete": "", "replace_id": "" }, "HP:0025078": { "name": [ "electrical alternans", "electrical alternans" ], "alt_id": [], "def": "The QRS complexes of the electrocardiogram alternate in height.", "synonym": [], "xref": [], "is_a": [ "HP:0025076" ], "is_obsolete": "", "replace_id": "" }, "HP:0025079": { "name": [ "pancreatic abscess", "pancreatic abscess" ], "alt_id": [], "def": "A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas.", "synonym": [ [ "pancreas abscess", "pancreas abscess" ] ], "xref": [], "is_a": [ "HP:0012090", "HP:0025615" ], "is_obsolete": "", "replace_id": "" }, "HP:0025080": { "name": [ "orthokeratotic hyperkeratosis", "orthokeratotic hyperkeratosis" ], "alt_id": [], "def": "A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.", "synonym": [], "xref": [], "is_a": [ "HP:0000962" ], "is_obsolete": "", "replace_id": "" }, "HP:0025081": { "name": [ "darier 's sign", "darier 's sign" ], "alt_id": [], "def": "A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP.", "synonym": [], "xref": [], "is_a": [ "HP:0001025" ], "is_obsolete": "", "replace_id": "" }, "HP:0025082": { "name": [ "abnormal cutaneous elastic fiber morphology", "abnormal cutaneous elastic fiber morphology" ], "alt_id": [], "def": "Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils.", "synonym": [ [ "abnormal cutaneous elastic fibre morphology", "abnormal cutaneous elastic fibre morphology" ] ], "xref": [], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0025083": { "name": [ "elevated dermal desmosine content", "elevate dermal desmosine content" ], "alt_id": [], "def": "An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin.", "synonym": [], "xref": [], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0025084": { "name": [ "folliculitis", "folliculitis" ], "alt_id": [], "def": "Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule.", "synonym": [ [ "follicular pustule", "follicular pustule" ] ], "xref": [], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0025085": { "name": [ "bloody diarrhea", "bloody diarrhea" ], "alt_id": [], "def": "Passage of many stools containing blood.", "synonym": [ [ "blood in stool", "blood in stool" ], [ "bloody bowel movement", "bloody bowel movement" ], [ "bloody diarrhea", "bloody diarrhea" ], [ "bloody diarrhoea", "bloody diarrhoea" ], [ "bloody stool", "bloody stool" ] ], "xref": [], "is_a": [ "HP:0002014" ], "is_obsolete": "", "replace_id": "" }, "HP:0025086": { "name": [ "bloody mucoid diarrhea", "bloody mucoid diarrhea" ], "alt_id": [], "def": "Passage of many stools containing blood and mucus.", "synonym": [ [ "bloody mucoid diarrhoea", "bloody mucoid diarrhoea" ] ], "xref": [], "is_a": [ "HP:0025085" ], "is_obsolete": "", "replace_id": "" }, "HP:0025087": { "name": [ "delayed recoil upon stretching of skin", "delay recoil upon stretch of skin" ], "alt_id": [], "def": "Area of skin requiring an increased amount of time to return to its original shape after being stretched.", "synonym": [], "xref": [], "is_a": [ "HP:0008067" ], "is_obsolete": "", "replace_id": "" }, "HP:0025088": { "name": [ "onychomadesis", "onychomadesis" ], "alt_id": [], "def": "Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth.", "synonym": [], "xref": [], "is_a": [ "HP:0001806" ], "is_obsolete": "", "replace_id": "" }, "HP:0025089": { "name": [ "feculent vomiting", "feculent vomit" ], "alt_id": [], "def": "Vomiting of material that is of fecal origin.", "synonym": [ [ "faecal vomiting", "faecal vomiting" ], [ "fecal vomiting", "fecal vomiting" ], [ "stercoraceous vomiting", "stercoraceous vomit" ], [ "vomiting faecal matter", "vomit faecal matter" ], [ "vomiting fecal matter", "vomit fecal matter" ] ], "xref": [], "is_a": [ "HP:0002013" ], "is_obsolete": "", "replace_id": "" }, "HP:0025090": { "name": [ "abnormal large intestinal mucosa morphology", "abnormal large intestinal mucosa morphology" ], "alt_id": [], "def": "A structural anomaly of the mucous lining of the large intestine.", "synonym": [], "xref": [], "is_a": [ "HP:0002250" ], "is_obsolete": "", "replace_id": "" }, "HP:0025092": { "name": [ "epidermal acanthosis", "epidermal acanthosis" ], "alt_id": [], "def": "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).", "synonym": [ [ "acanthosis", "acanthosis" ], [ "acanthotic epidermis", "acanthotic epidermis" ], [ "thickening of upper layer of skin", "thickening of upper layer of skin" ] ], "xref": [], "is_a": [ "HP:0011124" ], "is_obsolete": "", "replace_id": "" }, "HP:0025093": { "name": [ "peripapillary exudate", "peripapillary exudate" ], "alt_id": [], "def": "A retinal exudate in the area surrounding the optic nerve head.", "synonym": [ [ "peripapillary exudation", "peripapillary exudation" ] ], "xref": [], "is_a": [ "HP:0001147" ], "is_obsolete": "", "replace_id": "" }, "HP:0025094": { "name": [ "disciform macular scar", "disciform macular scar" ], "alt_id": [], "def": "A subretinal scar with a disc-like shape in the region of the macula.", "synonym": [], "xref": [], "is_a": [ "HP:0200056" ], "is_obsolete": "", "replace_id": "" }, "HP:0025095": { "name": [ "sneeze", "sneeze" ], "alt_id": [], "def": "A sudden violent, spasmodic, audible expiration of breath through the nose and mouth.", "synonym": [], "xref": [], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0025096": { "name": [ "paroxysmal sneezing", "paroxysmal sneezing" ], "alt_id": [], "def": "Unprovoked explosive pathological sneezing.", "synonym": [], "xref": [], "is_a": [ "HP:0025095" ], "is_obsolete": "", "replace_id": "" }, "HP:0025097": { "name": [ "eyelid myoclonus", "eyelid myoclonus" ], "alt_id": [], "def": "Marked, involuntary jerking of the eyelids.", "synonym": [ [ "blepharoclonus", "blepharoclonus" ], [ "eyelid myoclonia", "eyelid myoclonia" ] ], "xref": [], "is_a": [ "HP:0001336" ], "is_obsolete": "", "replace_id": "" }, "HP:0025098": { "name": [ "dysgenesis of the hypothalamus", "dysgenesis of the hypothalamus" ], "alt_id": [], "def": "Structural abnormality of the hypothalamus related to defective development.", "synonym": [ [ "hypothalamic dysgenesis", "hypothalamic dysgenesis" ] ], "xref": [], "is_a": [ "HP:0012286" ], "is_obsolete": "", "replace_id": "" }, "HP:0025099": { "name": [ "dysgenesis of the thalamus", "dysgenesis of the thalamus" ], "alt_id": [], "def": "Structural abnormality of the thalamus related to defective development.", "synonym": [ [ "thalamic dysgenesis", "thalamic dysgenesis" ] ], "xref": [], "is_a": [ "HP:0010663" ], "is_obsolete": "", "replace_id": "" }, "HP:0025100": { "name": [ "abnormal hippocampus morphology", "abnormal hippocampus morphology" ], "alt_id": [], "def": "Any structural anomaly of the hippocampus,", "synonym": [ [ "abnormal morphology of the hippocampus", "abnormal morphology of the hippocampus" ], [ "abnormality of hippocampus morphology", "abnormality of hippocampus morphology" ] ], "xref": [], "is_a": [ "HP:0007343" ], "is_obsolete": "", "replace_id": "" }, "HP:0025101": { "name": [ "dysgenesis of the hippocampus", "dysgenesis of the hippocampus" ], "alt_id": [], "def": "Structural abnormality of the hippocampus related to defective development.", "synonym": [ [ "hippocampal dysgenesis", "hippocampal dysgenesis" ] ], "xref": [], "is_a": [ "HP:0025100" ], "is_obsolete": "", "replace_id": "" }, "HP:0025102": { "name": [ "dysgenesis of the basal ganglia", "dysgenesis of the basal ganglion" ], "alt_id": [], "def": "Structural abnormality of the basal ganglia related to defective development.", "synonym": [ [ "basal ganglia dysgenesis", "basal ganglion dysgenesis" ] ], "xref": [], "is_a": [ "HP:0002134" ], "is_obsolete": "", "replace_id": "" }, "HP:0025103": { "name": [ "umbilicated nodule", "umbilicated nodule" ], "alt_id": [], "def": "A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated).", "synonym": [], "xref": [], "is_a": [ "HP:0200036" ], "is_obsolete": "", "replace_id": "" }, "HP:0025104": { "name": [ "capillary malformation", "capillary malformation" ], "alt_id": [], "def": "A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).", "synonym": [], "xref": [], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0025105": { "name": [ "nevus anemicus", "nevus anemicus" ], "alt_id": [], "def": "A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots.", "synonym": [ [ "naevus anaemicus", "naevus anaemicus" ] ], "xref": [], "is_a": [ "HP:0025104" ], "is_obsolete": "", "replace_id": "" }, "HP:0025106": { "name": [ "nevus roseus", "nevus roseus" ], "alt_id": [], "def": "A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life.", "synonym": [], "xref": [], "is_a": [ "HP:0025104" ], "is_obsolete": "", "replace_id": "" }, "HP:0025107": { "name": [ "cutis marmorata telangiectatica congenita", "cutis marmorata telangiectatica congenita" ], "alt_id": [], "def": "A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible.", "synonym": [], "xref": [], "is_a": [ "HP:0025104" ], "is_obsolete": "", "replace_id": "" }, "HP:0025108": { "name": [ "angioma serpentinum", "angioma serpentinum" ], "alt_id": [], "def": "Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis.", "synonym": [], "xref": [], "is_a": [ "HP:0025104" ], "is_obsolete": "", "replace_id": "" }, "HP:0025109": { "name": [ "reduced red cell pyruvate kinase level", "reduce red cell pyruvate kinase level" ], "alt_id": [], "def": "Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.", "synonym": [ [ "reduced erythrocyte pyruvate kinase activity", "reduce erythrocyte pyruvate kinase activity" ] ], "xref": [], "is_a": [ "HP:0030272" ], "is_obsolete": "", "replace_id": "" }, "HP:0025110": { "name": [ "placoid macular lesion", "placoid macular lesion" ], "alt_id": [], "def": "Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula.", "synonym": [], "xref": [], "is_a": [ "HP:0030500" ], "is_obsolete": "", "replace_id": "" }, "HP:0025112": { "name": [ "sound sensitivity", "sound sensitivity" ], "alt_id": [], "def": "Decreased tolerance to sound.", "synonym": [ [ "noise sensitivity", "noise sensitivity" ] ], "xref": [], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0025113": { "name": [ "misophonia", "misophonia" ], "alt_id": [], "def": "An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound.", "synonym": [], "xref": [], "is_a": [ "HP:0025112" ], "is_obsolete": "", "replace_id": "" }, "HP:0025114": { "name": [ "hypergranulosis", "hypergranulosis" ], "alt_id": [], "def": "Hypergranulosis is an increased thickness of the stratum granulosum.", "synonym": [], "xref": [], "is_a": [ "HP:0011368" ], "is_obsolete": "", "replace_id": "" }, "HP:0025115": { "name": [ "civatte bodies", "civatte body" ], "alt_id": [], "def": "Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant", "synonym": [ [ "colloid bodies", "colloid body" ], [ "colloid bodies of civatte", "colloid body of civatte" ], [ "cytoid bodies", "cytoid body" ], [ "hyaline bodies", "hyaline body" ] ], "xref": [], "is_a": [ "HP:0011124" ], "is_obsolete": "", "replace_id": "" }, "HP:0025116": { "name": [ "fetal distress", "fetal distress" ], "alt_id": [], "def": "An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.", "synonym": [ [ "foetal distress", "foetal distress" ] ], "xref": [], "is_a": [ "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0025117": { "name": [ "rete ridge flattening", "rete ridge flattening" ], "alt_id": [], "def": "Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance.", "synonym": [ [ "flattened rete pegs", "flatten rete peg" ], [ "flattened rete ridges", "flatten rete ridge" ] ], "xref": [], "is_a": [ "HP:0011124" ], "is_obsolete": "", "replace_id": "" }, "HP:0025118": { "name": [ "lip discoloration", "lip discoloration" ], "alt_id": [], "def": "Lightening or darkening of the lips from their usual coloring.", "synonym": [], "xref": [], "is_a": [ "HP:0032453" ], "is_obsolete": "", "replace_id": "" }, "HP:0025119": { "name": [ "violet lip discoloration", "violet lip discoloration" ], "alt_id": [], "def": "An alteration of the color of the lip to take on a violet color. This term does not include cyanosis.", "synonym": [], "xref": [], "is_a": [ "HP:0025118" ], "is_obsolete": "", "replace_id": "" }, "HP:0025121": { "name": [ "obsolete simple partial occipital seizures", "obsolete simple partial occipital seizure" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0011165" }, "HP:0025122": { "name": [ "sawtooth acanthosis", "sawtooth acanthosis" ], "alt_id": [], "def": "A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis.", "synonym": [ [ "sawtoothed acanthosis", "sawtoothed acanthosis" ] ], "xref": [], "is_a": [ "HP:0025092" ], "is_obsolete": "", "replace_id": "" }, "HP:0025123": { "name": [ "white streaks / specks on enamel .", "white streak / speck on enamel ." ], "alt_id": [], "def": "Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks.", "synonym": [], "xref": [], "is_a": [ "HP:0011073" ], "is_obsolete": "", "replace_id": "" }, "HP:0025124": { "name": [ "fragile teeth", "fragile teeth" ], "alt_id": [], "def": "A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.", "synonym": [ [ "enamel with tendency to chip", "enamel with tendency to chip" ], [ "spontaneous tooth fracture", "spontaneous tooth fracture" ] ], "xref": [], "is_a": [ "HP:0000164" ], "is_obsolete": "", "replace_id": "" }, "HP:0025125": { "name": [ "white lesion of the oral mucosa", "white lesion of the oral mucosa" ], "alt_id": [], "def": "White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white.", "synonym": [], "xref": [], "is_a": [ "HP:0011830" ], "is_obsolete": "", "replace_id": "" }, "HP:0025126": { "name": [ "oral hairy leukoplakia", "oral hairy leukoplakia" ], "alt_id": [], "def": "A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance.", "synonym": [], "xref": [], "is_a": [ "HP:0025125" ], "is_obsolete": "", "replace_id": "" }, "HP:0025127": { "name": [ "actinic keratosis", "actinic keratosis" ], "alt_id": [], "def": "A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color.", "synonym": [ [ "solar keratosis", "solar keratosis" ] ], "xref": [], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0025128": { "name": [ "reduced intraabdominal adipose tissue", "reduce intraabdominal adipose tissue" ], "alt_id": [], "def": "An abnormally reduced amount of adipose tissue in the abdominal cavity.", "synonym": [], "xref": [], "is_a": [ "HP:0040063" ], "is_obsolete": "", "replace_id": "" }, "HP:0025129": { "name": [ "abnormal small intestinal mucosa morphology", "abnormal small intestinal mucosa morphology" ], "alt_id": [], "def": "A structural anomaly of the mucous lining of the small intestine.", "synonym": [], "xref": [], "is_a": [ "HP:0002244" ], "is_obsolete": "", "replace_id": "" }, "HP:0025130": { "name": [ "decreased small intestinal mucosa lactase level", "decrease small intestinal mucosa lactase level" ], "alt_id": [], "def": "Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.", "synonym": [ [ "lactase deficiency", "lactase deficiency" ] ], "xref": [], "is_a": [ "HP:0012379", "HP:0025129" ], "is_obsolete": "", "replace_id": "" }, "HP:0025131": { "name": [ "finger swelling", "finger swell" ], "alt_id": [], "def": "Enlargement of the soft tissues of one or more fingers.", "synonym": [ [ "swelling of fingers", "swell of finger" ], [ "swollen finger", "swell finger" ], [ "swollen fingers", "swollen finger" ] ], "xref": [], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0025132": { "name": [ "abnormal circulating estrogen level", "abnormal circulate estrogen level" ], "alt_id": [], "def": "A deviation from normal concentration of the hormone estrogen in the blood circulation.", "synonym": [ [ "abnormal circulating oestrogen level", "abnormal circulate oestrogen level" ], [ "abnormal estrogen level", "abnormal estrogen level" ], [ "abnormal oestrogen level", "abnormal oestrogen level" ] ], "xref": [], "is_a": [ "HP:0033799" ], "is_obsolete": "", "replace_id": "" }, "HP:0025133": { "name": [ "abnormal serum estradiol", "abnormal serum estradiol" ], "alt_id": [], "def": "A deviation from normal concentrations of estradiol in the circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0025132" ], "is_obsolete": "", "replace_id": "" }, "HP:0025134": { "name": [ "increased serum estradiol", "increase serum estradiol" ], "alt_id": [], "def": "An elevation above normal limits of the concentration of estradiol in the circulation.", "synonym": [ [ "increased estradiol level", "increase estradiol level" ], [ "increased serum oestradiol", "increase serum oestradiol" ] ], "xref": [], "is_a": [ "HP:0025133" ], "is_obsolete": "", "replace_id": "" }, "HP:0025135": { "name": [ "abnormal serum estriol", "abnormal serum estriol" ], "alt_id": [], "def": "A deviation from normal concentration of estriol in the circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0025132" ], "is_obsolete": "", "replace_id": "" }, "HP:0025136": { "name": [ "increased serum estriol", "increase serum estriol" ], "alt_id": [], "def": "An elevation above normal limits of estriol concentration in the circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0025135" ], "is_obsolete": "", "replace_id": "" }, "HP:0025137": { "name": [ "decreased serum estriol", "decrease serum estriol" ], "alt_id": [], "def": "A reduction below normal limits of estriol in the circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0025135" ], "is_obsolete": "", "replace_id": "" }, "HP:0025138": { "name": [ "abnormal serum estrone", "abnormal serum estrone" ], "alt_id": [], "def": "A deviation from the normal concentration of circulating estrone.", "synonym": [], "xref": [], "is_a": [ "HP:0025132" ], "is_obsolete": "", "replace_id": "" }, "HP:0025139": { "name": [ "increased serum estrone", "increase serum estrone" ], "alt_id": [], "def": "An elevation above normal limits of the concentration of estrone in the circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0025138" ], "is_obsolete": "", "replace_id": "" }, "HP:0025140": { "name": [ "decreased serum estrone", "decrease serum estrone" ], "alt_id": [], "def": "A reduction below normal limits of the concentration of estrone in the circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0025138" ], "is_obsolete": "", "replace_id": "" }, "HP:0025141": { "name": [ "gingival calcification", "gingival calcification" ], "alt_id": [], "def": "Ectopic deposition of calcium salts found in the gingiva.", "synonym": [ [ "gingival calcifications", "gingival calcification" ] ], "xref": [], "is_a": [ "HP:0000168", "HP:0010766" ], "is_obsolete": "", "replace_id": "" }, "HP:0025142": { "name": [ "constitutional symptom", "constitutional symptom" ], "alt_id": [], "def": "A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.", "synonym": [], "xref": [], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0025143": { "name": [ "chills", "chill" ], "alt_id": [], "def": "A sudden sensation of feeling cold.", "synonym": [ [ "chills", "chill" ] ], "xref": [], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0025144": { "name": [ "shivering", "shiver" ], "alt_id": [], "def": "Involuntary contraction or twitching of the muscles.", "synonym": [ [ "shivering", "shiver" ], [ "shuddering", "shudder" ] ], "xref": [], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0025145": { "name": [ "rigors", "rigor" ], "alt_id": [], "def": "Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever.", "synonym": [ [ "rigours", "rigour" ] ], "xref": [], "is_a": [ "HP:0025143", "HP:0025144" ], "is_obsolete": "", "replace_id": "" }, "HP:0025146": { "name": [ "foveal degeneration", "foveal degeneration" ], "alt_id": [], "def": "Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina.", "synonym": [], "xref": [], "is_a": [ "HP:0000493", "HP:0000608" ], "is_obsolete": "", "replace_id": "" }, "HP:0025147": { "name": [ "beaten bronze macular sheen", "beat bronze macular sheen" ], "alt_id": [], "def": "A shiny appearance of the macula, which is often called a beaten bronze appearance.", "synonym": [ [ "beaten metal macular appearance", "beat metal macular appearance" ], [ "beaten - bronze macular appearance", "beaten - bronze macular appearance" ], [ "beaten - bronze macular sheen", "beaten - bronze macular sheen" ] ], "xref": [], "is_a": [ "HP:0008002" ], "is_obsolete": "", "replace_id": "" }, "HP:0025148": { "name": [ "dark choroid", "dark choroid" ], "alt_id": [], "def": "A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid).", "synonym": [], "xref": [], "is_a": [ "HP:0000610" ], "is_obsolete": "", "replace_id": "" }, "HP:0025149": { "name": [ "atrophic muscularis propria", "atrophic muscularis propria" ], "alt_id": [], "def": "Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis.", "synonym": [ [ "autonomic visceral myopathy", "autonomic visceral myopathy" ], [ "degenerative enteric myopathy", "degenerative enteric myopathy" ] ], "xref": [], "is_a": [ "HP:0030935" ], "is_obsolete": "", "replace_id": "" }, "HP:0025150": { "name": [ "hypoganglionosis", "hypoganglionosis" ], "alt_id": [], "def": "Sparse and small myenteric ganglia", "synonym": [], "xref": [], "is_a": [ "HP:0004362" ], "is_obsolete": "", "replace_id": "" }, "HP:0025151": { "name": [ "ganglioneuromatosis", "ganglioneuromatosis" ], "alt_id": [], "def": "Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers.", "synonym": [], "xref": [], "is_a": [ "HP:0004362" ], "is_obsolete": "", "replace_id": "" }, "HP:0025152": { "name": [ "poor visual behavior for age", "poor visual behavior for age" ], "alt_id": [], "def": "Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones.", "synonym": [ [ "abnormal visual behavior for age", "abnormal visual behavior for age" ], [ "abnormal visual behaviour for age", "abnormal visual behaviour for age" ], [ "poor visual behaviour for age", "poor visual behaviour for age" ] ], "xref": [], "is_a": [ "HP:0000504" ], "is_obsolete": "", "replace_id": "" }, "HP:0025153": { "name": [ "transient", "transient" ], "alt_id": [], "def": "Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration.", "synonym": [], "xref": [], "is_a": [ "HP:0011008" ], "is_obsolete": "", "replace_id": "" }, "HP:0025154": { "name": [ "portosystemic collateral veins", "portosystemic collateral vein" ], "alt_id": [], "def": "Presence of biliary veins that serve as a collateral channel to the systemic circulation", "synonym": [ [ "collateral biliary circulation", "collateral biliary circulation" ], [ "collateral biliary veins", "collateral biliary vein" ] ], "xref": [], "is_a": [ "HP:0012440" ], "is_obsolete": "", "replace_id": "" }, "HP:0025155": { "name": [ "abnormality of hepatobiliary system physiology", "abnormality of hepatobiliary system physiology" ], "alt_id": [], "def": "A functional anomaly of the hepatobiliary system", "synonym": [], "xref": [], "is_a": [ "HP:0025032" ], "is_obsolete": "", "replace_id": "" }, "HP:0025156": { "name": [ "dependency on intravenous nutrition", "dependency on intravenous nutrition" ], "alt_id": [], "def": "Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status.", "synonym": [ [ "dependency on iv nutrition", "dependency on iv nutrition" ] ], "xref": [], "is_a": [ "HP:0025032" ], "is_obsolete": "", "replace_id": "" }, "HP:0025157": { "name": [ "increased urinary sedoheptulose", "increase urinary sedoheptulose" ], "alt_id": [], "def": "An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.", "synonym": [], "xref": [], "is_a": [ "HP:0031979" ], "is_obsolete": "", "replace_id": "" }, "HP:0025158": { "name": [ "hyperautofluorescent retinal lesion", "hyperautofluorescent retinal lesion" ], "alt_id": [], "def": "Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.", "synonym": [], "xref": [], "is_a": [ "HP:0030602" ], "is_obsolete": "", "replace_id": "" }, "HP:0025159": { "name": [ "hypoautofluorescent retinal lesion", "hypoautofluorescent retinal lesion" ], "alt_id": [], "def": "Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.", "synonym": [ [ "hypo - autofluorescent retinal lesion", "hypo - autofluorescent retinal lesion" ] ], "xref": [], "is_a": [ "HP:0030602" ], "is_obsolete": "", "replace_id": "" }, "HP:0025160": { "name": [ "abnormal temper tantrums", "abnormal temper tantrum" ], "alt_id": [], "def": "A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual.", "synonym": [], "xref": [], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0025161": { "name": [ "frequent temper tantrums", "frequent temper tantrum" ], "alt_id": [], "def": "Temper tantrums that occur more frequently than usual.", "synonym": [], "xref": [], "is_a": [ "HP:0025160" ], "is_obsolete": "", "replace_id": "" }, "HP:0025162": { "name": [ "severe temper tantrums", "severe temper tantrum" ], "alt_id": [], "def": "Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes.", "synonym": [], "xref": [], "is_a": [ "HP:0025160" ], "is_obsolete": "", "replace_id": "" }, "HP:0025163": { "name": [ "abnormality of optic chiasm morphology", "abnormality of optic chiasm morphology" ], "alt_id": [], "def": "A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves.", "synonym": [], "xref": [], "is_a": [ "HP:0000587" ], "is_obsolete": "", "replace_id": "" }, "HP:0025164": { "name": [ "increased number of elastic fibers in the dermis", "increased number of elastic fiber in the dermis" ], "alt_id": [], "def": "An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods.", "synonym": [ [ "increased number of elastic fibres in the dermis", "increased number of elastic fibre in the dermis" ] ], "xref": [], "is_a": [ "HP:0025082" ], "is_obsolete": "", "replace_id": "" }, "HP:0025165": { "name": [ "clumping of elastic fibers in the dermis", "clumping of elastic fiber in the dermis" ], "alt_id": [], "def": "Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis).", "synonym": [ [ "clumping of elastic fibres in the dermis", "clumping of elastic fibre in the dermis" ] ], "xref": [], "is_a": [ "HP:0025082" ], "is_obsolete": "", "replace_id": "" }, "HP:0025166": { "name": [ "thickened elastic fibers in the dermis", "thicken elastic fiber in the dermis" ], "alt_id": [], "def": "An increase of the diameter of elastic fibers in the dermis.", "synonym": [ [ "thickened elastic fibres in the dermis", "thicken elastic fibre in the dermis" ] ], "xref": [], "is_a": [ "HP:0025082" ], "is_obsolete": "", "replace_id": "" }, "HP:0025167": { "name": [ "fragmented elastic fibers in the dermis", "fragment elastic fiber in the dermis" ], "alt_id": [], "def": "Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.", "synonym": [ [ "fragmented elastic fibres in the dermis", "fragment elastic fibre in the dermis" ] ], "xref": [], "is_a": [ "HP:0025082" ], "is_obsolete": "", "replace_id": "" }, "HP:0025168": { "name": [ "left ventricular diastolic dysfunction", "leave ventricular diastolic dysfunction" ], "alt_id": [], "def": "Abnormal function of the left ventricule during left ventricular relaxation and filling.", "synonym": [], "xref": [], "is_a": [ "HP:0005162" ], "is_obsolete": "", "replace_id": "" }, "HP:0025169": { "name": [ "left ventricular systolic dysfunction", "leave ventricular systolic dysfunction" ], "alt_id": [], "def": "Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.", "synonym": [], "xref": [], "is_a": [ "HP:0005162" ], "is_obsolete": "", "replace_id": "" }, "HP:0025170": { "name": [ "neuronal / glioneuronal neoplasm of the central nervous system", "neuronal / glioneuronal neoplasm of the central nervous system" ], "alt_id": [], "def": "A central nervous system neoplasm with neuronal and, less consistently, glial differentiation.", "synonym": [ [ "glioneuronal tumor", "glioneuronal tumor" ], [ "glioneuronal tumour", "glioneuronal tumour" ], [ "neuronal and mixed neuronal - glial tumor", "neuronal and mixed neuronal - glial tumor" ], [ "neuronal and mixed neuronal - glial tumour", "neuronal and mixed neuronal - glial tumour" ], [ "neuronal / glioneuronal neoplasm of the cns", "neuronal / glioneuronal neoplasm of the cns" ] ], "xref": [], "is_a": [ "HP:0030063", "HP:0100006" ], "is_obsolete": "", "replace_id": "" }, "HP:0025171": { "name": [ "rosette - forming glioneuronal tumor", "rosette - form glioneuronal tumor" ], "alt_id": [], "def": "A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy.", "synonym": [ [ "rosette - forming glioneuronal neoplasm", "rosette - form glioneuronal neoplasm" ], [ "rosette - forming glioneuronal tumor of the fourth ventricle", "rosette - form glioneuronal tumor of the fourth ventricle" ], [ "rosette - forming glioneuronal tumour", "rosette - form glioneuronal tumour" ], [ "rosette - forming glioneuronal tumour of the fourth ventricle", "rosette - form glioneuronal tumour of the fourth ventricle" ] ], "xref": [], "is_a": [ "HP:0025170" ], "is_obsolete": "", "replace_id": "" }, "HP:0025172": { "name": [ "smooth septal thickening on pulmonary hrct", "smooth septal thicken on pulmonary hrct" ], "alt_id": [], "def": "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa.", "synonym": [], "xref": [], "is_a": [ "HP:0030879" ], "is_obsolete": "", "replace_id": "" }, "HP:0025173": { "name": [ "nodular septal thickening on pulmonary hrct", "nodular septal thicken on pulmonary hrct" ], "alt_id": [], "def": "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa.", "synonym": [], "xref": [], "is_a": [ "HP:0030879" ], "is_obsolete": "", "replace_id": "" }, "HP:0025174": { "name": [ "irregular septal thickening on pulmonary hrct", "irregular septal thicken on pulmonary hrct" ], "alt_id": [], "def": "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture.", "synonym": [], "xref": [], "is_a": [ "HP:0030879" ], "is_obsolete": "", "replace_id": "" }, "HP:0025175": { "name": [ "honeycomb lung", "honeycomb lung" ], "alt_id": [], "def": "Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care.", "synonym": [ [ "honeycomb cysts", "honeycomb cyst" ], [ "honeycombing", "honeycomb" ] ], "xref": [], "is_a": [ "HP:0005948", "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0025176": { "name": [ "intralobular interstitial thickening", "intralobular interstitial thickening" ], "alt_id": [], "def": "A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance.", "synonym": [], "xref": [], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0025177": { "name": [ "peribronchovascular interstitial thickening", "peribronchovascular interstitial thickening" ], "alt_id": [], "def": "Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography.", "synonym": [], "xref": [], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0025178": { "name": [ "subpleural interstitial thickening", "subpleural interstitial thickening" ], "alt_id": [], "def": "Increase in thickness of the subpleural interstitium.", "synonym": [ [ "subpleural scarring", "subpleural scarring" ] ], "xref": [], "is_a": [ "HP:0031630" ], "is_obsolete": "", "replace_id": "" }, "HP:0025179": { "name": [ "ground - glass opacification", "ground - glass opacification" ], "alt_id": [], "def": "On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which\\nmargins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.", "synonym": [ [ "ground glass opacities", "ground glass opacity" ], [ "ground - glass opacification on pulmonary hrct", "ground - glass opacification on pulmonary hrct" ] ], "xref": [], "is_a": [ "HP:0031457" ], "is_obsolete": "", "replace_id": "" }, "HP:0025180": { "name": [ "centrilobular ground - glass opacification on pulmonary hrct", "centrilobular ground - glass opacification on pulmonary hrct" ], "alt_id": [], "def": "A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules.", "synonym": [ [ "centrilobular groundglass opacification", "centrilobular groundglass opacification" ], [ "centrilobular groundglass opacity", "centrilobular groundglass opacity" ] ], "xref": [], "is_a": [ "HP:0025179" ], "is_obsolete": "", "replace_id": "" }, "HP:0025181": { "name": [ "abdominal aseptic abscess", "abdominal aseptic abscess" ], "alt_id": [], "def": "An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently.", "synonym": [], "xref": [], "is_a": [ "HP:0001438" ], "is_obsolete": "", "replace_id": "" }, "HP:0025182": { "name": [ "localized area of pendulous skin", "localized area of pendulous skin" ], "alt_id": [], "def": "A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region.", "synonym": [ [ "localised area of pendulous skin", "localised area of pendulous skin" ] ], "xref": [], "is_a": [ "HP:0008067" ], "is_obsolete": "", "replace_id": "" }, "HP:0025186": { "name": [ "marcus gunn jaw winking synkinesis", "marcus gunn jaw wink synkinesis" ], "alt_id": [], "def": "Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing.", "synonym": [ [ "marcus gunn jaw - winking syndrome", "marcus gunn jaw - winking syndrome" ], [ "pterygoid - levator synkinesis", "pterygoid - levator synkinesis" ], [ "trigemino - oculomotor synkinesis", "trigemino - oculomotor synkinesis" ] ], "xref": [], "is_a": [ "HP:0000496" ], "is_obsolete": "", "replace_id": "" }, "HP:0025188": { "name": [ "retinal vasculitis", "retinal vasculitis" ], "alt_id": [], "def": "Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion.", "synonym": [], "xref": [], "is_a": [ "HP:0008046" ], "is_obsolete": "", "replace_id": "" }, "HP:0025190": { "name": [ "bilateral tonic - clonic seizure with generalized onset", "bilateral tonic - clonic seizure with generalized onset" ], "alt_id": [], "def": "A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.", "synonym": [ [ "bilateral tonic - clonic seizure with generalised onset", "bilateral tonic - clonic seizure with generalised onset" ], [ "generalised tonic - clonic seizure without focal onset", "generalise tonic - clonic seizure without focal onset" ], [ "generalised tonic - clonic seizure without partial onset", "generalise tonic - clonic seizure without partial onset" ], [ "generalised tonic - clonic seizures without focal onset", "generalise tonic - clonic seizure without focal onset" ], [ "generalised - onset tonic - clonic seizure", "generalise - onset tonic - clonic seizure" ], [ "generalized tonic - clonic seizure without focal onset", "generalize tonic - clonic seizure without focal onset" ], [ "generalized tonic - clonic seizure without partial onset", "generalize tonic - clonic seizure without partial onset" ], [ "generalized tonic - clonic seizures without focal onset", "generalize tonic - clonic seizure without focal onset" ], [ "generalized - onset tonic - clonic seizure", "generalize - onset tonic - clonic seizure" ], [ "primarily generalised tonic - clonic seizures", "primarily generalise tonic - clonic seizure" ], [ "primarily generalized tonic - clonic seizures", "primarily generalize tonic - clonic seizure" ], [ "primary generalised tonic - clonic seizure", "primary generalise tonic - clonic seizure" ], [ "primary generalised tonic - clonic seizures", "primary generalise tonic - clonic seizure" ], [ "primary generalized tonic - clonic seizure", "primary generalize tonic - clonic seizure" ], [ "primary generalized tonic - clonic seizures", "primary generalize tonic - clonic seizure" ] ], "xref": [], "is_a": [ "HP:0002069", "HP:0032677" ], "is_obsolete": "", "replace_id": "" }, "HP:0025191": { "name": [ "obsolete segmental myoclonic seizures", "obsolete segmental myoclonic seizure" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0011166" }, "HP:0025192": { "name": [ "subtentorial periventricular white matter hyperdensity", "subtentorial periventricular white matter hyperdensity" ], "alt_id": [], "def": "Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum).", "synonym": [], "xref": [], "is_a": [ "HP:0030891" ], "is_obsolete": "", "replace_id": "" }, "HP:0025193": { "name": [ "posterolateral diaphragmatic hernia", "posterolateral diaphragmatic hernia" ], "alt_id": [], "def": "A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.", "synonym": [ [ "bochdalek hernia", "bochdalek hernia" ] ], "xref": [], "is_a": [ "HP:0000776" ], "is_obsolete": "", "replace_id": "" }, "HP:0025194": { "name": [ "morgagni diaphragmatic hernia", "morgagni diaphragmatic hernia" ], "alt_id": [], "def": "An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.", "synonym": [ [ "morgagni hernia", "morgagni hernia" ] ], "xref": [], "is_a": [ "HP:0000776" ], "is_obsolete": "", "replace_id": "" }, "HP:0025195": { "name": [ "central diaphragmatic hernia", "central diaphragmatic hernia" ], "alt_id": [], "def": "A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present.", "synonym": [ [ "central hernia", "central hernia" ] ], "xref": [], "is_a": [ "HP:0000776" ], "is_obsolete": "", "replace_id": "" }, "HP:0025196": { "name": [ "increased total iron binding capacity", "increase total iron binding capacity" ], "alt_id": [], "def": "An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.", "synonym": [], "xref": [], "is_a": [ "HP:0033212" ], "is_obsolete": "", "replace_id": "" }, "HP:0025197": { "name": [ "inclusion body fibromatosis", "inclusion body fibromatosis" ], "alt_id": [], "def": "A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration.", "synonym": [ [ "digital fibrous tumor of reye", "digital fibrous tumor of reye" ], [ "digital fibrous tumour of reye", "digital fibrous tumour of reye" ], [ "infantile digital fibroma", "infantile digital fibroma" ], [ "infantile digital fibromatosis", "infantile digital fibromatosis" ] ], "xref": [], "is_a": [ "HP:0012316" ], "is_obsolete": "", "replace_id": "" }, "HP:0025198": { "name": [ "inflammatory cap polyp", "inflammatory cap polyp" ], "alt_id": [], "def": "A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp.", "synonym": [], "xref": [], "is_a": [ "HP:0005266" ], "is_obsolete": "", "replace_id": "" }, "HP:0025200": { "name": [ "muscle fiber actin filament accumulation", "muscle fiber actin filament accumulation" ], "alt_id": [], "def": "Accumulation in muscle cells of filaments composed of actin.", "synonym": [ [ "muscle fibre actin filament accumulation", "muscle fibre actin filament accumulation" ] ], "xref": [], "is_a": [ "HP:0100299" ], "is_obsolete": "", "replace_id": "" }, "HP:0025201": { "name": [ "abnormal circulating apolipoprotein concentration", "abnormal circulate apolipoprotein concentration" ], "alt_id": [], "def": "A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation.", "synonym": [ [ "abnormal apolipoprotein level", "abnormal apolipoprotein level" ] ], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0025202": { "name": [ "elevated circulating apolipoprotein a - iv concentration", "elevate circulate apolipoprotein a - iv concentration" ], "alt_id": [], "def": "An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II.", "synonym": [ [ "elevated apolipoprotein a - iv level", "elevate apolipoprotein a - iv level" ] ], "xref": [], "is_a": [ "HP:0033460" ], "is_obsolete": "", "replace_id": "" }, "HP:0025203": { "name": [ "caput medusae", "caput medusa" ], "alt_id": [], "def": "Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins.", "synonym": [ [ "palm tree sign", "palm tree sign" ] ], "xref": [], "is_a": [ "HP:0030168" ], "is_obsolete": "", "replace_id": "" }, "HP:0025204": { "name": [ "triggered by", "trigger by" ], "alt_id": [], "def": "A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0012823" ], "is_obsolete": "", "replace_id": "" }, "HP:0025205": { "name": [ "triggered by breast feeding", "trigger by breast feeding" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant.", "synonym": [ [ "breastfeeding triggered symptoms", "breastfeeding trigger symptom" ], [ "triggered by breastfeeding", "trigger by breastfeed" ] ], "xref": [], "is_a": [ "HP:0033793" ], "is_obsolete": "", "replace_id": "" }, "HP:0025206": { "name": [ "triggered by cold", "trigger by cold" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings.", "synonym": [ [ "cold triggered symptoms", "cold trigger symptom" ], [ "triggered by cold temperature", "trigger by cold temperature" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025207": { "name": [ "triggered by dehydration", "trigger by dehydration" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water.", "synonym": [ [ "dehydration triggered symptoms", "dehydration trigger symptom" ], [ "triggered by dehydration", "trigger by dehydration" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025208": { "name": [ "triggered by carbohydrate ingestion", "trigger by carbohydrate ingestion" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates.", "synonym": [ [ "carbohydrate ingestion triggered symptoms", "carbohydrate ingestion trigger symptom" ], [ "triggered by carbohydrate ingestion", "trigger by carbohydrate ingestion" ] ], "xref": [], "is_a": [ "HP:0033793" ], "is_obsolete": "", "replace_id": "" }, "HP:0025209": { "name": [ "triggered by fructose ingestion", "trigger by fructose ingestion" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose.", "synonym": [ [ "trigged by fruit sugar", "trigged by fruit sugar" ] ], "xref": [], "is_a": [ "HP:0025208" ], "is_obsolete": "", "replace_id": "" }, "HP:0025210": { "name": [ "triggered by glucose ingestion", "trigger by glucose ingestion" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose.", "synonym": [], "xref": [], "is_a": [ "HP:0025208" ], "is_obsolete": "", "replace_id": "" }, "HP:0025211": { "name": [ "triggered by ethanol ingestion", "trigger by ethanol ingestion" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol.", "synonym": [ [ "ethanol ingestion triggered symptoms", "ethanol ingestion trigger symptom" ], [ "triggered by alcohol ingestion", "trigger by alcohol ingestion" ] ], "xref": [], "is_a": [ "HP:0033793" ], "is_obsolete": "", "replace_id": "" }, "HP:0025212": { "name": [ "triggered by fasting", "trigger by fast" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting).", "synonym": [ [ "fasting triggered attacks", "fasting trigger attack" ], [ "fasting triggered symptoms", "fast trigger symptom" ], [ "triggered by fasting", "trigger by fast" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025213": { "name": [ "triggered by galactose ingestion", "trigger by galactose ingestion" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose.", "synonym": [ [ "triggered by ingestion of lactose - containing milk", "trigger by ingestion of lactose - contain milk" ] ], "xref": [], "is_a": [ "HP:0025208" ], "is_obsolete": "", "replace_id": "" }, "HP:0025214": { "name": [ "triggered by heat", "trigger by heat" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by exposure to heat.", "synonym": [ [ "heat triggered symptoms", "heat trigger symptom" ], [ "triggered by heat", "trigger by heat" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025215": { "name": [ "triggered by febrile illness", "trigger by febrile illness" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by febrile illness.", "synonym": [ [ "febrile illness triggered symptoms", "febrile illness trigger symptom" ], [ "triggered by fever", "trigger by fever" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025216": { "name": [ "triggered by heavy meal", "trigger by heavy meal" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal.", "synonym": [ [ "heavy meal triggered symptoms", "heavy meal trigger symptom" ], [ "triggered by overeating", "trigger by overeat" ] ], "xref": [], "is_a": [ "HP:0033793" ], "is_obsolete": "", "replace_id": "" }, "HP:0025217": { "name": [ "triggered by high - fat diet", "trigger by high - fat diet" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids.", "synonym": [ [ "high - fat diet triggered symptoms", "high - fat diet trigger symptom" ], [ "triggered by high - fat diet", "trigger by high - fat diet" ] ], "xref": [], "is_a": [ "HP:0033793" ], "is_obsolete": "", "replace_id": "" }, "HP:0025218": { "name": [ "triggered by hyperventilation", "trigger by hyperventilation" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing.", "synonym": [ [ "hyperventilation triggered symptoms", "hyperventilation trigger symptom" ], [ "triggered by hyperventilation", "trigger by hyperventilation" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025219": { "name": [ "triggered by vaccination", "trigger by vaccination" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by a vaccination.", "synonym": [ [ "triggered by immunisation", "trigger by immunisation" ], [ "triggered by immunization", "trigger by immunization" ], [ "triggered by vaccination", "trigger by vaccination" ], [ "vaccination triggered symptoms", "vaccination trigger symptom" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025220": { "name": [ "triggered by menstruation", "trigger by menstruation" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by menstruation in a female.", "synonym": [ [ "menstruation triggered symptoms", "menstruation trigger symptom" ], [ "triggered by monthly period", "trigger by monthly period" ], [ "triggered by period", "trigger by period" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025221": { "name": [ "triggered by pregnancy", "trigger by pregnancy" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by pregnancy in a female.", "synonym": [ [ "pregnancy triggered symptoms", "pregnancy trigger symptom" ], [ "triggered by pregnancy", "trigger by pregnancy" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025222": { "name": [ "triggered by sleep deprivation", "trigger by sleep deprivation" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep.", "synonym": [ [ "sleep deprivation triggered symptoms", "sleep deprivation trigger symptom" ], [ "triggered by sleep deprivation", "trigger by sleep deprivation" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025223": { "name": [ "triggered by smoking", "trigger by smoke" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by smoking.", "synonym": [ [ "smoking triggered symptoms", "smoking trigger symptom" ], [ "triggered by cigarette consumption", "trigger by cigarette consumption" ], [ "triggered by smoking", "trigger by smoke" ], [ "triggered by tobacco use", "trigger by tobacco use" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025224": { "name": [ "triggered by sodium ingestion", "trigger by sodium ingestion" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium.", "synonym": [ [ "sodium ingestion triggered symptoms", "sodium ingestion trigger symptom" ], [ "sodium intake triggered attacks", "sodium intake trigger attack" ], [ "triggered by na ingestion", "trigger by na ingestion" ], [ "triggered by na+ ingestion", "trigger by na+ ingestion" ], [ "triggered by salt ingestion", "trigger by salt ingestion" ], [ "triggered by sodium intake", "trigger by sodium intake" ] ], "xref": [], "is_a": [ "HP:0033793" ], "is_obsolete": "", "replace_id": "" }, "HP:0025225": { "name": [ "triggered by sound", "trigger by sound" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise.", "synonym": [ [ "sound triggered symptoms", "sound trigger symptom" ], [ "triggered by sound", "trigger by sound" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025226": { "name": [ "triggered by stress", "trigger by stress" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension.", "synonym": [ [ "stress triggered symptoms", "stress trigger symptom" ], [ "triggered by stress", "trigger by stress" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025227": { "name": [ "triggered by excitement", "trigger by excitement" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled.", "synonym": [ [ "excitement triggered symptoms", "excitement trigger symptom" ], [ "triggered by excitement", "trigger by excitement" ], [ "triggered by startle", "trigger by startle" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025228": { "name": [ "triggered by sudden movement", "trigger by sudden movement" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by a sudden movement.", "synonym": [ [ "kinesigenic", "kinesigenic" ], [ "sudden movement triggered symptoms", "sudden movement trigger symptom" ], [ "triggered by sudden movement", "trigger by sudden movement" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025229": { "name": [ "triggered by vestibular stimulation", "trigger by vestibular stimulation" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair.", "synonym": [ [ "vestibular stimulation triggered attacks", "vestibular stimulation trigger attack" ], [ "vestibular stimulation triggered symptoms", "vestibular stimulation trigger symptom" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025230": { "name": [ "tendonitis", "tendonitis" ], "alt_id": [], "def": "Inflammation of a tendon.", "synonym": [ [ "teninitis", "teninitis" ] ], "xref": [], "is_a": [ "HP:0100261" ], "is_obsolete": "", "replace_id": "" }, "HP:0025231": { "name": [ "abnormality of synovial bursa morphology", "abnormality of synovial bursa morphology" ], "alt_id": [], "def": "A structural anomaly of a synovial bursa.", "synonym": [], "xref": [], "is_a": [ "HP:0011842" ], "is_obsolete": "", "replace_id": "" }, "HP:0025232": { "name": [ "bursitis", "bursitis" ], "alt_id": [], "def": "Inflammation of a synovial bursa.", "synonym": [], "xref": [], "is_a": [ "HP:0025231" ], "is_obsolete": "", "replace_id": "" }, "HP:0025233": { "name": [ "sleep paralysis", "sleep paralysis" ], "alt_id": [], "def": "An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes.", "synonym": [], "xref": [], "is_a": [ "HP:0002360" ], "is_obsolete": "", "replace_id": "" }, "HP:0025234": { "name": [ "parasomnia", "parasomnia" ], "alt_id": [], "def": "An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep.", "synonym": [], "xref": [], "is_a": [ "HP:0002360" ], "is_obsolete": "", "replace_id": "" }, "HP:0025235": { "name": [ "non - rapid eye movement parasomnia", "non - rapid eye movement parasomnia" ], "alt_id": [], "def": "A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep).", "synonym": [ [ "nrem parasomnia", "nrem parasomnia" ] ], "xref": [], "is_a": [ "HP:0025234" ], "is_obsolete": "", "replace_id": "" }, "HP:0025236": { "name": [ "somnambulism", "somnambulism" ], "alt_id": [], "def": "Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated.", "synonym": [ [ "sleep walking", "sleep walking" ] ], "xref": [], "is_a": [ "HP:0025235" ], "is_obsolete": "", "replace_id": "" }, "HP:0025237": { "name": [ "confusional arousal", "confusional arousal" ], "alt_id": [], "def": "A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours.", "synonym": [], "xref": [], "is_a": [ "HP:0025235" ], "is_obsolete": "", "replace_id": "" }, "HP:0025238": { "name": [ "foot pain", "foot pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot.", "synonym": [ [ "foot pain", "foot pain" ] ], "xref": [], "is_a": [ "HP:0012514" ], "is_obsolete": "", "replace_id": "" }, "HP:0025239": { "name": [ "subhyaloid hemorrhage", "subhyaloid hemorrhage" ], "alt_id": [], "def": "A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area.", "synonym": [ [ "subhyaloid haemorrhage", "subhyaloid haemorrhage" ], [ "subhyaloid heme", "subhyaloid heme" ] ], "xref": [], "is_a": [ "HP:0025240" ], "is_obsolete": "", "replace_id": "" }, "HP:0025240": { "name": [ "preretinal hemorrhage", "preretinal hemorrhage" ], "alt_id": [], "def": "An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.", "synonym": [ [ "preretinal haemorrhage", "preretinal haemorrhage" ], [ "preretinal heme", "preretinal heme" ] ], "xref": [], "is_a": [ "HP:0031803" ], "is_obsolete": "", "replace_id": "" }, "HP:0025241": { "name": [ "flame - shaped retinal hemorrhage", "flame - shape retinal hemorrhage" ], "alt_id": [], "def": "A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells).", "synonym": [ [ "feathered retinal heme", "feather retinal heme" ], [ "flame - shaped retinal haemorrhage", "flame - shape retinal haemorrhage" ], [ "linear retina heme", "linear retina heme" ] ], "xref": [], "is_a": [ "HP:0031805" ], "is_obsolete": "", "replace_id": "" }, "HP:0025242": { "name": [ "dot - and - blot retinal hemorrhage", "dot - and - blot retinal hemorrhage" ], "alt_id": [], "def": "Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location.", "synonym": [ [ "dot - and - blot retinal haemorrhage", "dot - and - blot retinal haemorrhage" ], [ "round retinal heme", "round retinal heme" ] ], "xref": [], "is_a": [ "HP:0031805" ], "is_obsolete": "", "replace_id": "" }, "HP:0025243": { "name": [ "subretinal hemorrhage", "subretinal hemorrhage" ], "alt_id": [], "def": "Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium.", "synonym": [ [ "subretinal haemorrhage", "subretinal haemorrhage" ], [ "subretinal heme", "subretinal heme" ] ], "xref": [], "is_a": [ "HP:0000573" ], "is_obsolete": "", "replace_id": "" }, "HP:0025244": { "name": [ "subretinal pigment epithelium hemorrhage", "subretinal pigment epithelium hemorrhage" ], "alt_id": [], "def": "An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane.", "synonym": [ [ "subretinal pigment epithelium haemorrhage", "subretinal pigment epithelium haemorrhage" ] ], "xref": [], "is_a": [ "HP:0000573" ], "is_obsolete": "", "replace_id": "" }, "HP:0025245": { "name": [ "cutaneous cyst", "cutaneous cyst" ], "alt_id": [], "def": "A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material.", "synonym": [], "xref": [], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0025246": { "name": [ "trichilemmal cyst", "trichilemmal cyst" ], "alt_id": [], "def": "Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous.", "synonym": [ [ "pilar cyst", "pilar cyst" ] ], "xref": [], "is_a": [ "HP:0025245" ], "is_obsolete": "", "replace_id": "" }, "HP:0025247": { "name": [ "dermoid cyst", "dermoid cyst" ], "alt_id": [], "def": "A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are\\nslowly progressive and can grow to a size of 1 to 4 cm.", "synonym": [], "xref": [], "is_a": [ "HP:0025245" ], "is_obsolete": "", "replace_id": "" }, "HP:0025248": { "name": [ "eruptive vellus hair cyst", "eruptive vellus hair cyst" ], "alt_id": [], "def": "A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge.", "synonym": [], "xref": [], "is_a": [ "HP:0025245" ], "is_obsolete": "", "replace_id": "" }, "HP:0025249": { "name": [ "comedo", "comedo" ], "alt_id": [], "def": "A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).", "synonym": [], "xref": [], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0025250": { "name": [ "closed comedo", "close comedo" ], "alt_id": [], "def": "A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead.", "synonym": [ [ "whitehead", "whitehead" ] ], "xref": [], "is_a": [ "HP:0025249" ], "is_obsolete": "", "replace_id": "" }, "HP:0025251": { "name": [ "open comedo", "open comedo" ], "alt_id": [], "def": "A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black.", "synonym": [ [ "blackhead", "blackhead" ] ], "xref": [], "is_a": [ "HP:0025249" ], "is_obsolete": "", "replace_id": "" }, "HP:0025252": { "name": [ "geographic tongue", "geographic tongue" ], "alt_id": [], "def": "An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map.", "synonym": [ [ "annulus migrans", "annulus migrans" ], [ "benign migratory glossitis", "benign migratory glossitis" ], [ "glossitis areata exfoliativa", "glossitis areata exfoliativa" ], [ "lingual erythema migrans", "lingual erythema migrans" ], [ "wandering rash of the tongue", "wander rash of the tongue" ] ], "xref": [], "is_a": [ "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0025253": { "name": [ "claustrophobia", "claustrophobia" ], "alt_id": [], "def": "An abnormal fear of being in a closed or narrow space with no escape.", "synonym": [], "xref": [], "is_a": [ "HP:0100852" ], "is_obsolete": "", "replace_id": "" }, "HP:0025254": { "name": [ "ameliorated by", "ameliorate by" ], "alt_id": [], "def": "An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable", "synonym": [ [ "improved by", "improve by" ] ], "xref": [], "is_a": [ "HP:0012823" ], "is_obsolete": "", "replace_id": "" }, "HP:0025255": { "name": [ "ameliorated by pregnancy", "ameliorate by pregnancy" ], "alt_id": [], "def": "Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female.", "synonym": [ [ "pregnancy relieves symptoms", "pregnancy relief symptom" ] ], "xref": [], "is_a": [ "HP:0025254" ], "is_obsolete": "", "replace_id": "" }, "HP:0025256": { "name": [ "ameliorated by heat", "ameliorate by heat" ], "alt_id": [], "def": "Applies to a sign or symptom that is improved or made more bearable by heat (including fever).", "synonym": [ [ "fever improves condition", "fever improve condition" ], [ "heat improves condition", "heat improve condition" ], [ "heat improves symptom", "heat improve symptom" ] ], "xref": [], "is_a": [ "HP:0025254" ], "is_obsolete": "", "replace_id": "" }, "HP:0025257": { "name": [ "ameliorated by carbohydrate ingestion", "ameliorate by carbohydrate ingestion" ], "alt_id": [], "def": "Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar).", "synonym": [], "xref": [], "is_a": [ "HP:0025254" ], "is_obsolete": "", "replace_id": "" }, "HP:0025258": { "name": [ "stiff neck", "stiff neck" ], "alt_id": [], "def": "A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.", "synonym": [ [ "neck stiffness", "neck stiffness" ], [ "stiff neck", "stiff neck" ] ], "xref": [], "is_a": [ "HP:0001387", "HP:0005986" ], "is_obsolete": "", "replace_id": "" }, "HP:0025259": { "name": [ "stiff elbow", "stiff elbow" ], "alt_id": [], "def": "A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity.", "synonym": [ [ "elbow stiffness", "elbow stiffness" ], [ "stiff elbow", "stiff elbow" ] ], "xref": [], "is_a": [ "HP:0001387" ], "is_obsolete": "", "replace_id": "" }, "HP:0025260": { "name": [ "stiff wrist", "stiff wrist" ], "alt_id": [], "def": "A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity.", "synonym": [ [ "stiff wrist", "stiff wrist" ], [ "wrist stiffness", "wrist stiffness" ] ], "xref": [], "is_a": [ "HP:0001387" ], "is_obsolete": "", "replace_id": "" }, "HP:0025261": { "name": [ "stiff finger", "stiff finger" ], "alt_id": [], "def": "A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity.", "synonym": [ [ "finger stiffness", "finger stiffness" ], [ "stiff finger", "stiff finger" ] ], "xref": [], "is_a": [ "HP:0001387" ], "is_obsolete": "", "replace_id": "" }, "HP:0025262": { "name": [ "stiff hip", "stiff hip" ], "alt_id": [], "def": "A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity.", "synonym": [ [ "hip stiffness", "hip stiffness" ], [ "stiff hip", "stiff hip" ] ], "xref": [], "is_a": [ "HP:0001387" ], "is_obsolete": "", "replace_id": "" }, "HP:0025263": { "name": [ "stiff knee", "stiff knee" ], "alt_id": [], "def": "A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity.", "synonym": [ [ "knee stiffness", "knee stiffness" ], [ "stiff knee", "stiff knee" ] ], "xref": [], "is_a": [ "HP:0001387" ], "is_obsolete": "", "replace_id": "" }, "HP:0025264": { "name": [ "stiff ankle", "stiff ankle" ], "alt_id": [], "def": "A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity.", "synonym": [ [ "ankle stiffness", "ankle stiffness" ], [ "stiff ankle", "stiff ankle" ] ], "xref": [], "is_a": [ "HP:0001387" ], "is_obsolete": "", "replace_id": "" }, "HP:0025265": { "name": [ "stiff toe", "stiff toe" ], "alt_id": [], "def": "A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity.", "synonym": [ [ "stiff toe", "stiff toe" ], [ "toe stiffness", "toe stiffness" ] ], "xref": [], "is_a": [ "HP:0001387" ], "is_obsolete": "", "replace_id": "" }, "HP:0025266": { "name": [ "cervical osteoarthritis", "cervical osteoarthritis" ], "alt_id": [], "def": "Degeneration (wear and tear) of the articular cartilage of the neck joints.", "synonym": [], "xref": [], "is_a": [ "HP:0002758" ], "is_obsolete": "", "replace_id": "" }, "HP:0025267": { "name": [ "snoring", "snore" ], "alt_id": [], "def": "Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping.", "synonym": [ [ "snore", "snore" ], [ "snores", "snore" ], [ "snoring symptoms", "snore symptom" ] ], "xref": [], "is_a": [ "HP:0002360", "HP:0002793" ], "is_obsolete": "", "replace_id": "" }, "HP:0025268": { "name": [ "stuttering", "stutter" ], "alt_id": [], "def": "Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds.", "synonym": [ [ "stammering", "stammer" ], [ "stuttering", "stutter" ] ], "xref": [], "is_a": [ "HP:0002167" ], "is_obsolete": "", "replace_id": "" }, "HP:0025269": { "name": [ "panic attack", "panic attack" ], "alt_id": [], "def": "A sudden episode of intense fear in a situation in which there is no danger or apparent cause.", "synonym": [ [ "panic attack", "panic attack" ] ], "xref": [], "is_a": [ "HP:0033052", "HP:0100852" ], "is_obsolete": "", "replace_id": "" }, "HP:0025270": { "name": [ "abnormal esophagus physiology", "abnormal esophagus physiology" ], "alt_id": [], "def": "Any physiological abnormality of the esophagus.", "synonym": [ [ "abnormality of esophagus physiology", "abnormality of esophagus physiology" ], [ "abnormality of oesophagus physiology", "abnormality of oesophagus physiology" ], [ "functional abnormality of the esophagus", "functional abnormality of the esophagus" ], [ "functional abnormality of the oesophagus", "functional abnormality of the oesophagus" ] ], "xref": [], "is_a": [ "HP:0012719" ], "is_obsolete": "", "replace_id": "" }, "HP:0025271": { "name": [ "esophageal spasms", "esophageal spasm" ], "alt_id": [], "def": "Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful.", "synonym": [], "xref": [], "is_a": [ "HP:0025270" ], "is_obsolete": "", "replace_id": "" }, "HP:0025272": { "name": [ "melasma", "melasma" ], "alt_id": [], "def": "Symmetrical, blotchy, brownish facial pigmentation.", "synonym": [ [ "chloasma", "chloasma" ], [ "facial melanosis", "facial melanosis" ] ], "xref": [], "is_a": [ "HP:0000953" ], "is_obsolete": "", "replace_id": "" }, "HP:0025273": { "name": [ "achilles tendonitis", "achilles tendonitis" ], "alt_id": [], "def": "Inflammation of the Achilles tendon.", "synonym": [], "xref": [], "is_a": [ "HP:0025230" ], "is_obsolete": "", "replace_id": "" }, "HP:0025274": { "name": [ "ovarian dermoid cyst", "ovarian dermoid cyst" ], "alt_id": [], "def": "An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others.", "synonym": [ [ "mature cystic ovarian teratoma", "mature cystic ovarian teratoma" ] ], "xref": [], "is_a": [ "HP:0000138", "HP:0012226" ], "is_obsolete": "", "replace_id": "" }, "HP:0025275": { "name": [ "lateral", "lateral" ], "alt_id": [], "def": "Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0025276": { "name": [ "abnormality of skin adnexa physiology", "abnormality of skin adnexa physiology" ], "alt_id": [], "def": "Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.", "synonym": [], "xref": [], "is_a": [ "HP:0001574" ], "is_obsolete": "", "replace_id": "" }, "HP:0025277": { "name": [ "gustatory sweating", "gustatory sweating" ], "alt_id": [], "def": "Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating).", "synonym": [], "xref": [], "is_a": [ "HP:0025276" ], "is_obsolete": "", "replace_id": "" }, "HP:0025278": { "name": [ "cold - induced sweating", "cold - induce sweating" ], "alt_id": [], "def": "Sweating provoked by cold temperature rather than by heat.", "synonym": [], "xref": [], "is_a": [ "HP:0025276" ], "is_obsolete": "", "replace_id": "" }, "HP:0025279": { "name": [ "migratory", "migratory" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0011008" ], "is_obsolete": "", "replace_id": "" }, "HP:0025280": { "name": [ "pain characteristic", "pain characteristic" ], "alt_id": [], "def": "A pain characteristic is defined as a subjective category or type of pain.", "synonym": [], "xref": [], "is_a": [ "HP:0012823" ], "is_obsolete": "", "replace_id": "" }, "HP:0025281": { "name": [ "sharp", "sharp" ], "alt_id": [], "def": "Applied to pain that is described as sharp, i.e., sudden and severe.", "synonym": [], "xref": [], "is_a": [ "HP:0025280" ], "is_obsolete": "", "replace_id": "" }, "HP:0025282": { "name": [ "dull", "dull" ], "alt_id": [], "def": "Applied to pain that is dull, i.e., not severe but that continues over a long period of time.", "synonym": [ [ "dull pain", "dull pain" ] ], "xref": [], "is_a": [ "HP:0025280" ], "is_obsolete": "", "replace_id": "" }, "HP:0025283": { "name": [ "tender", "tender" ], "alt_id": [], "def": "Applied to pain that is tender, i.e., elicited by touching the affected body part.", "synonym": [], "xref": [], "is_a": [ "HP:0025280" ], "is_obsolete": "", "replace_id": "" }, "HP:0025284": { "name": [ "sleep - interrupting", "sleep - interrupting" ], "alt_id": [], "def": "Applied to pain that wakes the affecting individual from sleep.", "synonym": [], "xref": [], "is_a": [ "HP:0025280" ], "is_obsolete": "", "replace_id": "" }, "HP:0025285": { "name": [ "aggravated by", "aggravate by" ], "alt_id": [], "def": "An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe.", "synonym": [ [ "exacerbated by", "exacerbate by" ] ], "xref": [], "is_a": [ "HP:0012823" ], "is_obsolete": "", "replace_id": "" }, "HP:0025286": { "name": [ "aggravated by activity", "aggravate by activity" ], "alt_id": [], "def": "Applied to a sign or symptom that is aggravated by activity, exertion, or exercise.", "synonym": [ [ "aggravated by exercise", "aggravate by exercise" ], [ "aggravated by exertion", "aggravate by exertion" ], [ "worse with activity", "bad with activity" ], [ "worsened by activity", "worsen by activity" ] ], "xref": [], "is_a": [ "HP:0025285" ], "is_obsolete": "", "replace_id": "" }, "HP:0025287": { "name": [ "axial", "axial" ], "alt_id": [], "def": "Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0025289": { "name": [ "cervical lymphadenopathy", "cervical lymphadenopathy" ], "alt_id": [], "def": "Enlarged lymph nodes in the neck.", "synonym": [ [ "swollen lymph nodes in the neck", "swollen lymph node in the neck" ] ], "xref": [], "is_a": [ "HP:0002716" ], "is_obsolete": "", "replace_id": "" }, "HP:0025290": { "name": [ "upper - body predominance", "upper - body predominance" ], "alt_id": [], "def": "Applies to an abnormality that affects the arms, trunk, head more than the legs.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0025291": { "name": [ "lower - body predominance", "low - body predominance" ], "alt_id": [], "def": "Applies to an abnormality that affects the legs more than the arms, trunk, head.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0025292": { "name": [ "acral", "acral" ], "alt_id": [], "def": "Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose).", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0025293": { "name": [ "distributed along blaschko lines", "distribute along blaschko line" ], "alt_id": [], "def": "Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0025294": { "name": [ "dermatomal", "dermatomal" ], "alt_id": [], "def": "Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution.", "synonym": [ [ "radicular", "radicular" ] ], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0025295": { "name": [ "herpetiform", "herpetiform" ], "alt_id": [], "def": "Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0025296": { "name": [ "morbilliform", "morbilliform" ], "alt_id": [], "def": "Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0025297": { "name": [ "prolonged", "prolong" ], "alt_id": [], "def": "Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection).", "synonym": [], "xref": [], "is_a": [ "HP:0011008" ], "is_obsolete": "", "replace_id": "" }, "HP:0025300": { "name": [ "malar rash", "malar rash" ], "alt_id": [], "def": "An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.", "synonym": [ [ "butterfly rash", "butterfly rash" ], [ "cheekbone rash", "cheekbone rash" ] ], "xref": [], "is_a": [ "HP:0000988" ], "is_obsolete": "", "replace_id": "" }, "HP:0025301": { "name": [ "nocturnal", "nocturnal" ], "alt_id": [], "def": "Applies to an abnormality that occurs in or is exacerbated during the night.", "synonym": [], "xref": [], "is_a": [ "HP:0011008" ], "is_obsolete": "", "replace_id": "" }, "HP:0025302": { "name": [ "diurnal", "diurnal" ], "alt_id": [], "def": "Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time.", "synonym": [], "xref": [], "is_a": [ "HP:0011008" ], "is_obsolete": "", "replace_id": "" }, "HP:0025303": { "name": [ "episodic", "episodic" ], "alt_id": [], "def": "Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present.", "synonym": [ [ "now and then", "now and then" ] ], "xref": [], "is_a": [ "HP:0031796" ], "is_obsolete": "", "replace_id": "" }, "HP:0025304": { "name": [ "periodic", "periodic" ], "alt_id": [], "def": "Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length.", "synonym": [ [ "cyclic", "cyclic" ], [ "cyclical", "cyclical" ] ], "xref": [], "is_a": [ "HP:0031796" ], "is_obsolete": "", "replace_id": "" }, "HP:0025305": { "name": [ "quotidian", "quotidian" ], "alt_id": [], "def": "Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours).", "synonym": [], "xref": [], "is_a": [ "HP:0025304" ], "is_obsolete": "", "replace_id": "" }, "HP:0025306": { "name": [ "acute emergence over minutes", "acute emergence over minute" ], "alt_id": [], "def": "Acute appearance of disease manifestations in a period of minutes.", "synonym": [], "xref": [], "is_a": [ "HP:0011009" ], "is_obsolete": "", "replace_id": "" }, "HP:0025307": { "name": [ "acute emergence over hours", "acute emergence over hour" ], "alt_id": [], "def": "Acute appearance of disease manifestations in a period of hours.", "synonym": [], "xref": [], "is_a": [ "HP:0011009" ], "is_obsolete": "", "replace_id": "" }, "HP:0025308": { "name": [ "acute emergence over days", "acute emergence over day" ], "alt_id": [], "def": "Acute appearance of disease manifestations in a period of days.", "synonym": [], "xref": [], "is_a": [ "HP:0011009" ], "is_obsolete": "", "replace_id": "" }, "HP:0025309": { "name": [ "abnormal pupil shape", "abnormal pupil shape" ], "alt_id": [], "def": "A deviation from the normal circular shape of the pupil", "synonym": [ [ "irregular pupil", "irregular pupil" ] ], "xref": [], "is_a": [ "HP:0000615" ], "is_obsolete": "", "replace_id": "" }, "HP:0025310": { "name": [ "oval pupil", "oval pupil" ], "alt_id": [], "def": "An abnormal pupil shape that is elliptical, i.e., egg-like.", "synonym": [], "xref": [], "is_a": [ "HP:0025309" ], "is_obsolete": "", "replace_id": "" }, "HP:0025311": { "name": [ "anterior chamber cyst", "anterior chamber cyst" ], "alt_id": [], "def": "A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material.", "synonym": [], "xref": [], "is_a": [ "HP:0000593" ], "is_obsolete": "", "replace_id": "" }, "HP:0025312": { "name": [ "esophoria", "esophoria" ], "alt_id": [], "def": "A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.", "synonym": [], "xref": [], "is_a": [ "HP:0020045", "HP:0032011" ], "is_obsolete": "", "replace_id": "" }, "HP:0025313": { "name": [ "exophoria", "exophoria" ], "alt_id": [], "def": "A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.", "synonym": [], "xref": [], "is_a": [ "HP:0020049", "HP:0032011" ], "is_obsolete": "", "replace_id": "" }, "HP:0025314": { "name": [ "choroidal nevus", "choroidal nevus" ], "alt_id": [], "def": "A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia.", "synonym": [], "xref": [], "is_a": [ "HP:0000610" ], "is_obsolete": "", "replace_id": "" }, "HP:0025315": { "name": [ "exacerbated by head trauma", "exacerbate by head trauma" ], "alt_id": [], "def": "Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma.", "synonym": [], "xref": [], "is_a": [ "HP:0025285" ], "is_obsolete": "", "replace_id": "" }, "HP:0025317": { "name": [ "cubitus varus", "cubitus varus" ], "alt_id": [], "def": "A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body.", "synonym": [], "xref": [], "is_a": [ "HP:0009811" ], "is_obsolete": "", "replace_id": "" }, "HP:0025318": { "name": [ "ovarian carcinoma", "ovarian carcinoma" ], "alt_id": [], "def": "A malignant neoplasm originating from the surface ovarian epithelium.", "synonym": [ [ "ovarian epithelial cancer", "ovarian epithelial cancer" ] ], "xref": [ "NCIT:C4908" ], "is_a": [ "HP:0100615" ], "is_obsolete": "", "replace_id": "" }, "HP:0025319": { "name": [ "rubeosis iridis", "rubeosis iridis" ], "alt_id": [], "def": "Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification.", "synonym": [], "xref": [], "is_a": [ "HP:0007905" ], "is_obsolete": "", "replace_id": "" }, "HP:0025320": { "name": [ "leakage of dye on fundus fluorescein angiography", "leakage of dye on fundus fluorescein angiography" ], "alt_id": [], "def": "Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins.", "synonym": [ [ "fluorescein leakage", "fluorescein leakage" ] ], "xref": [], "is_a": [ "HP:0030604" ], "is_obsolete": "", "replace_id": "" }, "HP:0025321": { "name": [ "copper accumulation in liver", "copper accumulation in liver" ], "alt_id": [], "def": "An anomalous build up of copper (Cu) in the liver.", "synonym": [ [ "liver copper accumulation", "liver copper accumulation" ] ], "xref": [], "is_a": [ "HP:0032243" ], "is_obsolete": "", "replace_id": "" }, "HP:0025322": { "name": [ "venous occlusion", "venous occlusion" ], "alt_id": [], "def": "Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.", "synonym": [], "xref": [], "is_a": [ "HP:0030846" ], "is_obsolete": "", "replace_id": "" }, "HP:0025323": { "name": [ "abnormal arterial physiology", "abnormal arterial physiology" ], "alt_id": [], "def": "An anomaly of arterial function.", "synonym": [], "xref": [], "is_a": [ "HP:0030163" ], "is_obsolete": "", "replace_id": "" }, "HP:0025324": { "name": [ "arterial occlusion", "arterial occlusion" ], "alt_id": [], "def": "Blockage of blood flow through an artery.", "synonym": [], "xref": [], "is_a": [ "HP:0025323" ], "is_obsolete": "", "replace_id": "" }, "HP:0025325": { "name": [ "sparse medial eyebrow", "sparse medial eyebrow" ], "alt_id": [], "def": "Decreased density/number and/or decreased diameter of medial eyebrow hairs.", "synonym": [ [ "medial thinning of eyebrow", "medial thinning of eyebrow" ] ], "xref": [], "is_a": [ "HP:0045075" ], "is_obsolete": "", "replace_id": "" }, "HP:0025326": { "name": [ "retinal arterial occlusion", "retinal arterial occlusion" ], "alt_id": [], "def": "Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina.", "synonym": [ [ "retinal artery occlusion", "retinal artery occlusion" ] ], "xref": [], "is_a": [ "HP:0000630" ], "is_obsolete": "", "replace_id": "" }, "HP:0025327": { "name": [ "decreased renal parenchymal thickness", "decrease renal parenchymal thickness" ], "alt_id": [], "def": "Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans.", "synonym": [], "xref": [], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0025328": { "name": [ "antepartum hemorrhage", "antepartum hemorrhage" ], "alt_id": [], "def": "Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby.", "synonym": [ [ "antepartum haemorrhage", "antepartum haemorrhage" ], [ "prepartum haemorrhage", "prepartum haemorrhage" ], [ "prepartum hemorrhage", "prepartum hemorrhage" ] ], "xref": [], "is_a": [ "HP:0011029" ], "is_obsolete": "", "replace_id": "" }, "HP:0025329": { "name": [ "anti - glutamic acid decarboxylase antibody positivity", "anti - glutamic acid decarboxylase antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.", "synonym": [ [ "anti - gad antibody positivity", "anti - gad antibody positivity" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0025330": { "name": [ "downgaze palsy", "downgaze palsy" ], "alt_id": [], "def": "A limitation of the ability to direct one's gaze below the horizontal meridian.", "synonym": [ [ "downgaze paresis", "downgaze paresis" ], [ "supranuclear downgaze palsy", "supranuclear downgaze palsy" ] ], "xref": [], "is_a": [ "HP:0000511" ], "is_obsolete": "", "replace_id": "" }, "HP:0025331": { "name": [ "upgaze palsy", "upgaze palsy" ], "alt_id": [], "def": "A limitation of the ability to direct one's gaze above the horizontal meridian.", "synonym": [ [ "supranuclear upgaze palsy", "supranuclear upgaze palsy" ], [ "upgaze paresis", "upgaze paresis" ] ], "xref": [], "is_a": [ "HP:0000511" ], "is_obsolete": "", "replace_id": "" }, "HP:0025332": { "name": [ "abnormality of foot cortical bone", "abnormality of foot cortical bone" ], "alt_id": [], "def": "An anomaly of the outer shell (cortex) of a foot bone.", "synonym": [ [ "abnormality of the cortex of foot bones", "abnormality of the cortex of foot bone" ] ], "xref": [], "is_a": [ "HP:0003103" ], "is_obsolete": "", "replace_id": "" }, "HP:0025333": { "name": [ "cortical thinning of foot bones", "cortical thinning of foot bone" ], "alt_id": [], "def": "A reduction in the thickness of the outer shell (cortex) of foot bones.", "synonym": [], "xref": [], "is_a": [ "HP:0025332" ], "is_obsolete": "", "replace_id": "" }, "HP:0025334": { "name": [ "triggered by emotion", "trigger by emotion" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion).", "synonym": [ [ "emotion triggered symptoms", "emotion trigger symptom" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025335": { "name": [ "delayed ability to stand", "delay ability to stand" ], "alt_id": [], "def": "A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.", "synonym": [], "xref": [], "is_a": [ "HP:0002194" ], "is_obsolete": "", "replace_id": "" }, "HP:0025336": { "name": [ "delayed ability to sit", "delay ability to sit" ], "alt_id": [], "def": "A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.", "synonym": [], "xref": [], "is_a": [ "HP:0002194" ], "is_obsolete": "", "replace_id": "" }, "HP:0025337": { "name": [ "red eye", "red eye" ], "alt_id": [], "def": "A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.", "synonym": [ [ "red eye", "red eye" ], [ "red eyes", "red eye" ] ], "xref": [], "is_a": [ "HP:0008047" ], "is_obsolete": "", "replace_id": "" }, "HP:0025338": { "name": [ "circumlimbal hyperemia", "circumlimbal hyperemia" ], "alt_id": [], "def": "A ring of redness at the limbus of the eye, the border between the cornea and the sclera.", "synonym": [ [ "ciliary limbus", "ciliary limbus" ], [ "circumlimbal hyperaemia", "circumlimbal hyperaemia" ] ], "xref": [], "is_a": [ "HP:0030953" ], "is_obsolete": "", "replace_id": "" }, "HP:0025339": { "name": [ "superficial episcleral hyperemia", "superficial episcleral hyperemia" ], "alt_id": [], "def": "Prominence of blood vessels of the superficial episcleral tissues.", "synonym": [ [ "superficial episcleral hypaeremia", "superficial episcleral hypaeremia" ] ], "xref": [], "is_a": [ "HP:0000591", "HP:0025337" ], "is_obsolete": "", "replace_id": "" }, "HP:0025340": { "name": [ "deep episcleral hyperemia", "deep episcleral hyperemia" ], "alt_id": [], "def": "Prominence of blood vessels of the deep episcleral tissues.", "synonym": [ [ "deep episcleral hyperaemia", "deep episcleral hyperaemia" ] ], "xref": [], "is_a": [ "HP:0000591", "HP:0025337" ], "is_obsolete": "", "replace_id": "" }, "HP:0025341": { "name": [ "corneal keratic precipitates", "corneal keratic precipitate" ], "alt_id": [], "def": "An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea.", "synonym": [], "xref": [], "is_a": [ "HP:0011488" ], "is_obsolete": "", "replace_id": "" }, "HP:0025342": { "name": [ "central retinal artery occlusion", "central retinal artery occlusion" ], "alt_id": [], "def": "Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss.", "synonym": [], "xref": [], "is_a": [ "HP:0025326", "HP:3000032" ], "is_obsolete": "", "replace_id": "" }, "HP:0025343": { "name": [ "lupus anticoagulant", "lupus anticoagulant" ], "alt_id": [], "def": "Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0025344": { "name": [ "interlobular bile duct destruction", "interlobular bile duct destruction" ], "alt_id": [], "def": "Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).", "synonym": [], "xref": [], "is_a": [ "HP:0011040" ], "is_obsolete": "", "replace_id": "" }, "HP:0025345": { "name": [ "abnormality of circulating beta - 2 - microglobulin level", "abnormality of circulate beta - 2 - microglobulin level" ], "alt_id": [], "def": "A deviation from the normal concentration of beta-2-microglobulin in the blood.", "synonym": [ [ "abnormality of circulating b2m level", "abnormality of circulate b2m level" ], [ "abnormality of circulating beta2 microglobulin level", "abnormality of circulate beta2 microglobulin level" ], [ "abnormality of circulating beta2 - m level", "abnormality of circulate beta2 - m level" ], [ "abnormality of circulating beta2m level", "abnormality of circulate beta2m level" ] ], "xref": [], "is_a": [ "HP:0025465" ], "is_obsolete": "", "replace_id": "" }, "HP:0025346": { "name": [ "increased circulating beta - 2 - microglobulin level", "increase circulate beta - 2 - microglobulin level" ], "alt_id": [], "def": "Elevated concentration of beta-2-microglobulin in the blood.", "synonym": [ [ "elevated circulating beta - 2 - microglobulin level", "elevate circulate beta - 2 - microglobulin level" ] ], "xref": [], "is_a": [ "HP:0025345" ], "is_obsolete": "", "replace_id": "" }, "HP:0025347": { "name": [ "decreased circulating beta - 2 - microglobulin level", "decrease circulate beta - 2 - microglobulin level" ], "alt_id": [], "def": "Reduced concentration of beta-2-microglobulin in the blood.", "synonym": [ [ "reduced circulating beta - 2 - microglobulin level", "reduce circulate beta - 2 - microglobulin level" ] ], "xref": [], "is_a": [ "HP:0025345" ], "is_obsolete": "", "replace_id": "" }, "HP:0025348": { "name": [ "abnormality of the corneal limbus", "abnormality of the corneal limbus" ], "alt_id": [], "def": "An anomaly of the margin of the cornea overlapped by the sclera.", "synonym": [], "xref": [], "is_a": [ "HP:0000481" ], "is_obsolete": "", "replace_id": "" }, "HP:0025349": { "name": [ "limbal edema", "limbal edema" ], "alt_id": [], "def": "Swelling of the margin of the cornea overlapped by the sclera.", "synonym": [ [ "limbal oedema", "limbal oedema" ] ], "xref": [], "is_a": [ "HP:0025348" ], "is_obsolete": "", "replace_id": "" }, "HP:0025350": { "name": [ "giant conjunctival papillae", "giant conjunctival papilla" ], "alt_id": [], "def": "Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein.", "synonym": [], "xref": [], "is_a": [ "HP:0030946" ], "is_obsolete": "", "replace_id": "" }, "HP:0025351": { "name": [ "recurrent interdigital mycosis", "recurrent interdigital mycosis" ], "alt_id": [], "def": "A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers.", "synonym": [ [ "recurrent interdigital tinea", "recurrent interdigital tinea" ] ], "xref": [], "is_a": [ "HP:0002841" ], "is_obsolete": "", "replace_id": "" }, "HP:0025352": { "name": [ "autosomal dominant germline de novo mutation", "autosomal dominant germline de novo mutation" ], "alt_id": [], "def": "Being related to a mutation that gamete that participates in fertilization. All cells of the emerging organism will be affected and the variant canl be passed on to the next generation.", "synonym": [], "xref": [], "is_a": [ "HP:0000006" ], "is_obsolete": "", "replace_id": "" }, "HP:0025353": { "name": [ "anti - multiple nuclear dots antibody positivity", "anti - multiple nuclear dot antibody positivity" ], "alt_id": [], "def": "A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells.", "synonym": [ [ "anti - mnd antibodies", "anti - mnd antibody" ], [ "anti - sp100 antibody positivity", "anti - sp100 antibody positivity" ] ], "xref": [], "is_a": [ "HP:0003493" ], "is_obsolete": "", "replace_id": "" }, "HP:0025354": { "name": [ "abnormal cellular phenotype", "abnormal cellular phenotype" ], "alt_id": [], "def": "An anomaly of cellular morphology or physiology.", "synonym": [], "xref": [], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0025355": { "name": [ "retinal arterial macroaneurysms", "retinal arterial macroaneurysms" ], "alt_id": [], "def": "Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative.", "synonym": [], "xref": [], "is_a": [ "HP:0000630" ], "is_obsolete": "", "replace_id": "" }, "HP:0025356": { "name": [ "psychomotor retardation", "psychomotor retardation" ], "alt_id": [], "def": "", "synonym": [ [ "motormental retardation", "motormental retardation" ], [ "psychomotor impairment", "psychomotor impairment" ], [ "psychomotor slowing", "psychomotor slow" ] ], "xref": [], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0025357": { "name": [ "erratic myoclonus", "erratic myoclonus" ], "alt_id": [], "def": "A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.", "synonym": [ [ "fragmentary myoclonus", "fragmentary myoclonus" ] ], "xref": [], "is_a": [ "HP:0001336" ], "is_obsolete": "", "replace_id": "" }, "HP:0025358": { "name": [ "uveal ectropion", "uveal ectropion" ], "alt_id": [], "def": "Presence of iris pigment epithelium on the anterior surface of the iris.", "synonym": [ [ "ectropion uveae", "ectropion uveae" ] ], "xref": [], "is_a": [ "HP:0000525" ], "is_obsolete": "", "replace_id": "" }, "HP:0025359": { "name": [ "polygonal renal calices", "polygonal renal calices" ], "alt_id": [], "def": "An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).", "synonym": [ [ "polygonal calices", "polygonal calices" ], [ "polygonal - shaped calices", "polygonal - shape calices" ] ], "xref": [], "is_a": [ "HP:0011130" ], "is_obsolete": "", "replace_id": "" }, "HP:0025360": { "name": [ "polycalycosis", "polycalycosis" ], "alt_id": [], "def": "Increased number of calices of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0011130" ], "is_obsolete": "", "replace_id": "" }, "HP:0025361": { "name": [ "abnormality of medullary pyramid morphology", "abnormality of medullary pyramid morphology" ], "alt_id": [], "def": "A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.", "synonym": [], "xref": [], "is_a": [ "HP:0100957" ], "is_obsolete": "", "replace_id": "" }, "HP:0025362": { "name": [ "renal medullary pyramid hypoplasia", "renal medullary pyramid hypoplasia" ], "alt_id": [], "def": "Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.", "synonym": [ [ "hypoplasia of the medullary pyramids", "hypoplasia of the medullary pyramid" ] ], "xref": [], "is_a": [ "HP:0025361" ], "is_obsolete": "", "replace_id": "" }, "HP:0025363": { "name": [ "glomerular endocapillary hypercellularity", "glomerular endocapillary hypercellularity" ], "alt_id": [], "def": "Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.", "synonym": [ [ "endocapillary hypercellularity", "endocapillary hypercellularity" ] ], "xref": [], "is_a": [ "HP:0025006" ], "is_obsolete": "", "replace_id": "" }, "HP:0025364": { "name": [ "glomerular extracapillary hypercellularity", "glomerular extracapillary hypercellularity" ], "alt_id": [], "def": "Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells.", "synonym": [ [ "extracapillary glomerular hypercellularity", "extracapillary glomerular hypercellularity" ], [ "extracapillary hypercellularity", "extracapillary hypercellularity" ] ], "xref": [], "is_a": [ "HP:0000095" ], "is_obsolete": "", "replace_id": "" }, "HP:0025367": { "name": [ "trichoepithelioma", "trichoepithelioma" ], "alt_id": [], "def": "A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age.", "synonym": [], "xref": [], "is_a": [ "HP:0012843" ], "is_obsolete": "", "replace_id": "" }, "HP:0025368": { "name": [ "abnormality of growth plate morphology", "abnormality of growth plate morphology" ], "alt_id": [], "def": "A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone).", "synonym": [], "xref": [], "is_a": [ "HP:0011842" ], "is_obsolete": "", "replace_id": "" }, "HP:0025369": { "name": [ "thick growth plates", "thick growth plate" ], "alt_id": [], "def": "Increased thickness (dimension along the axis of the bone) of the growth plate.", "synonym": [], "xref": [], "is_a": [ "HP:0025368" ], "is_obsolete": "", "replace_id": "" }, "HP:0025370": { "name": [ "abnormal ossification of the sacrum", "abnormal ossification of the sacrum" ], "alt_id": [], "def": "Abnormal bone tissue formation (ossification) affecting the sacrum.", "synonym": [], "xref": [], "is_a": [ "HP:0005107" ], "is_obsolete": "", "replace_id": "" }, "HP:0025371": { "name": [ "delayed ossification of the sacrum", "delay ossification of the sacrum" ], "alt_id": [], "def": "Formation of the sacrum bone tissue occurs later than age-adjusted norms.", "synonym": [], "xref": [], "is_a": [ "HP:0025370" ], "is_obsolete": "", "replace_id": "" }, "HP:0025372": { "name": [ "loud snoring", "loud snoring" ], "alt_id": [], "def": "Particularly loud snoring, snoring at high volume.", "synonym": [ [ "has loud snoring", "have loud snore" ], [ "have loud snoring", "have loud snore" ], [ "heavy snoring", "heavy snoring" ], [ "snores loudly", "snore loudly" ] ], "xref": [], "is_a": [ "HP:0025267" ], "is_obsolete": "", "replace_id": "" }, "HP:0025373": { "name": [ "interictal eeg abnormality", "interictal eeg abnormality" ], "alt_id": [], "def": "Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.", "synonym": [], "xref": [], "is_a": [ "HP:0002353" ], "is_obsolete": "", "replace_id": "" }, "HP:0025374": { "name": [ "duplicated odontoid process", "duplicate odontoid process" ], "alt_id": [], "def": "The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates.", "synonym": [], "xref": [], "is_a": [ "HP:0003310" ], "is_obsolete": "", "replace_id": "" }, "HP:0025375": { "name": [ "orthotopic os odontoideum", "orthotopic o odontoideum" ], "alt_id": [], "def": "Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus.", "synonym": [], "xref": [], "is_a": [ "HP:0005667" ], "is_obsolete": "", "replace_id": "" }, "HP:0025376": { "name": [ "hyperglutaminuria", "hyperglutaminuria" ], "alt_id": [], "def": "An increased concentration of glutamine in the urine.", "synonym": [ [ "glutaminuria", "glutaminuria" ] ], "xref": [], "is_a": [ "HP:0033093" ], "is_obsolete": "", "replace_id": "" }, "HP:0025377": { "name": [ "triggered by exertion", "trigger by exertion" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise.", "synonym": [ [ "exertion triggered symptoms", "exertion trigger symptom" ], [ "triggered by physical exercise", "trigger by physical exercise" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0025379": { "name": [ "anti - thyroid peroxidase antibody positivity", "anti - thyroid peroxidase antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0025380": { "name": [ "increased circulating androstenedione concentration", "increase circulate androstenedione concentration" ], "alt_id": [], "def": "Increased concentration of androstenedione in the blood circulation.", "synonym": [ [ "increased serum androstenedione", "increase serum androstenedione" ] ], "xref": [], "is_a": [ "HP:0030348", "HP:0033811" ], "is_obsolete": "", "replace_id": "" }, "HP:0025381": { "name": [ "anti - pituitary antibody positivity", "anti - pituitary antibody positivity" ], "alt_id": [], "def": "Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0025382": { "name": [ "hypodipsia", "hypodipsia" ], "alt_id": [], "def": "Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.", "synonym": [], "xref": [], "is_a": [ "HP:0030082" ], "is_obsolete": "", "replace_id": "" }, "HP:0025383": { "name": [ "dorsocervical fat pad", "dorsocervical fat pad" ], "alt_id": [], "def": "An area of fat accumulation at the back of the neck in the form of a hump.", "synonym": [ [ "buffalo hump", "buffalo hump" ] ], "xref": [], "is_a": [ "HP:0001001" ], "is_obsolete": "", "replace_id": "" }, "HP:0025384": { "name": [ "diet - resistant subcutaneous adipose tissue", "diet - resistant subcutaneous adipose tissue" ], "alt_id": [], "def": "Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.", "synonym": [], "xref": [], "is_a": [ "HP:0009124" ], "is_obsolete": "", "replace_id": "" }, "HP:0025385": { "name": [ "diet - resistant subcutaneous adipose tissue below waist", "diet - resistant subcutaneous adipose tissue below waist" ], "alt_id": [], "def": "Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.", "synonym": [], "xref": [], "is_a": [ "HP:0025384" ], "is_obsolete": "", "replace_id": "" }, "HP:0025386": { "name": [ "bitemporal hollowing", "bitemporal hollowing" ], "alt_id": [], "def": "Depression of profile in both temporal regions.", "synonym": [], "xref": [], "is_a": [ "HP:0000606" ], "is_obsolete": "", "replace_id": "" }, "HP:0025387": { "name": [ "pill - rolling tremor", "pill - rolling tremor" ], "alt_id": [], "def": "A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other.", "synonym": [ [ "pill rolling", "pill roll" ] ], "xref": [], "is_a": [ "HP:0002322" ], "is_obsolete": "", "replace_id": "" }, "HP:0025388": { "name": [ "thyroid nodule", "thyroid nodule" ], "alt_id": [], "def": "A nodular lesion that develops in the thyroid gland. The term \\\"thyroid nodule\\", "synonym": [], "xref": [], "is_a": [ "HP:0011772" ], "is_obsolete": "", "replace_id": "" }, "HP:0025389": { "name": [ "pulmonary interstitial high - resolution computed tomography abnormality", "pulmonary interstitial high - resolution compute tomography abnormality" ], "alt_id": [], "def": "High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities.", "synonym": [ [ "pulmonary interstitiatial hrct abnormality", "pulmonary interstitiatial hrct abnormality" ] ], "xref": [], "is_a": [ "HP:0006530", "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0025390": { "name": [ "reticular pattern on pulmonary hrct", "reticular pattern on pulmonary hrct" ], "alt_id": [], "def": "On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh.", "synonym": [], "xref": [], "is_a": [ "HP:0025389" ], "is_obsolete": "", "replace_id": "" }, "HP:0025391": { "name": [ "crazy paving pattern", "crazy paving pattern" ], "alt_id": [], "def": "The so-called crazy paving pattern is characterised on HRCT by the presence of thickened interlobular septae and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones.", "synonym": [ [ "crazy paving pattern on pulmonary hrct", "crazy pave pattern on pulmonary hrct" ] ], "xref": [], "is_a": [ "HP:0025389" ], "is_obsolete": "", "replace_id": "" }, "HP:0025392": { "name": [ "nodular pattern on pulmonary hrct", "nodular pattern on pulmonary hrct" ], "alt_id": [], "def": "A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.", "synonym": [], "xref": [], "is_a": [ "HP:0025389" ], "is_obsolete": "", "replace_id": "" }, "HP:0025393": { "name": [ "reticulonodular pattern on pulmonary hrct", "reticulonodular pattern on pulmonary hrct" ], "alt_id": [], "def": "Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.", "synonym": [], "xref": [], "is_a": [ "HP:0025389" ], "is_obsolete": "", "replace_id": "" }, "HP:0025394": { "name": [ "cystic pattern on pulmonary hrct", "cystic pattern on pulmonary hrct" ], "alt_id": [], "def": "On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema.", "synonym": [], "xref": [], "is_a": [ "HP:0025389" ], "is_obsolete": "", "replace_id": "" }, "HP:0025395": { "name": [ "combined cystic and ground - glass pattern on pulmonary hrct", "combine cystic and ground - glass pattern on pulmonary hrct" ], "alt_id": [], "def": "Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,", "synonym": [], "xref": [], "is_a": [ "HP:0031457" ], "is_obsolete": "", "replace_id": "" }, "HP:0025396": { "name": [ "decreased attenuation pattern on pulmonary hrct", "decrease attenuation pattern on pulmonary hrct" ], "alt_id": [], "def": "Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography.", "synonym": [ [ "black lung pattern on pulmonary hrct", "black lung pattern on pulmonary hrct" ] ], "xref": [], "is_a": [ "HP:0025389" ], "is_obsolete": "", "replace_id": "" }, "HP:0025397": { "name": [ "mosaic attenuation pattern on pulmonary hrct", "mosaic attenuation pattern on pulmonary hrct" ], "alt_id": [], "def": "A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.", "synonym": [], "xref": [], "is_a": [ "HP:0025389" ], "is_obsolete": "", "replace_id": "" }, "HP:0025398": { "name": [ "nodular - perilymphatic pattern on pulmonary hrct", "nodular - perilymphatic pattern on pulmonary hrct" ], "alt_id": [], "def": "A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution.", "synonym": [], "xref": [], "is_a": [ "HP:0025392" ], "is_obsolete": "", "replace_id": "" }, "HP:0025399": { "name": [ "nodular - centrilobular with tree - in - bud pattern on pulmonary hrct", "nodular - centrilobular with tree - in - bud pattern on pulmonary hrct" ], "alt_id": [], "def": "A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree.", "synonym": [], "xref": [], "is_a": [ "HP:0025392" ], "is_obsolete": "", "replace_id": "" }, "HP:0025400": { "name": [ "nodular - random pattern on pulmonary hrct", "nodular - random pattern on pulmonary hrct" ], "alt_id": [], "def": "A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.", "synonym": [], "xref": [], "is_a": [ "HP:0025392" ], "is_obsolete": "", "replace_id": "" }, "HP:0025401": { "name": [ "staring gaze", "star gaze" ], "alt_id": [], "def": "An abnormality in which the eyes are held permanently wide open.", "synonym": [ [ "staring eyes", "star eye" ] ], "xref": [], "is_a": [ "HP:0012373" ], "is_obsolete": "", "replace_id": "" }, "HP:0025402": { "name": [ "square - wave jerks", "square - wave jerk" ], "alt_id": [], "def": "Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion.", "synonym": [], "xref": [], "is_a": [ "HP:0032114" ], "is_obsolete": "", "replace_id": "" }, "HP:0025403": { "name": [ "stooped posture", "stooped posture" ], "alt_id": [], "def": "A habitual positioning of the body with the head and upper back bent forward.", "synonym": [], "xref": [], "is_a": [ "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0025404": { "name": [ "abnormal visual fixation", "abnormal visual fixation" ], "alt_id": [], "def": "Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.", "synonym": [], "xref": [], "is_a": [ "HP:0000496" ], "is_obsolete": "", "replace_id": "" }, "HP:0025405": { "name": [ "visual fixation instability", "visual fixation instability" ], "alt_id": [], "def": "A deficit in the ability to fixate eye movements in order to stabilize images on the retina", "synonym": [ [ "instability of ocular fixation", "instability of ocular fixation" ] ], "xref": [], "is_a": [ "HP:0025404" ], "is_obsolete": "", "replace_id": "" }, "HP:0025406": { "name": [ "asthenia", "asthenia" ], "alt_id": [], "def": "A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.", "synonym": [ [ "lack of energy and strength", "lack of energy and strength" ], [ "weakness", "weakness" ] ], "xref": [], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0025407": { "name": [ "rectourethral fistula", "rectourethral fistula" ], "alt_id": [], "def": "An abnormal connection (fistula) between the rectum and the urethra.", "synonym": [ [ "urethrorectal fistula", "urethrorectal fistula" ] ], "xref": [], "is_a": [ "HP:0010480", "HP:0100590" ], "is_obsolete": "", "replace_id": "" }, "HP:0025408": { "name": [ "abnormal spleen morphology", "abnormal spleen morphology" ], "alt_id": [], "def": "Any anomaly of the structure of the spleen.", "synonym": [ [ "splenic lesion", "splenic lesion" ] ], "xref": [], "is_a": [ "HP:0001743" ], "is_obsolete": "", "replace_id": "" }, "HP:0025409": { "name": [ "abnormal spleen physiology", "abnormal spleen physiology" ], "alt_id": [], "def": "Any anomaly of the function of the spleen.", "synonym": [], "xref": [], "is_a": [ "HP:0001743" ], "is_obsolete": "", "replace_id": "" }, "HP:0025410": { "name": [ "splenogonadal fusion", "splenogonadal fusion" ], "alt_id": [], "def": "Joining of the spleen and a gonad during embryological development.", "synonym": [], "xref": [], "is_a": [ "HP:0000812", "HP:0025408" ], "is_obsolete": "", "replace_id": "" }, "HP:0025413": { "name": [ "fossa navicularis urethral stricture", "fossa navicularis urethral stricture" ], "alt_id": [], "def": "A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis.", "synonym": [], "xref": [], "is_a": [ "HP:0012227" ], "is_obsolete": "", "replace_id": "" }, "HP:0025414": { "name": [ "pendulous urethral stricture", "pendulous urethral stricture" ], "alt_id": [], "def": "A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa.", "synonym": [], "xref": [], "is_a": [ "HP:0012227" ], "is_obsolete": "", "replace_id": "" }, "HP:0025415": { "name": [ "bulbar urethral stricture", "bulbar urethral stricture" ], "alt_id": [], "def": "A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis.", "synonym": [], "xref": [], "is_a": [ "HP:0012227" ], "is_obsolete": "", "replace_id": "" }, "HP:0025416": { "name": [ "vaginal stricture", "vaginal stricture" ], "alt_id": [], "def": "A narrowing of the vagina owing to scar formation.", "synonym": [], "xref": [], "is_a": [ "HP:0000142" ], "is_obsolete": "", "replace_id": "" }, "HP:0025417": { "name": [ "patulous urethra", "patulous urethra" ], "alt_id": [], "def": "Urethra more open or expanded than normal.", "synonym": [], "xref": [], "is_a": [ "HP:0000795" ], "is_obsolete": "", "replace_id": "" }, "HP:0025418": { "name": [ "renal cortical necrosis", "renal cortical necrosis" ], "alt_id": [], "def": "Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct.", "synonym": [ [ "necrosis of the kidney cortex", "necrosis of the kidney cortex" ] ], "xref": [], "is_a": [ "HP:0011035", "HP:0032618" ], "is_obsolete": "", "replace_id": "" }, "HP:0025419": { "name": [ "pulmonary pneumatocele", "pulmonary pneumatocele" ], "alt_id": [], "def": "A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung.", "synonym": [ [ "pulmonary pneumatocoele", "pulmonary pneumatocoele" ] ], "xref": [], "is_a": [ "HP:0032445" ], "is_obsolete": "", "replace_id": "" }, "HP:0025420": { "name": [ "diffuse alveolar hemorrhage", "diffuse alveolar hemorrhage" ], "alt_id": [], "def": "A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.", "synonym": [ [ "diffuse alveolar haemorrhage", "diffuse alveolar haemorrhage" ] ], "xref": [], "is_a": [ "HP:0040223" ], "is_obsolete": "", "replace_id": "" }, "HP:0025421": { "name": [ "pneumomediastinum", "pneumomediastinum" ], "alt_id": [], "def": "The presence of free air in the mediastinum.", "synonym": [], "xref": [], "is_a": [ "HP:0045026" ], "is_obsolete": "", "replace_id": "" }, "HP:0025422": { "name": [ "pleural cyst", "pleural cyst" ], "alt_id": [], "def": "A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.", "synonym": [], "xref": [], "is_a": [ "HP:0002103" ], "is_obsolete": "", "replace_id": "" }, "HP:0025423": { "name": [ "abnormal larynx morphology", "abnormal larynx morphology" ], "alt_id": [], "def": "Any anomaly of the structure of the larynx.", "synonym": [], "xref": [], "is_a": [ "HP:0001600" ], "is_obsolete": "", "replace_id": "" }, "HP:0025424": { "name": [ "abnormal larynx physiology", "abnormal larynx physiology" ], "alt_id": [], "def": "Any anomaly of the function of the larynx.", "synonym": [], "xref": [], "is_a": [ "HP:0001600" ], "is_obsolete": "", "replace_id": "" }, "HP:0025425": { "name": [ "laryngospasm", "laryngospasm" ], "alt_id": [], "def": "A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.", "synonym": [], "xref": [], "is_a": [ "HP:0025424" ], "is_obsolete": "", "replace_id": "" }, "HP:0025426": { "name": [ "abnormal bronchus morphology", "abnormal bronchus morphology" ], "alt_id": [ "HP:0002109" ], "def": "Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.", "synonym": [ [ "abnormality of the bronchi", "abnormality of the bronchus" ] ], "xref": [], "is_a": [ "HP:0005607" ], "is_obsolete": "", "replace_id": "" }, "HP:0025427": { "name": [ "abnormal bronchus physiology", "abnormal bronchus physiology" ], "alt_id": [], "def": "Any anomaly of the function of the bronchi.", "synonym": [], "xref": [], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0025428": { "name": [ "bronchospasm", "bronchospasm" ], "alt_id": [], "def": "A spasm (sudden, involuntary constriction) of the bronchioles.", "synonym": [], "xref": [], "is_a": [ "HP:0025427" ], "is_obsolete": "", "replace_id": "" }, "HP:0025429": { "name": [ "abnormal cry", "abnormal cry" ], "alt_id": [], "def": "Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation.", "synonym": [], "xref": [], "is_a": [ "HP:0001608" ], "is_obsolete": "", "replace_id": "" }, "HP:0025430": { "name": [ "high - pitched cry", "high - pitch cry" ], "alt_id": [], "def": "A type of crying in an abnormally high-pitched voice.", "synonym": [], "xref": [], "is_a": [ "HP:0025429" ], "is_obsolete": "", "replace_id": "" }, "HP:0025431": { "name": [ "staccato cry", "staccato cry" ], "alt_id": [], "def": "A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations.", "synonym": [], "xref": [], "is_a": [ "HP:0025429" ], "is_obsolete": "", "replace_id": "" }, "HP:0025432": { "name": [ "acanthoma", "acanthoma" ], "alt_id": [], "def": "A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm.", "synonym": [], "xref": [], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0025433": { "name": [ "decreased lecithin cholesterol acyl transferase level", "decrease lecithin cholesterol acyl transferase level" ], "alt_id": [], "def": "Reduced level of the enzyme lecithin cholesterol acyl transferase.", "synonym": [], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0025434": { "name": [ "reduced hemolytic complement activity", "reduce hemolytic complement activity" ], "alt_id": [], "def": "A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.", "synonym": [ [ "reduced ch50", "reduce ch50" ] ], "xref": [], "is_a": [ "HP:0005339" ], "is_obsolete": "", "replace_id": "" }, "HP:0025435": { "name": [ "increased circulating lactate dehydrogenase concentration", "increase circulate lactate dehydrogenase concentration" ], "alt_id": [], "def": "An elevated level of the enzyme lactate dehydrogenase in the blood circulation.", "synonym": [ [ "increased lactate dehydrogenase level", "increase lactate dehydrogenase level" ] ], "xref": [], "is_a": [ "HP:0045040" ], "is_obsolete": "", "replace_id": "" }, "HP:0025436": { "name": [ "elevated serum 11 - deoxycortisol", "elevate serum 11 - deoxycortisol" ], "alt_id": [], "def": "Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone.", "synonym": [ [ "elevated serum 21 - hydroxyprogesterone", "elevate serum 21 - hydroxyprogesterone" ], [ "elevated serum deoxycorticosterone", "elevate serum deoxycorticosterone" ] ], "xref": [], "is_a": [ "HP:0003118" ], "is_obsolete": "", "replace_id": "" }, "HP:0025437": { "name": [ "macrocephalic sperm head", "macrocephalic sperm head" ], "alt_id": [], "def": "Increased size of the head of sperm.", "synonym": [], "xref": [], "is_a": [ "HP:0012865" ], "is_obsolete": "", "replace_id": "" }, "HP:0025439": { "name": [ "pharyngitis", "pharyngitis" ], "alt_id": [], "def": "Inflammation (due to infection or irritation) of the pharynx.", "synonym": [], "xref": [], "is_a": [ "HP:0033151" ], "is_obsolete": "", "replace_id": "" }, "HP:0025440": { "name": [ "warm reactive autoantibody positivity", "warm reactive autoantibody positivity" ], "alt_id": [], "def": "Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0025441": { "name": [ "achilles tendon calcification", "achilles tendon calcification" ], "alt_id": [], "def": "Ectopic deposition of calcium salts in the Achilles tendon.", "synonym": [ [ "calcification of the achilles tendon", "calcification of the achilles tendon" ] ], "xref": [], "is_a": [ "HP:0005109" ], "is_obsolete": "", "replace_id": "" }, "HP:0025443": { "name": [ "abnormal cardiac atrial physiology", "abnormal cardiac atrial physiology" ], "alt_id": [], "def": "An abnormality of the function of the cardiac atria.", "synonym": [], "xref": [], "is_a": [ "HP:0011025" ], "is_obsolete": "", "replace_id": "" }, "HP:0025444": { "name": [ "reduced amygdala volume", "reduce amygdala volume" ], "alt_id": [], "def": "A decrease in the volume (size) of the amygdyla.", "synonym": [ [ "decrease in amygdala volume", "decrease in amygdala volume" ] ], "xref": [], "is_a": [ "HP:0033668" ], "is_obsolete": "", "replace_id": "" }, "HP:0025445": { "name": [ "morphological abnormality of the papillary muscles", "morphological abnormality of the papillary muscle" ], "alt_id": [], "def": "Any structural anomaly of the papillary muscles of the left ventricle.", "synonym": [], "xref": [], "is_a": [ "HP:0001711" ], "is_obsolete": "", "replace_id": "" }, "HP:0025446": { "name": [ "anomalous insertion of papillary muscle directly into anterior mitral leaflet", "anomalous insertion of papillary muscle directly into anterior mitral leaflet" ], "alt_id": [], "def": "A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet.", "synonym": [], "xref": [], "is_a": [ "HP:0025445" ], "is_obsolete": "", "replace_id": "" }, "HP:0025447": { "name": [ "displacement of the papillary muscles", "displacement of the papillary muscle" ], "alt_id": [], "def": "Abnormal location of the insertion of a papillary muscle into the left ventricular wall.", "synonym": [], "xref": [], "is_a": [ "HP:0025445" ], "is_obsolete": "", "replace_id": "" }, "HP:0025448": { "name": [ "anterior displacement of the papillary muscles", "anterior displacement of the papillary muscle" ], "alt_id": [], "def": "Abnormally anterior location of the papillary muscles of the left ventricle.", "synonym": [ [ "anteriorly displaced papillary muscles", "anteriorly displace papillary muscle" ] ], "xref": [], "is_a": [ "HP:0025447" ], "is_obsolete": "", "replace_id": "" }, "HP:0025449": { "name": [ "apically displaced anterolateral papillary muscle", "apically displaced anterolateral papillary muscle" ], "alt_id": [], "def": "Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view,", "synonym": [ [ "apically displaced papillary muscles", "apically displace papillary muscle" ] ], "xref": [], "is_a": [ "HP:0025447" ], "is_obsolete": "", "replace_id": "" }, "HP:0025451": { "name": [ "testicular adrenal rest tumor", "testicular adrenal rest tumor" ], "alt_id": [], "def": "Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.", "synonym": [ [ "testicular adrenal rest tumour", "testicular adrenal rest tumour" ] ], "xref": [], "is_a": [ "HP:0010788" ], "is_obsolete": "", "replace_id": "" }, "HP:0025452": { "name": [ "pyoderma gangrenosum", "pyoderma gangrenosum" ], "alt_id": [], "def": "A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer.", "synonym": [], "xref": [], "is_a": [ "HP:0200042" ], "is_obsolete": "", "replace_id": "" }, "HP:0025453": { "name": [ "delayed adrenarche", "delay adrenarche" ], "alt_id": [], "def": "Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development.", "synonym": [], "xref": [], "is_a": [ "HP:0000823" ], "is_obsolete": "", "replace_id": "" }, "HP:0025454": { "name": [ "abnormal csf metabolite level", "abnormal csf metabolite level" ], "alt_id": [], "def": "Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.", "synonym": [], "xref": [], "is_a": [ "HP:0002921" ], "is_obsolete": "", "replace_id": "" }, "HP:0025455": { "name": [ "decreased csf 5 - hydroxyindolacetic acid", "decrease csf 5 - hydroxyindolacetic acid" ], "alt_id": [], "def": "CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal.", "synonym": [ [ "decreased csf 5 - hiaa", "decrease csf 5 - hiaa" ], [ "low csf 5 - hiaa", "low csf 5 - hiaa" ], [ "low csf 5 - hydroxyindolacetic acid", "low csf 5 - hydroxyindolacetic acid" ] ], "xref": [], "is_a": [ "HP:0025454" ], "is_obsolete": "", "replace_id": "" }, "HP:0025456": { "name": [ "abnormal csf protein level", "abnormal csf protein level" ], "alt_id": [], "def": "Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.", "synonym": [], "xref": [], "is_a": [ "HP:0002921" ], "is_obsolete": "", "replace_id": "" }, "HP:0025457": { "name": [ "decreased csf protein", "decrease csf protein" ], "alt_id": [], "def": "CSF total protein level is below the lower limit of normal.", "synonym": [ [ "decreased cerebrospinal fluid total protein", "decrease cerebrospinal fluid total protein" ], [ "hypoproteinorrhachia", "hypoproteinorrhachia" ], [ "low csf total protein", "low csf total protein" ] ], "xref": [], "is_a": [ "HP:0025456" ], "is_obsolete": "", "replace_id": "" }, "HP:0025458": { "name": [ "decreased csf albumin concentration", "decrease csf albumin concentration" ], "alt_id": [], "def": "CSF albumin level is below the lower limit of normal.", "synonym": [ [ "low csf albumin", "low csf albumin" ] ], "xref": [], "is_a": [ "HP:0500238" ], "is_obsolete": "", "replace_id": "" }, "HP:0025459": { "name": [ "increased csf / serum albumin ratio", "increase csf / serum albumin ratio" ], "alt_id": [], "def": "An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.", "synonym": [], "xref": [], "is_a": [ "HP:0030981" ], "is_obsolete": "", "replace_id": "" }, "HP:0025460": { "name": [ "high myoinositol in brain by mrs", "high myoinositol in brain by mr" ], "alt_id": [], "def": "An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS).", "synonym": [ [ "high myo - inositol in brain by mrs", "high myo - inositol in brain by mr" ] ], "xref": [], "is_a": [ "HP:0012705" ], "is_obsolete": "", "replace_id": "" }, "HP:0025461": { "name": [ "abnormal cell morphology", "abnormal cell morphology" ], "alt_id": [], "def": "Any anomaly of cell structure.", "synonym": [], "xref": [], "is_a": [ "HP:0025354" ], "is_obsolete": "", "replace_id": "" }, "HP:0025462": { "name": [ "obsolete abnormal cellular physiology", "obsolete abnormal cellular physiology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0011017" }, "HP:0025463": { "name": [ "abnormality of redox activity", "abnormality of redox activity" ], "alt_id": [], "def": "An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions.", "synonym": [], "xref": [], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:0025464": { "name": [ "increased reactive oxygen species production", "increase reactive oxygen specie production" ], "alt_id": [], "def": "An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage.", "synonym": [ [ "increased ros production", "increase ro production" ], [ "oxidative stress", "oxidative stress" ] ], "xref": [], "is_a": [ "HP:0025463" ], "is_obsolete": "", "replace_id": "" }, "HP:0025465": { "name": [ "abnormal circulating beta globulin level", "abnormal circulate beta globulin level" ], "alt_id": [], "def": "A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood.", "synonym": [], "xref": [], "is_a": [ "HP:0032179" ], "is_obsolete": "", "replace_id": "" }, "HP:0025466": { "name": [ "beta 2 - microglobulinuria", "beta 2 - microglobulinuria" ], "alt_id": [], "def": "Increased level of beta 2-microglobulins in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0020129" ], "is_obsolete": "", "replace_id": "" }, "HP:0025469": { "name": [ "anagen effluvium", "anagen effluvium" ], "alt_id": [], "def": "An abnormal loss of anagen (growth phase) hairs.", "synonym": [], "xref": [], "is_a": [ "HP:0011362" ], "is_obsolete": "", "replace_id": "" }, "HP:0025470": { "name": [ "telogen effluvium", "telogen effluvium" ], "alt_id": [], "def": "A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles.", "synonym": [], "xref": [], "is_a": [ "HP:0011362" ], "is_obsolete": "", "replace_id": "" }, "HP:0025471": { "name": [ "congenital panfollicular nevus", "congenital panfollicular nevus" ], "alt_id": [], "def": "A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation.", "synonym": [], "xref": [], "is_a": [ "HP:0003764" ], "is_obsolete": "", "replace_id": "" }, "HP:0025472": { "name": [ "recurrent plantar mycosis", "recurrent plantar mycosis" ], "alt_id": [], "def": "A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching.", "synonym": [], "xref": [], "is_a": [ "HP:0002841" ], "is_obsolete": "", "replace_id": "" }, "HP:0025473": { "name": [ "hyperpigmented papule", "hyperpigmented papule" ], "alt_id": [], "def": "A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.", "synonym": [], "xref": [], "is_a": [ "HP:0200034" ], "is_obsolete": "", "replace_id": "" }, "HP:0025474": { "name": [ "erythematous plaque", "erythematous plaque" ], "alt_id": [], "def": "A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.", "synonym": [ [ "violaceous plaque", "violaceous plaque" ] ], "xref": [], "is_a": [ "HP:0200035" ], "is_obsolete": "", "replace_id": "" }, "HP:0025475": { "name": [ "erythematous macule", "erythematous macule" ], "alt_id": [], "def": "A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation.", "synonym": [], "xref": [], "is_a": [ "HP:0012733" ], "is_obsolete": "", "replace_id": "" }, "HP:0025476": { "name": [ "testicular lipomatosis", "testicular lipomatosis" ], "alt_id": [], "def": "Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm.", "synonym": [], "xref": [], "is_a": [ "HP:0000035", "HP:0001012" ], "is_obsolete": "", "replace_id": "" }, "HP:0025477": { "name": [ "periarticular calcification", "periarticular calcification" ], "alt_id": [], "def": "Calcified deposits in soft tissue structures outside a joint.", "synonym": [], "xref": [], "is_a": [ "HP:0010766" ], "is_obsolete": "", "replace_id": "" }, "HP:0025478": { "name": [ "atrial standstill", "atrial standstill" ], "alt_id": [], "def": "Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram.", "synonym": [ [ "silent atrium", "silent atrium" ] ], "xref": [], "is_a": [ "HP:0005115" ], "is_obsolete": "", "replace_id": "" }, "HP:0025479": { "name": [ "self - neglect", "self - neglect" ], "alt_id": [], "def": "Neglecting one's own needs and well-being.", "synonym": [], "xref": [], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0025480": { "name": [ "lipomyelomeningocele", "lipomyelomeningocele" ], "alt_id": [], "def": "A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft.", "synonym": [], "xref": [], "is_a": [ "HP:0002475" ], "is_obsolete": "", "replace_id": "" }, "HP:0025481": { "name": [ "cervical hemivertebrae", "cervical hemivertebrae" ], "alt_id": [], "def": "Absence of one half of the vertebral body in the cervical spine.", "synonym": [], "xref": [], "is_a": [ "HP:0002937" ], "is_obsolete": "", "replace_id": "" }, "HP:0025482": { "name": [ "positive perchlorate discharge test", "positive perchlorate discharge test" ], "alt_id": [], "def": "An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid.", "synonym": [], "xref": [], "is_a": [ "HP:0002926" ], "is_obsolete": "", "replace_id": "" }, "HP:0025483": { "name": [ "abnormal circulating thyroglobulin level", "abnormal circulate thyroglobulin level" ], "alt_id": [], "def": "A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0025484": { "name": [ "increased circulating thyroglobulin level", "increase circulate thyroglobulin level" ], "alt_id": [], "def": "An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.", "synonym": [], "xref": [], "is_a": [ "HP:0025483" ], "is_obsolete": "", "replace_id": "" }, "HP:0025485": { "name": [ "vaginal adenosis", "vaginal adenosis" ], "alt_id": [], "def": "Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent M\u00fcllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.", "synonym": [], "xref": [], "is_a": [ "HP:0000142" ], "is_obsolete": "", "replace_id": "" }, "HP:0025486": { "name": [ "fused labia majora", "fuse labium majora" ], "alt_id": [], "def": "The outer labia are sealed together.", "synonym": [], "xref": [], "is_a": [ "HP:0012881" ], "is_obsolete": "", "replace_id": "" }, "HP:0025487": { "name": [ "abnormality of bladder morphology", "abnormality of bladder morphology" ], "alt_id": [], "def": "Any structural anomaly of the bladder.", "synonym": [], "xref": [], "is_a": [ "HP:0000014" ], "is_obsolete": "", "replace_id": "" }, "HP:0025488": { "name": [ "detrusor sphincter dyssynergia", "detrusor sphincter dyssynergia" ], "alt_id": [], "def": "A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation.", "synonym": [], "xref": [], "is_a": [ "HP:0000009" ], "is_obsolete": "", "replace_id": "" }, "HP:0025489": { "name": [ "bladder duplication", "bladder duplication" ], "alt_id": [], "def": "A congenital anomaly characterized by the presence of two bladders.", "synonym": [], "xref": [], "is_a": [ "HP:0025487" ], "is_obsolete": "", "replace_id": "" }, "HP:0025490": { "name": [ "myocardial bridging", "myocardial bridging" ], "alt_id": [], "def": "A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course.", "synonym": [ [ "intramyocardial coronary artery course", "intramyocardial coronary artery course" ] ], "xref": [], "is_a": [ "HP:0011686" ], "is_obsolete": "", "replace_id": "" }, "HP:0025491": { "name": [ "venous stenosis", "venous stenosis" ], "alt_id": [], "def": "Narrowing of a vein due to intimal hyperplasia and fibrosis.", "synonym": [], "xref": [], "is_a": [ "HP:0002624" ], "is_obsolete": "", "replace_id": "" }, "HP:0025492": { "name": [ "microcoria", "microcoria" ], "alt_id": [], "def": "A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs.", "synonym": [], "xref": [], "is_a": [ "HP:0000615", "HP:0007700" ], "is_obsolete": "", "replace_id": "" }, "HP:0025493": { "name": [ "palmoplantar erythema", "palmoplantar erythema" ], "alt_id": [], "def": "Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.", "synonym": [], "xref": [], "is_a": [ "HP:0010783" ], "is_obsolete": "", "replace_id": "" }, "HP:0025494": { "name": [ "coated aorta", "coat aorta" ], "alt_id": [], "def": "Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans", "synonym": [], "xref": [], "is_a": [ "HP:0001679" ], "is_obsolete": "", "replace_id": "" }, "HP:0025495": { "name": [ "descending aorta hypoplasia", "descend aorta hypoplasia" ], "alt_id": [], "def": "Significant luminal narrowing of a long segment of the descending aorta.", "synonym": [], "xref": [], "is_a": [ "HP:0031934" ], "is_obsolete": "", "replace_id": "" }, "HP:0025496": { "name": [ "abnormal coronary artery physiology", "abnormal coronary artery physiology" ], "alt_id": [], "def": "Any anomaly of the function of a coronary artery.", "synonym": [], "xref": [], "is_a": [ "HP:0025323" ], "is_obsolete": "", "replace_id": "" }, "HP:0025497": { "name": [ "coronary artery spasm", "coronary artery spasm" ], "alt_id": [], "def": "A brief and sudden narrowing of a coronary artery.", "synonym": [ [ "coronary artery vasospasm", "coronary artery vasospasm" ] ], "xref": [], "is_a": [ "HP:0025496" ], "is_obsolete": "", "replace_id": "" }, "HP:0025498": { "name": [ "aceruloplasminemia", "aceruloplasminemia" ], "alt_id": [], "def": "Absence of ceruloplasmin in the blood.", "synonym": [ [ "aceruloplasminaemia", "aceruloplasminaemia" ] ], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0025499": { "name": [ "class i obesity", "class i obesity" ], "alt_id": [], "def": "Obesity with a body mass index of 30 to 34.9 kg per square meter.", "synonym": [ [ "obesity grade 1", "obesity grade 1" ] ], "xref": [], "is_a": [ "HP:0001513" ], "is_obsolete": "", "replace_id": "" }, "HP:0025500": { "name": [ "class ii obesity", "class ii obesity" ], "alt_id": [], "def": "Obesity with a body mass index of 35 to 39.9 kg per square meter.", "synonym": [ [ "obesity grade 2", "obesity grade 2" ] ], "xref": [], "is_a": [ "HP:0001513" ], "is_obsolete": "", "replace_id": "" }, "HP:0025501": { "name": [ "class iii obesity", "class iii obesity" ], "alt_id": [], "def": "Obesity with a body mass index of 40 kg per square meter or higher.", "synonym": [ [ "obesity grade 3", "obesity grade 3" ] ], "xref": [], "is_a": [ "HP:0001513" ], "is_obsolete": "", "replace_id": "" }, "HP:0025502": { "name": [ "overweight", "overweight" ], "alt_id": [], "def": "Increased body weight with a body mass index of 25-29.9 kg per square meter.", "synonym": [], "xref": [], "is_a": [ "HP:0004324" ], "is_obsolete": "", "replace_id": "" }, "HP:0025503": { "name": [ "anomalous coronary artery arising from the opposite sinus", "anomalous coronary artery arise from the opposite sinus" ], "alt_id": [], "def": "Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva.", "synonym": [], "xref": [], "is_a": [ "HP:0011636" ], "is_obsolete": "", "replace_id": "" }, "HP:0025505": { "name": [ "anomalous origin of the circumflex artery from the right sinus of valsalva", "anomalous origin of the circumflex artery from the right sinus of valsalva" ], "alt_id": [], "def": "The circumflex coronary artery originates from the right aortic sinus of Valsalva.", "synonym": [], "xref": [], "is_a": [ "HP:0011636" ], "is_obsolete": "", "replace_id": "" }, "HP:0025506": { "name": [ "coronary artery sandwich anomaly", "coronary artery sandwich anomaly" ], "alt_id": [], "def": "Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels,", "synonym": [ [ "anomalous coronary artery with aortic origin and course between the great arteries", "anomalous coronary artery with aortic origin and course between the great artery" ] ], "xref": [], "is_a": [ "HP:0025503" ], "is_obsolete": "", "replace_id": "" }, "HP:0025507": { "name": [ "yellow papule", "yellow papule" ], "alt_id": [], "def": "A papule with yellow color.", "synonym": [ [ "yellow - orange papule", "yellow - orange papule" ] ], "xref": [], "is_a": [ "HP:0200034" ], "is_obsolete": "", "replace_id": "" }, "HP:0025508": { "name": [ "gottron 's papules", "gottron 's papule" ], "alt_id": [], "def": "Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints.", "synonym": [ [ "gottron papules", "gottron papule" ] ], "xref": [], "is_a": [ "HP:0200034" ], "is_obsolete": "", "replace_id": "" }, "HP:0025509": { "name": [ "piezogenic pedal papules", "piezogenic pedal papule" ], "alt_id": [], "def": "Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum.", "synonym": [], "xref": [], "is_a": [ "HP:0200034" ], "is_obsolete": "", "replace_id": "" }, "HP:0025510": { "name": [ "nevus spilus", "nevus spilus" ], "alt_id": [], "def": "A tan, regularly bordered patch with darker macules within the lesion.", "synonym": [ [ "speckled lentiginous nevus", "speckle lentiginous nevus" ] ], "xref": [], "is_a": [ "HP:0003764" ], "is_obsolete": "", "replace_id": "" }, "HP:0025511": { "name": [ "nevus sebaceus", "nevus sebaceus" ], "alt_id": [], "def": "A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood.", "synonym": [], "xref": [], "is_a": [ "HP:0003764" ], "is_obsolete": "", "replace_id": "" }, "HP:0025512": { "name": [ "skin - colored papule", "skin - color papule" ], "alt_id": [], "def": "A papule with the same color as the surrounding skin.", "synonym": [ [ "flesh - colored papule", "flesh - color papule" ] ], "xref": [], "is_a": [ "HP:0200034" ], "is_obsolete": "", "replace_id": "" }, "HP:0025513": { "name": [ "scleral rupture", "scleral rupture" ], "alt_id": [], "def": "Breakage of the sclera.", "synonym": [], "xref": [], "is_a": [ "HP:0000591" ], "is_obsolete": "", "replace_id": "" }, "HP:0025514": { "name": [ "morning glory anomaly", "morning glory anomaly" ], "alt_id": [], "def": "An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic.", "synonym": [ [ "morning glory disc anomaly", "morning glory disc anomaly" ], [ "morning glory optic disc", "morning glory optic disc" ] ], "xref": [], "is_a": [ "HP:0000587" ], "is_obsolete": "", "replace_id": "" }, "HP:0025515": { "name": [ "delayed thelarche", "delay thelarche" ], "alt_id": [], "def": "Later than normal development of the breasts.", "synonym": [], "xref": [], "is_a": [ "HP:0000823" ], "is_obsolete": "", "replace_id": "" }, "HP:0025516": { "name": [ "coronary - pulmonary artery fistula", "coronary - pulmonary artery fistula" ], "alt_id": [], "def": "A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery.", "synonym": [], "xref": [], "is_a": [ "HP:0011641" ], "is_obsolete": "", "replace_id": "" }, "HP:0025517": { "name": [ "hypoplastic hippocampus", "hypoplastic hippocampus" ], "alt_id": [], "def": "Underdevelopment of the hippocampus.", "synonym": [ [ "small hippocampus", "small hippocampus" ], [ "underdeveloped hippocampus", "underdeveloped hippocampus" ] ], "xref": [], "is_a": [ "HP:0025100" ], "is_obsolete": "", "replace_id": "" }, "HP:0025518": { "name": [ "visual gaze preference", "visual gaze preference" ], "alt_id": [], "def": "An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion.", "synonym": [], "xref": [], "is_a": [ "HP:0000496" ], "is_obsolete": "", "replace_id": "" }, "HP:0025519": { "name": [ "multiple biliary hamartomas", "multiple biliary hamartoma" ], "alt_id": [], "def": "Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver.", "synonym": [ [ "biliary hamartoma", "biliary hamartoma" ], [ "multiple bile duct hamartomas", "multiple bile duct hamartoma" ], [ "von meyenburg complexes", "von meyenburg complex" ] ], "xref": [], "is_a": [ "HP:0100574" ], "is_obsolete": "", "replace_id": "" }, "HP:0025520": { "name": [ "calcinosis cutis", "calcinosis cutis" ], "alt_id": [], "def": "Deposition of calcium in the skin.", "synonym": [ [ "cutaneous calcification", "cutaneous calcification" ] ], "xref": [], "is_a": [ "HP:0010766" ], "is_obsolete": "", "replace_id": "" }, "HP:0025521": { "name": [ "increased body fat percentage", "increase body fat percentage" ], "alt_id": [], "def": "The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males.", "synonym": [], "xref": [], "is_a": [ "HP:0001507" ], "is_obsolete": "", "replace_id": "" }, "HP:0025522": { "name": [ "elongated chordae tendinae of the mitral valve", "elongate chordae tendinae of the mitral valve" ], "alt_id": [], "def": "Abnormal increased in length of the chordae tendinae of the mitral valve.", "synonym": [], "xref": [], "is_a": [ "HP:0025523" ], "is_obsolete": "", "replace_id": "" }, "HP:0025523": { "name": [ "abnormal morphology of the chordae tendinae of the mitral valve", "abnormal morphology of the chordae tendinae of the mitral valve" ], "alt_id": [], "def": "A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve.", "synonym": [], "xref": [], "is_a": [ "HP:0001633" ], "is_obsolete": "", "replace_id": "" }, "HP:0025524": { "name": [ "palmoplantar scaling skin", "palmoplantar scale skin" ], "alt_id": [], "def": "Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.", "synonym": [ [ "palmoplantar psoriasis", "palmoplantar psoriasis" ] ], "xref": [], "is_a": [ "HP:0040189" ], "is_obsolete": "", "replace_id": "" }, "HP:0025525": { "name": [ "scaling skin on fingertip", "scale skin on fingertip" ], "alt_id": [], "def": "Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.", "synonym": [], "xref": [], "is_a": [ "HP:0040189" ], "is_obsolete": "", "replace_id": "" }, "HP:0025526": { "name": [ "psoriasiform lesion", "psoriasiform lesion" ], "alt_id": [], "def": "A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.", "synonym": [ [ "erythemato - squamous plaque", "erythemato - squamous plaque" ], [ "erythematosquamous plaque", "erythematosquamous plaque" ], [ "psoriatic - like lesion", "psoriatic - like lesion" ] ], "xref": [], "is_a": [ "HP:0040189" ], "is_obsolete": "", "replace_id": "" }, "HP:0025527": { "name": [ "serpiginous cutaneous lesion", "serpiginous cutaneous lesion" ], "alt_id": [], "def": "A skin lesion with a snake- or serpent-like distribution.", "synonym": [ [ "serpiginous eruption", "serpiginous eruption" ] ], "xref": [], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0025528": { "name": [ "annular cutaneous lesion", "annular cutaneous lesion" ], "alt_id": [], "def": "A lesion of the skin with a ring-like distribution.", "synonym": [], "xref": [], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0025529": { "name": [ "hyperpigmented nodule", "hyperpigmented nodule" ], "alt_id": [], "def": "A nodule of the skin that exhibits an increased amount of pigmentation.", "synonym": [], "xref": [], "is_a": [ "HP:0200036" ], "is_obsolete": "", "replace_id": "" }, "HP:0025530": { "name": [ "xanthomas of the palmar creases", "xanthoma of the palmar crease" ], "alt_id": [], "def": "The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.", "synonym": [ [ "xanthoma palmare striatum", "xanthoma palmare striatum" ], [ "xanthoma striatum palmare", "xanthoma striatum palmare" ] ], "xref": [], "is_a": [ "HP:0000991" ], "is_obsolete": "", "replace_id": "" }, "HP:0025531": { "name": [ "harlequin phenomenon", "harlequin phenomenon" ], "alt_id": [], "def": "The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body.", "synonym": [], "xref": [], "is_a": [ "HP:0011122" ], "is_obsolete": "", "replace_id": "" }, "HP:0025532": { "name": [ "positive pathergy test", "positive pathergy test" ], "alt_id": [], "def": "With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result.", "synonym": [], "xref": [], "is_a": [ "HP:0011122" ], "is_obsolete": "", "replace_id": "" }, "HP:0025533": { "name": [ "peau d'orange", "peau d'orange" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0000969" ], "is_obsolete": "", "replace_id": "" }, "HP:0025534": { "name": [ "ocular melanocytosis", "ocular melanocytosis" ], "alt_id": [], "def": "A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared.", "synonym": [ [ "melanosis oculi", "melanosis oculus" ], [ "ocular melanosis", "ocular melanosis" ] ], "xref": [], "is_a": [ "HP:0000591" ], "is_obsolete": "", "replace_id": "" }, "HP:0025535": { "name": [ "shawl sign", "shawl sign" ], "alt_id": [], "def": "Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back.", "synonym": [], "xref": [], "is_a": [ "HP:0010783" ], "is_obsolete": "", "replace_id": "" }, "HP:0025536": { "name": [ "v - sign", "v - sign" ], "alt_id": [], "def": "Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest.", "synonym": [], "xref": [], "is_a": [ "HP:0010783" ], "is_obsolete": "", "replace_id": "" }, "HP:0025537": { "name": [ "plantar edema", "plantar edema" ], "alt_id": [], "def": "An abnormal accumulation of fluid beneath the skin on sole of the foot.", "synonym": [ [ "plantar oedema", "plantar oedema" ] ], "xref": [], "is_a": [ "HP:0100872" ], "is_obsolete": "", "replace_id": "" }, "HP:0025538": { "name": [ "palmar edema", "palmar edema" ], "alt_id": [], "def": "An abnormal accumulation of fluid beneath the skin on the palm of the hand.", "synonym": [ [ "palmar oedema", "palmar oedema" ] ], "xref": [], "is_a": [ "HP:0040211" ], "is_obsolete": "", "replace_id": "" }, "HP:0025539": { "name": [ "abnormal b cell subset distribution", "abnormal b cell subset distribution" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0010975" ], "is_obsolete": "", "replace_id": "" }, "HP:0025540": { "name": [ "abnormal t cell subset distribution", "abnormal t cell subset distribution" ], "alt_id": [], "def": "Any abnormality in the proportion T cells subsets relative to the total number of T cells.", "synonym": [], "xref": [], "is_a": [ "HP:0011839" ], "is_obsolete": "", "replace_id": "" }, "HP:0025541": { "name": [ "obsolete decreased activity of complement receptor", "obsolete decrease activity of complement receptor" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0025546": { "name": [ "abnormal mean corpuscular hemoglobin concentration", "abnormal mean corpuscular hemoglobin concentration" ], "alt_id": [], "def": "A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.", "synonym": [ [ "abnormal mch", "abnormal mch" ], [ "abnormal mchc", "abnormal mchc" ], [ "abnormal mean corpuscular haemoglobin", "abnormal mean corpuscular haemoglobin" ], [ "abnormal mean corpuscular haemoglobin concentration", "abnormal mean corpuscular haemoglobin concentration" ], [ "abnormal mean corpuscular hb concentration", "abnormal mean corpuscular hb concentration" ] ], "xref": [], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0025547": { "name": [ "decreased mean corpuscular hemoglobin concentration", "decrease mean corpuscular hemoglobin concentration" ], "alt_id": [], "def": "A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.", "synonym": [ [ "decreased mch", "decrease mch" ], [ "decreased mchc", "decrease mchc" ], [ "decreased mean corpuscular haemoglobin", "decrease mean corpuscular haemoglobin" ], [ "decreased mean corpuscular haemoglobin concentration", "decrease mean corpuscular haemoglobin concentration" ], [ "decreased mean corpuscular hb concentration", "decrease mean corpuscular hb concentration" ] ], "xref": [], "is_a": [ "HP:0025546" ], "is_obsolete": "", "replace_id": "" }, "HP:0025548": { "name": [ "increased mean corpuscular hemoglobin concentration", "increase mean corpuscular hemoglobin concentration" ], "alt_id": [], "def": "An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).", "synonym": [ [ "increased mch", "increase mch" ], [ "increased mchc", "increase mchc" ], [ "increased mean corpuscular haemoglobin", "increase mean corpuscular haemoglobin" ], [ "increased mean corpuscular haemoglobin concentration", "increase mean corpuscular haemoglobin concentration" ], [ "increased mean corpuscular hb concentration", "increase mean corpuscular hb concentration" ] ], "xref": [], "is_a": [ "HP:0025546" ], "is_obsolete": "", "replace_id": "" }, "HP:0025549": { "name": [ "eccentric visual fixation", "eccentric visual fixation" ], "alt_id": [], "def": "A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.", "synonym": [ [ "eccentric fixation", "eccentric fixation" ] ], "xref": [], "is_a": [ "HP:0025404" ], "is_obsolete": "", "replace_id": "" }, "HP:0025550": { "name": [ "elevated circulating ribitol concentration", "elevate circulate ribitol concentration" ], "alt_id": [], "def": "An increase above the normal concentration of ribitol in the blood.", "synonym": [ [ "increased level of ribitol in serum", "increase level of ribitol in serum" ] ], "xref": [], "is_a": [ "HP:0011013" ], "is_obsolete": "", "replace_id": "" }, "HP:0025551": { "name": [ "optic nerve misrouting", "optic nerve misrouting" ], "alt_id": [], "def": "Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp).", "synonym": [ [ "optic pathway misrouting", "optic pathway misrouting" ], [ "visual pathway misrouting", "visual pathway misrouting" ] ], "xref": [], "is_a": [ "HP:0000587" ], "is_obsolete": "", "replace_id": "" }, "HP:0025552": { "name": [ "periorbital purpura", "periorbital purpura" ], "alt_id": [], "def": "Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding.", "synonym": [], "xref": [], "is_a": [ "HP:0000606" ], "is_obsolete": "", "replace_id": "" }, "HP:0025553": { "name": [ "periorbital ecchymosis with tarsal plate sparing", "periorbital ecchymosis with tarsal plate sparing" ], "alt_id": [], "def": "Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate.", "synonym": [ [ "raccoon eyes", "raccoon eye" ] ], "xref": [], "is_a": [ "HP:0000606" ], "is_obsolete": "", "replace_id": "" }, "HP:0025554": { "name": [ "yellow nodule", "yellow nodule" ], "alt_id": [], "def": "A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion).", "synonym": [], "xref": [], "is_a": [ "HP:0200036" ], "is_obsolete": "", "replace_id": "" }, "HP:0025555": { "name": [ "periungual teleangiectasia", "periungual teleangiectasia" ], "alt_id": [], "def": "Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails.", "synonym": [], "xref": [], "is_a": [ "HP:0100585" ], "is_obsolete": "", "replace_id": "" }, "HP:0025558": { "name": [ "lamellar cataract with riders", "lamellar cataract with rider" ], "alt_id": [], "def": "Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens.", "synonym": [], "xref": [], "is_a": [ "HP:0007971" ], "is_obsolete": "", "replace_id": "" }, "HP:0025559": { "name": [ "coronary cataract", "coronary cataract" ], "alt_id": [], "def": "A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown.", "synonym": [], "xref": [], "is_a": [ "HP:0010920" ], "is_obsolete": "", "replace_id": "" }, "HP:0025560": { "name": [ "anterior chamber cells", "anterior chamber cell" ], "alt_id": [], "def": "Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.", "synonym": [], "xref": [], "is_a": [ "HP:0000593" ], "is_obsolete": "", "replace_id": "" }, "HP:0025561": { "name": [ "anterior chamber cells grade 1+", "anterior chamber cell grade 1+" ], "alt_id": [], "def": "Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.", "synonym": [], "xref": [], "is_a": [ "HP:0025560" ], "is_obsolete": "", "replace_id": "" }, "HP:0025562": { "name": [ "anterior chamber cells grade 0.5+", "anterior chamber cell grade 0.5+" ], "alt_id": [], "def": "Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.", "synonym": [], "xref": [], "is_a": [ "HP:0025560" ], "is_obsolete": "", "replace_id": "" }, "HP:0025563": { "name": [ "anterior chamber cells grade 0", "anterior chamber cell grade 0" ], "alt_id": [], "def": "Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.", "synonym": [], "xref": [], "is_a": [ "HP:0025560" ], "is_obsolete": "", "replace_id": "" }, "HP:0025564": { "name": [ "anterior chamber cells grade 2+", "anterior chamber cell grade 2+" ], "alt_id": [], "def": "Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.", "synonym": [], "xref": [], "is_a": [ "HP:0025560" ], "is_obsolete": "", "replace_id": "" }, "HP:0025565": { "name": [ "anterior chamber cells grade 3+", "anterior chamber cell grade 3+" ], "alt_id": [], "def": "Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.", "synonym": [], "xref": [], "is_a": [ "HP:0025560" ], "is_obsolete": "", "replace_id": "" }, "HP:0025566": { "name": [ "anterior chamber cells grade 4+", "anterior chamber cell grade 4+" ], "alt_id": [], "def": "Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.", "synonym": [], "xref": [], "is_a": [ "HP:0025560" ], "is_obsolete": "", "replace_id": "" }, "HP:0025567": { "name": [ "central serous chorioretinopathy", "central serous chorioretinopathy" ], "alt_id": [], "def": "An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months.", "synonym": [], "xref": [], "is_a": [ "HP:0000532" ], "is_obsolete": "", "replace_id": "" }, "HP:0025568": { "name": [ "abnormal morphology of the choroidal vasculature", "abnormal morphology of the choroidal vasculature" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0000610" ], "is_obsolete": "", "replace_id": "" }, "HP:0025569": { "name": [ "polypoidal choroidal vasculopathy", "polypoidal choroidal vasculopathy" ], "alt_id": [], "def": "The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization.", "synonym": [], "xref": [], "is_a": [ "HP:0025568" ], "is_obsolete": "", "replace_id": "" }, "HP:0025570": { "name": [ "choroidal vascular hyperpermeability", "choroidal vascular hyperpermeability" ], "alt_id": [], "def": "Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA).", "synonym": [ [ "choroidal hyperpermeability", "choroidal hyperpermeability" ] ], "xref": [], "is_a": [ "HP:0025568" ], "is_obsolete": "", "replace_id": "" }, "HP:0025571": { "name": [ "christmas tree cataract", "christmas tree cataract" ], "alt_id": [], "def": "A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree.", "synonym": [], "xref": [], "is_a": [ "HP:0000518" ], "is_obsolete": "", "replace_id": "" }, "HP:0025572": { "name": [ "punctal stenosis", "punctal stenosis" ], "alt_id": [], "def": "Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded.", "synonym": [ [ "lacrimal punctum stenosis", "lacrimal punctum stenosis" ], [ "stenosis of the lacrimal punctum", "stenosis of the lacrimal punctum" ] ], "xref": [], "is_a": [ "HP:0011479" ], "is_obsolete": "", "replace_id": "" }, "HP:0025573": { "name": [ "mild myopia", "mild myopia" ], "alt_id": [], "def": "A mild form of myopia with up to -3.00 diopters.", "synonym": [], "xref": [], "is_a": [ "HP:0000545" ], "is_obsolete": "", "replace_id": "" }, "HP:0025574": { "name": [ "macular hemorrhage", "macular hemorrhage" ], "alt_id": [], "def": "Bleeding occurring within the macula lutea of the retina.", "synonym": [ [ "macular haemorrhage", "macular haemorrhage" ] ], "xref": [], "is_a": [ "HP:0000573", "HP:0001103" ], "is_obsolete": "", "replace_id": "" }, "HP:0025575": { "name": [ "abnormal superior vena cava morphology", "abnormal superior vena cava morphology" ], "alt_id": [], "def": "Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart.", "synonym": [], "xref": [ "Fyler:2820" ], "is_a": [ "HP:0005345" ], "is_obsolete": "", "replace_id": "" }, "HP:0025576": { "name": [ "abnormal inferior vena cava morphology", "abnormal inferior vena cava morphology" ], "alt_id": [], "def": "Any structural anomaly of the principal vein draining blood from the lower portion of the body.", "synonym": [], "xref": [ "Fyler:2810" ], "is_a": [ "HP:0005345" ], "is_obsolete": "", "replace_id": "" }, "HP:0025578": { "name": [ "aortic valve prolapse", "aortic valve prolapse" ], "alt_id": [], "def": "Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus.", "synonym": [], "xref": [ "Fyler:1452" ], "is_a": [ "HP:0001646" ], "is_obsolete": "", "replace_id": "" }, "HP:0025579": { "name": [ "abnormal left atrium morphology", "abnormal leave atrium morphology" ], "alt_id": [], "def": "Any structural abnormality of the left atrium.", "synonym": [], "xref": [ "Fyler:3010" ], "is_a": [ "HP:0005120" ], "is_obsolete": "", "replace_id": "" }, "HP:0025580": { "name": [ "abnormal right atrium morphology", "abnormal right atrium morphology" ], "alt_id": [], "def": "Any structural abnormality of the right atrium.", "synonym": [], "xref": [ "Fyler:1770" ], "is_a": [ "HP:0005120" ], "is_obsolete": "", "replace_id": "" }, "HP:0025581": { "name": [ "foveal hemorrhage", "foveal hemorrhage" ], "alt_id": [], "def": "Bleeding occurring within the fovea.", "synonym": [ [ "foveal haemorrhage", "foveal haemorrhage" ] ], "xref": [], "is_a": [ "HP:0025574" ], "is_obsolete": "", "replace_id": "" }, "HP:0025582": { "name": [ "submacular hemorrhage", "submacular hemorrhage" ], "alt_id": [], "def": "Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.", "synonym": [ [ "sub - macular haemorrhage", "sub - macular haemorrhage" ], [ "sub - macular hemorrhage", "sub - macular hemorrhage" ], [ "submacular haemorrhage", "submacular haemorrhage" ] ], "xref": [], "is_a": [ "HP:0025243", "HP:0025574" ], "is_obsolete": "", "replace_id": "" }, "HP:0025583": { "name": [ "tapetal - like fundal reflex", "tapetal - like fundal reflex" ], "alt_id": [], "def": "Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals.", "synonym": [], "xref": [], "is_a": [ "HP:0001098" ], "is_obsolete": "", "replace_id": "" }, "HP:0025584": { "name": [ "hypotropia", "hypotropia" ], "alt_id": [], "def": "A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open.", "synonym": [], "xref": [], "is_a": [ "HP:0025588", "HP:0032012" ], "is_obsolete": "", "replace_id": "" }, "HP:0025585": { "name": [ "hyperphoria", "hyperphoria" ], "alt_id": [], "def": "Tendency for the visual axis of one eye to be higher than that of the other.", "synonym": [], "xref": [], "is_a": [ "HP:0025587", "HP:0032011" ], "is_obsolete": "", "replace_id": "" }, "HP:0025586": { "name": [ "hypertropia", "hypertropia" ], "alt_id": [], "def": "A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.", "synonym": [], "xref": [], "is_a": [ "HP:0025587", "HP:0032012" ], "is_obsolete": "", "replace_id": "" }, "HP:0025587": { "name": [ "hyperdeviation", "hyperdeviation" ], "alt_id": [], "def": "A type of strabismus in which the visual axis of one eye is higher than that of the other.", "synonym": [], "xref": [], "is_a": [ "HP:0000486" ], "is_obsolete": "", "replace_id": "" }, "HP:0025588": { "name": [ "hypodeviation", "hypodeviation" ], "alt_id": [], "def": "A type of strabismus in which the visual axis of one eye is lower than that of the other.", "synonym": [], "xref": [], "is_a": [ "HP:0000486" ], "is_obsolete": "", "replace_id": "" }, "HP:0025589": { "name": [ "cyclodeviation", "cyclodeviation" ], "alt_id": [], "def": "Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes.", "synonym": [], "xref": [], "is_a": [ "HP:0000486" ], "is_obsolete": "", "replace_id": "" }, "HP:0025590": { "name": [ "abnormal extraocular muscle physiology", "abnormal extraocular muscle physiology" ], "alt_id": [], "def": "A functional anomaly of the muscles of the eye.", "synonym": [], "xref": [], "is_a": [ "HP:0012373" ], "is_obsolete": "", "replace_id": "" }, "HP:0025591": { "name": [ "abnormal superior oblique muscle physiology", "abnormal superior oblique muscle physiology" ], "alt_id": [], "def": "A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve.", "synonym": [], "xref": [], "is_a": [ "HP:0031739" ], "is_obsolete": "", "replace_id": "" }, "HP:0025592": { "name": [ "superior oblique muscle weakness", "superior oblique muscle weakness" ], "alt_id": [], "def": "Decreased strength of the superior oblique muscle.", "synonym": [ [ "superior oblique palsy", "superior oblique palsy" ] ], "xref": [], "is_a": [ "HP:0025591" ], "is_obsolete": "", "replace_id": "" }, "HP:0025593": { "name": [ "superior oblique muscle restriction", "superior oblique muscle restriction" ], "alt_id": [], "def": "Mechanical limitation of the range of movement of the superior oblique muscle.", "synonym": [], "xref": [], "is_a": [ "HP:0025592" ], "is_obsolete": "", "replace_id": "" }, "HP:0025594": { "name": [ "superior oblique muscle overaction", "superior oblique muscle overaction" ], "alt_id": [], "def": "An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye.", "synonym": [], "xref": [], "is_a": [ "HP:0025591" ], "is_obsolete": "", "replace_id": "" }, "HP:0025595": { "name": [ "superior oblique muscle underaction", "superior oblique muscle underaction" ], "alt_id": [], "def": "Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.", "synonym": [ [ "under - depression in adduction", "under - depression in adduction" ] ], "xref": [], "is_a": [ "HP:0025592" ], "is_obsolete": "", "replace_id": "" }, "HP:0025596": { "name": [ "abnormal inferior oblique muscle physiology", "abnormal inferior oblique muscle physiology" ], "alt_id": [], "def": "A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve.", "synonym": [], "xref": [], "is_a": [ "HP:0031739" ], "is_obsolete": "", "replace_id": "" }, "HP:0025597": { "name": [ "inferior oblique muscle restriction", "inferior oblique muscle restriction" ], "alt_id": [], "def": "Mechanical limitation of the range of movement of the inferior oblique muscle.", "synonym": [], "xref": [], "is_a": [ "HP:0025598" ], "is_obsolete": "", "replace_id": "" }, "HP:0025598": { "name": [ "inferior oblique muscle weakness", "inferior oblique muscle weakness" ], "alt_id": [], "def": "Decreased strength of the inferior oblique muscle.", "synonym": [ [ "inferior oblique palsy", "inferior oblique palsy" ] ], "xref": [], "is_a": [ "HP:0025596" ], "is_obsolete": "", "replace_id": "" }, "HP:0025599": { "name": [ "inferior oblique muscle overaction", "inferior oblique muscle overaction" ], "alt_id": [], "def": "A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye.", "synonym": [], "xref": [], "is_a": [ "HP:0025596" ], "is_obsolete": "", "replace_id": "" }, "HP:0025600": { "name": [ "abnormal inferior rectus muscle physiology", "abnormal inferior rectus muscle physiology" ], "alt_id": [], "def": "A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye.", "synonym": [], "xref": [], "is_a": [ "HP:0031748" ], "is_obsolete": "", "replace_id": "" }, "HP:0025601": { "name": [ "inferior rectus muscle weakness", "inferior rectus muscle weakness" ], "alt_id": [], "def": "Decreased strength of the inferior rectus muscle.", "synonym": [], "xref": [], "is_a": [ "HP:0025600" ], "is_obsolete": "", "replace_id": "" }, "HP:0025602": { "name": [ "inferior rectus muscle restriction", "inferior rectus muscle restriction" ], "alt_id": [], "def": "Mechanical limitation of the range of movement of the inferior rectus muscle.", "synonym": [], "xref": [], "is_a": [ "HP:0025601" ], "is_obsolete": "", "replace_id": "" }, "HP:0025603": { "name": [ "abnormal superior rectus muscle physiology", "abnormal superior rectus muscle physiology" ], "alt_id": [], "def": "A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe.", "synonym": [], "xref": [], "is_a": [ "HP:0031748" ], "is_obsolete": "", "replace_id": "" }, "HP:0025604": { "name": [ "orbital schwannoma", "orbital schwannoma" ], "alt_id": [], "def": "A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit.", "synonym": [], "xref": [], "is_a": [ "HP:0100012" ], "is_obsolete": "", "replace_id": "" }, "HP:0025605": { "name": [ "lid lag on downgaze", "lid lag on downgaze" ], "alt_id": [], "def": "Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign.", "synonym": [ [ "eyelid lag", "eyelid lag" ], [ "lid lag", "lid lag" ], [ "von graefe sign", "von graefe sign" ] ], "xref": [], "is_a": [ "HP:0031785" ], "is_obsolete": "", "replace_id": "" }, "HP:0025606": { "name": [ "abnormal medial rectus muscle physiology", "abnormal medial rectus muscle physiology" ], "alt_id": [], "def": "A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball.", "synonym": [], "xref": [], "is_a": [ "HP:0031740" ], "is_obsolete": "", "replace_id": "" }, "HP:0025607": { "name": [ "upper eyelid entropion", "upper eyelid entropion" ], "alt_id": [], "def": "An inward turning (inversion) of the margin of the upper eyelid.", "synonym": [], "xref": [], "is_a": [ "HP:0000621" ], "is_obsolete": "", "replace_id": "" }, "HP:0025608": { "name": [ "cicatricial ectropion", "cicatricial ectropion" ], "alt_id": [], "def": "An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring.", "synonym": [], "xref": [], "is_a": [ "HP:0000656" ], "is_obsolete": "", "replace_id": "" }, "HP:0025609": { "name": [ "anterior blepharitis", "anterior blepharitis" ], "alt_id": [], "def": "A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles.", "synonym": [], "xref": [], "is_a": [ "HP:0000498" ], "is_obsolete": "", "replace_id": "" }, "HP:0025610": { "name": [ "posterior blepharitis", "posterior blepharitis" ], "alt_id": [], "def": "A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia.", "synonym": [ [ "meibomian gland disease", "meibomian gland disease" ], [ "meibomian gland dysfunction", "meibomian gland dysfunction" ] ], "xref": [], "is_a": [ "HP:0000498" ], "is_obsolete": "", "replace_id": "" }, "HP:0025611": { "name": [ "epicanthus superciliaris", "epicanthus superciliaris" ], "alt_id": [], "def": "A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye).", "synonym": [], "xref": [], "is_a": [ "HP:0000286" ], "is_obsolete": "", "replace_id": "" }, "HP:0025612": { "name": [ "corneal astigmatism", "corneal astigmatism" ], "alt_id": [], "def": "A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea.", "synonym": [], "xref": [], "is_a": [ "HP:0000483" ], "is_obsolete": "", "replace_id": "" }, "HP:0025613": { "name": [ "focal emotional seizure", "focal emotional seizure" ], "alt_id": [], "def": "Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.", "synonym": [ [ "affective seizure", "affective seizure" ], [ "emotional seizure", "emotional seizure" ], [ "focal affective seizure", "focal affective seizure" ], [ "partial emotional seizure", "partial emotional seizure" ] ], "xref": [], "is_a": [ "HP:0032679" ], "is_obsolete": "", "replace_id": "" }, "HP:0025615": { "name": [ "abscess", "abscess" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0032251" ], "is_obsolete": "", "replace_id": "" }, "HP:0025616": { "name": [ "sterile abscess", "sterile abscess" ], "alt_id": [], "def": "An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms.", "synonym": [], "xref": [], "is_a": [ "HP:0025615" ], "is_obsolete": "", "replace_id": "" }, "HP:0025617": { "name": [ "abnormal plasma cell count", "abnormal plasma cell count" ], "alt_id": [], "def": "An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.", "synonym": [], "xref": [], "is_a": [ "HP:0002846" ], "is_obsolete": "", "replace_id": "" }, "HP:0025618": { "name": [ "reduced plasma cell count", "reduce plasma cell count" ], "alt_id": [], "def": "An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.", "synonym": [], "xref": [], "is_a": [ "HP:0025617" ], "is_obsolete": "", "replace_id": "" }, "HP:0025619": { "name": [ "elevated plasma cell count", "elevate plasma cell count" ], "alt_id": [], "def": "An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.", "synonym": [], "xref": [], "is_a": [ "HP:0025617" ], "is_obsolete": "", "replace_id": "" }, "HP:0025620": { "name": [ "abnormal proportion of cd4+ central memory cells", "abnormal proportion of cd4+ central memory cell" ], "alt_id": [], "def": "An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype.", "synonym": [ [ "abnormal proportion of central memory cd4+ , alpha - beta t cells", "abnormal proportion of central memory cd4+ , alpha - beta t cell" ] ], "xref": [], "is_a": [ "HP:0410379" ], "is_obsolete": "", "replace_id": "" }, "HP:0025621": { "name": [ "obsolete increased proportion of cd4+ central memory cells", "obsolete increase proportion of cd4+ central memory cell" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0410393" }, "HP:0025622": { "name": [ "obsolete decreased proportion of cd4+ central memory cells", "obsolete decrease proportion of cd4+ central memory cell" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0410388" }, "HP:0025623": { "name": [ "abnormal proportion of cd4+ effector memory cells", "abnormal proportion of cd4+ effector memory cell" ], "alt_id": [ "HP:0410382" ], "def": "An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.", "synonym": [ [ "abnormal proportion of cd4 - positive effector memory cells", "abnormal proportion of cd4 - positive effector memory cell" ], [ "abnormal proportion of effector memory cd4 - positive , alpha - beta t cells", "abnormal proportion of effector memory cd4 - positive , alpha - beta t cell" ] ], "xref": [], "is_a": [ "HP:0031392" ], "is_obsolete": "", "replace_id": "" }, "HP:0025624": { "name": [ "reduced proportion of cd4+ effector memory t cells", "reduce proportion of cd4+ effector memory t cell" ], "alt_id": [ "HP:0410387" ], "def": "An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.", "synonym": [ [ "decreased proportion of cd4+ effector memory t cells", "decreased proportion of cd4+ effector memory t cell" ], [ "decreased proportion of cd4 - positive effector memory t cells", "decreased proportion of cd4 - positive effector memory t cell" ], [ "decreased proportion of effector memory cd4 - positive , alpha - beta t cells", "decreased proportion of effector memory cd4 - positive , alpha - beta t cell" ] ], "xref": [], "is_a": [ "HP:0025623", "HP:0032218" ], "is_obsolete": "", "replace_id": "" }, "HP:0025625": { "name": [ "elevated proportion of cd4+ effector memory t cells", "elevate proportion of cd4+ effector memory t cell" ], "alt_id": [], "def": "An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype.", "synonym": [ [ "increased proportion of cd4+ effector memory t cells", "increase proportion of cd4+ effector memory t cell" ], [ "increased proportion of cd4 - positive effector memory t cells", "increase proportion of cd4 - positive effector memory t cell" ], [ "increased proportion of effector cd4 - positive , alpha - beta t cells", "increase proportion of effector cd4 - positive , alpha - beta t cell" ] ], "xref": [], "is_a": [ "HP:0025623", "HP:0032219" ], "is_obsolete": "", "replace_id": "" }, "HP:0025626": { "name": [ "increased circulating oleate level", "increase circulate oleate level" ], "alt_id": [], "def": "An abnormally high concentration of oleic acid (oleate) in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0003455" ], "is_obsolete": "", "replace_id": "" }, "HP:0025627": { "name": [ "increased circulating octadecanoate level", "increase circulate octadecanoate level" ], "alt_id": [], "def": "An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid).", "synonym": [], "xref": [], "is_a": [ "HP:0003455" ], "is_obsolete": "", "replace_id": "" }, "HP:0025628": { "name": [ "increased circulating myristoleate level", "increase circulate myristoleate level" ], "alt_id": [], "def": "An abnormally high concentration of myristoleate in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0003455" ], "is_obsolete": "", "replace_id": "" }, "HP:0025629": { "name": [ "anti - myelin - associated glycoprotein antibody positivity", "anti - myelin - associate glycoprotein antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG).", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0025630": { "name": [ "argininosuccinic aciduria", "argininosuccinic aciduria" ], "alt_id": [], "def": "Increased amount of argininosuccinate in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033097" ], "is_obsolete": "", "replace_id": "" }, "HP:0025631": { "name": [ "alpha - aminobutyric aciduria", "alpha - aminobutyric aciduria" ], "alt_id": [], "def": "Increased amount of alpha-aminobutyric acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0040156" ], "is_obsolete": "", "replace_id": "" }, "HP:0025632": { "name": [ "reduced reactive oxygen species production in neutrophils", "reduce reactive oxygen specie production in neutrophil" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0025463" ], "is_obsolete": "", "replace_id": "" }, "HP:0025633": { "name": [ "abnormal ureter morphology", "abnormal ureter morphology" ], "alt_id": [], "def": "A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.", "synonym": [], "xref": [], "is_a": [ "HP:0000069" ], "is_obsolete": "", "replace_id": "" }, "HP:0025634": { "name": [ "abnormal ureter physiology", "abnormal ureter physiology" ], "alt_id": [], "def": "A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.", "synonym": [], "xref": [], "is_a": [ "HP:0000069" ], "is_obsolete": "", "replace_id": "" }, "HP:0025635": { "name": [ "ureteral polyp", "ureteral polyp" ], "alt_id": [], "def": "A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk.", "synonym": [ [ "polyp of the ureter", "polyp of the ureter" ], [ "ureter polyp", "ureter polyp" ] ], "xref": [ "NCIT:C4530" ], "is_a": [ "HP:0100516" ], "is_obsolete": "", "replace_id": "" }, "HP:0025636": { "name": [ "endometritis", "endometritis" ], "alt_id": [], "def": "Inflammation of the inner lining of the uterus (endometrium).", "synonym": [ [ "endometrial inflammation", "endometrial inflammation" ], [ "inflammation of the inner lining of the uterus", "inflammation of the inner lining of the uterus" ] ], "xref": [], "is_a": [ "HP:0030126" ], "is_obsolete": "", "replace_id": "" }, "HP:0025637": { "name": [ "vasospasm", "vasospasm" ], "alt_id": [], "def": "Narrowing of an artery due to constriction of the blood vessels.", "synonym": [ [ "angiospasm", "angiospasm" ], [ "blood vessel spasm", "blood vessel spasm" ], [ "vascular spasm", "vascular spasm" ] ], "xref": [], "is_a": [ "HP:0025323" ], "is_obsolete": "", "replace_id": "" }, "HP:0025638": { "name": [ "elevated urinary n - butyrylglycine", "elevate urinary n - butyrylglycine" ], "alt_id": [], "def": "An increased level of N-butyrylglycine in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0040156" ], "is_obsolete": "", "replace_id": "" }, "HP:0025639": { "name": [ "increased urinary zinc level", "increase urinary zinc level" ], "alt_id": [], "def": "An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection.", "synonym": [], "xref": [], "is_a": [ "HP:0025640" ], "is_obsolete": "", "replace_id": "" }, "HP:0025640": { "name": [ "abnormal urinary mineral level", "abnormal urinary mineral level" ], "alt_id": [], "def": "An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium.", "synonym": [], "xref": [], "is_a": [ "HP:0003110" ], "is_obsolete": "", "replace_id": "" }, "HP:0025641": { "name": [ "elevated circulating glycolate concentration", "elevate circulate glycolate concentration" ], "alt_id": [], "def": "An abnormally increased concentration of glycolate in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010996" ], "is_obsolete": "", "replace_id": "" }, "HP:0025643": { "name": [ "tarlov cyst", "tarlov cyst" ], "alt_id": [], "def": "A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine.", "synonym": [ [ "perineural cyst", "perineural cyst" ] ], "xref": [], "is_a": [ "HP:0030724" ], "is_obsolete": "", "replace_id": "" }, "HP:0025644": { "name": [ "fixation - off epileptiform discharges", "fixation - off epileptiform discharge" ], "alt_id": [], "def": "Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG).", "synonym": [ [ "fixation - off sensitivity", "fixation - off sensitivity" ] ], "xref": [], "is_a": [ "HP:0011182" ], "is_obsolete": "", "replace_id": "" }, "HP:0025646": { "name": [ "bilateral polymicrogyria", "bilateral polymicrogyria" ], "alt_id": [], "def": "Polymicrogyria that affects all or some of both cerebral hemispheres.", "synonym": [], "xref": [], "is_a": [ "HP:0002126" ], "is_obsolete": "", "replace_id": "" }, "HP:0025647": { "name": [ "steroid - sensitive nephrotic syndrome", "steroid - sensitive nephrotic syndrome" ], "alt_id": [], "def": "A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy.", "synonym": [], "xref": [], "is_a": [ "HP:0000100" ], "is_obsolete": "", "replace_id": "" }, "HP:0025648": { "name": [ "steroid - sensitive nephrotic syndrome with infrequent relapses", "steroid - sensitive nephrotic syndrome with infrequent relapse" ], "alt_id": [], "def": "A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period.", "synonym": [], "xref": [], "is_a": [ "HP:0025647" ], "is_obsolete": "", "replace_id": "" }, "HP:0025649": { "name": [ "steroid - sensitive nephrotic syndrome with frequent relapses", "steroid - sensitive nephrotic syndrome with frequent relapse" ], "alt_id": [], "def": "A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period.", "synonym": [], "xref": [], "is_a": [ "HP:0025647" ], "is_obsolete": "", "replace_id": "" }, "HP:0025650": { "name": [ "steroid - dependent nephrotic syndrome", "steroid - dependent nephrotic syndrome" ], "alt_id": [], "def": "A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy.", "synonym": [], "xref": [], "is_a": [ "HP:0000100" ], "is_obsolete": "", "replace_id": "" }, "HP:0030000": { "name": [ "emg : repetitive nerve stimulation abnormality", "emg : repetitive nerve stimulation abnormality" ], "alt_id": [], "def": "Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz.", "synonym": [], "xref": [ "UMLS:C4022681" ], "is_a": [ "HP:0003457" ], "is_obsolete": "", "replace_id": "" }, "HP:0030001": { "name": [ "lagopthalmos", "lagopthalmos" ], "alt_id": [], "def": "A condition in which the eyelids do not close to cover the eye completely.", "synonym": [ [ "eyelids stay open", "eyelid stay open" ], [ "inability to close the eyelids", "inability to close the eyelid" ] ], "xref": [ "UMLS:C4022680" ], "is_a": [ "HP:0000492" ], "is_obsolete": "", "replace_id": "" }, "HP:0030002": { "name": [ "nocturnal lagophthalmos", "nocturnal lagophthalmos" ], "alt_id": [], "def": "The inability to close the eyelids during sleep.", "synonym": [ [ "eyelids stay open at night", "eyelid stay open at night" ], [ "inability to close the eyelids at night", "inability to close the eyelid at night" ] ], "xref": [ "SNOMEDCT_US:417740005", "UMLS:C1563118" ], "is_a": [ "HP:0030001" ], "is_obsolete": "", "replace_id": "" }, "HP:0030003": { "name": [ "paralytic lagophthalmos", "paralytic lagophthalmos" ], "alt_id": [], "def": "A type of lagophthalmos that occurs in association with facial nerve palsy.", "synonym": [], "xref": [ "SNOMEDCT_US:59890007", "UMLS:C0155197" ], "is_a": [ "HP:0030001" ], "is_obsolete": "", "replace_id": "" }, "HP:0030004": { "name": [ "cicatricial lagophthalmos", "cicatricial lagophthalmos" ], "alt_id": [], "def": "A type of lagophthalmos that occurs following trauma or surgery.", "synonym": [ [ "eyelids stay open due to scarring", "eyelid stay open due to scar" ], [ "inability to close the eyelids due to scarring", "inability to close the eyelid due to scar" ] ], "xref": [ "SNOMEDCT_US:9042000", "UMLS:C0155199" ], "is_a": [ "HP:0030001" ], "is_obsolete": "", "replace_id": "" }, "HP:0030005": { "name": [ "capillary leak", "capillary leak" ], "alt_id": [], "def": "An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes.", "synonym": [ [ "increased capillary permeability", "increase capillary permeability" ], [ "systemic capillary leak syndrome", "systemic capillary leak syndrome" ] ], "xref": [ "MSH:D019559", "SNOMEDCT_US:1608005", "SNOMEDCT_US:87730004", "UMLS:C0343084", "UMLS:C1382398" ], "is_a": [ "HP:0025018" ], "is_obsolete": "", "replace_id": "" }, "HP:0030006": { "name": [ "single fiber emg abnormality", "single fiber emg abnormality" ], "alt_id": [], "def": "Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers.", "synonym": [ [ "single fibre emg abnormality", "single fibre emg abnormality" ] ], "xref": [ "UMLS:C4022679" ], "is_a": [ "HP:0003457" ], "is_obsolete": "", "replace_id": "" }, "HP:0030007": { "name": [ "emg : positive sharp waves", "emg : positive sharp wave" ], "alt_id": [], "def": "These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform.", "synonym": [], "xref": [ "SNOMEDCT_US:251527008", "UMLS:C0429349" ], "is_a": [ "HP:0003482" ], "is_obsolete": "", "replace_id": "" }, "HP:0030008": { "name": [ "cervical agenesis", "cervical agenesis" ], "alt_id": [], "def": "Congenital absence of the cervix.", "synonym": [ [ "absent cervix", "absent cervix" ], [ "aplasia of the cervix", "aplasia of the cervix" ], [ "cervical aplasia", "cervical aplasia" ] ], "xref": [ "SNOMEDCT_US:37687000", "UMLS:C0266404" ], "is_a": [ "HP:0012888" ], "is_obsolete": "", "replace_id": "" }, "HP:0030009": { "name": [ "cervical insufficiency", "cervical insufficiency" ], "alt_id": [], "def": "A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent", "synonym": [ [ "incompetent cervix", "incompetent cervix" ] ], "xref": [ "MSH:D002581", "SNOMEDCT_US:17382005", "UMLS:C0007871" ], "is_a": [ "HP:0012888" ], "is_obsolete": "", "replace_id": "" }, "HP:0030010": { "name": [ "hydrometrocolpos", "hydrometrocolpos" ], "alt_id": [], "def": "Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.", "synonym": [], "xref": [ "SNOMEDCT_US:60023006", "UMLS:C0269209" ], "is_a": [ "HP:0000142" ], "is_obsolete": "", "replace_id": "" }, "HP:0030011": { "name": [ "imperforate hymen", "imperforate hymen" ], "alt_id": [], "def": "A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.", "synonym": [], "xref": [ "MSH:C562397", "SNOMEDCT_US:65937002", "UMLS:C0152436" ], "is_a": [ "HP:0000142" ], "is_obsolete": "", "replace_id": "" }, "HP:0030012": { "name": [ "abnormal female reproductive system physiology", "abnormal female reproductive system physiology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal female genital system physiology", "abnormal female genital system physiology" ], [ "abnormal female reproductive system physiology", "abnormal female reproductive system physiology" ] ], "xref": [ "UMLS:C4020714", "UMLS:C4022678" ], "is_a": [ "HP:0000080" ], "is_obsolete": "", "replace_id": "" }, "HP:0030013": { "name": [ "obsolete endometriosis", "obsolete endometriosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0030127" }, "HP:0030014": { "name": [ "female sexual dysfunction", "female sexual dysfunction" ], "alt_id": [], "def": "A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity", "synonym": [], "xref": [ "UMLS:C1112442" ], "is_a": [ "HP:0030012" ], "is_obsolete": "", "replace_id": "" }, "HP:0030015": { "name": [ "female anorgasmia", "female anorgasmia" ], "alt_id": [], "def": "The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal.", "synonym": [ [ "female orgasmic disorder", "female orgasmic disorder" ] ], "xref": [ "SNOMEDCT_US:60103007", "UMLS:C0033948", "UMLS:C4022677" ], "is_a": [ "HP:0030014", "HP:0046502" ], "is_obsolete": "", "replace_id": "" }, "HP:0030016": { "name": [ "dyspareunia", "dyspareunia" ], "alt_id": [], "def": "Recurrent or persistent genital pain associated with sexual intercourse.", "synonym": [], "xref": [ "MSH:D004414", "SNOMEDCT_US:71315007", "UMLS:C1384606" ], "is_a": [ "HP:0030014" ], "is_obsolete": "", "replace_id": "" }, "HP:0030017": { "name": [ "vaginismus", "vaginismus" ], "alt_id": [], "def": "Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress.", "synonym": [ [ "myalgia of pelvic floor", "myalgia of pelvic floor" ], [ "pelvic floor myalgia", "pelvic floor myalgia" ] ], "xref": [ "MSH:D052065", "SNOMEDCT_US:79012001", "UMLS:C2004487" ], "is_a": [ "HP:0030014" ], "is_obsolete": "", "replace_id": "" }, "HP:0030018": { "name": [ "decreased female libido", "decrease female libido" ], "alt_id": [], "def": "Dminished sexual desire in female.", "synonym": [ [ "decreased female sex drive", "decrease female sex drive" ] ], "xref": [ "UMLS:C4022676" ], "is_a": [ "HP:0030014", "HP:0046504" ], "is_obsolete": "", "replace_id": "" }, "HP:0030019": { "name": [ "increased female libido", "increase female libido" ], "alt_id": [], "def": "Elevated sexual desire in female", "synonym": [ [ "increased female sex drive", "increase female sex drive" ] ], "xref": [ "UMLS:C4022675" ], "is_a": [ "HP:0030014", "HP:0046503" ], "is_obsolete": "", "replace_id": "" }, "HP:0030021": { "name": [ "auricular tag", "auricular tag" ], "alt_id": [], "def": "Small protrusion within the pinna.", "synonym": [], "xref": [ "UMLS:C4022674" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0030022": { "name": [ "question mark ear", "question mark ear" ], "alt_id": [], "def": "Cleft between the helix and the lobe.", "synonym": [ [ "constricted ear", "constrict ear" ], [ "cosman ear", "cosman ear" ], [ "question mark ear", "question mark ear" ], [ "question mark ears", "question mark ear" ] ], "xref": [ "UMLS:C3888103" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0030023": { "name": [ "quelprud nodule", "quelprud nodule" ], "alt_id": [], "def": "Small cartilaginous prominence on the posterior concha.", "synonym": [], "xref": [ "UMLS:C4022673" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0030024": { "name": [ "pretragal ectopia", "pretragal ectopia" ], "alt_id": [], "def": "Variably shaped, cartilage-containing tissue anterior to the external auditory meatus.", "synonym": [ [ "accessory tragus", "accessory tragus" ], [ "extra cartilage in front of the ear", "extra cartilage in front of the ear" ], [ "pretragal duplication", "pretragal duplication" ] ], "xref": [ "SNOMEDCT_US:204245004", "UMLS:C0266609" ], "is_a": [ "HP:0000383" ], "is_obsolete": "", "replace_id": "" }, "HP:0030025": { "name": [ "auricular pit", "auricular pit" ], "alt_id": [], "def": "Small indentation in the lower part of the ascending helix, concha, or in the crus helix.", "synonym": [], "xref": [ "UMLS:C4022672" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0030026": { "name": [ "squared superior portion of helix", "square superior portion of helix" ], "alt_id": [], "def": "Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.", "synonym": [], "xref": [ "UMLS:C4022671" ], "is_a": [ "HP:0011039" ], "is_obsolete": "", "replace_id": "" }, "HP:0030027": { "name": [ "abnormality of the nasal cartilage", "abnormality of the nasal cartilage" ], "alt_id": [], "def": "A morphological anomaly of the nasal cartilage.", "synonym": [ [ "abnormality of cartilage of nose", "abnormality of cartilage of nose" ], [ "abnormality of the nasal cartilage", "abnormality of the nasal cartilage" ], [ "anomaly of cartilage of nose", "anomaly of cartilage of nose" ], [ "anomaly of nasal cartilage", "anomaly of nasal cartilage" ], [ "deformity of cartilage of nose", "deformity of cartilage of nose" ], [ "deformity of nasal cartilage", "deformity of nasal cartilage" ], [ "malformation of cartilage of nose", "malformation of cartilage of nose" ], [ "malformation of nasal cartilage", "malformation of nasal cartilage" ] ], "xref": [ "UMLS:C4022670" ], "is_a": [ "HP:0010938" ], "is_obsolete": "", "replace_id": "" }, "HP:0030028": { "name": [ "absent nasal cartilage", "absent nasal cartilage" ], "alt_id": [], "def": "Lack of a palpable nasal cartilage.", "synonym": [ [ "absent cartilage of nose", "absent cartilage of nose" ], [ "absent nasal cartilage", "absent nasal cartilage" ], [ "agenesis of cartilage of nose", "agenesis of cartilage of nose" ], [ "agenesis of nasal cartilage", "agenesis of nasal cartilage" ], [ "failure of development of cartilage of nose", "failure of development of cartilage of nose" ], [ "failure of development of nasal cartilage", "failure of development of nasal cartilage" ], [ "missing cartilage of nose", "miss cartilage of nose" ], [ "missing nasal cartilage", "miss nasal cartilage" ] ], "xref": [ "MSH:C562753", "SNOMEDCT_US:232381002", "UMLS:C4022669", "UMLS:C4082198" ], "is_a": [ "HP:0030027" ], "is_obsolete": "", "replace_id": "" }, "HP:0030029": { "name": [ "splayed fingers", "splayed finger" ], "alt_id": [], "def": "Divergence of digits along the A/P axis (in the plane of the palm).", "synonym": [ [ "splayed fingers", "splayed finger" ], [ "spreading of the fingers", "spreading of the finger" ] ], "xref": [ "UMLS:C4021057" ], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0030030": { "name": [ "absent ray", "absent ray" ], "alt_id": [], "def": "The absence of all phalanges of a digit and the associated metacarpal /metatarsal.", "synonym": [], "xref": [ "UMLS:C4022668" ], "is_a": [ "HP:0002813" ], "is_obsolete": "", "replace_id": "" }, "HP:0030031": { "name": [ "small toe", "small toe" ], "alt_id": [], "def": "Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual.", "synonym": [ [ "small toe", "small toe" ] ], "xref": [ "UMLS:C4022667" ], "is_a": [ "HP:0001991" ], "is_obsolete": "", "replace_id": "" }, "HP:0030032": { "name": [ "partial absence of foot", "partial absence of foot" ], "alt_id": [], "def": "An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals.", "synonym": [ [ "partial absence of foot", "partial absence of foot" ] ], "xref": [ "UMLS:C4022666" ], "is_a": [ "HP:0006494" ], "is_obsolete": "", "replace_id": "" }, "HP:0030033": { "name": [ "small finger", "small finger" ], "alt_id": [], "def": "Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.", "synonym": [ [ "small finger", "small finger" ] ], "xref": [ "SNOMEDCT_US:299058009", "UMLS:C0575827" ], "is_a": [ "HP:0006265" ], "is_obsolete": "", "replace_id": "" }, "HP:0030034": { "name": [ "glomerular basement membrane lamellation", "glomerular basement membrane lamellation" ], "alt_id": [], "def": "Presence of abnormal additional layers of the basement membrane of the glomerulus.", "synonym": [ [ "lamellated / basket - woven thickened glomerular basement membranes", "lamellated / basket - woven thicken glomerular basement membrane" ], [ "lamellation of the glomerular basement membrane", "lamellation of the glomerular basement membrane" ] ], "xref": [ "UMLS:C3278307" ], "is_a": [ "HP:0033282" ], "is_obsolete": "", "replace_id": "" }, "HP:0030035": { "name": [ "struvite nephrolithiasis", "struvite nephrolithiasis" ], "alt_id": [], "def": "Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).", "synonym": [ [ "struvite kidney stones", "struvite kidney stone" ] ], "xref": [ "UMLS:C4021056" ], "is_a": [ "HP:0000787" ], "is_obsolete": "", "replace_id": "" }, "HP:0030036": { "name": [ "isothenuria", "isothenuria" ], "alt_id": [], "def": "Inability of the kidneys to produce either concentrated or dilute urine.", "synonym": [], "xref": [ "UMLS:C4022665" ], "is_a": [ "HP:0012211" ], "is_obsolete": "", "replace_id": "" }, "HP:0030037": { "name": [ "bifid ureter", "bifid ureter" ], "alt_id": [], "def": "Incomplete duplication of the ureter.", "synonym": [], "xref": [ "UMLS:C3887498" ], "is_a": [ "HP:0000073" ], "is_obsolete": "", "replace_id": "" }, "HP:0030038": { "name": [ "enchondroma", "enchondroma" ], "alt_id": [], "def": "A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.", "synonym": [], "xref": [ "MSH:D002812", "SNOMEDCT_US:31186001", "SNOMEDCT_US:423699002", "UMLS:C1704356" ], "is_a": [ "HP:0010622" ], "is_obsolete": "", "replace_id": "" }, "HP:0030039": { "name": [ "fused thoracic vertebrae", "fuse thoracic vertebra" ], "alt_id": [], "def": "A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.", "synonym": [], "xref": [ "UMLS:C4022664" ], "is_a": [ "HP:0002948" ], "is_obsolete": "", "replace_id": "" }, "HP:0030040": { "name": [ "fused lumbar vertebrae", "fuse lumbar vertebra" ], "alt_id": [], "def": "A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another.", "synonym": [], "xref": [ "UMLS:C4022663" ], "is_a": [ "HP:0002948" ], "is_obsolete": "", "replace_id": "" }, "HP:0030041": { "name": [ "schmorl 's node", "schmorl 's node" ], "alt_id": [], "def": "A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.", "synonym": [ [ "schmorl 's nodes", "schmorl 's node" ] ], "xref": [ "SNOMEDCT_US:45181002", "UMLS:C0410632" ], "is_a": [ "HP:0003468" ], "is_obsolete": "", "replace_id": "" }, "HP:0030042": { "name": [ "incomplete ossification of pubis", "incomplete ossification of pubis" ], "alt_id": [], "def": "Failure to complete ossification (maturation and calcification) of the pubic bone.", "synonym": [ [ "incomplete maturation of the pubic bone", "incomplete maturation of the pubic bone" ] ], "xref": [ "SNOMEDCT_US:373940002", "UMLS:C0685678" ], "is_a": [ "HP:0009105" ], "is_obsolete": "", "replace_id": "" }, "HP:0030043": { "name": [ "hip subluxation", "hip subluxation" ], "alt_id": [], "def": "A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.", "synonym": [ [ "partial hip dislocation", "partial hip dislocation" ], [ "subluxation involving the hip joint", "subluxation involve the hip joint" ] ], "xref": [ "SNOMEDCT_US:263057000", "UMLS:C0434785" ], "is_a": [ "HP:0001384" ], "is_obsolete": "", "replace_id": "" }, "HP:0030044": { "name": [ "flexion contracture of digit", "flexion contracture of digit" ], "alt_id": [], "def": "A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.", "synonym": [], "xref": [ "UMLS:C1839864" ], "is_a": [ "HP:0001371" ], "is_obsolete": "", "replace_id": "" }, "HP:0030045": { "name": [ "serpentine fibula", "serpentine fibula" ], "alt_id": [], "def": "Elongated curved (S-shaped) fibulae.", "synonym": [ [ "s - shaped calf bone", "s - shape calf bone" ] ], "xref": [ "UMLS:C3805325" ], "is_a": [ "HP:0002991" ], "is_obsolete": "", "replace_id": "" }, "HP:0030046": { "name": [ "hypoglycosylation of alpha - dystroglycan", "hypoglycosylation of alpha - dystroglycan" ], "alt_id": [], "def": "A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.", "synonym": [], "xref": [ "UMLS:C4015098" ], "is_a": [ "HP:0030112" ], "is_obsolete": "", "replace_id": "" }, "HP:0030047": { "name": [ "abnormal lateral ventricle morphology", "abnormal lateral ventricle morphology" ], "alt_id": [], "def": "A morphological anomaly of the lateral ventricle.", "synonym": [ [ "abnormality of lateral ventricle", "abnormality of lateral ventricle" ] ], "xref": [ "UMLS:C4022662" ], "is_a": [ "HP:0002118" ], "is_obsolete": "", "replace_id": "" }, "HP:0030048": { "name": [ "colpocephaly", "colpocephaly" ], "alt_id": [], "def": "Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.", "synonym": [], "xref": [ "MSH:C535973", "SNOMEDCT_US:253160006", "UMLS:C0431384" ], "is_a": [ "HP:0030047" ], "is_obsolete": "", "replace_id": "" }, "HP:0030049": { "name": [ "brain abscess", "brain abscess" ], "alt_id": [], "def": "A collection of pus, immune cells, and other material in the brain.", "synonym": [ [ "brain abscess", "brain abscess" ] ], "xref": [ "MSH:D001922", "SNOMEDCT_US:441806004", "UMLS:C0006105" ], "is_a": [ "HP:0011450", "HP:0025615" ], "is_obsolete": "", "replace_id": "" }, "HP:0030050": { "name": [ "narcolepsy", "narcolepsy" ], "alt_id": [], "def": "An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis.", "synonym": [], "xref": [ "MSH:D009290", "SNOMEDCT_US:60380001", "UMLS:C0027404" ], "is_a": [ "HP:0002360" ], "is_obsolete": "", "replace_id": "" }, "HP:0030051": { "name": [ "tip - toe gait", "tip - toe gait" ], "alt_id": [ "HP:0002394" ], "def": "An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.", "synonym": [ [ "walking on tiptoes", "walk on tiptoe" ] ], "xref": [ "UMLS:C1843570" ], "is_a": [ "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0030052": { "name": [ "inguinal freckling", "inguinal freckling" ], "alt_id": [], "def": "The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.", "synonym": [ [ "freckles in groin region", "freckle in groin region" ] ], "xref": [ "UMLS:C1834297" ], "is_a": [ "HP:0001480" ], "is_obsolete": "", "replace_id": "" }, "HP:0030053": { "name": [ "stiff skin", "stiff skin" ], "alt_id": [], "def": "An induration (hardening) of the skin", "synonym": [ [ "indurated skin", "indurate skin" ], [ "stiff skin", "stiff skin" ] ], "xref": [ "UMLS:C3276815" ], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0030054": { "name": [ "perifollicular fibrosis", "perifollicular fibrosis" ], "alt_id": [], "def": "Presence of excess fibrous connective tissue surrounding hair follicules.", "synonym": [], "xref": [ "UMLS:C2748531" ], "is_a": [ "HP:0031285" ], "is_obsolete": "", "replace_id": "" }, "HP:0030055": { "name": [ "hyperconvex toenail", "hyperconvex toenail" ], "alt_id": [], "def": "When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity.", "synonym": [], "xref": [ "UMLS:C4022661" ], "is_a": [ "HP:0001795" ], "is_obsolete": "", "replace_id": "" }, "HP:0030056": { "name": [ "uncombable hair", "uncombable hair" ], "alt_id": [], "def": "Hair that is disorderly, stands out from the scalp, and cannot be combed flat.", "synonym": [ [ "uncombable hair", "uncombable hair" ] ], "xref": [ "UMLS:C1860607" ], "is_a": [ "HP:0010719" ], "is_obsolete": "", "replace_id": "" }, "HP:0030057": { "name": [ "autoimmune antibody positivity", "autoimmune antibody positivity" ], "alt_id": [], "def": "The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.", "synonym": [], "xref": [ "UMLS:C4022660" ], "is_a": [ "HP:0002960" ], "is_obsolete": "", "replace_id": "" }, "HP:0030058": { "name": [ "sickled erythrocytes", "sickled erythrocyte" ], "alt_id": [], "def": "An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).", "synonym": [], "xref": [ "UMLS:C2237347" ], "is_a": [ "HP:0004447" ], "is_obsolete": "", "replace_id": "" }, "HP:0030059": { "name": [ "mitochondrial depletion", "mitochondrial depletion" ], "alt_id": [], "def": "An abnormal reduction in mitochondrial DNA content of cells.", "synonym": [], "xref": [ "UMLS:C4022659" ], "is_a": [ "HP:0003287" ], "is_obsolete": "", "replace_id": "" }, "HP:0030060": { "name": [ "nervous tissue neoplasm", "nervous tissue neoplasm" ], "alt_id": [], "def": "A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).", "synonym": [], "xref": [ "MSH:D009380", "UMLS:C0027665" ], "is_a": [ "HP:0011792" ], "is_obsolete": "", "replace_id": "" }, "HP:0030061": { "name": [ "neuroectodermal neoplasm", "neuroectodermal neoplasm" ], "alt_id": [], "def": "A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.", "synonym": [], "xref": [ "MSH:D017599", "SNOMEDCT_US:253096008", "SNOMEDCT_US:73676002", "UMLS:C0206093" ], "is_a": [ "HP:0030060" ], "is_obsolete": "", "replace_id": "" }, "HP:0030062": { "name": [ "craniopharyngioma", "craniopharyngioma" ], "alt_id": [], "def": "A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system.", "synonym": [], "xref": [ "MSH:D003397", "SNOMEDCT_US:189179009", "SNOMEDCT_US:40009002", "UMLS:C0010276" ], "is_a": [ "HP:0030061" ], "is_obsolete": "", "replace_id": "" }, "HP:0030063": { "name": [ "neuroepithelial neoplasm", "neuroepithelial neoplasm" ], "alt_id": [], "def": "A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium.", "synonym": [], "xref": [ "MSH:D018302", "UMLS:C0206715" ], "is_a": [ "HP:0030061" ], "is_obsolete": "", "replace_id": "" }, "HP:0030064": { "name": [ "neurocytoma", "neurocytoma" ], "alt_id": [], "def": "A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles.", "synonym": [], "xref": [ "MSH:D018306", "SNOMEDCT_US:128858006", "UMLS:C1622510" ], "is_a": [ "HP:0030063" ], "is_obsolete": "", "replace_id": "" }, "HP:0030065": { "name": [ "primitive neuroectodermal tumor", "primitive neuroectodermal tumor" ], "alt_id": [], "def": "A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation.", "synonym": [ [ "primitive neuroectodermal tumour", "primitive neuroectodermal tumour" ] ], "xref": [ "MSH:D018242", "SNOMEDCT_US:39781001", "SNOMEDCT_US:55045006", "SNOMEDCT_US:699028006", "UMLS:C0206663" ], "is_a": [ "HP:0030063" ], "is_obsolete": "", "replace_id": "" }, "HP:0030066": { "name": [ "ependymoblastoma", "ependymoblastoma" ], "alt_id": [], "def": "A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system.", "synonym": [], "xref": [ "MSH:D018242", "SNOMEDCT_US:21589007", "SNOMEDCT_US:715901002", "UMLS:C0700367" ], "is_a": [ "HP:0030070" ], "is_obsolete": "", "replace_id": "" }, "HP:0030067": { "name": [ "peripheral primitive neuroectodermal neoplasm", "peripheral primitive neuroectodermal neoplasm" ], "alt_id": [], "def": "A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.", "synonym": [], "xref": [ "MSH:D018241", "SNOMEDCT_US:253096008", "SNOMEDCT_US:703707001", "SNOMEDCT_US:73676002", "UMLS:C0684337" ], "is_a": [ "HP:0030065" ], "is_obsolete": "", "replace_id": "" }, "HP:0030068": { "name": [ "olfactory esthesioneuroblastoma", "olfactory esthesioneuroblastoma" ], "alt_id": [], "def": "A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate.", "synonym": [], "xref": [ "MSH:D018304", "SNOMEDCT_US:422886007", "SNOMEDCT_US:68614005", "SNOMEDCT_US:76060004", "UMLS:C0206717" ], "is_a": [ "HP:0003006" ], "is_obsolete": "", "replace_id": "" }, "HP:0030069": { "name": [ "primary central nervous system lymphoma", "primary central nervous system lymphoma" ], "alt_id": [], "def": "A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS.", "synonym": [ [ "primary cns lymphoma", "primary cns lymphoma" ] ], "xref": [ "SNOMEDCT_US:21964009", "SNOMEDCT_US:307649006", "UMLS:C0280803" ], "is_a": [ "HP:0012539" ], "is_obsolete": "", "replace_id": "" }, "HP:0030070": { "name": [ "central primitive neuroectodermal tumor", "central primitive neuroectodermal tumor" ], "alt_id": [], "def": "A primitive neuroectodermal neoplasm that occurs in the central nervous system.", "synonym": [ [ "central primitive neuroectodermal tumour", "central primitive neuroectodermal tumour" ] ], "xref": [ "SNOMEDCT_US:39781001", "UMLS:C3887678" ], "is_a": [ "HP:0030065" ], "is_obsolete": "", "replace_id": "" }, "HP:0030071": { "name": [ "medulloepithelioma", "medulloepithelioma" ], "alt_id": [], "def": "A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal.", "synonym": [], "xref": [ "MSH:D018242", "SNOMEDCT_US:39005004", "SNOMEDCT_US:715903004", "UMLS:C0334596" ], "is_a": [ "HP:0030070" ], "is_obsolete": "", "replace_id": "" }, "HP:0030072": { "name": [ "paranasal sinus neoplasm", "paranasal sinus neoplasm" ], "alt_id": [], "def": "A tumor that originates in the paranasal sinus.", "synonym": [ [ "neoplasm of the paranasal sinuses", "neoplasm of the paranasal sinus" ], [ "tumor of the paranasal sinuses", "tumor of the paranasal sinus" ], [ "tumour of the paranasal sinuses", "tumour of the paranasal sinus" ] ], "xref": [ "MSH:D010255", "NCIT:C3262", "SNOMEDCT_US:126675008", "UMLS:C0030470" ], "is_a": [ "HP:0000245", "HP:0012720" ], "is_obsolete": "", "replace_id": "" }, "HP:0030073": { "name": [ "obsolete pharyngeal neoplasm", "obsolete pharyngeal neoplasm" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0100638" }, "HP:0030074": { "name": [ "chemodectoma", "chemodectoma" ], "alt_id": [], "def": "A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.", "synonym": [ [ "chemodectomas", "chemodectomas" ] ], "xref": [ "MSH:D002345", "SNOMEDCT_US:127028003", "SNOMEDCT_US:30699005", "UMLS:C0007279" ], "is_a": [ "HP:0002668" ], "is_obsolete": "", "replace_id": "" }, "HP:0030075": { "name": [ "ductal carcinoma in situ", "ductal carcinoma in situ" ], "alt_id": [], "def": "Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer.", "synonym": [], "xref": [ "MSH:D002285", "SNOMEDCT_US:109889007", "SNOMEDCT_US:278053004", "SNOMEDCT_US:373176000", "SNOMEDCT_US:86616005", "UMLS:C0007124" ], "is_a": [ "HP:0100013" ], "is_obsolete": "", "replace_id": "" }, "HP:0030076": { "name": [ "lobular carcinoma in situ", "lobular carcinoma in situ" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D000071960", "SNOMEDCT_US:109888004", "UMLS:C0279563" ], "is_a": [ "HP:0100013" ], "is_obsolete": "", "replace_id": "" }, "HP:0030077": { "name": [ "bronchial neoplasm", "bronchial neoplasm" ], "alt_id": [], "def": "A tumor originating in a bronchus.", "synonym": [], "xref": [ "MSH:D001984", "NCIT:C3262", "SNOMEDCT_US:126705004", "UMLS:C0006264" ], "is_a": [ "HP:0025426", "HP:0100552" ], "is_obsolete": "", "replace_id": "" }, "HP:0030078": { "name": [ "lung adenocarcinoma", "lung adenocarcinoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C538231", "NCIT:C2852", "SNOMEDCT_US:254626006", "UMLS:C0152013" ], "is_a": [ "HP:0030358" ], "is_obsolete": "", "replace_id": "" }, "HP:0030079": { "name": [ "cervix cancer", "cervix cancer" ], "alt_id": [], "def": "A tumor of the uterine cervix.", "synonym": [], "xref": [ "MSH:D002583", "NCIT:C3262", "SNOMEDCT_US:363354003", "UMLS:C4048328" ], "is_a": [ "HP:0010784", "HP:0032241" ], "is_obsolete": "", "replace_id": "" }, "HP:0030080": { "name": [ "burkitt lymphoma", "burkitt lymphoma" ], "alt_id": [], "def": "A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass.", "synonym": [], "xref": [ "MSH:D002051", "SNOMEDCT_US:118617000", "SNOMEDCT_US:22197008", "SNOMEDCT_US:277571004", "SNOMEDCT_US:397400006", "SNOMEDCT_US:77381001", "UMLS:C0006413" ], "is_a": [ "HP:0012539" ], "is_obsolete": "", "replace_id": "" }, "HP:0030081": { "name": [ "punctate periventricular t2 hyperintense foci", "punctate periventricular t2 hyperintense focus" ], "alt_id": [], "def": "Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.", "synonym": [], "xref": [ "UMLS:C4022658" ], "is_a": [ "HP:0030891" ], "is_obsolete": "", "replace_id": "" }, "HP:0030082": { "name": [ "abnormal drinking behavior", "abnormal drinking behavior" ], "alt_id": [], "def": "Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.", "synonym": [ [ "abnormal drinking behavior", "abnormal drinking behavior" ], [ "abnormal drinking behaviour", "abnormal drinking behaviour" ] ], "xref": [ "UMLS:C4022657" ], "is_a": [ "HP:0040202" ], "is_obsolete": "", "replace_id": "" }, "HP:0030083": { "name": [ "salt craving", "salt crave" ], "alt_id": [], "def": "An excessive desire to eat salt (sodium chloride) or salty foods.", "synonym": [ [ "salt craving", "salt crave" ] ], "xref": [ "UMLS:C0240928" ], "is_a": [ "HP:0100738" ], "is_obsolete": "", "replace_id": "" }, "HP:0030084": { "name": [ "clinodactyly", "clinodactyly" ], "alt_id": [], "def": "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).", "synonym": [ [ "curvature of digit", "curvature of digit" ], [ "permanent curving of the finger", "permanent curving of the finger" ] ], "xref": [ "SNOMEDCT_US:17268007", "UMLS:C0265610", "UMLS:C4280304" ], "is_a": [ "HP:0011297" ], "is_obsolete": "", "replace_id": "" }, "HP:0030085": { "name": [ "abnormal csf lactate level", "abnormal csf lactate level" ], "alt_id": [], "def": "Abnormal concentration of lactate in the cerebrospinal fluid.", "synonym": [], "xref": [ "UMLS:C4022656" ], "is_a": [ "HP:0025454" ], "is_obsolete": "", "replace_id": "" }, "HP:0030086": { "name": [ "reduced csf lactate", "reduce csf lactate" ], "alt_id": [], "def": "Decreased concentration of lactate in the cerebrospinal fluid.", "synonym": [ [ "hypolactatorachia", "hypolactatorachia" ] ], "xref": [ "UMLS:C4022655" ], "is_a": [ "HP:0030085" ], "is_obsolete": "", "replace_id": "" }, "HP:0030087": { "name": [ "abnormal circulating testosterone concentration", "abnormal circulate testosterone concentration" ], "alt_id": [], "def": "An anomalous concentration of testosterone in the blood.", "synonym": [ [ "abnormal serum testosterone level", "abnormal serum testosterone level" ], [ "abnormal testosterone level", "abnormal testosterone level" ] ], "xref": [ "SNOMEDCT_US:166458009", "UMLS:C0580454", "UMLS:C4022654" ], "is_a": [ "HP:0030347" ], "is_obsolete": "", "replace_id": "" }, "HP:0030088": { "name": [ "increased serum testosterone level", "increase serum testosterone level" ], "alt_id": [], "def": "An elevated circulating testosterone level in the blood.", "synonym": [ [ "high serum testosterone level", "high serum testosterone level" ], [ "high serum testosterone levels", "high serum testosterone level" ], [ "increased serum testosterone levels", "increase serum testosterone level" ], [ "increased testosterone", "increase testosterone" ] ], "xref": [ "UMLS:C0241358", "UMLS:C4072885" ], "is_a": [ "HP:0030087", "HP:0030348" ], "is_obsolete": "", "replace_id": "" }, "HP:0030089": { "name": [ "abnormal muscle fiber protein expression", "abnormal muscle fiber protein expression" ], "alt_id": [], "def": "An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue.", "synonym": [ [ "abnormal muscle fibre protein expression", "abnormal muscle fibre protein expression" ] ], "xref": [ "UMLS:C4022653" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0030090": { "name": [ "abnormal muscle fiber merosin expression", "abnormal muscle fiber merosin expression" ], "alt_id": [], "def": "An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve.", "synonym": [ [ "abnormal muscle fibre merosin expression", "abnormal muscle fibre merosin expression" ] ], "xref": [ "UMLS:C4022652" ], "is_a": [ "HP:0030089" ], "is_obsolete": "", "replace_id": "" }, "HP:0030091": { "name": [ "absent muscle fiber merosin", "absent muscle fiber merosin" ], "alt_id": [], "def": "Lack of merosin protein in the muscle biopsy.", "synonym": [ [ "absent merosin staining in muscle biopsy", "absent merosin stain in muscle biopsy" ], [ "absent muscle fiber laminin alpha 2", "absent muscle fiber laminin alpha 2" ], [ "absent muscle fibre laminin alpha 2", "absent muscle fibre laminin alpha 2" ], [ "absent muscle fibre merosin", "absent muscle fibre merosin" ] ], "xref": [ "UMLS:C4021055" ], "is_a": [ "HP:0030090" ], "is_obsolete": "", "replace_id": "" }, "HP:0030092": { "name": [ "reduced muscle fiber merosin", "reduce muscle fiber merosin" ], "alt_id": [], "def": "A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue.", "synonym": [ [ "reduced muscle fibre merosin", "reduce muscle fibre merosin" ] ], "xref": [ "UMLS:C4022651" ], "is_a": [ "HP:0030090" ], "is_obsolete": "", "replace_id": "" }, "HP:0030093": { "name": [ "abnormal muscle fiber laminin beta 1", "abnormal muscle fiber laminin beta 1" ], "alt_id": [], "def": "A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.", "synonym": [ [ "abnormal muscle fibre laminin beta 1", "abnormal muscle fibre laminin beta 1" ] ], "xref": [ "UMLS:C4022650" ], "is_a": [ "HP:0030089" ], "is_obsolete": "", "replace_id": "" }, "HP:0030094": { "name": [ "reduced muscle fiber laminin beta 1", "reduce muscle fiber laminin beta 1" ], "alt_id": [], "def": "A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.", "synonym": [ [ "reduced muscle fibre laminin beta 1", "reduce muscle fibre laminin beta 1" ] ], "xref": [ "UMLS:C4022649" ], "is_a": [ "HP:0030093" ], "is_obsolete": "", "replace_id": "" }, "HP:0030095": { "name": [ "reduced muscle collagen vi", "reduce muscle collagen vi" ], "alt_id": [], "def": "A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle.", "synonym": [ [ "reduced collagen 6 in muscle", "reduce collagen 6 in muscle" ] ], "xref": [ "UMLS:C4021054" ], "is_a": [ "HP:0030089" ], "is_obsolete": "", "replace_id": "" }, "HP:0030096": { "name": [ "abnormal muscle fiber dystrophin expression", "abnormal muscle fiber dystrophin expression" ], "alt_id": [], "def": "A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina.", "synonym": [ [ "abnormal muscle fibre dystrophin expression", "abnormal muscle fibre dystrophin expression" ] ], "xref": [ "UMLS:C4022648" ], "is_a": [ "HP:0030089" ], "is_obsolete": "", "replace_id": "" }, "HP:0030097": { "name": [ "absent muscle dystrophin expression", "absent muscle dystrophin expression" ], "alt_id": [], "def": "Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy.", "synonym": [], "xref": [ "UMLS:C4022647" ], "is_a": [ "HP:0030096" ], "is_obsolete": "", "replace_id": "" }, "HP:0030098": { "name": [ "reduced muscle dystrophin expression", "reduce muscle dystrophin expression" ], "alt_id": [], "def": "A decreased amount of dystrophin in muscle fiber tissue.", "synonym": [ [ "reduced dystrophin staining in muscle", "reduce dystrophin staining in muscle" ] ], "xref": [ "UMLS:C4021053" ], "is_a": [ "HP:0030096" ], "is_obsolete": "", "replace_id": "" }, "HP:0030099": { "name": [ "reduced muscle fiber alpha dystroglycan", "reduce muscle fiber alpha dystroglycan" ], "alt_id": [], "def": "Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.", "synonym": [ [ "reduced muscle fibre alpha dystroglycan", "reduce muscle fibre alpha dystroglycan" ] ], "xref": [ "UMLS:C4022646" ], "is_a": [ "HP:0030112" ], "is_obsolete": "", "replace_id": "" }, "HP:0030100": { "name": [ "abnormal muscle fiber alpha sarcoglycan", "abnormal muscle fiber alpha sarcoglycan" ], "alt_id": [], "def": "Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.", "synonym": [ [ "abnormal muscle fibre alpha sarcoglycan", "abnormal muscle fibre alpha sarcoglycan" ] ], "xref": [ "UMLS:C4022645" ], "is_a": [ "HP:0030089" ], "is_obsolete": "", "replace_id": "" }, "HP:0030101": { "name": [ "absent muscle fiber alpha sarcoglycan", "absent muscle fiber alpha sarcoglycan" ], "alt_id": [], "def": "Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy.", "synonym": [ [ "absent muscle fibre alpha sarcoglycan", "absent muscle fibre alpha sarcoglycan" ] ], "xref": [ "UMLS:C4022644" ], "is_a": [ "HP:0030100" ], "is_obsolete": "", "replace_id": "" }, "HP:0030102": { "name": [ "reduced muscle fiber alpha sarcoglycan", "reduce muscle fiber alpha sarcoglycan" ], "alt_id": [], "def": "A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy.", "synonym": [ [ "reduced muscle fibre alpha sarcoglycan", "reduce muscle fibre alpha sarcoglycan" ] ], "xref": [ "UMLS:C4022643" ], "is_a": [ "HP:0030100" ], "is_obsolete": "", "replace_id": "" }, "HP:0030103": { "name": [ "abnormal muscle fiber beta sarcoglycan", "abnormal muscle fiber beta sarcoglycan" ], "alt_id": [], "def": "Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.", "synonym": [ [ "abnormal muscle fibre beta sarcoglycan", "abnormal muscle fibre beta sarcoglycan" ] ], "xref": [ "UMLS:C4022642" ], "is_a": [ "HP:0030089" ], "is_obsolete": "", "replace_id": "" }, "HP:0030104": { "name": [ "abnormal muscle fiber gamma sarcoglycan", "abnormal muscle fiber gamma sarcoglycan" ], "alt_id": [], "def": "Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.", "synonym": [ [ "abnormal muscle fibre gamma sarcoglycan", "abnormal muscle fibre gamma sarcoglycan" ] ], "xref": [ "UMLS:C4022641" ], "is_a": [ "HP:0030089" ], "is_obsolete": "", "replace_id": "" }, "HP:0030105": { "name": [ "abnormal muscle fiber delta sarcoglycan", "abnormal muscle fiber delta sarcoglycan" ], "alt_id": [], "def": "Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.", "synonym": [ [ "abnormal muscle fibre delta sarcoglycan", "abnormal muscle fibre delta sarcoglycan" ] ], "xref": [ "UMLS:C4022640" ], "is_a": [ "HP:0030089" ], "is_obsolete": "", "replace_id": "" }, "HP:0030106": { "name": [ "absent muscle fiber beta sarcoglycan", "absent muscle fiber beta sarcoglycan" ], "alt_id": [], "def": "Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy.", "synonym": [ [ "absent muscle fibre beta sarcoglycan", "absent muscle fibre beta sarcoglycan" ] ], "xref": [ "UMLS:C4022639" ], "is_a": [ "HP:0030103" ], "is_obsolete": "", "replace_id": "" }, "HP:0030107": { "name": [ "reduced muscle fiber beta sarcoglycan", "reduce muscle fiber beta sarcoglycan" ], "alt_id": [], "def": "Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy.", "synonym": [ [ "reduced muscle fibre beta sarcoglycan", "reduce muscle fibre beta sarcoglycan" ] ], "xref": [ "UMLS:C4022638" ], "is_a": [ "HP:0030103" ], "is_obsolete": "", "replace_id": "" }, "HP:0030108": { "name": [ "reduced muscle fiber gamma sarcoglycan", "reduce muscle fiber gamma sarcoglycan" ], "alt_id": [], "def": "Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy.", "synonym": [ [ "reduced muscle fibre gamma sarcoglycan", "reduce muscle fibre gamma sarcoglycan" ] ], "xref": [ "UMLS:C4022637" ], "is_a": [ "HP:0030104" ], "is_obsolete": "", "replace_id": "" }, "HP:0030109": { "name": [ "absent muscle fiber gamma sarcoglycan", "absent muscle fiber gamma sarcoglycan" ], "alt_id": [], "def": "Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy.", "synonym": [ [ "absent muscle fibre gamma sarcoglycan", "absent muscle fibre gamma sarcoglycan" ] ], "xref": [ "UMLS:C4022636" ], "is_a": [ "HP:0030104" ], "is_obsolete": "", "replace_id": "" }, "HP:0030110": { "name": [ "absent muscle fiber delta sarcoglycan", "absent muscle fiber delta sarcoglycan" ], "alt_id": [], "def": "Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy.", "synonym": [ [ "absent muscle fibre delta sarcoglycan", "absent muscle fibre delta sarcoglycan" ] ], "xref": [ "UMLS:C4022635" ], "is_a": [ "HP:0030105" ], "is_obsolete": "", "replace_id": "" }, "HP:0030111": { "name": [ "reduced muscle fiber delta sarcoglycan", "reduce muscle fiber delta sarcoglycan" ], "alt_id": [], "def": "Abnormally reduced amount of delta sarcoglycan in muscle.", "synonym": [ [ "reduced muscle fibre delta sarcoglycan", "reduce muscle fibre delta sarcoglycan" ] ], "xref": [ "UMLS:C4022634" ], "is_a": [ "HP:0030105" ], "is_obsolete": "", "replace_id": "" }, "HP:0030112": { "name": [ "abnormal muscle fiber alpha dystroglycan", "abnormal muscle fiber alpha dystroglycan" ], "alt_id": [], "def": "A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.", "synonym": [ [ "abnormal muscle fibre alpha dystroglycan", "abnormal muscle fibre alpha dystroglycan" ] ], "xref": [ "UMLS:C4022633" ], "is_a": [ "HP:0030089" ], "is_obsolete": "", "replace_id": "" }, "HP:0030113": { "name": [ "abnormal muscle fiber dysferlin", "abnormal muscle fiber dysferlin" ], "alt_id": [], "def": "A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing.", "synonym": [ [ "abnormal muscle fibre dysferlin", "abnormal muscle fibre dysferlin" ] ], "xref": [ "UMLS:C4022632" ], "is_a": [ "HP:0030089" ], "is_obsolete": "", "replace_id": "" }, "HP:0030114": { "name": [ "absent muscle fiber dysferlin", "absent muscle fiber dysferlin" ], "alt_id": [], "def": "Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.", "synonym": [ [ "absent muscle fibre dysferlin", "absent muscle fibre dysferlin" ] ], "xref": [ "UMLS:C4022631" ], "is_a": [ "HP:0030113" ], "is_obsolete": "", "replace_id": "" }, "HP:0030115": { "name": [ "reduced muscle fiber dysferlin", "reduce muscle fiber dysferlin" ], "alt_id": [], "def": "Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy.", "synonym": [ [ "reduced muscle fibre dysferlin", "reduce muscle fibre dysferlin" ] ], "xref": [ "UMLS:C4022630" ], "is_a": [ "HP:0030113" ], "is_obsolete": "", "replace_id": "" }, "HP:0030116": { "name": [ "abnormal muscle fiber emerin", "abnormal muscle fiber emerin" ], "alt_id": [], "def": "A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue.", "synonym": [ [ "abnormal muscle fibre emerin", "abnormal muscle fibre emerin" ] ], "xref": [ "UMLS:C4022629" ], "is_a": [ "HP:0030089" ], "is_obsolete": "", "replace_id": "" }, "HP:0030117": { "name": [ "absent muscle fiber emerin", "absent muscle fiber emerin" ], "alt_id": [], "def": "Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.", "synonym": [ [ "absent muscle fibre emerin", "absent muscle fibre emerin" ] ], "xref": [ "UMLS:C4022628" ], "is_a": [ "HP:0030116" ], "is_obsolete": "", "replace_id": "" }, "HP:0030118": { "name": [ "reduced muscle fiber emerin", "reduce muscle fiber emerin" ], "alt_id": [], "def": "Immunohistochemistry reveals reduced emerin protein in the muscle biopsy.", "synonym": [ [ "reduced muscle fibre emerin", "reduce muscle fibre emerin" ] ], "xref": [ "UMLS:C4022627" ], "is_a": [ "HP:0030116" ], "is_obsolete": "", "replace_id": "" }, "HP:0030119": { "name": [ "abnormal muscle fiber calpain - 3", "abnormal muscle fiber calpain - 3" ], "alt_id": [], "def": "A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates.", "synonym": [ [ "abnormal muscle fibre calpain - 3", "abnormal muscle fibre calpain - 3" ] ], "xref": [ "UMLS:C4022626" ], "is_a": [ "HP:0030089" ], "is_obsolete": "", "replace_id": "" }, "HP:0030120": { "name": [ "absent muscle fiber calpain - 3", "absent muscle fiber calpain - 3" ], "alt_id": [], "def": "Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.", "synonym": [ [ "absent muscle fibre calpain - 3", "absent muscle fibre calpain - 3" ] ], "xref": [ "UMLS:C4022625" ], "is_a": [ "HP:0030119" ], "is_obsolete": "", "replace_id": "" }, "HP:0030121": { "name": [ "reduced muscle fiber calpain - 3", "reduce muscle fiber calpain - 3" ], "alt_id": [], "def": "Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue.", "synonym": [ [ "reduced muscle fibre calpain - 3", "reduce muscle fibre calpain - 3" ] ], "xref": [ "UMLS:C4022624" ], "is_a": [ "HP:0030119" ], "is_obsolete": "", "replace_id": "" }, "HP:0030122": { "name": [ "reduced muscle fiber perlecan", "reduce muscle fiber perlecan" ], "alt_id": [], "def": "Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2).", "synonym": [ [ "reduced muscle fibre perlecan", "reduce muscle fibre perlecan" ] ], "xref": [ "UMLS:C4022623" ], "is_a": [ "HP:0030089" ], "is_obsolete": "", "replace_id": "" }, "HP:0030123": { "name": [ "abnormal muscle fiber lamin a / c", "abnormal muscle fiber lamin a / c" ], "alt_id": [], "def": "A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation.", "synonym": [ [ "abnormal muscle fibre lamin a / c", "abnormal muscle fibre lamin a / c" ] ], "xref": [ "UMLS:C4022622" ], "is_a": [ "HP:0030089" ], "is_obsolete": "", "replace_id": "" }, "HP:0030124": { "name": [ "reduced muscle fiber lamin a / c", "reduce muscle fiber lamin a / c" ], "alt_id": [], "def": "A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue.", "synonym": [ [ "reduced muscle fibre lamin a / c", "reduce muscle fibre lamin a / c" ] ], "xref": [ "UMLS:C4022621" ], "is_a": [ "HP:0030123" ], "is_obsolete": "", "replace_id": "" }, "HP:0030125": { "name": [ "sacralization of the fifth lumbar vertebra", "sacralization of the fifth lumbar vertebra" ], "alt_id": [], "def": "A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both.", "synonym": [ [ "l5 sacralization", "l5 sacralization" ] ], "xref": [ "UMLS:C4021052" ], "is_a": [ "HP:0002948" ], "is_obsolete": "", "replace_id": "" }, "HP:0030126": { "name": [ "abnormality of the endometrium", "abnormality of the endometrium" ], "alt_id": [], "def": "An anomaly of the inner mucous membrane of the uterus.", "synonym": [], "xref": [ "UMLS:C4022620" ], "is_a": [ "HP:0031105" ], "is_obsolete": "", "replace_id": "" }, "HP:0030127": { "name": [ "endometriosis", "endometriosis" ], "alt_id": [ "HP:0030013" ], "def": "The growth of endometrial tissue outside the uterus.", "synonym": [], "xref": [ "MSH:D004715", "SNOMEDCT_US:129103003", "SNOMEDCT_US:396224008", "UMLS:C0014175" ], "is_a": [ "HP:0030012", "HP:0030126" ], "is_obsolete": "", "replace_id": "" }, "HP:0030129": { "name": [ "impaired ristocetin cofactor assay activity", "impaired ristocetin cofactor assay activity" ], "alt_id": [], "def": "Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.", "synonym": [], "xref": [ "UMLS:C4022619" ], "is_a": [ "HP:0012146" ], "is_obsolete": "", "replace_id": "" }, "HP:0030130": { "name": [ "impaired von willibrand factor collagen binding activity", "impaired von willibrand factor collagen binding activity" ], "alt_id": [], "def": "Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers.", "synonym": [], "xref": [ "UMLS:C4022618" ], "is_a": [ "HP:0012146" ], "is_obsolete": "", "replace_id": "" }, "HP:0030131": { "name": [ "abnormal von willebrand factor multimer distribution", "abnormal von willebrand factor multimer distribution" ], "alt_id": [], "def": "Deviation from the normal von Willebrand factor multimer pattern.", "synonym": [], "xref": [ "UMLS:C4022617" ], "is_a": [ "HP:0012146" ], "is_obsolete": "", "replace_id": "" }, "HP:0030132": { "name": [ "absence of large von willibrand factor multimers", "absence of large von willibrand factor multimers" ], "alt_id": [], "def": "Absence of large von Willebrand Factor multimers on gel electrophoresis.", "synonym": [], "xref": [ "UMLS:C4022616" ], "is_a": [ "HP:0030131" ], "is_obsolete": "", "replace_id": "" }, "HP:0030133": { "name": [ "abnormal presence of ultra - large von willebrand factor multimers", "abnormal presence of ultra - large von willebrand factor multimers" ], "alt_id": [], "def": "Detection of abnormal ultra-large von Willebrand factor multimers.", "synonym": [], "xref": [ "UMLS:C4022615" ], "is_a": [ "HP:0030131" ], "is_obsolete": "", "replace_id": "" }, "HP:0030134": { "name": [ "total absence von willebrand factor multimers", "total absence von willebrand factor multimers" ], "alt_id": [], "def": "Complete absence of all von Willebrand factor multimers.", "synonym": [], "xref": [ "UMLS:C4022614" ], "is_a": [ "HP:0030131" ], "is_obsolete": "", "replace_id": "" }, "HP:0030135": { "name": [ "absence of intermediate von willibrand factor multimers", "absence of intermediate von willibrand factor multimers" ], "alt_id": [], "def": "Lack of intermediate von Willebrand Factor multimers on gel electrophoresis.", "synonym": [], "xref": [ "UMLS:C4022613" ], "is_a": [ "HP:0030131" ], "is_obsolete": "", "replace_id": "" }, "HP:0030136": { "name": [ "enhanced ristocetin cofactor assay activity", "enhance ristocetin cofactor assay activity" ], "alt_id": [], "def": "Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma.", "synonym": [], "xref": [ "UMLS:C4022612" ], "is_a": [ "HP:0012146" ], "is_obsolete": "", "replace_id": "" }, "HP:0030137": { "name": [ "prolonged bleeding following circumcision", "prolonged bleeding follow circumcision" ], "alt_id": [], "def": "Bleeding that persists for a longer than usual time following circumcision.", "synonym": [ [ "prolonged bleeding following circumcision", "prolonged bleeding follow circumcision" ] ], "xref": [ "UMLS:C4022611" ], "is_a": [ "HP:0011890" ], "is_obsolete": "", "replace_id": "" }, "HP:0030138": { "name": [ "excessive bleeding from superficial cuts", "excessive bleeding from superficial cut" ], "alt_id": [], "def": "An abnormally increased degree of bleeding following a superfical injury to the surface of the skin.", "synonym": [ [ "excessive bleeding from superficial cuts", "excessive bleeding from superficial cut" ] ], "xref": [ "UMLS:C4022610" ], "is_a": [ "HP:0001892" ], "is_obsolete": "", "replace_id": "" }, "HP:0030139": { "name": [ "excessive bleeding after a venipuncture", "excessive bleeding after a venipuncture" ], "alt_id": [], "def": "An abnormal high amount of bleeding following the procedure of taking a blood sample.", "synonym": [], "xref": [ "UMLS:C4022609" ], "is_a": [ "HP:0001892" ], "is_obsolete": "", "replace_id": "" }, "HP:0030140": { "name": [ "oral cavity bleeding", "oral cavity bleeding" ], "alt_id": [], "def": "Recurrent or excessive bleeding from the mouth.", "synonym": [ [ "bleeding from mouth", "bleed from mouth" ], [ "oral cavity bleeding", "oral cavity bleeding" ], [ "oral cavity haemorrhage", "oral cavity haemorrhage" ], [ "oral cavity hemorrhage", "oral cavity hemorrhage" ] ], "xref": [ "UMLS:C4022608" ], "is_a": [ "HP:0001892", "HP:0031815" ], "is_obsolete": "", "replace_id": "" }, "HP:0030141": { "name": [ "abnormality of the posterior hairline", "abnormality of the posterior hairline" ], "alt_id": [], "def": "An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.", "synonym": [ [ "abnormality of hairline at back of head", "abnormality of hairline at back of head" ] ], "xref": [ "UMLS:C4022607" ], "is_a": [ "HP:0009553" ], "is_obsolete": "", "replace_id": "" }, "HP:0030142": { "name": [ "abnormal bowel sounds", "abnormal bowel sound" ], "alt_id": [], "def": "An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.", "synonym": [ [ "abnormal bowel sounds", "abnormal bowel sound" ] ], "xref": [ "SNOMEDCT_US:60612008", "UMLS:C0159060" ], "is_a": [ "HP:0011458" ], "is_obsolete": "", "replace_id": "" }, "HP:0030143": { "name": [ "hyperactive bowel sounds", "hyperactive bowel sound" ], "alt_id": [], "def": "Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.", "synonym": [ [ "borborygmi", "borborygmi" ], [ "increased bowel sounds", "increase bowel sound" ] ], "xref": [ "SNOMEDCT_US:18101008", "UMLS:C0232694" ], "is_a": [ "HP:0030142" ], "is_obsolete": "", "replace_id": "" }, "HP:0030144": { "name": [ "hypoactive bowel sounds", "hypoactive bowel sound" ], "alt_id": [], "def": "An decreased amount of bowel sounds.", "synonym": [ [ "decreased bowel sounds", "decrease bowel sound" ] ], "xref": [ "SNOMEDCT_US:15280003", "UMLS:C0232695" ], "is_a": [ "HP:0030142" ], "is_obsolete": "", "replace_id": "" }, "HP:0030145": { "name": [ "lack of bowel sounds", "lack of bowel sound" ], "alt_id": [], "def": "Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.", "synonym": [ [ "lack of bowel sounds", "lack of bowel sound" ] ], "xref": [ "UMLS:C4022606" ], "is_a": [ "HP:0030142" ], "is_obsolete": "", "replace_id": "" }, "HP:0030146": { "name": [ "abnormal liver parenchyma morphology", "abnormal liver parenchyma morphology" ], "alt_id": [], "def": "A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.", "synonym": [], "xref": [ "UMLS:C4022605" ], "is_a": [ "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0030147": { "name": [ "truncal titubation", "truncal titubation" ], "alt_id": [], "def": "Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.", "synonym": [], "xref": [ "UMLS:C2674512" ], "is_a": [ "HP:0030187" ], "is_obsolete": "", "replace_id": "" }, "HP:0030148": { "name": [ "heart murmur", "heart murmur" ], "alt_id": [], "def": "An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.", "synonym": [ [ "cardiac murmur", "cardiac murmur" ], [ "cardiac murmurs", "cardiac murmur" ], [ "heart murmur", "heart murmur" ], [ "heart murmurs", "heart murmur" ] ], "xref": [ "MSH:D006337", "SNOMEDCT_US:414786004", "SNOMEDCT_US:421493004", "SNOMEDCT_US:88610006", "UMLS:C0018808" ], "is_a": [ "HP:0031657" ], "is_obsolete": "", "replace_id": "" }, "HP:0030149": { "name": [ "cardiogenic shock", "cardiogenic shock" ], "alt_id": [], "def": "Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume.", "synonym": [ [ "cardiovascular shock", "cardiovascular shock" ] ], "xref": [ "MSH:D012770", "SNOMEDCT_US:89138009", "UMLS:C0036980" ], "is_a": [ "HP:0031273" ], "is_obsolete": "", "replace_id": "" }, "HP:0030150": { "name": [ "plasmacytosis", "plasmacytosis" ], "alt_id": [], "def": "An abnormally increased number of plasma cells in tissues, exudates, or blood", "synonym": [], "xref": [ "UMLS:C0549295" ], "is_a": [ "HP:0004332" ], "is_obsolete": "", "replace_id": "" }, "HP:0030151": { "name": [ "cholangitis", "cholangitis" ], "alt_id": [], "def": "Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.", "synonym": [ [ "bile duct inflammation", "bile duct inflammation" ] ], "xref": [ "MSH:D002761", "SNOMEDCT_US:82403002", "UMLS:C0008311" ], "is_a": [ "HP:0012440", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0030152": { "name": [ "obsolete biliary tract neoplasm", "obsolete biliary tract neoplasm" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0100574" }, "HP:0030153": { "name": [ "cholangiocarcinoma", "cholangiocarcinoma" ], "alt_id": [], "def": "Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension.", "synonym": [ [ "bile duct cancer", "bile duct cancer" ] ], "xref": [ "MSH:D018281", "NCIT:C3262", "SNOMEDCT_US:312104005", "SNOMEDCT_US:70179006", "UMLS:C0206698" ], "is_a": [ "HP:0100574" ], "is_obsolete": "", "replace_id": "" }, "HP:0030154": { "name": [ "gallbladder perforation", "gallbladder perforation" ], "alt_id": [], "def": "Rupture of the wall of the gallbladder.", "synonym": [ [ "gall bladder perforation", "gall bladder perforation" ] ], "xref": [ "SNOMEDCT_US:25345001", "UMLS:C0156215" ], "is_a": [ "HP:0012437" ], "is_obsolete": "", "replace_id": "" }, "HP:0030155": { "name": [ "scrotal pain", "scrotal pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum.", "synonym": [ [ "scrotal pain", "scrotal pain" ] ], "xref": [ "SNOMEDCT_US:20502007", "UMLS:C0236078" ], "is_a": [ "HP:0000045", "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0030156": { "name": [ "bence jones proteinuria", "bence jones proteinuria" ], "alt_id": [], "def": "The presence of free monoclonal immunoglobulin light chains in the urine.", "synonym": [], "xref": [ "SNOMEDCT_US:274771005", "UMLS:C0004968" ], "is_a": [ "HP:0020129" ], "is_obsolete": "", "replace_id": "" }, "HP:0030157": { "name": [ "flank pain", "flank pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.", "synonym": [ [ "flank pain", "flank pain" ], [ "kidney pain", "kidney pain" ] ], "xref": [ "MSH:D021501", "SNOMEDCT_US:247355005", "UMLS:C0016199" ], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0030158": { "name": [ "cervical ectropion", "cervical ectropion" ], "alt_id": [], "def": "Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu", "synonym": [ [ "cervical ectopy", "cervical ectopy" ], [ "cervical erosion", "cervical erosion" ] ], "xref": [ "MSH:D002579", "SNOMEDCT_US:61253004", "SNOMEDCT_US:79342006", "UMLS:C0007869", "UMLS:C0269189" ], "is_a": [ "HP:0012888" ], "is_obsolete": "", "replace_id": "" }, "HP:0030159": { "name": [ "cervical polyp", "cervical polyp" ], "alt_id": [], "def": "Abnormal growth of tissue projecting from a mucous membrane of the endocervix.", "synonym": [ [ "cervical tumor", "cervical tumor" ], [ "cervical tumour", "cervical tumour" ] ], "xref": [ "MSH:D002583", "SNOMEDCT_US:123841004", "SNOMEDCT_US:65576009", "UMLS:C0007855", "UMLS:C0007873" ], "is_a": [ "HP:0012888" ], "is_obsolete": "", "replace_id": "" }, "HP:0030160": { "name": [ "cervicitis", "cervicitis" ], "alt_id": [], "def": "Inflammation of the uterine cervix.", "synonym": [ [ "uterine cervicitis", "uterine cervicitis" ], [ "uterine cervix inflammation", "uterine cervix inflammation" ] ], "xref": [ "MSH:D002575", "SNOMEDCT_US:37610005", "UMLS:C0007860" ], "is_a": [ "HP:0012888" ], "is_obsolete": "", "replace_id": "" }, "HP:0030161": { "name": [ "vaginal pruritus", "vaginal pruritus" ], "alt_id": [], "def": "A sensation of itching in the vagina.", "synonym": [], "xref": [ "SNOMEDCT_US:34363003", "UMLS:C0042256" ], "is_a": [ "HP:0000142", "HP:0000989" ], "is_obsolete": "", "replace_id": "" }, "HP:0030162": { "name": [ "glomerulomegaly", "glomerulomegaly" ], "alt_id": [], "def": "Abnormally large size of glomeruli.", "synonym": [], "xref": [ "UMLS:C4022604" ], "is_a": [ "HP:0000095" ], "is_obsolete": "", "replace_id": "" }, "HP:0030163": { "name": [ "abnormal vascular physiology", "abnormal vascular physiology" ], "alt_id": [], "def": "Abnormality of vascular function.", "synonym": [], "xref": [ "UMLS:C4022603" ], "is_a": [ "HP:0002597", "HP:0011025" ], "is_obsolete": "", "replace_id": "" }, "HP:0030164": { "name": [ "jaw claudication", "jaw claudication" ], "alt_id": [], "def": "Pain in the jaw or ear induced by chewing or otherwise moving the jaw.", "synonym": [ [ "jaw pain while chewing", "jaw pain while chew" ] ], "xref": [ "SNOMEDCT_US:43922008", "UMLS:C0239064" ], "is_a": [ "HP:0025323" ], "is_obsolete": "", "replace_id": "" }, "HP:0030165": { "name": [ "temporal artery tortuosity", "temporal artery tortuosity" ], "alt_id": [], "def": "The presence of an increased number of twists and turns of the temporal artery.", "synonym": [], "xref": [ "UMLS:C4022602" ], "is_a": [ "HP:0005116" ], "is_obsolete": "", "replace_id": "" }, "HP:0030166": { "name": [ "night sweats", "night sweat" ], "alt_id": [], "def": "Occurrence of excessive sweating during sleep.", "synonym": [ [ "night sweats", "night sweat" ], [ "nocturnal hyperhidrosis", "nocturnal hyperhidrosis" ] ], "xref": [ "SNOMEDCT_US:42984000", "UMLS:C0028081" ], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0030167": { "name": [ "antimitochondrial antibody positivity", "antimitochondrial antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria.", "synonym": [ [ "serum antimitochrondrial antibodies", "serum antimitochrondrial antibody" ] ], "xref": [ "UMLS:C4021051" ], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0030168": { "name": [ "dilated superficial abdominal veins", "dilate superficial abdominal vein" ], "alt_id": [], "def": "Increase in diameter of the veins located underneath the skin of the abdomen.", "synonym": [ [ "dilatation of the superficial abdominal veins", "dilatation of the superficial abdominal vein" ] ], "xref": [ "UMLS:C4021050" ], "is_a": [ "HP:0001015" ], "is_obsolete": "", "replace_id": "" }, "HP:0030169": { "name": [ "gastric varix", "gastric varix" ], "alt_id": [], "def": "Extreme dilation of the submucusoal veins in the stomach.", "synonym": [ [ "gastric varices", "gastric varix" ] ], "xref": [ "MSH:D004932", "SNOMEDCT_US:91109007", "UMLS:C0017145" ], "is_a": [ "HP:0002577" ], "is_obsolete": "", "replace_id": "" }, "HP:0030170": { "name": [ "cystic artery pseudoaneurysm", "cystic artery pseudoaneurysm" ], "alt_id": [], "def": "Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue.", "synonym": [], "xref": [ "UMLS:C4022601" ], "is_a": [ "HP:0012437" ], "is_obsolete": "", "replace_id": "" }, "HP:0030171": { "name": [ "perirenal hematoma", "perirenal hematoma" ], "alt_id": [], "def": "A collection of clotted blood surrounding the kidney.", "synonym": [], "xref": [ "SNOMEDCT_US:197824007", "UMLS:C0473124" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0030172": { "name": [ "peripheral amyelination", "peripheral amyelination" ], "alt_id": [], "def": "Congenital absence of the myelin sheath on a nerve.", "synonym": [], "xref": [ "UMLS:C4022600" ], "is_a": [ "HP:0003130" ], "is_obsolete": "", "replace_id": "" }, "HP:0030173": { "name": [ "peripheral hypermyelination", "peripheral hypermyelination" ], "alt_id": [], "def": "Increased amount of peripheral myelination.", "synonym": [ [ "increased peripheral myelination", "increase peripheral myelination" ] ], "xref": [ "UMLS:C4021049" ], "is_a": [ "HP:0003130" ], "is_obsolete": "", "replace_id": "" }, "HP:0030174": { "name": [ "increased peripheral myelin thickness", "increase peripheral myelin thickness" ], "alt_id": [], "def": "Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.", "synonym": [], "xref": [ "UMLS:C4022599" ], "is_a": [ "HP:0030173" ], "is_obsolete": "", "replace_id": "" }, "HP:0030175": { "name": [ "myelin tomacula", "myelin tomacula" ], "alt_id": [], "def": "The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).", "synonym": [ [ "tomacula", "tomacula" ] ], "xref": [ "UMLS:C4020904" ], "is_a": [ "HP:0030173" ], "is_obsolete": "", "replace_id": "" }, "HP:0030176": { "name": [ "asymmetric peripheral demyelination", "asymmetric peripheral demyelination" ], "alt_id": [], "def": "Loss of myelin from peripheral nerves in a pattern that differs between right and left.", "synonym": [], "xref": [ "UMLS:C4022598" ], "is_a": [ "HP:0011096" ], "is_obsolete": "", "replace_id": "" }, "HP:0030177": { "name": [ "abnormality of peripheral nervous system electrophysiology", "abnormality of peripheral nervous system electrophysiology" ], "alt_id": [], "def": "An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles.", "synonym": [ [ "abnormal nerve conduction study", "abnormal nerve conduction study" ] ], "xref": [ "UMLS:C0853150" ], "is_a": [ "HP:0001311", "HP:0032120" ], "is_obsolete": "", "replace_id": "" }, "HP:0030178": { "name": [ "abnormality of central nervous system electrophysiology", "abnormality of central nervous system electrophysiology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of cns electrophysiology", "abnormality of cns electrophysiology" ] ], "xref": [ "UMLS:C4022597" ], "is_a": [ "HP:0001311" ], "is_obsolete": "", "replace_id": "" }, "HP:0030179": { "name": [ "abnormal peripheral action potential amplitude", "abnormal peripheral action potential amplitude" ], "alt_id": [], "def": "An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve.", "synonym": [], "xref": [ "UMLS:C4022596" ], "is_a": [ "HP:0003134" ], "is_obsolete": "", "replace_id": "" }, "HP:0030180": { "name": [ "oppenheim reflex", "oppenheim reflex" ], "alt_id": [], "def": "Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe).", "synonym": [ [ "oppenheim sign", "oppenheim sign" ] ], "xref": [ "SNOMEDCT_US:414949005", "UMLS:C1532837" ], "is_a": [ "HP:0007256" ], "is_obsolete": "", "replace_id": "" }, "HP:0030181": { "name": [ "gordon reflex", "gordon reflex" ], "alt_id": [], "def": "Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe).", "synonym": [ [ "gordon sign", "gordon sign" ] ], "xref": [ "UMLS:C4021048" ], "is_a": [ "HP:0007256" ], "is_obsolete": "", "replace_id": "" }, "HP:0030182": { "name": [ "tetraplegia / tetraparesis", "tetraplegia / tetraparesis" ], "alt_id": [], "def": "Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.", "synonym": [], "xref": [ "UMLS:C4022595" ], "is_a": [ "HP:0010549" ], "is_obsolete": "", "replace_id": "" }, "HP:0030183": { "name": [ "impaired visually enhanced vestibulo - ocular reflex", "impair visually enhance vestibulo - ocular reflex" ], "alt_id": [], "def": "The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR).", "synonym": [ [ "visually enhanced vestibulo - ocular reflex impairment", "visually enhance vestibulo - ocular reflex impairment" ], [ "vvor impairment", "vvor impairment" ] ], "xref": [ "UMLS:C4021047" ], "is_a": [ "HP:0007670" ], "is_obsolete": "", "replace_id": "" }, "HP:0030185": { "name": [ "isometric tremor", "isometric tremor" ], "alt_id": [], "def": "An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist).", "synonym": [ [ "dystonia tremor", "dystonia tremor" ] ], "xref": [ "UMLS:C4022594", "UMLS:C4280303" ], "is_a": [ "HP:0002345" ], "is_obsolete": "", "replace_id": "" }, "HP:0030186": { "name": [ "kinetic tremor", "kinetic tremor" ], "alt_id": [], "def": "Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.", "synonym": [ [ "essential tremor", "essential tremor" ] ], "xref": [ "MSH:D014202", "MSH:D020329", "SNOMEDCT_US:30721006", "SNOMEDCT_US:609558009", "UMLS:C0234376", "UMLS:C0270736" ], "is_a": [ "HP:0002345" ], "is_obsolete": "", "replace_id": "" }, "HP:0030187": { "name": [ "titubation", "titubation" ], "alt_id": [], "def": "Nodding movement of the head or body.", "synonym": [], "xref": [ "SNOMEDCT_US:78691002", "UMLS:C0231690" ], "is_a": [ "HP:0002345" ], "is_obsolete": "", "replace_id": "" }, "HP:0030188": { "name": [ "tremor by anatomical site", "tremor by anatomical site" ], "alt_id": [], "def": "Tremor classified by the affected body part.", "synonym": [ [ "tremor of a body part", "tremor of a body part" ] ], "xref": [ "UMLS:C4022593" ], "is_a": [ "HP:0001337" ], "is_obsolete": "", "replace_id": "" }, "HP:0030190": { "name": [ "oral motor hypotonia", "oral motor hypotonia" ], "alt_id": [], "def": "Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.", "synonym": [], "xref": [ "UMLS:C4022592" ], "is_a": [ "HP:0001252" ], "is_obsolete": "", "replace_id": "" }, "HP:0030191": { "name": [ "abnormal peripheral nervous system synaptic transmission", "abnormal peripheral nervous system synaptic transmission" ], "alt_id": [], "def": "An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.", "synonym": [ [ "abnormal pns synaptic transmission", "abnormal pns synaptic transmission" ] ], "xref": [ "UMLS:C4021046" ], "is_a": [ "HP:0012535" ], "is_obsolete": "", "replace_id": "" }, "HP:0030192": { "name": [ "fatigable weakness of bulbar muscles", "fatigable weakness of bulbar muscle" ], "alt_id": [], "def": "A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.", "synonym": [], "xref": [ "UMLS:C4022591" ], "is_a": [ "HP:0003473" ], "is_obsolete": "", "replace_id": "" }, "HP:0030193": { "name": [ "fatigable weakness of chewing muscles", "fatigable weakness of chew muscle" ], "alt_id": [], "def": "A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.", "synonym": [], "xref": [ "UMLS:C4022590" ], "is_a": [ "HP:0030192" ], "is_obsolete": "", "replace_id": "" }, "HP:0030194": { "name": [ "fatigable weakness of speech muscles", "fatigable weakness of speech muscle" ], "alt_id": [], "def": "A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.", "synonym": [], "xref": [ "UMLS:C4022589" ], "is_a": [ "HP:0030192" ], "is_obsolete": "", "replace_id": "" }, "HP:0030195": { "name": [ "fatigable weakness of swallowing muscles", "fatigable weakness of swallow muscle" ], "alt_id": [], "def": "A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.", "synonym": [], "xref": [ "UMLS:C4022588" ], "is_a": [ "HP:0030192" ], "is_obsolete": "", "replace_id": "" }, "HP:0030196": { "name": [ "fatigable weakness of respiratory muscles", "fatigable weakness of respiratory muscle" ], "alt_id": [], "def": "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.", "synonym": [], "xref": [ "UMLS:C4022587" ], "is_a": [ "HP:0003473" ], "is_obsolete": "", "replace_id": "" }, "HP:0030197": { "name": [ "fatigable weakness of skeletal muscles", "fatigable weakness of skeletal muscle" ], "alt_id": [], "def": "A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.", "synonym": [], "xref": [ "UMLS:C4022586" ], "is_a": [ "HP:0003473" ], "is_obsolete": "", "replace_id": "" }, "HP:0030198": { "name": [ "fatigable weakness of distal limb muscles", "fatigable weakness of distal limb muscle" ], "alt_id": [], "def": "A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.", "synonym": [], "xref": [ "UMLS:C4022585" ], "is_a": [ "HP:0030197" ], "is_obsolete": "", "replace_id": "" }, "HP:0030199": { "name": [ "fatigable weakness of neck muscles", "fatigable weakness of neck muscle" ], "alt_id": [], "def": "A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.", "synonym": [], "xref": [ "UMLS:C4022584" ], "is_a": [ "HP:0030197" ], "is_obsolete": "", "replace_id": "" }, "HP:0030200": { "name": [ "fatiguable weakness of proximal limb muscles", "fatiguable weakness of proximal limb muscle" ], "alt_id": [], "def": "A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.", "synonym": [], "xref": [ "UMLS:C4022583" ], "is_a": [ "HP:0030197" ], "is_obsolete": "", "replace_id": "" }, "HP:0030201": { "name": [ "response to drugs acting on neuromuscular transmission", "response to drug act on neuromuscular transmission" ], "alt_id": [], "def": "Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis.", "synonym": [], "xref": [ "UMLS:C4022582" ], "is_a": [ "HP:0030191" ], "is_obsolete": "", "replace_id": "" }, "HP:0030202": { "name": [ "favorable response of weakness to acetylcholine esterase inhibitors", "favorable response of weakness to acetylcholine esterase inhibitor" ], "alt_id": [], "def": "Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.", "synonym": [ [ "favourable response of weakness to acetylcholine esterase inhibitors", "favourable response of weakness to acetylcholine esterase inhibitor" ] ], "xref": [ "UMLS:C4022581" ], "is_a": [ "HP:0030201" ], "is_obsolete": "", "replace_id": "" }, "HP:0030203": { "name": [ "unfavorable response of muscle weakness to acetylcholine esterase inhibitors", "unfavorable response of muscle weakness to acetylcholine esterase inhibitor" ], "alt_id": [], "def": "Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.", "synonym": [ [ "unfavourable response of muscle weakness to acetylcholine esterase inhibitors", "unfavourable response of muscle weakness to acetylcholine esterase inhibitor" ] ], "xref": [ "UMLS:C4022580" ], "is_a": [ "HP:0030201" ], "is_obsolete": "", "replace_id": "" }, "HP:0030205": { "name": [ "increased jitter at single fiber emg", "increase jitter at single fiber emg" ], "alt_id": [], "def": "The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG).", "synonym": [ [ "increased jitter at single fibre electromyography", "increase jitter at single fibre electromyography" ], [ "increased jitter at single fibre emg", "increase jitter at single fibre emg" ] ], "xref": [ "UMLS:C4021045" ], "is_a": [ "HP:0030006" ], "is_obsolete": "", "replace_id": "" }, "HP:0030206": { "name": [ "emg : incremental response of compound muscle action potential to repetitive nerve stimulation", "emg : incremental response of compound muscle action potential to repetitive nerve stimulation" ], "alt_id": [], "def": "A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation.", "synonym": [], "xref": [ "UMLS:C4022579" ], "is_a": [ "HP:0100285" ], "is_obsolete": "", "replace_id": "" }, "HP:0030207": { "name": [ "paradoxical respiration", "paradoxical respiration" ], "alt_id": [], "def": "Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing.", "synonym": [ [ "flail chest", "flail chest" ], [ "paradoxical breathing", "paradoxical breathing" ] ], "xref": [ "MSH:D005409", "SNOMEDCT_US:12025005", "SNOMEDCT_US:78011002", "UMLS:C0016196", "UMLS:C0231852" ], "is_a": [ "HP:0002793" ], "is_obsolete": "", "replace_id": "" }, "HP:0030208": { "name": [ "acetylcholine receptor antibody positivity", "acetylcholine receptor antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against the acetylcholine receptor.", "synonym": [], "xref": [ "UMLS:C4022578" ], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0030209": { "name": [ "calcium channel antibody positivity", "calcium channel antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.", "synonym": [ [ "ca channel antibody positivity", "ca channel antibody positivity" ], [ "ca2+ channel antibody positivity", "ca2+ channel antibody positivity" ] ], "xref": [ "UMLS:C4022577" ], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0030210": { "name": [ "muscle specific kinase antibody positivity", "muscle specific kinase antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab).", "synonym": [ [ "anti - musk antibodies", "anti - musk antibody" ] ], "xref": [ "UMLS:C4021044" ], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0030211": { "name": [ "slow pupillary light response", "slow pupillary light response" ], "alt_id": [], "def": "Reduced velocity and acceleration in the pupillary light response.", "synonym": [], "xref": [ "UMLS:C4022576" ], "is_a": [ "HP:0007695" ], "is_obsolete": "", "replace_id": "" }, "HP:0030212": { "name": [ "collectionism", "collectionism" ], "alt_id": [], "def": "Excessive or pathological tendency to save and collect possessions.", "synonym": [ [ "compulsive hoarding", "compulsive hoarding" ] ], "xref": [ "SNOMEDCT_US:247968005", "UMLS:C0424290" ], "is_a": [ "HP:0000722" ], "is_obsolete": "", "replace_id": "" }, "HP:0030213": { "name": [ "emotional blunting", "emotional blunting" ], "alt_id": [], "def": "Lack of emotional reactivity and empathy for situations or persons, sometime also for family members.", "synonym": [], "xref": [ "SNOMEDCT_US:6140007", "UMLS:C0233469" ], "is_a": [ "HP:0100851" ], "is_obsolete": "", "replace_id": "" }, "HP:0030214": { "name": [ "hypersexuality", "hypersexuality" ], "alt_id": [], "def": "Pathological persistent sexual disinhibiting behavior, directed at oneself or to others.", "synonym": [ [ "sex addiction", "sex addiction" ] ], "xref": [ "SNOMEDCT_US:73744004", "UMLS:C0312420", "UMLS:C0679145" ], "is_a": [ "HP:0008768" ], "is_obsolete": "", "replace_id": "" }, "HP:0030215": { "name": [ "inappropriate crying", "inappropriate cry" ], "alt_id": [], "def": "Uncontrolled episodes of crying, without apparent motivating stimuli.", "synonym": [ [ "inappropriate crying", "inappropriate cry" ] ], "xref": [ "UMLS:C0860609" ], "is_a": [ "HP:0000719" ], "is_obsolete": "", "replace_id": "" }, "HP:0030216": { "name": [ "inertia", "inertia" ], "alt_id": [], "def": "Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).", "synonym": [], "xref": [ "UMLS:C4022575" ], "is_a": [ "HP:0000745" ], "is_obsolete": "", "replace_id": "" }, "HP:0030217": { "name": [ "limb apraxia", "limb apraxia" ], "alt_id": [], "def": "Difficulty in performing the correct execution of limbs movements in absence of motor impairment.", "synonym": [], "xref": [ "UMLS:C4022574" ], "is_a": [ "HP:0002186" ], "is_obsolete": "", "replace_id": "" }, "HP:0030218": { "name": [ "punding", "punding" ], "alt_id": [], "def": "Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.", "synonym": [], "xref": [ "UMLS:C1963933" ], "is_a": [ "HP:0000733" ], "is_obsolete": "", "replace_id": "" }, "HP:0030219": { "name": [ "semantic dementia", "semantic dementia" ], "alt_id": [], "def": "A progressive loss of the ability to remember the meaning of words, faces and objects.", "synonym": [ [ "trouble remembering words", "trouble remember word" ] ], "xref": [ "MSH:D057180", "SNOMEDCT_US:230288001", "UMLS:C0338462" ], "is_a": [ "HP:0002145" ], "is_obsolete": "", "replace_id": "" }, "HP:0030220": { "name": [ "socially inappropriate behavior", "socially inappropriate behavior" ], "alt_id": [], "def": "Behavior that is not in line with social norms.", "synonym": [ [ "socially inappropriate behavior", "socially inappropriate behavior" ], [ "socially inappropriate behaviour", "socially inappropriate behaviour" ] ], "xref": [ "UMLS:C2220010" ], "is_a": [ "HP:0000719" ], "is_obsolete": "", "replace_id": "" }, "HP:0030221": { "name": [ "sweet craving", "sweet crave" ], "alt_id": [], "def": "Excessive desire to eat sweet foods.", "synonym": [ [ "sweet craving", "sweet crave" ] ], "xref": [ "UMLS:C0241314" ], "is_a": [ "HP:0100738" ], "is_obsolete": "", "replace_id": "" }, "HP:0030222": { "name": [ "visual agnosia", "visual agnosia" ], "alt_id": [], "def": "Difficulty in recognizing objects by visual input in absence of sensorial visual impairment.", "synonym": [], "xref": [ "MSH:D000377", "SNOMEDCT_US:25762009", "UMLS:C0234502" ], "is_a": [ "HP:0010524" ], "is_obsolete": "", "replace_id": "" }, "HP:0030223": { "name": [ "perseveration", "perseveration" ], "alt_id": [], "def": "Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact.", "synonym": [ [ "perseverative behavior", "perseverative behavior" ], [ "perseverative behaviour", "perseverative behaviour" ] ], "xref": [ "SNOMEDCT_US:44515000", "UMLS:C0233651" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0030224": { "name": [ "abnormal muscle fiber desmin", "abnormal muscle fiber desmin" ], "alt_id": [], "def": "A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein.", "synonym": [ [ "abnormal muscle fibre desmin", "abnormal muscle fibre desmin" ] ], "xref": [ "UMLS:C4022573" ], "is_a": [ "HP:0030089" ], "is_obsolete": "", "replace_id": "" }, "HP:0030225": { "name": [ "accumulation of muscle fiber desmin", "accumulation of muscle fiber desmin" ], "alt_id": [], "def": "Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy.", "synonym": [ [ "accumulation of muscle fibre desmin", "accumulation of muscle fibre desmin" ], [ "muscle fiber desmin - reactive inclusion bodies", "muscle fiber desmin - reactive inclusion body" ], [ "muscle fibre desmin - reactive inclusion bodies", "muscle fibre desmin - reactive inclusion body" ] ], "xref": [ "UMLS:C4021043" ], "is_a": [ "HP:0030224" ], "is_obsolete": "", "replace_id": "" }, "HP:0030226": { "name": [ "abnormal muscle fiber myotilin", "abnormal muscle fiber myotilin" ], "alt_id": [], "def": "A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein.", "synonym": [ [ "abnormal muscle fibre myotilin", "abnormal muscle fibre myotilin" ] ], "xref": [ "UMLS:C4022572" ], "is_a": [ "HP:0030089" ], "is_obsolete": "", "replace_id": "" }, "HP:0030227": { "name": [ "accumulation of muscle fiber myotilin", "accumulation of muscle fiber myotilin" ], "alt_id": [], "def": "Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy.", "synonym": [ [ "accumulation of muscle fibre myotilin", "accumulation of muscle fibre myotilin" ] ], "xref": [ "UMLS:C4022571" ], "is_a": [ "HP:0030226" ], "is_obsolete": "", "replace_id": "" }, "HP:0030228": { "name": [ "abnormal muscle fiber valosin - containing protein", "abnormal muscle fiber valosin - containing protein" ], "alt_id": [], "def": "A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family.", "synonym": [ [ "abnormal muscle fibre valosin - containing protein", "abnormal muscle fibre valosin - containing protein" ] ], "xref": [ "UMLS:C4022570" ], "is_a": [ "HP:0030089" ], "is_obsolete": "", "replace_id": "" }, "HP:0030229": { "name": [ "accumulation of muscle fiber valosin - containing protein", "accumulation of muscle fiber valosin - containing protein" ], "alt_id": [], "def": "Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy.", "synonym": [ [ "accumulation of muscle fibre valosin - containing protein", "accumulation of muscle fibre valosin - containing protein" ] ], "xref": [ "UMLS:C4022569" ], "is_a": [ "HP:0030228" ], "is_obsolete": "", "replace_id": "" }, "HP:0030230": { "name": [ "central core regions in muscle fibers", "central core region in muscle fiber" ], "alt_id": [], "def": "The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric.", "synonym": [ [ "central core regions in muscle fibres", "central core region in muscle fibre" ] ], "xref": [ "UMLS:C4022568" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0030231": { "name": [ "glycogen accumulation in muscle fiber lysosomes", "glycogen accumulation in muscle fiber lysosome" ], "alt_id": [], "def": "An increased amount of glycogen in muscle tissue found specifically in lysosomes.", "synonym": [ [ "glycogen accumulation in muscle fibre lysosomes", "glycogen accumulation in muscle fibre lysosome" ] ], "xref": [ "UMLS:C4022567" ], "is_a": [ "HP:0009051" ], "is_obsolete": "", "replace_id": "" }, "HP:0030232": { "name": [ "increased sarcoplasmic glycogen", "increase sarcoplasmic glycogen" ], "alt_id": [], "def": "Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.", "synonym": [], "xref": [ "UMLS:C4022566" ], "is_a": [ "HP:0009051" ], "is_obsolete": "", "replace_id": "" }, "HP:0030233": { "name": [ "bethlem sign", "bethlem sign" ], "alt_id": [], "def": "Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures.", "synonym": [ [ "bethlem phenomenon", "bethlem phenomenon" ] ], "xref": [ "UMLS:C4021042" ], "is_a": [ "HP:0009473" ], "is_obsolete": "", "replace_id": "" }, "HP:0030234": { "name": [ "highly elevated creatine kinase", "highly elevate creatine kinase" ], "alt_id": [], "def": "An increased CPK level between 4X and 50X above the upper normal level.", "synonym": [ [ "highly elevated cpk", "highly elevate cpk" ], [ "highly elevated creatine phosphokinase", "highly elevate creatine phosphokinase" ], [ "highly elevated serum ck", "highly elevate serum ck" ], [ "highly elevated serum cpk", "highly elevate serum cpk" ], [ "highly elevated serum phosph - ck", "highly elevate serum phosph - ck" ] ], "xref": [ "UMLS:C4022565" ], "is_a": [ "HP:0003236" ], "is_obsolete": "", "replace_id": "" }, "HP:0030235": { "name": [ "extremely elevated creatine kinase", "extremely elevated creatine kinase" ], "alt_id": [], "def": "An increased creatine kinase level more than 50X above the upper normal level.", "synonym": [ [ "extremely elevated cpk", "extremely elevate cpk" ], [ "extremely elevated creatine phosphokinase", "extremely elevated creatine phosphokinase" ], [ "extremely elevated phospho - ck serum level", "extremely elevate phospho - ck serum level" ], [ "extremely elevated serum ck level", "extremely elevated serum ck level" ], [ "extremely high cpk level", "extremely high cpk level" ] ], "xref": [ "UMLS:C4022564" ], "is_a": [ "HP:0003236" ], "is_obsolete": "", "replace_id": "" }, "HP:0030236": { "name": [ "abnormality of muscle size", "abnormality of muscle size" ], "alt_id": [], "def": "Abnormalities of the overall muscle bulk based on clinical observation.", "synonym": [ [ "abnormality of muscle size", "abnormality of muscle size" ] ], "xref": [ "UMLS:C4022563" ], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0030237": { "name": [ "hand muscle weakness", "hand muscle weakness" ], "alt_id": [], "def": "Reduced strength of the musculature of the hand.", "synonym": [ [ "hand muscle weakness", "hand muscle weakness" ] ], "xref": [ "SNOMEDCT_US:298283006", "UMLS:C0239831" ], "is_a": [ "HP:0001421" ], "is_obsolete": "", "replace_id": "" }, "HP:0030239": { "name": [ "hypoplasia of the upper arm musculature", "hypoplasia of the upper arm musculature" ], "alt_id": [], "def": "Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis.", "synonym": [ [ "underdeveloped upper arm muscles", "underdeveloped upper arm muscle" ] ], "xref": [ "UMLS:C4022562" ], "is_a": [ "HP:0009016" ], "is_obsolete": "", "replace_id": "" }, "HP:0030241": { "name": [ "hypoplasia of deltoid muscle", "hypoplasia of deltoid muscle" ], "alt_id": [ "HP:0009039", "HP:0009044" ], "def": "Underdevelopment of the deltoid muscle.", "synonym": [ [ "deltoid muscle hypoplasia", "deltoid muscle hypoplasia" ] ], "xref": [ "UMLS:C1868170" ], "is_a": [ "HP:0008952" ], "is_obsolete": "", "replace_id": "" }, "HP:0030242": { "name": [ "portal vein thrombosis", "portal vein thrombosis" ], "alt_id": [], "def": "Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.", "synonym": [ [ "blood clot in portal vein", "blood clot in portal vein" ] ], "xref": [ "SNOMEDCT_US:17920008", "UMLS:C0155773" ], "is_a": [ "HP:0030247" ], "is_obsolete": "", "replace_id": "" }, "HP:0030243": { "name": [ "hepatic vein thrombosis", "hepatic vein thrombosis" ], "alt_id": [], "def": "An obstruction in the veins of the liver caused by a blood clot (thrombosis).", "synonym": [ [ "blood clot in liver vein", "blood clot in liver vein" ], [ "hepatic venous thrombosis", "hepatic venous thrombosis" ] ], "xref": [ "MSH:D006502", "SNOMEDCT_US:38739001", "UMLS:C0019154" ], "is_a": [ "HP:0030247" ], "is_obsolete": "", "replace_id": "" }, "HP:0030244": { "name": [ "maternal fever in pregnancy", "maternal fever in pregnancy" ], "alt_id": [], "def": "The occurence of an elevated body temperature of the mother during pregnancy.", "synonym": [ [ "maternal fever during pregnancy", "maternal fever during pregnancy" ] ], "xref": [ "UMLS:C4021041" ], "is_a": [ "HP:0001945", "HP:0002686" ], "is_obsolete": "", "replace_id": "" }, "HP:0030245": { "name": [ "intrapartum fever", "intrapartum fever" ], "alt_id": [], "def": "The occurence of maternal fever during labor.", "synonym": [ [ "maternal fever during labor", "maternal fever during labor" ], [ "maternal fever during labour", "maternal fever during labour" ] ], "xref": [ "UMLS:C3829514" ], "is_a": [ "HP:0030244" ], "is_obsolete": "", "replace_id": "" }, "HP:0030246": { "name": [ "maternal first trimester fever", "maternal first trimester fever" ], "alt_id": [], "def": "The occurence of fever in a mother during the first trimester of pregnancy.", "synonym": [], "xref": [ "UMLS:C4022561" ], "is_a": [ "HP:0030244" ], "is_obsolete": "", "replace_id": "" }, "HP:0030247": { "name": [ "splanchnic vein thrombosis", "splanchnic vein thrombosis" ], "alt_id": [], "def": "The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).", "synonym": [ [ "blood clot in splanchnic vein", "blood clot in splanchnic vein" ] ], "xref": [ "UMLS:C4022560" ], "is_a": [ "HP:0004936" ], "is_obsolete": "", "replace_id": "" }, "HP:0030248": { "name": [ "mesenteric venous thrombosis", "mesenteric venous thrombosis" ], "alt_id": [], "def": "A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).", "synonym": [ [ "blood clot in mesentertic vein", "blood clot in mesentertic vein" ] ], "xref": [ "MSH:D065666", "SNOMEDCT_US:95446005", "UMLS:C0267412" ], "is_a": [ "HP:0030247" ], "is_obsolete": "", "replace_id": "" }, "HP:0030249": { "name": [ "enanthema", "enanthema" ], "alt_id": [], "def": "A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx.", "synonym": [], "xref": [ "SNOMEDCT_US:5862001", "UMLS:C0014034" ], "is_a": [ "HP:0011830" ], "is_obsolete": "", "replace_id": "" }, "HP:0030250": { "name": [ "pulmonary granulomatosis", "pulmonary granulomatosis" ], "alt_id": [], "def": "The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung.", "synonym": [], "xref": [ "UMLS:C0856628" ], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0030251": { "name": [ "absence of memory b cells", "absence of memory b cell" ], "alt_id": [], "def": "Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin.", "synonym": [], "xref": [ "UMLS:C4022559" ], "is_a": [ "HP:0010976" ], "is_obsolete": "", "replace_id": "" }, "HP:0030252": { "name": [ "absent circulating b cells", "absent circulate b cell" ], "alt_id": [], "def": "Complete lack of mature B cells, that is, of B cells that have left the bone marrow.", "synonym": [ [ "absence of mature b cells", "absence of mature b cell" ] ], "xref": [ "UMLS:C4022558" ], "is_a": [ "HP:0010976" ], "is_obsolete": "", "replace_id": "" }, "HP:0030253": { "name": [ "defective t cell proliferation", "defective t cell proliferation" ], "alt_id": [], "def": "A reduced ability of a T cell population to expand by cell division following T cell activation.", "synonym": [], "xref": [ "UMLS:C4022557" ], "is_a": [ "HP:0005435", "HP:0031379" ], "is_obsolete": "", "replace_id": "" }, "HP:0030254": { "name": [ "nail bed hemorrhage", "nail bed hemorrhage" ], "alt_id": [], "def": "Small areas of bleeding (hemorrhage) under the fingernail or toenail.", "synonym": [ [ "nail bed haemorrhage", "nail bed haemorrhage" ] ], "xref": [ "UMLS:C0877087" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0030255": { "name": [ "large intestinal polyposis", "large intestinal polyposis" ], "alt_id": [], "def": "The presence of multiple polyps in the large intestine.", "synonym": [], "xref": [ "UMLS:C4022556" ], "is_a": [ "HP:0200008" ], "is_obsolete": "", "replace_id": "" }, "HP:0030256": { "name": [ "small intestinal polyposis", "small intestinal polyposis" ], "alt_id": [], "def": "The presence of multiple polyps in the small intestine.", "synonym": [], "xref": [ "UMLS:C4022555" ], "is_a": [ "HP:0200008" ], "is_obsolete": "", "replace_id": "" }, "HP:0030257": { "name": [ "freckled genitalia", "freckle genitalia" ], "alt_id": [], "def": "One or more brown punctate macules on the skin of the genitalia.", "synonym": [ [ "freckled genitalia", "freckle genitalia" ], [ "genitalia , ephelides", "genitalia , ephelides" ] ], "xref": [ "UMLS:C4021040" ], "is_a": [ "HP:0012293" ], "is_obsolete": "", "replace_id": "" }, "HP:0030258": { "name": [ "hyperpigmented genitalia", "hyperpigmented genitalia" ], "alt_id": [], "def": "Localized or generalized increased genital pigmentation.", "synonym": [ [ "increased genital pigmentation", "increase genital pigmentation" ], [ "penile melanosis", "penile melanosis" ] ], "xref": [ "UMLS:C4020713", "UMLS:C4022554" ], "is_a": [ "HP:0012293" ], "is_obsolete": "", "replace_id": "" }, "HP:0030259": { "name": [ "hypopigmented genitalia", "hypopigmented genitalia" ], "alt_id": [], "def": "Localized or generalized decreased genital pigmentation.", "synonym": [ [ "decreased genital pigmentation", "decrease genital pigmentation" ] ], "xref": [ "UMLS:C4022553" ], "is_a": [ "HP:0012293" ], "is_obsolete": "", "replace_id": "" }, "HP:0030260": { "name": [ "microphallus", "microphallus" ], "alt_id": [], "def": "Length of penis more than 2 SD below the mean for age accompanied by hypospadias.", "synonym": [], "xref": [ "SNOMEDCT_US:276333003", "UMLS:C0240701" ], "is_a": [ "HP:0008736" ], "is_obsolete": "", "replace_id": "" }, "HP:0030261": { "name": [ "absent penis", "absent penis" ], "alt_id": [ "HP:0040316" ], "def": "Lack of recognizable penile structures.", "synonym": [ [ "absent penis", "absent penis" ], [ "aphallia", "aphallia" ], [ "aplasia of the penis", "aplasia of the penis" ], [ "penis aplasia", "penis aplasia" ] ], "xref": [ "SNOMEDCT_US:204908001", "SNOMEDCT_US:59981001", "UMLS:C0555231" ], "is_a": [ "HP:0000036" ], "is_obsolete": "", "replace_id": "" }, "HP:0030262": { "name": [ "narrow penis", "narrow penis" ], "alt_id": [], "def": "Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age.", "synonym": [ [ "narrow penis", "narrow penis" ] ], "xref": [ "UMLS:C4022552" ], "is_a": [ "HP:0000036" ], "is_obsolete": "", "replace_id": "" }, "HP:0030263": { "name": [ "torsion of the penis", "torsion of the penis" ], "alt_id": [], "def": "Rotated position of the glans, with or without the penile shaft, of 30 degrees or more.", "synonym": [], "xref": [ "UMLS:C1407019" ], "is_a": [ "HP:0000036" ], "is_obsolete": "", "replace_id": "" }, "HP:0030264": { "name": [ "webbed penis", "web penis" ], "alt_id": [], "def": "Ventral skinfold extending from penis to scrotum.", "synonym": [ [ "webbed penis", "web penis" ] ], "xref": [ "SNOMEDCT_US:253852007", "UMLS:C0431670" ], "is_a": [ "HP:0000036" ], "is_obsolete": "", "replace_id": "" }, "HP:0030265": { "name": [ "wide penis", "wide penis" ], "alt_id": [], "def": "Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age.", "synonym": [ [ "wide penis", "wide penis" ] ], "xref": [ "UMLS:C4022551" ], "is_a": [ "HP:0030264" ], "is_obsolete": "", "replace_id": "" }, "HP:0030266": { "name": [ "obsolete abnormality of the sacroiliac notch", "obsolete abnormality of the sacroiliac notch" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0010456" }, "HP:0030267": { "name": [ "calcification of the interosseus membrane of the forearm", "calcification of the interosseus membrane of the forearm" ], "alt_id": [], "def": "Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna.", "synonym": [], "xref": [ "UMLS:C4022549" ], "is_a": [ "HP:0002973" ], "is_obsolete": "", "replace_id": "" }, "HP:0030268": { "name": [ "hyperplastic callus formation", "hyperplastic callus formation" ], "alt_id": [], "def": "Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.", "synonym": [], "xref": [ "UMLS:C4022548" ], "is_a": [ "HP:0011842" ], "is_obsolete": "", "replace_id": "" }, "HP:0030269": { "name": [ "increased serum insulin - like growth factor 1", "increase serum insulin - like growth factor 1" ], "alt_id": [], "def": "An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.", "synonym": [ [ "elevated serum igf1", "elevate serum igf1" ], [ "increased serum igf1", "increase serum igf1" ], [ "increased serum insulin - like growth factor 1", "increase serum insulin - like growth factor 1" ] ], "xref": [ "UMLS:C2676198" ], "is_a": [ "HP:0030352" ], "is_obsolete": "", "replace_id": "" }, "HP:0030270": { "name": [ "elevated red cell adenosine deaminase level", "elevate red cell adenosine deaminase level" ], "alt_id": [], "def": "Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.", "synonym": [], "xref": [ "UMLS:C4022547" ], "is_a": [ "HP:0030272" ], "is_obsolete": "", "replace_id": "" }, "HP:0030271": { "name": [ "reduced erythrocyte 2,3 - diphosphoglycerate concentration", "reduce erythrocyte 2,3 - diphosphoglycerate concentration" ], "alt_id": [], "def": "This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.", "synonym": [], "xref": [ "UMLS:C4022546" ], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0030272": { "name": [ "abnormal erythrocyte enzyme level", "abnormal erythrocyte enzyme level" ], "alt_id": [], "def": "An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.", "synonym": [], "xref": [ "UMLS:C4022545" ], "is_a": [ "HP:0001877", "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0030273": { "name": [ "reduced red cell adenosine deaminase level", "reduce red cell adenosine deaminase level" ], "alt_id": [], "def": "Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.", "synonym": [], "xref": [ "UMLS:C4022544" ], "is_a": [ "HP:0030272" ], "is_obsolete": "", "replace_id": "" }, "HP:0030274": { "name": [ "accessory scrotum", "accessory scrotum" ], "alt_id": [], "def": "Additional scrotum, or part of a scrotum in an abnormal location.", "synonym": [ [ "extra scrotum", "extra scrotum" ] ], "xref": [ "UMLS:C4022543" ], "is_a": [ "HP:0000045" ], "is_obsolete": "", "replace_id": "" }, "HP:0030275": { "name": [ "ectopic scrotum", "ectopic scrotum" ], "alt_id": [], "def": "Scrotum in a position other than the usual position inferior to the base of the penis.", "synonym": [ [ "abnormal scrotum position", "abnormal scrotum position" ] ], "xref": [ "UMLS:C4022542" ], "is_a": [ "HP:0000045" ], "is_obsolete": "", "replace_id": "" }, "HP:0030276": { "name": [ "small scrotum", "small scrotum" ], "alt_id": [], "def": "Apparently small scrotum for age.", "synonym": [ [ "small scrotum", "small scrotum" ], [ "underdeveloped scrotum", "underdeveloped scrotum" ] ], "xref": [ "SNOMEDCT_US:204912007", "UMLS:C0431659" ], "is_a": [ "HP:0000045" ], "is_obsolete": "", "replace_id": "" }, "HP:0030277": { "name": [ "abnormal vertebral pedicle morphology", "abnormal vertebral pedicle morphology" ], "alt_id": [], "def": "Abnormal morphology of a vertebral pedical.", "synonym": [], "xref": [ "UMLS:C4022541" ], "is_a": [ "HP:0008438" ], "is_obsolete": "", "replace_id": "" }, "HP:0030278": { "name": [ "hypoplastic vertebral pedicle", "hypoplastic vertebral pedicle" ], "alt_id": [], "def": "Underdeveloped vertebral pedicle.", "synonym": [], "xref": [ "UMLS:C4022540" ], "is_a": [ "HP:0030277" ], "is_obsolete": "", "replace_id": "" }, "HP:0030279": { "name": [ "hypoplastic l5 vertebral pedicle", "hypoplastic l5 vertebral pedicle" ], "alt_id": [], "def": "Underdeveloped pedicle of the fifth lumbar vertebra.", "synonym": [], "xref": [ "UMLS:C4022539" ], "is_a": [ "HP:0030278" ], "is_obsolete": "", "replace_id": "" }, "HP:0030280": { "name": [ "rib gap", "rib gap" ], "alt_id": [], "def": "Radiolucent focal defect of a rib shaft.", "synonym": [ [ "rib gap", "rib gap" ] ], "xref": [ "SNOMEDCT_US:249705009", "UMLS:C0426827" ], "is_a": [ "HP:0000772" ], "is_obsolete": "", "replace_id": "" }, "HP:0030281": { "name": [ "cervical c3 / c4 vertebral fusion", "cervical c3 / c4 vertebral fusion" ], "alt_id": [], "def": "Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.", "synonym": [], "xref": [ "UMLS:C4022538" ], "is_a": [ "HP:0002949" ], "is_obsolete": "", "replace_id": "" }, "HP:0030282": { "name": [ "posterior rib gap", "posterior rib gap" ], "alt_id": [], "def": "Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest.", "synonym": [ [ "dorsal rib defect", "dorsal rib defect" ] ], "xref": [ "UMLS:C1842696" ], "is_a": [ "HP:0030280" ], "is_obsolete": "", "replace_id": "" }, "HP:0030283": { "name": [ "partial absence of the septum pellucidum", "partial absence of the septum pellucidum" ], "alt_id": [], "def": "Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain.", "synonym": [], "xref": [ "SNOMEDCT_US:422474003", "UMLS:C1827299" ], "is_a": [ "HP:0007375" ], "is_obsolete": "", "replace_id": "" }, "HP:0030284": { "name": [ "triangular tongue", "triangular tongue" ], "alt_id": [], "def": "A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle.", "synonym": [ [ "triangle shaped tongue", "triangle shape tongue" ], [ "triangular tongue", "triangular tongue" ] ], "xref": [ "UMLS:C4022537" ], "is_a": [ "HP:0000158" ], "is_obsolete": "", "replace_id": "" }, "HP:0030285": { "name": [ "splayed superior cerebellar peduncle", "splay superior cerebellar peduncle" ], "alt_id": [], "def": "Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.", "synonym": [], "xref": [ "UMLS:C4022536" ], "is_a": [ "HP:0011932" ], "is_obsolete": "", "replace_id": "" }, "HP:0030286": { "name": [ "atrophic superior cerebellar peduncle", "atrophic superior cerebellar peduncle" ], "alt_id": [], "def": "Atrophy of the superior cerebellar peduncle.", "synonym": [], "xref": [ "UMLS:C4022535" ], "is_a": [ "HP:0011932" ], "is_obsolete": "", "replace_id": "" }, "HP:0030289": { "name": [ "flattened femoral epiphysis", "flatten femoral epiphysis" ], "alt_id": [], "def": "An abnormal flattening of an epiphysis of femur.", "synonym": [ [ "flattended end part of thigh bone", "flattended end part of thigh bone" ] ], "xref": [ "UMLS:C1850642" ], "is_a": [ "HP:0003071" ], "is_obsolete": "", "replace_id": "" }, "HP:0030290": { "name": [ "unossified sacrum", "unossified sacrum" ], "alt_id": [], "def": "Lack of ossification of the sacrum.", "synonym": [ [ "absence of sacrum ossification", "absence of sacrum ossification" ] ], "xref": [ "UMLS:C2675562" ], "is_a": [ "HP:0025370" ], "is_obsolete": "", "replace_id": "" }, "HP:0030291": { "name": [ "lower - limb metaphyseal irregularity", "low - limb metaphyseal irregularity" ], "alt_id": [], "def": "Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.", "synonym": [], "xref": [ "UMLS:C4022534" ], "is_a": [ "HP:0003025" ], "is_obsolete": "", "replace_id": "" }, "HP:0030292": { "name": [ "tibial metaphyseal irregularity", "tibial metaphyseal irregularity" ], "alt_id": [], "def": "Irregularity of the normally smooth surface of a metaphysis of a tibia.", "synonym": [], "xref": [ "UMLS:C4022533" ], "is_a": [ "HP:0030291" ], "is_obsolete": "", "replace_id": "" }, "HP:0030293": { "name": [ "fibular metaphyseal irregularity", "fibular metaphyseal irregularity" ], "alt_id": [], "def": "Irregularity of the normally smooth surface of a metaphysis of a fibula.", "synonym": [ [ "irregularity of wide portion of calf bone", "irregularity of wide portion of calf bone" ] ], "xref": [ "UMLS:C4022532" ], "is_a": [ "HP:0030291" ], "is_obsolete": "", "replace_id": "" }, "HP:0030294": { "name": [ "metaphyseal chondromatosis of tibia", "metaphyseal chondromatosis of tibia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022531" ], "is_a": [ "HP:0005868" ], "is_obsolete": "", "replace_id": "" }, "HP:0030295": { "name": [ "metaphyseal chondromatosis of femur", "metaphyseal chondromatosis of femur" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022530" ], "is_a": [ "HP:0005868" ], "is_obsolete": "", "replace_id": "" }, "HP:0030296": { "name": [ "metaphyseal chondromatosis of radius", "metaphyseal chondromatosis of radius" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022529" ], "is_a": [ "HP:0005868" ], "is_obsolete": "", "replace_id": "" }, "HP:0030297": { "name": [ "metaphyseal chondromatosis of ulna", "metaphyseal chondromatosis of ulna" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022528" ], "is_a": [ "HP:0005868" ], "is_obsolete": "", "replace_id": "" }, "HP:0030298": { "name": [ "metaphyseal chondromatosis of humerus", "metaphyseal chondromatosis of humerus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021860" ], "is_a": [ "HP:0005868" ], "is_obsolete": "", "replace_id": "" }, "HP:0030299": { "name": [ "distal femoral metaphyseal abnormality", "distal femoral metaphyseal abnormality" ], "alt_id": [], "def": "An anomaly of the metaphysis of the distal femur (close to the knee).", "synonym": [ [ "abnormality of wide portion of outermost thighbone", "abnormality of wide portion of outermost thighbone" ] ], "xref": [ "UMLS:C4022527" ], "is_a": [ "HP:0006489" ], "is_obsolete": "", "replace_id": "" }, "HP:0030300": { "name": [ "10 pairs of ribs", "10 pair of rib" ], "alt_id": [], "def": "Presence of only 10 (instead of the usual 12) pairs of ribs.", "synonym": [ [ "10 pairs of ribs", "10 pair of rib" ] ], "xref": [ "UMLS:C4022526" ], "is_a": [ "HP:0000921" ], "is_obsolete": "", "replace_id": "" }, "HP:0030301": { "name": [ "abnormality of the anterior commissure", "abnormality of the anterior commissure" ], "alt_id": [], "def": "An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.", "synonym": [], "xref": [ "UMLS:C4022525" ], "is_a": [ "HP:0002500" ], "is_obsolete": "", "replace_id": "" }, "HP:0030302": { "name": [ "agenesis of the anterior commissure", "agenesis of the anterior commissure" ], "alt_id": [], "def": "Absence of the anterior commissure.", "synonym": [], "xref": [ "UMLS:C1851087" ], "is_a": [ "HP:0030301" ], "is_obsolete": "", "replace_id": "" }, "HP:0030303": { "name": [ "hypoplastic anterior commissure", "hypoplastic anterior commissure" ], "alt_id": [], "def": "Underdevelopment of the anterior commissure.", "synonym": [], "xref": [ "UMLS:C4022524" ], "is_a": [ "HP:0030301" ], "is_obsolete": "", "replace_id": "" }, "HP:0030304": { "name": [ "abnormal number of vertebrae", "abnormal number of vertebra" ], "alt_id": [], "def": "A deviation from the normal number of vertebrae in the spinal column.", "synonym": [], "xref": [ "UMLS:C4022523" ], "is_a": [ "HP:0003468" ], "is_obsolete": "", "replace_id": "" }, "HP:0030305": { "name": [ "decreased number of vertebrae", "decreased number of vertebra" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022522" ], "is_a": [ "HP:0030304" ], "is_obsolete": "", "replace_id": "" }, "HP:0030306": { "name": [ "11 thoracic vertebrae", "11 thoracic vertebra" ], "alt_id": [], "def": "The presence of 11 instead of the normal 12 thoracic vertebrae.", "synonym": [], "xref": [ "UMLS:C4022521" ], "is_a": [ "HP:0030305" ], "is_obsolete": "", "replace_id": "" }, "HP:0030307": { "name": [ "flared lower limb metaphysis", "flare low limb metaphysis" ], "alt_id": [], "def": "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg.", "synonym": [ [ "flared metaphysis of lower limb bone", "flared metaphysis of low limb bone" ] ], "xref": [ "UMLS:C4022520" ], "is_a": [ "HP:0003015" ], "is_obsolete": "", "replace_id": "" }, "HP:0030308": { "name": [ "flared distal tibial metaphysis", "flare distal tibial metaphysis" ], "alt_id": [], "def": "The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia.", "synonym": [ [ "flared outermost metaphysis of shankbone", "flare outermost metaphysis of shankbone" ], [ "flared outermost metaphysis of shinbone", "flare outermost metaphysis of shinbone" ] ], "xref": [ "UMLS:C4022519" ], "is_a": [ "HP:0030307" ], "is_obsolete": "", "replace_id": "" }, "HP:0030309": { "name": [ "flared distal fibular metaphysis", "flare distal fibular metaphysis" ], "alt_id": [], "def": "The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.", "synonym": [ [ "flared outermost wide portion of of calf bone", "flare outermost wide portion of of calf bone" ] ], "xref": [ "UMLS:C4022518" ], "is_a": [ "HP:0030307" ], "is_obsolete": "", "replace_id": "" }, "HP:0030310": { "name": [ "upper extremity joint dislocation", "upper extremity joint dislocation" ], "alt_id": [], "def": "Displacement or malalignment of one or more joints in the upper extremity (arm).", "synonym": [ [ "dislocated arm joints", "dislocate arm joint" ] ], "xref": [ "UMLS:C4022517" ], "is_a": [ "HP:0001373" ], "is_obsolete": "", "replace_id": "" }, "HP:0030311": { "name": [ "lower extremity joint dislocation", "low extremity joint dislocation" ], "alt_id": [], "def": "Displacement or malalignment of one or more joints in the lower extremity (leg).", "synonym": [ [ "dislocated leg joints", "dislocate leg joint" ] ], "xref": [ "UMLS:C4022516" ], "is_a": [ "HP:0001373" ], "is_obsolete": "", "replace_id": "" }, "HP:0030312": { "name": [ "obliteration of the calvarial diploe", "obliteration of the calvarial diploe" ], "alt_id": [], "def": "Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe).", "synonym": [ [ "obliteration of cranial cancellous bone", "obliteration of cranial cancellous bone" ] ], "xref": [ "UMLS:C1860855" ], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0030313": { "name": [ "abnormal periosteum morphology", "abnormal periosteum morphology" ], "alt_id": [], "def": "An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.", "synonym": [], "xref": [ "UMLS:C4022515" ], "is_a": [ "HP:0003330", "HP:0040166" ], "is_obsolete": "", "replace_id": "" }, "HP:0030314": { "name": [ "periostosis", "periostosis" ], "alt_id": [], "def": "Abnormal deposition of periosteal bone.", "synonym": [], "xref": [ "UMLS:C1409412" ], "is_a": [ "HP:0030313" ], "is_obsolete": "", "replace_id": "" }, "HP:0030318": { "name": [ "angular cheilitis", "angular cheilitis" ], "alt_id": [], "def": "A type of inflammation of the lips involving one or both of the corners of the mouth.", "synonym": [ [ "angular cheilosis", "angular cheilosis" ], [ "angular stomatitis", "angular stomatitis" ], [ "commissural cheilitis", "commissural cheilitis" ], [ "inflammation of corners of the mouth", "inflammation of corner of the mouth" ], [ "inflammation of oral commisures", "inflammation of oral commisures" ], [ "red and sore corners of the mouth", "red and sore corner of the mouth" ] ], "xref": [ "SNOMEDCT_US:266429005", "UMLS:C0221237" ], "is_a": [ "HP:0100825" ], "is_obsolete": "", "replace_id": "" }, "HP:0030319": { "name": [ "weakness of facial musculature", "weakness of facial musculature" ], "alt_id": [], "def": "Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).", "synonym": [ [ "decreased facial muscle strength", "decrease facial muscle strength" ], [ "decreased strength of facial muscles", "decreased strength of facial muscle" ], [ "face weakness", "face weakness" ], [ "facial muscle weakness", "facial muscle weakness" ], [ "facial weakness", "facial weakness" ], [ "myasthenia of facial muscles", "myasthenia of facial muscle" ], [ "reduced facial muscle strength", "reduce facial muscle strength" ], [ "weakness of face", "weakness of face" ], [ "weakness of facial musculature", "weakness of facial musculature" ] ], "xref": [ "UMLS:C4022514" ], "is_a": [ "HP:0000301" ], "is_obsolete": "", "replace_id": "" }, "HP:0030320": { "name": [ "increased intervertebral space", "increase intervertebral space" ], "alt_id": [], "def": "An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space.", "synonym": [], "xref": [ "UMLS:C4022513" ], "is_a": [ "HP:0005108" ], "is_obsolete": "", "replace_id": "" }, "HP:0030321": { "name": [ "abnormal vertebral artery morphology", "abnormal vertebral artery morphology" ], "alt_id": [], "def": "An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.", "synonym": [ [ "abnormality of the vertebral artery", "abnormality of the vertebral artery" ] ], "xref": [ "UMLS:C4022512" ], "is_a": [ "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:0030322": { "name": [ "vertebral artery hypoplasia", "vertebral artery hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the vertebral artery.", "synonym": [], "xref": [ "UMLS:C1868737" ], "is_a": [ "HP:0030321" ], "is_obsolete": "", "replace_id": "" }, "HP:0030323": { "name": [ "unilateral vertebral artery hypoplasia", "unilateral vertebral artery hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the vertebral artery on one side.", "synonym": [], "xref": [ "UMLS:C3279090" ], "is_a": [ "HP:0030322" ], "is_obsolete": "", "replace_id": "" }, "HP:0030324": { "name": [ "bilateral vertebral artery hypoplasia", "bilateral vertebral artery hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the vertebral artery on both sides.", "synonym": [], "xref": [ "UMLS:C4022511" ], "is_a": [ "HP:0030322" ], "is_obsolete": "", "replace_id": "" }, "HP:0030325": { "name": [ "cervicomedullary schisis", "cervicomedullary schisis" ], "alt_id": [], "def": "Fissure within the spinal cord of the neck.", "synonym": [], "xref": [ "UMLS:C4022510" ], "is_a": [ "HP:0002143" ], "is_obsolete": "", "replace_id": "" }, "HP:0030326": { "name": [ "abnormal macrophage count", "abnormal macrophage count" ], "alt_id": [], "def": "An anomaly in the number of macrophages.", "synonym": [], "xref": [ "UMLS:C4022509" ], "is_a": [ "HP:0004311" ], "is_obsolete": "", "replace_id": "" }, "HP:0030327": { "name": [ "abnormal osteoclast count", "abnormal osteoclast count" ], "alt_id": [], "def": "An anomaly in the number of osteoclasts, bone-resorbing cells that develop from macrophages.", "synonym": [], "xref": [ "UMLS:C4022508" ], "is_a": [ "HP:0030326" ], "is_obsolete": "", "replace_id": "" }, "HP:0030328": { "name": [ "decreased osteoclast count", "decrease osteoclast count" ], "alt_id": [], "def": "Decreased number of osteoclasts.", "synonym": [], "xref": [ "UMLS:C4022507" ], "is_a": [ "HP:0030327" ], "is_obsolete": "", "replace_id": "" }, "HP:0030329": { "name": [ "retinal thinning", "retinal thinning" ], "alt_id": [], "def": "Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).", "synonym": [ [ "retinal thinning", "retinal thinning" ] ], "xref": [ "UMLS:C3549703" ], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0030330": { "name": [ "multinucleated giant chondrocytes in epiphyseal cartilage", "multinucleated giant chondrocytes in epiphyseal cartilage" ], "alt_id": [], "def": "The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage.", "synonym": [], "xref": [ "UMLS:C4022506" ], "is_a": [ "HP:0005930", "HP:0032929" ], "is_obsolete": "", "replace_id": "" }, "HP:0030331": { "name": [ "impaired stimulus - induced skin wrinkling", "impaired stimulus - induced skin wrinkling" ], "alt_id": [], "def": "A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth).", "synonym": [], "xref": [ "UMLS:C4022505" ], "is_a": [ "HP:0011122" ], "is_obsolete": "", "replace_id": "" }, "HP:0030332": { "name": [ "obsolete abnormal t cell morphology", "obsolete abnormal t cell morphology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0002843" }, "HP:0030333": { "name": [ "abnormal alpha - beta t cell morphology", "abnormal alpha - beta t cell morphology" ], "alt_id": [], "def": "A structuraly anomaly of T cells that express an alpha-beta T cell receptor.", "synonym": [], "xref": [ "UMLS:C4022503" ], "is_a": [ "HP:0002843" ], "is_obsolete": "", "replace_id": "" }, "HP:0030334": { "name": [ "abnormal cd4 - positive , cd25 - positive , alpha - beta regulatory t cell morphology", "abnormal cd4 - positive , cd25 - positive , alpha - beta regulatory t cell morphology" ], "alt_id": [], "def": "A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.", "synonym": [], "xref": [ "UMLS:C4022502" ], "is_a": [ "HP:0030333" ], "is_obsolete": "", "replace_id": "" }, "HP:0030335": { "name": [ "abnormal cd4 - positive , cd25 - positive , alpha - beta regulatory t cell count", "abnormal cd4 - positive , cd25 - positive , alpha - beta regulatory t cell count" ], "alt_id": [], "def": "A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.", "synonym": [], "xref": [ "UMLS:C4021859" ], "is_a": [ "HP:0030334" ], "is_obsolete": "", "replace_id": "" }, "HP:0030336": { "name": [ "absence of cd4 - positive , cd25 - positive regulatory t cells", "absence of cd4 - positive , cd25 - positive regulatory t cell" ], "alt_id": [], "def": "Lack of CD4+CD25+ T regulatory cells.", "synonym": [ [ "absence of cd4+cd25+ t regulatory cells", "absence of cd4+cd25+ t regulatory cell" ], [ "absence of cd4+cd25+ tregs", "absence of cd4+cd25+ tregs" ] ], "xref": [ "UMLS:C4021039" ], "is_a": [ "HP:0030335" ], "is_obsolete": "", "replace_id": "" }, "HP:0030337": { "name": [ "elevated cd4 - positive , cd25 - positive regulatory t cell count", "elevate cd4 - positive , cd25 - positive regulatory t cell count" ], "alt_id": [], "def": "An increased number of CD4-positive, CD25-positive regulatory T cells.", "synonym": [], "xref": [ "UMLS:C4022501" ], "is_a": [ "HP:0030335" ], "is_obsolete": "", "replace_id": "" }, "HP:0030338": { "name": [ "abnormal circulating gonadotropin concentration", "abnormal circulate gonadotropin concentration" ], "alt_id": [], "def": "An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).", "synonym": [ [ "abnormal circulating gonadotropin level", "abnormal circulate gonadotropin level" ] ], "xref": [ "UMLS:C4072886" ], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0030339": { "name": [ "decreased circulating gonadotropin concentration", "decrease circulate gonadotropin concentration" ], "alt_id": [], "def": "A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).", "synonym": [ [ "decreased circulating gonadotropin level", "decrease circulate gonadotropin level" ] ], "xref": [ "UMLS:C4072887" ], "is_a": [ "HP:0030338" ], "is_obsolete": "", "replace_id": "" }, "HP:0030340": { "name": [ "obsolete increased circulating gonadotropin level", "obsolete increase circulate gonadotropin level" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000837" }, "HP:0030341": { "name": [ "decreased circulating follicle stimulating hormone concentration", "decrease circulate follicle stimulate hormone concentration" ], "alt_id": [], "def": "A reduction of the circulating level of follicle-stimulating hormone (FSH).", "synonym": [ [ "decreased circulating follicle stimulating hormone level", "decrease circulate follicle stimulate hormone level" ] ], "xref": [ "UMLS:C4072889" ], "is_a": [ "HP:0030339", "HP:0030346" ], "is_obsolete": "", "replace_id": "" }, "HP:0030344": { "name": [ "decreased circulating luteinizing hormone level", "decrease circulate luteinizing hormone level" ], "alt_id": [], "def": "A reduction in the circulating level of luteinizing hormone (LH).", "synonym": [ [ "decreased circulating luteinising hormone level", "decrease circulate luteinising hormone level" ] ], "xref": [ "UMLS:C4072890" ], "is_a": [ "HP:0030339", "HP:0030345" ], "is_obsolete": "", "replace_id": "" }, "HP:0030345": { "name": [ "abnormal circulating luteinizing hormone concentration", "abnormal circulate luteinizing hormone concentration" ], "alt_id": [], "def": "An anomaly of the circulating level of luteinizing hormone (LH).", "synonym": [ [ "abnormal circulating luteinizing hormone level", "abnormal circulate luteinizing hormone level" ], [ "abnormal luteinizing hormone level", "abnormal luteinizing hormone level" ], [ "increased circulating lutropin", "increase circulating lutropin" ] ], "xref": [ "SNOMEDCT_US:166374003", "UMLS:C0580438" ], "is_a": [ "HP:0030338" ], "is_obsolete": "", "replace_id": "" }, "HP:0030346": { "name": [ "abnormal circulating follicle - stimulating hormone concentration", "abnormal circulate follicle - stimulate hormone concentration" ], "alt_id": [], "def": "An anomaly of the circulating level of follicle-stimulating hormone (FSH).", "synonym": [ [ "abnormal circulating follicle - stimulating hormone level", "abnormal circulate follicle - stimulate hormone level" ] ], "xref": [ "UMLS:C4072891" ], "is_a": [ "HP:0030338" ], "is_obsolete": "", "replace_id": "" }, "HP:0030347": { "name": [ "abnormal circulating androgen level", "abnormal circulate androgen level" ], "alt_id": [], "def": "An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.", "synonym": [], "xref": [ "UMLS:C4072892" ], "is_a": [ "HP:0033799" ], "is_obsolete": "", "replace_id": "" }, "HP:0030348": { "name": [ "increased circulating androgen concentration", "increase circulate androgen concentration" ], "alt_id": [], "def": "An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.", "synonym": [ [ "increased circulating androgen level", "increase circulate androgen level" ] ], "xref": [ "UMLS:C4072893" ], "is_a": [ "HP:0030347" ], "is_obsolete": "", "replace_id": "" }, "HP:0030349": { "name": [ "decreased circulating androgen concentration", "decrease circulate androgen concentration" ], "alt_id": [], "def": "A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.", "synonym": [ [ "decreased circulating androgen level", "decrease circulate androgen level" ] ], "xref": [ "UMLS:C4072894" ], "is_a": [ "HP:0030347" ], "is_obsolete": "", "replace_id": "" }, "HP:0030350": { "name": [ "erythematous papule", "erythematous papule" ], "alt_id": [], "def": "A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.", "synonym": [ [ "red - blue papule", "red - blue papule" ] ], "xref": [ "UMLS:C0747241" ], "is_a": [ "HP:0200034" ], "is_obsolete": "", "replace_id": "" }, "HP:0030351": { "name": [ "urticarial plaque", "urticarial plaque" ], "alt_id": [], "def": "A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.", "synonym": [], "xref": [ "UMLS:C4072895" ], "is_a": [ "HP:0200035" ], "is_obsolete": "", "replace_id": "" }, "HP:0030352": { "name": [ "abnormal serum insulin - like growth factor 1 level", "abnormal serum insulin - like growth factor 1 level" ], "alt_id": [], "def": "An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4072896" ], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0030353": { "name": [ "decreased serum insulin - like growth factor 1", "decrease serum insulin - like growth factor 1" ], "alt_id": [], "def": "A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4072897" ], "is_a": [ "HP:0030352" ], "is_obsolete": "", "replace_id": "" }, "HP:0030354": { "name": [ "abnormal serum interferon level", "abnormal serum interferon level" ], "alt_id": [], "def": "Abnormal levels of interferon in the blood.", "synonym": [], "xref": [ "UMLS:C4072898" ], "is_a": [ "HP:0011112" ], "is_obsolete": "", "replace_id": "" }, "HP:0030355": { "name": [ "abnormal serum interferon - gamma level", "abnormal serum interferon - gamma level" ], "alt_id": [], "def": "Abnormal levels of interferon gamma measured in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4072899" ], "is_a": [ "HP:0030354" ], "is_obsolete": "", "replace_id": "" }, "HP:0030356": { "name": [ "increased serum interferon - gamma level", "increase serum interferon - gamma level" ], "alt_id": [], "def": "An elevation in the concentration of interferon gamma measured in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4072900" ], "is_a": [ "HP:0030355" ], "is_obsolete": "", "replace_id": "" }, "HP:0030357": { "name": [ "small cell lung carcinoma", "small cell lung carcinoma" ], "alt_id": [], "def": "Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly.", "synonym": [ [ "oat cell carcinoma of lung", "oat cell carcinoma of lung" ], [ "oat cell lung cancer", "oat cell lung cancer" ], [ "small cell lung cancer", "small cell lung cancer" ] ], "xref": [ "MSH:D055752", "SNOMEDCT_US:254632001", "SNOMEDCT_US:254633006", "UMLS:C0149925" ], "is_a": [ "HP:0100526" ], "is_obsolete": "", "replace_id": "" }, "HP:0030358": { "name": [ "non - small cell lung carcinoma", "non - small cell lung carcinoma" ], "alt_id": [], "def": "", "synonym": [ [ "non - small cell lung cancer", "non - small cell lung cancer" ] ], "xref": [ "MSH:D002289", "SNOMEDCT_US:254637007", "UMLS:C0007131" ], "is_a": [ "HP:0100526" ], "is_obsolete": "", "replace_id": "" }, "HP:0030359": { "name": [ "squamous cell lung carcinoma", "squamous cell lung carcinoma" ], "alt_id": [], "def": "A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells.", "synonym": [], "xref": [ "SNOMEDCT_US:254634000", "UMLS:C0149782" ], "is_a": [ "HP:0030358" ], "is_obsolete": "", "replace_id": "" }, "HP:0030360": { "name": [ "large cell lung carcinoma", "large cell lung carcinoma" ], "alt_id": [], "def": "A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin.", "synonym": [], "xref": [ "SNOMEDCT_US:254629004", "UMLS:C0345958" ], "is_a": [ "HP:0030358" ], "is_obsolete": "", "replace_id": "" }, "HP:0030361": { "name": [ "abnormal circulating eicosanoid concentration", "abnormal circulate eicosanoid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid).", "synonym": [ [ "abnormality of icosanoid metabolism", "abnormality of icosanoid metabolism" ] ], "xref": [ "UMLS:C4072901" ], "is_a": [ "HP:0011022" ], "is_obsolete": "", "replace_id": "" }, "HP:0030362": { "name": [ "reduced muscle carnitine level", "reduce muscle carnitine level" ], "alt_id": [], "def": "A reduction in the level of carnitine in muscle tissue.", "synonym": [], "xref": [ "UMLS:C4072902" ], "is_a": [ "HP:0004303", "HP:0032243" ], "is_obsolete": "", "replace_id": "" }, "HP:0030363": { "name": [ "primary caesarian section", "primary caesarian section" ], "alt_id": [], "def": "Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section.", "synonym": [], "xref": [ "UMLS:C4072903" ], "is_a": [ "HP:0011410" ], "is_obsolete": "", "replace_id": "" }, "HP:0030364": { "name": [ "secondary caesarian section", "secondary caesarian section" ], "alt_id": [], "def": "Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth.", "synonym": [], "xref": [ "UMLS:C4072904" ], "is_a": [ "HP:0011410" ], "is_obsolete": "", "replace_id": "" }, "HP:0030365": { "name": [ "vaginal birth after caesarian", "vaginal birth after caesarian" ], "alt_id": [], "def": "Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally.", "synonym": [], "xref": [ "MSH:D016064", "UMLS:C0080301" ], "is_a": [ "HP:0001787" ], "is_obsolete": "", "replace_id": "" }, "HP:0030366": { "name": [ "delivery by odon device", "delivery by odon device" ], "alt_id": [], "def": "The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process.", "synonym": [], "xref": [ "UMLS:C4072905" ], "is_a": [ "HP:0001787" ], "is_obsolete": "", "replace_id": "" }, "HP:0030367": { "name": [ "finger hyperphalangy", "finger hyperphalangy" ], "alt_id": [], "def": "Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges.", "synonym": [], "xref": [ "UMLS:C4072906" ], "is_a": [ "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0030368": { "name": [ "hyperphalangy of the 2nd finger", "hyperphalangy of the 2nd finger" ], "alt_id": [], "def": "An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy.", "synonym": [ [ "hyperphalangy of index finger", "hyperphalangy of index finger" ] ], "xref": [ "UMLS:C4072907" ], "is_a": [ "HP:0030367" ], "is_obsolete": "", "replace_id": "" }, "HP:0030369": { "name": [ "induced vaginal delivery", "induced vaginal delivery" ], "alt_id": [], "def": "Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.", "synonym": [], "xref": [ "UMLS:C4072908" ], "is_a": [ "HP:0001787" ], "is_obsolete": "", "replace_id": "" }, "HP:0030370": { "name": [ "abnormal proportion of naive b cells", "abnormal proportion of naive b cell" ], "alt_id": [], "def": "A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.", "synonym": [], "xref": [ "UMLS:C4072909" ], "is_a": [ "HP:0025539" ], "is_obsolete": "", "replace_id": "" }, "HP:0030371": { "name": [ "increased proportion of naive b cells", "increase proportion of naive b cell" ], "alt_id": [], "def": "An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.", "synonym": [], "xref": [ "UMLS:C4072910" ], "is_a": [ "HP:0030370" ], "is_obsolete": "", "replace_id": "" }, "HP:0030372": { "name": [ "decreased proportion of naive b cells", "decreased proportion of naive b cell" ], "alt_id": [], "def": "A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.", "synonym": [], "xref": [ "UMLS:C4072911" ], "is_a": [ "HP:0030370" ], "is_obsolete": "", "replace_id": "" }, "HP:0030373": { "name": [ "abnormal proportion of memory b cells", "abnormal proportion of memory b cell" ], "alt_id": [], "def": "A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).", "synonym": [], "xref": [ "UMLS:C4072912" ], "is_a": [ "HP:0025539" ], "is_obsolete": "", "replace_id": "" }, "HP:0030374": { "name": [ "decreased proportion of memory b cells", "decreased proportion of memory b cell" ], "alt_id": [], "def": "A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).", "synonym": [], "xref": [ "UMLS:C4072913" ], "is_a": [ "HP:0030373" ], "is_obsolete": "", "replace_id": "" }, "HP:0030375": { "name": [ "increased proportion of memory b cells", "increase proportion of memory b cell" ], "alt_id": [], "def": "An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).", "synonym": [], "xref": [ "UMLS:C4072914" ], "is_a": [ "HP:0030373" ], "is_obsolete": "", "replace_id": "" }, "HP:0030376": { "name": [ "abnormal proportion of immature b cells", "abnormal proportion of immature b cell" ], "alt_id": [], "def": "A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).", "synonym": [ [ "abnormal proportion of cd19+ / cd21low b cells", "abnormal proportion of cd19+ / cd21low b cell" ] ], "xref": [ "UMLS:C4072915" ], "is_a": [ "HP:0025539" ], "is_obsolete": "", "replace_id": "" }, "HP:0030377": { "name": [ "increased proportion of immature b cells", "increase proportion of immature b cell" ], "alt_id": [], "def": "An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).", "synonym": [ [ "increased proportion of cd19+ / cd21low b cells", "increase proportion of cd19+ / cd21low b cell" ] ], "xref": [ "UMLS:C4072916" ], "is_a": [ "HP:0030376" ], "is_obsolete": "", "replace_id": "" }, "HP:0030378": { "name": [ "decreased proportion of immature b cells", "decreased proportion of immature b cell" ], "alt_id": [], "def": "A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).", "synonym": [ [ "decreased proportion of cd19+ / cd21low b cells", "decreased proportion of cd19+ / cd21low b cell" ] ], "xref": [ "UMLS:C4072917" ], "is_a": [ "HP:0030376" ], "is_obsolete": "", "replace_id": "" }, "HP:0030379": { "name": [ "abnormal proportion of transitional b cells", "abnormal proportion of transitional b cell" ], "alt_id": [], "def": "A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.", "synonym": [ [ "abnormal proportion of cd19+cd38+igm+ cells", "abnormal proportion of cd19+cd38+igm+ cell" ] ], "xref": [ "UMLS:C4072918" ], "is_a": [ "HP:0025539" ], "is_obsolete": "", "replace_id": "" }, "HP:0030380": { "name": [ "decreased proportion of transitional b cells", "decreased proportion of transitional b cell" ], "alt_id": [], "def": "A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.", "synonym": [ [ "decreased proportion of cd19+cd38+igm+ cells", "decreased proportion of cd19+cd38+igm+ cell" ] ], "xref": [ "UMLS:C4072919" ], "is_a": [ "HP:0030379" ], "is_obsolete": "", "replace_id": "" }, "HP:0030381": { "name": [ "increased proportion of transitional b cells", "increase proportion of transitional b cell" ], "alt_id": [], "def": "An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.", "synonym": [ [ "increased proportion of cd19+cd38+igm+ cells", "increase proportion of cd19+cd38+igm+ cell" ] ], "xref": [ "UMLS:C4072920" ], "is_a": [ "HP:0030379" ], "is_obsolete": "", "replace_id": "" }, "HP:0030383": { "name": [ "abnormal proportion of marginal zone b cells", "abnormal proportion of marginal zone b cell" ], "alt_id": [], "def": "A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.", "synonym": [], "xref": [ "UMLS:C4072921" ], "is_a": [ "HP:0030373" ], "is_obsolete": "", "replace_id": "" }, "HP:0030384": { "name": [ "decreased proportion of marginal zone b cells", "decreased proportion of marginal zone b cell" ], "alt_id": [], "def": "A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.", "synonym": [], "xref": [ "UMLS:C4072922" ], "is_a": [ "HP:0030383" ], "is_obsolete": "", "replace_id": "" }, "HP:0030385": { "name": [ "increased proportion of marginal zone b cells", "increase proportion of marginal zone b cell" ], "alt_id": [], "def": "An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.", "synonym": [], "xref": [ "UMLS:C4072923" ], "is_a": [ "HP:0030383" ], "is_obsolete": "", "replace_id": "" }, "HP:0030386": { "name": [ "abnormal proportion of class - switched memory b cells", "abnormal proportion of class - switched memory b cell" ], "alt_id": [], "def": "A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.", "synonym": [ [ "abnormal proportion of cd19+cd27+igd - cells", "abnormal proportion of cd19+cd27+igd - cell" ] ], "xref": [ "UMLS:C4072924" ], "is_a": [ "HP:0030373" ], "is_obsolete": "", "replace_id": "" }, "HP:0030387": { "name": [ "increased proportion of class - switched memory b cells", "increase proportion of class - switched memory b cell" ], "alt_id": [], "def": "An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.", "synonym": [ [ "increased proportion of cd19+cd27+igd - cells", "increase proportion of cd19+cd27+igd - cell" ] ], "xref": [ "UMLS:C4073288" ], "is_a": [ "HP:0030375", "HP:0030386" ], "is_obsolete": "", "replace_id": "" }, "HP:0030388": { "name": [ "decreased proportion of class - switched memory b cells", "decreased proportion of class - switched memory b cell" ], "alt_id": [], "def": "A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.", "synonym": [ [ "decreased proportion of cd19+cd27+igd - cells", "decreased proportion of cd19+cd27+igd - cell" ] ], "xref": [ "UMLS:C4072925" ], "is_a": [ "HP:0030374", "HP:0030386" ], "is_obsolete": "", "replace_id": "" }, "HP:0030389": { "name": [ "abnormal circulating thromboxane concentration", "abnormal circulate thromboxane concentration" ], "alt_id": [], "def": "Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels.", "synonym": [], "xref": [ "UMLS:C4072926" ], "is_a": [ "HP:0030361" ], "is_obsolete": "", "replace_id": "" }, "HP:0030390": { "name": [ "reduced circulating leukotriene c4 concentration", "reduce circulate leukotriene c4 concentration" ], "alt_id": [], "def": "An abnormally decreased concentration of leukotriene C4 in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4072927" ], "is_a": [ "HP:0030361" ], "is_obsolete": "", "replace_id": "" }, "HP:0030391": { "name": [ "spoken word recognition deficit", "speak word recognition deficit" ], "alt_id": [], "def": "Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.", "synonym": [], "xref": [ "UMLS:C4072928" ], "is_a": [ "HP:0002463" ], "is_obsolete": "", "replace_id": "" }, "HP:0030392": { "name": [ "choroid plexus carcinoma", "choroid plexus carcinoma" ], "alt_id": [], "def": "Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III.", "synonym": [], "xref": [ "MSH:C562943", "SNOMEDCT_US:88252006", "UMLS:C0431109" ], "is_a": [ "HP:0007376", "HP:0100836" ], "is_obsolete": "", "replace_id": "" }, "HP:0030393": { "name": [ "endolymphatic sac tumor", "endolymphatic sac tumor" ], "alt_id": [], "def": "A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin).", "synonym": [ [ "aggressive papillary middle ear tumor", "aggressive papillary middle ear tumor" ], [ "aggressive papillary middle ear tumour", "aggressive papillary middle ear tumour" ], [ "endolymphatic sac tumour", "endolymphatic sac tumour" ], [ "heffner tumor", "heffner tumor" ], [ "heffner tumour", "heffner tumour" ], [ "low - grade adenocarcinoma of endolymphatic sac origin", "low - grade adenocarcinoma of endolymphatic sac origin" ] ], "xref": [ "SNOMEDCT_US:699817008", "UMLS:C2348239" ], "is_a": [ "HP:0040096" ], "is_obsolete": "", "replace_id": "" }, "HP:0030394": { "name": [ "fallopian tube carcinoma", "fallopian tube carcinoma" ], "alt_id": [], "def": "Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk.", "synonym": [], "xref": [ "MSH:D005185", "SNOMEDCT_US:276870001", "UMLS:C0238122" ], "is_a": [ "HP:0033020" ], "is_obsolete": "", "replace_id": "" }, "HP:0030396": { "name": [ "abnormal platelet granule secretion", "abnormal platelet granule secretion" ], "alt_id": [], "def": "Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion.", "synonym": [], "xref": [ "UMLS:C4072929" ], "is_a": [ "HP:0011869" ], "is_obsolete": "", "replace_id": "" }, "HP:0030397": { "name": [ "abnormal platelet dense granule secretion", "abnormal platelet dense granule secretion" ], "alt_id": [], "def": "Abnormal release of dense granules from platelets.", "synonym": [], "xref": [ "UMLS:C4072930" ], "is_a": [ "HP:0030396" ], "is_obsolete": "", "replace_id": "" }, "HP:0030398": { "name": [ "abnormal platelet atp dense granule secretion", "abnormal platelet atp dense granule secretion" ], "alt_id": [], "def": "Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP).", "synonym": [], "xref": [ "UMLS:C4072931" ], "is_a": [ "HP:0030397" ], "is_obsolete": "", "replace_id": "" }, "HP:0030399": { "name": [ "abnormal platelet alpha granule secretion", "abnormal platelet alpha granule secretion" ], "alt_id": [], "def": "Abnormal release of alpha granule contents from platelets.", "synonym": [], "xref": [ "UMLS:C4072932" ], "is_a": [ "HP:0030396" ], "is_obsolete": "", "replace_id": "" }, "HP:0030400": { "name": [ "abnormal platelet lysosome secretion", "abnormal platelet lysosome secretion" ], "alt_id": [], "def": "Abnormal release of lysosome contents from platelets.", "synonym": [], "xref": [ "UMLS:C4072933" ], "is_a": [ "HP:0030396" ], "is_obsolete": "", "replace_id": "" }, "HP:0030401": { "name": [ "abnormal platelet dense granule atp / adp ratio", "abnormal platelet dense granule atp / adp ratio" ], "alt_id": [], "def": "Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets.", "synonym": [], "xref": [ "UMLS:C4072934" ], "is_a": [ "HP:0012484" ], "is_obsolete": "", "replace_id": "" }, "HP:0030402": { "name": [ "abnormal platelet aggregation", "abnormal platelet aggregation" ], "alt_id": [], "def": "An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.", "synonym": [], "xref": [ "UMLS:C0541767" ], "is_a": [ "HP:0011869" ], "is_obsolete": "", "replace_id": "" }, "HP:0030403": { "name": [ "spontaneous platelet aggregation", "spontaneous platelet aggregation" ], "alt_id": [], "def": "Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.", "synonym": [], "xref": [ "MSH:C566800", "UMLS:C1868263" ], "is_a": [ "HP:0030402" ], "is_obsolete": "", "replace_id": "" }, "HP:0030404": { "name": [ "glucagonoma", "glucagonoma" ], "alt_id": [], "def": "An endocrine tumor of the pancreas that secretes excessive amounts of glucagon.", "synonym": [], "xref": [ "MSH:D005935", "SNOMEDCT_US:128855009", "SNOMEDCT_US:16424000", "SNOMEDCT_US:302823005", "UMLS:C0017689" ], "is_a": [ "HP:0030405" ], "is_obsolete": "", "replace_id": "" }, "HP:0030405": { "name": [ "pancreatic endocrine tumor", "pancreatic endocrine tumor" ], "alt_id": [], "def": "A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas.", "synonym": [ [ "pancreatic endocrine tumour", "pancreatic endocrine tumour" ] ], "xref": [ "MSH:D007516", "SNOMEDCT_US:126864006", "SNOMEDCT_US:128878003", "SNOMEDCT_US:237596009", "SNOMEDCT_US:399528006", "SNOMEDCT_US:76345009", "UMLS:C0242363" ], "is_a": [ "HP:0100634" ], "is_obsolete": "", "replace_id": "" }, "HP:0030406": { "name": [ "primary peritoneal carcinoma", "primary peritoneal carcinoma" ], "alt_id": [], "def": "A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum.", "synonym": [], "xref": [ "UMLS:C1514428" ], "is_a": [ "HP:0007378" ], "is_obsolete": "", "replace_id": "" }, "HP:0030407": { "name": [ "pineocytoma", "pineocytoma" ], "alt_id": [], "def": "A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I).", "synonym": [], "xref": [ "MSH:D010871", "NCIT:C6966", "SNOMEDCT_US:255045009", "SNOMEDCT_US:89096009", "UMLS:C0917890" ], "is_a": [ "HP:0030694" ], "is_obsolete": "", "replace_id": "" }, "HP:0030408": { "name": [ "pineoblastoma", "pineoblastoma" ], "alt_id": [ "HP:0040193" ], "def": "Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells.", "synonym": [ [ "pinealoblastoma", "pinealoblastoma" ] ], "xref": [ "MSH:D010871", "SNOMEDCT_US:31671006", "UMLS:C0205898" ], "is_a": [ "HP:0030694" ], "is_obsolete": "", "replace_id": "" }, "HP:0030409": { "name": [ "renal transitional cell carcinoma", "renal transitional cell carcinoma" ], "alt_id": [], "def": "A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice.", "synonym": [ [ "renal tcc", "renal tcc" ], [ "renal urothelial carcinoma", "renal urothelial carcinoma" ], [ "transitional renal cell carcinoma", "transitional renal cell carcinoma" ] ], "xref": [ "SNOMEDCT_US:408642003", "UMLS:C1319314" ], "is_a": [ "HP:0009726" ], "is_obsolete": "", "replace_id": "" }, "HP:0030410": { "name": [ "sebaceous gland carcinoma", "sebaceous gland carcinoma" ], "alt_id": [], "def": "A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance)", "synonym": [ [ "sebaceous carcinoma", "sebaceous carcinoma" ] ], "xref": [ "MSH:D018266", "SNOMEDCT_US:307599002", "SNOMEDCT_US:54734006", "UMLS:C0206684" ], "is_a": [ "HP:0012842" ], "is_obsolete": "", "replace_id": "" }, "HP:0030411": { "name": [ "jejunal adenocarcinoma", "jejunal adenocarcinoma" ], "alt_id": [], "def": "A malignant epithelial tumor with a glandular organization that originates in the jejunum.", "synonym": [], "xref": [ "NCIT:C2852", "UMLS:C4072935" ], "is_a": [ "HP:0040274" ], "is_obsolete": "", "replace_id": "" }, "HP:0030412": { "name": [ "ileal adenocarcinoma", "ileal adenocarcinoma" ], "alt_id": [], "def": "A malignant epithelial tumor with a glandular organization that originates in the ileum.", "synonym": [], "xref": [ "NCIT:C2852", "UMLS:C4072936" ], "is_a": [ "HP:0040274" ], "is_obsolete": "", "replace_id": "" }, "HP:0030413": { "name": [ "squamous cell carcinoma of the tongue", "squamous cell carcinoma of the tongue" ], "alt_id": [], "def": "A carcinoma derived from a squamous epithelial cell of the tongue.", "synonym": [], "xref": [ "SNOMEDCT_US:276952000", "UMLS:C0349566" ], "is_a": [ "HP:0100648" ], "is_obsolete": "", "replace_id": "" }, "HP:0030414": { "name": [ "verrucous cell carcinoma of the tongue", "verrucous cell carcinoma of the tongue" ], "alt_id": [], "def": "A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.", "synonym": [], "xref": [ "UMLS:C4072937" ], "is_a": [ "HP:0030413" ], "is_obsolete": "", "replace_id": "" }, "HP:0030415": { "name": [ "sarcomatoid carcinoma of the tongue", "sarcomatoid carcinoma of the tongue" ], "alt_id": [], "def": "Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation.", "synonym": [ [ "spindle cell carcinoma of the tongue", "spindle cell carcinoma of the tongue" ] ], "xref": [ "UMLS:C2018408" ], "is_a": [ "HP:0030413" ], "is_obsolete": "", "replace_id": "" }, "HP:0030416": { "name": [ "vulvar neoplasm", "vulvar neoplasm" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the female external genital tract (vulva).", "synonym": [ [ "neoplasm of the vulva", "neoplasm of the vulva" ], [ "tumor of the vulva", "tumor of the vulva" ], [ "tumour of the vulva", "tumour of the vulva" ] ], "xref": [ "MSH:D014846", "NCIT:C3262", "SNOMEDCT_US:126922007", "UMLS:C0042995" ], "is_a": [ "HP:0033020" ], "is_obsolete": "", "replace_id": "" }, "HP:0030417": { "name": [ "squamous cell carcinoma of the vulva", "squamous cell carcinoma of the vulva" ], "alt_id": [], "def": "A cancer that originates in the squamous cells that line the surface of the vulva.", "synonym": [ [ "vulval squamous cell carcinoma", "vulval squamous cell carcinoma" ] ], "xref": [ "SNOMEDCT_US:254895003", "UMLS:C0280856" ], "is_a": [ "HP:0030416" ], "is_obsolete": "", "replace_id": "" }, "HP:0030418": { "name": [ "vulvar melanoma", "vulvar melanoma" ], "alt_id": [], "def": "A type of vulvar cancer that originates from melanocytes of the vulva.", "synonym": [], "xref": [ "SNOMEDCT_US:254896002", "UMLS:C0241989" ], "is_a": [ "HP:0030416" ], "is_obsolete": "", "replace_id": "" }, "HP:0030419": { "name": [ "bartholin gland carcinoma", "bartholin gland carcinoma" ], "alt_id": [], "def": "A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina.", "synonym": [], "xref": [ "SNOMEDCT_US:276876007", "SNOMEDCT_US:399533005", "UMLS:C0349561" ], "is_a": [ "HP:0030416" ], "is_obsolete": "", "replace_id": "" }, "HP:0030420": { "name": [ "vulvar adenocarcinoma", "vulvar adenocarcinoma" ], "alt_id": [], "def": "An adenocarcinoma arising in the vulva.", "synonym": [], "xref": [ "UMLS:C1336975" ], "is_a": [ "HP:0030416" ], "is_obsolete": "", "replace_id": "" }, "HP:0030421": { "name": [ "epididymal neoplasm", "epididymal neoplasm" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens.", "synonym": [], "xref": [ "NCIT:C3262", "SNOMEDCT_US:126902008", "UMLS:C0346239" ], "is_a": [ "HP:0010785" ], "is_obsolete": "", "replace_id": "" }, "HP:0030422": { "name": [ "obsolete papillary cystadenoma of the epididymis", "obsolete papillary cystadenoma of the epididymis" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0009715" }, "HP:0030423": { "name": [ "splenic cyst", "splenic cyst" ], "alt_id": [], "def": "A closed sac located in the spleen.", "synonym": [ [ "cyst on spleen", "cyst on spleen" ] ], "xref": [ "SNOMEDCT_US:79040006", "UMLS:C0272407" ], "is_a": [ "HP:0025408" ], "is_obsolete": "", "replace_id": "" }, "HP:0030424": { "name": [ "epididymal cyst", "epididymal cyst" ], "alt_id": [], "def": "A smooth, extratesticular, spherical cyst in the head of the epididymis.", "synonym": [ [ "epididymal cysts", "epididymal cyst" ] ], "xref": [ "MSH:D013088", "SNOMEDCT_US:43077002", "SNOMEDCT_US:49263001", "UMLS:C0037859" ], "is_a": [ "HP:0009714" ], "is_obsolete": "", "replace_id": "" }, "HP:0030425": { "name": [ "calcified ovarian cyst", "calcified ovarian cyst" ], "alt_id": [], "def": "A cyst of the ovary that exhibits deposition of calcium salts.", "synonym": [], "xref": [ "UMLS:C4072939" ], "is_a": [ "HP:0000138" ], "is_obsolete": "", "replace_id": "" }, "HP:0030426": { "name": [ "ossifying fibroma", "ossify fibroma" ], "alt_id": [], "def": "A benign central bone tumor composed of fibrous connective tissue within which bone is formed.", "synonym": [], "xref": [ "MSH:D018214", "SNOMEDCT_US:25603007", "SNOMEDCT_US:302862001", "SNOMEDCT_US:302863006", "SNOMEDCT_US:80699009", "UMLS:C0206640" ], "is_a": [ "HP:0010614" ], "is_obsolete": "", "replace_id": "" }, "HP:0030427": { "name": [ "ossifying fibroma of the jaw", "ossify fibroma of the jaw" ], "alt_id": [], "def": "A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed.", "synonym": [], "xref": [ "UMLS:C4072940" ], "is_a": [ "HP:0012290", "HP:0030426" ], "is_obsolete": "", "replace_id": "" }, "HP:0030428": { "name": [ "cutaneous myxoma", "cutaneous myxoma" ], "alt_id": [], "def": "A myxoma originating in the skin.", "synonym": [], "xref": [ "NCIT:C6577", "UMLS:C1333178" ], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0030429": { "name": [ "juvenile nasopharyngeal angiofibroma", "juvenile nasopharyngeal angiofibroma" ], "alt_id": [], "def": "A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity.", "synonym": [], "xref": [ "SNOMEDCT_US:60392001", "SNOMEDCT_US:716590006", "UMLS:C1367536" ], "is_a": [ "HP:0012288" ], "is_obsolete": "", "replace_id": "" }, "HP:0030430": { "name": [ "neuroma", "neuroma" ], "alt_id": [], "def": "A tumor made up of nerve cells and nerve fibers.", "synonym": [ [ "nerve tumor", "nerve tumor" ], [ "nerve tumour", "nerve tumour" ], [ "pinched nerve", "pinch nerve" ] ], "xref": [ "MSH:D009463", "SNOMEDCT_US:25169009", "SNOMEDCT_US:274089002", "SNOMEDCT_US:443892003", "SNOMEDCT_US:84116009", "UMLS:C0027858", "UMLS:C0273482" ], "is_a": [ "HP:0100007" ], "is_obsolete": "", "replace_id": "" }, "HP:0030431": { "name": [ "osteochondroma", "osteochondroma" ], "alt_id": [], "def": "A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.", "synonym": [ [ "osteocartilaginous exostoses", "osteocartilaginous exostosis" ], [ "osteochondromas", "osteochondroma" ] ], "xref": [ "MSH:D015831", "SNOMEDCT_US:307573009", "SNOMEDCT_US:443093007", "SNOMEDCT_US:52299001", "UMLS:C0029423" ], "is_a": [ "HP:0010622" ], "is_obsolete": "", "replace_id": "" }, "HP:0030432": { "name": [ "chondroblastoma", "chondroblastoma" ], "alt_id": [], "def": "A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells.", "synonym": [], "xref": [ "MSH:D002804", "SNOMEDCT_US:9001003", "UMLS:C0008441" ], "is_a": [ "HP:0010622" ], "is_obsolete": "", "replace_id": "" }, "HP:0030433": { "name": [ "osteoid osteoma", "osteoid osteoma" ], "alt_id": [], "def": "A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone.", "synonym": [], "xref": [ "MSH:D010017", "SNOMEDCT_US:302859004", "SNOMEDCT_US:71666005", "UMLS:C0029441" ], "is_a": [ "HP:0100246" ], "is_obsolete": "", "replace_id": "" }, "HP:0030434": { "name": [ "pilomatrixoma", "pilomatrixoma" ], "alt_id": [], "def": "Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm.", "synonym": [], "xref": [ "MSH:D018296", "SNOMEDCT_US:274901004", "SNOMEDCT_US:44155009", "UMLS:C0206711" ], "is_a": [ "HP:0012842" ], "is_obsolete": "", "replace_id": "" }, "HP:0030436": { "name": [ "fibrofolliculoma", "fibrofolliculoma" ], "alt_id": [], "def": "Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.", "synonym": [ [ "fibrofolliculomas", "fibrofolliculomas" ] ], "xref": [ "SNOMEDCT_US:128683008", "SNOMEDCT_US:254699007", "UMLS:C0346011" ], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0030437": { "name": [ "anal canal neoplasm", "anal canal neoplasm" ], "alt_id": [], "def": "", "synonym": [ [ "anal canal tumor", "anal canal tumor" ], [ "anal canal tumour", "anal canal tumour" ] ], "xref": [ "NCIT:C3262", "SNOMEDCT_US:126850006", "UMLS:C0345883" ], "is_a": [ "HP:0004378", "HP:0100834" ], "is_obsolete": "", "replace_id": "" }, "HP:0030438": { "name": [ "anal canal squamous cell carcinoma", "anal canal squamous cell carcinoma" ], "alt_id": [], "def": "A squamous cell carcinoma that originates in the anal canal.", "synonym": [], "xref": [ "UMLS:C1332262" ], "is_a": [ "HP:0030437" ], "is_obsolete": "", "replace_id": "" }, "HP:0030439": { "name": [ "anal canal adenocarcinoma", "anal canal adenocarcinoma" ], "alt_id": [], "def": "An adenoma carcinoma that originates in the anal canal.", "synonym": [], "xref": [ "NCIT:C2852", "UMLS:C1332259" ], "is_a": [ "HP:0030437", "HP:0040275" ], "is_obsolete": "", "replace_id": "" }, "HP:0030440": { "name": [ "anal margin neoplasm", "anal margin neoplasm" ], "alt_id": [], "def": "A tumor of the anal margin.", "synonym": [], "xref": [ "UMLS:C2064234" ], "is_a": [ "HP:0004378", "HP:0007378" ], "is_obsolete": "", "replace_id": "" }, "HP:0030441": { "name": [ "anal margin paget 's disease", "anal margin paget 's disease" ], "alt_id": [], "def": "An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells.", "synonym": [], "xref": [ "UMLS:C1332270" ], "is_a": [ "HP:0030440" ], "is_obsolete": "", "replace_id": "" }, "HP:0030442": { "name": [ "anal margin squamous cell carcinoma", "anal margin squamous cell carcinoma" ], "alt_id": [], "def": "A squamous cell carcinoma that originates in the skin of the anal margin.", "synonym": [], "xref": [ "SNOMEDCT_US:255084004", "UMLS:C1412037" ], "is_a": [ "HP:0030440" ], "is_obsolete": "", "replace_id": "" }, "HP:0030443": { "name": [ "anal margin basal cell carcinoma", "anal margin basal cell carcinoma" ], "alt_id": [], "def": "A basal cell carcinoma that originates in the anal margin.", "synonym": [], "xref": [ "UMLS:C1332269" ], "is_a": [ "HP:0030440" ], "is_obsolete": "", "replace_id": "" }, "HP:0030444": { "name": [ "anal margin melanoma", "anal margin melanoma" ], "alt_id": [], "def": "A melanoma that originates in the anal margin.", "synonym": [], "xref": [ "UMLS:C4072941" ], "is_a": [ "HP:0030440" ], "is_obsolete": "", "replace_id": "" }, "HP:0030445": { "name": [ "pulmonary carcinoid tumor", "pulmonary carcinoid tumor" ], "alt_id": [], "def": "A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma.", "synonym": [ [ "lung carcinoid tumor", "lung carcinoid tumor" ], [ "lung carcinoid tumour", "lung carcinoid tumour" ], [ "pulmonary carcinoid tumour", "pulmonary carcinoid tumour" ] ], "xref": [ "SNOMEDCT_US:254627002", "UMLS:C0280089" ], "is_a": [ "HP:0100570" ], "is_obsolete": "", "replace_id": "" }, "HP:0030446": { "name": [ "atypical pulmonary carcinoid tumor", "atypical pulmonary carcinoid tumor" ], "alt_id": [], "def": "", "synonym": [ [ "atypical pulmonary carcinoid tumour", "atypical pulmonary carcinoid tumour" ] ], "xref": [ "UMLS:C4072942" ], "is_a": [ "HP:0030445" ], "is_obsolete": "", "replace_id": "" }, "HP:0030447": { "name": [ "merkel cell skin cancer", "merkel cell skin cancer" ], "alt_id": [], "def": "A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features.", "synonym": [ [ "anaplastic carcinoma of the skin", "anaplastic carcinoma of the skin" ], [ "cutaneous apudoma", "cutaneous apudoma" ], [ "merkel cell cancer of the skin", "merkel cell cancer of the skin" ], [ "neuroendocrine carcinoma of the skin", "neuroendocrine carcinoma of the skin" ], [ "neuroendocrine tumor of the skin", "neuroendocrine tumor of the skin" ], [ "neuroendocrine tumour of the skin", "neuroendocrine tumour of the skin" ], [ "primary small cell carcinoma of the skin", "primary small cell carcinoma of the skin" ], [ "primary undifferentiated carcinoma of the skin", "primary undifferentiated carcinoma of the skin" ] ], "xref": [ "MSH:D015266", "SNOMEDCT_US:253001006", "SNOMEDCT_US:254729005", "SNOMEDCT_US:5052009", "UMLS:C0007129" ], "is_a": [ "HP:0008069", "HP:0040192" ], "is_obsolete": "", "replace_id": "" }, "HP:0030448": { "name": [ "soft tissue sarcoma", "soft tissue sarcoma" ], "alt_id": [], "def": "A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues.", "synonym": [ [ "soft tissue sarcomas", "soft tissue sarcoma" ] ], "xref": [ "MSH:D012509", "SNOMEDCT_US:2424003", "SNOMEDCT_US:269469005", "SNOMEDCT_US:424413001", "SNOMEDCT_US:424952003", "UMLS:C1261473" ], "is_a": [ "HP:0100242" ], "is_obsolete": "", "replace_id": "" }, "HP:0030449": { "name": [ "therapeutic abortion", "therapeutic abortion" ], "alt_id": [], "def": "Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice.", "synonym": [], "xref": [ "MSH:D000032", "SNOMEDCT_US:386641000", "UMLS:C0000820" ], "is_a": [ "HP:0001787" ], "is_obsolete": "", "replace_id": "" }, "HP:0030450": { "name": [ "neuroplasm of the autonomic nervous system", "neuroplasm of the autonomic nervous system" ], "alt_id": [], "def": "A tumor that arises from an element of the autonomic nervous system.", "synonym": [], "xref": [ "NCIT:C5112", "UMLS:C4072943" ], "is_a": [ "HP:0100007" ], "is_obsolete": "", "replace_id": "" }, "HP:0030451": { "name": [ "mesenteric cyst", "mesenteric cyst" ], "alt_id": [], "def": "A closed fluid filled sac originating from the mesentary.", "synonym": [], "xref": [ "MSH:D008639", "SNOMEDCT_US:253802003", "SNOMEDCT_US:27970007", "UMLS:C0025467" ], "is_a": [ "HP:0100016" ], "is_obsolete": "", "replace_id": "" }, "HP:0030452": { "name": [ "chylolymphatic mesenteric cyst", "chylolymphatic mesenteric cyst" ], "alt_id": [], "def": "A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid.", "synonym": [], "xref": [ "UMLS:C4072944" ], "is_a": [ "HP:0030451" ], "is_obsolete": "", "replace_id": "" }, "HP:0030453": { "name": [ "abnormal visual electrophysiology", "abnormal visual electrophysiology" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072945" ], "is_a": [ "HP:0012373" ], "is_obsolete": "", "replace_id": "" }, "HP:0030454": { "name": [ "abnormal electrooculogram", "abnormal electrooculogram" ], "alt_id": [], "def": "The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation.", "synonym": [ [ "abnormal eog", "abnormal eog" ] ], "xref": [ "SNOMEDCT_US:442770004", "UMLS:C0159104" ], "is_a": [ "HP:0030453" ], "is_obsolete": "", "replace_id": "" }, "HP:0030455": { "name": [ "abnormality of pattern visual evoked potentials", "abnormality of pattern visual evoke potential" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072946" ], "is_a": [ "HP:0000649" ], "is_obsolete": "", "replace_id": "" }, "HP:0030456": { "name": [ "abnormality of pattern onset / offset visual evoked potentials", "abnormality of pattern onset / offset visual evoked potential" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of pattern onset / offset vep", "abnormality of pattern onset / offset vep" ] ], "xref": [ "UMLS:C4072947" ], "is_a": [ "HP:0030455" ], "is_obsolete": "", "replace_id": "" }, "HP:0030457": { "name": [ "abnormal amplitude of pattern onset / offset visual evoked potentials", "abnormal amplitude of pattern onset / offset visual evoked potential" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal amplitude of pattern onset / offset vep", "abnormal amplitude of pattern onset / offset vep" ] ], "xref": [ "UMLS:C4072948" ], "is_a": [ "HP:0030456" ], "is_obsolete": "", "replace_id": "" }, "HP:0030458": { "name": [ "abnormal timing of pattern onset / offset visual evoked potentials", "abnormal timing of pattern onset / offset visual evoked potential" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072949" ], "is_a": [ "HP:0030456" ], "is_obsolete": "", "replace_id": "" }, "HP:0030460": { "name": [ "abnormal timing of pattern reversal visual evoked potentials", "abnormal timing of pattern reversal visual evoke potential" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072950" ], "is_a": [ "HP:0100289" ], "is_obsolete": "", "replace_id": "" }, "HP:0030461": { "name": [ "abnormal timing of flash visual evoked potentials", "abnormal timing of flash visual evoke potential" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072951" ], "is_a": [ "HP:0007928" ], "is_obsolete": "", "replace_id": "" }, "HP:0030462": { "name": [ "abnormal amplitude of flash visual evoked potentials", "abnormal amplitude of flash visual evoke potential" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072952" ], "is_a": [ "HP:0007928" ], "is_obsolete": "", "replace_id": "" }, "HP:0030463": { "name": [ "asymmetrical distribution of flash visual evoked potentials", "asymmetrical distribution of flash visual evoke potential" ], "alt_id": [], "def": "", "synonym": [ [ "crossed asymmetry of flash visual evoked potentials", "crossed asymmetry of flash visual evoke potential" ] ], "xref": [ "UMLS:C4072953" ], "is_a": [ "HP:0007928" ], "is_obsolete": "", "replace_id": "" }, "HP:0030464": { "name": [ "asymmetrical distribution of pattern reversal visual evoked potentials", "asymmetrical distribution of pattern reversal visual evoke potential" ], "alt_id": [], "def": "", "synonym": [ [ "crossed asymmetry of pattern reversal visual evoked potentials", "crossed asymmetry of pattern reversal visual evoke potential" ] ], "xref": [ "UMLS:C4072954" ], "is_a": [ "HP:0100289" ], "is_obsolete": "", "replace_id": "" }, "HP:0030465": { "name": [ "undetectable light - adapted electroretinogram", "undetectable light - adapt electroretinogram" ], "alt_id": [], "def": "No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells.", "synonym": [ [ "absent photopic ( cone ) responses on erg", "absent photopic ( cone ) responses on erg" ], [ "non - detectable photopic erg", "non - detectable photopic erg" ] ], "xref": [ "UMLS:C4072955" ], "is_a": [ "HP:0008275" ], "is_obsolete": "", "replace_id": "" }, "HP:0030466": { "name": [ "abnormal full - field electroretinogram", "abnormal full - field electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072956" ], "is_a": [ "HP:0000512" ], "is_obsolete": "", "replace_id": "" }, "HP:0030467": { "name": [ "abnormal pattern electroretinogram", "abnormal pattern electroretinogram" ], "alt_id": [], "def": "An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light.", "synonym": [], "xref": [ "UMLS:C4072957" ], "is_a": [ "HP:0000512" ], "is_obsolete": "", "replace_id": "" }, "HP:0030468": { "name": [ "abnormal multifocal electroretinogram", "abnormal multifocal electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072958" ], "is_a": [ "HP:0000512" ], "is_obsolete": "", "replace_id": "" }, "HP:0030469": { "name": [ "abnormal dark - adapted electroretinogram", "abnormal dark - adapt electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072959" ], "is_a": [ "HP:0030466" ], "is_obsolete": "", "replace_id": "" }, "HP:0030470": { "name": [ "abnormal dark - adapted bright flash electroretinogram", "abnormal dark - adapted bright flash electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072960" ], "is_a": [ "HP:0030469" ], "is_obsolete": "", "replace_id": "" }, "HP:0030471": { "name": [ "abnormal dark - adapted dim flash electroretinogram", "abnormal dark - adapt dim flash electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072961" ], "is_a": [ "HP:0030469" ], "is_obsolete": "", "replace_id": "" }, "HP:0030472": { "name": [ "abnormal light - adapted single flash electroretinogram", "abnormal light - adapt single flash electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072962" ], "is_a": [ "HP:0008275" ], "is_obsolete": "", "replace_id": "" }, "HP:0030473": { "name": [ "abnormal light - adapted flicker electroretinogram", "abnormal light - adapt flicker electroretinogram" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal light - adapted 30hz flicker electroretinogram", "abnormal light - adapt 30hz flicker electroretinogram" ], [ "abnormal light - adapted 30hz flicker erg", "abnormal light - adapt 30hz flicker erg" ], [ "abnormal light - adapted flicker electroretinogram", "abnormal light - adapt flicker electroretinogram" ], [ "abnormal light - adapted flicker erg", "abnormal light - adapt flicker erg" ] ], "xref": [ "UMLS:C4072963" ], "is_a": [ "HP:0008275" ], "is_obsolete": "", "replace_id": "" }, "HP:0030474": { "name": [ "undetectable dark - adapted electroretinogram", "undetectable dark - adapt electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072964" ], "is_a": [ "HP:0030469" ], "is_obsolete": "", "replace_id": "" }, "HP:0030475": { "name": [ "abnormal timing of dark - adapted dim flash electroretinogram", "abnormal timing of dark - adapted dim flash electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072965" ], "is_a": [ "HP:0030471" ], "is_obsolete": "", "replace_id": "" }, "HP:0030476": { "name": [ "abnormal amplitude of dark - adapted dim flash electroretinogram", "abnormal amplitude of dark - adapted dim flash electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072966" ], "is_a": [ "HP:0030471" ], "is_obsolete": "", "replace_id": "" }, "HP:0030477": { "name": [ "abnormal timing of dark - adapted bright flash electroretinogram", "abnormal timing of dark - adapted bright flash electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072967" ], "is_a": [ "HP:0030470" ], "is_obsolete": "", "replace_id": "" }, "HP:0030478": { "name": [ "abnormal amplitude of dark - adapted bright flash electroretinogram", "abnormal amplitude of dark - adapted bright flash electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072968" ], "is_a": [ "HP:0030470" ], "is_obsolete": "", "replace_id": "" }, "HP:0030479": { "name": [ "abnormal amplitude of light - adapted flicker electroretinogram", "abnormal amplitude of light - adapt flicker electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072969" ], "is_a": [ "HP:0030473" ], "is_obsolete": "", "replace_id": "" }, "HP:0030480": { "name": [ "abnormal timing of light - adapted flicker electroretinogram", "abnormal timing of light - adapt flicker electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072970" ], "is_a": [ "HP:0030473" ], "is_obsolete": "", "replace_id": "" }, "HP:0030481": { "name": [ "abnormal amplitude of light - adapted single flash electroretinogram", "abnormal amplitude of light - adapt single flash electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072971" ], "is_a": [ "HP:0030472" ], "is_obsolete": "", "replace_id": "" }, "HP:0030482": { "name": [ "abnormal timing of light - adapted single flash electroretinogram", "abnormal timing of light - adapt single flash electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072972" ], "is_a": [ "HP:0030472" ], "is_obsolete": "", "replace_id": "" }, "HP:0030483": { "name": [ "reduced amplitude of dark - adapted bright flash electroretinogram a - wave", "reduce amplitude of dark - adapted bright flash electroretinogram a - wave" ], "alt_id": [], "def": "An abnormal reduction in the amplitude of the a-wave.", "synonym": [], "xref": [ "UMLS:C4072973" ], "is_a": [ "HP:0030478" ], "is_obsolete": "", "replace_id": "" }, "HP:0030484": { "name": [ "supernormal dark - adapted bright flash electroretinogram b - wave", "supernormal dark - adapted bright flash electroretinogram b - wave" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072974" ], "is_a": [ "HP:0030478" ], "is_obsolete": "", "replace_id": "" }, "HP:0030485": { "name": [ "abnormal amplitude of pattern electroretinogram", "abnormal amplitude of pattern electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072975" ], "is_a": [ "HP:0030467" ], "is_obsolete": "", "replace_id": "" }, "HP:0030486": { "name": [ "abnormal timing of pattern electroretinogram", "abnormal timing of pattern electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072976" ], "is_a": [ "HP:0030467" ], "is_obsolete": "", "replace_id": "" }, "HP:0030487": { "name": [ "abnormal p50 / n95 ratio of pattern electroretinogram", "abnormal p50 / n95 ratio of pattern electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072977" ], "is_a": [ "HP:0030467" ], "is_obsolete": "", "replace_id": "" }, "HP:0030488": { "name": [ "abnormal central response of multifocal electroretinogram", "abnormal central response of multifocal electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072978" ], "is_a": [ "HP:0030468" ], "is_obsolete": "", "replace_id": "" }, "HP:0030489": { "name": [ "abnormal paracentral response of multifocal electroretinogram", "abnormal paracentral response of multifocal electroretinogram" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072979" ], "is_a": [ "HP:0030468" ], "is_obsolete": "", "replace_id": "" }, "HP:0030490": { "name": [ "exudative vitreoretinopathy", "exudative vitreoretinopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072980" ], "is_a": [ "HP:0007773" ], "is_obsolete": "", "replace_id": "" }, "HP:0030491": { "name": [ "choriocapillaris atrophy", "choriocapillaris atrophy" ], "alt_id": [], "def": "Atrophy of the capillary lamina of choroid.", "synonym": [], "xref": [ "UMLS:C3275758" ], "is_a": [ "HP:0000533" ], "is_obsolete": "", "replace_id": "" }, "HP:0030493": { "name": [ "abnormality of foveal pigmentation", "abnormality of foveal pigmentation" ], "alt_id": [], "def": "An anomaly of the pigmentation in the fovea centralis.", "synonym": [], "xref": [ "UMLS:C4072981" ], "is_a": [ "HP:0000493", "HP:0008002" ], "is_obsolete": "", "replace_id": "" }, "HP:0030494": { "name": [ "macular microaneurysm / hemorrhage", "macular microaneurysm / hemorrhage" ], "alt_id": [], "def": "Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms).", "synonym": [], "xref": [ "UMLS:C4072982" ], "is_a": [ "HP:0030495", "HP:0032416" ], "is_obsolete": "", "replace_id": "" }, "HP:0030495": { "name": [ "abnormality morphology of the macular vasculature", "abnormality morphology of the macular vasculature" ], "alt_id": [], "def": "Any structural anomaly of the blood vessels of the macula.", "synonym": [ [ "abnormality of macular vasculature", "abnormality of macular vasculature" ] ], "xref": [ "UMLS:C4072983" ], "is_a": [ "HP:0001103" ], "is_obsolete": "", "replace_id": "" }, "HP:0030496": { "name": [ "macular exudate", "macular exudate" ], "alt_id": [], "def": "Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature.", "synonym": [ [ "macular exudates", "macular exudate" ], [ "macular exudation", "macular exudation" ] ], "xref": [ "UMLS:C4072984" ], "is_a": [ "HP:0030495" ], "is_obsolete": "", "replace_id": "" }, "HP:0030497": { "name": [ "macular cotton wool spot", "macular cotton wool spot" ], "alt_id": [], "def": "Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.", "synonym": [], "xref": [ "UMLS:C4072985" ], "is_a": [ "HP:0030500", "HP:0031606" ], "is_obsolete": "", "replace_id": "" }, "HP:0030498": { "name": [ "macular thickening", "macular thickening" ], "alt_id": [], "def": "Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging.", "synonym": [], "xref": [ "UMLS:C4072986" ], "is_a": [ "HP:0001103" ], "is_obsolete": "", "replace_id": "" }, "HP:0030499": { "name": [ "macular drusen", "macular drusen" ], "alt_id": [], "def": "Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula.", "synonym": [ [ "lipid accumulation in macula", "lipid accumulation in macula" ] ], "xref": [ "SNOMEDCT_US:247154004", "UMLS:C0677628" ], "is_a": [ "HP:0011510", "HP:0030500" ], "is_obsolete": "", "replace_id": "" }, "HP:0030500": { "name": [ "yellow / white lesions of the macula", "yellow / white lesion of the macula" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072987" ], "is_a": [ "HP:0001103", "HP:0030506" ], "is_obsolete": "", "replace_id": "" }, "HP:0030501": { "name": [ "macular crystals", "macular crystal" ], "alt_id": [], "def": "Crystalline deposits in the macula.", "synonym": [], "xref": [ "UMLS:C4072988" ], "is_a": [ "HP:0030500" ], "is_obsolete": "", "replace_id": "" }, "HP:0030502": { "name": [ "retinoschisis", "retinoschisis" ], "alt_id": [], "def": "Splitting of the neuroretinal layers of the retina.", "synonym": [], "xref": [ "MSH:D041441", "SNOMEDCT_US:44268007", "UMLS:C0152439" ], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0030503": { "name": [ "macular telangiectasia", "macular telangiectasia" ], "alt_id": [], "def": "", "synonym": [ [ "juxtafoveal telangiectasia", "juxtafoveal telangiectasia" ], [ "parafoveal telangiectasia", "parafoveal telangiectasia" ] ], "xref": [ "SNOMEDCT_US:232024000", "UMLS:C0339480" ], "is_a": [ "HP:0007763", "HP:0030495" ], "is_obsolete": "", "replace_id": "" }, "HP:0030504": { "name": [ "grouped congenital hypertrophy of retinal pigment epithelium", "group congenital hypertrophy of retinal pigment epithelium" ], "alt_id": [], "def": "", "synonym": [ [ "bear track congenital hypertrophy of retinal pigment epithelium", "bear track congenital hypertrophy of retinal pigment epithelium" ] ], "xref": [ "UMLS:C4072989" ], "is_a": [ "HP:0007649" ], "is_obsolete": "", "replace_id": "" }, "HP:0030505": { "name": [ "nummular pigmentation of the fundus", "nummular pigmentation of the fundus" ], "alt_id": [], "def": "Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium.", "synonym": [ [ "nummular pigmentation of the retina", "nummular pigmentation of the retina" ] ], "xref": [ "UMLS:C4072990" ], "is_a": [ "HP:0000580" ], "is_obsolete": "", "replace_id": "" }, "HP:0030506": { "name": [ "yellow / white lesions of the retina", "yellow / white lesion of the retina" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072991" ], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0030507": { "name": [ "retinal crystals", "retinal crystal" ], "alt_id": [], "def": "Crystalline deposits in the retina.", "synonym": [], "xref": [ "UMLS:C4072992" ], "is_a": [ "HP:0030506" ], "is_obsolete": "", "replace_id": "" }, "HP:0030508": { "name": [ "retinal cavernous hemangioma", "retinal cavernous hemangioma" ], "alt_id": [], "def": "", "synonym": [ [ "retinal cavernous haemangioma", "retinal cavernous haemangioma" ] ], "xref": [ "SNOMEDCT_US:312937006", "UMLS:C0730304" ], "is_a": [ "HP:0009594" ], "is_obsolete": "", "replace_id": "" }, "HP:0030509": { "name": [ "retinal racemose hemangioma", "retinal racemose hemangioma" ], "alt_id": [], "def": "", "synonym": [ [ "retinal racemose haemangioma", "retinal racemose haemangioma" ] ], "xref": [ "UMLS:C4072993" ], "is_a": [ "HP:0009594" ], "is_obsolete": "", "replace_id": "" }, "HP:0030510": { "name": [ "combined hamartoma of the retinal pigment epithelium and retina", "combine hamartoma of the retinal pigment epithelium and retina" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1862062" ], "is_a": [ "HP:0009594" ], "is_obsolete": "", "replace_id": "" }, "HP:0030511": { "name": [ "bradyopsia", "bradyopsia" ], "alt_id": [], "def": "Difficulty in seeing moving objects.", "synonym": [ [ "difficulty seeing moving objects", "difficulty see move object" ] ], "xref": [ "MSH:C564243", "SNOMEDCT_US:711163009", "UMLS:C1842073" ], "is_a": [ "HP:0000504" ], "is_obsolete": "", "replace_id": "" }, "HP:0030512": { "name": [ "difficulty adjusting to changes in luminance", "difficulty adjust to change in luminance" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072994" ], "is_a": [ "HP:0000504" ], "is_obsolete": "", "replace_id": "" }, "HP:0030513": { "name": [ "difficulty adjusting from light to dark", "difficulty adjust from light to dark" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072995" ], "is_a": [ "HP:0030512" ], "is_obsolete": "", "replace_id": "" }, "HP:0030514": { "name": [ "difficulty adjusting from dark to light", "difficulty adjust from dark to light" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072996" ], "is_a": [ "HP:0030512" ], "is_obsolete": "", "replace_id": "" }, "HP:0030515": { "name": [ "moderately reduced visual acuity", "moderately reduce visual acuity" ], "alt_id": [], "def": "Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation).", "synonym": [ [ "moderate reduction in visual acuity", "moderate reduction in visual acuity" ], [ "moderate vision loss", "moderate vision loss" ], [ "moderate visual impairment", "moderate visual impairment" ], [ "moderate visual loss", "moderate visual loss" ] ], "xref": [ "SNOMEDCT_US:397542006", "UMLS:C1301510" ], "is_a": [ "HP:0007663" ], "is_obsolete": "", "replace_id": "" }, "HP:0030516": { "name": [ "homonymous hemianopia", "homonymous hemianopia" ], "alt_id": [], "def": "", "synonym": [ [ "homonymous hemianopsia", "homonymous hemianopsia" ] ], "xref": [ "MSH:D006423", "SNOMEDCT_US:34063005", "UMLS:C0271202" ], "is_a": [ "HP:0012377" ], "is_obsolete": "", "replace_id": "" }, "HP:0030517": { "name": [ "heteronymous hemianopia", "heteronymous hemianopia" ], "alt_id": [], "def": "", "synonym": [ [ "heteronymous hemianopsia", "heteronymous hemianopsia" ] ], "xref": [ "SNOMEDCT_US:344104004", "SNOMEDCT_US:345121001", "UMLS:C0271207" ], "is_a": [ "HP:0012377" ], "is_obsolete": "", "replace_id": "" }, "HP:0030518": { "name": [ "congruous homonymous hemianopia", "congruous homonymous hemianopia" ], "alt_id": [], "def": "", "synonym": [ [ "congruous hemianopsia", "congruous hemianopsia" ] ], "xref": [ "UMLS:C4072997" ], "is_a": [ "HP:0030516" ], "is_obsolete": "", "replace_id": "" }, "HP:0030519": { "name": [ "congruous heteronymous hemianopia", "congruous heteronymous hemianopia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4072998" ], "is_a": [ "HP:0030517" ], "is_obsolete": "", "replace_id": "" }, "HP:0030520": { "name": [ "binasal hemianopia", "binasal hemianopia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D006423", "SNOMEDCT_US:87278000", "UMLS:C0271208" ], "is_a": [ "HP:0030517" ], "is_obsolete": "", "replace_id": "" }, "HP:0030521": { "name": [ "bitemporal hemianopia", "bitemporal hemianopia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D006423", "SNOMEDCT_US:61917005", "UMLS:C0221184" ], "is_a": [ "HP:0030517" ], "is_obsolete": "", "replace_id": "" }, "HP:0030522": { "name": [ "mild constriction of peripheral visual field", "mild constriction of peripheral visual field" ], "alt_id": [], "def": "A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians.", "synonym": [ [ "mild peripheral visual field loss", "mild peripheral visual field loss" ] ], "xref": [ "UMLS:C4072999" ], "is_a": [ "HP:0001133" ], "is_obsolete": "", "replace_id": "" }, "HP:0030523": { "name": [ "obsolete peripheral visual field constriction with 40 - 50 degrees central field preserved", "obsolete peripheral visual field constriction with 40 - 50 degree central field preserve" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0030525" }, "HP:0030524": { "name": [ "obsolete peripheral visual field constriction with 30 - 39 degrees central field preserved", "obsolete peripheral visual field constriction with 30 - 39 degree central field preserve" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0030525" }, "HP:0030525": { "name": [ "moderate constriction of peripheral visual field", "moderate constriction of peripheral visual field" ], "alt_id": [ "HP:0030523", "HP:0030524" ], "def": "Peripheral visual field constriction with 20-49 degrees binocular visual field preserved.", "synonym": [ [ "moderate peripheral visual field loss", "moderate peripheral visual field loss" ] ], "xref": [ "UMLS:C4073002" ], "is_a": [ "HP:0001133" ], "is_obsolete": "", "replace_id": "" }, "HP:0030526": { "name": [ "severe constriction of peripheral visual field", "severe constriction of peripheral visual field" ], "alt_id": [], "def": "Peripheral visual field constriction with 10-19 degrees central field preserved.", "synonym": [ [ "severe peripheral visual field loss", "severe peripheral visual field loss" ] ], "xref": [ "UMLS:C4073003" ], "is_a": [ "HP:0001133" ], "is_obsolete": "", "replace_id": "" }, "HP:0030527": { "name": [ "very severe constriction of peripheral visual field", "very severe constriction of peripheral visual field" ], "alt_id": [], "def": "Peripheral visual field constriction with <10 degrees central field preserved.", "synonym": [ [ "very severe peripheral visual field loss", "very severe peripheral visual field loss" ] ], "xref": [ "UMLS:C4073004" ], "is_a": [ "HP:0001133" ], "is_obsolete": "", "replace_id": "" }, "HP:0030528": { "name": [ "paracentral scotoma", "paracentral scotoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D012607", "SNOMEDCT_US:64418005", "UMLS:C0271197" ], "is_a": [ "HP:0000575" ], "is_obsolete": "", "replace_id": "" }, "HP:0030529": { "name": [ "ring scotoma", "ring scotoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D012607", "SNOMEDCT_US:129625005", "UMLS:C0438434" ], "is_a": [ "HP:0000575" ], "is_obsolete": "", "replace_id": "" }, "HP:0030530": { "name": [ "arcuate scotoma", "arcuate scotoma" ], "alt_id": [], "def": "", "synonym": [ [ "arc - shaped blind spot", "arc - shape blind spot" ] ], "xref": [ "MSH:D012607", "SNOMEDCT_US:15462009", "UMLS:C0271198", "UMLS:C4280302" ], "is_a": [ "HP:0000575" ], "is_obsolete": "", "replace_id": "" }, "HP:0030531": { "name": [ "altitudinal visual field defect", "altitudinal visual field defect" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073005" ], "is_a": [ "HP:0001123" ], "is_obsolete": "", "replace_id": "" }, "HP:0030532": { "name": [ "visual acuity test abnormality", "visual acuity test abnormality" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073006" ], "is_a": [ "HP:0007663" ], "is_obsolete": "", "replace_id": "" }, "HP:0030533": { "name": [ "abnormal unaided visual acuity test", "abnormal unaided visual acuity test" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073007" ], "is_a": [ "HP:0030532" ], "is_obsolete": "", "replace_id": "" }, "HP:0030534": { "name": [ "abnormal best corrected visual acuity test", "abnormal best correct visual acuity test" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073008" ], "is_a": [ "HP:0030532" ], "is_obsolete": "", "replace_id": "" }, "HP:0030535": { "name": [ "abnormal pinhole visual acuity test", "abnormal pinhole visual acuity test" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073009" ], "is_a": [ "HP:0030532" ], "is_obsolete": "", "replace_id": "" }, "HP:0030536": { "name": [ "unaided visual acuity 0.1 logmar", "unaided visual acuity 0.1 logmar" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073010" ], "is_a": [ "HP:0030533" ], "is_obsolete": "", "replace_id": "" }, "HP:0030537": { "name": [ "unaided visual acuity 0.2 logmar", "unaided visual acuity 0.2 logmar" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073011" ], "is_a": [ "HP:0030533" ], "is_obsolete": "", "replace_id": "" }, "HP:0030538": { "name": [ "unaided visual acuity 0.3 logmar", "unaided visual acuity 0.3 logmar" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073012" ], "is_a": [ "HP:0030533" ], "is_obsolete": "", "replace_id": "" }, "HP:0030539": { "name": [ "unaided visual acuity 0.4 logmar", "unaided visual acuity 0.4 logmar" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073013" ], "is_a": [ "HP:0030533" ], "is_obsolete": "", "replace_id": "" }, "HP:0030540": { "name": [ "unaided visual acuity 0.5 logmar", "unaided visual acuity 0.5 logmar" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073014" ], "is_a": [ "HP:0030533" ], "is_obsolete": "", "replace_id": "" }, "HP:0030541": { "name": [ "unaided visual acuity 0.6 logmar", "unaided visual acuity 0.6 logmar" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073015" ], 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It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation.", "synonym": [], "xref": [ "UMLS:C4073074" ], "is_a": [ "HP:0030601" ], "is_obsolete": "", "replace_id": "" }, "HP:0030605": { "name": [ "abnormal indocyanine green angiography", "abnormal indocyanine green angiography" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073075" ], "is_a": [ "HP:0030601" ], "is_obsolete": "", "replace_id": "" }, "HP:0030606": { "name": [ "abnormal oct - measured macular thickness", "abnormal oct - measure macular thickness" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073076" ], "is_a": [ "HP:0030612" ], "is_obsolete": "", "replace_id": "" }, "HP:0030607": { "name": [ "reduced oct - measured macular thickness", "reduce oct - measure macular thickness" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073077" ], "is_a": [ "HP:0030606" ], "is_obsolete": "", "replace_id": "" }, "HP:0030608": { "name": [ "increased oct - measured macular thickness", "increase oct - measure macular thickness" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073078" ], "is_a": [ "HP:0030606" ], "is_obsolete": "", "replace_id": "" }, "HP:0030609": { "name": [ "photoreceptor layer loss on macular oct", "photoreceptor layer loss on macular oct" ], "alt_id": [], "def": "Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.", "synonym": [], "xref": [ "UMLS:C4073079" ], "is_a": [ "HP:0030612" ], "is_obsolete": "", "replace_id": "" }, "HP:0030610": { "name": [ "photoreceptor outer segment loss on macular oct", "photoreceptor outer segment loss on macular oct" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073080" ], "is_a": [ "HP:0030612" ], "is_obsolete": "", "replace_id": "" }, "HP:0030611": { "name": [ "retinal pigment epithelial loss on macular oct", "retinal pigment epithelial loss on macular oct" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073081" ], "is_a": [ "HP:0030612" ], "is_obsolete": "", "replace_id": "" }, "HP:0030612": { "name": [ "abnormal retinal morphology on macular oct", "abnormal retinal morphology on macular oct" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073082" ], "is_a": [ "HP:0030603" ], "is_obsolete": "", "replace_id": "" }, "HP:0030613": { "name": [ "abnormal foveal morphology on macular oct", "abnormal foveal morphology on macular oct" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073083" ], "is_a": [ "HP:0030612" ], "is_obsolete": "", "replace_id": "" }, "HP:0030614": { "name": [ "foveal photoreceptor layer loss on macular oct", "foveal photoreceptor layer loss on macular oct" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073084" ], "is_a": [ "HP:0030613" ], "is_obsolete": "", "replace_id": "" }, "HP:0030615": { "name": [ "foveal photoreceptor outer segment loss on macular oct", "foveal photoreceptor outer segment loss on macular oct" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073085" ], "is_a": [ "HP:0030613" ], "is_obsolete": "", "replace_id": "" }, "HP:0030616": { "name": [ "foveal retinal pigment epithelial loss on macular oct", "foveal retinal pigment epithelial loss on macular oct" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073086" ], "is_a": [ "HP:0030613" ], "is_obsolete": "", "replace_id": "" }, "HP:0030617": { "name": [ "abnormal oct - measured foveal thickness", "abnormal oct - measure foveal thickness" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073087" ], "is_a": [ "HP:0030613" ], "is_obsolete": "", "replace_id": "" }, "HP:0030618": { "name": [ "increased oct - measured foveal thickness", "increase oct - measure foveal thickness" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073088" ], "is_a": [ "HP:0030617" ], "is_obsolete": "", "replace_id": "" }, "HP:0030619": { "name": [ "reduced oct - measured foveal thickness", "reduce oct - measure foveal thickness" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073089" ], "is_a": [ "HP:0030617" ], "is_obsolete": "", "replace_id": "" }, "HP:0030620": { "name": [ "inner retinal layer loss on macular oct", "inner retinal layer loss on macular oct" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073090" ], "is_a": [ "HP:0030612" ], "is_obsolete": "", "replace_id": "" }, "HP:0030621": { "name": [ "foveal inner retinal layer loss on macular oct", "foveal inner retinal layer loss on macular oct" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073091" ], "is_a": [ "HP:0030613" ], "is_obsolete": "", "replace_id": "" }, "HP:0030622": { "name": [ "abnormal foveal pit on macular oct", "abnormal foveal pit on macular oct" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073092" ], "is_a": [ "HP:0030613" ], "is_obsolete": "", "replace_id": "" }, "HP:0030623": { "name": [ "intraretinal hyporeflective spaces on macular oct", "intraretinal hyporeflective space on macular oct" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073093" ], "is_a": [ "HP:0030625" ], "is_obsolete": "", "replace_id": "" }, "HP:0030624": { "name": [ "subretinal hyporeflective spaces on macular oct", "subretinal hyporeflective space on macular oct" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073094" ], "is_a": [ "HP:0030625" ], "is_obsolete": "", "replace_id": "" }, "HP:0030625": { "name": [ "hyporeflective spaces on macular oct", "hyporeflective space on macular oct" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073095" ], "is_a": [ "HP:0030612" ], "is_obsolete": "", "replace_id": "" }, "HP:0030626": { "name": [ "foveal intraretinal hyporeflective spaces on macular oct", "foveal intraretinal hyporeflective space on macular oct" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073096" ], "is_a": [ "HP:0030627" ], "is_obsolete": "", "replace_id": "" }, "HP:0030627": { "name": [ "foveal hyporeflective spaces on macular oct", "foveal hyporeflective space on macular oct" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073097" ], "is_a": [ "HP:0030613" ], "is_obsolete": "", "replace_id": "" }, "HP:0030628": { "name": [ "foveal subretinal hyporeflective spaces on macular oct", "foveal subretinal hyporeflective space on macular oct" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073098" ], "is_a": [ "HP:0030627" ], "is_obsolete": "", "replace_id": "" }, "HP:0030629": { "name": [ "perifoveal ring of hyperautofluorescence", "perifoveal ring of hyperautofluorescence" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073099" ], "is_a": [ "HP:0030602" ], "is_obsolete": "", "replace_id": "" }, "HP:0030630": { "name": [ "irregular central macular autofluorescence", "irregular central macular autofluorescence" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073100" ], "is_a": [ "HP:0030602" ], "is_obsolete": "", "replace_id": "" }, "HP:0030631": { "name": [ "hyperautofluorescent macular lesion", "hyperautofluorescent macular lesion" ], "alt_id": [], "def": "Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.", "synonym": [], "xref": [ "UMLS:C4073101" ], "is_a": [ "HP:0025158" ], "is_obsolete": "", "replace_id": "" }, "HP:0030632": { "name": [ "hypoautofluorescent macular lesion", "hypoautofluorescent macular lesion" ], "alt_id": [], "def": "Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.", "synonym": [ [ "hypo - autofluorescent macular lesion", "hypo - autofluorescent macular lesion" ] ], "xref": [ "UMLS:C4073102" ], "is_a": [ "HP:0025159" ], "is_obsolete": "", "replace_id": "" }, "HP:0030633": { "name": [ "perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence", "perifoveal ring of hyperautofluorescence surround by normal autofluorescence" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073103" ], "is_a": [ "HP:0030629" ], "is_obsolete": "", "replace_id": "" }, "HP:0030634": { "name": [ "perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence", "perifoveal ring of hyperautofluorescence surround by abnormal autofluorescence" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073104" ], "is_a": [ "HP:0030629" ], "is_obsolete": "", "replace_id": "" }, "HP:0030635": { "name": [ "retinal dystrophy with early macular involvement", "retinal dystrophy with early macular involvement" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4049066" ], "is_a": [ "HP:0000556" ], "is_obsolete": "", "replace_id": "" }, "HP:0030636": { "name": [ "occult macular dystrophy", "occult macular dystrophy" ], "alt_id": [], "def": "Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities.", "synonym": [], "xref": [], "is_a": [ "HP:0007754" ], "is_obsolete": "", "replace_id": "" }, "HP:0030637": { "name": [ "congenital stationary cone dysfunction", "congenital stationary cone dysfunction" ], "alt_id": [], "def": "Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia.", "synonym": [ [ "cone dysfunction", "cone dysfunction" ], [ "cone dysfunction syndrome", "cone dysfunction syndrome" ] ], "xref": [ "UMLS:C0543968" ], "is_a": [ "HP:0012373" ], "is_obsolete": "", "replace_id": "" }, "HP:0030638": { "name": [ "congenital stationary night blindness with normal fundus", "congenital stationary night blindness with normal fundus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073105" ], "is_a": [ "HP:0007642" ], "is_obsolete": "", "replace_id": "" }, "HP:0030639": { "name": [ "congenital stationary night blindness with abnormal fundus", "congenital stationary night blindness with abnormal fundus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073106" ], "is_a": [ "HP:0007642" ], "is_obsolete": "", "replace_id": "" }, "HP:0030640": { "name": [ "complete congenital stationary night blindness", "complete congenital stationary night blindness" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4048798" ], "is_a": [ "HP:0030638" ], "is_obsolete": "", "replace_id": "" }, "HP:0030641": { "name": [ "incomplete congenital stationary night blindness", "incomplete congenital stationary night blindness" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073107" ], "is_a": [ "HP:0030638" ], "is_obsolete": "", "replace_id": "" }, "HP:0030642": { "name": [ "fundus albipunctatus", "fundus albipunctatus" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C562733", "SNOMEDCT_US:68222009", "UMLS:C0311338" ], "is_a": [ "HP:0012045", "HP:0030639" ], "is_obsolete": "", "replace_id": "" }, "HP:0030643": { "name": [ "vitelliform - like retinal lesions", "vitelliform - like retinal lesion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073108" ], "is_a": [ "HP:0030506" ], "is_obsolete": "", "replace_id": "" }, "HP:0030644": { "name": [ "blind - spot enlargment", "blind - spot enlargment" ], "alt_id": [], "def": "", "synonym": [ [ "blind spot enlargment", "blind spot enlargment" ] ], "xref": [ "UMLS:C4073109" ], "is_a": [ "HP:0001123" ], "is_obsolete": "", "replace_id": "" }, "HP:0030645": { "name": [ "central", "central" ], "alt_id": [], "def": "Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure.", "synonym": [], "xref": [ "SNOMEDCT_US:26216008", "UMLS:C0205099" ], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0030646": { "name": [ "peripheral", "peripheral" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:14414005", "UMLS:C0205100" ], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0030647": { "name": [ "paracentral", "paracentral" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073110" ], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0030648": { "name": [ "midperipheral", "midperipheral" ], "alt_id": [], "def": "", "synonym": [ [ "mid - peripheral", "mid - peripheral" ] ], "xref": [ "UMLS:C4073111" ], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0030649": { "name": [ "pericentral", "pericentral" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073112" ], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0030650": { "name": [ "focal", "focal" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:87017008", "UMLS:C0205234" ], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0030651": { "name": [ "multifocal", "multifocal" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:524008", "UMLS:C0205292" ], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0030652": { "name": [ "vitreous haze", "vitreous haze" ], "alt_id": [], "def": "Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation.", "synonym": [], "xref": [ "UMLS:C4073113" ], "is_a": [ "HP:0011531" ], "is_obsolete": "", "replace_id": "" }, "HP:0030654": { "name": [ "umbilical cord cyst", "umbilical cord cyst" ], "alt_id": [], "def": "Any cystic lesion associated with the umbilical cord.", "synonym": [], "xref": [ "UMLS:C4073114" ], "is_a": [ "HP:0010881" ], "is_obsolete": "", "replace_id": "" }, "HP:0030655": { "name": [ "umbilical cord knot", "umbilical cord knot" ], "alt_id": [], "def": "An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord.", "synonym": [], "xref": [ "SNOMEDCT_US:237309005", "UMLS:C0344363" ], "is_a": [ "HP:0010881" ], "is_obsolete": "", "replace_id": "" }, "HP:0030656": { "name": [ "umbilical vein varix", "umbilical vein varix" ], "alt_id": [], "def": "Focal dilation of the umbilical vein.", "synonym": [], "xref": [ "UMLS:C4073115" ], "is_a": [ "HP:0010881" ], "is_obsolete": "", "replace_id": "" }, "HP:0030657": { "name": [ "umbilical cord hematoma", "umbilical cord hematoma" ], "alt_id": [], "def": "Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels.", "synonym": [ [ "umbilical cord haematoma", "umbilical cord haematoma" ] ], "xref": [ "SNOMEDCT_US:86256001", "UMLS:C0269855" ], "is_a": [ "HP:0010881" ], "is_obsolete": "", "replace_id": "" }, "HP:0030658": { "name": [ "marginal umbilical cord insertion", "marginal umbilical cord insertion" ], "alt_id": [], "def": "Insertion of the umbilical cord within 2 cm from the placental edge.", "synonym": [ [ "marginal cord insertion", "marginal cord insertion" ] ], "xref": [ "SNOMEDCT_US:51519001", "UMLS:C0266788" ], "is_a": [ "HP:0011418" ], "is_obsolete": "", "replace_id": "" }, "HP:0030659": { "name": [ "velamentous cord insertion", "velamentous cord insertion" ], "alt_id": [], "def": "Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta.", "synonym": [], "xref": [ "SNOMEDCT_US:77278008", "UMLS:C0266789" ], "is_a": [ "HP:0011418" ], "is_obsolete": "", "replace_id": "" }, "HP:0030660": { "name": [ "furcate cord insertion", "furcate cord insertion" ], "alt_id": [], "def": "Branching of the umbilical cord before its insertion into the placenta.", "synonym": [], "xref": [ "UMLS:C4073116" ], "is_a": [ "HP:0011418" ], "is_obsolete": "", "replace_id": "" }, "HP:0030661": { "name": [ "vitreous snowballs", "vitreous snowball" ], "alt_id": [], "def": "Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery.", "synonym": [], "xref": [ "SNOMEDCT_US:417393008", "UMLS:C1563272" ], "is_a": [ "HP:0011531" ], "is_obsolete": "", "replace_id": "" }, "HP:0030662": { "name": [ "vitreous inflammatory cells", "vitreous inflammatory cell" ], "alt_id": [], "def": "The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous.", "synonym": [], "xref": [ "UMLS:C4073117" ], "is_a": [ "HP:0011531" ], "is_obsolete": "", "replace_id": "" }, "HP:0030663": { "name": [ "optically empty vitreous", "optically empty vitreous" ], "alt_id": [], "def": "Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.", "synonym": [], "xref": [ "UMLS:C4073118" ], "is_a": [ "HP:0004327" ], "is_obsolete": "", "replace_id": "" }, "HP:0030664": { "name": [ "beevor 's sign", "beevor 's sign" ], "alt_id": [], "def": "Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus.", "synonym": [], "xref": [ "SNOMEDCT_US:61282003", "UMLS:C0231616" ], "is_a": [ "HP:0009023" ], "is_obsolete": "", "replace_id": "" }, "HP:0030665": { "name": [ "rubral tremor", "rubral tremor" ], "alt_id": [], "def": "Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.", "synonym": [ [ "holmes ' tremor", "holmes ' tremor" ] ], "xref": [ "MSH:D001259", "UMLS:C0750940" ], "is_a": [ "HP:0001337" ], "is_obsolete": "", "replace_id": "" }, "HP:0030666": { "name": [ "retinal neovascularization", "retinal neovascularization" ], "alt_id": [], "def": "In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.", "synonym": [ [ "retinal neovascularisation", "retinal neovascularisation" ] ], "xref": [ "MSH:D015861", "SNOMEDCT_US:61267008", "UMLS:C0035320" ], "is_a": [ "HP:0008046" ], "is_obsolete": "", "replace_id": "" }, "HP:0030667": { "name": [ "peripheral retinal neovascularization", "peripheral retinal neovascularization" ], "alt_id": [], "def": "A type of retinal neovascularization that affects the periphery of the retina.", "synonym": [], "xref": [ "SNOMEDCT_US:247100001", "UMLS:C0474355" ], "is_a": [ "HP:0030666" ], "is_obsolete": "", "replace_id": "" }, "HP:0030668": { "name": [ "periorbital dermoid cyst", "periorbital dermoid cyst" ], "alt_id": [], "def": "A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts.", "synonym": [], "xref": [ "UMLS:C4073119" ], "is_a": [ "HP:0001144" ], "is_obsolete": "", "replace_id": "" }, "HP:0030669": { "name": [ "abnormal ocular adnexa morphology", "abnormal ocular adnexa morphology" ], "alt_id": [], "def": "A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.", "synonym": [], "xref": [ "UMLS:C4073120" ], "is_a": [ "HP:0032039" ], "is_obsolete": "", "replace_id": "" }, "HP:0030670": { "name": [ "hamartoma of the orbital region", "hamartoma of the orbital region" ], "alt_id": [], "def": "A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region.", "synonym": [], "xref": [ "UMLS:C4073121" ], "is_a": [ "HP:0000315", "HP:0010566" ], "is_obsolete": "", "replace_id": "" }, "HP:0030671": { "name": [ "abnormal common tendinous ring morphology", "abnormal common tendinous ring morphology" ], "alt_id": [], "def": "Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles.", "synonym": [ [ "abnormality of the common tendinous ring", "abnormality of the common tendinous ring" ] ], "xref": [ "UMLS:C4073122" ], "is_a": [ "HP:0030669" ], "is_obsolete": "", "replace_id": "" }, "HP:0030672": { "name": [ "asteroid hyalosis", "asteroid hyalosis" ], "alt_id": [], "def": "The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.", "synonym": [], "xref": [ "SNOMEDCT_US:95800001", "UMLS:C0521770" ], "is_a": [ "HP:0004327" ], "is_obsolete": "", "replace_id": "" }, "HP:0030673": { "name": [ "erosive vitreoretinopathy", "erosive vitreoretinopathy" ], "alt_id": [], "def": "A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels.", "synonym": [], "xref": [ "MSH:C536075", "SNOMEDCT_US:232064001", "UMLS:C1840452" ], "is_a": [ "HP:0007773" ], "is_obsolete": "", "replace_id": "" }, "HP:0030674": { "name": [ "antenatal onset", "antenatal onset" ], "alt_id": [], "def": "Onset prior to birth.", "synonym": [], "xref": [ "UMLS:C2673646" ], "is_a": [ "HP:0003674" ], "is_obsolete": "", "replace_id": "" }, "HP:0030675": { "name": [ "contracture of proximal interphalangeal joints of 2nd - 5th fingers", "contracture of proximal interphalangeal joint of 2nd - 5th finger" ], "alt_id": [], "def": "Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue.", "synonym": [], "xref": [ "UMLS:C4073123" ], "is_a": [ "HP:0001215" ], "is_obsolete": "", "replace_id": "" }, "HP:0030676": { "name": [ "satyr ear", "satyr ear" ], "alt_id": [], "def": "Sharp pointed superior portion of the ear, with variable overfolding of the helix.", "synonym": [ [ "devil ear", "devil ear" ] ], "xref": [ "UMLS:C4048833" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0030677": { "name": [ "mozart ear", "mozart ear" ], "alt_id": [], "def": "A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus.", "synonym": [], "xref": [ "UMLS:C4073124" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0030679": { "name": [ "ash - leaf spot", "ash - leaf spot" ], "alt_id": [], "def": "A hypopigmented spot in the shape of a leaf from the mountain ash tree.", "synonym": [], "xref": [ "UMLS:C4073125" ], "is_a": [ "HP:0009719" ], "is_obsolete": "", "replace_id": "" }, "HP:0030680": { "name": [ "abnormality of cardiovascular system morphology", "abnormality of cardiovascular system morphology" ], "alt_id": [ "HP:0001632", "HP:0002564", "HP:0002565" ], "def": "Any structural anomaly of the heart and great vessels.", "synonym": [ [ "cardiovascular malformations", "cardiovascular malformation" ] ], "xref": [ "UMLS:C4049796" ], "is_a": [ "HP:0001626" ], "is_obsolete": "", "replace_id": "" }, "HP:0030681": { "name": [ "abnormal morphology of myocardial trabeculae", "abnormal morphology of myocardial trabecula" ], "alt_id": [], "def": "Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).", "synonym": [], "xref": [ "UMLS:C4073289" ], "is_a": [ "HP:0001637" ], "is_obsolete": "", "replace_id": "" }, "HP:0030682": { "name": [ "left ventricular noncompaction", "leave ventricular noncompaction" ], "alt_id": [], "def": "Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer.", "synonym": [], "xref": [ "UMLS:C1960469" ], "is_a": [ "HP:0031192" ], "is_obsolete": "", "replace_id": "" }, "HP:0030683": { "name": [ "vaginitis", "vaginitis" ], "alt_id": [], "def": "Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge.", "synonym": [ [ "vulvovaginitis", "vulvovaginitis" ] ], "xref": [ "MSH:D014627", "SNOMEDCT_US:30800001", "UMLS:C0042267" ], "is_a": [ "HP:0000142", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0030684": { "name": [ "abnormal adiponectin level", "abnormal adiponectin level" ], "alt_id": [], "def": "A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.", "synonym": [], "xref": [ "UMLS:C4073126" ], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0030685": { "name": [ "decreased adiponectin level", "decrease adiponectin level" ], "alt_id": [], "def": "A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.", "synonym": [], "xref": [ "UMLS:C4073127" ], "is_a": [ "HP:0030684" ], "is_obsolete": "", "replace_id": "" }, "HP:0030686": { "name": [ "increased adiponectin level", "increase adiponectin level" ], "alt_id": [], "def": "An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.", "synonym": [], "xref": [ "UMLS:C4073128" ], "is_a": [ "HP:0030684" ], "is_obsolete": "", "replace_id": "" }, "HP:0030687": { "name": [ "abnormal glucagon level", "abnormal glucagon level" ], "alt_id": [], "def": "A deviation from the normal concentration of glucagon in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4073129" ], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0030688": { "name": [ "increased glucagon level", "increase glucagon level" ], "alt_id": [], "def": "An elevated concentration of glucagon in the blood circulation.", "synonym": [], "xref": [ "SNOMEDCT_US:131106002", "UMLS:C1295677" ], "is_a": [ "HP:0030687" ], "is_obsolete": "", "replace_id": "" }, "HP:0030689": { "name": [ "decreased glucagon level", "decrease glucagon level" ], "alt_id": [], "def": "A reduced concentration of glucagon in the blood circulation.", "synonym": [], "xref": [ "SNOMEDCT_US:131107006", "UMLS:C1295678" ], "is_a": [ "HP:0030687" ], "is_obsolete": "", "replace_id": "" }, "HP:0030690": { "name": [ "gingival cleft", "gingival cleft" ], "alt_id": [], "def": "A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.", "synonym": [], "xref": [ "SNOMEDCT_US:109622003", "UMLS:C0426489" ], "is_a": [ "HP:0000168" ], "is_obsolete": "", "replace_id": "" }, "HP:0030691": { "name": [ "divergence nystagmus", "divergence nystagmus" ], "alt_id": [], "def": "A condition in which both eyes beat outward simultaneously.", "synonym": [], "xref": [ "UMLS:C4073130" ], "is_a": [ "HP:0000639" ], "is_obsolete": "", "replace_id": "" }, "HP:0030692": { "name": [ "brain neoplasm", "brain neoplasm" ], "alt_id": [], "def": "A benign or malignant neoplasm that arises from or metastasizes to the brain.", "synonym": [ [ "brain tumor", "brain tumor" ], [ "brain tumour", "brain tumour" ] ], "xref": [ "MSH:D001932", "NCIT:C2907", "SNOMEDCT_US:126952004", "SNOMEDCT_US:254935002", "UMLS:C0006118" ], "is_a": [ "HP:0100006" ], "is_obsolete": "", "replace_id": "" }, "HP:0030693": { "name": [ "supratentorial neoplasm", "supratentorial neoplasm" ], "alt_id": [], "def": "A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli.", "synonym": [ [ "pineal parenchymal tumor", "pineal parenchymal tumor" ], [ "pineal parenchymal tumour", "pineal parenchymal tumour" ] ], "xref": [ "MSH:D010871", "MSH:D015173", "NCIT:C3328", "SNOMEDCT_US:127026004", "SNOMEDCT_US:359619007", "SNOMEDCT_US:47598005", "UMLS:C0031941", "UMLS:C0038874" ], "is_a": [ "HP:0030692" ], "is_obsolete": "", "replace_id": "" }, "HP:0030694": { "name": [ "pineal parenchymal cell neoplasm", "pineal parenchymal cell neoplasm" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D010871", "SNOMEDCT_US:127026004", "SNOMEDCT_US:359619007", "SNOMEDCT_US:47598005", "UMLS:C0031941" ], "is_a": [ "HP:0010799" ], "is_obsolete": "", "replace_id": "" }, "HP:0030706": { "name": [ "ranula", "ranula" ], "alt_id": [], "def": "A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location.", "synonym": [ [ "sublingual cyst", "sublingual cyst" ], [ "sublingual ptyalocele", "sublingual ptyalocele" ] ], "xref": [ "MSH:D011900", "SNOMEDCT_US:14919007", "UMLS:C2242813" ], "is_a": [ "HP:0010286" ], "is_obsolete": "", "replace_id": "" }, "HP:0030707": { "name": [ "unilateral lung agenesis", "unilateral lung agenesis" ], "alt_id": [], "def": "Lack of development of one lung.", "synonym": [ [ "unilateral pulmonary agenesis", "unilateral pulmonary agenesis" ] ], "xref": [ "MSH:C562992", "UMLS:C4082952" ], "is_a": [ "HP:0006703" ], "is_obsolete": "", "replace_id": "" }, "HP:0030708": { "name": [ "myeloschisis", "myeloschisis" ], "alt_id": [], "def": "The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.", "synonym": [], "xref": [ "SNOMEDCT_US:360530005", "UMLS:C0266507" ], "is_a": [ "HP:0002475" ], "is_obsolete": "", "replace_id": "" }, "HP:0030709": { "name": [ "myelocystocele", "myelocystocele" ], "alt_id": [], "def": "Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.", "synonym": [], "xref": [ "MSH:D008591", "SNOMEDCT_US:203994003", "SNOMEDCT_US:414667000", "UMLS:C0025312" ], "is_a": [ "HP:0002196" ], "is_obsolete": "", "replace_id": "" }, "HP:0030710": { "name": [ "lipomeningocele", "lipomeningocele" ], "alt_id": [], "def": "A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life.", "synonym": [], "xref": [ "SNOMEDCT_US:253120005", "UMLS:C0431344" ], "is_a": [ "HP:0002435" ], "is_obsolete": "", "replace_id": "" }, "HP:0030711": { "name": [ "hydrocolpos", "hydrocolpos" ], "alt_id": [], "def": "Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.", "synonym": [], "xref": [ "MSH:D052202", "UMLS:C1399870" ], "is_a": [ "HP:0000142" ], "is_obsolete": "", "replace_id": "" }, "HP:0030712": { "name": [ "uterine synechiae", "uterine synechiae" ], "alt_id": [], "def": "Adhesions or scar tissue that form inside the cavity of the uterus.", "synonym": [ [ "asherman syndrome", "asherman syndrome" ] ], "xref": [ "MSH:D006175", "SNOMEDCT_US:48236007", "UMLS:C0156372" ], "is_a": [ "HP:0031105" ], "is_obsolete": "", "replace_id": "" }, "HP:0030713": { "name": [ "vein of galen aneurysmal malformation", "vein of galen aneurysmal malformation" ], "alt_id": [], "def": "Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation.", "synonym": [ [ "median prosencephalic arteriovenous fistula", "median prosencephalic arteriovenous fistula" ], [ "vein of galen aneurysm", "vein of galen aneurysm" ], [ "vein of galen malformation", "vein of galen malformation" ] ], "xref": [ "MSH:C536535", "SNOMEDCT_US:253194008", "UMLS:C0431420" ], "is_a": [ "HP:0012480" ], "is_obsolete": "", "replace_id": "" }, "HP:0030714": { "name": [ "subchorionic thrombohematoma", "subchorionic thrombohematoma" ], "alt_id": [], "def": "A large maternal clot that separates the chorionic plate from the villous chorion.", "synonym": [ [ "breus ' mole", "breus ' mole" ] ], "xref": [ "UMLS:C1390676" ], "is_a": [ "HP:0100767" ], "is_obsolete": "", "replace_id": "" }, "HP:0030715": { "name": [ "bronchial atresia", "bronchial atresia" ], "alt_id": [], "def": "A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.", "synonym": [ [ "congenital bronchial atresia", "congenital bronchial atresia" ] ], "xref": [ "SNOMEDCT_US:50513008", "UMLS:C0265776" ], "is_a": [ "HP:0025426" ], "is_obsolete": "", "replace_id": "" }, "HP:0030716": { "name": [ "acrania", "acrania" ], "alt_id": [], "def": "Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly.", "synonym": [], "xref": [ "MSH:D009436", "SNOMEDCT_US:203923004", "UMLS:C0702169" ], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0030717": { "name": [ "meconium peritonitis", "meconium peritonitis" ], "alt_id": [], "def": "Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications.", "synonym": [], "xref": [ "SNOMEDCT_US:57341009", "UMLS:C0270250" ], "is_a": [ "HP:0002586" ], "is_obsolete": "", "replace_id": "" }, "HP:0030718": { "name": [ "right atrial enlargement", "right atrial enlargement" ], "alt_id": [], "def": "Increase in size of the right atrium.", "synonym": [ [ "dilated right atrium", "dilate right atrium" ], [ "enlarged heart right atrium", "enlarge heart right atrium" ], [ "right atrial dilatation", "right atrial dilatation" ] ], "xref": [ "Fyler:1771", "Fyler:2859", "SNOMEDCT_US:67751000119106", "UMLS:C0748427" ], "is_a": [ "HP:0025580" ], "is_obsolete": "", "replace_id": "" }, "HP:0030719": { "name": [ "unguarded tricuspid valve", "unguarded tricuspid valve" ], "alt_id": [], "def": "A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue.", "synonym": [ [ "rudimentary tricuspid valve leaflets", "rudimentary tricuspid valve leaflet" ], [ "unguarded tricuspid valve orifice", "unguarded tricuspid valve orifice" ] ], "xref": [ "SNOMEDCT_US:253381001", "UMLS:C0344745" ], "is_a": [ "HP:0011662" ], "is_obsolete": "", "replace_id": "" }, "HP:0030720": { "name": [ "subchorionic septal cyst", "subchorionic septal cyst" ], "alt_id": [], "def": "Cyst on the surface of the placenta consisting of amnion and chorion.", "synonym": [], "xref": [ "UMLS:C4280801" ], "is_a": [ "HP:0100767" ], "is_obsolete": "", "replace_id": "" }, "HP:0030721": { "name": [ "tetraphocomelia", "tetraphocomelia" ], "alt_id": [], "def": "Phocomelia involving all four extremities.", "synonym": [], "xref": [ "UMLS:C1849370" ], "is_a": [ "HP:0009829" ], "is_obsolete": "", "replace_id": "" }, "HP:0030722": { "name": [ "ectopic liver", "ectopic liver" ], "alt_id": [], "def": "Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter.", "synonym": [], "xref": [ "SNOMEDCT_US:253813000", "UMLS:C0431603" ], "is_a": [ "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0030723": { "name": [ "congenital megalourethra", "congenital megalourethra" ], "alt_id": [], "def": "Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa.", "synonym": [], "xref": [ "UMLS:C4280800" ], "is_a": [ "HP:0000795" ], "is_obsolete": "", "replace_id": "" }, "HP:0030724": { "name": [ "central nervous system cyst", "central nervous system cyst" ], "alt_id": [], "def": "A fluid-filled sac (cyst) located within the central nervous system.", "synonym": [ [ "cns cyst", "cns cyst" ], [ "cyst of the central nervous system", "cyst of the central nervous system" ] ], "xref": [ "MSH:D020863", "SNOMEDCT_US:277333006", "UMLS:C0349606" ], "is_a": [ "HP:0002011" ], "is_obsolete": "", "replace_id": "" }, "HP:0030725": { "name": [ "neurenteric cyst", "neurenteric cyst" ], "alt_id": [], "def": "The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.", "synonym": [], "xref": [ "MSH:D009436", "SNOMEDCT_US:253127008", "SNOMEDCT_US:41353005", "UMLS:C0027806" ], "is_a": [ "HP:0030724" ], "is_obsolete": "", "replace_id": "" }, "HP:0030726": { "name": [ "spinal neurenteric cyst", "spinal neurenteric cyst" ], "alt_id": [], "def": "A neurenteric cyst located in the spine.", "synonym": [], "xref": [ "UMLS:C4280799" ], "is_a": [ "HP:0030725" ], "is_obsolete": "", "replace_id": "" }, "HP:0030727": { "name": [ "intracranial neurenteric cyst", "intracranial neurenteric cyst" ], "alt_id": [], "def": "A neurenteric cyst located within the skull.", "synonym": [], "xref": [ "UMLS:C4280680" ], "is_a": [ "HP:0030725" ], "is_obsolete": "", "replace_id": "" }, "HP:0030728": { "name": [ "meromelia", "meromelia" ], "alt_id": [], "def": "Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot.", "synonym": [], "xref": [ "SNOMEDCT_US:60220000", "UMLS:C0265549" ], "is_a": [ "HP:0009826" ], "is_obsolete": "", "replace_id": "" }, "HP:0030729": { "name": [ "frontoethmoidal meningocele", "frontoethmoidal meningocele" ], "alt_id": [], "def": "A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones.", "synonym": [ [ "frontoethmoid meningocele", "frontoethmoid meningocele" ] ], "xref": [ "UMLS:C4280798" ], "is_a": [ "HP:0002435" ], "is_obsolete": "", "replace_id": "" }, "HP:0030730": { "name": [ "parietal meningocele", "parietal meningocele" ], "alt_id": [], "def": "A herniation of meninges through a congenital bone defect in the skull in the parietal region.", "synonym": [], "xref": [ "UMLS:C4280797" ], "is_a": [ "HP:0002435" ], "is_obsolete": "", "replace_id": "" }, "HP:0030731": { "name": [ "carcinoma", "carcinoma" ], "alt_id": [], "def": "A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).", "synonym": [], "xref": [ "MSH:D002277", "NCIT:C2916", "SNOMEDCT_US:68453008", "UMLS:C0007097" ], "is_a": [ "HP:0031492" ], "is_obsolete": "", "replace_id": "" }, "HP:0030732": { "name": [ "dysplastic tricuspid valve", "dysplastic tricuspid valve" ], "alt_id": [], "def": "A congenital malformation of the tricuspid valve characterized by leaflet deformation.", "synonym": [ [ "tricuspid valve dysplasia", "tricuspid valve dysplasia" ] ], "xref": [ "UMLS:C4255215" ], "is_a": [ "HP:0001702" ], "is_obsolete": "", "replace_id": "" }, "HP:0030733": { "name": [ "vesicoallantoic abdominal wall defect", "vesicoallantoic abdominal wall defect" ], "alt_id": [], "def": "An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst.", "synonym": [], "xref": [ "UMLS:C4280796" ], "is_a": [ "HP:0010478" ], "is_obsolete": "", "replace_id": "" }, "HP:0030735": { "name": [ "ureterovesical junction obstruction", "ureterovesical junction obstruction" ], "alt_id": [], "def": "Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle.", "synonym": [], "xref": [ "UMLS:C2609249" ], "is_a": [ "HP:0006000" ], "is_obsolete": "", "replace_id": "" }, "HP:0030736": { "name": [ "sacrococcygeal teratoma", "sacrococcygeal teratoma" ], "alt_id": [], "def": "A teratoma arising in the sacro-coccygeal region.", "synonym": [], "xref": [ "SNOMEDCT_US:281561000", "UMLS:C0559459" ], "is_a": [ "HP:0005107", "HP:0009792" ], "is_obsolete": "", "replace_id": "" }, "HP:0030737": { "name": [ "altman type i sacrococcygeal teratoma", "altman type i sacrococcygeal teratoma" ], "alt_id": [], "def": "A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks.", "synonym": [], "xref": [ "UMLS:C4280795" ], "is_a": [ "HP:0030736" ], "is_obsolete": "", "replace_id": "" }, "HP:0030738": { "name": [ "altman type ii sacrococcygeal teratoma", "altman type ii sacrococcygeal teratoma" ], "alt_id": [], "def": "A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.", "synonym": [], "xref": [ "UMLS:C4280794" ], "is_a": [ "HP:0030736" ], "is_obsolete": "", "replace_id": "" }, "HP:0030739": { "name": [ "altman type iii sacrococcygeal teratoma", "altman type iii sacrococcygeal teratoma" ], "alt_id": [], "def": "A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.", "synonym": [], "xref": [ "UMLS:C4280793" ], "is_a": [ "HP:0030736" ], "is_obsolete": "", "replace_id": "" }, "HP:0030740": { "name": [ "anomalous muscle bundle of the right ventricle", "anomalous muscle bundle of the right ventricle" ], "alt_id": [], "def": "An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.", "synonym": [ [ "right ventricular anomalous muscle bundle", "right ventricular anomalous muscle bundle" ] ], "xref": [ "UMLS:C4280792" ], "is_a": [ "HP:0001707" ], "is_obsolete": "", "replace_id": "" }, "HP:0030741": { "name": [ "mediastinal teratoma", "mediastinal teratoma" ], "alt_id": [], "def": "A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs).", "synonym": [ [ "teratoma of the mediastinum", "teratoma of the mediastinum" ] ], "xref": [ "NCIT:C6438 \"Mediastinal teratoma\"", "UMLS:C1334682" ], "is_a": [ "HP:0009792" ], "is_obsolete": "", "replace_id": "" }, "HP:0030742": { "name": [ "glial remnants posterior to lens", "glial remnant posterior to lens" ], "alt_id": [], "def": "This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot.", "synonym": [ [ "mittendorf dot", "mittendorf dot" ] ], "xref": [ "SNOMEDCT_US:370483001", "UMLS:C1299892" ], "is_a": [ "HP:0007968" ], "is_obsolete": "", "replace_id": "" }, "HP:0030743": { "name": [ "glial remnants anterior to the optic disc", "glial remnant anterior to the optic disc" ], "alt_id": [], "def": "Persistance of a posterior remnant of the hyaloid artery located at the optic disc.", "synonym": [ [ "bergmeister papilla", "bergmeister papilla" ] ], "xref": [ "UMLS:C4280791" ], "is_a": [ "HP:0007968" ], "is_obsolete": "", "replace_id": "" }, "HP:0030744": { "name": [ "hyaloid vascular remnant and retrolental mass", "hyaloid vascular remnant and retrolental mass" ], "alt_id": [], "def": "A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract.", "synonym": [], "xref": [ "UMLS:C4280790" ], "is_a": [ "HP:0007968" ], "is_obsolete": "", "replace_id": "" }, "HP:0030745": { "name": [ "dilatation of the ductus arteriosus", "dilatation of the ductus arteriosus" ], "alt_id": [], "def": "A saccular or fusiform dilation and elongation of the ductus arteriosus.", "synonym": [ [ "congenital ductus arteriosus aneurysm", "congenital ductus arteriosus aneurysm" ], [ "ductus arteriosus aneurysm", "ductus arteriosus aneurysm" ] ], "xref": [ "SNOMEDCT_US:233990006", "UMLS:C0398357" ], "is_a": [ "HP:0002617", "HP:0011603" ], "is_obsolete": "", "replace_id": "" }, "HP:0030746": { "name": [ "intraventricular hemorrhage", "intraventricular hemorrhage" ], "alt_id": [], "def": "Bleeding into the ventricles of the brain.", "synonym": [ [ "intraventricular haemorrhage", "intraventricular haemorrhage" ] ], "xref": [ "SNOMEDCT_US:23276006", "UMLS:C0240059" ], "is_a": [ "HP:0002170" ], "is_obsolete": "", "replace_id": "" }, "HP:0030747": { "name": [ "preterm intraventricular hemorrhage", "preterm intraventricular hemorrhage" ], "alt_id": [], "def": "Intraventricular hemorrhage that occurs in a premature infant.", "synonym": [ [ "preterm intraventricular haemorrhage", "preterm intraventricular haemorrhage" ] ], "xref": [ "UMLS:C4280789" ], "is_a": [ "HP:0030746" ], "is_obsolete": "", "replace_id": "" }, "HP:0030748": { "name": [ "grade i preterm intraventricular hemorrhage", "grade i preterm intraventricular hemorrhage" ], "alt_id": [], "def": "Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove.", "synonym": [ [ "germinal matrix haemorrhage", "germinal matrix haemorrhage" ], [ "germinal matrix hemorrhage", "germinal matrix hemorrhage" ], [ "grade i preterm intraventricular haemorrhage", "grade i preterm intraventricular haemorrhage" ] ], "xref": [ "SNOMEDCT_US:276650005", "UMLS:C0475737" ], "is_a": [ "HP:0030747" ], "is_obsolete": "", "replace_id": "" }, "HP:0030749": { "name": [ "grade ii preterm intraventricular hemorrhage", "grade ii preterm intraventricular hemorrhage" ], "alt_id": [], "def": "Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle.", "synonym": [ [ "grade ii preterm intraventricular haemorrhage", "grade ii preterm intraventricular haemorrhage" ] ], "xref": [ "UMLS:C4280788" ], "is_a": [ "HP:0030747" ], "is_obsolete": "", "replace_id": "" }, "HP:0030750": { "name": [ "grade iii preterm intraventricular hemorrhage", "grade iii preterm intraventricular hemorrhage" ], "alt_id": [], "def": "Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles.", "synonym": [ [ "grade iii preterm intraventricular haemorrhage", "grade iii preterm intraventricular haemorrhage" ] ], "xref": [ "UMLS:C4280787" ], "is_a": [ "HP:0030747" ], "is_obsolete": "", "replace_id": "" }, "HP:0030751": { "name": [ "grade iv preterm intraventricular hemorrhage", "grade iv preterm intraventricular hemorrhage" ], "alt_id": [], "def": "Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.", "synonym": [ [ "grade iv preterm intraventricular haemorrhage", "grade iv preterm intraventricular haemorrhage" ] ], "xref": [ "UMLS:C4280786" ], "is_a": [ "HP:0030747" ], "is_obsolete": "", "replace_id": "" }, "HP:0030752": { "name": [ "dacryocystocele", "dacryocystocele" ], "alt_id": [], "def": "A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve.", "synonym": [ [ "timo cyst", "timo cyst" ] ], "xref": [ "SNOMEDCT_US:42758002", "UMLS:C0155241" ], "is_a": [ "HP:0000579" ], "is_obsolete": "", "replace_id": "" }, "HP:0030753": { "name": [ "intrauterine fetal demise of one twin after midgestation", "intrauterine fetal demise of one twin after midgestation" ], "alt_id": [], "def": "Loss of one twin occurring after midgestation (17 weeks gestation).", "synonym": [ [ "intrauterine foetal demise of one twin after midgestation", "intrauterine foetal demise of one twin after midgestation" ], [ "single - twin demise", "single - twin demise" ] ], "xref": [ "UMLS:C4280785" ], "is_a": [ "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0030754": { "name": [ "allantoic cyst", "allantoic cyst" ], "alt_id": [], "def": "A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly.", "synonym": [], "xref": [ "MSH:D014496", "SNOMEDCT_US:17234001", "UMLS:C0041915" ], "is_a": [ "HP:0010478" ], "is_obsolete": "", "replace_id": "" }, "HP:0030755": { "name": [ "craniofacial teratoma", "craniofacial teratoma" ], "alt_id": [], "def": "A teratoma located in the craniofacial region.", "synonym": [], "xref": [ "NCIT:C3403", "UMLS:C4280784" ], "is_a": [ "HP:0009792" ], "is_obsolete": "", "replace_id": "" }, "HP:0030756": { "name": [ "erythrodontia", "erythrodontia" ], "alt_id": [], "def": "Reddish, brown opalescent discoloration of teeth in normal light.", "synonym": [ [ "red teeth", "red teeth" ] ], "xref": [ "UMLS:C4280783" ], "is_a": [ "HP:0011073" ], "is_obsolete": "", "replace_id": "" }, "HP:0030757": { "name": [ "tooth abscess", "tooth abscess" ], "alt_id": [], "def": "A pocket of pus located within a region of a tooth.", "synonym": [ [ "dental abscess", "dental abscess" ], [ "dentoalveolar abscess", "dentoalveolar abscess" ] ], "xref": [ "SNOMEDCT_US:299709002", "UMLS:C0518988" ], "is_a": [ "HP:0011061", "HP:0025615" ], "is_obsolete": "", "replace_id": "" }, "HP:0030758": { "name": [ "periapical tooth abscess", "periapical tooth abscess" ], "alt_id": [], "def": "A tooth abscess that occurs at the tip of the root (apex) of a tooth.", "synonym": [], "xref": [ "UMLS:C4280782" ], "is_a": [ "HP:0030757" ], "is_obsolete": "", "replace_id": "" }, "HP:0030759": { "name": [ "adipocyte hypertrophy", "adipocyte hypertrophy" ], "alt_id": [], "def": "An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy.", "synonym": [ [ "fat cell hypertrophy", "fat cell hypertrophy" ] ], "xref": [ "UMLS:C4280781" ], "is_a": [ "HP:0009124" ], "is_obsolete": "", "replace_id": "" }, "HP:0030760": { "name": [ "renal fibrosis", "renal fibrosis" ], "alt_id": [], "def": "Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease.", "synonym": [ [ "kidney fibrosis", "kidney fibrosis" ] ], "xref": [ "SNOMEDCT_US:197660000", "UMLS:C0151650" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0030761": { "name": [ "obsolete renal glomerular fibrosis", "obsolete renal glomerular fibrosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000096" }, "HP:0030762": { "name": [ "mesangiolysis", "mesangiolysis" ], "alt_id": [], "def": "Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain.", "synonym": [], "xref": [ "UMLS:C4054531" ], "is_a": [ "HP:0033232" ], "is_obsolete": "", "replace_id": "" }, "HP:0030763": { "name": [ "amniotic sheet", "amniotic sheet" ], "alt_id": [], "def": "A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion.", "synonym": [ [ "amniotic shelf", "amniotic shelf" ] ], "xref": [ "UMLS:C4280779" ], "is_a": [ "HP:0011409" ], "is_obsolete": "", "replace_id": "" }, "HP:0030764": { "name": [ "ochronosis", "ochronosis" ], "alt_id": [], "def": "Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved.", "synonym": [], "xref": [ "MSH:D009794", "SNOMEDCT_US:410042009", "UMLS:C0028817" ], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0030765": { "name": [ "sleep terror", "sleep terror" ], "alt_id": [], "def": "Episodes of intense fear, screaming and flailing although affected individuals are still asleep.", "synonym": [ [ "night terror", "night terror" ], [ "pavor nocturnus", "pavor nocturnus" ], [ "sleep terrors", "sleep terror" ] ], "xref": [ "MSH:D020184", "SNOMEDCT_US:89675003", "UMLS:C0037320" ], "is_a": [ "HP:0025235" ], "is_obsolete": "", "replace_id": "" }, "HP:0030766": { "name": [ "ear pain", "ear pain" ], "alt_id": [], "def": "Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).", "synonym": [ [ "ear pain", "ear pain" ], [ "otalgia", "otalgia" ], [ "pain in the ear", "pain in the ear" ] ], "xref": [ "MSH:D004433", "SNOMEDCT_US:16001004", "SNOMEDCT_US:162356005", "UMLS:C0013456" ], "is_a": [ "HP:0031704", "HP:0046506" ], "is_obsolete": "", "replace_id": "" }, "HP:0030767": { "name": [ "epignathus", "epignathus" ], "alt_id": [], "def": "Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate.", "synonym": [], "xref": [ "SNOMEDCT_US:31248004", "UMLS:C0266725" ], "is_a": [ "HP:0009792", "HP:0100649" ], "is_obsolete": "", "replace_id": "" }, "HP:0030769": { "name": [ "exencephaly", "exencephaly" ], "alt_id": [], "def": "A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.", "synonym": [], "xref": [ "MSH:D009436", "SNOMEDCT_US:84461004", "UMLS:C0266453" ], "is_a": [ "HP:0045005" ], "is_obsolete": "", "replace_id": "" }, "HP:0030770": { "name": [ "craniorachischisis", "craniorachischisis" ], "alt_id": [], "def": "A neural tube defect in which both the brain and spinal cord remain open to varying degrees.", "synonym": [], "xref": [ "MSH:D009436", "SNOMEDCT_US:32219008", "UMLS:C0152426" ], "is_a": [ "HP:0045005" ], "is_obsolete": "", "replace_id": "" }, "HP:0030771": { "name": [ "mallet finger", "mallet finger" ], "alt_id": [], "def": "Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own.", "synonym": [], "xref": [ "SNOMEDCT_US:64298006", "UMLS:C0158473" ], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0030772": { "name": [ "proximal femoral focal deficiency", "proximal femoral focal deficiency" ], "alt_id": [], "def": "Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb.", "synonym": [], "xref": [ "SNOMEDCT_US:205211001", "UMLS:C0431996" ], "is_a": [ "HP:0005613" ], "is_obsolete": "", "replace_id": "" }, "HP:0030773": { "name": [ "internuclear ophthalmoplegia", "internuclear ophthalmoplegia" ], "alt_id": [], "def": "An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule.", "synonym": [], "xref": [ "MSH:D015835", "SNOMEDCT_US:49823009", "UMLS:C0152134" ], "is_a": [ "HP:0000602" ], "is_obsolete": "", "replace_id": "" }, "HP:0030774": { "name": [ "mitochondrial swelling", "mitochondrial swelling" ], "alt_id": [], "def": "The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures.", "synonym": [], "xref": [ "MSH:D008933", "SNOMEDCT_US:125429001", "UMLS:C0026244" ], "is_a": [ "HP:0012087" ], "is_obsolete": "", "replace_id": "" }, "HP:0030775": { "name": [ "modic type vertebral endplate changes", "modic type vertebral endplate change" ], "alt_id": [], "def": "An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic.", "synonym": [], "xref": [ "UMLS:C4280778" ], "is_a": [ "HP:0003468" ], "is_obsolete": "", "replace_id": "" }, "HP:0030776": { "name": [ "modic type i vertebral endplate changes", "modic type i vertebral endplate change" ], "alt_id": [], "def": "An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation.", "synonym": [ [ "modic type 1 vertebral endplate changes", "modic type 1 vertebral endplate change" ] ], "xref": [ "UMLS:C4280777" ], "is_a": [ "HP:0030775" ], "is_obsolete": "", "replace_id": "" }, "HP:0030777": { "name": [ "modic type ii vertebral endplate changes", "modic type ii vertebral endplate change" ], "alt_id": [], "def": "An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow.", "synonym": [ [ "modic type 2 vertebral endplate changes", "modic type 2 vertebral endplate change" ] ], "xref": [ "UMLS:C4280776" ], "is_a": [ "HP:0030775" ], "is_obsolete": "", "replace_id": "" }, "HP:0030778": { "name": [ "modic type iii vertebral endplate changes", "modic type iii vertebral endplate change" ], "alt_id": [], "def": "An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs.", "synonym": [ [ "modic type 3 vertebral endplate changes", "modic type 3 vertebral endplate change" ] ], "xref": [ "UMLS:C4280775" ], "is_a": [ "HP:0030775" ], "is_obsolete": "", "replace_id": "" }, "HP:0030779": { "name": [ "ethmocephaly", "ethmocephaly" ], "alt_id": [], "def": "Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears.", "synonym": [], "xref": [ "SNOMEDCT_US:55709000", "UMLS:C0266680" ], "is_a": [ "HP:0001360" ], "is_obsolete": "", "replace_id": "" }, "HP:0030780": { "name": [ "abnormality of the protein c anticoagulant pathway", "abnormality of the protein c anticoagulant pathway" ], "alt_id": [], "def": "An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC.", "synonym": [], "xref": [ "UMLS:C4280774" ], "is_a": [ "HP:0003256" ], "is_obsolete": "", "replace_id": "" }, "HP:0030781": { "name": [ "increased circulating free fatty acid level", "increase circulate free fatty acid level" ], "alt_id": [], "def": "A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.", "synonym": [], "xref": [ "UMLS:C4280773" ], "is_a": [ "HP:0040300" ], "is_obsolete": "", "replace_id": "" }, "HP:0030782": { "name": [ "abnormal serum interleukin level", "abnormal serum interleukin level" ], "alt_id": [], "def": "An abnormal amount of any of the interleukins, a class of cytokines, in the circulation.", "synonym": [ [ "abnormal serum il level", "abnormal serum il level" ] ], "xref": [ "UMLS:C4280772" ], "is_a": [ "HP:0011112" ], "is_obsolete": "", "replace_id": "" }, "HP:0030783": { "name": [ "increased circulating interleukin 6", "increase circulate interleukin 6" ], "alt_id": [], "def": "An increased concentration of interleukin-6 in the circulation.", "synonym": [ [ "increased serum il - 6", "increase serum il - 6" ], [ "increased serum interleukin - 6", "increase serum interleukin - 6" ] ], "xref": [ "UMLS:C4280771" ], "is_a": [ "HP:0030782" ], "is_obsolete": "", "replace_id": "" }, "HP:0030784": { "name": [ "anomic aphasia", "anomic aphasia" ], "alt_id": [], "def": "An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name.", "synonym": [ [ "amnesic aphasia", "amnesic aphasia" ], [ "amnestic aphasia", "amnestic aphasia" ], [ "anomia", "anomia" ], [ "nominal aphasia", "nominal aphasia" ], [ "word - finding difficulty", "word - finding difficulty" ] ], "xref": [ "MSH:D000849", "SNOMEDCT_US:10325006", "UMLS:C0003113" ], "is_a": [ "HP:0002381" ], "is_obsolete": "", "replace_id": "" }, "HP:0030785": { "name": [ "mediastinal cystic lymphangioma", "mediastinal cystic lymphangioma" ], "alt_id": [], "def": "A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors.", "synonym": [ [ "intrathoracic cystic hygroma", "intrathoracic cystic hygroma" ], [ "thoracic cystic lymphangioma", "thoracic cystic lymphangioma" ] ], "xref": [ "UMLS:C4280770" ], "is_a": [ "HP:0100764" ], "is_obsolete": "", "replace_id": "" }, "HP:0030786": { "name": [ "photopsia", "photopsia" ], "alt_id": [], "def": "Perceived flashes of light.", "synonym": [], "xref": [ "SNOMEDCT_US:56170001", "UMLS:C0085635" ], "is_a": [ "HP:0000504" ], "is_obsolete": "", "replace_id": "" }, "HP:0030787": { "name": [ "cerumen abnormality", "cerumen abnormality" ], "alt_id": [], "def": "Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal.", "synonym": [], "xref": [ "UMLS:C4280769" ], "is_a": [ "HP:0000372" ], "is_obsolete": "", "replace_id": "" }, "HP:0030788": { "name": [ "impacted cerumen", "impact cerumen" ], "alt_id": [], "def": "Blockage of the external auditory canal by a buildup of earwax.", "synonym": [], "xref": [ "SNOMEDCT_US:18070006", "UMLS:C0021092" ], "is_a": [ "HP:0030787" ], "is_obsolete": "", "replace_id": "" }, "HP:0030789": { "name": [ "excessive cerumen", "excessive cerumen" ], "alt_id": [], "def": "An increased quantity of earwax.", "synonym": [], "xref": [ "UMLS:C1382811" ], "is_a": [ "HP:0030787" ], "is_obsolete": "", "replace_id": "" }, "HP:0030790": { "name": [ "abnormal cerumen color", "abnormal cerumen color" ], "alt_id": [], "def": "An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color.", "synonym": [ [ "abnormal cerumen colour", "abnormal cerumen colour" ], [ "abnormal cerumen pigmentation", "abnormal cerumen pigmentation" ] ], "xref": [ "UMLS:C4280768" ], "is_a": [ "HP:0030787" ], "is_obsolete": "", "replace_id": "" }, "HP:0030791": { "name": [ "abnormal jaw morphology", "abnormal jaw morphology" ], "alt_id": [], "def": "A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.", "synonym": [], "xref": [ "UMLS:C4280767" ], "is_a": [ "HP:0011821" ], "is_obsolete": "", "replace_id": "" }, "HP:0030792": { "name": [ "jaw neoplasm", "jaw neoplasm" ], "alt_id": [], "def": "A tumor originating in the jaw (mandible or maxilla).", "synonym": [], "xref": [ "MSH:D007573", "SNOMEDCT_US:126634001", "UMLS:C0022364" ], "is_a": [ "HP:0012289", "HP:0030791" ], "is_obsolete": "", "replace_id": "" }, "HP:0030793": { "name": [ "jaw swelling", "jaw swell" ], "alt_id": [], "def": "Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).", "synonym": [], "xref": [ "UMLS:C4280766" ], "is_a": [ "HP:0030791" ], "is_obsolete": "", "replace_id": "" }, "HP:0030794": { "name": [ "abnormal c - peptide level", "abnormal c - peptide level" ], "alt_id": [], "def": "An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.", "synonym": [ [ "abnormal c peptide level", "abnormal c peptide level" ] ], "xref": [ "UMLS:C4280765" ], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0030795": { "name": [ "reduced c - peptide level", "reduce c - peptide level" ], "alt_id": [], "def": "A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.", "synonym": [ [ "reduced c peptide level", "reduce c peptide level" ] ], "xref": [ "UMLS:C4280764" ], "is_a": [ "HP:0030794" ], "is_obsolete": "", "replace_id": "" }, "HP:0030796": { "name": [ "increased c - peptide level", "increase c - peptide level" ], "alt_id": [], "def": "An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion.", "synonym": [ [ "increased c peptide level", "increase c peptide level" ] ], "xref": [ "UMLS:C4280763" ], "is_a": [ "HP:0030794" ], "is_obsolete": "", "replace_id": "" }, "HP:0030797": { "name": [ "reduced volume of central subdivision of bed nucleus of stria terminalis", "reduced volume of central subdivision of bed nucleus of stria terminalis" ], "alt_id": [], "def": "A diminished volume of the central part of the bed nucleus of the stria terminalis.", "synonym": [], "xref": [ "UMLS:C4280762" ], "is_a": [ "HP:0030798" ], "is_obsolete": "", "replace_id": "" }, "HP:0030798": { "name": [ "abnormality of the bed nucleus of stria terminalis", "abnormality of the bed nucleus of stria terminalis" ], "alt_id": [], "def": "The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus.", "synonym": [], "xref": [ "UMLS:C4280761" ], "is_a": [ "HP:0002500" ], "is_obsolete": "", "replace_id": "" }, "HP:0030799": { "name": [ "scaphocephaly", "scaphocephaly" ], "alt_id": [], "def": "Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.", "synonym": [], "xref": [ "MSH:D003398", "SNOMEDCT_US:4191007", "UMLS:C0265534" ], "is_a": [ "HP:0000268" ], "is_obsolete": "", "replace_id": "" }, "HP:0030800": { "name": [ "abnormal visual accommodation", "abnormal visual accommodation" ], "alt_id": [], "def": "An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power.", "synonym": [], "xref": [ "UMLS:C4280760" ], "is_a": [ "HP:0012373" ], "is_obsolete": "", "replace_id": "" }, "HP:0030801": { "name": [ "reduced visual accommodation", "reduce visual accommodation" ], "alt_id": [], "def": "A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances.", "synonym": [], "xref": [ "UMLS:C4280759" ], "is_a": [ "HP:0030800" ], "is_obsolete": "", "replace_id": "" }, "HP:0030802": { "name": [ "lower eyelid retraction", "low eyelid retraction" ], "alt_id": [], "def": "Inferior malposition of the lower eyelid margin without eyelid eversion.", "synonym": [], "xref": [ "SNOMEDCT_US:700264006", "UMLS:C1861656" ], "is_a": [ "HP:0500043" ], "is_obsolete": "", "replace_id": "" }, "HP:0030803": { "name": [ "platonychia", "platonychia" ], "alt_id": [], "def": "Abnormal flat nail.", "synonym": [], "xref": [ "UMLS:C1853986" ], "is_a": [ "HP:0002164" ], "is_obsolete": "", "replace_id": "" }, "HP:0030804": { "name": [ "trachyonychia", "trachyonychia" ], "alt_id": [], "def": "Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix.", "synonym": [], "xref": [ "SNOMEDCT_US:69192004", "UMLS:C0546956" ], "is_a": [ "HP:0002164" ], "is_obsolete": "", "replace_id": "" }, "HP:0030805": { "name": [ "absent lunula", "absent lunula" ], "alt_id": [], "def": "Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail.", "synonym": [ [ "absent lunulae", "absent lunula" ], [ "lunula absent", "lunula absent" ], [ "lunulae absent", "lunula absent" ] ], "xref": [ "UMLS:C4280758" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0030806": { "name": [ "fast - growing nails", "fast - grow nail" ], "alt_id": [], "def": "Nails whose growth is quicker than normal.", "synonym": [], "xref": [ "UMLS:C4280757" ], "is_a": [ "HP:0030807" ], "is_obsolete": "", "replace_id": "" }, "HP:0030807": { "name": [ "abnormal nail growth", "abnormal nail growth" ], "alt_id": [], "def": "Nail whose growth pattern or speed deviates from normal.", "synonym": [], "xref": [ "UMLS:C1610609" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0030808": { "name": [ "ragged cuticle", "rag cuticle" ], "alt_id": [], "def": "The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle.", "synonym": [], "xref": [ "UMLS:C4280756" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0030809": { "name": [ "abnormal tongue morphology", "abnormal tongue morphology" ], "alt_id": [], "def": "Any structural anomaly of the tongue.", "synonym": [], "xref": [ "UMLS:C4280755" ], "is_a": [ "HP:0000157" ], "is_obsolete": "", "replace_id": "" }, "HP:0030810": { "name": [ "abnormal tongue physiology", "abnormal tongue physiology" ], "alt_id": [], "def": "Any functional anomaly of the tongue.", "synonym": [], "xref": [ "UMLS:C4280754" ], "is_a": [ "HP:0000157" ], "is_obsolete": "", "replace_id": "" }, "HP:0030811": { "name": [ "tongue pain", "tongue pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue.", "synonym": [ [ "painful tongue", "painful tongue" ] ], "xref": [ "MSH:D005926", "SNOMEDCT_US:30731004", "UMLS:C0017672" ], "is_a": [ "HP:0030810", "HP:0046506" ], "is_obsolete": "", "replace_id": "" }, "HP:0030812": { "name": [ "enlarged tonsils", "enlarge tonsil" ], "alt_id": [], "def": "Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.", "synonym": [ [ "enlargment of tonsils", "enlargment of tonsil" ], [ "tonsillar hypertrophy", "tonsillar hypertrophy" ], [ "tonsils large / hypertrophy", "tonsil large / hypertrophy" ] ], "xref": [ "SNOMEDCT_US:46689006", "UMLS:C0272386" ], "is_a": [ "HP:0100765" ], "is_obsolete": "", "replace_id": "" }, "HP:0030813": { "name": [ "absent tonsils", "absent tonsil" ], "alt_id": [], "def": "Lack of observable tonsillar tissue.", "synonym": [ [ "hypoplastic tonsils", "hypoplastic tonsil" ], [ "tonsillar hypoplasia", "tonsillar hypoplasia" ] ], "xref": [ "SNOMEDCT_US:249393008", "SNOMEDCT_US:300277007", "UMLS:C0576999" ], "is_a": [ "HP:0100765" ], "is_obsolete": "", "replace_id": "" }, "HP:0030814": { "name": [ "orange discolored tonsils", "orange discolor tonsil" ], "alt_id": [], "def": "A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.", "synonym": [ [ "orange colored tonsils", "orange color tonsil" ], [ "orange coloured tonsils", "orange colour tonsil" ], [ "orange discoloured tonsils", "orange discolour tonsil" ], [ "orange tonsils", "orange tonsil" ], [ "tonsils with orange deposits", "tonsil with orange deposit" ] ], "xref": [ "UMLS:C4280753" ], "is_a": [ "HP:0100765" ], "is_obsolete": "", "replace_id": "" }, "HP:0030815": { "name": [ "lipoma of the tongue", "lipoma of the tongue" ], "alt_id": [], "def": "A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.", "synonym": [ [ "tongue lipoma", "tongue lipoma" ] ], "xref": [ "UMLS:C0238467" ], "is_a": [ "HP:0012032", "HP:0100648" ], "is_obsolete": "", "replace_id": "" }, "HP:0030816": { "name": [ "gingival recession", "gingival recession" ], "alt_id": [], "def": "The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth.", "synonym": [ [ "gum recession", "gum recession" ], [ "receding gums", "recede gum" ] ], "xref": [ "MSH:D005889", "SNOMEDCT_US:4356008", "UMLS:C0017572" ], "is_a": [ "HP:0000168" ], "is_obsolete": "", "replace_id": "" }, "HP:0030817": { "name": [ "beaked nails", "beak nail" ], "alt_id": [], "def": "Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit.", "synonym": [], "xref": [ "UMLS:C4280752" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0030818": { "name": [ "central nail canal", "central nail canal" ], "alt_id": [], "def": "The presense of a depressed line (\\\"canal\\\") in the center of the nail.", "synonym": [ [ "median nail dystrophy", "median nail dystrophy" ] ], "xref": [ "SNOMEDCT_US:238718006", "SNOMEDCT_US:86393005", "UMLS:C0263526" ], "is_a": [ "HP:0008404" ], "is_obsolete": "", "replace_id": "" }, "HP:0030819": { "name": [ "ski jump nail", "ski jump nail" ], "alt_id": [], "def": "Nails that slope upward at the free edge.", "synonym": [ [ "upslanting nail", "upslanting nail" ], [ "upward angulation of nail", "upward angulation of nail" ] ], "xref": [ "UMLS:C4280751" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0030820": { "name": [ "hooded eyelid", "hood eyelid" ], "alt_id": [], "def": "Eyelid partly covered by skin when eyes are open.", "synonym": [], "xref": [ "UMLS:C3277348" ], "is_a": [ "HP:0000492" ], "is_obsolete": "", "replace_id": "" }, "HP:0030821": { "name": [ "hooded lower eyelid", "hood low eyelid" ], "alt_id": [], "def": "Lower eyelid partly covered by skin when eyes are open.", "synonym": [], "xref": [ "UMLS:C4280750" ], "is_a": [ "HP:0030820" ], "is_obsolete": "", "replace_id": "" }, "HP:0030822": { "name": [ "hooded upper eyelid", "hood upper eyelid" ], "alt_id": [], "def": "Upper eyelid partly covered by skin when eyes are open.", "synonym": [], "xref": [ "UMLS:C4280749" ], "is_a": [ "HP:0030820" ], "is_obsolete": "", "replace_id": "" }, "HP:0030823": { "name": [ "scleral thickening", "scleral thickening" ], "alt_id": [], "def": "Increased dimension of the sclera in the anterior-posterior axis.", "synonym": [ [ "thick sclera", "thick sclera" ] ], "xref": [ "UMLS:C2674403" ], "is_a": [ "HP:0000591" ], "is_obsolete": "", "replace_id": "" }, "HP:0030824": { "name": [ "mizuo phenomenon", "mizuo phenomenon" ], "alt_id": [], "def": "Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].", "synonym": [ [ "mizuo - nakamura phenomenon", "mizuo - nakamura phenomenon" ] ], "xref": [ "UMLS:C4280748" ], "is_a": [ "HP:0001098" ], "is_obsolete": "", "replace_id": "" }, "HP:0030825": { "name": [ "absent foveal reflex", "absent foveal reflex" ], "alt_id": [], "def": "Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.", "synonym": [ [ "foveal reflex absent", "foveal reflex absent" ], [ "loss of foveal reflex", "loss of foveal reflex" ] ], "xref": [ "SNOMEDCT_US:247144003", "UMLS:C0423420" ], "is_a": [ "HP:0000493" ], "is_obsolete": "", "replace_id": "" }, "HP:0030826": { "name": [ "eyelid fasciculation", "eyelid fasciculation" ], "alt_id": [], "def": "Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching.", "synonym": [ [ "eyelid fluttering", "eyelid fluttering" ], [ "fasciculation of the eyelid", "fasciculation of the eyelid" ], [ "muscle twitches in eye lid", "muscle twitch in eye lid" ], [ "muscle twitches in eyelid", "muscle twitch in eyelid" ], [ "twitching around eyes", "twitch around eye" ] ], "xref": [ "UMLS:C4280682" ], "is_a": [ "HP:0031785" ], "is_obsolete": "", "replace_id": "" }, "HP:0030828": { "name": [ "wheezing", "wheeze" ], "alt_id": [], "def": "A high-pitched whistling sound associated with labored breathing.", "synonym": [ [ "wheezing", "wheeze" ] ], "xref": [ "MSH:D012135", "SNOMEDCT_US:56018004", "UMLS:C0043144" ], "is_a": [ "HP:0030829" ], "is_obsolete": "", "replace_id": "" }, "HP:0030829": { "name": [ "abnormal breath sound", "abnormal breath sound" ], "alt_id": [], "def": "An anomalous (adventitious) sound produced by the breathing process.", "synonym": [ [ "abnormal lung auscultation finding", "abnormal lung auscultation find" ] ], "xref": [ "SNOMEDCT_US:301273002", "UMLS:C0231856" ], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0030830": { "name": [ "crackles", "crackle" ], "alt_id": [], "def": "Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.", "synonym": [ [ "crepitations", "crepitation" ], [ "rales", "rale" ] ], "xref": [ "MSH:D012135", "SNOMEDCT_US:48409008", "UMLS:C0034642" ], "is_a": [ "HP:0030829" ], "is_obsolete": "", "replace_id": "" }, "HP:0030831": { "name": [ "rhonchi", "rhonchus" ], "alt_id": [], "def": "Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.", "synonym": [], "xref": [ "MSH:D012135", "SNOMEDCT_US:24612001", "UMLS:C0035508" ], "is_a": [ "HP:0030829" ], "is_obsolete": "", "replace_id": "" }, "HP:0030832": { "name": [ "vitreous strands", "vitreous strand" ], "alt_id": [], "def": "Fiber- or rope-like opacities located within the vitreous humor.", "synonym": [], "xref": [ "SNOMEDCT_US:28167005", "UMLS:C0271408" ], "is_a": [ "HP:0100832" ], "is_obsolete": "", "replace_id": "" }, "HP:0030833": { "name": [ "neck pain", "neck pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.", "synonym": [ [ "neck pain", "neck pain" ] ], "xref": [ "MSH:D019547", "SNOMEDCT_US:81680005", "UMLS:C0007859" ], "is_a": [ "HP:0046506" ], "is_obsolete": "", "replace_id": "" }, "HP:0030834": { "name": [ "shoulder pain", "shoulder pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.", "synonym": [ [ "shoulder pain", "shoulder pain" ] ], "xref": [ "MSH:D020069", "SNOMEDCT_US:45326000", "UMLS:C0037011" ], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0030835": { "name": [ "elbow pain", "elbow pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow.", "synonym": [ [ "elbow pain", "elbow pain" ] ], "xref": [ "SNOMEDCT_US:74323005", "UMLS:C0239266" ], "is_a": [ "HP:0012513" ], "is_obsolete": "", "replace_id": "" }, "HP:0030836": { "name": [ "wrist pain", "wrist pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.", "synonym": [ [ "wrist pain", "wrist pain" ] ], "xref": [ "SNOMEDCT_US:202482009", "SNOMEDCT_US:56608008", "UMLS:C0221785" ], "is_a": [ "HP:0012513" ], "is_obsolete": "", "replace_id": "" }, "HP:0030837": { "name": [ "finger pain", "finger pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger.", "synonym": [ [ "finger pain", "finger pain" ] ], "xref": [ "SNOMEDCT_US:18876004", "UMLS:C0239589" ], "is_a": [ "HP:0046505" ], "is_obsolete": "", "replace_id": "" }, "HP:0030838": { "name": [ "hip pain", "hip pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.", "synonym": [ [ "hip pain", "hip pain" ] ], "xref": [ "SNOMEDCT_US:49218002", "UMLS:C0019559" ], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0030839": { "name": [ "knee pain", "knee pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.", "synonym": [ [ "knee pain", "knee pain" ], [ "pain under knee cap", "pain under knee cap" ] ], "xref": [ "SNOMEDCT_US:30989003", "UMLS:C0231749" ], "is_a": [ "HP:0012514" ], "is_obsolete": "", "replace_id": "" }, "HP:0030840": { "name": [ "ankle pain", "ankle pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.", "synonym": [ [ "ankle pain", "ankle pain" ] ], "xref": [ "SNOMEDCT_US:202490009", "SNOMEDCT_US:247373008", "UMLS:C0238656" ], "is_a": [ "HP:0012514" ], "is_obsolete": "", "replace_id": "" }, "HP:0030841": { "name": [ "toe pain", "toe pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe.", "synonym": [ [ "toe pain", "toe pain" ] ], "xref": [ "SNOMEDCT_US:285365001", "UMLS:C0241416" ], "is_a": [ "HP:0012514" ], "is_obsolete": "", "replace_id": "" }, "HP:0030842": { "name": [ "choking episodes", "choke episode" ], "alt_id": [], "def": "Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.", "synonym": [], "xref": [ "UMLS:C4280747" ], "is_a": [ "HP:0100738" ], "is_obsolete": "", "replace_id": "" }, "HP:0030843": { "name": [ "cardiac amyloidosis", "cardiac amyloidosis" ], "alt_id": [ "HP:0200126" ], "def": "Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.", "synonym": [ [ "amyloid cardiomyopathy", "amyloid cardiomyopathy" ] ], "xref": [ "SNOMEDCT_US:16573007", "UMLS:C0268407" ], "is_a": [ "HP:0001637", "HP:0011034" ], "is_obsolete": "", "replace_id": "" }, "HP:0030844": { "name": [ "undetectable pattern electroretinogram", "undetectable pattern electroretinogram" ], "alt_id": [], "def": "Absent response to a pattern electroretinogram (PERG).", "synonym": [], "xref": [ "UMLS:C4280746" ], "is_a": [ "HP:0030467" ], "is_obsolete": "", "replace_id": "" }, "HP:0030845": { "name": [ "heliotrope rash of eyelid", "heliotrope rash of eyelid" ], "alt_id": [], "def": "Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema.", "synonym": [], "xref": [ "UMLS:C4280745" ], "is_a": [ "HP:0000492", "HP:0040324" ], "is_obsolete": "", "replace_id": "" }, "HP:0030846": { "name": [ "abnormality of venous physiology", "abnormality of venous physiology" ], "alt_id": [], "def": "An anomaly of venous function.", "synonym": [], "xref": [ "UMLS:C4280744" ], "is_a": [ "HP:0030163" ], "is_obsolete": "", "replace_id": "" }, "HP:0030847": { "name": [ "abnormal jugular venous pressure", "abnormal jugular venous pressure" ], "alt_id": [], "def": "An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure.", "synonym": [], "xref": [ "SNOMEDCT_US:62436006", "UMLS:C0520860" ], "is_a": [ "HP:0030846" ], "is_obsolete": "", "replace_id": "" }, "HP:0030848": { "name": [ "elevated jugular venous pressure", "elevate jugular venous pressure" ], "alt_id": [], "def": "Increased jugular venous pressure.", "synonym": [], "xref": [ "SNOMEDCT_US:22447003", "UMLS:C0520861" ], "is_a": [ "HP:0030847" ], "is_obsolete": "", "replace_id": "" }, "HP:0030849": { "name": [ "hepatojugular reflux", "hepatojugular reflux" ], "alt_id": [], "def": "The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux.", "synonym": [], "xref": [ "SNOMEDCT_US:72196001", "UMLS:C0239949" ], "is_a": [ "HP:0030847" ], "is_obsolete": "", "replace_id": "" }, "HP:0030850": { "name": [ "abnormal pulse pressure", "abnormal pulse pressure" ], "alt_id": [], "def": "An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.", "synonym": [], "xref": [ "UMLS:C0855322" ], "is_a": [ "HP:0030163" ], "is_obsolete": "", "replace_id": "" }, "HP:0030851": { "name": [ "low pulse pressure", "low pulse pressure" ], "alt_id": [], "def": "Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).", "synonym": [], "xref": [ "UMLS:C4280743" ], "is_a": [ "HP:0030850" ], "is_obsolete": "", "replace_id": "" }, "HP:0030852": { "name": [ "high pulse pressure", "high pulse pressure" ], "alt_id": [], "def": "Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).", "synonym": [], "xref": [ "UMLS:C0855323" ], "is_a": [ "HP:0030850" ], "is_obsolete": "", "replace_id": "" }, "HP:0030853": { "name": [ "heterotaxy", "heterotaxy" ], "alt_id": [], "def": "An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.", "synonym": [ [ "heterotaxia", "heterotaxia" ] ], "xref": [ "Fyler:0190", "Fyler:190", "MSH:D059446", "SNOMEDCT_US:14821001", "SNOMEDCT_US:24614000", "UMLS:C0266642" ], "is_a": [ "HP:0001507" ], "is_obsolete": "", "replace_id": "" }, "HP:0030854": { "name": [ "scleral staphyloma", "scleral staphyloma" ], "alt_id": [], "def": "A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.", "synonym": [ [ "staphyloma", "staphyloma" ] ], "xref": [ "SNOMEDCT_US:111534007", "UMLS:C0155359" ], "is_a": [ "HP:0000591" ], "is_obsolete": "", "replace_id": "" }, "HP:0030855": { "name": [ "anterior staphyloma", "anterior staphyloma" ], "alt_id": [], "def": "A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.", "synonym": [], "xref": [ "SNOMEDCT_US:231888000", "UMLS:C0339206" ], "is_a": [ "HP:0030854" ], "is_obsolete": "", "replace_id": "" }, "HP:0030856": { "name": [ "posterior staphyloma", "posterior staphyloma" ], "alt_id": [], "def": "A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.", "synonym": [], "xref": [ "SNOMEDCT_US:87819007", "UMLS:C0155360" ], "is_a": [ "HP:0030854" ], "is_obsolete": "", "replace_id": "" }, "HP:0030857": { "name": [ "eye movement - induced pain", "eye movement - induced pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding.", "synonym": [], "xref": [ "UMLS:C4280742" ], "is_a": [ "HP:0200026" ], "is_obsolete": "", "replace_id": "" }, "HP:0030858": { "name": [ "addictive behavior", "addictive behavior" ], "alt_id": [], "def": "A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains.", "synonym": [ [ "addictive behaviour", "addictive behaviour" ] ], "xref": [ "MSH:D016739", "SNOMEDCT_US:32709003", "UMLS:C0085281" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0030859": { "name": [ "anti - topoisomerase i antibody positivity", "anti - topoisomerase i antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I.", "synonym": [ [ "top1 antibody positivity", "top1 antibody positivity" ], [ "topoisomerase ( dna ) i antibody positivity", "topoisomerase ( dna ) i antibody positivity" ] ], "xref": [ "UMLS:C4280741" ], "is_a": [ "HP:0033476" ], "is_obsolete": "", "replace_id": "" }, "HP:0030860": { "name": [ "abnormal csf amyloid level", "abnormal csf amyloid level" ], "alt_id": [], "def": "Abnormal concentration of amyloid in the cerebrospinal fluid (CSF).", "synonym": [ [ "abnormal csf a [ beta ] 42 level", "abnormal csf a [ beta ] 42 level" ] ], "xref": [ "UMLS:C4280740" ], "is_a": [ "HP:0025456" ], "is_obsolete": "", "replace_id": "" }, "HP:0030861": { "name": [ "decreased csf amyloid level", "decrease csf amyloid level" ], "alt_id": [], "def": "Reduced concentration of amyloid in the cerebrospinal fluid (CSF).", "synonym": [], "xref": [ "UMLS:C4280739" ], "is_a": [ "HP:0030860" ], "is_obsolete": "", "replace_id": "" }, "HP:0030862": { "name": [ "elevated csf amyloid level", "elevate csf amyloid level" ], "alt_id": [], "def": "Increased concentration of amyloid in the cerebrospinal fluid (CSF).", "synonym": [], "xref": [ "UMLS:C4280738" ], "is_a": [ "HP:0030860" ], "is_obsolete": "", "replace_id": "" }, "HP:0030863": { "name": [ "nasal flaring", "nasal flare" ], "alt_id": [], "def": "Widening of the nostrils upon inhalation as a manifestation of respiratory distress.", "synonym": [], "xref": [ "SNOMEDCT_US:21558008", "SNOMEDCT_US:248568003", "UMLS:C0277873" ], "is_a": [ "HP:0002098" ], "is_obsolete": "", "replace_id": "" }, "HP:0030864": { "name": [ "intercostal retractions", "intercostal retraction" ], "alt_id": [], "def": "A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress.", "synonym": [ [ "chest retractions", "chest retraction" ] ], "xref": [ "SNOMEDCT_US:6442005", "UMLS:C0425470" ], "is_a": [ "HP:0002098" ], "is_obsolete": "", "replace_id": "" }, "HP:0030865": { "name": [ "large elbow", "large elbow" ], "alt_id": [], "def": "Abnormal increased size of the elbow joint.", "synonym": [ [ "prominent elbow", "prominent elbow" ] ], "xref": [ "UMLS:C4280737" ], "is_a": [ "HP:0009811" ], "is_obsolete": "", "replace_id": "" }, "HP:0030866": { "name": [ "large knee", "large knee" ], "alt_id": [], "def": "Abnormally increased size of the knee joint.", "synonym": [], "xref": [ "UMLS:C4280736" ], "is_a": [ "HP:0002815" ], "is_obsolete": "", "replace_id": "" }, "HP:0030867": { "name": [ "vertical orbital dystopia", "vertical orbital dystopia" ], "alt_id": [], "def": "The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other.", "synonym": [ [ "eyes at different heights", "eye at different height" ], [ "misaligned eyes", "misalign eye" ], [ "unequal eye height", "unequal eye height" ] ], "xref": [ "SNOMEDCT_US:253243008", "UMLS:C0431460" ], "is_a": [ "HP:0100886" ], "is_obsolete": "", "replace_id": "" }, "HP:0030868": { "name": [ "monorchism", "monorchism" ], "alt_id": [], "def": "Having only one testis in the scrotum.", "synonym": [ [ "monorchidism", "monorchidism" ] ], "xref": [ "SNOMEDCT_US:87310001", "UMLS:C0266429" ], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0030869": { "name": [ "anorchism", "anorchism" ], "alt_id": [], "def": "An abnormality of XY sexual development characterized by the absence of both testes at birth.", "synonym": [], "xref": [ "MSH:C537770", "SNOMEDCT_US:371015003", "UMLS:C1261504" ], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0030870": { "name": [ "abnormality of spinal facet joint", "abnormality of spinal facet joint" ], "alt_id": [], "def": "An anomaly of the small joints located between and behind adjacent vertebrae.", "synonym": [ [ "abnormality of apophyseal joint", "abnormality of apophyseal joint" ], [ "abnormality of z - joint", "abnormality of z - joint" ], [ "abnormality of zygapophyseal joint", "abnormality of zygapophyseal joint" ], [ "abnormality of zygapophysial joint", "abnormality of zygapophysial joint" ] ], "xref": [ "UMLS:C4280735" ], "is_a": [ "HP:0003312" ], "is_obsolete": "", "replace_id": "" }, "HP:0030871": { "name": [ "facet joint arthrosis", "facet joint arthrosis" ], "alt_id": [], "def": "Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray.", "synonym": [ [ "facet arthritis", "facet arthritis" ] ], "xref": [ "UMLS:C4280734" ], "is_a": [ "HP:0030870" ], "is_obsolete": "", "replace_id": "" }, "HP:0030872": { "name": [ "abnormal cardiac ventricular function", "abnormal cardiac ventricular function" ], "alt_id": [], "def": "An abnormality of the cardiac ventricular function.", "synonym": [], "xref": [ "UMLS:C4280733" ], "is_a": [ "HP:0011025" ], "is_obsolete": "", "replace_id": "" }, "HP:0030873": { "name": [ "anti - centromere antibody positivity", "anti - centromere antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.", "synonym": [ [ "aca positivity", "aca positivity" ], [ "anti - centromere antibody positivity", "anti - centromere antibody positivity" ], [ "anticentromere antibody positivity", "anticentromere antibody positivity" ] ], "xref": [ "UMLS:C4280732" ], "is_a": [ "HP:0003493" ], "is_obsolete": "", "replace_id": "" }, "HP:0030874": { "name": [ "oxygen desaturation on exertion", "oxygen desaturation on exertion" ], "alt_id": [], "def": "Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa.", "synonym": [ [ "o2 desaturation on exertion", "o2 desaturation on exertion" ] ], "xref": [ "UMLS:C4280731" ], "is_a": [ "HP:0012418" ], "is_obsolete": "", "replace_id": "" }, "HP:0030875": { "name": [ "abnormality of pulmonary circulation", "abnormality of pulmonary circulation" ], "alt_id": [], "def": "A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.", "synonym": [ [ "abnormal pulmonary circulation", "abnormal pulmonary circulation" ], [ "abnormality of respiratory circulation", "abnormality of respiratory circulation" ] ], "xref": [ "UMLS:C4280730" ], "is_a": [ "HP:0002795", "HP:0030163" ], "is_obsolete": "", "replace_id": "" }, "HP:0030876": { "name": [ "increased pulmonary capillary wedge pressure", "increase pulmonary capillary wedge pressure" ], "alt_id": [], "def": "Pulmonary capillary wedge pressure (PCWP) above 15mmHg.", "synonym": [ [ "increased pulmonary arterial wedge pressure", "increase pulmonary arterial wedge pressure" ], [ "increased pulmonary artery occlusion pressure", "increase pulmonary artery occlusion pressure" ] ], "xref": [ "SNOMEDCT_US:30261008", "UMLS:C0520850" ], "is_a": [ "HP:0030875" ], "is_obsolete": "", "replace_id": "" }, "HP:0030877": { "name": [ "reduced fev1 / fvc ratio", "reduce fev1 / fvc ratio" ], "alt_id": [], "def": "Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).", "synonym": [ [ "obstructive deficit on pulmonary function test", "obstructive deficit on pulmonary function test" ], [ "obstructive deficit on pulmonary function testing", "obstructive deficit on pulmonary function test" ] ], "xref": [ "UMLS:C4280729" ], "is_a": [ "HP:0006536", "HP:0030878" ], "is_obsolete": "", "replace_id": "" }, "HP:0030878": { "name": [ "abnormality on pulmonary function testing", "abnormality on pulmonary function test" ], "alt_id": [ "HP:0032340" ], "def": "Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.", "synonym": [ [ "abnormal pulmonary function test", "abnormal pulmonary function test" ], [ "abnormal spirometry test", "abnormal spirometry test" ] ], "xref": [ "UMLS:C4280728" ], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0030879": { "name": [ "interlobular septal thickening", "interlobular septal thickening" ], "alt_id": [], "def": "Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.", "synonym": [ [ "interlobular lines ( pulmonary ct finding )", "interlobular line ( pulmonary ct finding )" ], [ "interlobular septal thickening on pulmonary hrct", "interlobular septal thicken on pulmonary hrct" ], [ "peripheral lines ( pulmonary ct finding )", "peripheral line ( pulmonary ct finding )" ], [ "septal lines ( pulmonary ct finding )", "septal line ( pulmonary ct finding )" ], [ "septal thickening ( pulmonary ct finding )", "septal thickening ( pulmonary ct finding )" ], [ "short lines ( pumonary ct finding )", "short line ( pumonary ct finding )" ] ], "xref": [ "UMLS:C4280727" ], "is_a": [ "HP:0033711" ], "is_obsolete": "", "replace_id": "" }, "HP:0030880": { "name": [ "raynaud phenomenon", "raynaud phenomenon" ], "alt_id": [], "def": "", "synonym": [ [ "raynaud disease", "raynaud disease" ], [ "raynaud 's phenomenon", "raynaud 's phenomenon" ] ], "xref": [ "MSH:D011928", "SNOMEDCT_US:266261006", "UMLS:C0034735" ], "is_a": [ "HP:0025323" ], "is_obsolete": "", "replace_id": "" }, "HP:0030881": { "name": [ "shoulder impingement", "shoulder impingement" ], "alt_id": [], "def": "Trapping and compression of the rotator cuff tendons during shoulder movements.", "synonym": [], "xref": [ "UMLS:C1655733" ], "is_a": [ "HP:0033129" ], "is_obsolete": "", "replace_id": "" }, "HP:0030882": { "name": [ "coronary artery aneurysm", "coronary artery aneurysm" ], "alt_id": [], "def": "Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel.", "synonym": [ [ "coronary arterial dilatation", "coronary arterial dilatation" ], [ "coronary artery dilatation", "coronary artery dilatation" ], [ "coronary artery ectasia", "coronary artery ectasia" ] ], "xref": [ "Fyler:3129", "UMLS:C4255100" ], "is_a": [ "HP:0006704" ], "is_obsolete": "", "replace_id": "" }, "HP:0030883": { "name": [ "femoroacetabular impingement", "femoroacetabular impingement" ], "alt_id": [], "def": "Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.", "synonym": [ [ "femoral acetabular impingement", "femoral acetabular impingement" ] ], "xref": [ "MSH:D057925", "SNOMEDCT_US:432473000", "UMLS:C2936290" ], "is_a": [ "HP:0001384" ], "is_obsolete": "", "replace_id": "" }, "HP:0030884": { "name": [ "gastrojejunal tube feeding in infancy", "gastrojejunal tube feeding in infancy" ], "alt_id": [], "def": "Feeding problem necessitating gastrojejunal tube feeding.", "synonym": [ [ "gastro - jejunal tube feeding in infancy", "gastro - jejunal tube feeding in infancy" ] ], "xref": [ "UMLS:C4280681" ], "is_a": [ "HP:0008872", "HP:0033454" ], "is_obsolete": "", "replace_id": "" }, "HP:0030885": { "name": [ "recurrent parasitic infections", "recurrent parasitic infection" ], "alt_id": [], "def": "Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection.", "synonym": [], "xref": [ "UMLS:C4280726" ], "is_a": [ "HP:0002719", "HP:0020108" ], "is_obsolete": "", "replace_id": "" }, "HP:0030886": { "name": [ "abnormal lymphocyte apoptosis", "abnormal lymphocyte apoptosis" ], "alt_id": [], "def": "A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes.", "synonym": [], "xref": [ "UMLS:C4280725" ], "is_a": [ "HP:0031409" ], "is_obsolete": "", "replace_id": "" }, "HP:0030887": { "name": [ "increased lymphocyte apoptosis", "increase lymphocyte apoptosis" ], "alt_id": [], "def": "A elevation in the rate of apoptosis in lymphocytes.", "synonym": [], "xref": [ "UMLS:C4280724" ], "is_a": [ "HP:0030886" ], "is_obsolete": "", "replace_id": "" }, "HP:0030888": { "name": [ "c3 nephritic factor positivity", "c3 nephritic factor positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0030889": { "name": [ "congenital shortened small intestine", "congenital shorten small intestine" ], "alt_id": [], "def": "Substantially shortened length of the small intestine as a result of a developmental defect.", "synonym": [ [ "short bowel", "short bowel" ] ], "xref": [], "is_a": [ "HP:0002244" ], "is_obsolete": "", "replace_id": "" }, "HP:0030890": { "name": [ "hyperintensity of cerebral white matter on mri", "hyperintensity of cerebral white matter on mri" ], "alt_id": [], "def": "A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.", "synonym": [ [ "white matter hyperintensity", "white matter hyperintensity" ] ], "xref": [], "is_a": [ "HP:0002500" ], "is_obsolete": "", "replace_id": "" }, "HP:0030891": { "name": [ "periventricular white matter hyperintensities", "periventricular white matter hyperintensities" ], "alt_id": [], "def": "Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.", "synonym": [], "xref": [], "is_a": [ "HP:0002518", "HP:0030890" ], "is_obsolete": "", "replace_id": "" }, "HP:0030892": { "name": [ "deep cerebral white matter hyperintensities", "deep cerebral white matter hyperintensities" ], "alt_id": [], "def": "Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.", "synonym": [], "xref": [], "is_a": [ "HP:0030890" ], "is_obsolete": "", "replace_id": "" }, "HP:0030893": { "name": [ "abnormal response to short acting pulmonary vasodilator", "abnormal response to short act pulmonary vasodilator" ], "alt_id": [], "def": "Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg.", "synonym": [], "xref": [], "is_a": [ "HP:0030875" ], "is_obsolete": "", "replace_id": "" }, "HP:0030894": { "name": [ "insufficient response to short acting pulmonary vasodilator", "insufficient response to short act pulmonary vasodilator" ], "alt_id": [], "def": "No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide.", "synonym": [], "xref": [], "is_a": [ "HP:0030893" ], "is_obsolete": "", "replace_id": "" }, "HP:0030895": { "name": [ "abnormal gastrointestinal motility", "abnormal gastrointestinal motility" ], "alt_id": [], "def": "An anomaly of the muscular contractions that propel food though the gastrointestinal tract.", "synonym": [ [ "abnormal gi motility", "abnormal gi motility" ] ], "xref": [], "is_a": [ "HP:0012719" ], "is_obsolete": "", "replace_id": "" }, "HP:0030896": { "name": [ "abnormal gastrointestinal transit time", "abnormal gastrointestinal transit time" ], "alt_id": [], "def": "A deviation from the normal amount of time required for food to pass through the intestines.", "synonym": [ [ "abnormal gi transit time", "abnormal gi transit time" ] ], "xref": [], "is_a": [ "HP:0030895" ], "is_obsolete": "", "replace_id": "" }, "HP:0030897": { "name": [ "decreased intestinal transit time", "decrease intestinal transit time" ], "alt_id": [], "def": "A reduction in the length of time required for food to pass through the intestines.", "synonym": [], "xref": [], "is_a": [ "HP:0030896" ], "is_obsolete": "", "replace_id": "" }, "HP:0030898": { "name": [ "pruritis on abdomen", "pruritis on abdomen" ], "alt_id": [], "def": "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen.", "synonym": [], "xref": [], "is_a": [ "HP:0000989" ], "is_obsolete": "", "replace_id": "" }, "HP:0030899": { "name": [ "pruritis on hand", "pruritis on hand" ], "alt_id": [], "def": "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand.", "synonym": [], "xref": [], "is_a": [ "HP:0000989" ], "is_obsolete": "", "replace_id": "" }, "HP:0030900": { "name": [ "pruritus on foot", "pruritus on foot" ], "alt_id": [], "def": "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot.", "synonym": [ [ "itchy feet", "itchy foot" ], [ "itchy foot", "itchy foot" ] ], "xref": [], "is_a": [ "HP:0000989" ], "is_obsolete": "", "replace_id": "" }, "HP:0030901": { "name": [ "pruritis on breast", "pruritis on breast" ], "alt_id": [], "def": "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast.", "synonym": [], "xref": [], "is_a": [ "HP:0000989" ], "is_obsolete": "", "replace_id": "" }, "HP:0030902": { "name": [ "palmomental reflex", "palmomental reflex" ], "alt_id": [], "def": "A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm.", "synonym": [], "xref": [], "is_a": [ "HP:0002476" ], "is_obsolete": "", "replace_id": "" }, "HP:0030903": { "name": [ "grasp reflex", "grasp reflex" ], "alt_id": [], "def": "A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395].", "synonym": [ [ "palmar grasp reflex", "palmar grasp reflex" ] ], "xref": [], "is_a": [ "HP:0002476" ], "is_obsolete": "", "replace_id": "" }, "HP:0030904": { "name": [ "glabellar reflex", "glabellar reflex" ], "alt_id": [], "def": "A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign.", "synonym": [ [ "myerson 's sign", "myerson 's sign" ] ], "xref": [], "is_a": [ "HP:0002476" ], "is_obsolete": "", "replace_id": "" }, "HP:0030905": { "name": [ "snout reflex", "snout reflex" ], "alt_id": [], "def": "A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout.", "synonym": [], "xref": [], "is_a": [ "HP:0002476" ], "is_obsolete": "", "replace_id": "" }, "HP:0030906": { "name": [ "suck reflex", "suck reflex" ], "alt_id": [], "def": "A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched.", "synonym": [ [ "persistent nutritive suckle swallow", "persistent nutritive suckle swallow" ] ], "xref": [], "is_a": [ "HP:0002476" ], "is_obsolete": "", "replace_id": "" }, "HP:0030907": { "name": [ "thunderclap headache", "thunderclap headache" ], "alt_id": [], "def": "Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days.", "synonym": [], "xref": [], "is_a": [ "HP:0002315" ], "is_obsolete": "", "replace_id": "" }, "HP:0030908": { "name": [ "liver kidney microsome type 1 antibody positivity", "liver kidney microsome type 1 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2).", "synonym": [ [ "anti - lkm - 1 positive", "anti - lkm - 1 positive" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0030909": { "name": [ "anti - liver cytosolic antigen type 1 antibody positivity", "anti - liver cytosolic antigen type 1 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.", "synonym": [ [ "anti - liver cytosol antibody - 1 positivity", "anti - liver cytosol antibody - 1 positivity" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0030911": { "name": [ "bifid clitoris", "bifid clitoris" ], "alt_id": [], "def": "Two clitorides located side by side.", "synonym": [], "xref": [], "is_a": [ "HP:0000056" ], "is_obsolete": "", "replace_id": "" }, "HP:0030912": { "name": [ "duplicated clitoris", "duplicate clitoris" ], "alt_id": [], "def": "Supernumerary clitoris.", "synonym": [], "xref": [], "is_a": [ "HP:0000056" ], "is_obsolete": "", "replace_id": "" }, "HP:0030913": { "name": [ "exaggerated rugosity of the labia majora", "exaggerated rugosity of the labium majora" ], "alt_id": [], "def": "Marked rugae formation of the skin of the labia majora.", "synonym": [ [ "scrotum - like labia majora", "scrotum - like labium majora" ] ], "xref": [], "is_a": [ "HP:0012881" ], "is_obsolete": "", "replace_id": "" }, "HP:0030914": { "name": [ "abnormal peristalsis", "abnormal peristalsis" ], "alt_id": [], "def": "An anomaly of the wave-like muscle contractions of the digestive tract.", "synonym": [], "xref": [], "is_a": [ "HP:0002579" ], "is_obsolete": "", "replace_id": "" }, "HP:0030915": { "name": [ "cerebellar edema", "cerebellar edema" ], "alt_id": [], "def": "Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.", "synonym": [ [ "cerebellar oedema", "cerebellar oedema" ], [ "edema of the cerebellum", "edema of the cerebellum" ], [ "oedema of the cerebellum", "oedema of the cerebellum" ] ], "xref": [], "is_a": [ "HP:0001317" ], "is_obsolete": "", "replace_id": "" }, "HP:0030917": { "name": [ "low apgar score", "low apgar score" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0030918": { "name": [ "low 1 - minute apgar score", "low 1 - minute apgar score" ], "alt_id": [], "def": "", "synonym": [ [ "low one - minute apgar score", "low one - minute apgar score" ] ], "xref": [], "is_a": [ "HP:0030917" ], "is_obsolete": "", "replace_id": "" }, "HP:0030919": { "name": [ "low 5 - minute apgar score", "low 5 - minute apgar score" ], "alt_id": [], "def": "", "synonym": [ [ "low five - minute apgar score", "low five - minute apgar score" ] ], "xref": [], "is_a": [ "HP:0030917" ], "is_obsolete": "", "replace_id": "" }, "HP:0030920": { "name": [ "5 - minute apgar score of 0", "5 - minute apgar score of 0" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0030919" ], "is_obsolete": "", "replace_id": "" }, "HP:0030921": { "name": [ "5 - minute apgar score of 1", "5 - minute apgar score of 1" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0030919" ], "is_obsolete": "", "replace_id": "" }, "HP:0030922": { "name": [ "5 - minute apgar score of 2", "5 - minute apgar score of 2" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0030919" ], "is_obsolete": "", "replace_id": "" }, "HP:0030923": { "name": [ "5 - minute apgar score of 3", "5 - minute apgar score of 3" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0030919" ], "is_obsolete": "", "replace_id": "" }, "HP:0030924": { "name": [ "5 - minute apgar score of 4", "5 - minute apgar score of 4" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0030919" ], "is_obsolete": "", "replace_id": "" }, "HP:0030925": { "name": [ "5 - minute apgar score of 5", "5 - minute apgar score of 5" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0030919" ], "is_obsolete": "", "replace_id": "" }, "HP:0030926": { "name": [ "5 - minute apgar score of 6", "5 - minute apgar score of 6" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0030919" ], "is_obsolete": "", "replace_id": "" }, "HP:0030927": { "name": [ "1 - minute apgar score of 0", "1 - minute apgar score of 0" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0030918" ], "is_obsolete": "", "replace_id": "" }, "HP:0030928": { "name": [ "1 - minute apgar score of 1", "1 - minute apgar score of 1" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0030918" ], "is_obsolete": "", "replace_id": "" }, "HP:0030929": { "name": [ "1 - minute apgar score of 2", "1 - minute apgar score of 2" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0030918" ], "is_obsolete": "", "replace_id": "" }, "HP:0030930": { "name": [ "1 - minute apgar score of 3", "1 - minute apgar score of 3" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0030918" ], "is_obsolete": "", "replace_id": "" }, "HP:0030931": { "name": [ "1 - minute apgar score of 4", "1 - minute apgar score of 4" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0030918" ], "is_obsolete": "", "replace_id": "" }, "HP:0030932": { "name": [ "1 - minute apgar score of 5", "1 - minute apgar score of 5" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0030918" ], "is_obsolete": "", "replace_id": "" }, "HP:0030933": { "name": [ "1 - minute apgar score of 6", "1 - minute apgar score of 6" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0030918" ], "is_obsolete": "", "replace_id": "" }, "HP:0030934": { "name": [ "oral erythroplakia", "oral erythroplakia" ], "alt_id": [], "def": "A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed.", "synonym": [ [ "oral erythroplasia", "oral erythroplasia" ] ], "xref": [], "is_a": [ "HP:0011830" ], "is_obsolete": "", "replace_id": "" }, "HP:0030935": { "name": [ "abnormality of intestinal smooth muscle morphology", "abnormality of intestinal smooth muscle morphology" ], "alt_id": [], "def": "A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.", "synonym": [], "xref": [], "is_a": [ "HP:0002242" ], "is_obsolete": "", "replace_id": "" }, "HP:0030936": { "name": [ "abnormal layering of muscularis propria", "abnormal layering of muscularis propria" ], "alt_id": [], "def": "Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer.", "synonym": [ [ "muscularis propria malformation", "muscularis propria malformation" ], [ "segmental additional circular muscle coat", "segmental additional circular muscle coat" ] ], "xref": [], "is_a": [ "HP:0030935" ], "is_obsolete": "", "replace_id": "" }, "HP:0030937": { "name": [ "fibrotic muscularis propria", "fibrotic muscularis propria" ], "alt_id": [], "def": "The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process.", "synonym": [], "xref": [], "is_a": [ "HP:0030935" ], "is_obsolete": "", "replace_id": "" }, "HP:0030938": { "name": [ "enteric intraneuronal nuclear inclusion bodies", "enteric intraneuronal nuclear inclusion body" ], "alt_id": [], "def": "Aggregates of stainable substances (proteins) in the nuclei of enteric neurons.", "synonym": [], "xref": [], "is_a": [ "HP:0025029" ], "is_obsolete": "", "replace_id": "" }, "HP:0030939": { "name": [ "palpebral thickening", "palpebral thickening" ], "alt_id": [], "def": "An increased thickness of the eyelid not related to acute inflammation.", "synonym": [ [ "eyelid thickening", "eyelid thickening" ], [ "thick eyelids", "thick eyelid" ], [ "thickened but nonswollen eyelids", "thicken but nonswollen eyelid" ], [ "thickened eyelid", "thicken eyelid" ] ], "xref": [], "is_a": [ "HP:0000492" ], "is_obsolete": "", "replace_id": "" }, "HP:0030943": { "name": [ "vulvodynia", "vulvodynia" ], "alt_id": [], "def": "Pain in the vulvar area", "synonym": [ [ "vulvar pain", "vulvar pain" ] ], "xref": [], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0030946": { "name": [ "conjunctival papillae", "conjunctival papilla" ], "alt_id": [], "def": "Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells.", "synonym": [], "xref": [], "is_a": [ "HP:0000502" ], "is_obsolete": "", "replace_id": "" }, "HP:0030947": { "name": [ "conjunctival follicles", "conjunctival follicle" ], "alt_id": [], "def": "Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells.", "synonym": [], "xref": [], "is_a": [ "HP:0000502" ], "is_obsolete": "", "replace_id": "" }, "HP:0030948": { "name": [ "elevated gamma - glutamyltransferase level", "elevate gamma - glutamyltransferase level" ], "alt_id": [], "def": "Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.", "synonym": [ [ "elevated serum ggt", "elevate serum ggt" ] ], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0030949": { "name": [ "glomerular deposits", "glomerular deposit" ], "alt_id": [], "def": "An abnormal accumulation of protein in the glomerulus.", "synonym": [], "xref": [], "is_a": [ "HP:0000095" ], "is_obsolete": "", "replace_id": "" }, "HP:0030950": { "name": [ "pulmonary venous hypertension", "pulmonary venous hypertension" ], "alt_id": [], "def": "An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.", "synonym": [], "xref": [], "is_a": [ "HP:0030875" ], "is_obsolete": "", "replace_id": "" }, "HP:0030951": { "name": [ "skeletal muscle fibrosis", "skeletal muscle fibrosis" ], "alt_id": [], "def": "Excessive formation of fibrous bands of scar tissue in between muscle fibers.", "synonym": [], "xref": [], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0030952": { "name": [ "birdshot choroidal lesions", "birdshot choroidal lesion" ], "alt_id": [], "def": "Multiple cream-yellow colored hypopigmented choroidal anomalies whose size is approximately one quarter to one half of that of the optic disc, and whose location tends to cluster around the optic nerve radiating towards the periphery. The pattern of the lesions is said to be similar to gunshot spatter from birdshot.", "synonym": [], "xref": [], "is_a": [ "HP:0000610" ], "is_obsolete": "", "replace_id": "" }, "HP:0030953": { "name": [ "conjunctival hyperemia", "conjunctival hyperemia" ], "alt_id": [], "def": "Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.", "synonym": [ [ "conjunctival hyperaemia", "conjunctival hyperaemia" ], [ "conjunctival injection", "conjunctival injection" ], [ "conjunctival vascular congestion", "conjunctival vascular congestion" ] ], "xref": [], "is_a": [ "HP:0000502", "HP:0025337" ], "is_obsolete": "", "replace_id": "" }, "HP:0030955": { "name": [ "alcoholism", "alcoholism" ], "alt_id": [], "def": "An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol.", "synonym": [], "xref": [], "is_a": [ "HP:0030858" ], "is_obsolete": "", "replace_id": "" }, "HP:0030956": { "name": [ "abnormality of cardiovascular system electrophysiology", "abnormality of cardiovascular system electrophysiology" ], "alt_id": [], "def": "An anomaly of the electrical conduction physiology of the heart.", "synonym": [], "xref": [], "is_a": [ "HP:0011025" ], "is_obsolete": "", "replace_id": "" }, "HP:0030957": { "name": [ "ventricular septal aneurysm", "ventricular septal aneurysm" ], "alt_id": [], "def": "A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion.", "synonym": [ [ "ventricular septal dilatation", "ventricular septal dilatation" ] ], "xref": [], "is_a": [ "HP:0010438" ], "is_obsolete": "", "replace_id": "" }, "HP:0030958": { "name": [ "membranous ventricular septal aneurysm", "membranous ventricular septal aneurysm" ], "alt_id": [], "def": "Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).", "synonym": [ [ "aneurysm of the membranous ventricular septum", "aneurysm of the membranous ventricular septum" ], [ "interventricular septum membranous part aneurysm", "interventricular septum membranous part aneurysm" ] ], "xref": [ "Fyler:2346" ], "is_a": [ "HP:0030957" ], "is_obsolete": "", "replace_id": "" }, "HP:0030959": { "name": [ "muscular ventricular septal aneurysm", "muscular ventricular septal aneurysm" ], "alt_id": [], "def": "Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).", "synonym": [ [ "aneurysm of the muscular ventricular septum", "aneurysm of the muscular ventricular septum" ] ], "xref": [], "is_a": [ "HP:0030957" ], "is_obsolete": "", "replace_id": "" }, "HP:0030960": { "name": [ "obsolete abnormal pupillary morphology", "obsolete abnormal pupillary morphology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000615" }, "HP:0030961": { "name": [ "microspherophakia", "microspherophakia" ], "alt_id": [], "def": "Lens of the eye is smaller than normal and spherically shaped.", "synonym": [], "xref": [], "is_a": [ "HP:0008063" ], "is_obsolete": "", "replace_id": "" }, "HP:0030962": { "name": [ "abnormal morphology of the great vessels", "abnormal morphology of the great vessel" ], "alt_id": [], "def": "A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.", "synonym": [], "xref": [], "is_a": [ "HP:0033353" ], "is_obsolete": "", "replace_id": "" }, "HP:0030963": { "name": [ "obsolete abnormal aortic morphology", "obsolete abnormal aortic morphology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001679" }, "HP:0030964": { "name": [ "abnormal aortic physiology", "abnormal aortic physiology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0025323" ], "is_obsolete": "", "replace_id": "" }, "HP:0030965": { "name": [ "aortic stiffness", "aortic stiffness" ], "alt_id": [], "def": "The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension.", "synonym": [ [ "increased aortic stiffness", "increase aortic stiffness" ] ], "xref": [], "is_a": [ "HP:0030964" ], "is_obsolete": "", "replace_id": "" }, "HP:0030966": { "name": [ "abnormal pulmonary artery morphology", "abnormal pulmonary artery morphology" ], "alt_id": [], "def": "An abnormality of the structure of the pulmonary artery.", "synonym": [], "xref": [], "is_a": [ "HP:0004414", "HP:0030962" ], "is_obsolete": "", "replace_id": "" }, "HP:0030967": { "name": [ "abnormal pulmonary artery physiology", "abnormal pulmonary artery physiology" ], "alt_id": [], "def": "An abnormality of the function of the pulmonary artery.", "synonym": [], "xref": [], "is_a": [ "HP:0004414" ], "is_obsolete": "", "replace_id": "" }, "HP:0030968": { "name": [ "abnormal pulmonary vein morphology", "abnormal pulmonary vein morphology" ], "alt_id": [], "def": "An abnormality of the structure of the pulmonary veins.", "synonym": [], "xref": [ "Fyler:3000" ], "is_a": [ "HP:0011718", "HP:0030962" ], "is_obsolete": "", "replace_id": "" }, "HP:0030969": { "name": [ "abnormal pulmonary vein physiology", "abnormal pulmonary vein physiology" ], "alt_id": [], "def": "An abnormality of the function of the pulmonary veins.", "synonym": [], "xref": [], "is_a": [ "HP:0011718" ], "is_obsolete": "", "replace_id": "" }, "HP:0030970": { "name": [ "abnormal vena cava physiology", "abnormal vena cava physiology" ], "alt_id": [], "def": "An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.", "synonym": [], "xref": [], "is_a": [ "HP:0030846" ], "is_obsolete": "", "replace_id": "" }, "HP:0030971": { "name": [ "obsolete abnormal vena cava morphology", "obsolete abnormal vena cava morphology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0005345" }, "HP:0030972": { "name": [ "abnormal systemic blood pressure", "abnormal systemic blood pressure" ], "alt_id": [], "def": "A chronic deviation from normal pressure in the systemic arterial system.", "synonym": [ [ "abnormal systemic bp", "abnormal systemic bp" ] ], "xref": [], "is_a": [ "HP:0011025" ], "is_obsolete": "", "replace_id": "" }, "HP:0030973": { "name": [ "postexertional malaise", "postexertional malaise" ], "alt_id": [], "def": "A subjective feeling of tiredness characterized by a lack of energy and motivation and that is induced by exertion or exercise.", "synonym": [ [ "exercise - induced fatigue", "exercise - induced fatigue" ], [ "exercise - induced malaise", "exercise - induced malaise" ], [ "postexertional fatigue", "postexertional fatigue" ] ], "xref": [], "is_a": [ "HP:0012378" ], "is_obsolete": "", "replace_id": "" }, "HP:0030974": { "name": [ "cryptozoospermia", "cryptozoospermia" ], "alt_id": [], "def": "A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out).", "synonym": [ [ "cryptospermia", "cryptospermia" ] ], "xref": [], "is_a": [ "HP:0000798" ], "is_obsolete": "", "replace_id": "" }, "HP:0030975": { "name": [ "pontine tegmental cap", "pontine tegmental cap" ], "alt_id": [], "def": "An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.", "synonym": [ [ "vaulted pontine tegmentum", "vault pontine tegmentum" ] ], "xref": [], "is_a": [ "HP:0007361" ], "is_obsolete": "", "replace_id": "" }, "HP:0030976": { "name": [ "abnormal factor viii activity", "abnormal factor viii activity" ], "alt_id": [], "def": "A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.", "synonym": [], "xref": [], "is_a": [ "HP:0010989" ], "is_obsolete": "", "replace_id": "" }, "HP:0030977": { "name": [ "increased factor viii activity", "increase factor viii activity" ], "alt_id": [], "def": "Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.", "synonym": [], "xref": [], "is_a": [ "HP:0030976" ], "is_obsolete": "", "replace_id": "" }, "HP:0030978": { "name": [ "decreased csf / serum albumin ratio", "decrease csf / serum albumin ratio" ], "alt_id": [], "def": "A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.", "synonym": [], "xref": [], "is_a": [ "HP:0030981" ], "is_obsolete": "", "replace_id": "" }, "HP:0030979": { "name": [ "dilatation of large choroidal vessels", "dilatation of large choroidal vessel" ], "alt_id": [], "def": "Enlargement of the large blood vessels in the choroid.", "synonym": [ [ "dilated choroidal vessels", "dilate choroidal vessel" ] ], "xref": [], "is_a": [ "HP:0025568" ], "is_obsolete": "", "replace_id": "" }, "HP:0030980": { "name": [ "reduced brain glutamine level by mrs", "reduce brain glutamine level by mr" ], "alt_id": [], "def": "An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).", "synonym": [], "xref": [], "is_a": [ "HP:0012705" ], "is_obsolete": "", "replace_id": "" }, "HP:0030981": { "name": [ "abnormal csf / serum albumin ratio", "abnormal csf / serum albumin ratio" ], "alt_id": [], "def": "A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.", "synonym": [], "xref": [], "is_a": [ "HP:0002921" ], "is_obsolete": "", "replace_id": "" }, "HP:0030983": { "name": [ "ovarian thecoma", "ovarian thecoma" ], "alt_id": [], "def": "A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types.", "synonym": [], "xref": [], "is_a": [ "HP:0031918" ], "is_obsolete": "", "replace_id": "" }, "HP:0030984": { "name": [ "abnormal serum bile acid concentration", "abnormal serum bile acid concentration" ], "alt_id": [], "def": "A deviation from the normal concentration of serum bile acid concentration.", "synonym": [], "xref": [], "is_a": [ "HP:0010996" ], "is_obsolete": "", "replace_id": "" }, "HP:0030985": { "name": [ "decreased serum bile concentration", "decrease serum bile concentration" ], "alt_id": [], "def": "A reduction in the concentration of bile acid in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0030984" ], "is_obsolete": "", "replace_id": "" }, "HP:0030986": { "name": [ "biliary epithelial hyperplasia", "biliary epithelial hyperplasia" ], "alt_id": [], "def": "Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen.", "synonym": [], "xref": [], "is_a": [ "HP:0012440" ], "is_obsolete": "", "replace_id": "" }, "HP:0030987": { "name": [ "suppurative cholangitis", "suppurative cholangitis" ], "alt_id": [], "def": "Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess).", "synonym": [], "xref": [], "is_a": [ "HP:0030151" ], "is_obsolete": "", "replace_id": "" }, "HP:0030988": { "name": [ "granulomatous cholangitis", "granulomatous cholangitis" ], "alt_id": [], "def": "Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts.", "synonym": [], "xref": [], "is_a": [ "HP:0030151" ], "is_obsolete": "", "replace_id": "" }, "HP:0030989": { "name": [ "lymphoid cholangitis", "lymphoid cholangitis" ], "alt_id": [], "def": "Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement.", "synonym": [], "xref": [], "is_a": [ "HP:0030151" ], "is_obsolete": "", "replace_id": "" }, "HP:0030990": { "name": [ "pleomorphic cholangitis", "pleomorphic cholangitis" ], "alt_id": [], "def": "Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree.", "synonym": [], "xref": [], "is_a": [ "HP:0030151" ], "is_obsolete": "", "replace_id": "" }, "HP:0030991": { "name": [ "sclerosing cholangitis", "sclerosing cholangitis" ], "alt_id": [], "def": "Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.", "synonym": [ [ "fibrous cholangitis", "fibrous cholangitis" ] ], "xref": [], "is_a": [ "HP:0030151" ], "is_obsolete": "", "replace_id": "" }, "HP:0030992": { "name": [ "abnormal pancreatic duct morphology", "abnormal pancreatic duct morphology" ], "alt_id": [], "def": "Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum.", "synonym": [], "xref": [], "is_a": [ "HP:0012090" ], "is_obsolete": "", "replace_id": "" }, "HP:0030993": { "name": [ "duplication of pancreatic duct", "duplication of pancreatic duct" ], "alt_id": [], "def": "A congenital anomaly characterized by the presence of two separate pancreatic ducts.", "synonym": [ [ "duplicated pancreatic duct", "duplicate pancreatic duct" ] ], "xref": [], "is_a": [ "HP:0030992" ], "is_obsolete": "", "replace_id": "" }, "HP:0030994": { "name": [ "pancreas divisum", "pancreas divisum" ], "alt_id": [], "def": "A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present.", "synonym": [], "xref": [], "is_a": [ "HP:0012090" ], "is_obsolete": "", "replace_id": "" }, "HP:0030995": { "name": [ "peritoneal effusion", "peritoneal effusion" ], "alt_id": [], "def": "An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).", "synonym": [], "xref": [], "is_a": [ "HP:0002585" ], "is_obsolete": "", "replace_id": "" }, "HP:0030996": { "name": [ "megaduodenum", "megaduodenum" ], "alt_id": [], "def": "Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.", "synonym": [], "xref": [], "is_a": [ "HP:0002246" ], "is_obsolete": "", "replace_id": "" }, "HP:0030997": { "name": [ "atretic vas deferens", "atretic va deferens" ], "alt_id": [], "def": "Abnormal closure or blockage of the vas deferens.", "synonym": [ [ "atresia of the vas deferens", "atresia of the va deferens" ], [ "vas deferens atresia", "va deferens atresia" ] ], "xref": [], "is_a": [ "HP:0012872" ], "is_obsolete": "", "replace_id": "" }, "HP:0030998": { "name": [ "cerebrospinal fluid rhinorrhoea", "cerebrospinal fluid rhinorrhoea" ], "alt_id": [], "def": "Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose.", "synonym": [ [ "csf rhinorrhoea", "csf rhinorrhoea" ] ], "xref": [], "is_a": [ "HP:0002921" ], "is_obsolete": "", "replace_id": "" }, "HP:0030999": { "name": [ "abnormal vestibular saccule morphology", "abnormal vestibular saccule morphology" ], "alt_id": [], "def": "Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement).", "synonym": [], "xref": [], "is_a": [ "HP:0011376" ], "is_obsolete": "", "replace_id": "" }, "HP:0031000": { "name": [ "vestibular saccular degeneration", "vestibular saccular degeneration" ], "alt_id": [], "def": "Deterioration or loss of the tissues of the saccule of the vestibule.", "synonym": [], "xref": [], "is_a": [ "HP:0030999" ], "is_obsolete": "", "replace_id": "" }, "HP:0031001": { "name": [ "minifascicle formation", "minifascicle formation" ], "alt_id": [], "def": "A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle.", "synonym": [], "xref": [], "is_a": [ "HP:0000759" ], "is_obsolete": "", "replace_id": "" }, "HP:0031002": { "name": [ "neuritis", "neuritis" ], "alt_id": [], "def": "Inflammation of a nerve.", "synonym": [], "xref": [], "is_a": [ "HP:0000759" ], "is_obsolete": "", "replace_id": "" }, "HP:0031003": { "name": [ "polyneuritis", "polyneuritis" ], "alt_id": [], "def": "Simulataneous inflammation of multiple nerves.", "synonym": [ [ "multiple neuritis", "multiple neuritis" ] ], "xref": [], "is_a": [ "HP:0031002" ], "is_obsolete": "", "replace_id": "" }, "HP:0031004": { "name": [ "hemiareflexia", "hemiareflexia" ], "alt_id": [], "def": "Areflexia that is limited to one side of the body.", "synonym": [], "xref": [], "is_a": [ "HP:0001284" ], "is_obsolete": "", "replace_id": "" }, "HP:0031005": { "name": [ "obsolete hyperalgesia", "obsolete hyperalgesia" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0012534" }, "HP:0031006": { "name": [ "acroparesthesia", "acroparesthesia" ], "alt_id": [], "def": "A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.", "synonym": [], "xref": [], "is_a": [ "HP:0003401" ], "is_obsolete": "", "replace_id": "" }, "HP:0031007": { "name": [ "orofacial action - specific dystonia induced by speech", "orofacial action - specific dystonia induce by speech" ], "alt_id": [], "def": "", "synonym": [ [ "jaw dystonia induced by speaking", "jaw dystonia induce by speak" ] ], "xref": [], "is_a": [ "HP:0012179" ], "is_obsolete": "", "replace_id": "" }, "HP:0031008": { "name": [ "lingual dystonia", "lingual dystonia" ], "alt_id": [], "def": "Involuntary protrusions, movements, spams and contortions of the tongue.", "synonym": [ [ "tongue dystonia", "tongue dystonia" ] ], "xref": [], "is_a": [ "HP:0012179" ], "is_obsolete": "", "replace_id": "" }, "HP:0031009": { "name": [ "ainhum", "ainhum" ], "alt_id": [], "def": "Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation.", "synonym": [ [ "dactylolysis spontanea", "dactylolysis spontanea" ] ], "xref": [], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0031010": { "name": [ "hyperphalangy of the 3rd finger", "hyperphalangy of the 3rd finger" ], "alt_id": [], "def": "An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint.", "synonym": [ [ "hyperphalangy of third finger", "hyperphalangy of third finger" ] ], "xref": [], "is_a": [ "HP:0030367" ], "is_obsolete": "", "replace_id": "" }, "HP:0031011": { "name": [ "fatty streak", "fatty streak" ], "alt_id": [], "def": "Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV.", "synonym": [ [ "sudanophilic lesion", "sudanophilic lesion" ] ], "xref": [], "is_a": [ "HP:0002621" ], "is_obsolete": "", "replace_id": "" }, "HP:0031012": { "name": [ "thin - cap fibroatheroma", "thin - cap fibroatheroma" ], "alt_id": [], "def": "Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring <65 \u00b5m typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis.", "synonym": [], "xref": [], "is_a": [ "HP:0002621" ], "is_obsolete": "", "replace_id": "" }, "HP:0031013": { "name": [ "ankylosis", "ankylosis" ], "alt_id": [], "def": "A reduction of joint mobility resulting from changes involving the articular surfaces.", "synonym": [], "xref": [], "is_a": [ "HP:0001376" ], "is_obsolete": "", "replace_id": "" }, "HP:0031014": { "name": [ "arteria lusoria", "arteria lusoria" ], "alt_id": [], "def": "Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria.", "synonym": [ [ "aberrant right subclavian artery", "aberrant right subclavian artery" ], [ "lusorian artery", "lusorian artery" ] ], "xref": [], "is_a": [ "HP:0031251" ], "is_obsolete": "", "replace_id": "" }, "HP:0031015": { "name": [ "intrahepatic portal vein sclerosis", "intrahepatic portal vein sclerosis" ], "alt_id": [], "def": "Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices.", "synonym": [ [ "idiopathic non - cirrhotic portal hypertension", "idiopathic non - cirrhotic portal hypertension" ], [ "incomplete septal cirrhosis", "incomplete septal cirrhosis" ], [ "non cirrhotic portal fibrosis", "non cirrhotic portal fibrosis" ], [ "obliterative portal venopathy", "obliterative portal venopathy" ] ], "xref": [], "is_a": [ "HP:0031941" ], "is_obsolete": "", "replace_id": "" }, "HP:0031016": { "name": [ "alternating radiolucent and radiodense metaphyseal lines", "alternate radiolucent and radiodense metaphyseal line" ], "alt_id": [], "def": "Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra.", "synonym": [ [ "zebra stripe sign", "zebra stripe sign" ] ], "xref": [], "is_a": [ "HP:0000944" ], "is_obsolete": "", "replace_id": "" }, "HP:0031017": { "name": [ "swiss cheese atrial septal defect", "swiss cheese atrial septal defect" ], "alt_id": [], "def": "Multiple defects in the atrial septum.", "synonym": [], "xref": [], "is_a": [ "HP:0001631" ], "is_obsolete": "", "replace_id": "" }, "HP:0031018": { "name": [ "eccrine syringofibroadenoma", "eccrine syringofibroadenoma" ], "alt_id": [], "def": "Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA).", "synonym": [ [ "acrosyringeal adenomatosis", "acrosyringeal adenomatosis" ], [ "eccrine syringofibroadenomatous hyperplasia", "eccrine syringofibroadenomatous hyperplasia" ], [ "syringofibroadenoma", "syringofibroadenoma" ] ], "xref": [], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0031019": { "name": [ "pyknotic bone marrow neutrophils", "pyknotic bone marrow neutrophil" ], "alt_id": [], "def": "Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments.", "synonym": [], "xref": [], "is_a": [ "HP:0011992" ], "is_obsolete": "", "replace_id": "" }, "HP:0031020": { "name": [ "bone marrow hypercellularity", "bone marrow hypercellularity" ], "alt_id": [], "def": "A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.", "synonym": [], "xref": [], "is_a": [ "HP:0012145" ], "is_obsolete": "", "replace_id": "" }, "HP:0031021": { "name": [ "squamous papilloma", "squamous papilloma" ], "alt_id": [], "def": "A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus].", "synonym": [], "xref": [ "NCIT:C3712" ], "is_a": [ "HP:0012740" ], "is_obsolete": "", "replace_id": "" }, "HP:0031022": { "name": [ "oropharyngeal squamous papilloma", "oropharyngeal squamous papilloma" ], "alt_id": [], "def": "A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus].", "synonym": [ [ "squamous papilloma of the uvula", "squamous papilloma of the uvula" ] ], "xref": [ "NCIT:C6038" ], "is_a": [ "HP:0031021" ], "is_obsolete": "", "replace_id": "" }, "HP:0031023": { "name": [ "multiple mucosal neuromas", "multiple mucosal neuroma" ], "alt_id": [], "def": "Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath.", "synonym": [], "xref": [ "NCIT:C6559" ], "is_a": [ "HP:0030430" ], "is_obsolete": "", "replace_id": "" }, "HP:0031024": { "name": [ "cylindroma", "cylindroma" ], "alt_id": [], "def": "A benign skin adnexal tumor of eccrine differentiation.", "synonym": [], "xref": [], "is_a": [ "HP:0012842" ], "is_obsolete": "", "replace_id": "" }, "HP:0031025": { "name": [ "gastric leiomyosarcoma", "gastric leiomyosarcoma" ], "alt_id": [], "def": "A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible.", "synonym": [], "xref": [], "is_a": [ "HP:0006753" ], "is_obsolete": "", "replace_id": "" }, "HP:0031026": { "name": [ "snail - like ilia", "snail - like ilium" ], "alt_id": [], "def": "The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature.", "synonym": [ [ "schneckenbecken dysplasia", "schneckenbecken dysplasia" ], [ "snail - like pelvis", "snail - like pelvis" ], [ "snail - shaped ilia", "snail - shape ilia" ] ], "xref": [], "is_a": [ "HP:0002867" ], "is_obsolete": "", "replace_id": "" }, "HP:0031027": { "name": [ "internal notch of the femoral head", "internal notch of the femoral head" ], "alt_id": [], "def": "A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546.", "synonym": [], "xref": [], "is_a": [ "HP:0003368" ], "is_obsolete": "", "replace_id": "" }, "HP:0031028": { "name": [ "lactescent serum", "lactescent serum" ], "alt_id": [], "def": "Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.", "synonym": [ [ "milk - like serum", "milk - like serum" ], [ "plasma lactescence", "plasma lactescence" ] ], "xref": [], "is_a": [ "HP:0002155" ], "is_obsolete": "", "replace_id": "" }, "HP:0031029": { "name": [ "elevated carcinoembryonic antigen level", "elevate carcinoembryonic antigen level" ], "alt_id": [], "def": "An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker.", "synonym": [ [ "increased plasma cea", "increase plasma cea" ] ], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0031030": { "name": [ "elevated carcinoma antigen 125 level", "elevate carcinoma antigen 125 level" ], "alt_id": [], "def": "An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer.", "synonym": [ [ "increased plasma ca125", "increase plasma ca125" ] ], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0031031": { "name": [ "abnormal retinol - binding protein level", "abnormal retinol - binding protein level" ], "alt_id": [], "def": "A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0031032": { "name": [ "decreased retinol - binding protein level", "decrease retinol - bind protein level" ], "alt_id": [], "def": "A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity.", "synonym": [], "xref": [], "is_a": [ "HP:0031031" ], "is_obsolete": "", "replace_id": "" }, "HP:0031033": { "name": [ "impaired urinary acidification", "impaired urinary acidification" ], "alt_id": [], "def": "The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect.", "synonym": [ [ "renal acidification defect", "renal acidification defect" ] ], "xref": [], "is_a": [ "HP:0012211" ], "is_obsolete": "", "replace_id": "" }, "HP:0031034": { "name": [ "abnormal insulin like growth factor binding protein acid labile subunit level", "abnormal insulin like growth factor bind protein acid labile subunit level" ], "alt_id": [], "def": "A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0031035": { "name": [ "chronic infection", "chronic infection" ], "alt_id": [], "def": "Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.", "synonym": [], "xref": [], "is_a": [ "HP:0032101" ], "is_obsolete": "", "replace_id": "" }, "HP:0031036": { "name": [ "reduced growth - hormone binding protein level", "reduce growth - hormone bind protein level" ], "alt_id": [], "def": "A decreased blood concentration of growth hormone binding protein.", "synonym": [ [ "decreased plasma gh - binding protein", "decrease plasma gh - binding protein" ] ], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0031037": { "name": [ "reduced insulin - like factor 3 level", "reduce insulin - like factor 3 level" ], "alt_id": [], "def": "Blood concentration of insulin-like factor 3 (ILF3) is below normal limits.", "synonym": [ [ "reduced plasma insl3 level", "reduce plasma insl3 level" ] ], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0031038": { "name": [ "spermatogenesis maturation arrest", "spermatogenesis maturation arrest" ], "alt_id": [], "def": "Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.", "synonym": [ [ "meiotic maturation arrest of spermatogenesis", "meiotic maturation arrest of spermatogenesis" ] ], "xref": [], "is_a": [ "HP:0008669" ], "is_obsolete": "", "replace_id": "" }, "HP:0031039": { "name": [ "early spermatogenesis maturation arrest", "early spermatogenesis maturation arrest" ], "alt_id": [], "def": "A type of maturation arrest in which only spermatogonia or spermatocytes are found.", "synonym": [], "xref": [], "is_a": [ "HP:0031038" ], "is_obsolete": "", "replace_id": "" }, "HP:0031040": { "name": [ "late spermatogenesis maturation arrest", "late spermatogenesis maturation arrest" ], "alt_id": [], "def": "A type of maturation arrest in which spermatids are detected without spermatozoa.", "synonym": [ [ "maturation arrest of spermatogenesis at spermatid stage", "maturation arrest of spermatogenesis at spermatid stage" ] ], "xref": [], "is_a": [ "HP:0031038" ], "is_obsolete": "", "replace_id": "" }, "HP:0031041": { "name": [ "obstruction of the superior vena cava", "obstruction of the superior vena cava" ], "alt_id": [], "def": "Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction.", "synonym": [ [ "superior vena cava obstruction", "superior vena cava obstruction" ], [ "superior vena cava syndrome", "superior vena cava syndrome" ] ], "xref": [], "is_a": [ "HP:0025575" ], "is_obsolete": "", "replace_id": "" }, "HP:0031042": { "name": [ "strawberry tongue", "strawberry tongue" ], "alt_id": [], "def": "Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry.", "synonym": [ [ "raspberry tongue", "raspberry tongue" ] ], "xref": [], "is_a": [ "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0031043": { "name": [ "type a4 brachydactyly", "type a4 brachydactyly" ], "alt_id": [], "def": "A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits.", "synonym": [], "xref": [], "is_a": [ "HP:0009370" ], "is_obsolete": "", "replace_id": "" }, "HP:0031044": { "name": [ "type a5 brachydactyly", "type a5 brachydactyly" ], "alt_id": [], "def": "A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5.", "synonym": [], "xref": [], "is_a": [ "HP:0009370" ], "is_obsolete": "", "replace_id": "" }, "HP:0031045": { "name": [ "acral blistering", "acral blistering" ], "alt_id": [], "def": "Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).", "synonym": [], "xref": [], "is_a": [ "HP:0033800" ], "is_obsolete": "", "replace_id": "" }, "HP:0031046": { "name": [ "absent soft palate", "absent soft palate" ], "alt_id": [], "def": "A developmental defect characterized by lack of a soft palate.", "synonym": [ [ "agenesis of the soft palate", "agenesis of the soft palate" ] ], "xref": [], "is_a": [ "HP:0100736" ], "is_obsolete": "", "replace_id": "" }, "HP:0031047": { "name": [ "paraproteinemia", "paraproteinemia" ], "alt_id": [], "def": "An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells.", "synonym": [ [ "monoclonal hypergammaglobulinemia", "monoclonal hypergammaglobulinemia" ] ], "xref": [], "is_a": [ "HP:0010702" ], "is_obsolete": "", "replace_id": "" }, "HP:0031048": { "name": [ "light - chain paraproteinemia", "light - chain paraproteinemia" ], "alt_id": [], "def": "An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.", "synonym": [], "xref": [], "is_a": [ "HP:0031047" ], "is_obsolete": "", "replace_id": "" }, "HP:0031049": { "name": [ "heavy - chain paraproteinemia", "heavy - chain paraproteinemia" ], "alt_id": [], "def": "An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.", "synonym": [], "xref": [], "is_a": [ "HP:0031047" ], "is_obsolete": "", "replace_id": "" }, "HP:0031050": { "name": [ "whole - immunoglobulin paraproteinemia", "whole - immunoglobulin paraproteinemia" ], "alt_id": [], "def": "An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells.", "synonym": [], "xref": [], "is_a": [ "HP:0031047" ], "is_obsolete": "", "replace_id": "" }, "HP:0031051": { "name": [ "tarsal sclerosis", "tarsal sclerosis" ], "alt_id": [], "def": "An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [], "xref": [], "is_a": [ "HP:0009132", "HP:0100925" ], "is_obsolete": "", "replace_id": "" }, "HP:0031052": { "name": [ "elevated vascular endothelial growth factor level", "elevate vascular endothelial growth factor level" ], "alt_id": [], "def": "Increased blood concentration of vascular endothelial growth factor (VEGF).", "synonym": [], "xref": [], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0031053": { "name": [ "coarctation in the transverse aortic arch", "coarctation in the transverse aortic arch" ], "alt_id": [], "def": "Narrowing or constriction of the aorta localized to the region of the transverse aortic arch.", "synonym": [], "xref": [], "is_a": [ "HP:0001680" ], "is_obsolete": "", "replace_id": "" }, "HP:0031054": { "name": [ "long segment coarctation of the aorta", "long segment coarctation of the aorta" ], "alt_id": [], "def": "Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta.", "synonym": [], "xref": [], "is_a": [ "HP:0001680" ], "is_obsolete": "", "replace_id": "" }, "HP:0031055": { "name": [ "abnormal branching pattern of left aortic arch", "abnormal branch pattern of left aortic arch" ], "alt_id": [], "def": "A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch).", "synonym": [], "xref": [], "is_a": [ "HP:0011587" ], "is_obsolete": "", "replace_id": "" }, "HP:0031056": { "name": [ "fusiform cerebral aneurysm", "fusiform cerebral aneurysm" ], "alt_id": [], "def": "A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.", "synonym": [ [ "intracranial fusiform aneurysm", "intracranial fusiform aneurysm" ] ], "xref": [], "is_a": [ "HP:0004944" ], "is_obsolete": "", "replace_id": "" }, "HP:0031057": { "name": [ "skin fissure", "skin fissure" ], "alt_id": [], "def": "A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.", "synonym": [ [ "cracked skin", "crack skin" ] ], "xref": [], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0031058": { "name": [ "impairment of activities of daily living", "impairment of activity of daily living" ], "alt_id": [], "def": "Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.", "synonym": [], "xref": [], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0031059": { "name": [ "impaired ability to bathe oneself", "impaired ability to bathe oneself" ], "alt_id": [], "def": "This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing.", "synonym": [], "xref": [], "is_a": [ "HP:0031058" ], "is_obsolete": "", "replace_id": "" }, "HP:0031060": { "name": [ "impaired ability to dress oneself", "impaired ability to dress oneself" ], "alt_id": [], "def": "This applies to an individual who needs help with dressing or needs to be completely dressed.", "synonym": [], "xref": [], "is_a": [ "HP:0031058" ], "is_obsolete": "", "replace_id": "" }, "HP:0031061": { "name": [ "impaired toileting ability", "impaired toileting ability" ], "alt_id": [], "def": "This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode.", "synonym": [], "xref": [], "is_a": [ "HP:0031058" ], "is_obsolete": "", "replace_id": "" }, "HP:0031062": { "name": [ "impaired transferring ability", "impaired transferring ability" ], "alt_id": [], "def": "Applies to an individual who needs help in moving from bed to chair or requires a complete transfer.", "synonym": [], "xref": [], "is_a": [ "HP:0031058" ], "is_obsolete": "", "replace_id": "" }, "HP:0031063": { "name": [ "impaired feeding ability", "impaired feeding ability" ], "alt_id": [], "def": "Applies to an individual who needs partial or total help with feeding or requires parenteral feeding.", "synonym": [], "xref": [], "is_a": [ "HP:0031058" ], "is_obsolete": "", "replace_id": "" }, "HP:0031064": { "name": [ "impaired continence", "impaired continence" ], "alt_id": [], "def": "Partial or total incontinence of bowel or bladder.", "synonym": [], "xref": [], "is_a": [ "HP:0031058" ], "is_obsolete": "", "replace_id": "" }, "HP:0031065": { "name": [ "abnormal ovarian morphology", "abnormal ovarian morphology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0000137" ], "is_obsolete": "", "replace_id": "" }, "HP:0031066": { "name": [ "abnormal ovarian physiology", "abnormal ovarian physiology" ], "alt_id": [], "def": "Any anomaly of ovarian function.", "synonym": [], "xref": [], "is_a": [ "HP:0000137", "HP:0030012" ], "is_obsolete": "", "replace_id": "" }, "HP:0031067": { "name": [ "empty ovarian follicle", "empty ovarian follicle" ], "alt_id": [], "def": "A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.", "synonym": [ [ "empty follicle syndrome", "empty follicle syndrome" ] ], "xref": [], "is_a": [ "HP:0031066" ], "is_obsolete": "", "replace_id": "" }, "HP:0031068": { "name": [ "increased femoral torsion", "increase femoral torsion" ], "alt_id": [], "def": "Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion exceeds this range.", "synonym": [], "xref": [], "is_a": [ "HP:0031069" ], "is_obsolete": "", "replace_id": "" }, "HP:0031069": { "name": [ "abnormal femoral torsion", "abnormal femoral torsion" ], "alt_id": [], "def": "Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range.", "synonym": [], "xref": [], "is_a": [ "HP:0002823" ], "is_obsolete": "", "replace_id": "" }, "HP:0031070": { "name": [ "decreased femoral torsion", "decreased femoral torsion" ], "alt_id": [], "def": "Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range.", "synonym": [], "xref": [], "is_a": [ "HP:0031069" ], "is_obsolete": "", "replace_id": "" }, "HP:0031071": { "name": [ "abnormal endocrine morphology", "abnormal endocrine morphology" ], "alt_id": [], "def": "Any anomaly of the structure of an organ ofthe endocrine system.", "synonym": [], "xref": [], "is_a": [ "HP:0000818" ], "is_obsolete": "", "replace_id": "" }, "HP:0031072": { "name": [ "abnormal endocrine physiology", "abnormal endocrine physiology" ], "alt_id": [], "def": "Any anomaly of the function of the endocrine system.", "synonym": [], "xref": [], "is_a": [ "HP:0000818" ], "is_obsolete": "", "replace_id": "" }, "HP:0031073": { "name": [ "abnormal response to endocrine stimulation test", "abnormal response to endocrine stimulation test" ], "alt_id": [], "def": "An anomalous response to a test that is designed to probe the function of the endocrine system.", "synonym": [], "xref": [], "is_a": [ "HP:0031072" ], "is_obsolete": "", "replace_id": "" }, "HP:0031074": { "name": [ "abnormal response to acth stimulation test", "abnormal response to acth stimulation test" ], "alt_id": [], "def": "An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.", "synonym": [ [ "abnormal response to adrenocorticotropic - hormone stimulation test", "abnormal response to adrenocorticotropic - hormone stimulation test" ], [ "abnormal response to corticotropin stimulation test", "abnormal response to corticotropin stimulation test" ] ], "xref": [], "is_a": [ "HP:0031073" ], "is_obsolete": "", "replace_id": "" }, "HP:0031075": { "name": [ "abnormal response to insulin tolerance test", "abnormal response to insulin tolerance test" ], "alt_id": [], "def": "An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level.", "synonym": [], "xref": [], "is_a": [ "HP:0031073" ], "is_obsolete": "", "replace_id": "" }, "HP:0031076": { "name": [ "impaired cortisol response to insulin stimulation test", "impaired cortisol response to insulin stimulation test" ], "alt_id": [], "def": "Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).", "synonym": [], "xref": [], "is_a": [ "HP:0031075" ], "is_obsolete": "", "replace_id": "" }, "HP:0031077": { "name": [ "abnormal response to corticotropin releasing hormone stimulation test", "abnormal response to corticotropin release hormone stimulation test" ], "alt_id": [], "def": "An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.", "synonym": [ [ "abnormal response to crh stimulation test", "abnormal response to crh stimulation test" ] ], "xref": [], "is_a": [ "HP:0031073" ], "is_obsolete": "", "replace_id": "" }, "HP:0031078": { "name": [ "impaired cortisol response to corticotropin releasing hormone stimulation test", "impaired cortisol response to corticotropin release hormone stimulation test" ], "alt_id": [], "def": "Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test.", "synonym": [], "xref": [], "is_a": [ "HP:0031077" ], "is_obsolete": "", "replace_id": "" }, "HP:0031079": { "name": [ "impaired growth - hormone response to insulin stimulation test", "impaired growth - hormone response to insulin stimulation test" ], "alt_id": [], "def": "Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).", "synonym": [], "xref": [], "is_a": [ "HP:0031075" ], "is_obsolete": "", "replace_id": "" }, "HP:0031080": { "name": [ "abnormal response to glucagon stimulation test", "abnormal response to glucagon stimulation test" ], "alt_id": [], "def": "An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH).", "synonym": [], "xref": [], "is_a": [ "HP:0031072" ], "is_obsolete": "", "replace_id": "" }, "HP:0031081": { "name": [ "impaired cortisol response to glucagon stimulation test", "impaired cortisol response to glucagon stimulation test" ], "alt_id": [], "def": "Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test.", "synonym": [], "xref": [], "is_a": [ "HP:0031080" ], "is_obsolete": "", "replace_id": "" }, "HP:0031082": { "name": [ "impaired growth - hormone response to glucagon stimulation test", "impaired growth - hormone response to glucagon stimulation test" ], "alt_id": [], "def": "Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test.", "synonym": [], "xref": [], "is_a": [ "HP:0031080" ], "is_obsolete": "", "replace_id": "" }, "HP:0031083": { "name": [ "abnormal response to human chorionic gonadotrophin stimulation test", "abnormal response to human chorionic gonadotrophin stimulation test" ], "alt_id": [], "def": "An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors.", "synonym": [ [ "abnormal response to hcg stimulation test", "abnormal response to hcg stimulation test" ] ], "xref": [], "is_a": [ "HP:0031072" ], "is_obsolete": "", "replace_id": "" }, "HP:0031084": { "name": [ "excessive insulin response to glucagon test", "excessive insulin response to glucagon test" ], "alt_id": [], "def": "An abnormally high increase in insulin levels following a glucagon stimulation test.", "synonym": [], "xref": [], "is_a": [ "HP:0031080" ], "is_obsolete": "", "replace_id": "" }, "HP:0031085": { "name": [ "decreased prealbumin level", "decrease prealbumin level" ], "alt_id": [], "def": "A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0031086": { "name": [ "ectopic ovary", "ectopic ovary" ], "alt_id": [], "def": "Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels.", "synonym": [ [ "undescended ovary", "undescended ovary" ] ], "xref": [], "is_a": [ "HP:0031065" ], "is_obsolete": "", "replace_id": "" }, "HP:0031087": { "name": [ "absent pubertal growth spurt", "absent pubertal growth spurt" ], "alt_id": [], "def": "The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.", "synonym": [ [ "absent adolescent growth spurt", "absent adolescent growth spurt" ] ], "xref": [], "is_a": [ "HP:0001510" ], "is_obsolete": "", "replace_id": "" }, "HP:0031088": { "name": [ "vaginal dryness", "vaginal dryness" ], "alt_id": [], "def": "Persistent vaginal dryness.", "synonym": [], "xref": [], "is_a": [ "HP:0000142" ], "is_obsolete": "", "replace_id": "" }, "HP:0031089": { "name": [ "palatal edema", "palatal edema" ], "alt_id": [], "def": "Swelling related to fluid accumulation within the palate.", "synonym": [ [ "palatal oedema", "palatal oedema" ], [ "palate edema", "palate edema" ], [ "palate oedema", "palate oedema" ] ], "xref": [], "is_a": [ "HP:0000174" ], "is_obsolete": "", "replace_id": "" }, "HP:0031090": { "name": [ "finger dactylitis", "finger dactylitis" ], "alt_id": [], "def": "Fingers appear swollen and plump owing to inflammation of the complete finger.", "synonym": [ [ "sausage fingers", "sausage finger" ] ], "xref": [], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0031091": { "name": [ "toe dactylitis", "toe dactylitis" ], "alt_id": [], "def": "Toes appear swollen and plump owing to inflammation of the complete toe.", "synonym": [ [ "sausage toes", "sausage toe" ] ], "xref": [], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0031092": { "name": [ "spindle - shaped finger", "spindle - shape finger" ], "alt_id": [], "def": "Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base).", "synonym": [], "xref": [], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0031093": { "name": [ "abnormal breast morphology", "abnormal breast morphology" ], "alt_id": [], "def": "Any anomaly of the structure of the breast.", "synonym": [], "xref": [], "is_a": [ "HP:0000769" ], "is_obsolete": "", "replace_id": "" }, "HP:0031094": { "name": [ "abnormal breast physiology", "abnormal breast physiology" ], "alt_id": [], "def": "Any anomaly of the function of the breast.", "synonym": [], "xref": [], "is_a": [ "HP:0000769" ], "is_obsolete": "", "replace_id": "" }, "HP:0031095": { "name": [ "abnormal humerus morphology", "abnormal humerus morphology" ], "alt_id": [], "def": "Any anomaly of the structure of the humerus.", "synonym": [], "xref": [], "is_a": [ "HP:0003063", "HP:0011314" ], "is_obsolete": "", "replace_id": "" }, "HP:0031096": { "name": [ "delayed vertebral ossification", "delay vertebral ossification" ], "alt_id": [], "def": "A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age.", "synonym": [], "xref": [], "is_a": [ "HP:0100569" ], "is_obsolete": "", "replace_id": "" }, "HP:0031097": { "name": [ "abnormal thyroid - stimulating hormone level", "abnormal thyroid - stimulate hormone level" ], "alt_id": [], "def": "Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.", "synonym": [ [ "abnormal circulating thyrotropin concentration", "abnormal circulate thyrotropin concentration" ], [ "abnormal thyrotropin level", "abnormal thyrotropin level" ], [ "abnormal tsh level", "abnormal tsh level" ] ], "xref": [], "is_a": [ "HP:0012503" ], "is_obsolete": "", "replace_id": "" }, "HP:0031098": { "name": [ "decreased thyroid - stimulating hormone level", "decrease thyroid - stimulate hormone level" ], "alt_id": [], "def": "Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.", "synonym": [ [ "decreased plasma tsh", "decrease plasma tsh" ], [ "decreased thyrotropin level", "decrease thyrotropin level" ] ], "xref": [], "is_a": [ "HP:0031097" ], "is_obsolete": "", "replace_id": "" }, "HP:0031099": { "name": [ "abnormal circulating inhibin level", "abnormal circulate inhibin level" ], "alt_id": [], "def": "Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.", "synonym": [], "xref": [], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0031100": { "name": [ "decreased inhibin b level", "decrease inhibin b level" ], "alt_id": [], "def": "A reduced concentration of inhibin B in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0031099" ], "is_obsolete": "", "replace_id": "" }, "HP:0031101": { "name": [ "abnormal circulating antimullerian hormone concentration", "abnormal circulate antimullerian hormone concentration" ], "alt_id": [], "def": "Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases.", "synonym": [ [ "abnormal antimullerian hormone level", "abnormal antimullerian hormone level" ] ], "xref": [], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0031102": { "name": [ "increased antimullerian hormone level", "increase antimullerian hormone level" ], "alt_id": [], "def": "An elevation above the normal range of the antimullerian hormone in the circulation.", "synonym": [ [ "increased plasma amh", "increase plasma amh" ] ], "xref": [], "is_a": [ "HP:0031101" ], "is_obsolete": "", "replace_id": "" }, "HP:0031103": { "name": [ "decreased antimullerian hormone level", "decrease antimullerian hormone level" ], "alt_id": [], "def": "A reduction below the normal range of the antimullerian hormone in the circulation.", "synonym": [ [ "decreased plasma amh", "decrease plasma amh" ] ], "xref": [], "is_a": [ "HP:0031101" ], "is_obsolete": "", "replace_id": "" }, "HP:0031104": { "name": [ "insulin receptor antibody positivity", "insulin receptor antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0031105": { "name": [ "abnormal uterus morphology", "abnormal uterus morphology" ], "alt_id": [], "def": "Any anomaly of the structure of the uterus", "synonym": [], "xref": [], "is_a": [ "HP:0000130" ], "is_obsolete": "", "replace_id": "" }, "HP:0031106": { "name": [ "t - shaped uterus", "t - shape uterus" ], "alt_id": [], "def": "An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging.", "synonym": [], "xref": [], "is_a": [ "HP:0031105" ], "is_obsolete": "", "replace_id": "" }, "HP:0031107": { "name": [ "decreased fibular diameter", "decrease fibular diameter" ], "alt_id": [], "def": "Reduced width of the cross sectional diameter of the fibula.", "synonym": [ [ "thin fibula", "thin fibula" ] ], "xref": [], "is_a": [ "HP:0002991" ], "is_obsolete": "", "replace_id": "" }, "HP:0031108": { "name": [ "triceps weakness", "triceps weakness" ], "alt_id": [], "def": "A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.", "synonym": [], "xref": [], "is_a": [ "HP:0008997" ], "is_obsolete": "", "replace_id": "" }, "HP:0031109": { "name": [ "agalactia", "agalactia" ], "alt_id": [], "def": "Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant.", "synonym": [ [ "lactation incapacity", "lactation incapacity" ] ], "xref": [], "is_a": [ "HP:0031094" ], "is_obsolete": "", "replace_id": "" }, "HP:0031110": { "name": [ "twin - to - twin transfusion", "twin - to - twin transfusion" ], "alt_id": [], "def": "As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure.", "synonym": [ [ "twin to twin transfusion syndrome", "twin to twin transfusion syndrome" ] ], "xref": [], "is_a": [ "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0031111": { "name": [ "cutaneous hamartoma", "cutaneous hamartoma" ], "alt_id": [], "def": "A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.", "synonym": [ [ "skin hamartoma", "skin hamartoma" ] ], "xref": [], "is_a": [ "HP:0010566" ], "is_obsolete": "", "replace_id": "" }, "HP:0031117": { "name": [ "purely bicuspid aortic valve", "purely bicuspid aortic valve" ], "alt_id": [], "def": "A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis.", "synonym": [], "xref": [], "is_a": [ "HP:0001647" ], "is_obsolete": "", "replace_id": "" }, "HP:0031118": { "name": [ "single raphe bicuspid aortic valve", "single raphe bicuspid aortic valve" ], "alt_id": [], "def": "A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.", "synonym": [], "xref": [], "is_a": [ "HP:0001647" ], "is_obsolete": "", "replace_id": "" }, "HP:0031119": { "name": [ "bicuspid aortic valve with right - left cusp fusion", "bicuspid aortic valve with right - leave cusp fusion" ], "alt_id": [], "def": "A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure.", "synonym": [], "xref": [], "is_a": [ "HP:0031118" ], "is_obsolete": "", "replace_id": "" }, "HP:0031120": { "name": [ "bicuspid aortic valve with right - noncoronary cusp fusion", "bicuspid aortic valve with right - noncoronary cusp fusion" ], "alt_id": [], "def": "A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure.", "synonym": [], "xref": [], "is_a": [ "HP:0031118" ], "is_obsolete": "", "replace_id": "" }, "HP:0031121": { "name": [ "bicuspid aortic valve with left - noncoronary cusp fusion", "bicuspid aortic valve with left - noncoronary cusp fusion" ], "alt_id": [], "def": "A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure.", "synonym": [], "xref": [], "is_a": [ "HP:0031118" ], "is_obsolete": "", "replace_id": "" }, "HP:0031122": { "name": [ "two - raphe bicuspid aortic valve", "two - raphe bicuspid aortic valve" ], "alt_id": [], "def": "A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis.", "synonym": [], "xref": [], "is_a": [ "HP:0001647" ], "is_obsolete": "", "replace_id": "" }, "HP:0031123": { "name": [ "recurrent gastroenteritis", "recurrent gastroenteritis" ], "alt_id": [], "def": "Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.", "synonym": [], "xref": [], "is_a": [ "HP:0004798" ], "is_obsolete": "", "replace_id": "" }, "HP:0031124": { "name": [ "decreased platelet thromboxane a2 receptor", "decrease platelet thromboxane a2 receptor" ], "alt_id": [], "def": "Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2).", "synonym": [], "xref": [], "is_a": [ "HP:0011878" ], "is_obsolete": "", "replace_id": "" }, "HP:0031125": { "name": [ "decreased platelet alpha - 2a - adrenergic receptor", "decrease platelet alpha - 2a - adrenergic receptor" ], "alt_id": [], "def": "Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine.", "synonym": [], "xref": [], "is_a": [ "HP:0011878" ], "is_obsolete": "", "replace_id": "" }, "HP:0031126": { "name": [ "impaired clot retraction", "impaired clot retraction" ], "alt_id": [], "def": "Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.", "synonym": [], "xref": [], "is_a": [ "HP:0011869" ], "is_obsolete": "", "replace_id": "" }, "HP:0031127": { "name": [ "impaired convulxin - induced platelet aggregation", "impaired convulxin - induced platelet aggregation" ], "alt_id": [], "def": "Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin.", "synonym": [], "xref": [], "is_a": [ "HP:0003540" ], "is_obsolete": "", "replace_id": "" }, "HP:0031128": { "name": [ "impaired collagen - related peptide - induced platelet aggregation", "impaired collagen - relate peptide - induced platelet aggregation" ], "alt_id": [], "def": "Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.", "synonym": [], "xref": [], "is_a": [ "HP:0003540" ], "is_obsolete": "", "replace_id": "" }, "HP:0031129": { "name": [ "impaired phorbol myristate acetate - induced platelet aggregation", "impaired phorbol myristate acetate - induced platelet aggregation" ], "alt_id": [], "def": "Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA.", "synonym": [], "xref": [], "is_a": [ "HP:0003540" ], "is_obsolete": "", "replace_id": "" }, "HP:0031130": { "name": [ "impaired calcium ionophore - induced platelet aggregation", "impaired calcium ionophore - induced platelet aggregation" ], "alt_id": [], "def": "Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore.", "synonym": [ [ "impaired ca ionophore - induced platelet aggregation", "impaired ca ionophore - induced platelet aggregation" ], [ "impaired ca2+ ionophore - induced platelet aggregation", "impaired ca2+ ionophore - induced platelet aggregation" ] ], "xref": [], "is_a": [ "HP:0003540" ], "is_obsolete": "", "replace_id": "" }, "HP:0031131": { "name": [ "abnormal platelet phosphatidylserine exposure", "abnormal platelet phosphatidylserine exposure" ], "alt_id": [], "def": "An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement.", "synonym": [], "xref": [], "is_a": [ "HP:0011869" ], "is_obsolete": "", "replace_id": "" }, "HP:0031132": { "name": [ "impaired annexin v binding to platelet phosphatidylserine", "impaired annexin v bind to platelet phosphatidylserine" ], "alt_id": [], "def": "Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.", "synonym": [], "xref": [], "is_a": [ "HP:0031131" ], "is_obsolete": "", "replace_id": "" }, "HP:0031133": { "name": [ "increased annexin v binding to platelet phosphatidylserine", "increase annexin v bind to platelet phosphatidylserine" ], "alt_id": [], "def": "Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.", "synonym": [], "xref": [], "is_a": [ "HP:0031132" ], "is_obsolete": "", "replace_id": "" }, "HP:0031134": { "name": [ "cor triatrium sinister", "cor triatrium sinister" ], "alt_id": [], "def": "A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.", "synonym": [], "xref": [], "is_a": [ "HP:0010774" ], "is_obsolete": "", "replace_id": "" }, "HP:0031135": { "name": [ "triggered by physical trauma", "trigger by physical trauma" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue).", "synonym": [ [ "physical trauma triggered symptoms", "physical trauma trigger symptom" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0031136": { "name": [ "decreased acrosin in sperm head", "decrease acrosin in sperm head" ], "alt_id": [], "def": "A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process.", "synonym": [], "xref": [], "is_a": [ "HP:0012865" ], "is_obsolete": "", "replace_id": "" }, "HP:0031137": { "name": [ "storage in hepatocytes", "storage in hepatocytes" ], "alt_id": [], "def": "Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.", "synonym": [], "xref": [], "is_a": [ "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0031138": { "name": [ "abnormal b - type natriuretic peptide level", "abnormal b - type natriuretic peptide level" ], "alt_id": [], "def": "A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP).", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0031139": { "name": [ "frog - leg posture", "frog - leg posture" ], "alt_id": [], "def": "A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog.", "synonym": [], "xref": [], "is_a": [ "HP:0001252" ], "is_obsolete": "", "replace_id": "" }, "HP:0031140": { "name": [ "abnormal liver sonography", "abnormal liver sonography" ], "alt_id": [], "def": "An abnormal appearance of the liver or any of its components on sonography (ultrasound).", "synonym": [], "xref": [], "is_a": [ "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0031141": { "name": [ "increased hepatic echogenicity", "increase hepatic echogenicity" ], "alt_id": [], "def": "Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.", "synonym": [ [ "hyperechogenic liver", "hyperechogenic liver" ] ], "xref": [], "is_a": [ "HP:0031142" ], "is_obsolete": "", "replace_id": "" }, "HP:0031142": { "name": [ "abnormal hepatic echogenicity", "abnormal hepatic echogenicity" ], "alt_id": [], "def": "Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).", "synonym": [], "xref": [], "is_a": [ "HP:0031140" ], "is_obsolete": "", "replace_id": "" }, "HP:0031143": { "name": [ "decreased hepatic echogenicity", "decrease hepatic echogenicity" ], "alt_id": [], "def": "Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device.", "synonym": [ [ "hypoechogenic liver", "hypoechogenic liver" ] ], "xref": [], "is_a": [ "HP:0031142" ], "is_obsolete": "", "replace_id": "" }, "HP:0031144": { "name": [ "coarsened hepatic echotexture", "coarsen hepatic echotexture" ], "alt_id": [], "def": "The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography.", "synonym": [], "xref": [], "is_a": [ "HP:0031140" ], "is_obsolete": "", "replace_id": "" }, "HP:0031145": { "name": [ "starry sky appearance on hepatic sonography", "starry sky appearance on hepatic sonography" ], "alt_id": [], "def": "An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background).", "synonym": [], "xref": [], "is_a": [ "HP:0031140" ], "is_obsolete": "", "replace_id": "" }, "HP:0031146": { "name": [ "impaired oral bolus formation", "impaired oral bolus formation" ], "alt_id": [], "def": "An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed.", "synonym": [], "xref": [], "is_a": [ "HP:0002015" ], "is_obsolete": "", "replace_id": "" }, "HP:0031150": { "name": [ "vitreomacular adhesion", "vitreomacular adhesion" ], "alt_id": [], "def": "Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions.", "synonym": [], "xref": [], "is_a": [ "HP:0001103" ], "is_obsolete": "", "replace_id": "" }, "HP:0031151": { "name": [ "vitreomacular traction", "vitreomacular traction" ], "alt_id": [], "def": "Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad.", "synonym": [], "xref": [], "is_a": [ "HP:0001103" ], "is_obsolete": "", "replace_id": "" }, "HP:0031152": { "name": [ "full - thickness macular hole", "full - thickness macular hole" ], "alt_id": [], "def": "Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction.", "synonym": [], "xref": [], "is_a": [ "HP:0011508" ], "is_obsolete": "", "replace_id": "" }, "HP:0031153": { "name": [ "membranous vitreous appearance", "membranous vitreous appearance" ], "alt_id": [], "def": "Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane.", "synonym": [ [ "membranous anomaly", "membranous anomaly" ], [ "membranous vitreous", "membranous vitreous" ], [ "membranous vitreous phenotype", "membranous vitreous phenotype" ] ], "xref": [], "is_a": [ "HP:0004327" ], "is_obsolete": "", "replace_id": "" }, "HP:0031154": { "name": [ "beaded vitreous appearance", "bead vitreous appearance" ], "alt_id": [], "def": "Vitreous humor of the eye displaying beaded bundles of irregular diameters.", "synonym": [], "xref": [], "is_a": [ "HP:0004327" ], "is_obsolete": "", "replace_id": "" }, "HP:0031155": { "name": [ "increased arden ratio of electrooculogram", "increase arden ratio of electrooculogram" ], "alt_id": [], "def": "An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.", "synonym": [ [ "increased arden ratio of eog", "increase arden ratio of eog" ] ], "xref": [], "is_a": [ "HP:0030454" ], "is_obsolete": "", "replace_id": "" }, "HP:0031156": { "name": [ "decreased platelet glycoprotein ib", "decrease platelet glycoprotein ib" ], "alt_id": [], "def": "Decreased platelet cell membrane concentration of glycoprotein Ib.", "synonym": [], "xref": [], "is_a": [ "HP:0011878" ], "is_obsolete": "", "replace_id": "" }, "HP:0031157": { "name": [ "carotid cavernous fistula", "carotid cavernous fistula" ], "alt_id": [], "def": "An abnormal connection between a carotid artery and the cavernous sinus.", "synonym": [ [ "caroticocavernous fistula", "caroticocavernous fistula" ] ], "xref": [], "is_a": [ "HP:0005344" ], "is_obsolete": "", "replace_id": "" }, "HP:0031158": { "name": [ "widened atrophic scar", "widen atrophic scar" ], "alt_id": [], "def": "An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.", "synonym": [], "xref": [], "is_a": [ "HP:0001075" ], "is_obsolete": "", "replace_id": "" }, "HP:0031159": { "name": [ "thinning of descemet membrane", "thinning of descemet membrane" ], "alt_id": [], "def": "A reduction in the thickness of Descemet's membrane.", "synonym": [], "xref": [], "is_a": [ "HP:0011490" ], "is_obsolete": "", "replace_id": "" }, "HP:0031160": { "name": [ "myelokathexis", "myelokathexis" ], "alt_id": [], "def": "Impaired egress of mature neutrophils from bone marrow causing neutropenia.", "synonym": [], "xref": [], "is_a": [ "HP:0012135" ], "is_obsolete": "", "replace_id": "" }, "HP:0031161": { "name": [ "reduced brain glutamate level by mrs", "reduce brain glutamate level by mr" ], "alt_id": [], "def": "An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS).", "synonym": [], "xref": [], "is_a": [ "HP:0012705" ], "is_obsolete": "", "replace_id": "" }, "HP:0031162": { "name": [ "impaired oropharyngeal swallow response", "impaired oropharyngeal swallow response" ], "alt_id": [], "def": "Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.", "synonym": [], "xref": [], "is_a": [ "HP:0002015" ], "is_obsolete": "", "replace_id": "" }, "HP:0031163": { "name": [ "low femoral bone density", "low femoral bone density" ], "alt_id": [], "def": "Reduced bone mineral density of the femur.", "synonym": [ [ "low femur bone density", "low femur bone density" ] ], "xref": [], "is_a": [ "HP:0002823" ], "is_obsolete": "", "replace_id": "" }, "HP:0031164": { "name": [ "growth arrest lines", "growth arrest line" ], "alt_id": [], "def": "Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone.", "synonym": [ [ "growth resumption lines", "growth resumption line" ], [ "harris lines", "harris line" ] ], "xref": [], "is_a": [ "HP:0031367" ], "is_obsolete": "", "replace_id": "" }, "HP:0031165": { "name": [ "multifocal seizures", "multifocal seizure" ], "alt_id": [], "def": "Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).", "synonym": [ [ "multifocal onset seizures", "multifocal onset seizure" ] ], "xref": [], "is_a": [ "HP:0007359" ], "is_obsolete": "", "replace_id": "" }, "HP:0031166": { "name": [ "eyelid myokymia", "eyelid myokymia" ], "alt_id": [], "def": "Involuntary, fine, continuous, undulating contractions of the eyelid.", "synonym": [ [ "myokymia orbicularis", "myokymia orbicularis" ], [ "orbicularis myokymia", "orbicularis myokymia" ] ], "xref": [], "is_a": [ "HP:0002411" ], "is_obsolete": "", "replace_id": "" }, "HP:0031167": { "name": [ "triggered by ingestion of potassium - rich food", "trigger by ingestion of potassium - rich food" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium.", "synonym": [ [ "potassium - rich food triggered symptoms", "potassium - rich food trigger symptom" ], [ "triggered by ingestion of k - rich food", "trigger by ingestion of k - rich food" ] ], "xref": [], "is_a": [ "HP:0033793" ], "is_obsolete": "", "replace_id": "" }, "HP:0031169": { "name": [ "postterm pregnancy", "postterm pregnancy" ], "alt_id": [], "def": "A pregnancy that extends to 42 weeks of gestation or beyond.", "synonym": [], "xref": [], "is_a": [ "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0031170": { "name": [ "female fetal virilization", "female fetal virilization" ], "alt_id": [], "def": "Fetal masculinization of female external genitalia.", "synonym": [ [ "female foetal virilization", "female foetal virilization" ] ], "xref": [], "is_a": [ "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0031171": { "name": [ "femoral spur", "femoral spur" ], "alt_id": [], "def": "A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck.", "synonym": [ [ "spurring of femur", "spurring of femur" ] ], "xref": [], "is_a": [ "HP:0002823" ], "is_obsolete": "", "replace_id": "" }, "HP:0031172": { "name": [ "sectoral retinitis pigmentosa", "sectoral retinitis pigmentosa" ], "alt_id": [], "def": "A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration.", "synonym": [], "xref": [], "is_a": [ "HP:0000510" ], "is_obsolete": "", "replace_id": "" }, "HP:0031173": { "name": [ "tibial spur", "tibial spur" ], "alt_id": [], "def": "A bony projection (spur, osteophyte) originating from the tibia.", "synonym": [ [ "spurring of tibiae", "spurring of tibia" ] ], "xref": [], "is_a": [ "HP:0002992" ], "is_obsolete": "", "replace_id": "" }, "HP:0031174": { "name": [ "double - layered patella", "double - layer patella" ], "alt_id": [], "def": "An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood.", "synonym": [], "xref": [], "is_a": [ "HP:0003045" ], "is_obsolete": "", "replace_id": "" }, "HP:0031175": { "name": [ "absent cervical vertebra", "absent cervical vertebra" ], "alt_id": [], "def": "A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine.", "synonym": [], "xref": [], "is_a": [ "HP:0008465" ], "is_obsolete": "", "replace_id": "" }, "HP:0031176": { "name": [ "absent thoracic vertebra", "absent thoracic vertebra" ], "alt_id": [], "def": "A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine.", "synonym": [], "xref": [], "is_a": [ "HP:0008465" ], "is_obsolete": "", "replace_id": "" }, "HP:0031177": { "name": [ "finger flexor weakness", "finger flexor weakness" ], "alt_id": [], "def": "Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.", "synonym": [], "xref": [], "is_a": [ "HP:0030237" ], "is_obsolete": "", "replace_id": "" }, "HP:0031178": { "name": [ "fixed head retroflexion", "fix head retroflexion" ], "alt_id": [], "def": "Head is bent in the posterior direction in a permanent fashion.", "synonym": [], "xref": [], "is_a": [ "HP:0000234" ], "is_obsolete": "", "replace_id": "" }, "HP:0031179": { "name": [ "nuchal rigidity", "nuchal rigidity" ], "alt_id": [], "def": "Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated.", "synonym": [ [ "meningism", "meningism" ] ], "xref": [], "is_a": [ "HP:0005986" ], "is_obsolete": "", "replace_id": "" }, "HP:0031180": { "name": [ "erythema migrans", "erythema migrans" ], "alt_id": [], "def": "An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).", "synonym": [ [ "erythema chronicum migrans", "erythema chronicum migrans" ] ], "xref": [], "is_a": [ "HP:0010783" ], "is_obsolete": "", "replace_id": "" }, "HP:0031181": { "name": [ "necrolytic migratory erythema", "necrolytic migratory erythema" ], "alt_id": [], "def": "Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution.", "synonym": [], "xref": [], "is_a": [ "HP:0010783" ], "is_obsolete": "", "replace_id": "" }, "HP:0031185": { "name": [ "increased circulating nt - probnp concentration", "increase circulate nt - probnp concentration" ], "alt_id": [], "def": "An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP).", "synonym": [ [ "increased nt - probnp level", "increase nt - probnp level" ] ], "xref": [], "is_a": [ "HP:0031138" ], "is_obsolete": "", "replace_id": "" }, "HP:0031186": { "name": [ "abnormal circulating deoxycorticosterone level", "abnormal circulate deoxycorticosterone level" ], "alt_id": [], "def": "An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.", "synonym": [], "xref": [], "is_a": [ "HP:0012112" ], "is_obsolete": "", "replace_id": "" }, "HP:0031187": { "name": [ "abnormal circulating pregnenolone concentration", "abnormal circulate pregnenolone concentration" ], "alt_id": [], "def": "An abnormality of the concentration of pregnenolone in the blood.", "synonym": [ [ "abnormality of circulating pregnenolone level", "abnormality of circulate pregnenolone level" ] ], "xref": [], "is_a": [ "HP:0033799" ], "is_obsolete": "", "replace_id": "" }, "HP:0031188": { "name": [ "genital edema", "genital edema" ], "alt_id": [], "def": "A buildup of fluid that causes swelling in the soft tissues of the genital area.", "synonym": [ [ "genital oedema", "genital oedema" ] ], "xref": [], "is_a": [ "HP:0000969" ], "is_obsolete": "", "replace_id": "" }, "HP:0031189": { "name": [ "wrist drop", "wrist drop" ], "alt_id": [], "def": "A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.", "synonym": [], "xref": [], "is_a": [ "HP:0003484" ], "is_obsolete": "", "replace_id": "" }, "HP:0031190": { "name": [ "superficial dermal perivascular inflammatory infiltrate", "superficial dermal perivascular inflammatory infiltrate" ], "alt_id": [], "def": "Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis.", "synonym": [ [ "superficial perivascular inflammatory infiltrate", "superficial perivascular inflammatory infiltrate" ] ], "xref": [], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0031191": { "name": [ "deep dermal perivascular inflammatory infiltrate", "deep dermal perivascular inflammatory infiltrate" ], "alt_id": [], "def": "Numerous lymphocytes surrounding blood vessels in the deep part of the dermis.", "synonym": [ [ "deep perivascular inflammatory infiltrate", "deep perivascular inflammatory infiltrate" ] ], "xref": [], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0031192": { "name": [ "abnormal morphology of left ventricular trabeculae", "abnormal morphology of left ventricular trabecula" ], "alt_id": [], "def": "Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).", "synonym": [], "xref": [], "is_a": [ "HP:0030681" ], "is_obsolete": "", "replace_id": "" }, "HP:0031193": { "name": [ "abnormal morphology of right ventricular trabeculae", "abnormal morphology of right ventricular trabecula" ], "alt_id": [], "def": "Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae).", "synonym": [], "xref": [], "is_a": [ "HP:0030681" ], "is_obsolete": "", "replace_id": "" }, "HP:0031194": { "name": [ "increased density of left ventricular trabeculae", "increase density of left ventricular trabecula" ], "alt_id": [], "def": "An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae).", "synonym": [], "xref": [], "is_a": [ "HP:0031192" ], "is_obsolete": "", "replace_id": "" }, "HP:0031195": { "name": [ "apical hypertrabeculation of the left ventricle", "apical hypertrabeculation of the left ventricle" ], "alt_id": [], "def": "An increased number and density of the trabeculae in the apex (tip) of the left ventricle.", "synonym": [], "xref": [], "is_a": [ "HP:0031192" ], "is_obsolete": "", "replace_id": "" }, "HP:0031196": { "name": [ "thin myocardium compact layer", "thin myocardium compact layer" ], "alt_id": [], "def": "Reduced thickness of the outer, dense layer of the myocardium.", "synonym": [], "xref": [], "is_a": [ "HP:0031192" ], "is_obsolete": "", "replace_id": "" }, "HP:0031197": { "name": [ "cellular urinary casts", "cellular urinary cast" ], "alt_id": [], "def": "A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells).", "synonym": [ [ "cellular casts", "cellular cast" ] ], "xref": [], "is_a": [ "HP:0012615" ], "is_obsolete": "", "replace_id": "" }, "HP:0031198": { "name": [ "renal tubular epithelial cell casts", "renal tubular epithelial cell cast" ], "alt_id": [], "def": "A type of cellular urinary cast composed of renal tubular epithelial cells.", "synonym": [], "xref": [], "is_a": [ "HP:0031197" ], "is_obsolete": "", "replace_id": "" }, "HP:0031199": { "name": [ "acellular urinary casts", "acellular urinary cast" ], "alt_id": [], "def": "A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells.", "synonym": [ [ "acellular casts", "acellular cast" ] ], "xref": [], "is_a": [ "HP:0012615" ], "is_obsolete": "", "replace_id": "" }, "HP:0031200": { "name": [ "hyaline casts", "hyaline cast" ], "alt_id": [], "def": "A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.", "synonym": [], "xref": [], "is_a": [ "HP:0031199" ], "is_obsolete": "", "replace_id": "" }, "HP:0031201": { "name": [ "granular casts", "granular cast" ], "alt_id": [], "def": "A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.", "synonym": [], "xref": [], "is_a": [ "HP:0031199" ], "is_obsolete": "", "replace_id": "" }, "HP:0031202": { "name": [ "waxy casts", "waxy cast" ], "alt_id": [], "def": "A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts.", "synonym": [], "xref": [], "is_a": [ "HP:0031199" ], "is_obsolete": "", "replace_id": "" }, "HP:0031203": { "name": [ "fatty casts", "fatty cast" ], "alt_id": [], "def": "A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.", "synonym": [], "xref": [], "is_a": [ "HP:0031199" ], "is_obsolete": "", "replace_id": "" }, "HP:0031204": { "name": [ "bacterial cell casts", "bacterial cell cast" ], "alt_id": [], "def": "A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection.", "synonym": [], "xref": [], "is_a": [ "HP:0012615" ], "is_obsolete": "", "replace_id": "" }, "HP:0031205": { "name": [ "reduced lysosomal acid lipase activity", "reduce lysosomal acid lipase activity" ], "alt_id": [], "def": "Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins.", "synonym": [ [ "reduced leukocyte acid lipase activity", "reduce leukocyte acid lipase activity" ] ], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0031206": { "name": [ "striatal t2 hyperintensity", "striatal t2 hyperintensity" ], "alt_id": [], "def": "Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.", "synonym": [], "xref": [], "is_a": [ "HP:0010994" ], "is_obsolete": "", "replace_id": "" }, "HP:0031207": { "name": [ "hepatic hemangioma", "hepatic hemangioma" ], "alt_id": [], "def": "A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size.", "synonym": [ [ "hemangioma of the liver", "hemangioma of the liver" ], [ "liver hemangioma", "liver hemangioma" ] ], "xref": [], "is_a": [ "HP:0002896", "HP:0410266" ], "is_obsolete": "", "replace_id": "" }, "HP:0031208": { "name": [ "increased pituitary glycoprotein hormone alpha subunit level", "increase pituitary glycoprotein hormone alpha subunit level" ], "alt_id": [], "def": "An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.", "synonym": [ [ "increased pituitary glycoprotein alpha subunit level", "increase pituitary glycoprotein alpha subunit level" ], [ "increased pituitary glycoprotein polypeptide alpha subunit level", "increase pituitary glycoprotein polypeptide alpha subunit level" ] ], "xref": [], "is_a": [ "HP:0032481" ], "is_obsolete": "", "replace_id": "" }, "HP:0031209": { "name": [ "decreased circulating lipoprotein lipase concentration", "decrease circulate lipoprotein lipase concentration" ], "alt_id": [], "def": "Reduction in the level of lipoprotein lipase in the blood.", "synonym": [ [ "decreased lipoprotein lipase level", "decrease lipoprotein lipase level" ] ], "xref": [], "is_a": [ "HP:0033477" ], "is_obsolete": "", "replace_id": "" }, "HP:0031210": { "name": [ "abnormal circulating hyaluronic acid concentration", "abnormal circulate hyaluronic acid concentration" ], "alt_id": [], "def": "A deviation from the normal concentration of hyaluronic acid in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0011012" ], "is_obsolete": "", "replace_id": "" }, "HP:0031211": { "name": [ "elevated cholesterol ester level", "elevate cholesterol ester level" ], "alt_id": [ "HP:0500010" ], "def": "An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol.", "synonym": [ [ "elevated cholesteryl ester level", "elevate cholesteryl ester level" ], [ "increased cholesterol esters", "increase cholesterol ester" ], [ "increased cholesteryl esters", "increase cholesteryl ester" ] ], "xref": [], "is_a": [ "HP:0003107" ], "is_obsolete": "", "replace_id": "" }, "HP:0031212": { "name": [ "abnormal circulating progesterone level", "abnormal circulate progesterone level" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0033799" ], "is_obsolete": "", "replace_id": "" }, "HP:0031213": { "name": [ "elevated circulating 17 - hydroxyprogesterone", "elevate circulate 17 - hydroxyprogesterone" ], "alt_id": [], "def": "An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.", "synonym": [ [ "elevated circulating 17 - ohp", "elevate circulate 17 - ohp" ] ], "xref": [], "is_a": [ "HP:0031212" ], "is_obsolete": "", "replace_id": "" }, "HP:0031214": { "name": [ "decreased circulating dehydroepiandrosterone concentration", "decrease circulate dehydroepiandrosterone concentration" ], "alt_id": [], "def": "", "synonym": [ [ "decreased circulating dehydroepiandrosterone level", "decrease circulate dehydroepiandrosterone level" ] ], "xref": [], "is_a": [ "HP:0500022" ], "is_obsolete": "", "replace_id": "" }, "HP:0031215": { "name": [ "decreased circulating dehydroepiandrosterone - sulfate concentration", "decrease circulate dehydroepiandrosterone - sulfate concentration" ], "alt_id": [], "def": "A reduced concentration of dehydroepiandrosterone-sulfate in the blood.", "synonym": [ [ "decreased circulating dehydroepiandrosterone - sulfate level", "decrease circulate dehydroepiandrosterone - sulfate level" ] ], "xref": [], "is_a": [ "HP:0030347" ], "is_obsolete": "", "replace_id": "" }, "HP:0031216": { "name": [ "increased circulating progesterone", "increase circulate progesterone" ], "alt_id": [], "def": "An elevated concentration of progesterone in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0031212" ], "is_obsolete": "", "replace_id": "" }, "HP:0031217": { "name": [ "hot flashes", "hot flash" ], "alt_id": [], "def": "Sudden feelings of warmth that are generally most pronounced over the face, neck and chest.", "synonym": [], "xref": [], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0031218": { "name": [ "inappropriate antidiuretic hormone secretion", "inappropriate antidiuretic hormone secretion" ], "alt_id": [], "def": "A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume.", "synonym": [ [ "inappropriate adh secretion", "inappropriate adh secretion" ], [ "syndrome of inappropriate antidiuretic hormone secretion", "syndrome of inappropriate antidiuretic hormone secretion" ] ], "xref": [], "is_a": [ "HP:0031072" ], "is_obsolete": "", "replace_id": "" }, "HP:0031219": { "name": [ "reduced radioactive iodine uptake", "reduce radioactive iodine uptake" ], "alt_id": [], "def": "A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.", "synonym": [], "xref": [], "is_a": [ "HP:0031221" ], "is_obsolete": "", "replace_id": "" }, "HP:0031220": { "name": [ "increased radioactive iodine uptake", "increase radioactive iodine uptake" ], "alt_id": [], "def": "An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.", "synonym": [], "xref": [], "is_a": [ "HP:0031221" ], "is_obsolete": "", "replace_id": "" }, "HP:0031221": { "name": [ "abnormal radioactive iodine uptake test result", "abnormal radioactive iodine uptake test result" ], "alt_id": [], "def": "Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.", "synonym": [], "xref": [], "is_a": [ "HP:0002926" ], "is_obsolete": "", "replace_id": "" }, "HP:0031222": { "name": [ "increased circulating thyroxine - binding globulin level", "increase circulate thyroxine - binding globulin level" ], "alt_id": [], "def": "An elevated concentration of thyroxine-binding globulin (TBG) in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0031223": { "name": [ "focal pancreatic islet hyperplasia", "focal pancreatic islet hyperplasia" ], "alt_id": [], "def": "Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.", "synonym": [], "xref": [], "is_a": [ "HP:0004510" ], "is_obsolete": "", "replace_id": "" }, "HP:0031224": { "name": [ "diffuse pancreatic islet hyperplasia", "diffuse pancreatic islet hyperplasia" ], "alt_id": [], "def": "Hyperplasia of the islets of Langerhans with a generalized distribution.", "synonym": [], "xref": [], "is_a": [ "HP:0004510" ], "is_obsolete": "", "replace_id": "" }, "HP:0031225": { "name": [ "intrapulmonary shunt", "intrapulmonary shunt" ], "alt_id": [], "def": "Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs.", "synonym": [ [ "intrapulmonary shunting", "intrapulmonary shunting" ] ], "xref": [], "is_a": [ "HP:0030875" ], "is_obsolete": "", "replace_id": "" }, "HP:0031226": { "name": [ "perinephric fluid collection", "perinephric fluid collection" ], "alt_id": [], "def": "An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography.", "synonym": [], "xref": [], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0031227": { "name": [ "nasopharyngeal teratoma", "nasopharyngeal teratoma" ], "alt_id": [], "def": "A teratoma arising in the nasopharyngeal region.", "synonym": [], "xref": [], "is_a": [ "HP:0009792" ], "is_obsolete": "", "replace_id": "" }, "HP:0031228": { "name": [ "abnormal incisura morphology", "abnormal incisura morphology" ], "alt_id": [], "def": "An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus.", "synonym": [], "xref": [], "is_a": [ "HP:0011039" ], "is_obsolete": "", "replace_id": "" }, "HP:0031229": { "name": [ "increased incisura length", "increase incisura length" ], "alt_id": [], "def": "The length of the incisura from the upper to lower border is greater than that observed in the average population.", "synonym": [], "xref": [], "is_a": [ "HP:0031228" ], "is_obsolete": "", "replace_id": "" }, "HP:0031230": { "name": [ "decreased incisura length", "decrease incisura length" ], "alt_id": [], "def": "The length of the incisura from the upper to lower border is less than that observed in the average population.", "synonym": [], "xref": [], "is_a": [ "HP:0031228" ], "is_obsolete": "", "replace_id": "" }, "HP:0031231": { "name": [ "narrow incisura width", "narrow incisura width" ], "alt_id": [], "def": "Width of the incisura from the anterior to posterior border less than that observed in the average population.", "synonym": [], "xref": [], "is_a": [ "HP:0031228" ], "is_obsolete": "", "replace_id": "" }, "HP:0031232": { "name": [ "increased incisura width", "increase incisura width" ], "alt_id": [], "def": "Breadth of the incisura from the anterior to posterior border greater than that observed in the average population.", "synonym": [], "xref": [], "is_a": [ "HP:0031228" ], "is_obsolete": "", "replace_id": "" }, "HP:0031233": { "name": [ "horizontal inferior border of scapula", "horizontal inferior border of scapula" ], "alt_id": [], "def": "A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape).", "synonym": [ [ "squaring of the inferior scapulae", "squaring of the inferior scapula" ], [ "squaring of the scapula", "squaring of the scapula" ] ], "xref": [], "is_a": [ "HP:0000782" ], "is_obsolete": "", "replace_id": "" }, "HP:0031234": { "name": [ "neutrophilic infiltration of the skin", "neutrophilic infiltration of the skin" ], "alt_id": [], "def": "A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).", "synonym": [], "xref": [], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0031235": { "name": [ "predominantly epidermal neutrophilic infiltrate", "predominantly epidermal neutrophilic infiltrate" ], "alt_id": [], "def": "Collection of neutrophils in the epidermis.", "synonym": [], "xref": [], "is_a": [ "HP:0031234" ], "is_obsolete": "", "replace_id": "" }, "HP:0031236": { "name": [ "predominantly dermal neutrophilic infiltrate", "predominantly dermal neutrophilic infiltrate" ], "alt_id": [], "def": "Collection of neutrophils in the dermis.", "synonym": [], "xref": [], "is_a": [ "HP:0031234" ], "is_obsolete": "", "replace_id": "" }, "HP:0031237": { "name": [ "internally nucleated skeletal muscle fibers", "internally nucleated skeletal muscle fiber" ], "alt_id": [], "def": "An abnormality in which the nuclei of sarcomeres take on an abnormally internal localization (or in which this feature is found in an increased proportion of muscle cells).", "synonym": [ [ "internally nucleated skeletal muscle fibres", "internally nucleated skeletal muscle fibre" ] ], "xref": [], "is_a": [ "HP:0020201" ], "is_obsolete": "", "replace_id": "" }, "HP:0031238": { "name": [ "necklace skeletal muscle fibers", "necklace skeletal muscle fiber" ], "alt_id": [], "def": "A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules.", "synonym": [ [ "necklace skeletal muscle fibres", "necklace skeletal muscle fibre" ] ], "xref": [], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0031239": { "name": [ "extrafoveal choroidal neovascularization", "extrafoveal choroidal neovascularization" ], "alt_id": [], "def": "A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea.", "synonym": [], "xref": [], "is_a": [ "HP:0011506" ], "is_obsolete": "", "replace_id": "" }, "HP:0031240": { "name": [ "juxtafoveal choroidal neovascularization", "juxtafoveal choroidal neovascularization" ], "alt_id": [], "def": "A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea.", "synonym": [], "xref": [], "is_a": [ "HP:0011506" ], "is_obsolete": "", "replace_id": "" }, "HP:0031241": { "name": [ "subfoveal choroidal neovascularization", "subfoveal choroidal neovascularization" ], "alt_id": [], "def": "A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea.", "synonym": [], "xref": [], "is_a": [ "HP:0011506" ], "is_obsolete": "", "replace_id": "" }, "HP:0031242": { "name": [ "decreased circulating chylomicron concentration", "decrease circulate chylomicron concentration" ], "alt_id": [], "def": "Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.", "synonym": [ [ "decreased circulating chylomicron levels", "decrease circulate chylomicron level" ], [ "hypochylomicronemia", "hypochylomicronemia" ] ], "xref": [], "is_a": [ "HP:0010981", "HP:0031887" ], "is_obsolete": "", "replace_id": "" }, "HP:0031243": { "name": [ "decreased vldl cholesterol concentration", "decrease vldl cholesterol concentration" ], "alt_id": [], "def": "A reduction in the amount of very-low-density lipoprotein cholesterol in the blood.", "synonym": [ [ "decreased circulating very - low - density lipoprotein levels", "decreased circulate very - low - density lipoprotein level" ] ], "xref": [], "is_a": [ "HP:0010981", "HP:0031889" ], "is_obsolete": "", "replace_id": "" }, "HP:0031244": { "name": [ "swollen lip", "swell lip" ], "alt_id": [], "def": "Enlargement of the lip typically due to fluid buildup or inflammation.", "synonym": [ [ "swelling of the lip", "swelling of the lip" ] ], "xref": [], "is_a": [ "HP:0000159" ], "is_obsolete": "", "replace_id": "" }, "HP:0031245": { "name": [ "productive cough", "productive cough" ], "alt_id": [], "def": "A cough that produces phlegm or mucus.", "synonym": [ [ "cough with mucus production", "cough with mucus production" ], [ "wet cough", "wet cough" ] ], "xref": [], "is_a": [ "HP:0012735" ], "is_obsolete": "", "replace_id": "" }, "HP:0031246": { "name": [ "nonproductive cough", "nonproductive cough" ], "alt_id": [], "def": "A cough that does not produce phlegm or mucus.", "synonym": [ [ "dry cough", "dry cough" ], [ "dry coughing", "dry coughing" ] ], "xref": [], "is_a": [ "HP:0012735" ], "is_obsolete": "", "replace_id": "" }, "HP:0031247": { "name": [ "whooping cough", "whooping cough" ], "alt_id": [], "def": "A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air.", "synonym": [], "xref": [], "is_a": [ "HP:0012735" ], "is_obsolete": "", "replace_id": "" }, "HP:0031248": { "name": [ "palmar pruritus", "palmar pruritus" ], "alt_id": [], "def": "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.", "synonym": [ [ "itchy palm", "itchy palm" ] ], "xref": [], "is_a": [ "HP:0030899" ], "is_obsolete": "", "replace_id": "" }, "HP:0031249": { "name": [ "parageusia", "parageusia" ], "alt_id": [], "def": "A distortion of the sense of taste, often characterized by the sensation of a metallic taste.", "synonym": [ [ "altered sense of taste", "altered sense of taste" ], [ "dysgeusia", "dysgeusia" ], [ "metallic taste", "metallic taste" ], [ "metallic taste in mouth", "metallic taste in mouth" ] ], "xref": [], "is_a": [ "HP:0000223" ], "is_obsolete": "", "replace_id": "" }, "HP:0031250": { "name": [ "lip fissure", "lip fissure" ], "alt_id": [], "def": "A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0000159" ], "is_obsolete": "", "replace_id": "" }, "HP:0031251": { "name": [ "abnormal subclavian artery morphology", "abnormal subclavian artery morphology" ], "alt_id": [], "def": "Any anomaly of a subclavian artery.", "synonym": [], "xref": [], "is_a": [ "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:0031252": { "name": [ "dilated left subclavian artery", "dilate leave subclavian artery" ], "alt_id": [], "def": "Abnormally increased caliber of the left subclavian artery.", "synonym": [], "xref": [], "is_a": [ "HP:0031251" ], "is_obsolete": "", "replace_id": "" }, "HP:0031253": { "name": [ "anomalous origin of left subclavian artery", "anomalous origin of left subclavian artery" ], "alt_id": [], "def": "Origin of the left subclavian artery from an anomalous anatomical location.", "synonym": [], "xref": [], "is_a": [ "HP:0031251" ], "is_obsolete": "", "replace_id": "" }, "HP:0031254": { "name": [ "thalamic arteriovenous malformation", "thalamic arteriovenous malformation" ], "alt_id": [], "def": "An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus.", "synonym": [], "xref": [], "is_a": [ "HP:0010663" ], "is_obsolete": "", "replace_id": "" }, "HP:0031255": { "name": [ "hypothalamic arteriovenous malformation", "hypothalamic arteriovenous malformation" ], "alt_id": [], "def": "An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus.", "synonym": [], "xref": [], "is_a": [ "HP:0012286" ], "is_obsolete": "", "replace_id": "" }, "HP:0031256": { "name": [ "optic nerve arteriovenous malformation", "optic nerve arteriovenous malformation" ], "alt_id": [], "def": "An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve.", "synonym": [], "xref": [], "is_a": [ "HP:0000587" ], "is_obsolete": "", "replace_id": "" }, "HP:0031257": { "name": [ "arteriovenous malformation of the maxilla", "arteriovenous malformation of the maxilla" ], "alt_id": [], "def": "An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla.", "synonym": [], "xref": [], "is_a": [ "HP:0000326" ], "is_obsolete": "", "replace_id": "" }, "HP:0031258": { "name": [ "delirium", "delirium" ], "alt_id": [], "def": "A state of sudden and severe confusion.", "synonym": [], "xref": [], "is_a": [ "HP:0001289" ], "is_obsolete": "", "replace_id": "" }, "HP:0031259": { "name": [ "oophoritis", "oophoritis" ], "alt_id": [], "def": "An inflammation of the ovary or ovaries.", "synonym": [ [ "inflammed ovary", "inflammed ovary" ] ], "xref": [], "is_a": [ "HP:0031065" ], "is_obsolete": "", "replace_id": "" }, "HP:0031260": { "name": [ "triangular tibia", "triangular tibia" ], "alt_id": [], "def": "A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally.", "synonym": [], "xref": [], "is_a": [ "HP:0002992" ], "is_obsolete": "", "replace_id": "" }, "HP:0031261": { "name": [ "bladder polyp", "bladder polyp" ], "alt_id": [], "def": "An abnormal growth that projects from the mucous membrane of the urinary bladder.", "synonym": [], "xref": [], "is_a": [ "HP:0025487" ], "is_obsolete": "", "replace_id": "" }, "HP:0031263": { "name": [ "abnormal renal corpuscle morphology", "abnormal renal corpuscle morphology" ], "alt_id": [], "def": "Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.", "synonym": [], "xref": [], "is_a": [ "HP:0011035", "HP:0012575" ], "is_obsolete": "", "replace_id": "" }, "HP:0031264": { "name": [ "abnormal bowman capsule morphology", "abnormal bowman capsule morphology" ], "alt_id": [], "def": "A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.", "synonym": [ [ "abnormal morphology of bowman capsule", "abnormal morphology of bowman capsule" ], [ "abnormal morphology of bowman 's capsule", "abnormal morphology of bowman 's capsule" ], [ "abnormal renal glomerular capsule morphology", "abnormal renal glomerular capsule morphology" ] ], "xref": [], "is_a": [ "HP:0031263" ], "is_obsolete": "", "replace_id": "" }, "HP:0031265": { "name": [ "abnormal glomerular visceral epithelial cell morphology", "abnormal glomerular visceral epithelial cell morphology" ], "alt_id": [], "def": "Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary.", "synonym": [ [ "abnormal podocyte morphology", "abnormal podocyte morphology" ], [ "abnormal visceral epithelial cell morphology", "abnormal visceral epithelial cell morphology" ] ], "xref": [], "is_a": [ "HP:0031264" ], "is_obsolete": "", "replace_id": "" }, "HP:0031266": { "name": [ "podocyte foot process effacement", "podocyte foot process effacement" ], "alt_id": [], "def": "An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.", "synonym": [ [ "loss of primary podocyte processes", "loss of primary podocyte process" ] ], "xref": [], "is_a": [ "HP:0031265" ], "is_obsolete": "", "replace_id": "" }, "HP:0031267": { "name": [ "abnormal cd69 upregulation upon tcr activation", "abnormal cd69 upregulation upon tcr activation" ], "alt_id": [], "def": "Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus.", "synonym": [], "xref": [], "is_a": [ "HP:0410035" ], "is_obsolete": "", "replace_id": "" }, "HP:0031268": { "name": [ "decreased cd69 upregulation upon tcr activation", "decrease cd69 upregulation upon tcr activation" ], "alt_id": [], "def": "Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR).", "synonym": [], "xref": [], "is_a": [ "HP:0031267" ], "is_obsolete": "", "replace_id": "" }, "HP:0031269": { "name": [ "abnormal cd25 upregulation upon tcr activation", "abnormal cd25 upregulation upon tcr activation" ], "alt_id": [], "def": "Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression.", "synonym": [], "xref": [], "is_a": [ "HP:0410035" ], "is_obsolete": "", "replace_id": "" }, "HP:0031270": { "name": [ "decreased cd25 upregulation upon tcr activation", "decrease cd25 upregulation upon tcr activation" ], "alt_id": [], "def": "Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR).", "synonym": [ [ "poor cd25 upregulation upon tcr activation", "poor cd25 upregulation upon tcr activation" ], [ "reduced il2ra upregulation upon tcr activation", "reduce il2ra upregulation upon tcr activation" ] ], "xref": [], "is_a": [ "HP:0031269" ], "is_obsolete": "", "replace_id": "" }, "HP:0031271": { "name": [ "absent ankle pulse", "absent ankle pulse" ], "alt_id": [], "def": "The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination.", "synonym": [], "xref": [], "is_a": [ "HP:0032554" ], "is_obsolete": "", "replace_id": "" }, "HP:0031272": { "name": [ "pulmonary arterial atherosclerosis", "pulmonary arterial atherosclerosis" ], "alt_id": [], "def": "Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery.", "synonym": [], "xref": [], "is_a": [ "HP:0030966" ], "is_obsolete": "", "replace_id": "" }, "HP:0031273": { "name": [ "shock", "shock" ], "alt_id": [], "def": "The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.", "synonym": [], "xref": [], "is_a": [ "HP:0011025" ], "is_obsolete": "", "replace_id": "" }, "HP:0031274": { "name": [ "hypovolemic shock", "hypovolemic shock" ], "alt_id": [], "def": "A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures.", "synonym": [], "xref": [], "is_a": [ "HP:0031273" ], "is_obsolete": "", "replace_id": "" }, "HP:0031275": { "name": [ "distributive shock", "distributive shock" ], "alt_id": [], "def": "A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage", "synonym": [], "xref": [], "is_a": [ "HP:0031273" ], "is_obsolete": "", "replace_id": "" }, "HP:0031276": { "name": [ "obstructive shock", "obstructive shock" ], "alt_id": [], "def": "A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism).", "synonym": [], "xref": [], "is_a": [ "HP:0031273" ], "is_obsolete": "", "replace_id": "" }, "HP:0031278": { "name": [ "abnormal thoracic duct morphology", "abnormal thoracic duct morphology" ], "alt_id": [], "def": "Any structural anomaly of the thoracic duct.", "synonym": [], "xref": [], "is_a": [ "HP:0100766" ], "is_obsolete": "", "replace_id": "" }, "HP:0031279": { "name": [ "abnormal response to gonadotropin - releasing hormone stimulation test", "abnormal response to gonadotropin - release hormone stimulation test" ], "alt_id": [], "def": "An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).", "synonym": [ [ "abnormal response to gnrh stimulation test", "abnormal response to gnrh stimulation test" ] ], "xref": [], "is_a": [ "HP:0031073" ], "is_obsolete": "", "replace_id": "" }, "HP:0031280": { "name": [ "increased lh response to gonadotropin - releasing hormone stimulation test", "increase lh response to gonadotropin - release hormone stimulation test" ], "alt_id": [], "def": "An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test.", "synonym": [], "xref": [], "is_a": [ "HP:0031279" ], "is_obsolete": "", "replace_id": "" }, "HP:0031281": { "name": [ "sialadenitis", "sialadenitis" ], "alt_id": [], "def": "Inflammation of a salivary gland.", "synonym": [], "xref": [], "is_a": [ "HP:0010286" ], "is_obsolete": "", "replace_id": "" }, "HP:0031282": { "name": [ "malalignment of the great toenail", "malalignment of the great toenail" ], "alt_id": [], "def": "A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.", "synonym": [], "xref": [], "is_a": [ "HP:0008388" ], "is_obsolete": "", "replace_id": "" }, "HP:0031283": { "name": [ "tufted hairs", "tufted hair" ], "alt_id": [], "def": "The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.", "synonym": [], "xref": [], "is_a": [ "HP:0011360" ], "is_obsolete": "", "replace_id": "" }, "HP:0031284": { "name": [ "flushing", "flush" ], "alt_id": [], "def": "Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.", "synonym": [], "xref": [], "is_a": [ "HP:0011354" ], "is_obsolete": "", "replace_id": "" }, "HP:0031285": { "name": [ "abnormal perifollicular morphology", "abnormal perifollicular morphology" ], "alt_id": [], "def": "Any structural anomaly in the areas surrounding the hair follicles.", "synonym": [], "xref": [], "is_a": [ "HP:0000951" ], "is_obsolete": "", "replace_id": "" }, "HP:0031286": { "name": [ "perifollicular erythema", "perifollicular erythema" ], "alt_id": [], "def": "Redness surrounding the hair follicles.", "synonym": [], "xref": [], "is_a": [ "HP:0031285" ], "is_obsolete": "", "replace_id": "" }, "HP:0031287": { "name": [ "seborrheic keratosis", "seborrheic keratosis" ], "alt_id": [], "def": "A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look.", "synonym": [ [ "basal cell papilloma", "basal cell papilloma" ], [ "seborrheic verruca", "seborrheic verruca" ], [ "senile wart", "senile wart" ] ], "xref": [], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0031288": { "name": [ "cobblestone - like hyperkeratosis", "cobblestone - like hyperkeratosis" ], "alt_id": [], "def": "The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.", "synonym": [], "xref": [], "is_a": [ "HP:0000962" ], "is_obsolete": "", "replace_id": "" }, "HP:0031289": { "name": [ "white papule", "white papule" ], "alt_id": [], "def": "A papule with white color.", "synonym": [], "xref": [], "is_a": [ "HP:0200034" ], "is_obsolete": "", "replace_id": "" }, "HP:0031290": { "name": [ "tuberous xanthoma", "tuberous xanthoma" ], "alt_id": [], "def": "A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.", "synonym": [], "xref": [], "is_a": [ "HP:0000991" ], "is_obsolete": "", "replace_id": "" }, "HP:0031291": { "name": [ "ichthyosis follicularis", "ichthyosis follicularis" ], "alt_id": [], "def": "Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.", "synonym": [], "xref": [], "is_a": [ "HP:0008064" ], "is_obsolete": "", "replace_id": "" }, "HP:0031292": { "name": [ "cutaneous abscess", "cutaneous abscess" ], "alt_id": [], "def": "A circumscribed area of pus or necrotic debris in the skin.", "synonym": [ [ "skin abscess", "skin abscess" ] ], "xref": [], "is_a": [ "HP:0011123", "HP:0025615" ], "is_obsolete": "", "replace_id": "" }, "HP:0031293": { "name": [ "digital pitting scar", "digital pitting scar" ], "alt_id": [], "def": "Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.", "synonym": [], "xref": [], "is_a": [ "HP:0100276" ], "is_obsolete": "", "replace_id": "" }, "HP:0031294": { "name": [ "hypoplastic right atrium", "hypoplastic right atrium" ], "alt_id": [], "def": "Underdeveloped, small right heart atrium.", "synonym": [], "xref": [], "is_a": [ "HP:0025580" ], "is_obsolete": "", "replace_id": "" }, "HP:0031295": { "name": [ "left atrial enlargement", "leave atrial enlargement" ], "alt_id": [], "def": "Increase in size of the left atrium.", "synonym": [ [ "enlarged heart left atrium", "enlarged heart leave atrium" ] ], "xref": [ "Fyler:3011", "Fyler:3020" ], "is_a": [ "HP:0025579" ], "is_obsolete": "", "replace_id": "" }, "HP:0031296": { "name": [ "atrial septal hypertrophy", "atrial septal hypertrophy" ], "alt_id": [], "def": "An abnormal increase in the thickness of the atrial septum.", "synonym": [], "xref": [], "is_a": [ "HP:0005120" ], "is_obsolete": "", "replace_id": "" }, "HP:0031297": { "name": [ "unroofed coronary sinus", "unroofed coronary sinus" ], "alt_id": [], "def": "Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion.", "synonym": [], "xref": [], "is_a": [ "HP:0001631", "HP:0011642" ], "is_obsolete": "", "replace_id": "" }, "HP:0031298": { "name": [ "coronary sinus enlargement", "coronary sinus enlargement" ], "alt_id": [], "def": "Abnormal increase in size of the coronary sinus.", "synonym": [ [ "coronary sinus dilatation", "coronary sinus dilatation" ], [ "enlarged coronary sinus", "enlarge coronary sinus" ] ], "xref": [], "is_a": [ "HP:0011642" ], "is_obsolete": "", "replace_id": "" }, "HP:0031299": { "name": [ "elevated left atrial pressure", "elevate leave atrial pressure" ], "alt_id": [], "def": "An abnormal increase in magnitude of the pressure in the left atrium.", "synonym": [], "xref": [], "is_a": [ "HP:0025443" ], "is_obsolete": "", "replace_id": "" }, "HP:0031300": { "name": [ "abnormal circulating properdin level", "abnormal circulate properdin level" ], "alt_id": [], "def": "A deviation from the normal concentration of properdin in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0025465" ], "is_obsolete": "", "replace_id": "" }, "HP:0031301": { "name": [ "peripheral arterial calcification", "peripheral arterial calcification" ], "alt_id": [], "def": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall.", "synonym": [ [ "peripheral artery calcification", "peripheral artery calcification" ] ], "xref": [], "is_a": [ "HP:0003207" ], "is_obsolete": "", "replace_id": "" }, "HP:0031302": { "name": [ "lower extremity peripheral arterial calcification", "low extremity peripheral arterial calcification" ], "alt_id": [], "def": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg.", "synonym": [ [ "lower extremity peripheral artery calcification", "low extremity peripheral artery calcification" ] ], "xref": [], "is_a": [ "HP:0031301" ], "is_obsolete": "", "replace_id": "" }, "HP:0031303": { "name": [ "femoral arterial calcification", "femoral arterial calcification" ], "alt_id": [], "def": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery.", "synonym": [], "xref": [], "is_a": [ "HP:0031302" ], "is_obsolete": "", "replace_id": "" }, "HP:0031304": { "name": [ "iliac arterial calcification", "iliac arterial calcification" ], "alt_id": [], "def": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery.", "synonym": [], "xref": [], "is_a": [ "HP:0031302" ], "is_obsolete": "", "replace_id": "" }, "HP:0031305": { "name": [ "tibial arterial calcification", "tibial arterial calcification" ], "alt_id": [], "def": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery.", "synonym": [], "xref": [], "is_a": [ "HP:0031302" ], "is_obsolete": "", "replace_id": "" }, "HP:0031306": { "name": [ "intracranial arterial calcification", "intracranial arterial calcification" ], "alt_id": [], "def": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).", "synonym": [], "xref": [], "is_a": [ "HP:0003207" ], "is_obsolete": "", "replace_id": "" }, "HP:0031307": { "name": [ "internal carotid artery calcification", "internal carotid artery calcification" ], "alt_id": [], "def": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery.", "synonym": [], "xref": [], "is_a": [ "HP:0031306", "HP:0031314" ], "is_obsolete": "", "replace_id": "" }, "HP:0031308": { "name": [ "vertebral artery calcification", "vertebral artery calcification" ], "alt_id": [], "def": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery.", "synonym": [], "xref": [], "is_a": [ "HP:0031306" ], "is_obsolete": "", "replace_id": "" }, "HP:0031309": { "name": [ "cerebral artery calcification", "cerebral artery calcification" ], "alt_id": [], "def": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery.", "synonym": [], "xref": [], "is_a": [ "HP:0031306" ], "is_obsolete": "", "replace_id": "" }, "HP:0031310": { "name": [ "basilar artery calcification", "basilar artery calcification" ], "alt_id": [], "def": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery.", "synonym": [], "xref": [], "is_a": [ "HP:0031306" ], "is_obsolete": "", "replace_id": "" }, "HP:0031311": { "name": [ "middle cerebral artery calcification", "middle cerebral artery calcification" ], "alt_id": [], "def": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery.", "synonym": [], "xref": [], "is_a": [ "HP:0031309" ], "is_obsolete": "", "replace_id": "" }, "HP:0031313": { "name": [ "abdominal aortic calcification", "abdominal aortic calcification" ], "alt_id": [], "def": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta.", "synonym": [], "xref": [], "is_a": [ "HP:0004963" ], "is_obsolete": "", "replace_id": "" }, "HP:0031314": { "name": [ "carotid artery calcification", "carotid artery calcification" ], "alt_id": [], "def": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery.", "synonym": [], "xref": [], "is_a": [ "HP:0003207" ], "is_obsolete": "", "replace_id": "" }, "HP:0031315": { "name": [ "external carotid artery calcification", "external carotid artery calcification" ], "alt_id": [], "def": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery.", "synonym": [], "xref": [], "is_a": [ "HP:0031314" ], "is_obsolete": "", "replace_id": "" }, "HP:0031316": { "name": [ "abnormal ventricular myocardium morphology", "abnormal ventricular myocardium morphology" ], "alt_id": [], "def": "A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle.", "synonym": [], "xref": [], "is_a": [ "HP:0001637" ], "is_obsolete": "", "replace_id": "" }, "HP:0031317": { "name": [ "fatty replacement of ventricular myocardial tissue", "fatty replacement of ventricular myocardial tissue" ], "alt_id": [], "def": "Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue.", "synonym": [ [ "fatty infiltration of cardiac ventricle", "fatty infiltration of cardiac ventricle" ], [ "intramyocardial fat infiltration", "intramyocardial fat infiltration" ] ], "xref": [], "is_a": [ "HP:0001637" ], "is_obsolete": "", "replace_id": "" }, "HP:0031318": { "name": [ "myofiber disarray", "myofiber disarray" ], "alt_id": [], "def": "A nonparallel arrangement of cardiac myocytes.", "synonym": [ [ "myocardial fiber disarray", "myocardial fiber disarray" ], [ "myocardial fibre disarray", "myocardial fibre disarray" ] ], "xref": [], "is_a": [ "HP:0001637" ], "is_obsolete": "", "replace_id": "" }, "HP:0031319": { "name": [ "cardiomyocyte hypertrophy", "cardiomyocyte hypertrophy" ], "alt_id": [], "def": "An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.", "synonym": [ [ "myocyte cellular hypertrophy", "myocyte cellular hypertrophy" ] ], "xref": [], "is_a": [ "HP:0031331" ], "is_obsolete": "", "replace_id": "" }, "HP:0031320": { "name": [ "cardiomyocyte mitochondrial proliferation", "cardiomyocyte mitochondrial proliferation" ], "alt_id": [], "def": "An abnormal increase in the number of mitochondria per cardiac myocyte.", "synonym": [], "xref": [], "is_a": [ "HP:0031331" ], "is_obsolete": "", "replace_id": "" }, "HP:0031321": { "name": [ "myocardial immune cell infiltration", "myocardial immune cell infiltration" ], "alt_id": [], "def": "An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium).", "synonym": [], "xref": [], "is_a": [ "HP:0001637" ], "is_obsolete": "", "replace_id": "" }, "HP:0031322": { "name": [ "myocardial lymphocytic infiltration", "myocardial lymphocytic infiltration" ], "alt_id": [], "def": "An increase in the number of lymphocytes in myocardial tissue.", "synonym": [], "xref": [], "is_a": [ "HP:0031321" ], "is_obsolete": "", "replace_id": "" }, "HP:0031323": { "name": [ "myocardial eosinophilic infiltration", "myocardial eosinophilic infiltration" ], "alt_id": [], "def": "An increase in the number of eosinophils in myocardial tissue.", "synonym": [], "xref": [], "is_a": [ "HP:0031321" ], "is_obsolete": "", "replace_id": "" }, "HP:0031324": { "name": [ "myocardial multinucleated giant cells", "myocardial multinucleated giant cell" ], "alt_id": [], "def": "The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.", "synonym": [], "xref": [], "is_a": [ "HP:0031321" ], "is_obsolete": "", "replace_id": "" }, "HP:0031325": { "name": [ "myocardial granulomatous infiltrates", "myocardial granulomatous infiltrates" ], "alt_id": [], "def": "The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium.", "synonym": [], "xref": [], "is_a": [ "HP:0031321" ], "is_obsolete": "", "replace_id": "" }, "HP:0031326": { "name": [ "monoclonal light chain cardiac amyloidosis", "monoclonal light chain cardiac amyloidosis" ], "alt_id": [], "def": "A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.", "synonym": [], "xref": [], "is_a": [ "HP:0030843" ], "is_obsolete": "", "replace_id": "" }, "HP:0031327": { "name": [ "transthyretin cardiac amyloidosis", "transthyretin cardiac amyloidosis" ], "alt_id": [], "def": "A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.", "synonym": [ [ "ttr cardiac amyloidosis", "ttr cardiac amyloidosis" ] ], "xref": [], "is_a": [ "HP:0030843" ], "is_obsolete": "", "replace_id": "" }, "HP:0031328": { "name": [ "perivascular cardiac fibrosis", "perivascular cardiac fibrosis" ], "alt_id": [], "def": "A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.", "synonym": [], "xref": [], "is_a": [ "HP:0001685", "HP:0032200" ], "is_obsolete": "", "replace_id": "" }, "HP:0031329": { "name": [ "interstitial cardiac fibrosis", "interstitial cardiac fibrosis" ], "alt_id": [], "def": "A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.", "synonym": [], "xref": [], "is_a": [ "HP:0001685" ], "is_obsolete": "", "replace_id": "" }, "HP:0031330": { "name": [ "perivascular myocardial immune cell infiltration", "perivascular myocardial immune cell infiltration" ], "alt_id": [], "def": "An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.", "synonym": [], "xref": [], "is_a": [ "HP:0031321" ], "is_obsolete": "", "replace_id": "" }, "HP:0031331": { "name": [ "abnormal cardiomyocyte morphology", "abnormal cardiomyocyte morphology" ], "alt_id": [], "def": "Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.", "synonym": [ [ "abnormal cardiac muscle cell morphology", "abnormal cardiac muscle cell morphology" ] ], "xref": [], "is_a": [ "HP:0001627", "HP:0025461" ], "is_obsolete": "", "replace_id": "" }, "HP:0031332": { "name": [ "cardiomyocyte degeneration", "cardiomyocyte degeneration" ], "alt_id": [], "def": "Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.", "synonym": [], "xref": [], "is_a": [ "HP:0031331" ], "is_obsolete": "", "replace_id": "" }, "HP:0031333": { "name": [ "myocardial sarcomeric disarray", "myocardial sarcomeric disarray" ], "alt_id": [], "def": "A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.", "synonym": [ [ "myocardial sarcomere disarray", "myocardial sarcomere disarray" ] ], "xref": [], "is_a": [ "HP:0031331" ], "is_obsolete": "", "replace_id": "" }, "HP:0031334": { "name": [ "cardiomyocyte inclusion bodies", "cardiomyocyte inclusion body" ], "alt_id": [], "def": "Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.", "synonym": [], "xref": [], "is_a": [ "HP:0031331" ], "is_obsolete": "", "replace_id": "" }, "HP:0031335": { "name": [ "abnormal cardiomyocyte mitochondrial morphology", "abnormal cardiomyocyte mitochondrial morphology" ], "alt_id": [], "def": "An anomaly of the structure of mitochondria within cardiomyocytes.", "synonym": [], "xref": [], "is_a": [ "HP:0031331" ], "is_obsolete": "", "replace_id": "" }, "HP:0031336": { "name": [ "intranuclear cardiomyocyte mitochondria", "intranuclear cardiomyocyte mitochondrion" ], "alt_id": [], "def": "Abnormal localization of mitochondria within the nuclei of cardiomyocytes.", "synonym": [], "xref": [], "is_a": [ "HP:0031335" ], "is_obsolete": "", "replace_id": "" }, "HP:0031337": { "name": [ "abnormal cardiomyocyte connexin43 staining", "abnormal cardiomyocyte connexin43 stain" ], "alt_id": [], "def": "Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases.", "synonym": [], "xref": [], "is_a": [ "HP:0031331" ], "is_obsolete": "", "replace_id": "" }, "HP:0031338": { "name": [ "abnormal cardiomyocyte plakoglobin staining", "abnormal cardiomyocyte plakoglobin stain" ], "alt_id": [], "def": "Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes.", "synonym": [], "xref": [], "is_a": [ "HP:0031331" ], "is_obsolete": "", "replace_id": "" }, "HP:0031339": { "name": [ "abnormal cadiomyocyte dystrophin staining", "abnormal cadiomyocyte dystrophin stain" ], "alt_id": [], "def": "Anomalous staining of dystrophin in cardiomyocytes.", "synonym": [], "xref": [], "is_a": [ "HP:0031331" ], "is_obsolete": "", "replace_id": "" }, "HP:0031340": { "name": [ "abnormal lysosomal morphology", "abnormal lysosomal morphology" ], "alt_id": [], "def": "A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids.", "synonym": [], "xref": [], "is_a": [ "HP:0025461" ], "is_obsolete": "", "replace_id": "" }, "HP:0031341": { "name": [ "gastric arteriovenous malformation", "gastric arteriovenous malformation" ], "alt_id": [], "def": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach.", "synonym": [], "xref": [], "is_a": [ "HP:0002629" ], "is_obsolete": "", "replace_id": "" }, "HP:0031342": { "name": [ "duodenal arteriovenous malformation", "duodenal arteriovenous malformation" ], "alt_id": [], "def": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum.", "synonym": [], "xref": [], "is_a": [ "HP:0002629" ], "is_obsolete": "", "replace_id": "" }, "HP:0031343": { "name": [ "jejunal arteriovenous malformation", "jejunal arteriovenous malformation" ], "alt_id": [], "def": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum.", "synonym": [], "xref": [], "is_a": [ "HP:0002629" ], "is_obsolete": "", "replace_id": "" }, "HP:0031344": { "name": [ "pelvic arteriovenous malformation", "pelvic arteriovenous malformation" ], "alt_id": [], "def": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis.", "synonym": [], "xref": [], "is_a": [ "HP:0100026" ], "is_obsolete": "", "replace_id": "" }, "HP:0031345": { "name": [ "colonic arteriovenous malformation", "colonic arteriovenous malformation" ], "alt_id": [], "def": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon.", "synonym": [], "xref": [], "is_a": [ "HP:0002629" ], "is_obsolete": "", "replace_id": "" }, "HP:0031346": { "name": [ "rectal arteriovenous malformation", "rectal arteriovenous malformation" ], "alt_id": [], "def": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum.", "synonym": [], "xref": [], "is_a": [ "HP:0002629" ], "is_obsolete": "", "replace_id": "" }, "HP:0031347": { "name": [ "uterine arteriovenous malformation", "uterine arteriovenous malformation" ], "alt_id": [], "def": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus.", "synonym": [], "xref": [], "is_a": [ "HP:0100026" ], "is_obsolete": "", "replace_id": "" }, "HP:0031348": { "name": [ "dextrotransposition of the great arteries", "dextrotransposition of the great artery" ], "alt_id": [], "def": "A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.", "synonym": [ [ "d - loop transposition of the great arteries", "d - loop transposition of the great artery" ] ], "xref": [ "Fyler:0700", "Fyler:700" ], "is_a": [ "HP:0001669" ], "is_obsolete": "", "replace_id": "" }, "HP:0031349": { "name": [ "levotransposition of the great arteries", "levotransposition of the great artery" ], "alt_id": [], "def": "A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery.", "synonym": [], "xref": [], "is_a": [ "HP:0001669" ], "is_obsolete": "", "replace_id": "" }, "HP:0031350": { "name": [ "cardiac sarcoma", "cardiac sarcoma" ], "alt_id": [], "def": "A malignant soft tissue neoplasm that arises from the heart.", "synonym": [], "xref": [], "is_a": [ "HP:0100544" ], "is_obsolete": "", "replace_id": "" }, "HP:0031351": { "name": [ "calcified amorphous tumor of the heart", "calcify amorphous tumor of the heart" ], "alt_id": [], "def": "A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.", "synonym": [ [ "calcified amorphous tumour of the heart", "calcify amorphous tumour of the heart" ] ], "xref": [], "is_a": [ "HP:0100544" ], "is_obsolete": "", "replace_id": "" }, "HP:0031352": { "name": [ "chest tightness", "chest tightness" ], "alt_id": [], "def": "An unpleasant sensation of tightness or pressure in the chest.", "synonym": [ [ "chest distress", "chest distress" ], [ "tightness in chest", "tightness in chest" ], [ "tightness of chest", "tightness of chest" ] ], "xref": [], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0031353": { "name": [ "otitis media with effusion", "otitis medium with effusion" ], "alt_id": [], "def": "Otitis media characterized by thick or sticky fluid behind the tympanic membrane.", "synonym": [ [ "fluid behind eardrum", "fluid behind eardrum" ] ], "xref": [], "is_a": [ "HP:0000388" ], "is_obsolete": "", "replace_id": "" }, "HP:0031354": { "name": [ "sleep onset insomnia", "sleep onset insomnia" ], "alt_id": [], "def": "Difficulty initiating sleep, that is, increased sleep onset latency.", "synonym": [ [ "difficulty falling asleep", "difficulty fall asleep" ] ], "xref": [], "is_a": [ "HP:0100785" ], "is_obsolete": "", "replace_id": "" }, "HP:0031355": { "name": [ "maintenance insomnia", "maintenance insomnia" ], "alt_id": [], "def": "Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep.", "synonym": [ [ "waking up several times during the night", "wake up several time during the night" ] ], "xref": [], "is_a": [ "HP:0100785" ], "is_obsolete": "", "replace_id": "" }, "HP:0031356": { "name": [ "terminal insomnia", "terminal insomnia" ], "alt_id": [], "def": "A type of insomnia characterized by waking up (too) early in the morning.", "synonym": [ [ "late insomnia", "late insomnia" ] ], "xref": [], "is_a": [ "HP:0100785" ], "is_obsolete": "", "replace_id": "" }, "HP:0031357": { "name": [ "glomeruloid hemangioma", "glomeruloid hemangioma" ], "alt_id": [], "def": "A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli.", "synonym": [], "xref": [], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0031358": { "name": [ "vegetative state", "vegetative state" ], "alt_id": [], "def": "Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities).", "synonym": [], "xref": [], "is_a": [ "HP:0004372" ], "is_obsolete": "", "replace_id": "" }, "HP:0031359": { "name": [ "cutaneous sclerotic plaque", "cutaneous sclerotic plaque" ], "alt_id": [], "def": "A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening).", "synonym": [], "xref": [], "is_a": [ "HP:0200035" ], "is_obsolete": "", "replace_id": "" }, "HP:0031360": { "name": [ "yellow skin plaque", "yellow skin plaque" ], "alt_id": [], "def": "A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color.", "synonym": [], "xref": [], "is_a": [ "HP:0200035" ], "is_obsolete": "", "replace_id": "" }, "HP:0031361": { "name": [ "zebra bodies", "zebra body" ], "alt_id": [], "def": "Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images.", "synonym": [], "xref": [], "is_a": [ "HP:0031340" ], "is_obsolete": "", "replace_id": "" }, "HP:0031362": { "name": [ "sex - limited autosomal recessive inheritance", "sex - limited autosomal recessive inheritance" ], "alt_id": [], "def": "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes in a sex-specific manner (i.e. only in males or only in females).", "synonym": [], "xref": [], "is_a": [ "HP:0000007" ], "is_obsolete": "", "replace_id": "" }, "HP:0031363": { "name": [ "palpable purpura", "palpable purpura" ], "alt_id": [], "def": "A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).", "synonym": [], "xref": [], "is_a": [ "HP:0000979" ], "is_obsolete": "", "replace_id": "" }, "HP:0031364": { "name": [ "ecchymosis", "ecchymosis" ], "alt_id": [], "def": "A purpuric lesion that is larger than 1 cm in diameter.", "synonym": [ [ "ecchymoses", "ecchymosis" ] ], "xref": [], "is_a": [ "HP:0031365" ], "is_obsolete": "", "replace_id": "" }, "HP:0031365": { "name": [ "macular purpura", "macular purpura" ], "alt_id": [], "def": "Purpura that is flat (non-palpable, not raised).", "synonym": [ [ "flat purpura", "flat purpura" ] ], "xref": [], "is_a": [ "HP:0000979" ], "is_obsolete": "", "replace_id": "" }, "HP:0031366": { "name": [ "palate neoplasm", "palate neoplasm" ], "alt_id": [], "def": "A neoplasm that affects the hard palate, soft palate, or uvula.", "synonym": [], "xref": [], "is_a": [ "HP:0100649" ], "is_obsolete": "", "replace_id": "" }, "HP:0031367": { "name": [ "metaphyseal striations", "metaphyseal striation" ], "alt_id": [], "def": "Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).", "synonym": [ [ "striated metaphysis", "striate metaphysis" ] ], "xref": [], "is_a": [ "HP:0000944" ], "is_obsolete": "", "replace_id": "" }, "HP:0031368": { "name": [ "intestinal perforation", "intestinal perforation" ], "alt_id": [], "def": "A hole (perforation) in the wall of the intestine.", "synonym": [], "xref": [], "is_a": [ "HP:0002242" ], "is_obsolete": "", "replace_id": "" }, "HP:0031369": { "name": [ "colon perforation", "colon perforation" ], "alt_id": [], "def": "A hole (perforation) in the wall of the colon.", "synonym": [ [ "perforation of the colon", "perforation of the colon" ] ], "xref": [], "is_a": [ "HP:0031368" ], "is_obsolete": "", "replace_id": "" }, "HP:0031370": { "name": [ "small intestinal perforation", "small intestinal perforation" ], "alt_id": [], "def": "A hole (perforation) in the wall of the small intestine.", "synonym": [], "xref": [], "is_a": [ "HP:0031368" ], "is_obsolete": "", "replace_id": "" }, "HP:0031371": { "name": [ "rectal perforation", "rectal perforation" ], "alt_id": [], "def": "A hole (perforation) in the wall of the rectum.", "synonym": [], "xref": [], "is_a": [ "HP:0031368" ], "is_obsolete": "", "replace_id": "" }, "HP:0031372": { "name": [ "cold paresis", "cold paresis" ], "alt_id": [], "def": "Increased muscle weakness upon exposure to cold temperatures.", "synonym": [], "xref": [], "is_a": [ "HP:0001324" ], "is_obsolete": "", "replace_id": "" }, "HP:0031373": { "name": [ "stiff tongue", "stiff tongue" ], "alt_id": [], "def": "Increased rigidity and reduced mobility of the tongue.", "synonym": [ [ "tongue stiffness", "tongue stiffness" ] ], "xref": [], "is_a": [ "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0031374": { "name": [ "ankle weakness", "ankle weakness" ], "alt_id": [], "def": "Reduced strength of the muscles that lift or otherwise move the foot at the ankle.", "synonym": [], "xref": [], "is_a": [ "HP:0001324" ], "is_obsolete": "", "replace_id": "" }, "HP:0031375": { "name": [ "refractory", "refractory" ], "alt_id": [], "def": "Applies to a sign or symptom that is difficult to treat or cure.", "synonym": [], "xref": [], "is_a": [ "HP:0012823" ], "is_obsolete": "", "replace_id": "" }, "HP:0031377": { "name": [ "abnormal cell proliferation", "abnormal cell proliferation" ], "alt_id": [], "def": "Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population.", "synonym": [], "xref": [], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:0031378": { "name": [ "abnormal lymphocyte proliferation", "abnormal lymphocyte proliferation" ], "alt_id": [], "def": "Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.", "synonym": [], "xref": [], "is_a": [ "HP:0031377", "HP:0031409" ], "is_obsolete": "", "replace_id": "" }, "HP:0031379": { "name": [ "abnormal t cell proliferation", "abnormal t cell proliferation" ], "alt_id": [], "def": "Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population.", "synonym": [], "xref": [], "is_a": [ "HP:0011840", "HP:0031378" ], "is_obsolete": "", "replace_id": "" }, "HP:0031380": { "name": [ "abnormal b cell proliferation", "abnormal b cell proliferation" ], "alt_id": [], "def": "Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population.", "synonym": [], "xref": [], "is_a": [ "HP:0031378" ], "is_obsolete": "", "replace_id": "" }, "HP:0031381": { "name": [ "decreased lymphocyte proliferation in response to mitogen", "decrease lymphocyte proliferation in response to mitogen" ], "alt_id": [], "def": "A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).", "synonym": [ [ "reduced lymphocyte proliferation to mitogen", "reduce lymphocyte proliferation to mitogen" ] ], "xref": [], "is_a": [ "HP:0031378" ], "is_obsolete": "", "replace_id": "" }, "HP:0031382": { "name": [ "decreased lymphocyte proliferation in response to anti - cd3", "decrease lymphocyte proliferation in response to anti - cd3" ], "alt_id": [], "def": "A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.", "synonym": [ [ "defective lymphocyte proliferation to anti - cd3", "defective lymphocyte proliferation to anti - cd3" ], [ "defective proliferation of lymphocytes following anti - cd3 stimulation", "defective proliferation of lymphocyte follow anti - cd3 stimulation" ] ], "xref": [], "is_a": [ "HP:0031381" ], "is_obsolete": "", "replace_id": "" }, "HP:0031383": { "name": [ "abnormal lymphocyte surface marker expression", "abnormal lymphocyte surface marker expression" ], "alt_id": [], "def": "Abnormal amount of a protein that is normally present on the cell surface of lymphocytes.", "synonym": [], "xref": [], "is_a": [ "HP:0010978" ], "is_obsolete": "", "replace_id": "" }, "HP:0031384": { "name": [ "reduced t cell cd40 expression", "reduce t cell cd40 expression" ], "alt_id": [], "def": "A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes.", "synonym": [], "xref": [], "is_a": [ "HP:0031383" ], "is_obsolete": "", "replace_id": "" }, "HP:0031385": { "name": [ "megakaryocyte nucleus hypolobulation", "megakaryocyte nucleus hypolobulation" ], "alt_id": [], "def": "The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.", "synonym": [], "xref": [], "is_a": [ "HP:0012143" ], "is_obsolete": "", "replace_id": "" }, "HP:0031386": { "name": [ "increased micromegakaryocyte count", "increase micromegakaryocyte count" ], "alt_id": [], "def": "The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter.", "synonym": [], "xref": [], "is_a": [ "HP:0012143" ], "is_obsolete": "", "replace_id": "" }, "HP:0031387": { "name": [ "increased multinucleated megakaryocyte count", "increase multinucleated megakaryocyte count" ], "alt_id": [], "def": "The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow.", "synonym": [], "xref": [], "is_a": [ "HP:0012143" ], "is_obsolete": "", "replace_id": "" }, "HP:0031388": { "name": [ "megakaryocyte nucleus hyperlobulation", "megakaryocyte nucleus hyperlobulation" ], "alt_id": [], "def": "The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus.", "synonym": [], "xref": [], "is_a": [ "HP:0012143" ], "is_obsolete": "", "replace_id": "" }, "HP:0031389": { "name": [ "abnormal mhc ii surface expression", "abnormal mhc ii surface expression" ], "alt_id": [], "def": "A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.", "synonym": [], "xref": [], "is_a": [ "HP:0010978" ], "is_obsolete": "", "replace_id": "" }, "HP:0031390": { "name": [ "reduced mhc ii surface expression", "reduce mhc ii surface expression" ], "alt_id": [], "def": "A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.", "synonym": [], "xref": [], "is_a": [ "HP:0031389" ], "is_obsolete": "", "replace_id": "" }, "HP:0031391": { "name": [ "elevated mhc ii surface expression", "elevate mhc ii surface expression" ], "alt_id": [], "def": "An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface.", "synonym": [], "xref": [], "is_a": [ "HP:0031389" ], "is_obsolete": "", "replace_id": "" }, "HP:0031392": { "name": [ "abnormal proportion of cd4 - positive t cells", "abnormal proportion of cd4 - positive t cell" ], "alt_id": [], "def": "Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells.", "synonym": [ [ "abnormal proportion of cd4+ t cells", "abnormal proportion of cd4+ t cell" ], [ "abnormal proportion of cd4 - positive , alpha - beta t cells", "abnormal proportion of cd4 - positive , alpha - beta t cell" ] ], "xref": [], "is_a": [ "HP:0025540" ], "is_obsolete": "", "replace_id": "" }, "HP:0031393": { "name": [ "abnormal proportion of cd8 - positive t cells", "abnormal proportion of cd8 - positive t cell" ], "alt_id": [], "def": "Any abnormality in the proportion of CD8 T cells relative to the total number of T cells.", "synonym": [ [ "abnormal proportion of cd8+ t cells", "abnormal proportion of cd8+ t cell" ], [ "abnormal proportion of cd8 - positive , alpha - beta t cells", "abnormal proportion of cd8 - positive , alpha - beta t cell" ] ], "xref": [], "is_a": [ "HP:0025540" ], "is_obsolete": "", "replace_id": "" }, "HP:0031394": { "name": [ "abnormal cd4 : cd8 ratio", "abnormal cd4 : cd8 ratio" ], "alt_id": [], "def": "Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.", "synonym": [], "xref": [], "is_a": [ "HP:0025540" ], "is_obsolete": "", "replace_id": "" }, "HP:0031396": { "name": [ "abnormal proportion of naive t cells", "abnormal proportion of naive t cell" ], "alt_id": [], "def": "Any abnormality in the proportion of naive T cells relative to the total number of T cells.", "synonym": [ [ "abnormal naive t cell proportion", "abnormal naive t cell proportion" ], [ "abnormal proportion of naive thymus - derived , alpha - beta t cells", "abnormal proportion of naive thymus - derive , alpha - beta t cell" ] ], "xref": [], "is_a": [ "HP:0025540" ], "is_obsolete": "", "replace_id": "" }, "HP:0031397": { "name": [ "decreased proportion of naive t cells", "decreased proportion of naive t cell" ], "alt_id": [], "def": "An abnormally decreased proportion of naive T cells relative to the total number of T cells.", "synonym": [ [ "decreased proportion of naive thymus - derived , alpha - beta t cells", "decreased proportion of naive thymus - derive , alpha - beta t cell" ], [ "reduced proportion of naive t cells", "reduce proportion of naive t cell" ] ], "xref": [], "is_a": [ "HP:0031396" ], "is_obsolete": "", "replace_id": "" }, "HP:0031398": { "name": [ "increased proportion of naive t cells", "increase proportion of naive t cell" ], "alt_id": [], "def": "An abnormally increased proportion of naive T cells relative to the total number of T cells.", "synonym": [ [ "elevated proportion of naive t cells", "elevate proportion of naive t cell" ], [ "increased proportion of naive thymus - derived , alpha - beta t cells", "increase proportion of naive thymus - derive , alpha - beta t cell" ] ], "xref": [], "is_a": [ "HP:0031396" ], "is_obsolete": "", "replace_id": "" }, "HP:0031399": { "name": [ "abnormal proportion of double - negative alpha - beta regulatory t cell", "abnormal proportion of double - negative alpha - beta regulatory t cell" ], "alt_id": [], "def": "An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.", "synonym": [ [ "abnormal cd4 - negative , cd8 - negative , alpha - beta regulatory t cell distribution", "abnormal cd4 - negative , cd8 - negative , alpha - beta regulatory t cell distribution" ], [ "abnormal dn treg distribution", "abnormal dn treg distribution" ], [ "abnormal double negative treg distribution", "abnormal double negative treg distribution" ], [ "abnormal double - negative alpha - beta regulatory t cell distribution", "abnormal double - negative alpha - beta regulatory t cell distribution" ] ], "xref": [], "is_a": [ "HP:0025540" ], "is_obsolete": "", "replace_id": "" }, "HP:0031401": { "name": [ "reduced proportion of cd4 - negative , cd8 - negative , alpha - beta regulatory t cells", "reduce proportion of cd4 - negative , cd8 - negative , alpha - beta regulatory t cell" ], "alt_id": [], "def": "An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.", "synonym": [], "xref": [], "is_a": [ "HP:0031399" ], "is_obsolete": "", "replace_id": "" }, "HP:0031402": { "name": [ "reduced antigen - specific t cell proliferation", "reduce antigen - specific t cell proliferation" ], "alt_id": [], "def": "Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.", "synonym": [ [ "antigen - specific t cell proliferation defect", "antigen - specific t cell proliferation defect" ], [ "impaired activated t cell proliferation", "impaired activate t cell proliferation" ], [ "impaired ag - specific t cell proliferation", "impaired ag - specific t cell proliferation" ], [ "impaired cellular adaptive immune response", "impaired cellular adaptive immune response" ] ], "xref": [], "is_a": [ "HP:0031379", "HP:0031404" ], "is_obsolete": "", "replace_id": "" }, "HP:0031403": { "name": [ "impaired pathogen - specific cd8 cytoxicity", "impaired pathogen - specific cd8 cytoxicity" ], "alt_id": [], "def": "Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors.", "synonym": [ [ "pathogen - specific cd8 cytoxicity defect", "pathogen - specific cd8 cytoxicity defect" ] ], "xref": [], "is_a": [ "HP:0031404" ], "is_obsolete": "", "replace_id": "" }, "HP:0031404": { "name": [ "impaired antigen - specific response", "impaired antigen - specific response" ], "alt_id": [], "def": "An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).", "synonym": [ [ "impaired adaptive immune response", "impaired adaptive immune response" ] ], "xref": [], "is_a": [ "HP:0010978" ], "is_obsolete": "", "replace_id": "" }, "HP:0031405": { "name": [ "poroma", "poroma" ], "alt_id": [], "def": "A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273].", "synonym": [], "xref": [], "is_a": [ "HP:0012842" ], "is_obsolete": "", "replace_id": "" }, "HP:0031406": { "name": [ "abnormal cytokine signaling", "abnormal cytokine signal" ], "alt_id": [], "def": "Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.", "synonym": [ [ "abnormal cytokine signalling", "abnormal cytokine signalling" ] ], "xref": [], "is_a": [ "HP:0011111" ], "is_obsolete": "", "replace_id": "" }, "HP:0031407": { "name": [ "impaired cytokine signaling", "impaired cytokine signal" ], "alt_id": [], "def": "A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.", "synonym": [ [ "cytokine signaling defect", "cytokine signal defect" ], [ "cytokine signalling defect", "cytokine signal defect" ], [ "impaired cytokine signalling", "impaired cytokine signalling" ] ], "xref": [], "is_a": [ "HP:0031406" ], "is_obsolete": "", "replace_id": "" }, "HP:0031408": { "name": [ "increased proportion of cd25+ mast cells", "increase proportion of cd25+ mast cell" ], "alt_id": [], "def": "An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).", "synonym": [], "xref": [], "is_a": [ "HP:0100494" ], "is_obsolete": "", "replace_id": "" }, "HP:0031409": { "name": [ "abnormal lymphocyte physiology", "abnormal lymphocyte physiology" ], "alt_id": [], "def": "Any anomaly of lymphocyte function.", "synonym": [], "xref": [], "is_a": [ "HP:0011017", "HP:0033796" ], "is_obsolete": "", "replace_id": "" }, "HP:0031410": { "name": [ "abnormal distribution of cd56 bright / dim natural killer cells", "abnormal distribution of cd56 bright / dim natural killer cell" ], "alt_id": [], "def": "An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells.", "synonym": [ [ "abnormal distribution of cd56 bright / dim nk cells", "abnormal distribution of cd56 bright / dim nk cell" ] ], "xref": [], "is_a": [ "HP:0500033" ], "is_obsolete": "", "replace_id": "" }, "HP:0031411": { "name": [ "abnormal chromosome morphology", "abnormal chromosome morphology" ], "alt_id": [], "def": "Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order.", "synonym": [], "xref": [ "Fyler:4013" ], "is_a": [ "HP:0025461" ], "is_obsolete": "", "replace_id": "" }, "HP:0031412": { "name": [ "abnormal telomere morphology", "abnormal telomere morphology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0031411" ], "is_obsolete": "", "replace_id": "" }, "HP:0031413": { "name": [ "short telomere length", "short telomere length" ], "alt_id": [], "def": "An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.", "synonym": [], "xref": [], "is_a": [ "HP:0031412" ], "is_obsolete": "", "replace_id": "" }, "HP:0031414": { "name": [ "high serum calcifediol", "high serum calcifediol" ], "alt_id": [], "def": "An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.", "synonym": [ [ "high serum 25 - hydroxycholecalciferol", "high serum 25 - hydroxycholecalciferol" ], [ "high serum calcidiol", "high serum calcidiol" ] ], "xref": [], "is_a": [ "HP:0100511" ], "is_obsolete": "", "replace_id": "" }, "HP:0031415": { "name": [ "high serum calcitriol", "high serum calcitriol" ], "alt_id": [ "HP:0003152" ], "def": "An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.", "synonym": [ [ "high serum 1,25 - dihydroxycholecalciferol", "high serum 1,25 - dihydroxycholecalciferol" ], [ "high serum 1,25 - dihydroxyvitamin d3", "high serum 1,25 - dihydroxyvitamin d3" ], [ "increased serum 1,25 - dihydroxyvitamin d3", "increase serum 1,25 - dihydroxyvitamin d3" ], [ "increased serum calcitriol", "increase serum calcitriol" ] ], "xref": [ "UMLS:C1833331" ], "is_a": [ "HP:0100511" ], "is_obsolete": "", "replace_id": "" }, "HP:0031416": { "name": [ "abnormal nasal mucus secretion", "abnormal nasal mucus secretion" ], "alt_id": [], "def": "Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.", "synonym": [], "xref": [], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0031417": { "name": [ "rhinorrhea", "rhinorrhea" ], "alt_id": [], "def": "Increased discharge of mucus from the nose.", "synonym": [ [ "nasal discharge", "nasal discharge" ], [ "runny nose", "runny nose" ] ], "xref": [], "is_a": [ "HP:0031416" ], "is_obsolete": "", "replace_id": "" }, "HP:0031418": { "name": [ "increased body mass index", "increase body mass index" ], "alt_id": [], "def": "Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages.", "synonym": [ [ "increased bmi", "increase bmi" ] ], "xref": [], "is_a": [ "HP:0045081" ], "is_obsolete": "", "replace_id": "" }, "HP:0031419": { "name": [ "reduced sex - hormone binding protein level", "reduce sex - hormone bind protein level" ], "alt_id": [], "def": "A decreased concentration of sex-hormone binding protein in the circulation.", "synonym": [ [ "reduced androgen - binding protein level", "reduce androgen - bind protein level" ] ], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0031420": { "name": [ "small yellow foveal lesion with surrounding gray zone", "small yellow foveal lesion with surround gray zone" ], "alt_id": [], "def": "A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity.", "synonym": [ [ "laser pointer - induced maculopathy", "laser pointer - induce maculopathy" ], [ "laser pointer - induced retinopathy", "laser pointer - induce retinopathy" ], [ "light induced retinopathy", "light induce retinopathy" ], [ "photic retinopathy", "photic retinopathy" ], [ "small yellow foveal lesion with surrounding grey zone", "small yellow foveal lesion with surround grey zone" ], [ "solar retinitis", "solar retinitis" ], [ "solar retinopathy", "solar retinopathy" ] ], "xref": [], "is_a": [ "HP:0030500" ], "is_obsolete": "", "replace_id": "" }, "HP:0031421": { "name": [ "small superior frontal cortex", "small superior frontal cortex" ], "alt_id": [], "def": "Reduced size of the superior frontal portion of the cerebral cortex.", "synonym": [], "xref": [], "is_a": [ "HP:0002472" ], "is_obsolete": "", "replace_id": "" }, "HP:0031422": { "name": [ "abnormal cerebellar cortex morphology", "abnormal cerebellar cortex morphology" ], "alt_id": [], "def": "Any structural anomaly of the cortex of the cerebellum.", "synonym": [ [ "abnormal morphology of the cerebellar cortex", "abnormal morphology of the cerebellar cortex" ] ], "xref": [], "is_a": [ "HP:0001317" ], "is_obsolete": "", "replace_id": "" }, "HP:0031423": { "name": [ "small cerebellar cortex", "small cerebellar cortex" ], "alt_id": [], "def": "Reduced size of the cerebellar cortex.", "synonym": [], "xref": [], "is_a": [ "HP:0031422" ], "is_obsolete": "", "replace_id": "" }, "HP:0031424": { "name": [ "abnormal circulating beta - c - terminal telopeptide level", "abnormal circulate beta - c - terminal telopeptide level" ], "alt_id": [], "def": "A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover.", "synonym": [ [ "abnormal circulating beta - crosslaps level", "abnormal circulate beta - crosslaps level" ], [ "abnormal circulating beta - ctx level", "abnormal circulate beta - ctx level" ] ], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0031425": { "name": [ "increased circulating beta - c - terminal telopeptide level", "increase circulate beta - c - terminal telopeptide level" ], "alt_id": [], "def": "A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.", "synonym": [ [ "increased circulating beta - crosslaps level", "increase circulate beta - crosslaps level" ], [ "increased circulating beta - ctx level", "increase circulate beta - ctx level" ] ], "xref": [], "is_a": [ "HP:0031424" ], "is_obsolete": "", "replace_id": "" }, "HP:0031426": { "name": [ "decreased circulating beta - c - terminal telopeptide level", "decrease circulate beta - c - terminal telopeptide level" ], "alt_id": [], "def": "A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.", "synonym": [ [ "decreased circulating beta - crosslaps level", "decrease circulate beta - crosslaps level" ], [ "decreased circulating beta - ctx level", "decrease circulate beta - ctx level" ] ], "xref": [], "is_a": [ "HP:0031424" ], "is_obsolete": "", "replace_id": "" }, "HP:0031427": { "name": [ "abnormal circulating osteocalcin level", "abnormal circulate osteocalcin level" ], "alt_id": [], "def": "A deviation from the normal concentration of osteocalcin in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0031428": { "name": [ "increased circulating osteocalcin level", "increase circulate osteocalcin level" ], "alt_id": [], "def": "An elevated level of osteocalcin in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0031427" ], "is_obsolete": "", "replace_id": "" }, "HP:0031429": { "name": [ "decreased circulating osteocalcin level", "decrease circulate osteocalcin level" ], "alt_id": [], "def": "A reduced level of osteocalcin in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0031427" ], "is_obsolete": "", "replace_id": "" }, "HP:0031430": { "name": [ "oligoclonal t cell expansion", "oligoclonal t cell expansion" ], "alt_id": [], "def": "The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones.", "synonym": [], "xref": [], "is_a": [ "HP:0011840" ], "is_obsolete": "", "replace_id": "" }, "HP:0031431": { "name": [ "persistent repetition of words", "persistent repetition of word" ], "alt_id": [], "def": "Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others.", "synonym": [], "xref": [], "is_a": [ "HP:0030223" ], "is_obsolete": "", "replace_id": "" }, "HP:0031432": { "name": [ "persistent repetition of actions", "persistent repetition of action" ], "alt_id": [], "def": "Repeated and inappropriate mechanical repetition of actions.", "synonym": [], "xref": [], "is_a": [ "HP:0030223" ], "is_obsolete": "", "replace_id": "" }, "HP:0031433": { "name": [ "alexithymia", "alexithymia" ], "alt_id": [], "def": "A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others.", "synonym": [ [ "unaware of others ' emotions", "unaware of others ' emotion" ] ], "xref": [], "is_a": [ "HP:0000729" ], "is_obsolete": "", "replace_id": "" }, "HP:0031434": { "name": [ "abnormal speech prosody", "abnormal speech prosody" ], "alt_id": [], "def": "An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm.", "synonym": [], "xref": [], "is_a": [ "HP:0001608" ], "is_obsolete": "", "replace_id": "" }, "HP:0031435": { "name": [ "monotonic speech", "monotonic speech" ], "alt_id": [], "def": "A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice.", "synonym": [], "xref": [], "is_a": [ "HP:0031434" ], "is_obsolete": "", "replace_id": "" }, "HP:0031436": { "name": [ "increased pitch variability of speech", "increase pitch variability of speech" ], "alt_id": [], "def": "A speech pattern characterized by abnormally elevated variability of the pitch of the voice.", "synonym": [], "xref": [], "is_a": [ "HP:0031434" ], "is_obsolete": "", "replace_id": "" }, "HP:0031437": { "name": [ "pregnancy exposure", "pregnancy exposure" ], "alt_id": [], "def": "Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants.", "synonym": [ [ "exposure during pregnancy", "exposure during pregnancy" ] ], "xref": [], "is_a": [ "HP:0002686" ], "is_obsolete": "", "replace_id": "" }, "HP:0031438": { "name": [ "abnormal sex hormone - binding globulin level", "abnormal sex hormone - binding globulin level" ], "alt_id": [], "def": "A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0025465" ], "is_obsolete": "", "replace_id": "" }, "HP:0031439": { "name": [ "abnormal angiostatin level", "abnormal angiostatin level" ], "alt_id": [], "def": "A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels.", "synonym": [], "xref": [], "is_a": [ "HP:0025465" ], "is_obsolete": "", "replace_id": "" }, "HP:0031440": { "name": [ "obsolete abnormal tricuspid valve morphology", "obsolete abnormal tricuspid valve morphology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001702" }, "HP:0031441": { "name": [ "abnormal tricuspid valve annulus morphology", "abnormal tricuspid valve annulus morphology" ], "alt_id": [], "def": "Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.", "synonym": [], "xref": [], "is_a": [ "HP:0001702" ], "is_obsolete": "", "replace_id": "" }, "HP:0031442": { "name": [ "abnormal tricuspid chordae tendinae morphology", "abnormal tricuspid chordae tendinae morphology" ], "alt_id": [], "def": "Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve.", "synonym": [], "xref": [], "is_a": [ "HP:0001702" ], "is_obsolete": "", "replace_id": "" }, "HP:0031443": { "name": [ "abnormal tricuspid valve leaflet morphology", "abnormal tricuspid valve leaflet morphology" ], "alt_id": [], "def": "Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve.", "synonym": [], "xref": [], "is_a": [ "HP:0001702" ], "is_obsolete": "", "replace_id": "" }, "HP:0031444": { "name": [ "dilatation of the tricuspid annulus", "dilatation of the tricuspid annulus" ], "alt_id": [], "def": "An increase in the diameter of the ring (annulus) of the tricuspid valve.", "synonym": [], "xref": [], "is_a": [ "HP:0031441" ], "is_obsolete": "", "replace_id": "" }, "HP:0031445": { "name": [ "oral mucosa nodule", "oral mucosa nodule" ], "alt_id": [], "def": "A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth.", "synonym": [], "xref": [], "is_a": [ "HP:0011830" ], "is_obsolete": "", "replace_id": "" }, "HP:0031446": { "name": [ "erosion of oral mucosa", "erosion of oral mucosa" ], "alt_id": [], "def": "Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.", "synonym": [], "xref": [], "is_a": [ "HP:0011830" ], "is_obsolete": "", "replace_id": "" }, "HP:0031447": { "name": [ "penile freckling", "penile freckle" ], "alt_id": [], "def": "Multiple pigmented macules located on the skin of the penis.", "synonym": [], "xref": [], "is_a": [ "HP:0000036" ], "is_obsolete": "", "replace_id": "" }, "HP:0031448": { "name": [ "herpetiform vesicles", "herpetiform vesicle" ], "alt_id": [], "def": "Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles.", "synonym": [], "xref": [], "is_a": [ "HP:0200037" ], "is_obsolete": "", "replace_id": "" }, "HP:0031449": { "name": [ "perineal hemangioma", "perineal hemangioma" ], "alt_id": [], "def": "Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.", "synonym": [], "xref": [], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0031450": { "name": [ "polycyclic", "polycyclic" ], "alt_id": [], "def": "A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0031451": { "name": [ "lower extremity subcutanous fat hypertrophy", "low extremity subcutanous fat hypertrophy" ], "alt_id": [], "def": "An abnormal increase in the amount of subcutaneous fat in the legs.", "synonym": [], "xref": [], "is_a": [ "HP:0009124" ], "is_obsolete": "", "replace_id": "" }, "HP:0031452": { "name": [ "lichenoid skin lesion", "lichenoid skin lesion" ], "alt_id": [], "def": "Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques.", "synonym": [], "xref": [], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0031453": { "name": [ "oral lichenoid lesion", "oral lichenoid lesion" ], "alt_id": [], "def": "Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions.", "synonym": [], "xref": [], "is_a": [ "HP:0011830" ], "is_obsolete": "", "replace_id": "" }, "HP:0031454": { "name": [ "apocrine hidrocystoma", "apocrine hidrocystoma" ], "alt_id": [], "def": "A cystic lesions that forms a benign tumor of an apocrine sweat gland.", "synonym": [], "xref": [], "is_a": [ "HP:0012842" ], "is_obsolete": "", "replace_id": "" }, "HP:0031455": { "name": [ "presacral ganglioneuroma", "presacral ganglioneuroma" ], "alt_id": [], "def": "A gangioleneuroma originating from sympathetic ganglion cells in the abdomen.", "synonym": [], "xref": [], "is_a": [ "HP:0003005" ], "is_obsolete": "", "replace_id": "" }, "HP:0031456": { "name": [ "ectopic pregnancy", "ectopic pregnancy" ], "alt_id": [], "def": "A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube).", "synonym": [], "xref": [], "is_a": [ "HP:0002686" ], "is_obsolete": "", "replace_id": "" }, "HP:0031457": { "name": [ "pulmonary opacity", "pulmonary opacity" ], "alt_id": [], "def": "Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality.", "synonym": [], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0031458": { "name": [ "adenoiditis", "adenoiditis" ], "alt_id": [], "def": "An inflammation of the adenoid tissue.", "synonym": [], "xref": [], "is_a": [ "HP:3000033" ], "is_obsolete": "", "replace_id": "" }, "HP:0031459": { "name": [ "soft tissue neoplasm", "soft tissue neoplasm" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.", "synonym": [], "xref": [], "is_a": [ "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0031460": { "name": [ "benign muscle neoplasm", "benign muscle neoplasm" ], "alt_id": [], "def": "A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882].", "synonym": [], "xref": [], "is_a": [ "HP:0031459" ], "is_obsolete": "", "replace_id": "" }, "HP:0031461": { "name": [ "intramuscular myxoma", "intramuscular myxoma" ], "alt_id": [], "def": "A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy.", "synonym": [ [ "im myxoma", "im myxoma" ] ], "xref": [], "is_a": [ "HP:0031460" ], "is_obsolete": "", "replace_id": "" }, "HP:0031462": { "name": [ "musculotendinous retraction", "musculotendinous retraction" ], "alt_id": [], "def": "Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue.", "synonym": [], "xref": [], "is_a": [ "HP:0003549" ], "is_obsolete": "", "replace_id": "" }, "HP:0031463": { "name": [ "esophageal squamous papilloma", "esophageal squamous papilloma" ], "alt_id": [], "def": "A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia.", "synonym": [], "xref": [], "is_a": [ "HP:0100751" ], "is_obsolete": "", "replace_id": "" }, "HP:0031464": { "name": [ "genital blistering", "genital blistering" ], "alt_id": [], "def": "The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.", "synonym": [], "xref": [], "is_a": [ "HP:0033800" ], "is_obsolete": "", "replace_id": "" }, "HP:0031465": { "name": [ "abnormal vasa vasorum morphology", "abnormal vas vasorum morphology" ], "alt_id": [], "def": "A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products.", "synonym": [], "xref": [], "is_a": [ "HP:0033353" ], "is_obsolete": "", "replace_id": "" }, "HP:0031466": { "name": [ "impairment in personality functioning", "impairment in personality functioning" ], "alt_id": [], "def": "A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.", "synonym": [], "xref": [], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0031467": { "name": [ "negative affectivity", "negative affectivity" ], "alt_id": [], "def": "A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states.", "synonym": [], "xref": [], "is_a": [ "HP:0031466" ], "is_obsolete": "", "replace_id": "" }, "HP:0031468": { "name": [ "separation insecurity", "separation insecurity" ], "alt_id": [], "def": "Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy.", "synonym": [], "xref": [], "is_a": [ "HP:0031466" ], "is_obsolete": "", "replace_id": "" }, "HP:0031469": { "name": [ "low self esteem", "low self esteem" ], "alt_id": [], "def": "Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself.", "synonym": [], "xref": [], "is_a": [ "HP:0031466" ], "is_obsolete": "", "replace_id": "" }, "HP:0031472": { "name": [ "risk taking", "risk take" ], "alt_id": [], "def": "Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger.", "synonym": [], "xref": [], "is_a": [ "HP:0000734" ], "is_obsolete": "", "replace_id": "" }, "HP:0031473": { "name": [ "hostility", "hostility" ], "alt_id": [], "def": "Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults.", "synonym": [], "xref": [], "is_a": [ "HP:0031466" ], "is_obsolete": "", "replace_id": "" }, "HP:0031474": { "name": [ "pulmonary chondroma", "pulmonary chondroma" ], "alt_id": [], "def": "A benign cartilaginous tumors of the lung.", "synonym": [], "xref": [], "is_a": [ "HP:0100526" ], "is_obsolete": "", "replace_id": "" }, "HP:0031475": { "name": [ "status epilepticus without prominent motor symptoms", "status epilepticus without prominent motor symptom" ], "alt_id": [], "def": "There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.", "synonym": [ [ "nonconvulsive status epilepticus", "nonconvulsive status epilepticus" ] ], "xref": [], "is_a": [ "HP:0002133" ], "is_obsolete": "", "replace_id": "" }, "HP:0031476": { "name": [ "abnormal buccal mucosa cell morphology", "abnormal buccal mucosa cell morphology" ], "alt_id": [], "def": "Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells).", "synonym": [], "xref": [], "is_a": [ "HP:0025461" ], "is_obsolete": "", "replace_id": "" }, "HP:0031477": { "name": [ "obsolete abnormal mitral valve morphology", "obsolete abnormal mitral valve morphology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001633" }, "HP:0031478": { "name": [ "abnormal mitral valve annulus morphology", "abnormal mitral valve annulus morphology" ], "alt_id": [], "def": "Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.", "synonym": [], "xref": [], "is_a": [ "HP:0001633" ], "is_obsolete": "", "replace_id": "" }, "HP:0031479": { "name": [ "dilatation of the mitral annulus", "dilatation of the mitral annulus" ], "alt_id": [], "def": "An increase in the diameter of the ring (annulus) of the mitral valve.", "synonym": [], "xref": [], "is_a": [ "HP:0001633" ], "is_obsolete": "", "replace_id": "" }, "HP:0031480": { "name": [ "abnormal mitral valve leaflet morphology", "abnormal mitral valve leaflet morphology" ], "alt_id": [], "def": "Any structural anomaly of the leaflets (also known as cusps) of the mitral valve.", "synonym": [], "xref": [], "is_a": [ "HP:0001633" ], "is_obsolete": "", "replace_id": "" }, "HP:0031481": { "name": [ "abnormal mitral valve physiology", "abnormal mitral valve physiology" ], "alt_id": [], "def": "Any functional anomaly of the mitral valve.", "synonym": [], "xref": [], "is_a": [ "HP:0031650" ], "is_obsolete": "", "replace_id": "" }, "HP:0031482": { "name": [ "abnormal regional left ventricular contraction", "abnormal regional leave ventricular contraction" ], "alt_id": [], "def": "A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle.", "synonym": [], "xref": [], "is_a": [ "HP:0005162" ], "is_obsolete": "", "replace_id": "" }, "HP:0031483": { "name": [ "reduced contraction of the left ventricular apex", "reduce contraction of the left ventricular apex" ], "alt_id": [], "def": "Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography.", "synonym": [], "xref": [], "is_a": [ "HP:0031482" ], "is_obsolete": "", "replace_id": "" }, "HP:0031484": { "name": [ "cold - induced hemolysis", "cold - induced hemolysis" ], "alt_id": [], "def": "A form of hemolytic anemia that can be triggered by cold temperatures.", "synonym": [], "xref": [], "is_a": [ "HP:0001878" ], "is_obsolete": "", "replace_id": "" }, "HP:0031485": { "name": [ "subperiosteal bone formation", "subperiosteal bone formation" ], "alt_id": [], "def": "The formation of new bone along the cortex and underneath the periosteum of a bone.", "synonym": [ [ "periosteal reaction", "periosteal reaction" ] ], "xref": [], "is_a": [ "HP:0030313" ], "is_obsolete": "", "replace_id": "" }, "HP:0031486": { "name": [ "vascular malformation of the lip", "vascular malformation of the lip" ], "alt_id": [], "def": "An anomaly of blood vessels located in the lip.", "synonym": [], "xref": [], "is_a": [ "HP:0000159" ], "is_obsolete": "", "replace_id": "" }, "HP:0031487": { "name": [ "capillary malformation of the lip", "capillary malformation of the lip" ], "alt_id": [], "def": "A vascular malformation located in the lip that is characterized by\\nectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis.", "synonym": [], "xref": [], "is_a": [ "HP:0031486" ], "is_obsolete": "", "replace_id": "" }, "HP:0031488": { "name": [ "arteriovenous malformation of the lip", "arteriovenous malformation of the lip" ], "alt_id": [], "def": "A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus.", "synonym": [ [ "atypical connection between arteries and veins", "atypical connection between artery and vein" ] ], "xref": [], "is_a": [ "HP:0031486" ], "is_obsolete": "", "replace_id": "" }, "HP:0031489": { "name": [ "venous malformation of the lip", "venous malformation of the lip" ], "alt_id": [], "def": "A vascular malformation located in the lip that is related to abnormal vascular morphogenesis.", "synonym": [], "xref": [], "is_a": [ "HP:0031486" ], "is_obsolete": "", "replace_id": "" }, "HP:0031490": { "name": [ "hemangioma of the lip", "hemangioma of the lip" ], "alt_id": [], "def": "A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia.", "synonym": [], "xref": [], "is_a": [ "HP:0001028", "HP:0031486" ], "is_obsolete": "", "replace_id": "" }, "HP:0031491": { "name": [ "continuous spike and waves during slow sleep", "continuous spike and wave during slow sleep" ], "alt_id": [], "def": "Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep.", "synonym": [ [ "electrical status epilepticus during slow - wave sleep", "electrical status epilepticus during slow - wave sleep" ] ], "xref": [], "is_a": [ "HP:0025373" ], "is_obsolete": "", "replace_id": "" }, "HP:0031492": { "name": [ "epithelial neoplasm", "epithelial neoplasm" ], "alt_id": [], "def": "A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709].", "synonym": [], "xref": [], "is_a": [ "HP:0011792" ], "is_obsolete": "", "replace_id": "" }, "HP:0031493": { "name": [ "glandular cell neoplasm", "glandular cell neoplasm" ], "alt_id": [], "def": "A tumor that arises from a gland cell.", "synonym": [], "xref": [], "is_a": [ "HP:0031492" ], "is_obsolete": "", "replace_id": "" }, "HP:0031494": { "name": [ "ovarian mucinous tumor", "ovarian mucinous tumor" ], "alt_id": [], "def": "Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma.", "synonym": [ [ "mucinous neoplasm of the ovary", "mucinous neoplasm of the ovary" ], [ "ovarian mucinous tumour", "ovarian mucinous tumour" ] ], "xref": [], "is_a": [ "HP:0031495" ], "is_obsolete": "", "replace_id": "" }, "HP:0031495": { "name": [ "mucinous neoplasm", "mucinous neoplasm" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0031493" ], "is_obsolete": "", "replace_id": "" }, "HP:0031496": { "name": [ "mucinous cystic neoplasm of the pancreas", "mucinous cystic neoplasm of the pancreas" ], "alt_id": [], "def": "Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma.", "synonym": [], "xref": [], "is_a": [ "HP:0031495" ], "is_obsolete": "", "replace_id": "" }, "HP:0031497": { "name": [ "mucinous colorectal carcinoma", "mucinous colorectal carcinoma" ], "alt_id": [], "def": "A subtype of colorectal carcinoma with mucin lakes.", "synonym": [], "xref": [], "is_a": [ "HP:0031495" ], "is_obsolete": "", "replace_id": "" }, "HP:0031498": { "name": [ "mucinous gastric carcinoma", "mucinous gastric carcinoma" ], "alt_id": [], "def": "A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor.", "synonym": [], "xref": [], "is_a": [ "HP:0031495" ], "is_obsolete": "", "replace_id": "" }, "HP:0031499": { "name": [ "appendiceal mucinous neoplasm", "appendiceal mucinous neoplasm" ], "alt_id": [], "def": "An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles.", "synonym": [], "xref": [], "is_a": [ "HP:0031495" ], "is_obsolete": "", "replace_id": "" }, "HP:0031500": { "name": [ "abdominal mass", "abdominal mass" ], "alt_id": [], "def": "An abnormal enlargement or swelling in the abdomen.", "synonym": [], "xref": [], "is_a": [ "HP:0001438" ], "is_obsolete": "", "replace_id": "" }, "HP:0031501": { "name": [ "pelvic mass", "pelvic mass" ], "alt_id": [], "def": "An abnormal enlargement or swelling in the pelvic region.", "synonym": [], "xref": [], "is_a": [ "HP:0001438" ], "is_obsolete": "", "replace_id": "" }, "HP:0031502": { "name": [ "trophoblastic tumor", "trophoblastic tumor" ], "alt_id": [], "def": "A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422].", "synonym": [ [ "trophoblastic tumour", "trophoblastic tumour" ] ], "xref": [], "is_a": [ "HP:0100728" ], "is_obsolete": "", "replace_id": "" }, "HP:0031503": { "name": [ "night gasping", "night gasp" ], "alt_id": [], "def": "Waking up at night gasping for breath.", "synonym": [], "xref": [], "is_a": [ "HP:0002793" ], "is_obsolete": "", "replace_id": "" }, "HP:0031504": { "name": [ "foamy urine", "foamy urine" ], "alt_id": [], "def": "Urine has an increased amount of frothy fine bubbles.", "synonym": [ [ "frothy urine", "frothy urine" ] ], "xref": [], "is_a": [ "HP:0033072" ], "is_obsolete": "", "replace_id": "" }, "HP:0031505": { "name": [ "abnormal circulating t4 level", "abnormal circulate t4 level" ], "alt_id": [], "def": "A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).", "synonym": [ [ "abnormal circulating thyroxine level", "abnormal circulate thyroxine level" ] ], "xref": [], "is_a": [ "HP:0031508" ], "is_obsolete": "", "replace_id": "" }, "HP:0031506": { "name": [ "increased circulating t4 level", "increase circulate t4 level" ], "alt_id": [], "def": "An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).", "synonym": [ [ "increased circulating thyroxine level", "increase circulate thyroxine level" ] ], "xref": [], "is_a": [ "HP:0031505" ], "is_obsolete": "", "replace_id": "" }, "HP:0031507": { "name": [ "decreased circulating t4 level", "decrease circulate t4 level" ], "alt_id": [], "def": "A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).", "synonym": [ [ "decreased circulating thyroxine level", "decrease circulate thyroxine level" ], [ "reduced t4 plasma level", "reduce t4 plasma level" ] ], "xref": [], "is_a": [ "HP:0031505" ], "is_obsolete": "", "replace_id": "" }, "HP:0031508": { "name": [ "abnormal thyroid hormone level", "abnormal thyroid hormone level" ], "alt_id": [], "def": "Any deviation from the normal range of the hormones produced by the thyroid gland.", "synonym": [], "xref": [], "is_a": [ "HP:0002926", "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0031509": { "name": [ "dry nipple", "dry nipple" ], "alt_id": [], "def": "Abnormally dry skin in the area of the nipple of the breast.", "synonym": [], "xref": [], "is_a": [ "HP:0004404" ], "is_obsolete": "", "replace_id": "" }, "HP:0031510": { "name": [ "linear earlobe crease", "linear earlobe crease" ], "alt_id": [], "def": "A transverse linear fissure (crease) in the lobule of the ear.", "synonym": [], "xref": [], "is_a": [ "HP:0000363" ], "is_obsolete": "", "replace_id": "" }, "HP:0031511": { "name": [ "diagonal earlobe crease", "diagonal earlobe crease" ], "alt_id": [], "def": "Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees.", "synonym": [], "xref": [], "is_a": [ "HP:0000363" ], "is_obsolete": "", "replace_id": "" }, "HP:0031512": { "name": [ "abnormal cutaneous collagen fibril morphology", "abnormal cutaneous collagen fibril morphology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0031513": { "name": [ "luse bodies", "luse body" ], "alt_id": [], "def": "Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.", "synonym": [], "xref": [], "is_a": [ "HP:0031512" ], "is_obsolete": "", "replace_id": "" }, "HP:0031514": { "name": [ "increased proportion of exhausted t cells", "increase proportion of exhausted t cell" ], "alt_id": [], "def": "An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.", "synonym": [], "xref": [], "is_a": [ "HP:0041080" ], "is_obsolete": "", "replace_id": "" }, "HP:0031515": { "name": [ "abnormal meiosis", "abnormal meiosis" ], "alt_id": [], "def": "Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.", "synonym": [], "xref": [], "is_a": [ "HP:0033337" ], "is_obsolete": "", "replace_id": "" }, "HP:0031516": { "name": [ "oocyte arrest at metaphase i", "oocyte arrest at metaphase i" ], "alt_id": [], "def": "Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.", "synonym": [ [ "metaphase i oocyte meiotic arrest", "metaphase i oocyte meiotic arrest" ], [ "oocyte meiotic arrest at metaphase i", "oocyte meiotic arrest at metaphase i" ] ], "xref": [], "is_a": [ "HP:0033338" ], "is_obsolete": "", "replace_id": "" }, "HP:0031517": { "name": [ "verruciform xanthoma", "verruciform xanthoma" ], "alt_id": [], "def": "A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms.", "synonym": [], "xref": [], "is_a": [ "HP:0000991" ], "is_obsolete": "", "replace_id": "" }, "HP:0031518": { "name": [ "absent posterior alpha rhythm", "absent posterior alpha rhythm" ], "alt_id": [], "def": "Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above.", "synonym": [], "xref": [], "is_a": [ "HP:0025373" ], "is_obsolete": "", "replace_id": "" }, "HP:0031519": { "name": [ "cauliflower deformity of dermal collagen fibrils", "cauliflower deformity of dermal collagen fibril" ], "alt_id": [], "def": "An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.", "synonym": [], "xref": [], "is_a": [ "HP:0031512" ], "is_obsolete": "", "replace_id": "" }, "HP:0031520": { "name": [ "groin pain", "groin pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region.", "synonym": [], "xref": [], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0031521": { "name": [ "vaginal clear cell adenocarcinoma", "vaginal clear cell adenocarcinoma" ], "alt_id": [], "def": "A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm.", "synonym": [ [ "clear cell adenocarcinoma of the vagina", "clear cell adenocarcinoma of the vagina" ] ], "xref": [], "is_a": [ "HP:0100650" ], "is_obsolete": "", "replace_id": "" }, "HP:0031522": { "name": [ "cervical clear cell adenocarcinoma", "cervical clear cell adenocarcinoma" ], "alt_id": [], "def": "A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm.", "synonym": [ [ "clear cell carcinoma of cervix", "clear cell carcinoma of cervix" ] ], "xref": [], "is_a": [ "HP:0100650" ], "is_obsolete": "", "replace_id": "" }, "HP:0031523": { "name": [ "salivary gland oncocytoma", "salivary gland oncocytoma" ], "alt_id": [], "def": "A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria)", "synonym": [ [ "parotid oncocytoma", "parotid oncocytoma" ] ], "xref": [], "is_a": [ "HP:0100684" ], "is_obsolete": "", "replace_id": "" }, "HP:0031524": { "name": [ "ampulla of vater carcinoma", "ampulla of vater carcinoma" ], "alt_id": [], "def": "A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct.", "synonym": [], "xref": [], "is_a": [ "HP:0007378" ], "is_obsolete": "", "replace_id": "" }, "HP:0031525": { "name": [ "keratoacanthoma", "keratoacanthoma" ], "alt_id": [], "def": "Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals.", "synonym": [], "xref": [], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0031526": { "name": [ "subretinal fluid", "subretinal fluid" ], "alt_id": [], "def": "Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane.", "synonym": [ [ "sub - retinal fluid", "sub - retinal fluid" ] ], "xref": [], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0031527": { "name": [ "intraretinal fluid", "intraretinal fluid" ], "alt_id": [], "def": "Edema/fluid accumulating within the retinal layers.", "synonym": [ [ "intra - retinal fluid", "intra - retinal fluid" ] ], "xref": [], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0031528": { "name": [ "subretinal deposits", "subretinal deposit" ], "alt_id": [], "def": "Deposits accumulating between the outer retina and the retinal pigment epithelium.", "synonym": [], "xref": [], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0031529": { "name": [ "focal subretinal deposits", "focal subretinal deposit" ], "alt_id": [], "def": "Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution.", "synonym": [], "xref": [], "is_a": [ "HP:0031528" ], "is_obsolete": "", "replace_id": "" }, "HP:0031530": { "name": [ "multifocal subretinal deposits", "multifocal subretinal deposit" ], "alt_id": [], "def": "Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci.", "synonym": [], "xref": [], "is_a": [ "HP:0031528" ], "is_obsolete": "", "replace_id": "" }, "HP:0031531": { "name": [ "sub - rpe deposits", "sub - rpe deposit" ], "alt_id": [], "def": "Deposits accumulating between the retinal pigment epithelium and Bruch's membrane.", "synonym": [], "xref": [], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0031532": { "name": [ "focal sub - rpe deposits", "focal sub - rpe deposit" ], "alt_id": [], "def": "Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus.", "synonym": [], "xref": [], "is_a": [ "HP:0031531" ], "is_obsolete": "", "replace_id": "" }, "HP:0031533": { "name": [ "multifocal sub - rpe deposits", "multifocal sub - rpe deposit" ], "alt_id": [], "def": "Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci.", "synonym": [], "xref": [], "is_a": [ "HP:0031531" ], "is_obsolete": "", "replace_id": "" }, "HP:0031534": { "name": [ "passive dorsiflexion of the 5th finger more than 90 degrees", "passive dorsiflexion of the 5th finger more than 90 degree" ], "alt_id": [], "def": "An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal.", "synonym": [], "xref": [], "is_a": [ "HP:0004207" ], "is_obsolete": "", "replace_id": "" }, "HP:0031535": { "name": [ "increased theta frequency activity in eeg", "increase theta frequency activity in eeg" ], "alt_id": [], "def": "Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.", "synonym": [], "xref": [], "is_a": [ "HP:0025373" ], "is_obsolete": "", "replace_id": "" }, "HP:0031536": { "name": [ "separate origin of the left anterior descending and left circumflex artery", "separate origin of the left anterior descending and leave circumflex artery" ], "alt_id": [], "def": "Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA).", "synonym": [], "xref": [], "is_a": [ "HP:0011636" ], "is_obsolete": "", "replace_id": "" }, "HP:0031537": { "name": [ "anomalous origin of the left circumflex artery from the right coronary artery", "anomalous origin of the left circumflex artery from the right coronary artery" ], "alt_id": [], "def": "An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA).", "synonym": [], "xref": [], "is_a": [ "HP:0025505" ], "is_obsolete": "", "replace_id": "" }, "HP:0031538": { "name": [ "abnormal dermoepidermal junction morphology", "abnormal dermoepidermal junction morphology" ], "alt_id": [], "def": "Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments.", "synonym": [], "xref": [], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0031539": { "name": [ "linear iga deposits along the epidermal basement membrane zone", "linear iga deposit along the epidermal basement membrane zone" ], "alt_id": [], "def": "Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.", "synonym": [], "xref": [], "is_a": [ "HP:0031538" ], "is_obsolete": "", "replace_id": "" }, "HP:0031540": { "name": [ "linear igg deposits along the epidermal basement membrane zone", "linear igg deposit along the epidermal basement membrane zone" ], "alt_id": [], "def": "Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.", "synonym": [], "xref": [], "is_a": [ "HP:0031538" ], "is_obsolete": "", "replace_id": "" }, "HP:0031541": { "name": [ "linear c3 deposits along the epidermal basement membrane zone", "linear c3 deposit along the epidermal basement membrane zone" ], "alt_id": [], "def": "Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.", "synonym": [], "xref": [], "is_a": [ "HP:0031538" ], "is_obsolete": "", "replace_id": "" }, "HP:0031542": { "name": [ "myelin - like whorls in vacuolated fibers", "myelin - like whorl in vacuolated fiber" ], "alt_id": [], "def": "Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner.", "synonym": [ [ "myelin - like whorls in vacuolated fibres", "myelin - like whorl in vacuolated fibre" ] ], "xref": [], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0031544": { "name": [ "elevated circulating palmitoleylcarnitine concentration", "elevate circulate palmitoleylcarnitine concentration" ], "alt_id": [ "HP:0033463" ], "def": "An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency.", "synonym": [ [ "elevated circulating o - propionylcarnitine concentration", "elevate circulate o - propionylcarnitine concentration" ], [ "elevated plasma palmitoleylcarnitine , c16:1", "elevate plasma palmitoleylcarnitine , c16:1" ], [ "elevated plasma propionylcarnitine , c3:0", "elevate plasma propionylcarnitine , c3:0" ], [ "elevated propionylcarnitine level", "elevate propionylcarnitine level" ] ], "xref": [], "is_a": [ "HP:0045045" ], "is_obsolete": "", "replace_id": "" }, "HP:0031545": { "name": [ "abnormally low t cell receptor excision circle level", "abnormally low t cell receptor excision circle level" ], "alt_id": [], "def": "Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-na\u00efve thymic emigrant T cells.", "synonym": [], "xref": [], "is_a": [ "HP:0011839" ], "is_obsolete": "", "replace_id": "" }, "HP:0031546": { "name": [ "cardiac conduction abnormality", "cardiac conduction abnormality" ], "alt_id": [], "def": "Any anomaly of the progression of electrical impulses through the heart.", "synonym": [ [ "abnormality of cardiac conduction", "abnormality of cardiac conduction" ], [ "abnormality of cardiac conduction system", "abnormality of cardiac conduction system" ], [ "cardiac conduction abnormalities", "cardiac conduction abnormality" ], [ "cardiac conduction defects", "cardiac conduction defect" ], [ "heart conduction disorder", "heart conduction disorder" ] ], "xref": [], "is_a": [ "HP:0030956" ], "is_obsolete": "", "replace_id": "" }, "HP:0031547": { "name": [ "abnormal qt interval", "abnormal qt interval" ], "alt_id": [], "def": "Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).", "synonym": [], "xref": [], "is_a": [ "HP:0003115" ], "is_obsolete": "", "replace_id": "" }, "HP:0031548": { "name": [ "follicular infundibulum tumor", "follicular infundibulum tumor" ], "alt_id": [], "def": "A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma.", "synonym": [ [ "basal cell hamartoma with follicular differentiation", "basal cell hamartoma with follicular differentiation" ], [ "follicular infundibulum tumour", "follicular infundibulum tumour" ] ], "xref": [], "is_a": [ "HP:0012842" ], "is_obsolete": "", "replace_id": "" }, "HP:0031549": { "name": [ "lymphocytoma cutis", "lymphocytoma cutis" ], "alt_id": [], "def": "Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis.", "synonym": [ [ "skin pseudolymphoma", "skin pseudolymphoma" ], [ "spiegler - fendt sarcoid", "spiegler - fendt sarcoid" ] ], "xref": [], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0031550": { "name": [ "abnormal flow cytometry test result", "abnormal flow cytometry test result" ], "alt_id": [], "def": "Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules.", "synonym": [], "xref": [], "is_a": [ "HP:0025354" ], "is_obsolete": "", "replace_id": "" }, "HP:0031551": { "name": [ "reduced cell surface marker level", "reduce cell surface marker level" ], "alt_id": [], "def": "Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry.", "synonym": [], "xref": [], "is_a": [ "HP:0031550" ], "is_obsolete": "", "replace_id": "" }, "HP:0031552": { "name": [ "reduced fibroblast surface marker level", "reduce fibroblast surface marker level" ], "alt_id": [], "def": "Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry.", "synonym": [], "xref": [], "is_a": [ "HP:0031551" ], "is_obsolete": "", "replace_id": "" }, "HP:0031553": { "name": [ "reduced granulocyte surface marker level", "reduce granulocyte surface marker level" ], "alt_id": [], "def": "Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry.", "synonym": [], "xref": [], "is_a": [ "HP:0031551" ], "is_obsolete": "", "replace_id": "" }, "HP:0031554": { "name": [ "reduced granulocyte cd55 level", "reduce granulocyte cd55 level" ], "alt_id": [], "def": "Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry.", "synonym": [], "xref": [], "is_a": [ "HP:0031553" ], "is_obsolete": "", "replace_id": "" }, "HP:0031555": { "name": [ "reduced granulocyte cd59 level", "reduce granulocyte cd59 level" ], "alt_id": [], "def": "Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry.", "synonym": [], "xref": [], "is_a": [ "HP:0031553" ], "is_obsolete": "", "replace_id": "" }, "HP:0031556": { "name": [ "reduced granulocyte cd16 level", "reduce granulocyte cd16 level" ], "alt_id": [], "def": "Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry.", "synonym": [], "xref": [], "is_a": [ "HP:0031553" ], "is_obsolete": "", "replace_id": "" }, "HP:0031557": { "name": [ "reduced fibroblast cd55 level", "reduce fibroblast cd55 level" ], "alt_id": [], "def": "Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry.", "synonym": [], "xref": [], "is_a": [ "HP:0031552" ], "is_obsolete": "", "replace_id": "" }, "HP:0031558": { "name": [ "reduced fibroblast cd59 level", "reduce fibroblast cd59 level" ], "alt_id": [], "def": "Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry.", "synonym": [], "xref": [], "is_a": [ "HP:0031552" ], "is_obsolete": "", "replace_id": "" }, "HP:0031559": { "name": [ "reduced fibroblast cd16 level", "reduce fibroblast cd16 level" ], "alt_id": [], "def": "Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry.", "synonym": [], "xref": [], "is_a": [ "HP:0031552" ], "is_obsolete": "", "replace_id": "" }, "HP:0031560": { "name": [ "coronary cameral fistula", "coronary cameral fistula" ], "alt_id": [], "def": "An abnormal communication between coronary artery and a cardiac chamber.", "synonym": [], "xref": [ "Fyler:2233" ], "is_a": [ "HP:0011641" ], "is_obsolete": "", "replace_id": "" }, "HP:0031561": { "name": [ "coronary cameral fistula to right ventricle", "coronary cameral fistula to right ventricle" ], "alt_id": [], "def": "An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.", "synonym": [], "xref": [], "is_a": [ "HP:0031560" ], "is_obsolete": "", "replace_id": "" }, "HP:0031562": { "name": [ "balanced double aortic arch", "balance double aortic arch" ], "alt_id": [], "def": "A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch.", "synonym": [], "xref": [ "Fyler:2780" ], "is_a": [ "HP:0011590" ], "is_obsolete": "", "replace_id": "" }, "HP:0031563": { "name": [ "coronary arteriovenous fistula", "coronary arteriovenous fistula" ], "alt_id": [], "def": "An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation.", "synonym": [], "xref": [ "Fyler:2240" ], "is_a": [ "HP:0011641" ], "is_obsolete": "", "replace_id": "" }, "HP:0031564": { "name": [ "bronchial isomerism", "bronchial isomerism" ], "alt_id": [], "def": "An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism).", "synonym": [], "xref": [], "is_a": [ "HP:0031853" ], "is_obsolete": "", "replace_id": "" }, "HP:0031565": { "name": [ "abdominal situs ambiguus", "abdominal situs ambiguus" ], "alt_id": [], "def": "An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.", "synonym": [], "xref": [ "Fyler:3817" ], "is_a": [ "HP:0011620" ], "is_obsolete": "", "replace_id": "" }, "HP:0031566": { "name": [ "abnormal pulmonary valve cusp morphology", "abnormal pulmonary valve cusp morphology" ], "alt_id": [], "def": "Any structural anomaly of the pulmonary valve leaflets.", "synonym": [], "xref": [ "Fyler:1652" ], "is_a": [ "HP:0001641" ], "is_obsolete": "", "replace_id": "" }, "HP:0031567": { "name": [ "abnormal aortic valve cusp morphology", "abnormal aortic valve cusp morphology" ], "alt_id": [], "def": "Any structural anomaly of the aortic valve leaflets.", "synonym": [], "xref": [ "Fyler:1480" ], "is_a": [ "HP:0001646" ], "is_obsolete": "", "replace_id": "" }, "HP:0031568": { "name": [ "thickened aortic valve cusp", "thicken aortic valve cusp" ], "alt_id": [], "def": "An abnormally increased thickness of a leaflet of the aortic valve.", "synonym": [], "xref": [ "Fyler:1486" ], "is_a": [ "HP:0031567" ], "is_obsolete": "", "replace_id": "" }, "HP:0031569": { "name": [ "absent aortic valve cusps", "absent aortic valve cusp" ], "alt_id": [], "def": "A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.", "synonym": [ [ "absent aortic valve", "absent aortic valve" ] ], "xref": [ "Fyler:1484" ], "is_a": [ "HP:0031567" ], "is_obsolete": "", "replace_id": "" }, "HP:0031570": { "name": [ "tessier number 0 facial cleft", "tessier number 0 facial cleft" ], "alt_id": [], "def": "A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension.", "synonym": [ [ "tessier facial cleft number 0", "tessier facial cleft number 0" ] ], "xref": [], "is_a": [ "HP:0100629" ], "is_obsolete": "", "replace_id": "" }, "HP:0031571": { "name": [ "paramedian facial cleft", "paramedian facial cleft" ], "alt_id": [], "def": "A type of facial cleft located near to but not directly on the midline of the face.", "synonym": [], "xref": [], "is_a": [ "HP:0002006" ], "is_obsolete": "", "replace_id": "" }, "HP:0031572": { "name": [ "tessier number 1 facial cleft", "tessier number 1 facial cleft" ], "alt_id": [], "def": "As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly.", "synonym": [], "xref": [], "is_a": [ "HP:0031571" ], "is_obsolete": "", "replace_id": "" }, "HP:0031573": { "name": [ "tessier number 2 facial cleft", "tessier number 2 facial cleft" ], "alt_id": [], "def": "As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening.", "synonym": [], "xref": [], "is_a": [ "HP:0031571" ], "is_obsolete": "", "replace_id": "" }, "HP:0031574": { "name": [ "orbital cleft", "orbital cleft" ], "alt_id": [], "def": "A facial cleft characterized by involvement of the orbit.", "synonym": [], "xref": [], "is_a": [ "HP:0002006" ], "is_obsolete": "", "replace_id": "" }, "HP:0031575": { "name": [ "tessier number 3 facial cleft", "tessier number 3 facial cleft" ], "alt_id": [], "def": "As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced.", "synonym": [], "xref": [], "is_a": [ "HP:0031574" ], "is_obsolete": "", "replace_id": "" }, "HP:0031576": { "name": [ "tessier number 4 facial cleft", "tessier number 4 facial cleft" ], "alt_id": [], "def": "The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly.", "synonym": [], "xref": [], "is_a": [ "HP:0031574" ], "is_obsolete": "", "replace_id": "" }, "HP:0031577": { "name": [ "tessier number 5 facial cleft", "tessier number 5 facial cleft" ], "alt_id": [], "def": "The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium.", "synonym": [], "xref": [], "is_a": [ "HP:0031574" ], "is_obsolete": "", "replace_id": "" }, "HP:0031578": { "name": [ "tessier number 6 facial cleft", "tessier number 6 facial cleft" ], "alt_id": [], "def": "A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid.", "synonym": [ [ "tessier facial cleft number 6", "tessier facial cleft number 6" ] ], "xref": [], "is_a": [ "HP:0100731" ], "is_obsolete": "", "replace_id": "" }, "HP:0031579": { "name": [ "tessier number 7 facial cleft", "tessier number 7 facial cleft" ], "alt_id": [], "def": "The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate.", "synonym": [ [ "tessier cleft number 7", "tessier cleave number 7" ], [ "tessier facial cleft number 7", "tessier facial cleft number 7" ] ], "xref": [], "is_a": [ "HP:0100731" ], "is_obsolete": "", "replace_id": "" }, "HP:0031580": { "name": [ "tessier number 8 facial cleft", "tessier number 8 facial cleft" ], "alt_id": [], "def": "The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae.", "synonym": [ [ "tessier facial cleft number 8", "tessier facial cleft number 8" ] ], "xref": [], "is_a": [ "HP:0100731" ], "is_obsolete": "", "replace_id": "" }, "HP:0031581": { "name": [ "tessier number 9 facial cleft", "tessier number 9 facial cleft" ], "alt_id": [], "def": "This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa.", "synonym": [], "xref": [], "is_a": [ "HP:0031574" ], "is_obsolete": "", "replace_id": "" }, "HP:0031582": { "name": [ "tessier number 10 facial cleft", "tessier number 10 facial cleft" ], "alt_id": [], "def": "In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric.", "synonym": [], "xref": [], "is_a": [ "HP:0031574" ], "is_obsolete": "", "replace_id": "" }, "HP:0031583": { "name": [ "tessier number 11 facial cleft", "tessier number 11 facial cleft" ], "alt_id": [], "def": "An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal.", "synonym": [], "xref": [], "is_a": [ "HP:0031574" ], "is_obsolete": "", "replace_id": "" }, "HP:0031584": { "name": [ "tessier number 12 facial cleft", "tessier number 12 facial cleft" ], "alt_id": [], "def": "There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate.", "synonym": [], "xref": [], "is_a": [ "HP:0031571" ], "is_obsolete": "", "replace_id": "" }, "HP:0031585": { "name": [ "tessier number 13 facial cleft", "tessier number 13 facial cleft" ], "alt_id": [], "def": "There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above.", "synonym": [], "xref": [], "is_a": [ "HP:0031571" ], "is_obsolete": "", "replace_id": "" }, "HP:0031586": { "name": [ "tessier number 14 facial cleft", "tessier number 14 facial cleft" ], "alt_id": [], "def": "This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan.", "synonym": [ [ "tessier facial cleft number 14", "tessier facial cleft number 14" ] ], "xref": [], "is_a": [ "HP:0100629" ], "is_obsolete": "", "replace_id": "" }, "HP:0031587": { "name": [ "tessier number 30 facial cleft", "tessier number 30 facial cleft" ], "alt_id": [], "def": "A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis.", "synonym": [], "xref": [], "is_a": [ "HP:0100629" ], "is_obsolete": "", "replace_id": "" }, "HP:0031588": { "name": [ "unhappy demeanor", "unhappy demeanor" ], "alt_id": [], "def": "A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events.", "synonym": [ [ "unhappy demeanour", "unhappy demeanour" ] ], "xref": [], "is_a": [ "HP:0100851" ], "is_obsolete": "", "replace_id": "" }, "HP:0031589": { "name": [ "suicidal ideation", "suicidal ideation" ], "alt_id": [], "def": "Frequent thinking about or preoccupation with killing oneself.", "synonym": [ [ "suicidality", "suicidality" ] ], "xref": [], "is_a": [ "HP:0100851" ], "is_obsolete": "", "replace_id": "" }, "HP:0031590": { "name": [ "asthenopia", "asthenopia" ], "alt_id": [], "def": "Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache.", "synonym": [ [ "eye strain", "eye strain" ] ], "xref": [], "is_a": [ "HP:0012373" ], "is_obsolete": "", "replace_id": "" }, "HP:0031591": { "name": [ "enlarged eustachian valve", "enlarge eustachian valve" ], "alt_id": [], "def": "An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava.", "synonym": [ [ "enlarged inferior vena cava valve", "enlarge inferior vena cava valve" ], [ "giant eustachian valve", "giant eustachian valve" ] ], "xref": [], "is_a": [ "HP:0025576" ], "is_obsolete": "", "replace_id": "" }, "HP:0031592": { "name": [ "situs inversus with levocardia", "situs inversus with levocardia" ], "alt_id": [], "def": "Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia.", "synonym": [], "xref": [], "is_a": [ "HP:0011534" ], "is_obsolete": "", "replace_id": "" }, "HP:0031593": { "name": [ "abnormal pr interval", "abnormal pr interval" ], "alt_id": [], "def": "An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds.", "synonym": [], "xref": [], "is_a": [ "HP:0003115" ], "is_obsolete": "", "replace_id": "" }, "HP:0031594": { "name": [ "pr segment depression", "pr segment depression" ], "alt_id": [], "def": "A reduction in voltage of the PR segment below baseline.", "synonym": [ [ "pr interval depression", "pr interval depression" ], [ "pta depression", "pta depression" ] ], "xref": [], "is_a": [ "HP:0031596" ], "is_obsolete": "", "replace_id": "" }, "HP:0031595": { "name": [ "abnormal p wave", "abnormal p wave" ], "alt_id": [], "def": "Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.", "synonym": [], "xref": [], "is_a": [ "HP:0003115" ], "is_obsolete": "", "replace_id": "" }, "HP:0031596": { "name": [ "abnormal pr segment", "abnormal pr segment" ], "alt_id": [], "def": "An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric.", "synonym": [], "xref": [], "is_a": [ "HP:0003115" ], "is_obsolete": "", "replace_id": "" }, "HP:0031597": { "name": [ "pr segment elevation", "pr segment elevation" ], "alt_id": [], "def": "An increase in voltage of the PR segment above baseline.", "synonym": [ [ "pr interval elevation", "pr interval elevation" ], [ "pta elevation", "pta elevation" ] ], "xref": [], "is_a": [ "HP:0031596" ], "is_obsolete": "", "replace_id": "" }, "HP:0031598": { "name": [ "notched p wave", "notch p wave" ], "alt_id": [], "def": "V-shaped cut (notch) in the middle of the P wave.", "synonym": [], "xref": [], "is_a": [ "HP:0031595" ], "is_obsolete": "", "replace_id": "" }, "HP:0031599": { "name": [ "p mitrale", "p mitrale" ], "alt_id": [], "def": "A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II.", "synonym": [], "xref": [], "is_a": [ "HP:0031595" ], "is_obsolete": "", "replace_id": "" }, "HP:0031600": { "name": [ "p wave inversion", "p wave inversion" ], "alt_id": [], "def": "P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves.", "synonym": [], "xref": [], "is_a": [ "HP:0031595" ], "is_obsolete": "", "replace_id": "" }, "HP:0031601": { "name": [ "p pulmonale", "p pulmonale" ], "alt_id": [], "def": "The presence of tall, peaked P waves in EKG lead II.", "synonym": [], "xref": [], "is_a": [ "HP:0031595" ], "is_obsolete": "", "replace_id": "" }, "HP:0031602": { "name": [ "abnormal mucociliary clearance", "abnormal mucociliary clearance" ], "alt_id": [], "def": "An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary \\nbeating.", "synonym": [ [ "abnormal mucociliary transport", "abnormal mucociliary transport" ] ], "xref": [], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0031603": { "name": [ "impaired nasal mucociliary clearance", "impaired nasal mucociliary clearance" ], "alt_id": [], "def": "An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes.", "synonym": [ [ "abnormal saccharine test", "abnormal saccharine test" ] ], "xref": [], "is_a": [ "HP:0031602" ], "is_obsolete": "", "replace_id": "" }, "HP:0031604": { "name": [ "agenesis of the carotid canal", "agenesis of the carotid canal" ], "alt_id": [], "def": "A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.", "synonym": [ [ "bony carotid canal agenesis", "bony carotid canal agenesis" ] ], "xref": [], "is_a": [ "HP:0009911" ], "is_obsolete": "", "replace_id": "" }, "HP:0031605": { "name": [ "abnormality of fundus pigmentation", "abnormality of fundus pigmentation" ], "alt_id": [], "def": "Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve.", "synonym": [], "xref": [], "is_a": [ "HP:0001098" ], "is_obsolete": "", "replace_id": "" }, "HP:0031606": { "name": [ "retinal cotton wool spot", "retinal cotton wool spot" ], "alt_id": [], "def": "Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.", "synonym": [], "xref": [], "is_a": [ "HP:0030506" ], "is_obsolete": "", "replace_id": "" }, "HP:0031607": { "name": [ "pelvic organ prolapse", "pelvic organ prolapse" ], "alt_id": [], "def": "Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position.", "synonym": [], "xref": [], "is_a": [ "HP:0001438" ], "is_obsolete": "", "replace_id": "" }, "HP:0031609": { "name": [ "geographic atrophy", "geographic atrophy" ], "alt_id": [], "def": "Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.", "synonym": [], "xref": [], "is_a": [ "HP:0001105" ], "is_obsolete": "", "replace_id": "" }, "HP:0031610": { "name": [ "recurrent shoulder dislocation", "recurrent shoulder dislocation" ], "alt_id": [], "def": "Shoulder dislocation occurring repeated times.", "synonym": [ [ "multiple shoulder dislocation", "multiple shoulder dislocation" ] ], "xref": [], "is_a": [ "HP:0003834", "HP:0031869" ], "is_obsolete": "", "replace_id": "" }, "HP:0031611": { "name": [ "sub - inner limiting membrane hemorrhage", "sub - inner limit membrane hemorrhage" ], "alt_id": [], "def": "A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer.", "synonym": [ [ "sub - ilm haemorrhage", "sub - ilm haemorrhage" ], [ "sub - ilm hemorrhage", "sub - ilm hemorrhage" ], [ "sub - inner limiting membrane haemorrhage", "sub - inner limit membrane haemorrhage" ] ], "xref": [], "is_a": [ "HP:0000573" ], "is_obsolete": "", "replace_id": "" }, "HP:0031613": { "name": [ "inferior chorioretinal coloboma", "inferior chorioretinal coloboma" ], "alt_id": [], "def": "Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus.", "synonym": [], "xref": [], "is_a": [ "HP:0000567" ], "is_obsolete": "", "replace_id": "" }, "HP:0031614": { "name": [ "inferior retinal coloboma", "inferior retinal coloboma" ], "alt_id": [], "def": "A notch or cleft of the lower part of the retina.", "synonym": [], "xref": [], "is_a": [ "HP:0000480" ], "is_obsolete": "", "replace_id": "" }, "HP:0031615": { "name": [ "hypopyon", "hypopyon" ], "alt_id": [], "def": "Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber.", "synonym": [], "xref": [], "is_a": [ "HP:0000593" ], "is_obsolete": "", "replace_id": "" }, "HP:0031616": { "name": [ "anterior chamber flare", "anterior chamber flare" ], "alt_id": [], "def": "An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber.", "synonym": [], "xref": [], "is_a": [ "HP:0000593" ], "is_obsolete": "", "replace_id": "" }, "HP:0031618": { "name": [ "anterior chamber flare grade 1+", "anterior chamber flare grade 1+" ], "alt_id": [], "def": "Faint anterior chamber flare.", "synonym": [], "xref": [], "is_a": [ "HP:0031616" ], "is_obsolete": "", "replace_id": "" }, "HP:0031619": { "name": [ "anterior chamber flare grade 2+", "anterior chamber flare grade 2+" ], "alt_id": [], "def": "Moderate anterior chamber flare (iris and lens details clear).", "synonym": [], "xref": [], "is_a": [ "HP:0031616" ], "is_obsolete": "", "replace_id": "" }, "HP:0031620": { "name": [ "anterior chamber flare grade 3+", "anterior chamber flare grade 3+" ], "alt_id": [], "def": "Marked anterior chamber flare (iris and lens details hazy).", "synonym": [], "xref": [], "is_a": [ "HP:0031616" ], "is_obsolete": "", "replace_id": "" }, "HP:0031621": { "name": [ "anterior chamber flare grade 4+", "anterior chamber flare grade 4+" ], "alt_id": [], "def": "Intense anterior chamber flare (fibrin/plastic aqueous).", "synonym": [], "xref": [], "is_a": [ "HP:0031616" ], "is_obsolete": "", "replace_id": "" }, "HP:0031622": { "name": [ "brown anomaly", "brown anomaly" ], "alt_id": [], "def": "An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result.", "synonym": [ [ "brown syndrome", "brown syndrome" ] ], "xref": [], "is_a": [ "HP:0025068" ], "is_obsolete": "", "replace_id": "" }, "HP:0031623": { "name": [ "brow ptosis", "brow ptosis" ], "alt_id": [], "def": "Drooping of the upper eyebrow below the superior orbital rim.", "synonym": [ [ "drooping brow", "droop brow" ] ], "xref": [], "is_a": [ "HP:0000534" ], "is_obsolete": "", "replace_id": "" }, "HP:0031624": { "name": [ "moderate myopia", "moderate myopia" ], "alt_id": [], "def": "A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.", "synonym": [], "xref": [], "is_a": [ "HP:0000545" ], "is_obsolete": "", "replace_id": "" }, "HP:0031625": { "name": [ "pseudoaneurysm", "pseudoaneurysm" ], "alt_id": [], "def": "A contained rupture of an artery with a disruption in all 3 layers of the arterial wall.", "synonym": [], "xref": [], "is_a": [ "HP:0002617" ], "is_obsolete": "", "replace_id": "" }, "HP:0031626": { "name": [ "coronary ostial atresia", "coronary ostial atresia" ], "alt_id": [], "def": "Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve.", "synonym": [ [ "atresia of coronary ostium", "atresia of coronary ostium" ] ], "xref": [], "is_a": [ "HP:0011636" ], "is_obsolete": "", "replace_id": "" }, "HP:0031627": { "name": [ "globus pallidus calcification", "globus pallidus calcification" ], "alt_id": [], "def": "Pathological deposition of calcium salts in the globus pallidus.", "synonym": [], "xref": [], "is_a": [ "HP:0002453" ], "is_obsolete": "", "replace_id": "" }, "HP:0031628": { "name": [ "aborted sudden cardiac death", "abort sudden cardiac death" ], "alt_id": [], "def": "Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.", "synonym": [ [ "sudden cardiac arrest", "sudden cardiac arrest" ] ], "xref": [], "is_a": [ "HP:0001695" ], "is_obsolete": "", "replace_id": "" }, "HP:0031629": { "name": [ "impaired tandem gait", "impaired tandem gait" ], "alt_id": [], "def": "Reduced ability to walk in a straight line while placing the feet heel to toe.", "synonym": [ [ "clumsy tandem walking", "clumsy tandem walking" ] ], "xref": [], "is_a": [ "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0031630": { "name": [ "abnormal subpleural morphology", "abnormal subpleural morphology" ], "alt_id": [], "def": "Any structural anomaly located between the pleura and the chest wall.", "synonym": [], "xref": [], "is_a": [ "HP:0002088" ], "is_obsolete": "", "replace_id": "" }, "HP:0031631": { "name": [ "subpleural honeycombing", "subpleural honeycombing" ], "alt_id": [], "def": "So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space.", "synonym": [], "xref": [], "is_a": [ "HP:0031630" ], "is_obsolete": "", "replace_id": "" }, "HP:0031632": { "name": [ "anomalous origin of the right subclavian artery from the descending aorta", "anomalous origin of the right subclavian artery from the descending aorta" ], "alt_id": [], "def": "Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery.", "synonym": [], "xref": [], "is_a": [ "HP:0031251" ], "is_obsolete": "", "replace_id": "" }, "HP:0031633": { "name": [ "isolation of the left subclavian artery", "isolation of the left subclavian artery" ], "alt_id": [], "def": "The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus.", "synonym": [], "xref": [ "Fyler:2732" ], "is_a": [ "HP:0031251" ], "is_obsolete": "", "replace_id": "" }, "HP:0031634": { "name": [ "anomalous origin of the left common carotid artery from the main pulmonary artery", "anomalous origin of the left common carotid artery from the main pulmonary artery" ], "alt_id": [], "def": "The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery.", "synonym": [], "xref": [], "is_a": [ "HP:0430021" ], "is_obsolete": "", "replace_id": "" }, "HP:0031635": { "name": [ "anomalous origin of the left common carotid artery from the brachiocephalic artery", "anomalous origin of the left common carotid artery from the brachiocephalic artery" ], "alt_id": [], "def": "The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery.", "synonym": [ [ "anomalous origin of the left common carotid artery from the brachiocephalic trunk", "anomalous origin of the left common carotid artery from the brachiocephalic trunk" ] ], "xref": [], "is_a": [ "HP:0430021" ], "is_obsolete": "", "replace_id": "" }, "HP:0031636": { "name": [ "anomalous origin of the right common carotid artery from the aorta", "anomalous origin of the right common carotid artery from the aorta" ], "alt_id": [], "def": "The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta.", "synonym": [], "xref": [], "is_a": [ "HP:0430021" ], "is_obsolete": "", "replace_id": "" }, "HP:0031637": { "name": [ "right coronary artery ostial atresia", "right coronary artery ostial atresia" ], "alt_id": [], "def": "Absence of the normal opening of the coronary ostium from which the right main coronary artery originates.", "synonym": [], "xref": [], "is_a": [ "HP:0031626" ], "is_obsolete": "", "replace_id": "" }, "HP:0031638": { "name": [ "anomalous origin of the left anterior descending artery from the pulmonary artery", "anomalous origin of the left anterior descend artery from the pulmonary artery" ], "alt_id": [], "def": "The left anterior descending artery (LAD) branches off from the pulmonary artery.", "synonym": [], "xref": [], "is_a": [ "HP:0011637" ], "is_obsolete": "", "replace_id": "" }, "HP:0031639": { "name": [ "absent left main coronary artery", "absent leave main coronary artery" ], "alt_id": [], "def": "The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava.", "synonym": [ [ "absent lmca", "absent lmca" ] ], "xref": [], "is_a": [ "HP:0011636" ], "is_obsolete": "", "replace_id": "" }, "HP:0031640": { "name": [ "abnormal radial artery morphology", "abnormal radial artery morphology" ], "alt_id": [], "def": "Any structural anomaly of the radial artery.", "synonym": [], "xref": [], "is_a": [ "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:0031643": { "name": [ "fusiform ascending tubular aorta aneurysm", "fusiform ascend tubular aorta aneurysm" ], "alt_id": [], "def": "An eccentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves only a portion of the circumference of the vessel wall.", "synonym": [], "xref": [], "is_a": [ "HP:0004970" ], "is_obsolete": "", "replace_id": "" }, "HP:0031644": { "name": [ "fusiform abdominal aortic aneurysm", "fusiform abdominal aortic aneurysm" ], "alt_id": [], "def": "A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall", "synonym": [], "xref": [], "is_a": [ "HP:0005112" ], "is_obsolete": "", "replace_id": "" }, "HP:0031645": { "name": [ "saccular abdominal aortic aneurysm", "saccular abdominal aortic aneurysm" ], "alt_id": [], "def": "An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall.", "synonym": [], "xref": [], "is_a": [ "HP:0005112" ], "is_obsolete": "", "replace_id": "" }, "HP:0031646": { "name": [ "fusiform aortic arch aneurysm", "fusiform aortic arch aneurysm" ], "alt_id": [], "def": "A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall.", "synonym": [], "xref": [], "is_a": [ "HP:0005113" ], "is_obsolete": "", "replace_id": "" }, "HP:0031647": { "name": [ "saccular aortic arch aneurysm", "saccular aortic arch aneurysm" ], "alt_id": [], "def": "An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall.", "synonym": [], "xref": [], "is_a": [ "HP:0005113" ], "is_obsolete": "", "replace_id": "" }, "HP:0031648": { "name": [ "penetrating aortic ulcer", "penetrate aortic ulcer" ], "alt_id": [], "def": "A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.", "synonym": [], "xref": [], "is_a": [ "HP:0001679" ], "is_obsolete": "", "replace_id": "" }, "HP:0031649": { "name": [ "aortic rupture", "aortic rupture" ], "alt_id": [], "def": "Tearing of the aortic wall generally associated with profuse internal bleeding.", "synonym": [], "xref": [], "is_a": [ "HP:0001679" ], "is_obsolete": "", "replace_id": "" }, "HP:0031650": { "name": [ "abnormal atrioventricular valve physiology", "abnormal atrioventricular valve physiology" ], "alt_id": [], "def": "Any functional defect of the mitral or tricuspid valve.", "synonym": [], "xref": [], "is_a": [ "HP:0031653" ], "is_obsolete": "", "replace_id": "" }, "HP:0031651": { "name": [ "abnormal tricuspid valve physiology", "abnormal tricuspid valve physiology" ], "alt_id": [], "def": "Any functional defect of the tricuspid valve.", "synonym": [], "xref": [], "is_a": [ "HP:0031650" ], "is_obsolete": "", "replace_id": "" }, "HP:0031652": { "name": [ "abnormal aortic valve physiology", "abnormal aortic valve physiology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0031653" ], "is_obsolete": "", "replace_id": "" }, "HP:0031653": { "name": [ "abnormal heart valve physiology", "abnormal heart valve physiology" ], "alt_id": [], "def": "Any functional abnormality of a cardiac valve.", "synonym": [], "xref": [], "is_a": [ "HP:0011025" ], "is_obsolete": "", "replace_id": "" }, "HP:0031654": { "name": [ "abnormal pulmonary valve physiology", "abnormal pulmonary valve physiology" ], "alt_id": [], "def": "Any functional anomaly of the pumonary valve.", "synonym": [], "xref": [], "is_a": [ "HP:0031653" ], "is_obsolete": "", "replace_id": "" }, "HP:0031655": { "name": [ "quadricuspid aortic valve", "quadricuspid aortic valve" ], "alt_id": [], "def": "The presence of an aortic valve with four instead of the normal three cusps (flaps).", "synonym": [], "xref": [], "is_a": [ "HP:0031567" ], "is_obsolete": "", "replace_id": "" }, "HP:0031656": { "name": [ "systolic anterior motion of the mitral valve", "systolic anterior motion of the mitral valve" ], "alt_id": [], "def": "Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.", "synonym": [], "xref": [], "is_a": [ "HP:0031481" ], "is_obsolete": "", "replace_id": "" }, "HP:0031657": { "name": [ "abnormal heart sound", "abnormal heart sound" ], "alt_id": [], "def": "Any abnormal noise generated by the beating heart.", "synonym": [], "xref": [], "is_a": [ "HP:0011025" ], "is_obsolete": "", "replace_id": "" }, "HP:0031658": { "name": [ "third heart sound", "third heart sound" ], "alt_id": [], "def": "The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients.", "synonym": [ [ "ventricular gallop", "ventricular gallop" ] ], "xref": [], "is_a": [ "HP:0033113" ], "is_obsolete": "", "replace_id": "" }, "HP:0031659": { "name": [ "fourth heart sound", "fourth heart sound" ], "alt_id": [], "def": "The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction.", "synonym": [ [ "atrial gallop", "atrial gallop" ], [ "presystolic gallop", "presystolic gallop" ] ], "xref": [], "is_a": [ "HP:0033113" ], "is_obsolete": "", "replace_id": "" }, "HP:0031660": { "name": [ "loud first heart sound", "loud first heart sound" ], "alt_id": [], "def": "Abnormally increased volume of the first heart sound.", "synonym": [], "xref": [], "is_a": [ "HP:0031657" ], "is_obsolete": "", "replace_id": "" }, "HP:0031661": { "name": [ "abnormal second heart sound", "abnormal second heart sound" ], "alt_id": [], "def": "Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration.", "synonym": [], "xref": [], "is_a": [ "HP:0031657" ], "is_obsolete": "", "replace_id": "" }, "HP:0031662": { "name": [ "fixed splitting of the second heart sound", "fix splitting of the second heart sound" ], "alt_id": [], "def": "Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration.", "synonym": [ [ "fixed splitting of s2", "fix splitting of s2" ] ], "xref": [], "is_a": [ "HP:0031661" ], "is_obsolete": "", "replace_id": "" }, "HP:0031663": { "name": [ "paradoxical splitting of the second heart sound", "paradoxical splitting of the second heart sound" ], "alt_id": [], "def": "Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern).", "synonym": [ [ "paradoxical splitting of s2", "paradoxical splitting of s2" ], [ "reversed splitting of s2", "reverse splitting of s2" ], [ "reversed splitting of the second heart sound", "reverse splitting of the second heart sound" ] ], "xref": [], "is_a": [ "HP:0031661" ], "is_obsolete": "", "replace_id": "" }, "HP:0031664": { "name": [ "systolic heart murmur", "systolic heart murmur" ], "alt_id": [], "def": "A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.", "synonym": [], "xref": [], "is_a": [ "HP:0030148" ], "is_obsolete": "", "replace_id": "" }, "HP:0031665": { "name": [ "midsystolic murmur", "midsystolic murmur" ], "alt_id": [], "def": "A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern.", "synonym": [], "xref": [], "is_a": [ "HP:0031664" ], "is_obsolete": "", "replace_id": "" }, "HP:0031666": { "name": [ "late systolic murmur", "late systolic murmur" ], "alt_id": [], "def": "A murmur that occurs in the latter phase of systole.", "synonym": [], "xref": [], "is_a": [ "HP:0031664" ], "is_obsolete": "", "replace_id": "" }, "HP:0031667": { "name": [ "holosystolic murmur", "holosystolic murmur" ], "alt_id": [], "def": "A heart murmur that occurs during the entire systolic phase from S1 to S2.", "synonym": [], "xref": [], "is_a": [ "HP:0031664" ], "is_obsolete": "", "replace_id": "" }, "HP:0031668": { "name": [ "diastolic heart murmur", "diastolic heart murmur" ], "alt_id": [], "def": "A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1.", "synonym": [], "xref": [], "is_a": [ "HP:0030148" ], "is_obsolete": "", "replace_id": "" }, "HP:0031669": { "name": [ "middiastolic murmur", "middiastolic murmur" ], "alt_id": [], "def": "A murmur that occurs in the middle of the diastolic phase.", "synonym": [], "xref": [], "is_a": [ "HP:0031668" ], "is_obsolete": "", "replace_id": "" }, "HP:0031670": { "name": [ "continuous heart murmur", "continuous heart murmur" ], "alt_id": [], "def": "A murmur that occurs in both systole and diastole.", "synonym": [], "xref": [], "is_a": [ "HP:0030148" ], "is_obsolete": "", "replace_id": "" }, "HP:0031671": { "name": [ "typical atrial flutter", "typical atrial flutter" ], "alt_id": [], "def": "Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.", "synonym": [], "xref": [], "is_a": [ "HP:0004749" ], "is_obsolete": "", "replace_id": "" }, "HP:0031672": { "name": [ "reverse typical atrial flutter", "reverse typical atrial flutter" ], "alt_id": [], "def": "A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1.", "synonym": [], "xref": [], "is_a": [ "HP:0004749" ], "is_obsolete": "", "replace_id": "" }, "HP:0031673": { "name": [ "orthodromic atrioventricular reentrant tachycardia", "orthodromic atrioventricular reentrant tachycardia" ], "alt_id": [], "def": "A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction.", "synonym": [ [ "orthodromic avrt", "orthodromic avrt" ] ], "xref": [], "is_a": [ "HP:0011717" ], "is_obsolete": "", "replace_id": "" }, "HP:0031674": { "name": [ "antidromic atrioventricular reentrant tachycardia", "antidromic atrioventricular reentrant tachycardia" ], "alt_id": [], "def": "A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction.", "synonym": [ [ "antidromic avrt", "antidromic avrt" ] ], "xref": [], "is_a": [ "HP:0011717" ], "is_obsolete": "", "replace_id": "" }, "HP:0031675": { "name": [ "fascicular left ventricular tachycardia", "fascicular leave ventricular tachycardia" ], "alt_id": [], "def": "A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG).", "synonym": [], "xref": [], "is_a": [ "HP:0004756" ], "is_obsolete": "", "replace_id": "" }, "HP:0031676": { "name": [ "monomorphic ventricular tachycardia", "monomorphic ventricular tachycardia" ], "alt_id": [], "def": "A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so).", "synonym": [], "xref": [], "is_a": [ "HP:0004756" ], "is_obsolete": "", "replace_id": "" }, "HP:0031677": { "name": [ "polymorphic ventricular tachycardia", "polymorphic ventricular tachycardia" ], "alt_id": [], "def": "A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat).", "synonym": [], "xref": [], "is_a": [ "HP:0004756" ], "is_obsolete": "", "replace_id": "" }, "HP:0031678": { "name": [ "atherosclerotic lesion", "atherosclerotic lesion" ], "alt_id": [], "def": "A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus.", "synonym": [], "xref": [], "is_a": [ "HP:0002621" ], "is_obsolete": "", "replace_id": "" }, "HP:0031679": { "name": [ "type i atherosclerotic lesion", "type i atherosclerotic lesion" ], "alt_id": [], "def": "Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells).", "synonym": [], "xref": [], "is_a": [ "HP:0031678" ], "is_obsolete": "", "replace_id": "" }, "HP:0031680": { "name": [ "type ii atherosclerotic lesion", "type ii atherosclerotic lesion" ], "alt_id": [], "def": "Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid.", "synonym": [], "xref": [], "is_a": [ "HP:0031678" ], "is_obsolete": "", "replace_id": "" }, "HP:0031681": { "name": [ "type iii atherosclerotic lesion", "type iii atherosclerotic lesion" ], "alt_id": [], "def": "Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions.", "synonym": [], "xref": [], "is_a": [ "HP:0031678" ], "is_obsolete": "", "replace_id": "" }, "HP:0031682": { "name": [ "type v atherosclerotic lesion", "type v atherosclerotic lesion" ], "alt_id": [], "def": "Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant.", "synonym": [], "xref": [], "is_a": [ "HP:0031678" ], "is_obsolete": "", "replace_id": "" }, "HP:0031683": { "name": [ "type vi atherosclerotic lesion", "type vi atherosclerotic lesion" ], "alt_id": [], "def": "Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes.", "synonym": [], "xref": [], "is_a": [ "HP:0031678" ], "is_obsolete": "", "replace_id": "" }, "HP:0031684": { "name": [ "renal artery atherosclerosis", "renal artery atherosclerosis" ], "alt_id": [], "def": "An atherosclerotic lesion located in the renal artery.", "synonym": [], "xref": [], "is_a": [ "HP:0008776" ], "is_obsolete": "", "replace_id": "" }, "HP:0031685": { "name": [ "abnormal stool composition", "abnormal stool composition" ], "alt_id": [ "HP:0032483" ], "def": "Abnormal level of metabolite or other abnormal analyte result in a stool test.", "synonym": [ [ "abnormal faeces composition", "abnormal faeces composition" ], [ "abnormal fecal test result", "abnormal fecal test result" ], [ "abnormal feces composition", "abnormal feces composition" ] ], "xref": [], "is_a": [ "HP:0001939", "HP:0025033" ], "is_obsolete": "", "replace_id": "" }, "HP:0031686": { "name": [ "increased stool alpha1 - antitrypsin concentration", "increase stool alpha1 - antitrypsin concentration" ], "alt_id": [], "def": "An abnormally elevated amount of alpha1-antitrypsin in the feces.", "synonym": [], "xref": [], "is_a": [ "HP:0031685" ], "is_obsolete": "", "replace_id": "" }, "HP:0031687": { "name": [ "abnormally loud pulmonic component of the second heart sound", "abnormally loud pulmonic component of the second heart sound" ], "alt_id": [], "def": "", "synonym": [ [ "accentuation of the pulmonic component of the second heart sound", "accentuation of the pulmonic component of the second heart sound" ] ], "xref": [], "is_a": [ "HP:0031661" ], "is_obsolete": "", "replace_id": "" }, "HP:0031688": { "name": [ "erythroid dysplasia", "erythroid dysplasia" ], "alt_id": [], "def": "Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.", "synonym": [], "xref": [], "is_a": [ "HP:0012130" ], "is_obsolete": "", "replace_id": "" }, "HP:0031689": { "name": [ "megakaryocyte dysplasia", "megakaryocyte dysplasia" ], "alt_id": [], "def": "The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.", "synonym": [ [ "dysmegakaryopoiesis", "dysmegakaryopoiesis" ] ], "xref": [], "is_a": [ "HP:0012143" ], "is_obsolete": "", "replace_id": "" }, "HP:0031690": { "name": [ "opportunistic infection", "opportunistic infection" ], "alt_id": [], "def": "An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.", "synonym": [], "xref": [], "is_a": [ "HP:0032101" ], "is_obsolete": "", "replace_id": "" }, "HP:0031691": { "name": [ "severe viral infection", "severe viral infection" ], "alt_id": [], "def": "An unusually severe viral infection.", "synonym": [], "xref": [], "is_a": [ "HP:0032169" ], "is_obsolete": "", "replace_id": "" }, "HP:0031692": { "name": [ "severe cytomegalovirus infection", "severe cytomegalovirus infection" ], "alt_id": [], "def": "An unusually severe infection by cytomegalovirus.", "synonym": [], "xref": [], "is_a": [ "HP:0031691" ], "is_obsolete": "", "replace_id": "" }, "HP:0031693": { "name": [ "severe epstein barr virus infection", "severe epstein barr virus infection" ], "alt_id": [], "def": "An unusually severe Epstein Barr virus (EBV) infection.", "synonym": [ [ "fulminant infectious mononucleosis", "fulminant infectious mononucleosis" ], [ "severe ebv infection", "severe ebv infection" ] ], "xref": [], "is_a": [ "HP:0031691" ], "is_obsolete": "", "replace_id": "" }, "HP:0031694": { "name": [ "severe adenovirus infection", "severe adenovirus infection" ], "alt_id": [], "def": "An unusually severe adenovirus infection.", "synonym": [], "xref": [], "is_a": [ "HP:0031691" ], "is_obsolete": "", "replace_id": "" }, "HP:0031695": { "name": [ "severe parainfluenza infection", "severe parainfluenza infection" ], "alt_id": [], "def": "An unusually severe infection by a parainfluenza virus.", "synonym": [], "xref": [], "is_a": [ "HP:0031691" ], "is_obsolete": "", "replace_id": "" }, "HP:0031696": { "name": [ "disseminated viral infection", "disseminate viral infection" ], "alt_id": [], "def": "A viral infection that fails to be contained by the immune sytem and spreads throughout the body.", "synonym": [], "xref": [], "is_a": [ "HP:0033432" ], "is_obsolete": "", "replace_id": "" }, "HP:0031697": { "name": [ "disseminated infection with live vaccine virus", "disseminate infection with live vaccine virus" ], "alt_id": [], "def": "A dissemination viral infection caused by a live attenuated vaccine virus.", "synonym": [], "xref": [], "is_a": [ "HP:0031696" ], "is_obsolete": "", "replace_id": "" }, "HP:0031698": { "name": [ "obsolete disseminated bacillus calmette - guerin infection", "obsolete disseminate bacillus calmette - guerin infection" ], "alt_id": [], "def": "Failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0020087" }, "HP:0031699": { "name": [ "disseminated cryptosporidium infection", "disseminated cryptosporidium infection" ], "alt_id": [], "def": "Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body.", "synonym": [], "xref": [], "is_a": [ "HP:0020104", "HP:0031690" ], "is_obsolete": "", "replace_id": "" }, "HP:0031700": { "name": [ "invasive parasitic infection", "invasive parasitic infection" ], "alt_id": [], "def": "A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host.", "synonym": [], "xref": [], "is_a": [ "HP:0020108", "HP:0031690" ], "is_obsolete": "", "replace_id": "" }, "HP:0031701": { "name": [ "anterior chamber inflammatory cells", "anterior chamber inflammatory cell" ], "alt_id": [], "def": "The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye.", "synonym": [], "xref": [], "is_a": [ "HP:0000593" ], "is_obsolete": "", "replace_id": "" }, "HP:0031702": { "name": [ "anterior chamber red blood cells", "anterior chamber red blood cell" ], "alt_id": [], "def": "The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye.", "synonym": [ [ "anterior chamber rbcs", "anterior chamber rbc" ] ], "xref": [], "is_a": [ "HP:0000593" ], "is_obsolete": "", "replace_id": "" }, "HP:0031703": { "name": [ "abnormal ear morphology", "abnormal ear morphology" ], "alt_id": [], "def": "Any structural anomaly of the ear.", "synonym": [], "xref": [ "Fyler:4867" ], "is_a": [ "HP:0000598" ], "is_obsolete": "", "replace_id": "" }, "HP:0031704": { "name": [ "abnormal ear physiology", "abnormal ear physiology" ], "alt_id": [], "def": "Any functional anomaly of the ear.", "synonym": [], "xref": [], "is_a": [ "HP:0000598" ], "is_obsolete": "", "replace_id": "" }, "HP:0031705": { "name": [ "compensatory head posture", "compensatory head posture" ], "alt_id": [], "def": "A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem.", "synonym": [], "xref": [], "is_a": [ "HP:0000496" ], "is_obsolete": "", "replace_id": "" }, "HP:0031706": { "name": [ "compensatory chin depression", "compensatory chin depression" ], "alt_id": [], "def": "A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement.", "synonym": [], "xref": [], "is_a": [ "HP:0031705" ], "is_obsolete": "", "replace_id": "" }, "HP:0031707": { "name": [ "compensatory face turn to the right", "compensatory face turn to the right" ], "alt_id": [], "def": "A tendency to turn the face to the right to compensate for a limitation of eye movement.", "synonym": [], "xref": [], "is_a": [ "HP:0031705" ], "is_obsolete": "", "replace_id": "" }, "HP:0031708": { "name": [ "compensatory face turn to the left", "compensatory face turn to the left" ], "alt_id": [], "def": "A tendency to turn the face to the left to compensate for a limitation of eye movement.", "synonym": [], "xref": [], "is_a": [ "HP:0031705" ], "is_obsolete": "", "replace_id": "" }, "HP:0031709": { "name": [ "compensatory head tilt to the right shoulder", "compensatory head tilt to the right shoulder" ], "alt_id": [], "def": "A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement.", "synonym": [], "xref": [], "is_a": [ "HP:0031705" ], "is_obsolete": "", "replace_id": "" }, "HP:0031710": { "name": [ "compensatory head tilt to the left shoulder", "compensatory head tilt to the left shoulder" ], "alt_id": [], "def": "A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement.", "synonym": [], "xref": [], "is_a": [ "HP:0031705" ], "is_obsolete": "", "replace_id": "" }, "HP:0031711": { "name": [ "asymmetric abdominal aortic aneurysm", "asymmetric abdominal aortic aneurysm" ], "alt_id": [], "def": "An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).", "synonym": [], "xref": [], "is_a": [ "HP:0005112" ], "is_obsolete": "", "replace_id": "" }, "HP:0031713": { "name": [ "constant exotropia", "constant exotropia" ], "alt_id": [], "def": "A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.", "synonym": [], "xref": [], "is_a": [ "HP:0000577" ], "is_obsolete": "", "replace_id": "" }, "HP:0031714": { "name": [ "distance exotropia", "distance exotropia" ], "alt_id": [], "def": "A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent.", "synonym": [], "xref": [], "is_a": [ "HP:0000577" ], "is_obsolete": "", "replace_id": "" }, "HP:0031715": { "name": [ "near exotropia", "near exotropia" ], "alt_id": [], "def": "An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).", "synonym": [], "xref": [], "is_a": [ "HP:0000577" ], "is_obsolete": "", "replace_id": "" }, "HP:0031716": { "name": [ "cyclic exotropia", "cyclic exotropia" ], "alt_id": [], "def": "A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.", "synonym": [], "xref": [], "is_a": [ "HP:0000577" ], "is_obsolete": "", "replace_id": "" }, "HP:0031717": { "name": [ "alternating exotropia", "alternate exotropia" ], "alt_id": [], "def": "A type of exotropia in which either eye may be used for fixation.", "synonym": [ [ "alternating strabismus", "alternate strabismus" ] ], "xref": [], "is_a": [ "HP:0000577" ], "is_obsolete": "", "replace_id": "" }, "HP:0031718": { "name": [ "consecutive exotropia", "consecutive exotropia" ], "alt_id": [], "def": "Exotropia in an individual who has previously had esotropia or esophoria.", "synonym": [], "xref": [], "is_a": [ "HP:0000577" ], "is_obsolete": "", "replace_id": "" }, "HP:0031719": { "name": [ "true distance exotropia", "true distance exotropia" ], "alt_id": [], "def": "Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits.", "synonym": [], "xref": [], "is_a": [ "HP:0031714" ], "is_obsolete": "", "replace_id": "" }, "HP:0031720": { "name": [ "simulated distance exotropia", "simulated distance exotropia" ], "alt_id": [], "def": "Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation.", "synonym": [], "xref": [], "is_a": [ "HP:0031714" ], "is_obsolete": "", "replace_id": "" }, "HP:0031721": { "name": [ "sensory exotropia", "sensory exotropia" ], "alt_id": [], "def": "A type of divergent strabismus (exotropia) that develops in a poorly seeing eye.", "synonym": [ [ "secondary exotropia", "secondary exotropia" ] ], "xref": [], "is_a": [ "HP:0000577" ], "is_obsolete": "", "replace_id": "" }, "HP:0031722": { "name": [ "near esotropia", "near esotropia" ], "alt_id": [], "def": "An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved.", "synonym": [ [ "non - accomodative convergence excess esotropia", "non - accomodative convergence excess esotropia" ] ], "xref": [], "is_a": [ "HP:0031760" ], "is_obsolete": "", "replace_id": "" }, "HP:0031723": { "name": [ "secondary esotropia", "secondary esotropia" ], "alt_id": [], "def": "Convergent squint which follows loss or impairment of vision.", "synonym": [ [ "sensory esotropia", "sensory esotropia" ] ], "xref": [], "is_a": [ "HP:0000565" ], "is_obsolete": "", "replace_id": "" }, "HP:0031724": { "name": [ "microtropia", "microtropia" ], "alt_id": [], "def": "A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs.", "synonym": [], "xref": [], "is_a": [ "HP:0032012" ], "is_obsolete": "", "replace_id": "" }, "HP:0031725": { "name": [ "hypophoria", "hypophoria" ], "alt_id": [], "def": "A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.", "synonym": [], "xref": [], "is_a": [ "HP:0025588", "HP:0032011" ], "is_obsolete": "", "replace_id": "" }, "HP:0031726": { "name": [ "incyclotropia", "incyclotropia" ], "alt_id": [], "def": "A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other.", "synonym": [], "xref": [], "is_a": [ "HP:0031776" ], "is_obsolete": "", "replace_id": "" }, "HP:0031727": { "name": [ "excyclotropia", "excyclotropia" ], "alt_id": [], "def": "A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other.", "synonym": [], "xref": [], "is_a": [ "HP:0031776" ], "is_obsolete": "", "replace_id": "" }, "HP:0031728": { "name": [ "mild hypermetropia", "mild hypermetropia" ], "alt_id": [], "def": "A form of hypermetropia with not more than +2.00 diopters.", "synonym": [ [ "mild hyperopia", "mild hyperopia" ] ], "xref": [], "is_a": [ "HP:0000540" ], "is_obsolete": "", "replace_id": "" }, "HP:0031729": { "name": [ "moderate hypermetropia", "moderate hypermetropia" ], "alt_id": [], "def": "A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters.", "synonym": [ [ "moderate hyperopia", "moderate hyperopia" ] ], "xref": [], "is_a": [ "HP:0000540" ], "is_obsolete": "", "replace_id": "" }, "HP:0031730": { "name": [ "axial myopia", "axial myopia" ], "alt_id": [], "def": "A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye.", "synonym": [], "xref": [], "is_a": [ "HP:0000545" ], "is_obsolete": "", "replace_id": "" }, "HP:0031731": { "name": [ "increased tear production", "increase tear production" ], "alt_id": [], "def": "Increased lacrimation owing to overproduction of tears.", "synonym": [], "xref": [], "is_a": [ "HP:0009926" ], "is_obsolete": "", "replace_id": "" }, "HP:0031732": { "name": [ "increased basal tear production", "increase basal tear production" ], "alt_id": [], "def": "A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance.", "synonym": [], "xref": [], "is_a": [ "HP:0031731" ], "is_obsolete": "", "replace_id": "" }, "HP:0031733": { "name": [ "reflex tearing", "reflex tear" ], "alt_id": [], "def": "A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease).", "synonym": [], "xref": [], "is_a": [ "HP:0031731" ], "is_obsolete": "", "replace_id": "" }, "HP:0031734": { "name": [ "lacrimal pump failure", "lacrimal pump failure" ], "alt_id": [], "def": "A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion.", "synonym": [], "xref": [], "is_a": [ "HP:0009926" ], "is_obsolete": "", "replace_id": "" }, "HP:0031736": { "name": [ "involutional entropion", "involutional entropion" ], "alt_id": [], "def": "An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle.", "synonym": [], "xref": [], "is_a": [ "HP:0000621" ], "is_obsolete": "", "replace_id": "" }, "HP:0031737": { "name": [ "cicatricial entropion", "cicatricial entropion" ], "alt_id": [], "def": "Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid.", "synonym": [], "xref": [], "is_a": [ "HP:0000621" ], "is_obsolete": "", "replace_id": "" }, "HP:0031738": { "name": [ "mechanical entropion", "mechanical entropion" ], "alt_id": [], "def": "A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe.", "synonym": [], "xref": [], "is_a": [ "HP:0000621" ], "is_obsolete": "", "replace_id": "" }, "HP:0031739": { "name": [ "abnormal oblique muscle physiology", "abnormal oblique muscle physiology" ], "alt_id": [], "def": "A functional anomaly of the inferior or superior oblique muscle.", "synonym": [], "xref": [], "is_a": [ "HP:0025590" ], "is_obsolete": "", "replace_id": "" }, "HP:0031740": { "name": [ "abnormal horizontal rectus muscle physiology", "abnormal horizontal rectus muscle physiology" ], "alt_id": [], "def": "A functional anomaly of the medial rectus muscle or lateral rectus muscle.", "synonym": [], "xref": [], "is_a": [ "HP:0031755" ], "is_obsolete": "", "replace_id": "" }, "HP:0031741": { "name": [ "inferior oblique muscle underaction", "inferior oblique muscle underaction" ], "alt_id": [], "def": "Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.", "synonym": [], "xref": [], "is_a": [ "HP:0025598" ], "is_obsolete": "", "replace_id": "" }, "HP:0031742": { "name": [ "inferior rectus muscle underaction", "inferior rectus muscle underaction" ], "alt_id": [], "def": "Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.", "synonym": [], "xref": [], "is_a": [ "HP:0025601" ], "is_obsolete": "", "replace_id": "" }, "HP:0031743": { "name": [ "inferior rectus muscle overaction", "inferior rectus muscle overaction" ], "alt_id": [], "def": "Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.", "synonym": [], "xref": [], "is_a": [ "HP:0025600" ], "is_obsolete": "", "replace_id": "" }, "HP:0031744": { "name": [ "superior rectus muscle weakness", "superior rectus muscle weakness" ], "alt_id": [], "def": "Decreased strength of the superior rectus muscle.", "synonym": [], "xref": [], "is_a": [ "HP:0025603" ], "is_obsolete": "", "replace_id": "" }, "HP:0031745": { "name": [ "superior rectus muscle overaction", "superior rectus muscle overaction" ], "alt_id": [], "def": "Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.", "synonym": [], "xref": [], "is_a": [ "HP:0025603" ], "is_obsolete": "", "replace_id": "" }, "HP:0031746": { "name": [ "superior rectus muscle restriction", "superior rectus muscle restriction" ], "alt_id": [], "def": "Mechanical limitation of the range of movement of the superior rectus muscle.", "synonym": [], "xref": [], "is_a": [ "HP:0031744" ], "is_obsolete": "", "replace_id": "" }, "HP:0031747": { "name": [ "superior rectus muscle underaction", "superior rectus muscle underaction" ], "alt_id": [], "def": "Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.", "synonym": [], "xref": [], "is_a": [ "HP:0031744" ], "is_obsolete": "", "replace_id": "" }, "HP:0031748": { "name": [ "abnormal vertical rectus muscle physiology", "abnormal vertical rectus muscle physiology" ], "alt_id": [], "def": "A functional anomaly of the superior or inferior rectus muscle.", "synonym": [], "xref": [], "is_a": [ "HP:0031755" ], "is_obsolete": "", "replace_id": "" }, "HP:0031749": { "name": [ "abnormal lateral rectus muscle physiology", "abnormal lateral rectus muscle physiology" ], "alt_id": [], "def": "A functional anomaly of the lateral rectus muscle.", "synonym": [], "xref": [], "is_a": [ "HP:0031740" ], "is_obsolete": "", "replace_id": "" }, "HP:0031750": { "name": [ "lateral rectus muscle weakness", "lateral rectus muscle weakness" ], "alt_id": [], "def": "Decreased strength (ability to move) of the lateral rectus muscle.", "synonym": [], "xref": [], "is_a": [ "HP:0031749" ], "is_obsolete": "", "replace_id": "" }, "HP:0031751": { "name": [ "lateral rectus muscle underaction", "lateral rectus muscle underaction" ], "alt_id": [], "def": "Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.", "synonym": [], "xref": [], "is_a": [ "HP:0031750" ], "is_obsolete": "", "replace_id": "" }, "HP:0031752": { "name": [ "lateral rectus muscle overaction", "lateral rectus muscle overaction" ], "alt_id": [], "def": "Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.", "synonym": [], "xref": [], "is_a": [ "HP:0031749" ], "is_obsolete": "", "replace_id": "" }, "HP:0031753": { "name": [ "medial rectus muscle weakness", "medial rectus muscle weakness" ], "alt_id": [], "def": "Decreased strength of the medial rectus muscle.", "synonym": [], "xref": [], "is_a": [ "HP:0025606" ], "is_obsolete": "", "replace_id": "" }, "HP:0031754": { "name": [ "medial rectus muscle overaction", "medial rectus muscle overaction" ], "alt_id": [], "def": "Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.", "synonym": [], "xref": [], "is_a": [ "HP:0025606" ], "is_obsolete": "", "replace_id": "" }, "HP:0031755": { "name": [ "abnormal rectus muscle physiology", "abnormal rectus muscle physiology" ], "alt_id": [], "def": "A functional anomaly of a vertical or horizontal rectus muscle.", "synonym": [], "xref": [], "is_a": [ "HP:0025590" ], "is_obsolete": "", "replace_id": "" }, "HP:0031756": { "name": [ "medial rectus muscle underaction", "medial rectus muscle underaction" ], "alt_id": [], "def": "Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.", "synonym": [], "xref": [], "is_a": [ "HP:0031753" ], "is_obsolete": "", "replace_id": "" }, "HP:0031757": { "name": [ "medial rectus muscle restriction", "medial rectus muscle restriction" ], "alt_id": [], "def": "Mechanical limitation of the range of movement of the medial rectus muscle.", "synonym": [], "xref": [], "is_a": [ "HP:0031753" ], "is_obsolete": "", "replace_id": "" }, "HP:0031758": { "name": [ "lateral rectus muscle restriction", "lateral rectus muscle restriction" ], "alt_id": [], "def": "Mechanical limitation of the range of movement of the lateral rectus muscle.", "synonym": [], "xref": [], "is_a": [ "HP:0031750" ], "is_obsolete": "", "replace_id": "" }, "HP:0031759": { "name": [ "basic constant esotropia", "basic constant esotropia" ], "alt_id": [], "def": "A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times).", "synonym": [ [ "basic ( constant ) esotropia", "basic ( constant ) esotropia" ] ], "xref": [], "is_a": [ "HP:0031760" ], "is_obsolete": "", "replace_id": "" }, "HP:0031760": { "name": [ "non - accomodative esotropia", "non - accomodative esotropia" ], "alt_id": [], "def": "A form of esotropia in which the angle of deviation is not affected by accommodative effort.", "synonym": [], "xref": [], "is_a": [ "HP:0000565" ], "is_obsolete": "", "replace_id": "" }, "HP:0031761": { "name": [ "infantile constant esotropia", "infantile constant esotropia" ], "alt_id": [], "def": "Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction.", "synonym": [ [ "infantile ( constant ) esotropia", "infantile ( constant ) esotropia" ] ], "xref": [], "is_a": [ "HP:0031760" ], "is_obsolete": "", "replace_id": "" }, "HP:0031762": { "name": [ "distance esotropia", "distance esotropia" ], "alt_id": [], "def": "An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging.", "synonym": [ [ "divergence insufficiency", "divergence insufficiency" ] ], "xref": [], "is_a": [ "HP:0031760" ], "is_obsolete": "", "replace_id": "" }, "HP:0031763": { "name": [ "cyclic esotropia", "cyclic esotropia" ], "alt_id": [], "def": "Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.", "synonym": [], "xref": [], "is_a": [ "HP:0031760" ], "is_obsolete": "", "replace_id": "" }, "HP:0031764": { "name": [ "fully accomodative esotropia", "fully accomodative esotropia" ], "alt_id": [], "def": "Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction.", "synonym": [], "xref": [], "is_a": [ "HP:0020046" ], "is_obsolete": "", "replace_id": "" }, "HP:0031765": { "name": [ "partially accomodative esotropia", "partially accomodative esotropia" ], "alt_id": [], "def": "A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses.", "synonym": [ [ "constant esotropia with an accommodative component", "constant esotropia with an accommodative component" ], [ "constant esotropia with an accommodative element", "constant esotropia with an accommodative element" ] ], "xref": [], "is_a": [ "HP:0020046" ], "is_obsolete": "", "replace_id": "" }, "HP:0031766": { "name": [ "convergence excess esotropia", "convergence excess esotropia" ], "alt_id": [], "def": "An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio.", "synonym": [], "xref": [], "is_a": [ "HP:0020046" ], "is_obsolete": "", "replace_id": "" }, "HP:0031767": { "name": [ "consecutive esotropia", "consecutive esotropia" ], "alt_id": [], "def": "Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection.", "synonym": [], "xref": [], "is_a": [ "HP:0000565" ], "is_obsolete": "", "replace_id": "" }, "HP:0031768": { "name": [ "parafoveal fixation", "parafoveal fixation" ], "alt_id": [], "def": "Fixation of an object in the area adjacent to the fovea.", "synonym": [], "xref": [], "is_a": [ "HP:0025549" ], "is_obsolete": "", "replace_id": "" }, "HP:0031769": { "name": [ "peripheral fixation", "peripheral fixation" ], "alt_id": [], "def": "Fixation of an object in a peripheral area of the retina.", "synonym": [], "xref": [], "is_a": [ "HP:0025549" ], "is_obsolete": "", "replace_id": "" }, "HP:0031770": { "name": [ "epicanthus palpebralis", "epicanthus palpebralis" ], "alt_id": [], "def": "A type of epicanthus in which a medial vertical fold is present between upper and lower lids.", "synonym": [], "xref": [], "is_a": [ "HP:0000286" ], "is_obsolete": "", "replace_id": "" }, "HP:0031771": { "name": [ "epicanthus tarsalis", "epicanthus tarsalis" ], "alt_id": [], "def": "A type of epicanthus in which a primarily upper lid fold is present.", "synonym": [], "xref": [], "is_a": [ "HP:0000286" ], "is_obsolete": "", "replace_id": "" }, "HP:0031772": { "name": [ "abnormal posterior circulating artery morphology", "abnormal posterior circulate artery morphology" ], "alt_id": [], "def": "Any structural anomaly of the posterior circulating artery (PCOM).", "synonym": [], "xref": [], "is_a": [ "HP:0012518" ], "is_obsolete": "", "replace_id": "" }, "HP:0031773": { "name": [ "posterior communicating artery aneurysm", "posterior communicate artery aneurysm" ], "alt_id": [], "def": "A widening (ballooning) localized in the wall of the posterior communicating artery.", "synonym": [], "xref": [], "is_a": [ "HP:0031772" ], "is_obsolete": "", "replace_id": "" }, "HP:0031774": { "name": [ "posterior communicating artery infundibulum", "posterior communicate artery infundibulum" ], "alt_id": [], "def": "A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery.", "synonym": [], "xref": [], "is_a": [ "HP:0031772" ], "is_obsolete": "", "replace_id": "" }, "HP:0031775": { "name": [ "neurogenic strabismus", "neurogenic strabismus" ], "alt_id": [], "def": "An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them.", "synonym": [ [ "paralytic strabismus", "paralytic strabismus" ] ], "xref": [], "is_a": [ "HP:0000486" ], "is_obsolete": "", "replace_id": "" }, "HP:0031776": { "name": [ "cyclotropia", "cyclotropia" ], "alt_id": [], "def": "A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia).", "synonym": [], "xref": [], "is_a": [ "HP:0025589", "HP:0032012" ], "is_obsolete": "", "replace_id": "" }, "HP:0031777": { "name": [ "cyclophoria", "cyclophoria" ], "alt_id": [], "def": "A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation.", "synonym": [], "xref": [], "is_a": [ "HP:0025589", "HP:0032011" ], "is_obsolete": "", "replace_id": "" }, "HP:0031778": { "name": [ "incyclophoria", "incyclophoria" ], "alt_id": [], "def": "A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other.", "synonym": [], "xref": [], "is_a": [ "HP:0031777" ], "is_obsolete": "", "replace_id": "" }, "HP:0031779": { "name": [ "excyclophoria", "excyclophoria" ], "alt_id": [], "def": "A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other.", "synonym": [], "xref": [], "is_a": [ "HP:0031777" ], "is_obsolete": "", "replace_id": "" }, "HP:0031780": { "name": [ "eosinophilic ascites", "eosinophilic ascites" ], "alt_id": [], "def": "A type of ascites in which there are large numbers of eosinophils in the ascitis fluid.", "synonym": [], "xref": [], "is_a": [ "HP:0001541", "HP:0032064" ], "is_obsolete": "", "replace_id": "" }, "HP:0031781": { "name": [ "microtropia with identity", "microtropia with identity" ], "alt_id": [], "def": "A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC.", "synonym": [], "xref": [], "is_a": [ "HP:0031724" ], "is_obsolete": "", "replace_id": "" }, "HP:0031782": { "name": [ "microtropia without identity", "microtropia without identity" ], "alt_id": [], "def": "A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test.", "synonym": [], "xref": [], "is_a": [ "HP:0031724" ], "is_obsolete": "", "replace_id": "" }, "HP:0031783": { "name": [ "absent coronary sinus", "absent coronary sinus" ], "alt_id": [], "def": "A developmental defect in which the coronary sinus fails to form.", "synonym": [], "xref": [ "Fyler:2841" ], "is_a": [ "HP:0011642" ], "is_obsolete": "", "replace_id": "" }, "HP:0031784": { "name": [ "abnormal ascending aorta morphology", "abnormal ascend aorta morphology" ], "alt_id": [], "def": "Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.", "synonym": [], "xref": [ "Fyler:1431" ], "is_a": [ "HP:0001679" ], "is_obsolete": "", "replace_id": "" }, "HP:0031785": { "name": [ "abnormal eyelid movement", "abnormal eyelid movement" ], "alt_id": [], "def": "An abnormality in voluntary or involuntary eyelid movements or their control.", "synonym": [], "xref": [], "is_a": [ "HP:0031879" ], "is_obsolete": "", "replace_id": "" }, "HP:0031786": { "name": [ "cogan lid twitch", "cogan lid twitch" ], "alt_id": [], "def": "Transient eyelid retraction during refixation from down to straight ahead.", "synonym": [ [ "cogan eyelid twitch", "cogan eyelid twitch" ], [ "eyelid twitch", "eyelid twitch" ], [ "lid twitch", "lid twitch" ] ], "xref": [], "is_a": [ "HP:0031785" ], "is_obsolete": "", "replace_id": "" }, "HP:0031787": { "name": [ "oblique astigmatism", "oblique astigmatism" ], "alt_id": [], "def": "Astigmatism in which the refractive power of the vertical meridian is the greatest.", "synonym": [], "xref": [], "is_a": [ "HP:0000483" ], "is_obsolete": "", "replace_id": "" }, "HP:0031788": { "name": [ "with the rule astigmatism", "with the rule astigmatism" ], "alt_id": [], "def": "Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest).", "synonym": [], "xref": [], "is_a": [ "HP:0000483" ], "is_obsolete": "", "replace_id": "" }, "HP:0031789": { "name": [ "against the rule astigmatism", "against the rule astigmatism" ], "alt_id": [], "def": "Astigmatism with more plus power on the horizontal meridian.", "synonym": [], "xref": [], "is_a": [ "HP:0000483" ], "is_obsolete": "", "replace_id": "" }, "HP:0031790": { "name": [ "mixed astigmatism", "mixed astigmatism" ], "alt_id": [], "def": "A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted).", "synonym": [], "xref": [], "is_a": [ "HP:0000483" ], "is_obsolete": "", "replace_id": "" }, "HP:0031791": { "name": [ "lenticular astigmatism", "lenticular astigmatism" ], "alt_id": [], "def": "A type of astigmatism related to an irregular shape of the lens.", "synonym": [], "xref": [], "is_a": [ "HP:0000483" ], "is_obsolete": "", "replace_id": "" }, "HP:0031792": { "name": [ "irregular astigmatism", "irregular astigmatism" ], "alt_id": [], "def": "A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision.", "synonym": [], "xref": [], "is_a": [ "HP:0000483" ], "is_obsolete": "", "replace_id": "" }, "HP:0031793": { "name": [ "increased serum leptin", "increase serum leptin" ], "alt_id": [], "def": "An increased concentration of leptin in the blood.", "synonym": [ [ "elevated circulating leptin level", "elevate circulate leptin level" ] ], "xref": [], "is_a": [ "HP:0004361" ], "is_obsolete": "", "replace_id": "" }, "HP:0031794": { "name": [ "decreased circulating glycerol level", "decrease circulate glycerol level" ], "alt_id": [], "def": "A decrease below the normal concentration of glycerol in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0031795" ], "is_obsolete": "", "replace_id": "" }, "HP:0031795": { "name": [ "abnormal circulating glycerol level", "abnormal circulate glycerol level" ], "alt_id": [], "def": "Any deviation from the normal concentration of glycerol in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0011013" ], "is_obsolete": "", "replace_id": "" }, "HP:0031796": { "name": [ "recurrent", "recurrent" ], "alt_id": [], "def": "Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present.", "synonym": [ [ "intermittent", "intermittent" ] ], "xref": [], "is_a": [ "HP:0011008" ], "is_obsolete": "", "replace_id": "" }, "HP:0031797": { "name": [ "clinical course", "clinical course" ], "alt_id": [], "def": "The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.", "synonym": [ [ "natural history of disease", "natural history of disease" ] ], "xref": [], "is_a": [ "HP:0012823" ], "is_obsolete": "", "replace_id": "" }, "HP:0031798": { "name": [ "elevated circulating apolipoprotein b concentration", "elevate circulate apolipoprotein b concentration" ], "alt_id": [], "def": "Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.", "synonym": [ [ "elevated apob level", "elevate apob level" ], [ "elevated apolipoprotein b level", "elevate apolipoprotein b level" ] ], "xref": [], "is_a": [ "HP:0033460" ], "is_obsolete": "", "replace_id": "" }, "HP:0031799": { "name": [ "decreased circulating apolipoprotein ai concentration", "decrease circulate apolipoprotein ai concentration" ], "alt_id": [], "def": "Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease.", "synonym": [ [ "decreased apo - ai level", "decrease apo - ai level" ], [ "decreased apoa - i level", "decrease apoa - i level" ], [ "decreased apolipoprotein ai level", "decrease apolipoprotein ai level" ] ], "xref": [], "is_a": [ "HP:0033459" ], "is_obsolete": "", "replace_id": "" }, "HP:0031800": { "name": [ "elevated circulating apolipoprotein a - ii concentration", "elevate circulate apolipoprotein a - ii concentration" ], "alt_id": [], "def": "An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism.", "synonym": [ [ "elevated apo - aii level", "elevate apo - aii level" ], [ "elevated apoa - ii level", "elevate apoa - ii level" ], [ "elevated apoaii level", "elevate apoaii level" ], [ "elevated apolipoprotein a - ii level", "elevate apolipoprotein a - ii level" ] ], "xref": [], "is_a": [ "HP:0033460" ], "is_obsolete": "", "replace_id": "" }, "HP:0031801": { "name": [ "vocal cord dysfunction", "vocal cord dysfunction" ], "alt_id": [], "def": "Any functional anomaly of the vocal cord.", "synonym": [], "xref": [], "is_a": [ "HP:0001608" ], "is_obsolete": "", "replace_id": "" }, "HP:0031803": { "name": [ "fundus hemorrhage", "fundus hemorrhage" ], "alt_id": [], "def": "Bleeding within the fundus of the eye.", "synonym": [ [ "fundus haemorrhage", "fundus haemorrhage" ] ], "xref": [], "is_a": [ "HP:0001098" ], "is_obsolete": "", "replace_id": "" }, "HP:0031804": { "name": [ "premacular hemorrhage", "premacular hemorrhage" ], "alt_id": [], "def": "", "synonym": [ [ "premacular haemorrhage", "premacular haemorrhage" ] ], "xref": [], "is_a": [ "HP:0025240" ], "is_obsolete": "", "replace_id": "" }, "HP:0031805": { "name": [ "intraretinal hemorrhage", "intraretinal hemorrhage" ], "alt_id": [], "def": "A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina.", "synonym": [ [ "intraretinal haemorrhage", "intraretinal haemorrhage" ] ], "xref": [], "is_a": [ "HP:0000573" ], "is_obsolete": "", "replace_id": "" }, "HP:0031806": { "name": [ "abnormal basophil count", "abnormal basophil count" ], "alt_id": [], "def": "Any deviation from the normal number of basophils per volume in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0001912", "HP:0032309" ], "is_obsolete": "", "replace_id": "" }, "HP:0031807": { "name": [ "increased basophil count", "increase basophil count" ], "alt_id": [], "def": "An abnormally increased count of basophils per volume in the blood circulation.", "synonym": [ [ "basophilia", "basophilia" ] ], "xref": [], "is_a": [ "HP:0031806" ], "is_obsolete": "", "replace_id": "" }, "HP:0031808": { "name": [ "decreased basophil count", "decrease basophil count" ], "alt_id": [], "def": "An abnormally reduced count of basophils per volume in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0031806" ], "is_obsolete": "", "replace_id": "" }, "HP:0031809": { "name": [ "archibald 's sign", "archibald 's sign" ], "alt_id": [], "def": "Shortening of the fourth and fifth metacarpals when the fist is clenched.", "synonym": [ [ "archibald 's metacarpal sign", "archibald 's metacarpal sign" ], [ "knuckle dimple", "knuckle dimple" ] ], "xref": [], "is_a": [ "HP:0005916" ], "is_obsolete": "", "replace_id": "" }, "HP:0031810": { "name": [ "anti - ganglioside antibody positivity", "anti - ganglioside antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0031811": { "name": [ "bilirubinuria", "bilirubinuria" ], "alt_id": [], "def": "Presence of conjugated bilirubin in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0031812": { "name": [ "nitrituria", "nitrituria" ], "alt_id": [], "def": "Presence of nitrites in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0031813": { "name": [ "colonic eosinophilia", "colonic eosinophilia" ], "alt_id": [], "def": "An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon.", "synonym": [ [ "eosinophilic colitis", "eosinophilic colitis" ], [ "eosinophilic infiltration in the colon", "eosinophilic infiltration in the colon" ] ], "xref": [], "is_a": [ "HP:0002037", "HP:0032064" ], "is_obsolete": "", "replace_id": "" }, "HP:0031814": { "name": [ "palilalia", "palilalia" ], "alt_id": [], "def": "Repetition of one's own words or phrases.", "synonym": [], "xref": [], "is_a": [ "HP:0002167" ], "is_obsolete": "", "replace_id": "" }, "HP:0031815": { "name": [ "abnormal oral physiology", "abnormal oral physiology" ], "alt_id": [], "def": "A functional anomaly of the mouth (which is also known as the oral cavity).", "synonym": [], "xref": [], "is_a": [ "HP:0000153" ], "is_obsolete": "", "replace_id": "" }, "HP:0031816": { "name": [ "abnormal oral morphology", "abnormal oral morphology" ], "alt_id": [], "def": "Any structural anomaly of the mouth, which is also known as the oral cavity.", "synonym": [], "xref": [], "is_a": [ "HP:0000153" ], "is_obsolete": "", "replace_id": "" }, "HP:0031817": { "name": [ "decreased circulating parathyroid hormone level", "decrease circulate parathyroid hormone level" ], "alt_id": [], "def": "An abnormally decreased concentration of parathyroid hormone.", "synonym": [ [ "decreased circulating pth level", "decrease circulate pth level" ], [ "decreased serum parathyroid hormone", "decrease serum parathyroid hormone" ], [ "decreased serum parathyroid hormone level", "decrease serum parathyroid hormone level" ], [ "decreased serum pth", "decrease serum pth" ] ], "xref": [], "is_a": [ "HP:0100530" ], "is_obsolete": "", "replace_id": "" }, "HP:0031818": { "name": [ "abnormal waist to hip ratio", "abnormal waist to hip ratio" ], "alt_id": [], "def": "A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement.", "synonym": [], "xref": [], "is_a": [ "HP:0004323" ], "is_obsolete": "", "replace_id": "" }, "HP:0031819": { "name": [ "increased waist to hip ratio", "increase waist to hip ratio" ], "alt_id": [], "def": "Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.", "synonym": [ [ "increased waist - hip ratio", "increase waist - hip ratio" ], [ "increased waist - to - hip ratio", "increase waist - to - hip ratio" ], [ "increased whr", "increase whr" ] ], "xref": [], "is_a": [ "HP:0031818" ], "is_obsolete": "", "replace_id": "" }, "HP:0031820": { "name": [ "decreased waist to hip ratio", "decrease waist to hip ratio" ], "alt_id": [], "def": "Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.", "synonym": [ [ "decreased waist - hip ratio", "decrease waist - hip ratio" ], [ "decreased waist - to - hip ratio", "decrease waist - to - hip ratio" ], [ "decreased whr", "decrease whr" ] ], "xref": [], "is_a": [ "HP:0031818" ], "is_obsolete": "", "replace_id": "" }, "HP:0031821": { "name": [ "abnormal hypoxanthine - guanine phosphoribosyltransferase level", "abnormal hypoxanthine - guanine phosphoribosyltransferase level" ], "alt_id": [], "def": "Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.", "synonym": [ [ "abnormal 6 - hydroxypurine phosphoribosyltransferase level", "abnormal 6 - hydroxypurine phosphoribosyltransferase level" ], [ "abnormal gmp pyrophosphorylase level", "abnormal gmp pyrophosphorylase level" ], [ "abnormal gprt level", "abnormal gprt level" ] ], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0031822": { "name": [ "elevated hypoxanthine - guanine phosphoribosyltransferase level", "elevate hypoxanthine - guanine phosphoribosyltransferase level" ], "alt_id": [], "def": "Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.", "synonym": [ [ "elevated 6 - hydroxypurine phosphoribosyltransferase level", "elevate 6 - hydroxypurine phosphoribosyltransferase level" ], [ "elevated 6 - mercaptopurine phosphoribosyltransferase level", "elevate 6 - mercaptopurine phosphoribosyltransferase level" ], [ "elevated gmp pyrophosphorylase level", "elevate gmp pyrophosphorylase level" ] ], "xref": [], "is_a": [ "HP:0031821" ], "is_obsolete": "", "replace_id": "" }, "HP:0031823": { "name": [ "reduced hypoxanthine - guanine phosphoribosyltransferase level", "reduce hypoxanthine - guanine phosphoribosyltransferase level" ], "alt_id": [], "def": "Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.", "synonym": [ [ "reduced 6 - hydroxypurine phosphoribosyltransferase level", "reduce 6 - hydroxypurine phosphoribosyltransferase level" ], [ "reduced 6 - mercaptopurine phosphoribosyltransferase level", "reduce 6 - mercaptopurine phosphoribosyltransferase level" ], [ "reduced gmp pyrophosphorylase level", "reduce gmp pyrophosphorylase level" ] ], "xref": [], "is_a": [ "HP:0031821" ], "is_obsolete": "", "replace_id": "" }, "HP:0031824": { "name": [ "hepatic mastocytosis", "hepatic mastocytosis" ], "alt_id": [], "def": "Liver mast cell infiltration.", "synonym": [], "xref": [], "is_a": [ "HP:0100495" ], "is_obsolete": "", "replace_id": "" }, "HP:0031825": { "name": [ "freezing of gait", "freezing of gait" ], "alt_id": [], "def": "Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.", "synonym": [ [ "freezing gait", "freeze gait" ] ], "xref": [], "is_a": [ "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0031826": { "name": [ "abnormal reflex", "abnormal reflex" ], "alt_id": [], "def": "Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur).", "synonym": [], "xref": [], "is_a": [ "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0031827": { "name": [ "absent abdominal reflex", "absent abdominal reflex" ], "alt_id": [], "def": "Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus.", "synonym": [ [ "abdominal reflex absent", "abdominal reflex absent" ] ], "xref": [], "is_a": [ "HP:0031828" ], "is_obsolete": "", "replace_id": "" }, "HP:0031828": { "name": [ "abnormal superficial reflex", "abnormal superficial reflex" ], "alt_id": [], "def": "An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.", "synonym": [], "xref": [], "is_a": [ "HP:0031826" ], "is_obsolete": "", "replace_id": "" }, "HP:0031829": { "name": [ "absent cremaster reflex", "absent cremaster reflex" ], "alt_id": [], "def": "Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.", "synonym": [ [ "absent cremasteric reflex", "absent cremasteric reflex" ] ], "xref": [], "is_a": [ "HP:0031828" ], "is_obsolete": "", "replace_id": "" }, "HP:0031830": { "name": [ "pinguecula", "pinguecula" ], "alt_id": [], "def": "A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea.", "synonym": [], "xref": [], "is_a": [ "HP:0000502" ], "is_obsolete": "", "replace_id": "" }, "HP:0031831": { "name": [ "decreased serum zinc", "decrease serum zinc" ], "alt_id": [], "def": "A reduced concentration of zinc in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0008277" ], "is_obsolete": "", "replace_id": "" }, "HP:0031832": { "name": [ "hypermetric downward saccades", "hypermetric downward saccade" ], "alt_id": [], "def": "Overshoot of downward saccadic eye movements.", "synonym": [], "xref": [], "is_a": [ "HP:0007338" ], "is_obsolete": "", "replace_id": "" }, "HP:0031833": { "name": [ "hypometric upward saccades", "hypometric upward saccade" ], "alt_id": [], "def": "Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.", "synonym": [], "xref": [], "is_a": [ "HP:0000571" ], "is_obsolete": "", "replace_id": "" }, "HP:0031834": { "name": [ "aortopulmonary collateral arteries", "aortopulmonary collateral artery" ], "alt_id": [], "def": "Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.", "synonym": [], "xref": [], "is_a": [ "HP:0001679" ], "is_obsolete": "", "replace_id": "" }, "HP:0031835": { "name": [ "abnormal superoxide dismutase level", "abnormal superoxide dismutase level" ], "alt_id": [], "def": "An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.", "synonym": [ [ "abnormal superoxide : superoxide oxidoreductase activity", "abnormal superoxide : superoxide oxidoreductase activity" ] ], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0031836": { "name": [ "increased superoxide dismutase level", "increase superoxide dismutase level" ], "alt_id": [], "def": "Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.", "synonym": [ [ "increased superoxide : superoxide oxidoreductase activity", "increase superoxide : superoxide oxidoreductase activity" ] ], "xref": [], "is_a": [ "HP:0031835" ], "is_obsolete": "", "replace_id": "" }, "HP:0031837": { "name": [ "decreased superoxide dismutase level", "decrease superoxide dismutase level" ], "alt_id": [], "def": "Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.", "synonym": [ [ "decreased superoxide : superoxide oxidoreductase activity", "decrease superoxide : superoxide oxidoreductase activity" ] ], "xref": [], "is_a": [ "HP:0031835" ], "is_obsolete": "", "replace_id": "" }, "HP:0031838": { "name": [ "presence of xenobiotic", "presence of xenobiotic" ], "alt_id": [], "def": "Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids.", "synonym": [], "xref": [], "is_a": [ "HP:0001939" ], "is_obsolete": "", "replace_id": "" }, "HP:0031840": { "name": [ "urine xenobiotic", "urine xenobiotic" ], "alt_id": [], "def": "The presence of a xenobiotic in urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031838" ], "is_obsolete": "", "replace_id": "" }, "HP:0031841": { "name": [ "positive urine methadone test", "positive urine methadone test" ], "alt_id": [], "def": "Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031840" ], "is_obsolete": "", "replace_id": "" }, "HP:0031842": { "name": [ "lymphangiectasis", "lymphangiectasis" ], "alt_id": [], "def": "Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma.", "synonym": [ [ "lymphangiectasia", "lymphangiectasia" ] ], "xref": [], "is_a": [ "HP:0100766" ], "is_obsolete": "", "replace_id": "" }, "HP:0031843": { "name": [ "bradyphrenia", "bradyphrenia" ], "alt_id": [], "def": "Abnormal slowness of thought processes.", "synonym": [ [ "mental slowness", "mental slowness" ], [ "slowed thinking", "slow thinking" ], [ "slowed thoughts", "slow thought" ], [ "slowness of thought", "slowness of thought" ] ], "xref": [], "is_a": [ "HP:0100543" ], "is_obsolete": "", "replace_id": "" }, "HP:0031844": { "name": [ "euphoria", "euphoria" ], "alt_id": [], "def": "A sense of intense joy or happiness that is beyond what would be expected under the given circumstances.", "synonym": [], "xref": [], "is_a": [ "HP:0100851" ], "is_obsolete": "", "replace_id": "" }, "HP:0031845": { "name": [ "abnormal libido", "abnormal libido" ], "alt_id": [], "def": "Any deviation from the normal sexual drive or desire for sexual activity.", "synonym": [], "xref": [], "is_a": [ "HP:0000080" ], "is_obsolete": "", "replace_id": "" }, "HP:0031846": { "name": [ "femur fracture", "femur fracture" ], "alt_id": [], "def": "A break or crush injury of the thigh bone (femur).", "synonym": [ [ "femoral fracture", "femoral fracture" ] ], "xref": [ "MSH:D005264" ], "is_a": [ "HP:0002823" ], "is_obsolete": "", "replace_id": "" }, "HP:0031847": { "name": [ "difficulty walking backward", "difficulty walk backward" ], "alt_id": [], "def": "Reduced ability to walk (ambulate) in a backwards direction.", "synonym": [], "xref": [], "is_a": [ "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0031848": { "name": [ "cock - walk gait", "cock - walk gait" ], "alt_id": [], "def": "An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor.", "synonym": [], "xref": [], "is_a": [ "HP:0031954" ], "is_obsolete": "", "replace_id": "" }, "HP:0031849": { "name": [ "sleep - wake inversion", "sleep - wake inversion" ], "alt_id": [], "def": "A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night.", "synonym": [], "xref": [], "is_a": [ "HP:0006979" ], "is_obsolete": "", "replace_id": "" }, "HP:0031850": { "name": [ "abnormal hematocrit", "abnormal hematocrit" ], "alt_id": [], "def": "Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood.", "synonym": [ [ "abnormal hct", "abnormal hct" ] ], "xref": [], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0031851": { "name": [ "reduced hematocrit", "reduce hematocrit" ], "alt_id": [], "def": "A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.", "synonym": [ [ "low hematocrit", "low hematocrit" ], [ "reduced hct", "reduce hct" ] ], "xref": [], "is_a": [ "HP:0031850" ], "is_obsolete": "", "replace_id": "" }, "HP:0031853": { "name": [ "isomerism", "isomerism" ], "alt_id": [], "def": "Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.", "synonym": [], "xref": [], "is_a": [ "HP:0030853" ], "is_obsolete": "", "replace_id": "" }, "HP:0031854": { "name": [ "left isomerism", "leave isomerism" ], "alt_id": [], "def": "A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures.", "synonym": [ [ "left - sided isomerism", "left - side isomerism" ] ], "xref": [], "is_a": [ "HP:0031853" ], "is_obsolete": "", "replace_id": "" }, "HP:0031855": { "name": [ "right isomerism", "right isomerism" ], "alt_id": [], "def": "A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures.", "synonym": [ [ "right - sided isomerism", "right - side isomerism" ] ], "xref": [], "is_a": [ "HP:0031853" ], "is_obsolete": "", "replace_id": "" }, "HP:0031856": { "name": [ "hobby horse gait", "hobby horse gait" ], "alt_id": [], "def": "An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward.", "synonym": [], "xref": [], "is_a": [ "HP:0031954" ], "is_obsolete": "", "replace_id": "" }, "HP:0031857": { "name": [ "ineffective esophageal peristalsis", "ineffective esophageal peristalsis" ], "alt_id": [], "def": "Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.", "synonym": [ [ "ineffective esophageal motility", "ineffective esophageal motility" ] ], "xref": [], "is_a": [ "HP:0025270", "HP:0100771" ], "is_obsolete": "", "replace_id": "" }, "HP:0031858": { "name": [ "esophageal furrows", "esophageal furrow" ], "alt_id": [], "def": "Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).", "synonym": [], "xref": [], "is_a": [ "HP:0002031" ], "is_obsolete": "", "replace_id": "" }, "HP:0031860": { "name": [ "abnormal heart rate variability", "abnormal heart rate variability" ], "alt_id": [], "def": "Any abnormality in the variability of the time interval between successive heartbeats.", "synonym": [], "xref": [], "is_a": [ "HP:0011675" ], "is_obsolete": "", "replace_id": "" }, "HP:0031861": { "name": [ "decreased heart rate variability", "decreased heart rate variability" ], "alt_id": [], "def": "Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.", "synonym": [ [ "reduced heart rate variability", "reduce heart rate variability" ] ], "xref": [], "is_a": [ "HP:0031860" ], "is_obsolete": "", "replace_id": "" }, "HP:0031862": { "name": [ "increased heart rate variability", "increase heart rate variability" ], "alt_id": [], "def": "Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.", "synonym": [], "xref": [], "is_a": [ "HP:0031860" ], "is_obsolete": "", "replace_id": "" }, "HP:0031863": { "name": [ "bloodstream infectious agent", "bloodstream infectious agent" ], "alt_id": [], "def": "The presence of an infectious agent in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0001939" ], "is_obsolete": "", "replace_id": "" }, "HP:0031864": { "name": [ "bacteremia", "bacteremia" ], "alt_id": [], "def": "Presence of viable bacteria in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0031863" ], "is_obsolete": "", "replace_id": "" }, "HP:0031865": { "name": [ "abnormal liver physiology", "abnormal liver physiology" ], "alt_id": [], "def": "Any functional anomaly of the liver.", "synonym": [ [ "abnormal hepatic physiology", "abnormal hepatic physiology" ] ], "xref": [], "is_a": [ "HP:0001392" ], "is_obsolete": "", "replace_id": "" }, "HP:0031866": { "name": [ "clasp - knife sign", "clasp - knife sign" ], "alt_id": [], "def": "Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife.", "synonym": [], "xref": [], "is_a": [ "HP:0001257" ], "is_obsolete": "", "replace_id": "" }, "HP:0031867": { "name": [ "neck hypertonia", "neck hypertonia" ], "alt_id": [], "def": "Increased passive stiffness or tightness of the neck musculature.", "synonym": [], "xref": [], "is_a": [ "HP:0001276" ], "is_obsolete": "", "replace_id": "" }, "HP:0031868": { "name": [ "optic ataxia", "optic ataxia" ], "alt_id": [], "def": "Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected.", "synonym": [], "xref": [], "is_a": [ "HP:0011446" ], "is_obsolete": "", "replace_id": "" }, "HP:0031869": { "name": [ "recurrent joint dislocation", "recurrent joint dislocation" ], "alt_id": [], "def": "Dislocation of a given joint repeated times.", "synonym": [], "xref": [], "is_a": [ "HP:0001373" ], "is_obsolete": "", "replace_id": "" }, "HP:0031870": { "name": [ "phosphohydroxylysinuria", "phosphohydroxylysinuria" ], "alt_id": [], "def": "An elevated concentration of phosphohydroxylysine in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033097" ], "is_obsolete": "", "replace_id": "" }, "HP:0031871": { "name": [ "abnormal langerhans cell morphology", "abnormal langerhans cell morphology" ], "alt_id": [], "def": "Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis.", "synonym": [], "xref": [], "is_a": [ "HP:0025461" ], "is_obsolete": "", "replace_id": "" }, "HP:0031872": { "name": [ "absent birbeck granules in langerhans cells", "absent birbeck granule in langerhans cell" ], "alt_id": [], "def": "Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy.", "synonym": [], "xref": [], "is_a": [ "HP:0031871" ], "is_obsolete": "", "replace_id": "" }, "HP:0031873": { "name": [ "early chronotype", "early chronotype" ], "alt_id": [], "def": "A tendency towards rising very early in the morning and going to bed early in the evening.", "synonym": [ [ "early sleep onset", "early sleep onset" ] ], "xref": [], "is_a": [ "HP:0006979" ], "is_obsolete": "", "replace_id": "" }, "HP:0031874": { "name": [ "late chronotype", "late chronotype" ], "alt_id": [], "def": "A tendency towards rising very late in the morning and going to bed late at night.", "synonym": [ [ "late sleep onset", "late sleep onset" ] ], "xref": [], "is_a": [ "HP:0006979" ], "is_obsolete": "", "replace_id": "" }, "HP:0031875": { "name": [ "abnormal hepcidin level", "abnormal hepcidin level" ], "alt_id": [], "def": "Any deviation from the normal concentration of hepcidin in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0031876": { "name": [ "decreased hepcidin level", "decrease hepcidin level" ], "alt_id": [], "def": "An abnormally reduced concentration of hepcidin in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0031875" ], "is_obsolete": "", "replace_id": "" }, "HP:0031877": { "name": [ "elevated hepcidin level", "elevate hepcidin level" ], "alt_id": [], "def": "An abnormally increased concentration of hepcidin in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0031875", "HP:0033331" ], "is_obsolete": "", "replace_id": "" }, "HP:0031878": { "name": [ "acromicria", "acromicria" ], "alt_id": [], "def": "Small hands and feet in proportion to the rest of the body.", "synonym": [], "xref": [], "is_a": [ "HP:0002813" ], "is_obsolete": "", "replace_id": "" }, "HP:0031879": { "name": [ "abnormal eyelid physiology", "abnormal eyelid physiology" ], "alt_id": [], "def": "Any functional abnormality of the eyelid.", "synonym": [], "xref": [], "is_a": [ "HP:0032040" ], "is_obsolete": "", "replace_id": "" }, "HP:0031880": { "name": [ "eyelid laxity", "eyelid laxity" ], "alt_id": [], "def": "Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test.", "synonym": [ [ "lid laxity", "lid laxity" ] ], "xref": [], "is_a": [ "HP:0031879" ], "is_obsolete": "", "replace_id": "" }, "HP:0031881": { "name": [ "decreased tear drainage", "decrease tear drainage" ], "alt_id": [], "def": "A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct.", "synonym": [], "xref": [], "is_a": [ "HP:0009926" ], "is_obsolete": "", "replace_id": "" }, "HP:0031882": { "name": [ "agyria", "agyria" ], "alt_id": [], "def": "A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.", "synonym": [ [ "agyria diffuse", "agyria diffuse" ] ], "xref": [], "is_a": [ "HP:0001339" ], "is_obsolete": "", "replace_id": "" }, "HP:0031883": { "name": [ "increased proinsulin : insulin ratio", "increase proinsulin : insulin ratio" ], "alt_id": [], "def": "An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0011014" ], "is_obsolete": "", "replace_id": "" }, "HP:0031884": { "name": [ "abnormal csf glucose level", "abnormal csf glucose level" ], "alt_id": [], "def": "A deviation from normal concentration of glucose content in the cerebrospinal fluid.", "synonym": [], "xref": [], "is_a": [ "HP:0025454" ], "is_obsolete": "", "replace_id": "" }, "HP:0031885": { "name": [ "hyperglycorrhachia", "hyperglycorrhachia" ], "alt_id": [], "def": "Abnormally high glucose concentration in the cerebrospinal fluid.", "synonym": [ [ "increased csf glucose", "increase csf glucose" ] ], "xref": [], "is_a": [ "HP:0031884" ], "is_obsolete": "", "replace_id": "" }, "HP:0031886": { "name": [ "abnormal ldl cholesterol concentration", "abnormal ldl cholesterol concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.", "synonym": [ [ "abnormal ldl - c concentration", "abnormal ldl - c concentration" ], [ "abnormal ldl - c level", "abnormal ldl - c level" ], [ "abnormal ldlc concentration", "abnormal ldlc concentration" ] ], "xref": [], "is_a": [ "HP:0010979" ], "is_obsolete": "", "replace_id": "" }, "HP:0031887": { "name": [ "abnormal chylomicron concentration", "abnormal chylomicron concentration" ], "alt_id": [], "def": "Any deviation from the normal circulating concentration of chylomicrons.", "synonym": [], "xref": [], "is_a": [ "HP:0010979" ], "is_obsolete": "", "replace_id": "" }, "HP:0031888": { "name": [ "abnormal hdl cholesterol concentration", "abnormal hdl cholesterol concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0010979" ], "is_obsolete": "", "replace_id": "" }, "HP:0031889": { "name": [ "abnormal vldl cholesterol concentration", "abnormal vldl cholesterol concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0010979" ], "is_obsolete": "", "replace_id": "" }, "HP:0031890": { "name": [ "increased urine urobilinogen", "increase urine urobilinogen" ], "alt_id": [], "def": "An elevated concentration of urobilinogen in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0032472" ], "is_obsolete": "", "replace_id": "" }, "HP:0031891": { "name": [ "decreased eosinophil count", "decrease eosinophil count" ], "alt_id": [], "def": "Abnormal reduction in the count of eosinophils in the blood per volume.", "synonym": [], "xref": [], "is_a": [ "HP:0020064" ], "is_obsolete": "", "replace_id": "" }, "HP:0031898": { "name": [ "rouleaux formation", "rouleau formation" ], "alt_id": [], "def": "Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells.", "synonym": [ [ "increased rouleaux formation", "increase rouleau formation" ] ], "xref": [], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0031899": { "name": [ "abnormal coagulation factor v activity", "abnormal coagulation factor v activity" ], "alt_id": [], "def": "Any deviation from the activity of coagulation factor V.", "synonym": [ [ "abnormal factor v activity", "abnormal factor v activity" ] ], "xref": [], "is_a": [ "HP:0010990" ], "is_obsolete": "", "replace_id": "" }, "HP:0031900": { "name": [ "obsolete abnormal serum tryptase concentration", "obsolete abnormal serum tryptase concentration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0031901" }, "HP:0031901": { "name": [ "elevated total serum tryptase", "elevate total serum tryptase" ], "alt_id": [ "HP:0031900" ], "def": "An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0031902": { "name": [ "obsolete decreased serum mast cell beta - tryptase concentration", "obsolete decrease serum mast cell beta - tryptase concentration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0031903": { "name": [ "abnormal circulating selenium concentration", "abnormal circulate selenium concentration" ], "alt_id": [], "def": "Any deviation from the normal circulating concentration of selenium.", "synonym": [ [ "abnormal serum selenium concentration", "abnormal serum selenium concentration" ] ], "xref": [], "is_a": [ "HP:0032180" ], "is_obsolete": "", "replace_id": "" }, "HP:0031904": { "name": [ "abnormal total hemolytic complement activity", "abnormal total hemolytic complement activity" ], "alt_id": [], "def": "Any deviation from the normal total hemolytic complement activity in the circulation.", "synonym": [ [ "abnormal ch50", "abnormal ch50" ] ], "xref": [], "is_a": [ "HP:0005339" ], "is_obsolete": "", "replace_id": "" }, "HP:0031905": { "name": [ "increased total hemolytic complement activity", "increase total hemolytic complement activity" ], "alt_id": [], "def": "An abnormally elevated total hemolytic complement activity in the circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0031904" ], "is_obsolete": "", "replace_id": "" }, "HP:0031906": { "name": [ "decreased total hemolytic complement activity", "decrease total hemolytic complement activity" ], "alt_id": [], "def": "An abnormally reduced total hemolytic complement activity in the circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0031904" ], "is_obsolete": "", "replace_id": "" }, "HP:0031907": { "name": [ "anti - mitochondrial m2 antibody positivity", "anti - mitochondrial m2 antibody positivity" ], "alt_id": [], "def": "The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum.", "synonym": [ [ "ama - m2 positive", "ama - m2 positive" ], [ "anti - pyruvate dehydrogenase antibody positivity", "anti - pyruvate dehydrogenase antibody positivity" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0031908": { "name": [ "micrographia", "micrographia" ], "alt_id": [], "def": "Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task.", "synonym": [], "xref": [], "is_a": [ "HP:0011446" ], "is_obsolete": "", "replace_id": "" }, "HP:0031909": { "name": [ "unicornuate uterus", "unicornuate uterus" ], "alt_id": [], "def": "A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.", "synonym": [], "xref": [], "is_a": [ "HP:0031105" ], "is_obsolete": "", "replace_id": "" }, "HP:0031910": { "name": [ "abnormal cranial nerve physiology", "abnormal cranial nerve physiology" ], "alt_id": [], "def": "A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.", "synonym": [], "xref": [], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0031911": { "name": [ "abnormal fifth cranial nerve physiology", "abnormal fifth cranial nerve physiology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0031910" ], "is_obsolete": "", "replace_id": "" }, "HP:0031912": { "name": [ "trigeminal anesthesia", "trigeminal anesthesia" ], "alt_id": [], "def": "Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth.", "synonym": [ [ "trigeminal anaesthesia", "trigeminal anaesthesia" ] ], "xref": [], "is_a": [ "HP:0031911" ], "is_obsolete": "", "replace_id": "" }, "HP:0031913": { "name": [ "rhombencephalosynapsis", "rhombencephalosynapsis" ], "alt_id": [], "def": "Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis.", "synonym": [], "xref": [], "is_a": [ "HP:0001317" ], "is_obsolete": "", "replace_id": "" }, "HP:0031914": { "name": [ "fluctuating", "fluctuate" ], "alt_id": [], "def": "Varying irregularly over time in severity, amount, or amplitude.", "synonym": [], "xref": [], "is_a": [ "HP:0011008" ], "is_obsolete": "", "replace_id": "" }, "HP:0031915": { "name": [ "stable", "stable" ], "alt_id": [], "def": "This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time.", "synonym": [], "xref": [], "is_a": [ "HP:0011008" ], "is_obsolete": "", "replace_id": "" }, "HP:0031917": { "name": [ "digital ulcer", "digital ulcer" ], "alt_id": [], "def": "An open sore on the surface of the skin of a finger or toe.", "synonym": [], "xref": [], "is_a": [ "HP:0200042" ], "is_obsolete": "", "replace_id": "" }, "HP:0031918": { "name": [ "ovarian sex cord - stromal tumor", "ovarian sex cord - stromal tumor" ], "alt_id": [], "def": "A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts.", "synonym": [ [ "ovarian sex cord - stromal tumour", "ovarian sex cord - stromal tumour" ] ], "xref": [], "is_a": [ "HP:0100615" ], "is_obsolete": "", "replace_id": "" }, "HP:0031919": { "name": [ "juvenile type ovarian granulosa cell tumor", "juvenile type ovarian granulosa cell tumor" ], "alt_id": [], "def": "Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type.", "synonym": [ [ "juvenile type ovarian granulosa cell tumour", "juvenile type ovarian granulosa cell tumour" ], [ "ovarian juvenile granulosa cell tumor", "ovarian juvenile granulosa cell tumor" ], [ "ovarian juvenile granulosa cell tumour", "ovarian juvenile granulosa cell tumour" ] ], "xref": [], "is_a": [ "HP:0031918" ], "is_obsolete": "", "replace_id": "" }, "HP:0031920": { "name": [ "malignant ovarian granulosa cell tumor", "malignant ovarian granulosa cell tumor" ], "alt_id": [], "def": "An aggressive granulosa cell tumor that arises from the ovary.", "synonym": [ [ "malignant ovarian granulosa cell tumour", "malignant ovarian granulosa cell tumour" ] ], "xref": [], "is_a": [ "HP:0100615" ], "is_obsolete": "", "replace_id": "" }, "HP:0031921": { "name": [ "gastrocnemius myalgia", "gastrocnemius myalgia" ], "alt_id": [], "def": "Pain of the gastrocnemius muscle.", "synonym": [ [ "calf muscle pain", "calf muscle pain" ], [ "calf myalgia", "calf myalgia" ] ], "xref": [], "is_a": [ "HP:0003326" ], "is_obsolete": "", "replace_id": "" }, "HP:0031922": { "name": [ "renal artery duplication", "renal artery duplication" ], "alt_id": [], "def": "The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body.", "synonym": [ [ "accessory renal artery", "accessory renal artery" ], [ "double renal artery", "double renal artery" ] ], "xref": [], "is_a": [ "HP:0008776" ], "is_obsolete": "", "replace_id": "" }, "HP:0031923": { "name": [ "hematocolpos", "hematocolpos" ], "alt_id": [], "def": "Accumulation of blood in the vagina usually due to vaginal obstruction.", "synonym": [ [ "haematocolpos", "haematocolpos" ] ], "xref": [], "is_a": [ "HP:0000142" ], "is_obsolete": "", "replace_id": "" }, "HP:0031924": { "name": [ "rope sign", "rope sign" ], "alt_id": [], "def": "The presence of linear erythematous palpable cords, often on the lateral trunk.", "synonym": [], "xref": [], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0031925": { "name": [ "rosette", "rosette" ], "alt_id": [], "def": "A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub.", "synonym": [], "xref": [], "is_a": [ "HP:0025461" ], "is_obsolete": "", "replace_id": "" }, "HP:0031926": { "name": [ "homer wright rosette", "homer wright rosette" ], "alt_id": [], "def": "A type of rosette in which the central lumen or hub is filled with fiber-like processes.", "synonym": [], "xref": [], "is_a": [ "HP:0031925" ], "is_obsolete": "", "replace_id": "" }, "HP:0031927": { "name": [ "flexner - wintersteiner rosette", "flexner - wintersteiner rosette" ], "alt_id": [], "def": "The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil.", "synonym": [], "xref": [], "is_a": [ "HP:0031925" ], "is_obsolete": "", "replace_id": "" }, "HP:0031928": { "name": [ "true ependymal rosette", "true ependymal rosette" ], "alt_id": [], "def": "A type of rosette in which a halo of cells surrounds an empty lumen.", "synonym": [], "xref": [], "is_a": [ "HP:0031925" ], "is_obsolete": "", "replace_id": "" }, "HP:0031929": { "name": [ "perivascular pseudorosette", "perivascular pseudorosette" ], "alt_id": [], "def": "A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel.", "synonym": [], "xref": [], "is_a": [ "HP:0031925" ], "is_obsolete": "", "replace_id": "" }, "HP:0031930": { "name": [ "neurocytic rosette", "neurocytic rosette" ], "alt_id": [], "def": "A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular.", "synonym": [ [ "pineocytomatous rosette", "pineocytomatous rosette" ] ], "xref": [], "is_a": [ "HP:0031925" ], "is_obsolete": "", "replace_id": "" }, "HP:0031931": { "name": [ "ocular flutter", "ocular flutter" ], "alt_id": [], "def": "Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation.", "synonym": [], "xref": [], "is_a": [ "HP:0012547", "HP:0032104" ], "is_obsolete": "", "replace_id": "" }, "HP:0031932": { "name": [ "aorto - left ventricular tunnel", "aorto - leave ventricular tunnel" ], "alt_id": [], "def": "Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity.", "synonym": [ [ "left ventricle to aorta tunnel", "left ventricle to aorta tunnel" ] ], "xref": [], "is_a": [ "HP:0011627" ], "is_obsolete": "", "replace_id": "" }, "HP:0031933": { "name": [ "aorto - right ventricular tunnel", "aorto - right ventricular tunnel" ], "alt_id": [], "def": "The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle.", "synonym": [ [ "right ventricle to aorta tunnel", "right ventricle to aorta tunnel" ] ], "xref": [], "is_a": [ "HP:0011627" ], "is_obsolete": "", "replace_id": "" }, "HP:0031934": { "name": [ "abnormal descending aorta morphology", "abnormal descend aorta morphology" ], "alt_id": [], "def": "A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen.", "synonym": [], "xref": [], "is_a": [ "HP:0001679" ], "is_obsolete": "", "replace_id": "" }, "HP:0031935": { "name": [ "ascending aorta hypoplasia", "ascend aorta hypoplasia" ], "alt_id": [], "def": "Significant luminal narrowing of a long segment of or the entire ascending aorta.", "synonym": [], "xref": [], "is_a": [ "HP:0031784" ], "is_obsolete": "", "replace_id": "" }, "HP:0031936": { "name": [ "delayed ability to walk", "delay ability to walk" ], "alt_id": [], "def": "A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.", "synonym": [ [ "delayed walking", "delay walking" ] ], "xref": [], "is_a": [ "HP:0002194" ], "is_obsolete": "", "replace_id": "" }, "HP:0031937": { "name": [ "tachylalia", "tachylalia" ], "alt_id": [], "def": "Extreme rapidity of speech.", "synonym": [ [ "tachylogia", "tachylogia" ] ], "xref": [], "is_a": [ "HP:0002167" ], "is_obsolete": "", "replace_id": "" }, "HP:0031938": { "name": [ "abnormal conus terminalis morphology", "abnormal conus terminalis morphology" ], "alt_id": [], "def": "Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae).", "synonym": [ [ "abnormal conus medullaris morphology", "abnormal conus medullaris morphology" ] ], "xref": [], "is_a": [ "HP:0002143" ], "is_obsolete": "", "replace_id": "" }, "HP:0031939": { "name": [ "conus terminalis arteriovenous malformation", "conus terminalis arteriovenous malformation" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0031938" ], "is_obsolete": "", "replace_id": "" }, "HP:0031941": { "name": [ "abnormal portal venous system morphology", "abnormal portal venous system morphology" ], "alt_id": [], "def": "Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins.", "synonym": [], "xref": [], "is_a": [ "HP:0006707" ], "is_obsolete": "", "replace_id": "" }, "HP:0031942": { "name": [ "congenital absence of portal vein", "congenital absence of portal vein" ], "alt_id": [], "def": "Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts.", "synonym": [ [ "missing portal vein", "miss portal vein" ] ], "xref": [], "is_a": [ "HP:0031941" ], "is_obsolete": "", "replace_id": "" }, "HP:0031943": { "name": [ "akathisia", "akathisia" ], "alt_id": [], "def": "A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria.", "synonym": [], "xref": [], "is_a": [ "HP:0000711" ], "is_obsolete": "", "replace_id": "" }, "HP:0031944": { "name": [ "pleural thickening", "pleural thickening" ], "alt_id": [], "def": "An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.", "synonym": [ [ "pleural incrassation", "pleural incrassation" ] ], "xref": [], "is_a": [ "HP:0002103" ], "is_obsolete": "", "replace_id": "" }, "HP:0031945": { "name": [ "elevated circulating n , n - dimethylglycine concentration", "elevate circulate n , n - dimethylglycine concentration" ], "alt_id": [], "def": "An increased concentration of N,N-dimethylglycine in the circulation.", "synonym": [ [ "elevated n , n - dimethylglycine level", "elevate n , n - dimethylglycine level" ] ], "xref": [], "is_a": [ "HP:0033109" ], "is_obsolete": "", "replace_id": "" }, "HP:0031946": { "name": [ "elevated urinary n , n - dimethylglycine level", "elevate urinary n , n - dimethylglycine level" ], "alt_id": [], "def": "An increased concentration of N,N-dimethylglycine in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033098" ], "is_obsolete": "", "replace_id": "" }, "HP:0031947": { "name": [ "tongue tremor", "tongue tremor" ], "alt_id": [], "def": "An unintentional, oscillating to-and-fro muscle movement affecting the tongue.", "synonym": [ [ "jerky movements of the tongue", "jerky movement of the tongue" ] ], "xref": [], "is_a": [ "HP:0030188" ], "is_obsolete": "", "replace_id": "" }, "HP:0031948": { "name": [ "snowball lesion of corpus callosum", "snowball lesion of corpus callosum" ], "alt_id": [], "def": "Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome.", "synonym": [], "xref": [], "is_a": [ "HP:0001273" ], "is_obsolete": "", "replace_id": "" }, "HP:0031949": { "name": [ "recurrent bacterial upper respiratory tract infections", "recurrent bacterial upper respiratory tract infection" ], "alt_id": [], "def": "An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).", "synonym": [ [ "recurrent bacterial uri", "recurrent bacterial uri" ] ], "xref": [], "is_a": [ "HP:0002788" ], "is_obsolete": "", "replace_id": "" }, "HP:0031950": { "name": [ "usual interstitial pneumonia", "usual interstitial pneumonia" ], "alt_id": [], "def": "Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing.", "synonym": [], "xref": [], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0031951": { "name": [ "nocturnal seizures", "nocturnal seizure" ], "alt_id": [], "def": "Seizures that occur while the affected individual is sleeping.", "synonym": [ [ "sleep seizures", "sleep seizure" ] ], "xref": [], "is_a": [ "HP:0001250" ], "is_obsolete": "", "replace_id": "" }, "HP:0031952": { "name": [ "neurogenic claudication", "neurogenic claudication" ], "alt_id": [], "def": "Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine.", "synonym": [], "xref": [], "is_a": [ "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0031953": { "name": [ "cautious gait", "cautious gait" ], "alt_id": [], "def": "Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen.", "synonym": [ [ "senile gait", "senile gait" ] ], "xref": [], "is_a": [ "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0031954": { "name": [ "dystonic gait", "dystonic gait" ], "alt_id": [], "def": "Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients.", "synonym": [], "xref": [], "is_a": [ "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0031955": { "name": [ "antalgic gait", "antalgic gait" ], "alt_id": [], "def": "To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.", "synonym": [ [ "limp", "limp" ] ], "xref": [], "is_a": [ "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0031956": { "name": [ "elevated circulating aspartate aminotransferase concentration", "elevate circulate aspartate aminotransferase concentration" ], "alt_id": [], "def": "An abnormally high concentration in the circulation of aspartate aminotransferase (AST).", "synonym": [ [ "aspartate aminotransferase increased", "aspartate aminotransferase increase" ], [ "elevated serum aspartate aminotransferase", "elevate serum aspartate aminotransferase" ], [ "elevated serum ast", "elevate serum ast" ], [ "elevated serum glutamic oxaloacetic transaminase", "elevate serum glutamic oxaloacetic transaminase" ] ], "xref": [], "is_a": [ "HP:0002910" ], "is_obsolete": "", "replace_id": "" }, "HP:0031957": { "name": [ "spastic hemiparetic gait", "spastic hemiparetic gait" ], "alt_id": [], "def": "Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster.", "synonym": [ [ "wernicke - mann gait", "wernicke - mann gait" ] ], "xref": [], "is_a": [ "HP:0002064" ], "is_obsolete": "", "replace_id": "" }, "HP:0031958": { "name": [ "spastic paraparetic gait", "spastic paraparetic gait" ], "alt_id": [], "def": "A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait.", "synonym": [], "xref": [], "is_a": [ "HP:0002064" ], "is_obsolete": "", "replace_id": "" }, "HP:0031959": { "name": [ "leg dystonia", "leg dystonia" ], "alt_id": [], "def": "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.", "synonym": [], "xref": [], "is_a": [ "HP:0002451" ], "is_obsolete": "", "replace_id": "" }, "HP:0031960": { "name": [ "arm dystonia", "arm dystonia" ], "alt_id": [], "def": "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.", "synonym": [], "xref": [], "is_a": [ "HP:0002451" ], "is_obsolete": "", "replace_id": "" }, "HP:0031961": { "name": [ "abnormal serum anion gap", "abnormal serum anion gap" ], "alt_id": [], "def": "Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration.", "synonym": [], "xref": [], "is_a": [ "HP:0004360" ], "is_obsolete": "", "replace_id": "" }, "HP:0031962": { "name": [ "elevated serum anion gap", "elevate serum anion gap" ], "alt_id": [], "def": "An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).", "synonym": [], "xref": [], "is_a": [ "HP:0031961" ], "is_obsolete": "", "replace_id": "" }, "HP:0031963": { "name": [ "decreased serum anion gap", "decrease serum anion gap" ], "alt_id": [], "def": "An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).", "synonym": [], "xref": [], "is_a": [ "HP:0031961" ], "is_obsolete": "", "replace_id": "" }, "HP:0031964": { "name": [ "elevated circulating alanine aminotransferase concentration", "elevate circulate alanine aminotransferase concentration" ], "alt_id": [], "def": "An abnormally high concentration in the circulation of alanine aminotransferase (ALT).", "synonym": [ [ "alanine aminotransferase increased", "alanine aminotransferase increase" ], [ "elevated serum alanine aminotransferase", "elevate serum alanine aminotransferase" ], [ "elevated serum alt", "elevate serum alt" ], [ "elevated serum glutamic - pyruvic transaminase", "elevate serum glutamic - pyruvic transaminase" ] ], "xref": [], "is_a": [ "HP:0002910" ], "is_obsolete": "", "replace_id": "" }, "HP:0031965": { "name": [ "increased rbc distribution width", "increase rbc distribution width" ], "alt_id": [], "def": "Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.", "synonym": [ [ "increased red blood cell distribution width", "increase red blood cell distribution width" ] ], "xref": [], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0031967": { "name": [ "cloudy urine", "cloudy urine" ], "alt_id": [], "def": "The appearance of the urine having visible material in suspension, i.e., appearing cloudy.", "synonym": [ [ "turbid urine", "turbid urine" ] ], "xref": [], "is_a": [ "HP:0033072" ], "is_obsolete": "", "replace_id": "" }, "HP:0031969": { "name": [ "reduced blood urea nitrogen", "reduce blood urea nitrogen" ], "alt_id": [], "def": "An abnormally low concentration of urea nitrogen in the blood.", "synonym": [ [ "reduced bun", "reduce bun" ] ], "xref": [], "is_a": [ "HP:0031970" ], "is_obsolete": "", "replace_id": "" }, "HP:0031970": { "name": [ "abnormal blood urea nitrogen concentration", "abnormal blood urea nitrogen concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of urea nitrogen in the blood.", "synonym": [ [ "abnormal bun concentration", "abnormal bun concentration" ] ], "xref": [], "is_a": [ "HP:0004364" ], "is_obsolete": "", "replace_id": "" }, "HP:0031971": { "name": [ "subaortic ventricular septal bulge", "subaortic ventricular septal bulge" ], "alt_id": [], "def": "A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy.", "synonym": [], "xref": [], "is_a": [ "HP:0011103" ], "is_obsolete": "", "replace_id": "" }, "HP:0031972": { "name": [ "presyncope", "presyncope" ], "alt_id": [], "def": "Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause.", "synonym": [], "xref": [], "is_a": [ "HP:0011025" ], "is_obsolete": "", "replace_id": "" }, "HP:0031973": { "name": [ "increased vertical cup - to - disc ratio", "increased vertical cup - to - disc ratio" ], "alt_id": [], "def": "An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc.", "synonym": [], "xref": [], "is_a": [ "HP:0012796" ], "is_obsolete": "", "replace_id": "" }, "HP:0031974": { "name": [ "increased vertical cup - to - disc ratio - 0.6", "increased vertical cup - to - disc ratio - 0.6" ], "alt_id": [], "def": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3).", "synonym": [], "xref": [], "is_a": [ "HP:0031973" ], "is_obsolete": "", "replace_id": "" }, "HP:0031975": { "name": [ "increased vertical cup - to - disc ratio - 0.7", "increased vertical cup - to - disc ratio - 0.7" ], "alt_id": [], "def": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3).", "synonym": [], "xref": [], "is_a": [ "HP:0031973" ], "is_obsolete": "", "replace_id": "" }, "HP:0031976": { "name": [ "increased vertical cup - to - disc ratio - 0.8", "increased vertical cup - to - disc ratio - 0.8" ], "alt_id": [], "def": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3).", "synonym": [], "xref": [], "is_a": [ "HP:0031973" ], "is_obsolete": "", "replace_id": "" }, "HP:0031977": { "name": [ "increased vertical cup - to - disc ratio - 0.9", "increased vertical cup - to - disc ratio - 0.9" ], "alt_id": [], "def": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3).", "synonym": [], "xref": [], "is_a": [ "HP:0031973" ], "is_obsolete": "", "replace_id": "" }, "HP:0031978": { "name": [ "increased vertical cup - to - disc ratio - 1.0", "increased vertical cup - to - disc ratio - 1.0" ], "alt_id": [], "def": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3).", "synonym": [], "xref": [], "is_a": [ "HP:0031973" ], "is_obsolete": "", "replace_id": "" }, "HP:0031979": { "name": [ "abnormal urine carbohydrate level", "abnormal urine carbohydrate level" ], "alt_id": [], "def": "Any deviation from the normal concentration of a carbohydrate in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0031980": { "name": [ "abnormal urine carboxylic acid level", "abnormal urine carboxylic acid level" ], "alt_id": [], "def": "Any deviation from the normal concentration of a carboxylic acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0031981": { "name": [ "elevated urine glycolate", "elevate urine glycolate" ], "alt_id": [], "def": "An increased concentration of glycolate in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031980" ], "is_obsolete": "", "replace_id": "" }, "HP:0031982": { "name": [ "abnormal putamen morphology", "abnormal putamen morphology" ], "alt_id": [], "def": "Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum.", "synonym": [], "xref": [], "is_a": [ "HP:0010994" ], "is_obsolete": "", "replace_id": "" }, "HP:0031983": { "name": [ "abnormal pulmonary thoracic imaging finding", "abnormal pulmonary thoracic image find" ], "alt_id": [], "def": "This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.", "synonym": [ [ "abnormal chest radiograph finding ( lung )", "abnormal chest radiograph finding ( lung )" ] ], "xref": [], "is_a": [ "HP:0012252" ], "is_obsolete": "", "replace_id": "" }, "HP:0031984": { "name": [ "esophageal food impaction", "esophageal food impaction" ], "alt_id": [], "def": "A piece of food that has gotten stuck in the esophagus and prevents further swallowing.", "synonym": [], "xref": [], "is_a": [ "HP:0002031" ], "is_obsolete": "", "replace_id": "" }, "HP:0031985": { "name": [ "esophageal exudate", "esophageal exudate" ], "alt_id": [], "def": "An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa.", "synonym": [], "xref": [], "is_a": [ "HP:0002031" ], "is_obsolete": "", "replace_id": "" }, "HP:0031986": { "name": [ "polyminimyoclonus", "polyminimyoclonus" ], "alt_id": [], "def": "Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant.", "synonym": [], "xref": [], "is_a": [ "HP:0001336" ], "is_obsolete": "", "replace_id": "" }, "HP:0031987": { "name": [ "diminished ability to concentrate", "diminish ability to concentrate" ], "alt_id": [], "def": "Being unable to focus one's attention or mental effort on a particular object or activity.", "synonym": [ [ "concentration problems", "concentration problem" ], [ "lack of concentration", "lack of concentration" ], [ "poor concentration", "poor concentration" ] ], "xref": [], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0031988": { "name": [ "obsolete muscle spasm", "obsolete muscle spasm" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0003394" }, "HP:0031989": { "name": [ "perioral spasm", "perioral spasm" ], "alt_id": [], "def": "A sudden involuntary contraction of the musculature surrounding the mouth.", "synonym": [], "xref": [], "is_a": [ "HP:0003394" ], "is_obsolete": "", "replace_id": "" }, "HP:0031990": { "name": [ "chvostek sign", "chvostek sign" ], "alt_id": [], "def": "A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve.", "synonym": [], "xref": [], "is_a": [ "HP:0004305" ], "is_obsolete": "", "replace_id": "" }, "HP:0031991": { "name": [ "increased urinary excretion of galactosyl hydroxylysine", "increase urinary excretion of galactosyl hydroxylysine" ], "alt_id": [], "def": "An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption.", "synonym": [], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0031992": { "name": [ "apical hypertrophic cardiomyopathy", "apical hypertrophic cardiomyopathy" ], "alt_id": [], "def": "Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.", "synonym": [], "xref": [], "is_a": [ "HP:0001639" ], "is_obsolete": "", "replace_id": "" }, "HP:0031993": { "name": [ "hoffmann sign", "hoffmann sign" ], "alt_id": [], "def": "A Hoffman test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.", "synonym": [], "xref": [], "is_a": [ "HP:0007256" ], "is_obsolete": "", "replace_id": "" }, "HP:0031994": { "name": [ "bronchial breath sound", "bronchial breath sound" ], "alt_id": [], "def": "Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy.", "synonym": [], "xref": [], "is_a": [ "HP:0030829" ], "is_obsolete": "", "replace_id": "" }, "HP:0031995": { "name": [ "squawks", "squawk" ], "alt_id": [], "def": "Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles.", "synonym": [], "xref": [], "is_a": [ "HP:0030828" ], "is_obsolete": "", "replace_id": "" }, "HP:0031996": { "name": [ "inspiratory crackles", "inspiratory crackle" ], "alt_id": [], "def": "Crackles that are heard during the inspiratory phase.", "synonym": [], "xref": [], "is_a": [ "HP:0030830" ], "is_obsolete": "", "replace_id": "" }, "HP:0031997": { "name": [ "early inspiratory crackles", "early inspiratory crackle" ], "alt_id": [], "def": "Crackles that appear at the beginning of inspiration and end before mid-inspiration.", "synonym": [], "xref": [], "is_a": [ "HP:0031996" ], "is_obsolete": "", "replace_id": "" }, "HP:0031998": { "name": [ "late inspiratory crackles", "late inspiratory crackle" ], "alt_id": [], "def": "Crackles that appear any time after the beginning of inspiration and last till the end of inspiration.", "synonym": [], "xref": [], "is_a": [ "HP:0031996" ], "is_obsolete": "", "replace_id": "" }, "HP:0031999": { "name": [ "expiratory crackles", "expiratory crackle" ], "alt_id": [], "def": "Crackles that occur during expiration.", "synonym": [], "xref": [], "is_a": [ "HP:0030830" ], "is_obsolete": "", "replace_id": "" }, "HP:0032000": { "name": [ "pleural rub", "pleural rub" ], "alt_id": [], "def": "An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles", "synonym": [], "xref": [], "is_a": [ "HP:0030829" ], "is_obsolete": "", "replace_id": "" }, "HP:0032001": { "name": [ "pink urine", "pink urine" ], "alt_id": [], "def": "An abnormal pink color of urine.", "synonym": [], "xref": [], "is_a": [ "HP:0012086" ], "is_obsolete": "", "replace_id": "" }, "HP:0032002": { "name": [ "orange urine", "orange urine" ], "alt_id": [], "def": "An abnormal orange color of urine.", "synonym": [], "xref": [], "is_a": [ "HP:0012086" ], "is_obsolete": "", "replace_id": "" }, "HP:0032003": { "name": [ "green urine", "green urine" ], "alt_id": [], "def": "An abnormal green color of urine.", "synonym": [], "xref": [], "is_a": [ "HP:0012086" ], "is_obsolete": "", "replace_id": "" }, "HP:0032004": { "name": [ "pruritus vulvae", "pruritus vulva" ], "alt_id": [], "def": "A sensation of itching in the vulvar region.", "synonym": [], "xref": [], "is_a": [ "HP:0000989" ], "is_obsolete": "", "replace_id": "" }, "HP:0032005": { "name": [ "hemidystonia", "hemidystonia" ], "alt_id": [], "def": "Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg.", "synonym": [], "xref": [], "is_a": [ "HP:0001332" ], "is_obsolete": "", "replace_id": "" }, "HP:0032006": { "name": [ "lip tremor", "lip tremor" ], "alt_id": [], "def": "An unintentional, oscillating to-and-fro muscle movement affecting the lip.", "synonym": [], "xref": [], "is_a": [ "HP:0030188" ], "is_obsolete": "", "replace_id": "" }, "HP:0032007": { "name": [ "maceration", "maceration" ], "alt_id": [], "def": "A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue.", "synonym": [ [ "maceration of the skin", "maceration of the skin" ], [ "skin maceration", "skin maceration" ] ], "xref": [], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0032008": { "name": [ "pulmonary fat embolism", "pulmonary fat embolism" ], "alt_id": [], "def": "The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung.", "synonym": [ [ "fat embolism", "fat embolism" ] ], "xref": [], "is_a": [ "HP:0002204" ], "is_obsolete": "", "replace_id": "" }, "HP:0032009": { "name": [ "infantile constant exotropia", "infantile constant exotropia" ], "alt_id": [], "def": "Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.", "synonym": [ [ "infantile ( constant ) exotropia", "infantile ( constant ) exotropia" ] ], "xref": [], "is_a": [ "HP:0031713" ], "is_obsolete": "", "replace_id": "" }, "HP:0032010": { "name": [ "basic constant exotropia", "basic constant exotropia" ], "alt_id": [], "def": "Constant exotropia for near and distance, presenting after 6 months of age.", "synonym": [ [ "basic ( constant ) exotropia", "basic ( constant ) exotropia" ] ], "xref": [], "is_a": [ "HP:0031713" ], "is_obsolete": "", "replace_id": "" }, "HP:0032011": { "name": [ "heterophoria", "heterophoria" ], "alt_id": [], "def": "Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.", "synonym": [], "xref": [], "is_a": [ "HP:0000486" ], "is_obsolete": "", "replace_id": "" }, "HP:0032012": { "name": [ "heterotropia", "heterotropia" ], "alt_id": [], "def": "Manifest deviation of the visual axes not controlled by fusion.", "synonym": [], "xref": [], "is_a": [ "HP:0000486" ], "is_obsolete": "", "replace_id": "" }, "HP:0032013": { "name": [ "hypermetric horizontal saccades", "hypermetric horizontal saccade" ], "alt_id": [], "def": "Overshoot of horizontal (sideways) saccadic eye movements.", "synonym": [], "xref": [], "is_a": [ "HP:0007338" ], "is_obsolete": "", "replace_id": "" }, "HP:0032014": { "name": [ "dysmetric vertical saccades", "dysmetric vertical saccade" ], "alt_id": [], "def": "Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction.", "synonym": [], "xref": [], "is_a": [ "HP:0000641" ], "is_obsolete": "", "replace_id": "" }, "HP:0032015": { "name": [ "dysmetric horizontal saccades", "dysmetric horizontal saccade" ], "alt_id": [], "def": "Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction.", "synonym": [], "xref": [], "is_a": [ "HP:0000641" ], "is_obsolete": "", "replace_id": "" }, "HP:0032016": { "name": [ "abnormal sputum", "abnormal sputum" ], "alt_id": [], "def": "Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.", "synonym": [ [ "abnormal sputum morphology", "abnormal sputum morphology" ] ], "xref": [], "is_a": [ "HP:0012252" ], "is_obsolete": "", "replace_id": "" }, "HP:0032017": { "name": [ "sputum eosinophilia", "sputum eosinophilia" ], "alt_id": [], "def": "An increased proportion of eosinophils in sputum in the differentiated cell count.", "synonym": [], "xref": [], "is_a": [ "HP:0032016" ], "is_obsolete": "", "replace_id": "" }, "HP:0032018": { "name": [ "multiple mononeuropathy", "multiple mononeuropathy" ], "alt_id": [], "def": "A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially.", "synonym": [ [ "mononeuritis multiplex", "mononeuritis multiplex" ] ], "xref": [], "is_a": [ "HP:0009830" ], "is_obsolete": "", "replace_id": "" }, "HP:0032019": { "name": [ "muscle eosinophilia", "muscle eosinophilia" ], "alt_id": [], "def": "Eosinophil infiltration of skeletal muscle.", "synonym": [ [ "eosinophilic infiltration of skeletal muscle", "eosinophilic infiltration of skeletal muscle" ] ], "xref": [], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0032020": { "name": [ "eosinophilic bladder infiltration", "eosinophilic bladder infiltration" ], "alt_id": [], "def": "Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis.", "synonym": [ [ "eosinophilic cystitis", "eosinophilic cystitis" ] ], "xref": [], "is_a": [ "HP:0025487" ], "is_obsolete": "", "replace_id": "" }, "HP:0032021": { "name": [ "eosinophilic liver infiltration", "eosinophilic liver infiltration" ], "alt_id": [], "def": "Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.", "synonym": [ [ "eosinophilic hepatitis", "eosinophilic hepatitis" ] ], "xref": [], "is_a": [ "HP:0030146", "HP:0032064" ], "is_obsolete": "", "replace_id": "" }, "HP:0032022": { "name": [ "eosinophilic dermal infiltration", "eosinophilic dermal infiltration" ], "alt_id": [], "def": "Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.", "synonym": [ [ "eosinophilic dermatitis", "eosinophilic dermatitis" ] ], "xref": [], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0032023": { "name": [ "eosinophilic gallbladder infiltration", "eosinophilic gallbladder infiltration" ], "alt_id": [], "def": "Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.", "synonym": [ [ "eosinophilic cholecystitis", "eosinophilic cholecystitis" ] ], "xref": [], "is_a": [ "HP:0012437", "HP:0032064" ], "is_obsolete": "", "replace_id": "" }, "HP:0032024": { "name": [ "ileal ulcer", "ileal ulcer" ], "alt_id": [], "def": "An erosion of the mucous membrane in a portion of the ileum.", "synonym": [], "xref": [], "is_a": [ "HP:0001549" ], "is_obsolete": "", "replace_id": "" }, "HP:0032025": { "name": [ "reduced serum alpha - 1 - antitrypsin", "reduce serum alpha - 1 - antitrypsin" ], "alt_id": [], "def": "A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0032026": { "name": [ "anetoderma", "anetoderma" ], "alt_id": [], "def": "Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.", "synonym": [], "xref": [], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0032027": { "name": [ "retinal dots", "retinal dot" ], "alt_id": [], "def": "Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.", "synonym": [], "xref": [], "is_a": [ "HP:0030506" ], "is_obsolete": "", "replace_id": "" }, "HP:0032028": { "name": [ "macular dots", "macular dot" ], "alt_id": [], "def": "Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.", "synonym": [], "xref": [], "is_a": [ "HP:0030500" ], "is_obsolete": "", "replace_id": "" }, "HP:0032029": { "name": [ "floppy eyelid", "floppy eyelid" ], "alt_id": [], "def": "Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis.", "synonym": [], "xref": [], "is_a": [ "HP:0031880" ], "is_obsolete": "", "replace_id": "" }, "HP:0032030": { "name": [ "lateral canthal tendon laxity", "lateral canthal tendon laxity" ], "alt_id": [], "def": "Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed.", "synonym": [], "xref": [], "is_a": [ "HP:0031880" ], "is_obsolete": "", "replace_id": "" }, "HP:0032031": { "name": [ "medial canthal tendon laxity", "medial canthal tendon laxity" ], "alt_id": [], "def": "Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally.", "synonym": [], "xref": [], "is_a": [ "HP:0031880" ], "is_obsolete": "", "replace_id": "" }, "HP:0032032": { "name": [ "horizontal eyelid laxity", "horizontal eyelid laxity" ], "alt_id": [], "def": "Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present.", "synonym": [], "xref": [], "is_a": [ "HP:0031880" ], "is_obsolete": "", "replace_id": "" }, "HP:0032033": { "name": [ "vertical eyelid laxity", "vertical eyelid laxity" ], "alt_id": [], "def": "Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present.", "synonym": [], "xref": [], "is_a": [ "HP:0031880" ], "is_obsolete": "", "replace_id": "" }, "HP:0032034": { "name": [ "upper eyelid laxity", "upper eyelid laxity" ], "alt_id": [], "def": "Abnormally lax upper eyelid associated with tissue relaxation.", "synonym": [], "xref": [], "is_a": [ "HP:0031880" ], "is_obsolete": "", "replace_id": "" }, "HP:0032035": { "name": [ "lower eyelid laxity", "low eyelid laxity" ], "alt_id": [], "def": "Abnormally lax lower eyelid associated with tissue relaxation.", "synonym": [], "xref": [], "is_a": [ "HP:0031880" ], "is_obsolete": "", "replace_id": "" }, "HP:0032036": { "name": [ "abnormal contrast sensitivity", "abnormal contrast sensitivity" ], "alt_id": [], "def": "An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target.", "synonym": [], "xref": [], "is_a": [ "HP:0000504" ], "is_obsolete": "", "replace_id": "" }, "HP:0032037": { "name": [ "mildly reduced visual acuity", "mildly reduce visual acuity" ], "alt_id": [], "def": "Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation).", "synonym": [ [ "mild reduction in visual acuity", "mild reduction in visual acuity" ], [ "mild vision loss", "mild vision loss" ], [ "mild visual loss", "mild visual loss" ] ], "xref": [], "is_a": [ "HP:0007663" ], "is_obsolete": "", "replace_id": "" }, "HP:0032039": { "name": [ "abnormality of the ocular adnexa", "abnormality of the ocular adnexa" ], "alt_id": [], "def": "An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.", "synonym": [], "xref": [], "is_a": [ "HP:0000315" ], "is_obsolete": "", "replace_id": "" }, "HP:0032040": { "name": [ "abnormal ocular adnexa physiology", "abnormal ocular adnexa physiology" ], "alt_id": [], "def": "A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.", "synonym": [], "xref": [], "is_a": [ "HP:0032039" ], "is_obsolete": "", "replace_id": "" }, "HP:0032041": { "name": [ "vocal cord polyp", "vocal cord polyp" ], "alt_id": [], "def": "A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color.", "synonym": [], "xref": [], "is_a": [ "HP:0008777" ], "is_obsolete": "", "replace_id": "" }, "HP:0032043": { "name": [ "odynophagia", "odynophagia" ], "alt_id": [], "def": "Pain experienced with swallowing.", "synonym": [ [ "painful swallowing", "painful swallowing" ] ], "xref": [], "is_a": [ "HP:0012719" ], "is_obsolete": "", "replace_id": "" }, "HP:0032044": { "name": [ "decreased vigilance", "decrease vigilance" ], "alt_id": [], "def": "A reduction in the ability to maintain sustained attention characterized by reduced alertness.", "synonym": [], "xref": [], "is_a": [ "HP:0004372" ], "is_obsolete": "", "replace_id": "" }, "HP:0032045": { "name": [ "hypoplastic carotid canal", "hypoplastic carotid canal" ], "alt_id": [], "def": "Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.", "synonym": [], "xref": [], "is_a": [ "HP:0009911" ], "is_obsolete": "", "replace_id": "" }, "HP:0032046": { "name": [ "focal cortical dysplasia", "focal cortical dysplasia" ], "alt_id": [], "def": "A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.", "synonym": [], "xref": [], "is_a": [ "HP:0002539" ], "is_obsolete": "", "replace_id": "" }, "HP:0032047": { "name": [ "focal cortical dysplasia type i", "focal cortical dysplasia type i" ], "alt_id": [], "def": "A type of focal cortical dysplasia that is characterized by abnormal cortical layering.", "synonym": [], "xref": [], "is_a": [ "HP:0032046" ], "is_obsolete": "", "replace_id": "" }, "HP:0032048": { "name": [ "focal cortical dysplasia type ia", "focal cortical dysplasia type ia" ], "alt_id": [], "def": "A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination.", "synonym": [], "xref": [], "is_a": [ "HP:0032047" ], "is_obsolete": "", "replace_id": "" }, "HP:0032049": { "name": [ "focal cortical dysplasia type ib", "focal cortical dysplasia type ib" ], "alt_id": [], "def": "A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination.", "synonym": [], "xref": [], "is_a": [ "HP:0032047" ], "is_obsolete": "", "replace_id": "" }, "HP:0032050": { "name": [ "focal cortical dysplasia type ic", "focal cortical dysplasia type ic" ], "alt_id": [], "def": "A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination.", "synonym": [], "xref": [], "is_a": [ "HP:0032049" ], "is_obsolete": "", "replace_id": "" }, "HP:0032051": { "name": [ "focal cortical dysplasia type ii", "focal cortical dysplasia type ii" ], "alt_id": [], "def": "A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.", "synonym": [], "xref": [], "is_a": [ "HP:0032046" ], "is_obsolete": "", "replace_id": "" }, "HP:0032052": { "name": [ "focal cortical dysplasia type iia", "focal cortical dysplasia type iia" ], "alt_id": [], "def": "A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.", "synonym": [], "xref": [], "is_a": [ "HP:0032051" ], "is_obsolete": "", "replace_id": "" }, "HP:0032053": { "name": [ "focal cortical dysplasia type iib", "focal cortical dysplasia type iib" ], "alt_id": [], "def": "A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells.", "synonym": [], "xref": [], "is_a": [ "HP:0032051" ], "is_obsolete": "", "replace_id": "" }, "HP:0032054": { "name": [ "focal cortical dysplasia type iii", "focal cortical dysplasia type iii" ], "alt_id": [], "def": "A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe.", "synonym": [], "xref": [], "is_a": [ "HP:0032046" ], "is_obsolete": "", "replace_id": "" }, "HP:0032055": { "name": [ "focal cortical dysplasia type iiia", "focal cortical dysplasia type iiia" ], "alt_id": [], "def": "A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis).", "synonym": [], "xref": [], "is_a": [ "HP:0032054" ], "is_obsolete": "", "replace_id": "" }, "HP:0032056": { "name": [ "focal cortical dysplasia type iiib", "focal cortical dysplasia type iiib" ], "alt_id": [], "def": "A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor.", "synonym": [], "xref": [], "is_a": [ "HP:0032054" ], "is_obsolete": "", "replace_id": "" }, "HP:0032057": { "name": [ "focal cortical dysplasia type iiic", "focal cortical dysplasia type iiic" ], "alt_id": [], "def": "A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis).", "synonym": [], "xref": [], "is_a": [ "HP:0032054" ], "is_obsolete": "", "replace_id": "" }, "HP:0032058": { "name": [ "focal cortical dysplasia type iiid", "focal cortical dysplasia type iiid" ], "alt_id": [], "def": "A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections.", "synonym": [], "xref": [], "is_a": [ "HP:0032054" ], "is_obsolete": "", "replace_id": "" }, "HP:0032059": { "name": [ "mild malformation of cortical development", "mild malformation of cortical development" ], "alt_id": [], "def": "A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter.", "synonym": [], "xref": [], "is_a": [ "HP:0002539" ], "is_obsolete": "", "replace_id": "" }, "HP:0032060": { "name": [ "epithelioid hemangioma", "epithelioid hemangioma" ], "alt_id": [], "def": "A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area.", "synonym": [ [ "angiolymphoid hyperplasia with eosinophilia", "angiolymphoid hyperplasia with eosinophilia" ] ], "xref": [], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0032061": { "name": [ "hypereosinophilia", "hypereosinophilia" ], "alt_id": [], "def": "A severely increased count of eosinophils in the blood defined as a blood eosinophil count of 1.5 \u00d7 10e9/L or greater (one and a half billion cells per liter).", "synonym": [], "xref": [], "is_a": [ "HP:0001880" ], "is_obsolete": "", "replace_id": "" }, "HP:0032062": { "name": [ "mallory - weiss tear", "mallory - wei tear" ], "alt_id": [], "def": "Vomiting-induced mucosal laceration at the esophago-gastric junction.", "synonym": [], "xref": [], "is_a": [ "HP:0002031" ], "is_obsolete": "", "replace_id": "" }, "HP:0032063": { "name": [ "ankle joint effusion", "ankle joint effusion" ], "alt_id": [], "def": "Abnormal accumulation of fluid in or around the ankle joint.", "synonym": [], "xref": [], "is_a": [ "HP:0003028" ], "is_obsolete": "", "replace_id": "" }, "HP:0032064": { "name": [ "gastrointestinal eosinophilia", "gastrointestinal eosinophilia" ], "alt_id": [], "def": "Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them.", "synonym": [ [ "eosinophilic enteritis", "eosinophilic enteritis" ], [ "eosinophilic gastroenteritis", "eosinophilic gastroenteritis" ], [ "eosinophilic gastrointestinal disease", "eosinophilic gastrointestinal disease" ], [ "eosinophilic gastrointestinal disorders", "eosinophilic gastrointestinal disorder" ], [ "gi eosinophilia", "gi eosinophilia" ] ], "xref": [], "is_a": [ "HP:0012718" ], "is_obsolete": "", "replace_id": "" }, "HP:0032065": { "name": [ "abnormal serum bicarbonate concentration", "abnormal serum bicarbonate concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation.", "synonym": [ [ "abnormal serum hco3 concentration", "abnormal serum hco3 concentration" ] ], "xref": [], "is_a": [ "HP:0004360" ], "is_obsolete": "", "replace_id": "" }, "HP:0032066": { "name": [ "decreased serum bicarbonate concentration", "decrease serum bicarbonate concentration" ], "alt_id": [], "def": "An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation.", "synonym": [ [ "decreased serum hco3 concentration", "decrease serum hco3 concentration" ] ], "xref": [], "is_a": [ "HP:0032065" ], "is_obsolete": "", "replace_id": "" }, "HP:0032067": { "name": [ "elevated serum bicarbonate concentration", "elevate serum bicarbonate concentration" ], "alt_id": [], "def": "An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation.", "synonym": [ [ "elevated serum hco3 concentration", "elevate serum hco3 concentration" ] ], "xref": [], "is_a": [ "HP:0032065" ], "is_obsolete": "", "replace_id": "" }, "HP:0032068": { "name": [ "increased urinary mucus", "increase urinary mucus" ], "alt_id": [], "def": "An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis.", "synonym": [], "xref": [], "is_a": [ "HP:0033072" ], "is_obsolete": "", "replace_id": "" }, "HP:0032069": { "name": [ "anti - thyroglobulin antibody positivity", "anti - thyroglobulin antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0032070": { "name": [ "leptomeningeal enhancement", "leptomeningeal enhancement" ], "alt_id": [], "def": "Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis.", "synonym": [], "xref": [], "is_a": [ "HP:0010651" ], "is_obsolete": "", "replace_id": "" }, "HP:0032071": { "name": [ "eosinophilic pneumonia", "eosinophilic pneumonia" ], "alt_id": [], "def": "The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia.", "synonym": [ [ "eosinophilic pulmonary infiltration", "eosinophilic pulmonary infiltration" ], [ "pulmonary eosinophilia", "pulmonary eosinophilia" ], [ "pulmonary eosinophilic infiltrate", "pulmonary eosinophilic infiltrate" ], [ "pulmonary eosinophilic infiltration", "pulmonary eosinophilic infiltration" ] ], "xref": [], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0032072": { "name": [ "popliteal synovial cyst", "popliteal synovial cyst" ], "alt_id": [], "def": "A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle.", "synonym": [ [ "baker 's cyst", "baker 's cyst" ] ], "xref": [], "is_a": [ "HP:0002815" ], "is_obsolete": "", "replace_id": "" }, "HP:0032073": { "name": [ "aplasia of the fallopian tube", "aplasia of the fallopian tube" ], "alt_id": [], "def": "Aplasia, that is failure to develop, of the fallopian tube.", "synonym": [], "xref": [], "is_a": [ "HP:0008655" ], "is_obsolete": "", "replace_id": "" }, "HP:0032075": { "name": [ "splenopancreatic fusion", "splenopancreatic fusion" ], "alt_id": [], "def": "Fusion of the pancreatic tail and spleen.", "synonym": [], "xref": [], "is_a": [ "HP:0012090", "HP:0025408" ], "is_obsolete": "", "replace_id": "" }, "HP:0032076": { "name": [ "abnormal male urethral meatus morphology", "abnormal male urethral meatus morphology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0000036" ], "is_obsolete": "", "replace_id": "" }, "HP:0032077": { "name": [ "male urethral meatus stenosis", "male urethral meatus stenosis" ], "alt_id": [], "def": "An abnormal narrowing of the urethral opening (meatus) of the penis.", "synonym": [ [ "meatal stenosis", "meatal stenosis" ], [ "meatus stenosis", "meatus stenosis" ] ], "xref": [], "is_a": [ "HP:0032076" ], "is_obsolete": "", "replace_id": "" }, "HP:0032078": { "name": [ "angel - shaped phalanx", "angel - shape phalanx" ], "alt_id": [], "def": "A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head).", "synonym": [], "xref": [], "is_a": [ "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0032079": { "name": [ "medial degeneration", "medial degeneration" ], "alt_id": [], "def": "Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections.", "synonym": [], "xref": [], "is_a": [ "HP:0001679" ], "is_obsolete": "", "replace_id": "" }, "HP:0032081": { "name": [ "intralamellar mucoid extracellular matrix accumulation", "intralamellar mucoid extracellular matrix accumulation" ], "alt_id": [], "def": "A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units.", "synonym": [], "xref": [], "is_a": [ "HP:0200146" ], "is_obsolete": "", "replace_id": "" }, "HP:0032082": { "name": [ "translamellar mucoid extracellular matrix accumulation", "translamellar mucoid extracellular matrix accumulation" ], "alt_id": [], "def": "A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees.", "synonym": [], "xref": [], "is_a": [ "HP:0200146" ], "is_obsolete": "", "replace_id": "" }, "HP:0032083": { "name": [ "aortic elastic fiber fragmentation", "aortic elastic fiber fragmentation" ], "alt_id": [], "def": "Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers.", "synonym": [ [ "aortic elastic fibre fragmentation", "aortic elastic fibre fragmentation" ] ], "xref": [], "is_a": [ "HP:0032079" ], "is_obsolete": "", "replace_id": "" }, "HP:0032084": { "name": [ "aortic elastic fiber thinning", "aortic elastic fiber thinning" ], "alt_id": [], "def": "A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers.", "synonym": [ [ "aortic elastic fibre thinning", "aortic elastic fibre thin" ] ], "xref": [], "is_a": [ "HP:0032079" ], "is_obsolete": "", "replace_id": "" }, "HP:0032085": { "name": [ "aortic elastic fiber disorganization", "aortic elastic fiber disorganization" ], "alt_id": [], "def": "Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers.", "synonym": [ [ "aortic elastic fibre disorganisation", "aortic elastic fibre disorganisation" ] ], "xref": [], "is_a": [ "HP:0032079" ], "is_obsolete": "", "replace_id": "" }, "HP:0032086": { "name": [ "aortic smooth muscle cell nuclei loss", "aortic smooth muscle cell nuclei loss" ], "alt_id": [], "def": "A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain.", "synonym": [], "xref": [], "is_a": [ "HP:0032079" ], "is_obsolete": "", "replace_id": "" }, "HP:0032087": { "name": [ "aortic laminar medial collapse", "aortic laminar medial collapse" ], "alt_id": [], "def": "Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers.", "synonym": [], "xref": [], "is_a": [ "HP:0032079" ], "is_obsolete": "", "replace_id": "" }, "HP:0032088": { "name": [ "aortic smooth muscle cell disorganization", "aortic smooth muscle cell disorganization" ], "alt_id": [], "def": "Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells.", "synonym": [ [ "aortic smooth muscle cell disorganisation", "aortic smooth muscle cell disorganisation" ] ], "xref": [], "is_a": [ "HP:0032079" ], "is_obsolete": "", "replace_id": "" }, "HP:0032089": { "name": [ "aortic medial fibrosis", "aortic medial fibrosis" ], "alt_id": [], "def": "An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units).", "synonym": [], "xref": [], "is_a": [ "HP:0032079" ], "is_obsolete": "", "replace_id": "" }, "HP:0032090": { "name": [ "intralamellar aortic medial fibrosis", "intralamellar aortic medial fibrosis" ], "alt_id": [], "def": "A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units.", "synonym": [], "xref": [], "is_a": [ "HP:0032089" ], "is_obsolete": "", "replace_id": "" }, "HP:0032091": { "name": [ "translamellar aortic medial fibrosis", "translamellar aortic medial fibrosis" ], "alt_id": [], "def": "A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units.", "synonym": [], "xref": [], "is_a": [ "HP:0032089" ], "is_obsolete": "", "replace_id": "" }, "HP:0032092": { "name": [ "left ventricular outflow tract obstruction", "leave ventricular outflow tract obstruction" ], "alt_id": [], "def": "Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.", "synonym": [], "xref": [], "is_a": [ "HP:0005162" ], "is_obsolete": "", "replace_id": "" }, "HP:0032094": { "name": [ "increased circulating surfactant protein level", "increase circulate surfactant protein level" ], "alt_id": [], "def": "An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis.", "synonym": [ [ "increased serum surfactant protein level", "increase serum surfactant protein level" ] ], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0032096": { "name": [ "abnormal manganese concentration", "abnormal manganese concentration" ], "alt_id": [], "def": "A deviation from the normal range of manganese in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010927" ], "is_obsolete": "", "replace_id": "" }, "HP:0032097": { "name": [ "hypermanganesemia", "hypermanganesemia" ], "alt_id": [], "def": "An elevation above the normal concentration of manganese in the blood.", "synonym": [ [ "increased blood manganese concentration", "increase blood manganese concentration" ] ], "xref": [], "is_a": [ "HP:0032096" ], "is_obsolete": "", "replace_id": "" }, "HP:0032098": { "name": [ "hypomanganesemia", "hypomanganesemia" ], "alt_id": [], "def": "A reduction below the normal concentration of manganese in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0032096" ], "is_obsolete": "", "replace_id": "" }, "HP:0032099": { "name": [ "perioral radial furrowing", "perioral radial furrowing" ], "alt_id": [], "def": "The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976).", "synonym": [], "xref": [], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0032100": { "name": [ "abnormal doll 's eye reflex", "abnormal doll 's eye reflex" ], "alt_id": [], "def": "The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage.", "synonym": [], "xref": [], "is_a": [ "HP:0007670" ], "is_obsolete": "", "replace_id": "" }, "HP:0032101": { "name": [ "unusual infection", "unusual infection" ], "alt_id": [], "def": "A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.", "synonym": [], "xref": [], "is_a": [ "HP:0010978" ], "is_obsolete": "", "replace_id": "" }, "HP:0032102": { "name": [ "wilson sign", "wilson sign" ], "alt_id": [], "def": "Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia.", "synonym": [], "xref": [], "is_a": [ "HP:0030839" ], "is_obsolete": "", "replace_id": "" }, "HP:0032104": { "name": [ "saccadic oscillation", "saccadic oscillation" ], "alt_id": [], "def": "An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.", "synonym": [ [ "saccadic oscillations", "saccadic oscillation" ] ], "xref": [], "is_a": [ "HP:0000570" ], "is_obsolete": "", "replace_id": "" }, "HP:0032105": { "name": [ "macrosaccadic oscillations", "macrosaccadic oscillation" ], "alt_id": [ "HP:0032117" ], "def": "A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern.", "synonym": [ [ "macrosaccadic oscillation", "macrosaccadic oscillation" ] ], "xref": [], "is_a": [ "HP:0032104" ], "is_obsolete": "", "replace_id": "" }, "HP:0032106": { "name": [ "conjunctival icterus", "conjunctival icterus" ], "alt_id": [], "def": "Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease.", "synonym": [ [ "scleral icterus", "scleral icterus" ], [ "yellow conjunctiva", "yellow conjunctiva" ], [ "yellow sclera", "yellow sclera" ], [ "yellowing of the whites of the eyes", "yellowing of the white of the eye" ] ], "xref": [], "is_a": [ "HP:0000502" ], "is_obsolete": "", "replace_id": "" }, "HP:0032107": { "name": [ "limbal stem cell deficiency", "limbal stem cell deficiency" ], "alt_id": [], "def": "A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.", "synonym": [], "xref": [], "is_a": [ "HP:0004328" ], "is_obsolete": "", "replace_id": "" }, "HP:0032108": { "name": [ "mildly reduced contrast sensitivity", "mildly reduce contrast sensitivity" ], "alt_id": [], "def": "A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss.", "synonym": [ [ "mild reduction in contrast sensitivity", "mild reduction in contrast sensitivity" ] ], "xref": [], "is_a": [ "HP:0032036" ], "is_obsolete": "", "replace_id": "" }, "HP:0032109": { "name": [ "moderately reduced contrast sensitivity", "moderately reduce contrast sensitivity" ], "alt_id": [], "def": "A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss.", "synonym": [ [ "moderate reduction in contrast sensitivity", "moderate reduction in contrast sensitivity" ] ], "xref": [], "is_a": [ "HP:0032036" ], "is_obsolete": "", "replace_id": "" }, "HP:0032110": { "name": [ "severely reduced contrast sensitivity", "severely reduce contrast sensitivity" ], "alt_id": [], "def": "A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss.", "synonym": [], "xref": [], "is_a": [ "HP:0032036" ], "is_obsolete": "", "replace_id": "" }, "HP:0032111": { "name": [ "abnormal vistech contrast sensitivity test", "abnormal vistech contrast sensitivity test" ], "alt_id": [], "def": "An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test.", "synonym": [], "xref": [], "is_a": [ "HP:0032036" ], "is_obsolete": "", "replace_id": "" }, "HP:0032112": { "name": [ "abnormal pelli robson contrast sensitivity chart test", "abnormal pelli robson contrast sensitivity chart test" ], "alt_id": [], "def": "An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast.", "synonym": [], "xref": [], "is_a": [ "HP:0032036" ], "is_obsolete": "", "replace_id": "" }, "HP:0032113": { "name": [ "semidominant mode of inheritance", "semidominant mode of inheritance" ], "alt_id": [], "def": "A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in the heterozygotes and homozygotes, with differing phenotype severity present dependent on the number of alleles affected.", "synonym": [], "xref": [], "is_a": [ "HP:0000005" ], "is_obsolete": "", "replace_id": "" }, "HP:0032114": { "name": [ "saccadic intrusion", "saccadic intrusion" ], "alt_id": [], "def": "An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade.", "synonym": [], "xref": [], "is_a": [ "HP:0000570" ], "is_obsolete": "", "replace_id": "" }, "HP:0032116": { "name": [ "macrosquare - wave jerks", "macrosquare - wave jerk" ], "alt_id": [], "def": "Horizontal 10-40 degree excursions from fixation and back again.", "synonym": [], "xref": [], "is_a": [ "HP:0032114" ], "is_obsolete": "", "replace_id": "" }, "HP:0032117": { "name": [ "obsolete macrosaccadic oscillation", "obsolete macrosaccadic oscillation" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0032105" }, "HP:0032118": { "name": [ "retinitis", "retinitis" ], "alt_id": [], "def": "Inflammation of the retina of the eye.", "synonym": [], "xref": [], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0032119": { "name": [ "narrow angle glaucoma", "narrow angle glaucoma" ], "alt_id": [], "def": "A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle.", "synonym": [], "xref": [], "is_a": [ "HP:0000501" ], "is_obsolete": "", "replace_id": "" }, "HP:0032120": { "name": [ "abnormal peripheral nervous system physiology", "abnormal peripheral nervous system physiology" ], "alt_id": [], "def": "Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.", "synonym": [], "xref": [], "is_a": [ "HP:0410008" ], "is_obsolete": "", "replace_id": "" }, "HP:0032121": { "name": [ "froment sign", "froment sign" ], "alt_id": [], "def": "An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint.", "synonym": [ [ "froment thumb sign", "froment thumb sign" ] ], "xref": [], "is_a": [ "HP:0032120" ], "is_obsolete": "", "replace_id": "" }, "HP:0032122": { "name": [ "very low visual acuity", "very low visual acuity" ], "alt_id": [], "def": "A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590).", "synonym": [], "xref": [], "is_a": [ "HP:0007663" ], "is_obsolete": "", "replace_id": "" }, "HP:0032123": { "name": [ "ultra - low vision", "ultra - low vision" ], "alt_id": [], "def": "Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).", "synonym": [], "xref": [], "is_a": [ "HP:0007663" ], "is_obsolete": "", "replace_id": "" }, "HP:0032124": { "name": [ "abnormal proportion of unswitched memory b cells", "abnormal proportion of unswitched memory b cell" ], "alt_id": [], "def": "A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells.", "synonym": [ [ "abnormal proportion of non - class - switched memory b cells", "abnormal proportion of non - class - switched memory b cell" ] ], "xref": [], "is_a": [ "HP:0030373" ], "is_obsolete": "", "replace_id": "" }, "HP:0032125": { "name": [ "increased proportion of unswitched memory b cells", "increase proportion of unswitched memory b cell" ], "alt_id": [], "def": "An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells.", "synonym": [ [ "elevated proportion of unswitched memory b cells", "elevate proportion of unswitched memory b cell" ], [ "increased proportion of non - class - switched memory b cells", "increase proportion of non - class - switched memory b cell" ] ], "xref": [], "is_a": [ "HP:0032124" ], "is_obsolete": "", "replace_id": "" }, "HP:0032126": { "name": [ "decreased proportion of unswitched memory b cells", "decreased proportion of unswitched memory b cell" ], "alt_id": [], "def": "A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells.", "synonym": [ [ "decreased proportion of non - class - switched memory b cells", "decreased proportion of non - class - switched memory b cell" ], [ "reduced proportion of unswitched memory b cells", "reduce proportion of unswitched memory b cell" ] ], "xref": [], "is_a": [ "HP:0030374", "HP:0032124" ], "is_obsolete": "", "replace_id": "" }, "HP:0032127": { "name": [ "abnormal plasmablast proportion", "abnormal plasmablast proportion" ], "alt_id": [], "def": "A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination.", "synonym": [], "xref": [], "is_a": [ "HP:0025539" ], "is_obsolete": "", "replace_id": "" }, "HP:0032128": { "name": [ "increased proportion of plasmablasts", "increase proportion of plasmablast" ], "alt_id": [], "def": "An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells.", "synonym": [], "xref": [], "is_a": [ "HP:0032127" ], "is_obsolete": "", "replace_id": "" }, "HP:0032129": { "name": [ "decreased proportion of plasmablasts", "decreased proportion of plasmablast" ], "alt_id": [], "def": "A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells.", "synonym": [], "xref": [], "is_a": [ "HP:0032127" ], "is_obsolete": "", "replace_id": "" }, "HP:0032130": { "name": [ "mycobacterium abscessus abscessus infection", "mycobacterium abscessus abscessus infection" ], "alt_id": [], "def": "Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections.", "synonym": [], "xref": [], "is_a": [ "HP:0032260" ], "is_obsolete": "", "replace_id": "" }, "HP:0032131": { "name": [ "cervical dysplasia", "cervical dysplasia" ], "alt_id": [], "def": "Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium.", "synonym": [], "xref": [], "is_a": [ "HP:0012888" ], "is_obsolete": "", "replace_id": "" }, "HP:0032132": { "name": [ "decreased circulating total igg", "decrease circulate total igg" ], "alt_id": [], "def": "A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0004315" ], "is_obsolete": "", "replace_id": "" }, "HP:0032133": { "name": [ "transient decreased circulating total igg", "transient decrease circulate total igg" ], "alt_id": [], "def": "A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0032132" ], "is_obsolete": "", "replace_id": "" }, "HP:0032134": { "name": [ "chronic decreased circulating total igg", "chronic decrease circulate total igg" ], "alt_id": [], "def": "A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.", "synonym": [ [ "chronic decreased total igg in blood", "chronic decrease total igg in blood" ] ], "xref": [], "is_a": [ "HP:0032132" ], "is_obsolete": "", "replace_id": "" }, "HP:0032135": { "name": [ "decreased circulating igg subclass level", "decrease circulate igg subclass level" ], "alt_id": [], "def": "A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood.", "synonym": [ [ "decreased igg subclass level in blood", "decrease igg subclass level in blood" ] ], "xref": [], "is_a": [ "HP:0004315" ], "is_obsolete": "", "replace_id": "" }, "HP:0032136": { "name": [ "decreased circulating igg1 level", "decrease circulate igg1 level" ], "alt_id": [], "def": "A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation.", "synonym": [ [ "decreased igg1 level in blood", "decrease igg1 level in blood" ] ], "xref": [], "is_a": [ "HP:0032135" ], "is_obsolete": "", "replace_id": "" }, "HP:0032137": { "name": [ "decreased circulating igg3 level", "decrease circulate igg3 level" ], "alt_id": [], "def": "A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation.", "synonym": [ [ "decreased igg3 level in blood", "decrease igg3 level in blood" ] ], "xref": [], "is_a": [ "HP:0032135" ], "is_obsolete": "", "replace_id": "" }, "HP:0032138": { "name": [ "decreased circulating igg4 level", "decrease circulate igg4 level" ], "alt_id": [], "def": "A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.", "synonym": [ [ "decreased igg4 level in blood", "decrease igg4 level in blood" ] ], "xref": [], "is_a": [ "HP:0032135" ], "is_obsolete": "", "replace_id": "" }, "HP:0032139": { "name": [ "reduced isohemagglutinin level", "reduce isohemagglutinin level" ], "alt_id": [], "def": "Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).", "synonym": [ [ "decreased natural antibody to blood group agents", "decreased natural antibody to blood group agent" ], [ "partial absence of isohemagglutinins", "partial absence of isohemagglutinins" ] ], "xref": [], "is_a": [ "HP:0410292" ], "is_obsolete": "", "replace_id": "" }, "HP:0032140": { "name": [ "decreased specific antibody response to vaccination", "decrease specific antibody response to vaccination" ], "alt_id": [], "def": "A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination.", "synonym": [], "xref": [], "is_a": [ "HP:0012475" ], "is_obsolete": "", "replace_id": "" }, "HP:0032141": { "name": [ "precordial pain", "precordial pain" ], "alt_id": [], "def": "A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck.", "synonym": [], "xref": [], "is_a": [ "HP:0100749" ], "is_obsolete": "", "replace_id": "" }, "HP:0032142": { "name": [ "fetor hepaticus", "fetor hepaticus" ], "alt_id": [], "def": "Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic.", "synonym": [ [ "foetor hepaticus", "foetor hepaticus" ] ], "xref": [], "is_a": [ "HP:0100812" ], "is_obsolete": "", "replace_id": "" }, "HP:0032143": { "name": [ "burning mouth", "burn mouth" ], "alt_id": [], "def": "An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa.", "synonym": [], "xref": [], "is_a": [ "HP:0031815" ], "is_obsolete": "", "replace_id": "" }, "HP:0032144": { "name": [ "coffee ground vomitus", "coffee ground vomitus" ], "alt_id": [], "def": "Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit.", "synonym": [ [ "coffee grounds emesis", "coffee ground emesis" ], [ "coffee grounds vomiting", "coffee ground vomit" ] ], "xref": [], "is_a": [ "HP:0002239" ], "is_obsolete": "", "replace_id": "" }, "HP:0032145": { "name": [ "sural nerve atrophy", "sural nerve atrophy" ], "alt_id": [], "def": "Wasting of the sural nerve, a sensory nerve in the calf region of the leg.", "synonym": [ [ "atrophy of sural nerve", "atrophy of sural nerve" ] ], "xref": [], "is_a": [ "HP:0045010" ], "is_obsolete": "", "replace_id": "" }, "HP:0032146": { "name": [ "hbc hemoglobin", "hbc hemoglobin" ], "alt_id": [], "def": "Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis.", "synonym": [ [ "haemoglobin c", "haemoglobin c" ], [ "hbc haemoglobin", "hbc haemoglobin" ], [ "hemoglobin c", "hemoglobin c" ] ], "xref": [], "is_a": [ "HP:0011902" ], "is_obsolete": "", "replace_id": "" }, "HP:0032147": { "name": [ "erythromelalgia", "erythromelalgia" ], "alt_id": [], "def": "Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet.", "synonym": [], "xref": [], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0032148": { "name": [ "episodic pain", "episodic pain" ], "alt_id": [], "def": "Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.", "synonym": [], "xref": [], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0032149": { "name": [ "breakthrough pain", "breakthrough pain" ], "alt_id": [], "def": "A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain.", "synonym": [], "xref": [], "is_a": [ "HP:0032148" ], "is_obsolete": "", "replace_id": "" }, "HP:0032150": { "name": [ "paroxysmal rectal pain", "paroxysmal rectal pain" ], "alt_id": [], "def": "Excruciating burning pain in the rectal area that may be triggered by defecation.", "synonym": [], "xref": [], "is_a": [ "HP:0032148", "HP:0500005" ], "is_obsolete": "", "replace_id": "" }, "HP:0032151": { "name": [ "episodic eosinophilia", "episodic eosinophilia" ], "alt_id": [], "def": "Recurrent episodes of marked eosinophilia that resolve spontaneously.", "synonym": [], "xref": [], "is_a": [ "HP:0001880" ], "is_obsolete": "", "replace_id": "" }, "HP:0032152": { "name": [ "keratosis pilaris", "keratosis pilaris" ], "alt_id": [ "HP:0040180" ], "def": "An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.", "synonym": [ [ "carpet tack sign", "carpet tack sign" ], [ "chicken skin", "chicken skin" ], [ "follicular keratosis", "follicular keratosis" ], [ "follicular keratotic plug", "follicular keratotic plug" ], [ "follicular plugging", "follicular plugging" ], [ "hyperkeratosis pilaris", "hyperkeratosis pilaris" ], [ "lichen pilaris", "lichen pilaris" ] ], "xref": [], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0032153": { "name": [ "joint subluxation", "joint subluxation" ], "alt_id": [], "def": "A partial dislocation of a joint.", "synonym": [], "xref": [], "is_a": [ "HP:0001367" ], "is_obsolete": "", "replace_id": "" }, "HP:0032154": { "name": [ "aphthous ulcer", "aphthous ulcer" ], "alt_id": [], "def": "Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.", "synonym": [ [ "canker sore", "canker sore" ] ], "xref": [], "is_a": [ "HP:0011830" ], "is_obsolete": "", "replace_id": "" }, "HP:0032155": { "name": [ "abdominal cramps", "abdominal cramp" ], "alt_id": [], "def": "A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.", "synonym": [], "xref": [], "is_a": [ "HP:0002027" ], "is_obsolete": "", "replace_id": "" }, "HP:0032156": { "name": [ "skin detachment", "skin detachment" ], "alt_id": [], "def": "Loss of sections of skin either spontaneously or after gentle handling.", "synonym": [ [ "detached skin", "detach skin" ], [ "epidermal detachment", "epidermal detachment" ], [ "skin sloughing", "skin sloughing" ] ], "xref": [], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0032157": { "name": [ "recurrent genital herpes", "recurrent genital herpes" ], "alt_id": [], "def": "Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks.", "synonym": [], "xref": [], "is_a": [ "HP:0005353" ], "is_obsolete": "", "replace_id": "" }, "HP:0032158": { "name": [ "unusual infection by anatomical site", "unusual infection by anatomical site" ], "alt_id": [], "def": "An unusual infection classified by the affected body part.", "synonym": [], "xref": [], "is_a": [ "HP:0032101" ], "is_obsolete": "", "replace_id": "" }, "HP:0032159": { "name": [ "fungal meningitis", "fungal meningitis" ], "alt_id": [], "def": "An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis.", "synonym": [], "xref": [], "is_a": [ "HP:0001287" ], "is_obsolete": "", "replace_id": "" }, "HP:0032160": { "name": [ "cryptococcal meningitis", "cryptococcal meningitis" ], "alt_id": [], "def": "A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis.", "synonym": [], "xref": [], "is_a": [ "HP:0032159" ], "is_obsolete": "", "replace_id": "" }, "HP:0032161": { "name": [ "coccidioidal meningitis", "coccidioidal meningitis" ], "alt_id": [], "def": "A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges.", "synonym": [], "xref": [], "is_a": [ "HP:0032159" ], "is_obsolete": "", "replace_id": "" }, "HP:0032162": { "name": [ "unusual skin infection", "unusual skin infection" ], "alt_id": [], "def": "A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.", "synonym": [], "xref": [], "is_a": [ "HP:0011122", "HP:0032158" ], "is_obsolete": "", "replace_id": "" }, "HP:0032163": { "name": [ "molluscum contagiosum", "molluscum contagiosum" ], "alt_id": [], "def": "Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state.", "synonym": [], "xref": [], "is_a": [ "HP:0032162" ], "is_obsolete": "", "replace_id": "" }, "HP:0032164": { "name": [ "increased blood folate concentration", "increase blood folate concentration" ], "alt_id": [], "def": "An elevated circulating concentration of folic acid, which is also known as vitamin B9.", "synonym": [], "xref": [], "is_a": [ "HP:0040087" ], "is_obsolete": "", "replace_id": "" }, "HP:0032165": { "name": [ "placental mesenchymal dysplasia", "placental mesenchymal dysplasia" ], "alt_id": [], "def": "Placental mesenchymal dysplasia is an abnormality of the stem villi of the placenta that may be mistaken for a hydatidiform mole, and in particular, partial mole, owing to the mixture of cysts and normal-appearing parenchyma. The stem (anchoring) villi form as outgrowths of the chorionic plate early in placentogenesis and give rise to the branching villous trees.", "synonym": [], "xref": [], "is_a": [ "HP:0100767" ], "is_obsolete": "", "replace_id": "" }, "HP:0032166": { "name": [ "unusual gastrointestinal infection", "unusual gastrointestinal infection" ], "alt_id": [], "def": "", "synonym": [ [ "unusual gi infection", "unusual gi infection" ] ], "xref": [], "is_a": [ "HP:0012719" ], "is_obsolete": "", "replace_id": "" }, "HP:0032167": { "name": [ "clostridium difficile enteritis", "clostridium difficile enteritis" ], "alt_id": [], "def": "An infection of the small intestine (enteritis) by clostridium difficile.", "synonym": [ [ "c. difficile enteritis", "c. difficile enteritis" ] ], "xref": [], "is_a": [ "HP:0032166" ], "is_obsolete": "", "replace_id": "" }, "HP:0032168": { "name": [ "clostridium difficile colitis", "clostridium difficile colitis" ], "alt_id": [], "def": "An infection of the colon (colitis) by clostridium difficile.", "synonym": [], "xref": [], "is_a": [ "HP:0032166" ], "is_obsolete": "", "replace_id": "" }, "HP:0032169": { "name": [ "severe infection", "severe infection" ], "alt_id": [], "def": "A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.", "synonym": [ [ "unusual course of infection", "unusual course of infection" ] ], "xref": [], "is_a": [ "HP:0032101" ], "is_obsolete": "", "replace_id": "" }, "HP:0032170": { "name": [ "severe varicella zoster infection", "severe varicella zoster infection" ], "alt_id": [], "def": "An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.", "synonym": [], "xref": [], "is_a": [ "HP:0031691" ], "is_obsolete": "", "replace_id": "" }, "HP:0032171": { "name": [ "bladder pain", "bladder pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case.", "synonym": [], "xref": [], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0032172": { "name": [ "air crescent sign", "air crescent sign" ], "alt_id": [], "def": "A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan.", "synonym": [], "xref": [], "is_a": [ "HP:0033775" ], "is_obsolete": "", "replace_id": "" }, "HP:0032173": { "name": [ "continuous diaphragm sign", "continuous diaphragm sign" ], "alt_id": [], "def": "This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign.", "synonym": [], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0032174": { "name": [ "tree - in - bud pattern", "tree - in - bud pattern" ], "alt_id": [], "def": "The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376).", "synonym": [], "xref": [], "is_a": [ "HP:0033775" ], "is_obsolete": "", "replace_id": "" }, "HP:0032175": { "name": [ "signet ring sign", "signet ring sign" ], "alt_id": [], "def": "This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging.", "synonym": [], "xref": [], "is_a": [ "HP:0033775" ], "is_obsolete": "", "replace_id": "" }, "HP:0032176": { "name": [ "apical pulmonary opacity", "apical pulmonary opacity" ], "alt_id": [], "def": "An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space.", "synonym": [ [ "apical cap", "apical cap" ], [ "apical pleural thickening", "apical pleural thickening" ] ], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0032177": { "name": [ "parenchymal consolidation", "parenchymal consolidation" ], "alt_id": [], "def": "Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).", "synonym": [], "xref": [], "is_a": [ "HP:0031457" ], "is_obsolete": "", "replace_id": "" }, "HP:0032178": { "name": [ "flaky paint dermatosis", "flaky paint dermatosis" ], "alt_id": [], "def": "A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001).", "synonym": [ [ "flaky paint skin appearance", "flaky paint skin appearance" ] ], "xref": [], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0032179": { "name": [ "abnormal circulating globulin level", "abnormal circulate globulin level" ], "alt_id": [], "def": "An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0032180": { "name": [ "abnormal circulating metabolite concentration", "abnormal circulate metabolite concentration" ], "alt_id": [], "def": "An abnormal level of an analyte measured in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0001939" ], "is_obsolete": "", "replace_id": "" }, "HP:0032181": { "name": [ "anomalous hepatic venous drainage into the left atrium", "anomalous hepatic venous drainage into the left atrium" ], "alt_id": [], "def": "An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium.", "synonym": [], "xref": [], "is_a": [ "HP:0006707" ], "is_obsolete": "", "replace_id": "" }, "HP:0032182": { "name": [ "abnormal proportion of memory t cells", "abnormal proportion of memory t cell" ], "alt_id": [], "def": "An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response.", "synonym": [ [ "abnormal proportion of cd4+cd29+ cells", "abnormal proportion of cd4+cd29+ cell" ] ], "xref": [], "is_a": [ "HP:0025540" ], "is_obsolete": "", "replace_id": "" }, "HP:0032183": { "name": [ "decreased proportion of memory t cells", "decreased proportion of memory t cell" ], "alt_id": [], "def": "An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood.", "synonym": [ [ "decreased proportion of cd4+cd29+ cells", "decreased proportion of cd4+cd29+ cell" ] ], "xref": [], "is_a": [ "HP:0032182" ], "is_obsolete": "", "replace_id": "" }, "HP:0032184": { "name": [ "increased proportion of memory t cells", "increase proportion of memory t cell" ], "alt_id": [], "def": "An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.", "synonym": [ [ "increased proportion of cd4+cd29+ cells", "increase proportion of cd4+cd29+ cell" ] ], "xref": [], "is_a": [ "HP:0032182" ], "is_obsolete": "", "replace_id": "" }, "HP:0032185": { "name": [ "disseminated molluscum contagiosum", "disseminate molluscum contagiosum" ], "alt_id": [], "def": "The presense of molluscum contagiosum lesions across multiple areas of the body.", "synonym": [], "xref": [], "is_a": [ "HP:0032163" ], "is_obsolete": "", "replace_id": "" }, "HP:0032186": { "name": [ "anal neoplasm", "anal neoplasm" ], "alt_id": [], "def": "A benign or malignant neoplasm that affects the anal canal or anal margin.", "synonym": [], "xref": [], "is_a": [ "HP:0004378", "HP:0007378" ], "is_obsolete": "", "replace_id": "" }, "HP:0032187": { "name": [ "anal intraepithelial neoplasia", "anal intraepithelial neoplasia" ], "alt_id": [], "def": "Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.", "synonym": [], "xref": [], "is_a": [ "HP:0032186" ], "is_obsolete": "", "replace_id": "" }, "HP:0032188": { "name": [ "cellular hypersensitivity to mitomycin c", "cellular hypersensitivity to mitomycin c" ], "alt_id": [], "def": "An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.", "synonym": [], "xref": [], "is_a": [ "HP:0003254" ], "is_obsolete": "", "replace_id": "" }, "HP:0032189": { "name": [ "cellular hypersensitivity to diepoxybutane", "cellular hypersensitivity to diepoxybutane" ], "alt_id": [], "def": "An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.", "synonym": [], "xref": [], "is_a": [ "HP:0003254" ], "is_obsolete": "", "replace_id": "" }, "HP:0032190": { "name": [ "abnormal meniscus morphology", "abnormal meniscus morphology" ], "alt_id": [], "def": "Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement.", "synonym": [], "xref": [], "is_a": [ "HP:0002815" ], "is_obsolete": "", "replace_id": "" }, "HP:0032191": { "name": [ "torn meniscus", "torn meniscus" ], "alt_id": [], "def": "A tear in the cartilaginous pad (meniscus) of the knee.", "synonym": [], "xref": [], "is_a": [ "HP:0032190" ], "is_obsolete": "", "replace_id": "" }, "HP:0032192": { "name": [ "hydatidiform mole", "hydatidiform mole" ], "alt_id": [], "def": "Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast.", "synonym": [], "xref": [], "is_a": [ "HP:0001194" ], "is_obsolete": "", "replace_id": "" }, "HP:0032193": { "name": [ "decreased low - density lipoprotein particle size", "decrease low - density lipoprotein particle size" ], "alt_id": [], "def": "An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0003107" ], "is_obsolete": "", "replace_id": "" }, "HP:0032195": { "name": [ "abnormal s wave", "abnormal s wave" ], "alt_id": [], "def": "Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart.", "synonym": [], "xref": [], "is_a": [ "HP:0012249" ], "is_obsolete": "", "replace_id": "" }, "HP:0032196": { "name": [ "prominent s wave in lead i", "prominent s wave in lead i" ], "alt_id": [], "def": "Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram.", "synonym": [], "xref": [], "is_a": [ "HP:0032195" ], "is_obsolete": "", "replace_id": "" }, "HP:0032197": { "name": [ "deep s wave in lead v5", "deep s wave in lead v5" ], "alt_id": [], "def": "Abnormal depth of the S wave in lead V5 of the electrocardiogram.", "synonym": [], "xref": [], "is_a": [ "HP:0032195" ], "is_obsolete": "", "replace_id": "" }, "HP:0032198": { "name": [ "decreased prothrombin time", "decrease prothrombin time" ], "alt_id": [], "def": "Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.", "synonym": [ [ "decreased inr", "decrease inr" ], [ "decreased international normalised ratio", "decrease international normalised ratio" ], [ "decreased international normalized ratio", "decrease international normalized ratio" ], [ "decreased pt", "decrease pt" ] ], "xref": [], "is_a": [ "HP:0032199" ], "is_obsolete": "", "replace_id": "" }, "HP:0032199": { "name": [ "abnormal prothrombin time", "abnormal prothrombin time" ], "alt_id": [], "def": "Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.", "synonym": [ [ "abnormal pt", "abnormal pt" ] ], "xref": [], "is_a": [ "HP:0012200" ], "is_obsolete": "", "replace_id": "" }, "HP:0032200": { "name": [ "perivascular fibrosis", "perivascular fibrosis" ], "alt_id": [], "def": "The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern.", "synonym": [], "xref": [], "is_a": [ "HP:0033353" ], "is_obsolete": "", "replace_id": "" }, "HP:0032201": { "name": [ "rotator cuff tear", "rotator cuff tear" ], "alt_id": [], "def": "The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus.", "synonym": [], "xref": [], "is_a": [ "HP:0003043", "HP:0100261" ], "is_obsolete": "", "replace_id": "" }, "HP:0032202": { "name": [ "vulvar intraepithelial neoplasia", "vulvar intraepithelial neoplasia" ], "alt_id": [], "def": "Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC.", "synonym": [], "xref": [], "is_a": [ "HP:0030416" ], "is_obsolete": "", "replace_id": "" }, "HP:0032203": { "name": [ "lymphoid nodular hyperplasia", "lymphoid nodular hyperplasia" ], "alt_id": [], "def": "Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236).", "synonym": [ [ "lymphonodular hyperplasia of the colon", "lymphonodular hyperplasia of the colon" ] ], "xref": [], "is_a": [ "HP:0002250" ], "is_obsolete": "", "replace_id": "" }, "HP:0032204": { "name": [ "chronic active epstein - barr virus infection", "chronic active epstein - barr virus infection" ], "alt_id": [], "def": "Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed.", "synonym": [], "xref": [], "is_a": [ "HP:0031035" ], "is_obsolete": "", "replace_id": "" }, "HP:0032205": { "name": [ "increased circulating galectin - 3 level", "increase circulate galectin - 3 level" ], "alt_id": [], "def": "An increased circulation of galectin-3 in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0032207": { "name": [ "abnormal cerebrospinal fluid metabolite concentration", "abnormal cerebrospinal fluid metabolite concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a metabolite in cerebrospinal fluid.", "synonym": [ [ "abnormal csf metabolite concentration", "abnormal csf metabolite concentration" ] ], "xref": [], "is_a": [ "HP:0001939" ], "is_obsolete": "", "replace_id": "" }, "HP:0032208": { "name": [ "increased urinary type 1 collagen n - terminal telopeptide level", "increase urinary type 1 collagen n - terminal telopeptide level" ], "alt_id": [], "def": "An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours.", "synonym": [ [ "increased collagen crosslinked n - telopeptide [ moles / volume ] in 24 hour urine", "increase collagen crosslinked n - telopeptide [ mole / volume ] in 24 hour urine" ], [ "increased urine ntx level", "increase urine ntx level" ] ], "xref": [], "is_a": [ "HP:0033384" ], "is_obsolete": "", "replace_id": "" }, "HP:0032209": { "name": [ "abnormal circulating free t3 level", "abnormal circulate free t3 level" ], "alt_id": [], "def": "A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3.", "synonym": [ [ "abnormal circulating free t3 concentration", "abnormal circulate free t3 concentration" ], [ "abnormal circulating free triiodotyronine concentration", "abnormal circulate free triiodotyronine concentration" ] ], "xref": [], "is_a": [ "HP:0031508" ], "is_obsolete": "", "replace_id": "" }, "HP:0032210": { "name": [ "decreased circulating free t3", "decrease circulate free t3" ], "alt_id": [], "def": "A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.", "synonym": [ [ "decreased circulating free triiodothyronine", "decrease circulate free triiodothyronine" ] ], "xref": [], "is_a": [ "HP:0032209" ], "is_obsolete": "", "replace_id": "" }, "HP:0032211": { "name": [ "increased urinary epithelial cell count", "increase urinary epithelial cell count" ], "alt_id": [], "def": "An increased number of epithelial cells per high-power field in urinanalysis.", "synonym": [], "xref": [], "is_a": [ "HP:0012614" ], "is_obsolete": "", "replace_id": "" }, "HP:0032212": { "name": [ "increased urinary squamous epithelial cell count", "increase urinary squamous epithelial cell count" ], "alt_id": [], "def": "An increased number of squamous epithelial cells per high-power field in urinanalysis.", "synonym": [], "xref": [], "is_a": [ "HP:0032211" ], "is_obsolete": "", "replace_id": "" }, "HP:0032213": { "name": [ "increased urinary renal tubular epithelial cell count", "increase urinary renal tubular epithelial cell count" ], "alt_id": [], "def": "An increased number of renal tubular epithelial cells per high-power field in urinanalysis.", "synonym": [], "xref": [], "is_a": [ "HP:0032211" ], "is_obsolete": "", "replace_id": "" }, "HP:0032214": { "name": [ "increased urinary transitional epithelial cell count", "increase urinary transitional epithelial cell count" ], "alt_id": [], "def": "An increased number of transitional epithelial cells per high-power field in urinanalysis.", "synonym": [], "xref": [], "is_a": [ "HP:0032211" ], "is_obsolete": "", "replace_id": "" }, "HP:0032215": { "name": [ "disseminated cutaneous warts", "disseminate cutaneous wart" ], "alt_id": [], "def": "Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.", "synonym": [], "xref": [], "is_a": [ "HP:0200043" ], "is_obsolete": "", "replace_id": "" }, "HP:0032216": { "name": [ "lymphocytic infiltration of the colorectal mucosa", "lymphocytic infiltration of the colorectal mucosa" ], "alt_id": [], "def": "Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy.", "synonym": [], "xref": [], "is_a": [ "HP:0025090" ], "is_obsolete": "", "replace_id": "" }, "HP:0032217": { "name": [ "indurated nodule", "indurate nodule" ], "alt_id": [], "def": "A skin nodule that is unusually hard (indurated).", "synonym": [], "xref": [], "is_a": [ "HP:0200036" ], "is_obsolete": "", "replace_id": "" }, "HP:0032218": { "name": [ "decreased proportion of cd4 - positive t cells", "decreased proportion of cd4 - positive t cell" ], "alt_id": [], "def": "A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.", "synonym": [ [ "decreased proportion of cd4+ cells", "decreased proportion of cd4+ cell" ], [ "decreased proportion of cd4 - positive , alpha - beta t cells", "decreased proportion of cd4 - positive , alpha - beta t cell" ], [ "reduced proportion of cd4 - positive cells", "reduce proportion of cd4 - positive cell" ] ], "xref": [], "is_a": [ "HP:0031392" ], "is_obsolete": "", "replace_id": "" }, "HP:0032219": { "name": [ "increased proportion of cd4 - positive t cells", "increase proportion of cd4 - positive t cell" ], "alt_id": [], "def": "An elevation in the proportion of CD4-positive T cells relative to the total number of T cells.", "synonym": [ [ "elevated proportion of cd4 - positive t cells", "elevate proportion of cd4 - positive t cell" ], [ "increased proportion of cd4+ t cells", "increase proportion of cd4+ t cell" ], [ "increased proportion of cd4 - positive , alpha - beta t cells", "increase proportion of cd4 - positive , alpha - beta t cell" ] ], "xref": [], "is_a": [ "HP:0031392" ], "is_obsolete": "", "replace_id": "" }, "HP:0032220": { "name": [ "interface hepatitis", "interface hepatitis" ], "alt_id": [], "def": "Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma.", "synonym": [], "xref": [], "is_a": [ "HP:0012115" ], "is_obsolete": "", "replace_id": "" }, "HP:0032221": { "name": [ "periportal emperipolesis", "periportal emperipolesis" ], "alt_id": [], "def": "The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area.", "synonym": [], "xref": [], "is_a": [ "HP:0030146" ], "is_obsolete": "", "replace_id": "" }, "HP:0032222": { "name": [ "serrated intestinal polyps", "serrate intestinal polyp" ], "alt_id": [], "def": "The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification.", "synonym": [ [ "serrated polyposis", "serrate polyposis" ] ], "xref": [], "is_a": [ "HP:0200008" ], "is_obsolete": "", "replace_id": "" }, "HP:0032223": { "name": [ "blood group", "blood group" ], "alt_id": [], "def": "Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems.", "synonym": [], "xref": [], "is_a": [ "HP:0000001" ], "is_obsolete": "", "replace_id": "" }, "HP:0032224": { "name": [ "abo blood group", "abo blood group" ], "alt_id": [], "def": "The ABO system consists of A and B antigens and antibodies against these antigens.", "synonym": [], "xref": [], "is_a": [ "HP:0032223" ], "is_obsolete": "", "replace_id": "" }, "HP:0032225": { "name": [ "perifollicular fibroma", "perifollicular fibroma" ], "alt_id": [], "def": "Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.", "synonym": [], "xref": [], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0032226": { "name": [ "abnormal sebaceous gland morphology", "abnormal sebaceous gland morphology" ], "alt_id": [], "def": "Any structural anomaly of the sebaceous glands.", "synonym": [], "xref": [], "is_a": [ "HP:0011138" ], "is_obsolete": "", "replace_id": "" }, "HP:0032227": { "name": [ "sebaceous hyperplasia", "sebaceous hyperplasia" ], "alt_id": [], "def": "A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.", "synonym": [], "xref": [], "is_a": [ "HP:0032226" ], "is_obsolete": "", "replace_id": "" }, "HP:0032228": { "name": [ "trichodiscoma", "trichodiscoma" ], "alt_id": [], "def": "A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.", "synonym": [], "xref": [], "is_a": [ "HP:0012842" ], "is_obsolete": "", "replace_id": "" }, "HP:0032229": { "name": [ "perinuclear antineutrophil antibody positivity", "perinuclear antineutrophil antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.", "synonym": [ [ "p - anca positivity", "p - anca positivity" ] ], "xref": [], "is_a": [ "HP:0003453" ], "is_obsolete": "", "replace_id": "" }, "HP:0032230": { "name": [ "cytoplasmic antineutrophil antibody positivity", "cytoplasmic antineutrophil antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.", "synonym": [], "xref": [], "is_a": [ "HP:0003453" ], "is_obsolete": "", "replace_id": "" }, "HP:0032231": { "name": [ "hypochromia", "hypochromia" ], "alt_id": [], "def": "A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.", "synonym": [], "xref": [], "is_a": [ "HP:0001903" ], "is_obsolete": "", "replace_id": "" }, "HP:0032232": { "name": [ "increased circulating creatine kinase mb isoform", "increase circulate creatine kinase mb isoform" ], "alt_id": [], "def": "An increased concentration of the MB isoform of creatine kinase in the blood circulation.", "synonym": [ [ "increased circulating ck mb isoform", "increase circulate ck mb isoform" ] ], "xref": [], "is_a": [ "HP:0040081" ], "is_obsolete": "", "replace_id": "" }, "HP:0032233": { "name": [ "increased circulating creatine kinase bb isoform", "increase circulate creatine kinase bb isoform" ], "alt_id": [], "def": "An increased concentration of the BB isoform of creatine kinase in the blood circulation.", "synonym": [ [ "increased circulating ck bb isoform", "increase circulate ck bb isoform" ] ], "xref": [], "is_a": [ "HP:0040081" ], "is_obsolete": "", "replace_id": "" }, "HP:0032234": { "name": [ "increased circulating creatine kinase mm isoform", "increase circulate creatine kinase mm isoform" ], "alt_id": [], "def": "An increased concentration of the MM isoform of creatine kinase in the blood circulation.", "synonym": [ [ "increased circulating ck mm isoform", "increase circulate ck mm isoform" ] ], "xref": [], "is_a": [ "HP:0040081" ], "is_obsolete": "", "replace_id": "" }, "HP:0032235": { "name": [ "anti - la / ss - b antibody positivity", "anti - la / ss - b antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens.", "synonym": [], "xref": [], "is_a": [ "HP:0033476" ], "is_obsolete": "", "replace_id": "" }, "HP:0032236": { "name": [ "increased circulating immature neutrophil count", "increase circulating immature neutrophil count" ], "alt_id": [], "def": "An abnormally increased number of immature neutrophils in the peripheral blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0011991" ], "is_obsolete": "", "replace_id": "" }, "HP:0032237": { "name": [ "increased circulating myelocyte count", "increase circulate myelocyte count" ], "alt_id": [], "def": "An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1.", "synonym": [], "xref": [], "is_a": [ "HP:0032236" ], "is_obsolete": "", "replace_id": "" }, "HP:0032238": { "name": [ "increased circulating metamyelocyte count", "increase circulate metamyelocyte count" ], "alt_id": [], "def": "An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1.", "synonym": [], "xref": [], "is_a": [ "HP:0032236" ], "is_obsolete": "", "replace_id": "" }, "HP:0032239": { "name": [ "increased circulating band cell count", "increase circulate band cell count" ], "alt_id": [], "def": "An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2.", "synonym": [ [ "increased circulating band form neutrophils", "increase circulate band form neutrophil" ], [ "left shift", "leave shift" ] ], "xref": [], "is_a": [ "HP:0032236" ], "is_obsolete": "", "replace_id": "" }, "HP:0032240": { "name": [ "elevated circulating e selectin level", "elevate circulate e selectin level" ], "alt_id": [], "def": "An increased concentration of E selectin in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0032241": { "name": [ "cervical neoplasm", "cervical neoplasm" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the uterine cervix.", "synonym": [], "xref": [], "is_a": [ "HP:0012888" ], "is_obsolete": "", "replace_id": "" }, "HP:0032242": { "name": [ "cervical intraepithelial neoplasia", "cervical intraepithelial neoplasia" ], "alt_id": [], "def": "A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer.", "synonym": [], "xref": [], "is_a": [ "HP:0032241" ], "is_obsolete": "", "replace_id": "" }, "HP:0032243": { "name": [ "abnormal tissue metabolite concentration", "abnormal tissue metabolite concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a metabolite in a tissue.", "synonym": [], "xref": [], "is_a": [ "HP:0001939" ], "is_obsolete": "", "replace_id": "" }, "HP:0032244": { "name": [ "decreased serum thromboxane b2", "decrease serum thromboxane b2" ], "alt_id": [], "def": "A reduction in the concentration of thromboxane B2 in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0030389" ], "is_obsolete": "", "replace_id": "" }, "HP:0032245": { "name": [ "abnormal metabolism", "abnormal metabolism" ], "alt_id": [], "def": "An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.", "synonym": [], "xref": [], "is_a": [ "HP:0001939" ], "is_obsolete": "", "replace_id": "" }, "HP:0032247": { "name": [ "persistent cmv viremia", "persistent cmv viremia" ], "alt_id": [], "def": "Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0031692", "HP:0032248" ], "is_obsolete": "", "replace_id": "" }, "HP:0032248": { "name": [ "persistent viremia", "persistent viremia" ], "alt_id": [], "def": "Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host.", "synonym": [], "xref": [], "is_a": [ "HP:0020071", "HP:0032169" ], "is_obsolete": "", "replace_id": "" }, "HP:0032249": { "name": [ "coccidioidomycosis", "coccidioidomycosis" ], "alt_id": [], "def": "Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii.", "synonym": [ [ "valley fever", "valley fever" ] ], "xref": [], "is_a": [ "HP:0032255" ], "is_obsolete": "", "replace_id": "" }, "HP:0032250": { "name": [ "acinetobacter infection", "acinetobacter infection" ], "alt_id": [], "def": "An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay.", "synonym": [], "xref": [], "is_a": [ "HP:0032260" ], "is_obsolete": "", "replace_id": "" }, "HP:0032251": { "name": [ "abnormal immune system morphology", "abnormal immune system morphology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0002715" ], "is_obsolete": "", "replace_id": "" }, "HP:0032252": { "name": [ "granuloma", "granuloma" ], "alt_id": [], "def": "A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.", "synonym": [], "xref": [], "is_a": [ "HP:0032251" ], "is_obsolete": "", "replace_id": "" }, "HP:0032253": { "name": [ "eosinophilic granuloma", "eosinophilic granuloma" ], "alt_id": [], "def": "A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris.", "synonym": [], "xref": [], "is_a": [ "HP:0032252" ], "is_obsolete": "", "replace_id": "" }, "HP:0032254": { "name": [ "increased circulating copper concentration", "increase circulate copper concentration" ], "alt_id": [], "def": "An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration.", "synonym": [ [ "elevated serum copper", "elevate serum copper" ], [ "hypercupremia", "hypercupremia" ] ], "xref": [], "is_a": [ "HP:0010836" ], "is_obsolete": "", "replace_id": "" }, "HP:0032255": { "name": [ "opportunistic fungal infection", "opportunistic fungal infection" ], "alt_id": [], "def": "An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.", "synonym": [], "xref": [], "is_a": [ "HP:0020100", "HP:0031690" ], "is_obsolete": "", "replace_id": "" }, "HP:0032256": { "name": [ "histoplasmosis", "histoplasmosis" ], "alt_id": [], "def": "Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons.", "synonym": [], "xref": [], "is_a": [ "HP:0032255" ], "is_obsolete": "", "replace_id": "" }, "HP:0032257": { "name": [ "disseminated histoplasmosis", "disseminate histoplasmosis" ], "alt_id": [], "def": "Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS.", "synonym": [], "xref": [], "is_a": [ "HP:0032256" ], "is_obsolete": "", "replace_id": "" }, "HP:0032258": { "name": [ "pulmonary histoplasmosis", "pulmonary histoplasmosis" ], "alt_id": [], "def": "Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum.", "synonym": [], "xref": [], "is_a": [ "HP:0032256" ], "is_obsolete": "", "replace_id": "" }, "HP:0032259": { "name": [ "chronic tinea infection", "chronic tinea infection" ], "alt_id": [], "def": "The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect.", "synonym": [], "xref": [], "is_a": [ "HP:0031035" ], "is_obsolete": "", "replace_id": "" }, "HP:0032260": { "name": [ "opportunistic bacterial infection", "opportunistic bacterial infection" ], "alt_id": [], "def": "An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system.", "synonym": [], "xref": [], "is_a": [ "HP:0031690" ], "is_obsolete": "", "replace_id": "" }, "HP:0032261": { "name": [ "nontuberculous mycobacterial pulmonary infection", "nontuberculous mycobacterial pulmonary infection" ], "alt_id": [], "def": "An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.", "synonym": [], "xref": [], "is_a": [ "HP:0032260" ], "is_obsolete": "", "replace_id": "" }, "HP:0032262": { "name": [ "pulmonary tuberculosis", "pulmonary tuberculosis" ], "alt_id": [], "def": "A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria.", "synonym": [ [ "pulmonary tb", "pulmonary tb" ] ], "xref": [], "is_a": [ "HP:0032260" ], "is_obsolete": "", "replace_id": "" }, "HP:0032263": { "name": [ "increased blood pressure", "increase blood pressure" ], "alt_id": [], "def": "Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.", "synonym": [ [ "increased bp", "increase bp" ] ], "xref": [], "is_a": [ "HP:0030972" ], "is_obsolete": "", "replace_id": "" }, "HP:0032264": { "name": [ "anti - nmda receptor antibody positivity", "anti - nmda receptor antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.", "synonym": [ [ "presence of anti - n - methyl - d - aspartate receptor antibody in blood", "presence of anti - n - methyl - d - aspartate receptor antibody in blood" ], [ "presence of anti - nmdar antibody in blood", "presence of anti - nmdar antibody in blood" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0032265": { "name": [ "csf autoimmune antibody positivity", "csf autoimmune antibody positivity" ], "alt_id": [], "def": "The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues.", "synonym": [ [ "cerebrospinal fluid autoimmune antibody positivity", "cerebrospinal fluid autoimmune antibody positivity" ] ], "xref": [], "is_a": [ "HP:0002960" ], "is_obsolete": "", "replace_id": "" }, "HP:0032266": { "name": [ "csf anti - nmda receptor antibody positivity", "csf anti - nmda receptor antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.", "synonym": [ [ "presence of anti - n - methyl - d - aspartate receptor antibody in csf", "presence of anti - n - methyl - d - aspartate receptor antibody in csf" ], [ "presence of anti - nmdar antibody in cerebrospinal fluid", "presence of anti - nmdar antibody in cerebrospinal fluid" ], [ "presence of nmdar antibody in csf", "presence of nmdar antibody in csf" ] ], "xref": [], "is_a": [ "HP:0032265" ], "is_obsolete": "", "replace_id": "" }, "HP:0032267": { "name": [ "empty delta sign", "empty delta sign" ], "alt_id": [], "def": "This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases.", "synonym": [], "xref": [], "is_a": [ "HP:0010303" ], "is_obsolete": "", "replace_id": "" }, "HP:0032268": { "name": [ "dural tail sign", "dural tail sign" ], "alt_id": [], "def": "This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor.", "synonym": [], "xref": [], "is_a": [ "HP:0010303" ], "is_obsolete": "", "replace_id": "" }, "HP:0032269": { "name": [ "lemon sign", "lemon sign" ], "alt_id": [], "def": "Bifrontal flattening of the fetal head as observed by prenatal ultrasonographic examination, an appearance that is said to resemble a lemon.", "synonym": [], "xref": [], "is_a": [ "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0032270": { "name": [ "optic nerve tram - track sign", "optic nerve tram - track sign" ], "alt_id": [], "def": "A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common.", "synonym": [], "xref": [], "is_a": [ "HP:0000587" ], "is_obsolete": "", "replace_id": "" }, "HP:0032271": { "name": [ "extrapulmonary tuberculosis", "extrapulmonary tuberculosis" ], "alt_id": [], "def": "A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB.", "synonym": [ [ "extrapulmonary tb", "extrapulmonary tb" ] ], "xref": [], "is_a": [ "HP:0032260" ], "is_obsolete": "", "replace_id": "" }, "HP:0032272": { "name": [ "elevated urinary n - acetylaspartic acid level", "elevate urinary n - acetylaspartic acid level" ], "alt_id": [], "def": "Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry.", "synonym": [], "xref": [], "is_a": [ "HP:0033097" ], "is_obsolete": "", "replace_id": "" }, "HP:0032273": { "name": [ "increased circulating n - acetylaspartic acid concentration", "increase circulate n - acetylaspartic acid concentration" ], "alt_id": [], "def": "An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation.", "synonym": [ [ "increased circulating n - acetyl aspartate level", "increase circulate n - acetyl aspartate level" ], [ "increased circulating n - acetyl aspartic acid level", "increase circulate n - acetyl aspartic acid level" ], [ "increased circulating n - acetyl - l - aspartic acid level", "increase circulate n - acetyl - l - aspartic acid level" ], [ "increased circulating n - acetylaspartate level", "increase circulate n - acetylaspartate level" ], [ "increased circulating naa level", "increase circulate naa level" ] ], "xref": [], "is_a": [ "HP:0033108" ], "is_obsolete": "", "replace_id": "" }, "HP:0032274": { "name": [ "increased csf n - acetylaspartic acid concentration", "increase csf n - acetylaspartic acid concentration" ], "alt_id": [], "def": "An abnormally increased concentration of N-Acetylaspartic acid in the cerebrospinal fluid (CSF).", "synonym": [ [ "increased n - acetyl aspartate levels in csf", "increase n - acetyl aspartate level in csf" ], [ "increased n - acetyl aspartic acid levels in csf", "increase n - acetyl aspartic acid level in csf" ], [ "increased n - acetyl - l - aspartic acid levels in csf", "increase n - acetyl - l - aspartic acid level in csf" ], [ "increased n - acetylaspartate levels in csf", "increase n - acetylaspartate level in csf" ], [ "increased naa levels in csf", "increase naa level in csf" ] ], "xref": [], "is_a": [ "HP:0032207" ], "is_obsolete": "", "replace_id": "" }, "HP:0032275": { "name": [ "recurrent shingles", "recurrent shingle" ], "alt_id": [], "def": "Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes.", "synonym": [], "xref": [], "is_a": [ "HP:0005353" ], "is_obsolete": "", "replace_id": "" }, "HP:0032276": { "name": [ "prominent subcalcaneal fat pad", "prominent subcalcaneal fat pad" ], "alt_id": [], "def": "Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062.", "synonym": [], "xref": [], "is_a": [ "HP:0001760" ], "is_obsolete": "", "replace_id": "" }, "HP:0032277": { "name": [ "lozenge - shaped umbilicus", "lozenge - shape umbilicus" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0001551" ], "is_obsolete": "", "replace_id": "" }, "HP:0032278": { "name": [ "2 - hydroxyglutarate aciduria", "2 - hydroxyglutarate aciduria" ], "alt_id": [], "def": "An increase in the level of 2-hydroxyglutaric acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0003215" ], "is_obsolete": "", "replace_id": "" }, "HP:0032281": { "name": [ "abnormal base excess", "abnormal base excess" ], "alt_id": [], "def": "Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C).", "synonym": [], "xref": [], "is_a": [ "HP:0004360" ], "is_obsolete": "", "replace_id": "" }, "HP:0032282": { "name": [ "contact dermatitis", "contact dermatitis" ], "alt_id": [], "def": "An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis.", "synonym": [], "xref": [], "is_a": [ "HP:0000964" ], "is_obsolete": "", "replace_id": "" }, "HP:0032283": { "name": [ "disseminated nontuberculous mycobacterial infection", "disseminate nontuberculous mycobacterial infection" ], "alt_id": [], "def": "An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.", "synonym": [], "xref": [], "is_a": [ "HP:0032260" ], "is_obsolete": "", "replace_id": "" }, "HP:0032284": { "name": [ "ultra - low vision with retained motion projection", "ultra - low vision with retained motion projection" ], "alt_id": [], "def": "Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm).", "synonym": [], "xref": [], "is_a": [ "HP:0032123" ], "is_obsolete": "", "replace_id": "" }, "HP:0032285": { "name": [ "ultra - low vision with retained light projection", "ultra - low vision with retained light projection" ], "alt_id": [], "def": "Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus.", "synonym": [], "xref": [], "is_a": [ "HP:0032123" ], "is_obsolete": "", "replace_id": "" }, "HP:0032286": { "name": [ "ultra - low vision with retained light perception", "ultra - low vision with retained light perception" ], "alt_id": [], "def": "Ultra-low vision but with retained ability to perceive the difference between light and dark.", "synonym": [], "xref": [], "is_a": [ "HP:0032123" ], "is_obsolete": "", "replace_id": "" }, "HP:0032287": { "name": [ "ultra - low vision with no light perception", "ultra - low vision with no light perception" ], "alt_id": [], "def": "Ultra-low vision with complete lack of light and form perception.", "synonym": [], "xref": [], "is_a": [ "HP:0032123" ], "is_obsolete": "", "replace_id": "" }, "HP:0032288": { "name": [ "polyclonal elevation of circulating igg", "polyclonal elevation of circulate igg" ], "alt_id": [], "def": "An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains.", "synonym": [], "xref": [], "is_a": [ "HP:0003237" ], "is_obsolete": "", "replace_id": "" }, "HP:0032289": { "name": [ "oligoclonal elevation of circulating igg", "oligoclonal elevation of circulate igg" ], "alt_id": [], "def": "An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.", "synonym": [], "xref": [], "is_a": [ "HP:0003237" ], "is_obsolete": "", "replace_id": "" }, "HP:0032290": { "name": [ "monoclonal elevation of igg", "monoclonal elevation of igg" ], "alt_id": [], "def": "An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.", "synonym": [], "xref": [], "is_a": [ "HP:0003237" ], "is_obsolete": "", "replace_id": "" }, "HP:0032291": { "name": [ "monoclonal elevation of intact igg", "monoclonal elevation of intact igg" ], "alt_id": [], "def": "A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain.", "synonym": [], "xref": [], "is_a": [ "HP:0032290" ], "is_obsolete": "", "replace_id": "" }, "HP:0032292": { "name": [ "monoclonal elevation of igg light chain", "monoclonal elevation of igg light chain" ], "alt_id": [], "def": "A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain.", "synonym": [], "xref": [], "is_a": [ "HP:0032290" ], "is_obsolete": "", "replace_id": "" }, "HP:0032293": { "name": [ "monoclonal elevation of igg heavy chain", "monoclonal elevation of igg heavy chain" ], "alt_id": [], "def": "A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain.", "synonym": [], "xref": [], "is_a": [ "HP:0032290" ], "is_obsolete": "", "replace_id": "" }, "HP:0032294": { "name": [ "monoclonal elevation of igg kappa chain", "monoclonal elevation of igg kappa chain" ], "alt_id": [], "def": "A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain.", "synonym": [], "xref": [], "is_a": [ "HP:0032292" ], "is_obsolete": "", "replace_id": "" }, "HP:0032295": { "name": [ "monoclonal elevation of igg lambda chain", "monoclonal elevation of igg lambda chain" ], "alt_id": [], "def": "A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain.", "synonym": [], "xref": [], "is_a": [ "HP:0032292" ], "is_obsolete": "", "replace_id": "" }, "HP:0032296": { "name": [ "increased circulating igg subclass", "increase circulate igg subclass" ], "alt_id": [], "def": "An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses.", "synonym": [], "xref": [], "is_a": [ "HP:0003237" ], "is_obsolete": "", "replace_id": "" }, "HP:0032297": { "name": [ "increased circulating igg3 level", "increase circulate igg3 level" ], "alt_id": [], "def": "An abnormally increased concentration of the IgG3 subtype in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0032296" ], "is_obsolete": "", "replace_id": "" }, "HP:0032298": { "name": [ "increased circulating igg1 level", "increase circulate igg1 level" ], "alt_id": [], "def": "An abnormally increased concentration of the IgG1 subtype in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0032296" ], "is_obsolete": "", "replace_id": "" }, "HP:0032299": { "name": [ "increased circulating igg2 level", "increase circulate igg2 level" ], "alt_id": [], "def": "An abnormally increased concentration of the IgG2 subtype in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0032296" ], "is_obsolete": "", "replace_id": "" }, "HP:0032300": { "name": [ "increased circulating igg4 level", "increase circulate igg4 level" ], "alt_id": [], "def": "An abnormally increased concentration of the IgG4 subtype in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0032296" ], "is_obsolete": "", "replace_id": "" }, "HP:0032301": { "name": [ "genital warts", "genital wart" ], "alt_id": [], "def": "Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress.", "synonym": [], "xref": [], "is_a": [ "HP:0200043" ], "is_obsolete": "", "replace_id": "" }, "HP:0032302": { "name": [ "kappa bence jones proteinuria", "kappa bence jones proteinuria" ], "alt_id": [], "def": "The presence of free monoclonal kappa immunoglobulin light chains in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0030156" ], "is_obsolete": "", "replace_id": "" }, "HP:0032303": { "name": [ "lambda bence jones proteinuria", "lambda bence jones proteinuria" ], "alt_id": [], "def": "The presence of free monoclonal lambda immunoglobulin light chains in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0030156" ], "is_obsolete": "", "replace_id": "" }, "HP:0032304": { "name": [ "abnormal mannose - binding protein level", "abnormal mannose - bind protein level" ], "alt_id": [], "def": "Any deviation from the normal concentration of mannose-binding protein in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0032305": { "name": [ "decreased mannose - binding protein level", "decrease mannose - binding protein level" ], "alt_id": [], "def": "An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0032304" ], "is_obsolete": "", "replace_id": "" }, "HP:0032306": { "name": [ "increased mannose - binding protein level", "increase mannose - binding protein level" ], "alt_id": [], "def": "An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0032304" ], "is_obsolete": "", "replace_id": "" }, "HP:0032308": { "name": [ "increased circulating procalcitonin concentration", "increase circulate procalcitonin concentration" ], "alt_id": [], "def": "An elevated concentration of procalcitonin in the blood circulation.", "synonym": [ [ "increased circulating procalcitonin level", "increase circulate procalcitonin level" ] ], "xref": [], "is_a": [ "HP:0100530" ], "is_obsolete": "", "replace_id": "" }, "HP:0032309": { "name": [ "abnormal granulocyte count", "abnormal granulocyte count" ], "alt_id": [], "def": "Any deviation from the normal cell count per volume of granulocytes in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0001911", "HP:0011893" ], "is_obsolete": "", "replace_id": "" }, "HP:0032310": { "name": [ "granulocytosis", "granulocytosis" ], "alt_id": [], "def": "An increased count of granulocytes in the peripheral blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0032309" ], "is_obsolete": "", "replace_id": "" }, "HP:0032311": { "name": [ "increased circulating globulin level", "increase circulate globulin level" ], "alt_id": [], "def": "An abnormally elevated concentration of globulins in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0032179" ], "is_obsolete": "", "replace_id": "" }, "HP:0032312": { "name": [ "decreased circulating globulin level", "decrease circulate globulin level" ], "alt_id": [], "def": "An abnormally reduced concentration of globulins in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0032179" ], "is_obsolete": "", "replace_id": "" }, "HP:0032313": { "name": [ "frontotemporal hypertrichosis", "frontotemporal hypertrichosis" ], "alt_id": [], "def": "Excessive, increased hair growth located in the region of the forehead and temple.", "synonym": [], "xref": [], "is_a": [ "HP:0002219" ], "is_obsolete": "", "replace_id": "" }, "HP:0032314": { "name": [ "abnormal areolar morphology", "abnormal areolar morphology" ], "alt_id": [], "def": "An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple.", "synonym": [], "xref": [], "is_a": [ "HP:0031093" ], "is_obsolete": "", "replace_id": "" }, "HP:0032315": { "name": [ "areolar fullness", "areolar fullness" ], "alt_id": [], "def": "The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape.", "synonym": [], "xref": [], "is_a": [ "HP:0032314" ], "is_obsolete": "", "replace_id": "" }, "HP:0032316": { "name": [ "family history", "family history" ], "alt_id": [], "def": "Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins.", "synonym": [], "xref": [], "is_a": [ "HP:0032443" ], "is_obsolete": "", "replace_id": "" }, "HP:0032317": { "name": [ "family history of cancer", "family history of cancer" ], "alt_id": [], "def": "A close blood relative had cancer.", "synonym": [], "xref": [], "is_a": [ "HP:0032316" ], "is_obsolete": "", "replace_id": "" }, "HP:0032318": { "name": [ "family history of heart disease", "family history of heart disease" ], "alt_id": [], "def": "A close blood relative had heart disease.", "synonym": [], "xref": [], "is_a": [ "HP:0032316" ], "is_obsolete": "", "replace_id": "" }, "HP:0032319": { "name": [ "health status", "health status" ], "alt_id": [], "def": "Health status of a family member with respect to the disease being investigated in a proband.", "synonym": [], "xref": [], "is_a": [ "HP:0032316" ], "is_obsolete": "", "replace_id": "" }, "HP:0032320": { "name": [ "affected", "affected" ], "alt_id": [], "def": "This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband).", "synonym": [], "xref": [], "is_a": [ "HP:0032319" ], "is_obsolete": "", "replace_id": "" }, "HP:0032321": { "name": [ "unaffected", "unaffected" ], "alt_id": [], "def": "This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded.", "synonym": [], "xref": [], "is_a": [ "HP:0032319" ], "is_obsolete": "", "replace_id": "" }, "HP:0032322": { "name": [ "healthy", "healthy" ], "alt_id": [], "def": "No history of any serious disease, including the disease being investigated in the proband.", "synonym": [], "xref": [], "is_a": [ "HP:0032319" ], "is_obsolete": "", "replace_id": "" }, "HP:0032323": { "name": [ "periodic fever", "periodic fever" ], "alt_id": [], "def": "Episodic fever that recurs at regular intervals.", "synonym": [], "xref": [], "is_a": [ "HP:0001954" ], "is_obsolete": "", "replace_id": "" }, "HP:0032324": { "name": [ "non - periodic recurrent fever", "non - periodic recurrent fever" ], "alt_id": [], "def": "Episodic fever that recurs at irregular intervals.", "synonym": [], "xref": [], "is_a": [ "HP:0001954" ], "is_obsolete": "", "replace_id": "" }, "HP:0032325": { "name": [ "lacunar stroke", "lacunar stroke" ], "alt_id": [], "def": "A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.", "synonym": [], "xref": [], "is_a": [ "HP:0002140" ], "is_obsolete": "", "replace_id": "" }, "HP:0032326": { "name": [ "methicillin - resistant staphylococcus aureus infection", "methicillin - resistant staphylococcus aureus infection" ], "alt_id": [], "def": "Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.", "synonym": [ [ "mrsa infection", "mrsa infection" ] ], "xref": [], "is_a": [ "HP:0032260" ], "is_obsolete": "", "replace_id": "" }, "HP:0032327": { "name": [ "interhemispheric cyst", "interhemispheric cyst" ], "alt_id": [], "def": "Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.", "synonym": [], "xref": [], "is_a": [ "HP:0012703" ], "is_obsolete": "", "replace_id": "" }, "HP:0032328": { "name": [ "temporomandibular joint adhesion", "temporomandibular joint adhesion" ], "alt_id": [], "def": "Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ.", "synonym": [], "xref": [], "is_a": [ "HP:0010754" ], "is_obsolete": "", "replace_id": "" }, "HP:0032329": { "name": [ "increased urinary 11 - deoxycortisol level", "increase urinary 11 - deoxycortisol level" ], "alt_id": [], "def": "An abnormally elevated concentration of 11-deoxycortisol in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0012029" ], "is_obsolete": "", "replace_id": "" }, "HP:0032330": { "name": [ "increased urinary 11 - deoxycorticosterone level", "increase urinary 11 - deoxycorticosterone level" ], "alt_id": [], "def": "An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0012029" ], "is_obsolete": "", "replace_id": "" }, "HP:0032331": { "name": [ "increased urinary 11 - deoxytetrahydrocorticosterone level", "increase urinary 11 - deoxytetrahydrocorticosterone level" ], "alt_id": [], "def": "An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0012029" ], "is_obsolete": "", "replace_id": "" }, "HP:0032332": { "name": [ "oligoclonal elevation of circulating igm", "oligoclonal elevation of circulate igm" ], "alt_id": [], "def": "An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase.", "synonym": [], "xref": [], "is_a": [ "HP:0003496" ], "is_obsolete": "", "replace_id": "" }, "HP:0032333": { "name": [ "polyclonal elevation of circulating iga", "polyclonal elevation of circulate iga" ], "alt_id": [], "def": "A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis.", "synonym": [], "xref": [], "is_a": [ "HP:0003261" ], "is_obsolete": "", "replace_id": "" }, "HP:0032334": { "name": [ "oligoclonal elevation of circulating iga", "oligoclonal elevation of circulate iga" ], "alt_id": [], "def": "An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.", "synonym": [], "xref": [], "is_a": [ "HP:0003261" ], "is_obsolete": "", "replace_id": "" }, "HP:0032335": { "name": [ "monoclonal elevation of circulating iga", "monoclonal elevation of circulate iga" ], "alt_id": [], "def": "An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.", "synonym": [], "xref": [], "is_a": [ "HP:0003261" ], "is_obsolete": "", "replace_id": "" }, "HP:0032336": { "name": [ "increased circulating specific ige antibody", "increase circulate specific ige antibody" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0010701" ], "is_obsolete": "", "replace_id": "" }, "HP:0032337": { "name": [ "monoclonal elevation of circulating ige", "monoclonal elevation of circulate ige" ], "alt_id": [], "def": "An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.", "synonym": [], "xref": [], "is_a": [ "HP:0003212" ], "is_obsolete": "", "replace_id": "" }, "HP:0032338": { "name": [ "oligoclonal elevation of circulating ige", "oligoclonal elevation of circulate ige" ], "alt_id": [], "def": "An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.", "synonym": [], "xref": [], "is_a": [ "HP:0003212" ], "is_obsolete": "", "replace_id": "" }, "HP:0032339": { "name": [ "polyclonal elevation of circulating ige", "polyclonal elevation of circulate ige" ], "alt_id": [], "def": "A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis.", "synonym": [], "xref": [], "is_a": [ "HP:0003212" ], "is_obsolete": "", "replace_id": "" }, "HP:0032340": { "name": [ "obsolete abnormal spirometry test", "obsolete abnormal spirometry test" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0030878" }, "HP:0032341": { "name": [ "reduced forced vital capacity", "reduce forced vital capacity" ], "alt_id": [], "def": "An abnormal reduction in the amount of air a person can expel following maximal inspiration.", "synonym": [ [ "decreased forced vital capacity", "decrease forced vital capacity" ], [ "reduced fvc", "reduce fvc" ] ], "xref": [], "is_a": [ "HP:0030878" ], "is_obsolete": "", "replace_id": "" }, "HP:0032342": { "name": [ "reduced forced expiratory volume in one second", "reduce forced expiratory volume in one second" ], "alt_id": [], "def": "An abnormal reduction in the amount of air a person can forcefully expel in one second.", "synonym": [ [ "reduced fev1", "reduce fev1" ] ], "xref": [], "is_a": [ "HP:0030878" ], "is_obsolete": "", "replace_id": "" }, "HP:0032344": { "name": [ "upslanting toenail", "upslanting toenail" ], "alt_id": [], "def": "Upturned concavity of toenails.", "synonym": [ [ "ski - jump toenail", "ski - jump toenail" ], [ "upturned toenail", "upturned toenail" ] ], "xref": [], "is_a": [ "HP:0008388" ], "is_obsolete": "", "replace_id": "" }, "HP:0032345": { "name": [ "elevated cancer ag 19 - 9 level", "elevate cancer ag 19 - 9 level" ], "alt_id": [], "def": "An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0011013" ], "is_obsolete": "", "replace_id": "" }, "HP:0032346": { "name": [ "cutaneous lichen amyloidosis", "cutaneous lichen amyloidosis" ], "alt_id": [], "def": "Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs.", "synonym": [], "xref": [], "is_a": [ "HP:0012309" ], "is_obsolete": "", "replace_id": "" }, "HP:0032347": { "name": [ "cutaneous macular amyloidosis", "cutaneous macular amyloidosis" ], "alt_id": [], "def": "A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern.", "synonym": [ [ "macular amyloidosis", "macular amyloidosis" ] ], "xref": [], "is_a": [ "HP:0012309" ], "is_obsolete": "", "replace_id": "" }, "HP:0032348": { "name": [ "cutaneous nodular amyloidosis", "cutaneous nodular amyloidosis" ], "alt_id": [], "def": "A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue.", "synonym": [], "xref": [], "is_a": [ "HP:0012309" ], "is_obsolete": "", "replace_id": "" }, "HP:0032349": { "name": [ "serinuria", "serinuria" ], "alt_id": [], "def": "A increased concentration of serine in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033099" ], "is_obsolete": "", "replace_id": "" }, "HP:0032350": { "name": [ "sulfocysteinuria", "sulfocysteinuria" ], "alt_id": [], "def": "A increased concentration of sulfocysteine in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033100" ], "is_obsolete": "", "replace_id": "" }, "HP:0032351": { "name": [ "phenylalaninuria", "phenylalaninuria" ], "alt_id": [], "def": "Increased level of phenylalanine in urine.", "synonym": [ [ "increased level of phenylalanine in urine", "increase level of phenylalanine in urine" ] ], "xref": [], "is_a": [ "HP:0033090" ], "is_obsolete": "", "replace_id": "" }, "HP:0032352": { "name": [ "methioninuria", "methioninuria" ], "alt_id": [], "def": "Increased level of methionine in urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033095" ], "is_obsolete": "", "replace_id": "" }, "HP:0032353": { "name": [ "leucinuria", "leucinuria" ], "alt_id": [], "def": "Increased level of leucine in urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033089" ], "is_obsolete": "", "replace_id": "" }, "HP:0032355": { "name": [ "decreased peak expiratory flow", "decrease peak expiratory flow" ], "alt_id": [], "def": "A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways.", "synonym": [], "xref": [], "is_a": [ "HP:0030878" ], "is_obsolete": "", "replace_id": "" }, "HP:0032356": { "name": [ "decreased pre - bronchodilator forced vital capacity", "decrease pre - bronchodilator force vital capacity" ], "alt_id": [], "def": "An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication.", "synonym": [ [ "decreased pre bronchodilator forced vital capacity", "decrease pre bronchodilator force vital capacity" ], [ "decreased prebronchodilator forced vital capacity", "decrease prebronchodilator force vital capacity" ] ], "xref": [], "is_a": [ "HP:0032341" ], "is_obsolete": "", "replace_id": "" }, "HP:0032357": { "name": [ "decreased post - bronchodilator forced vital capacity", "decrease post - bronchodilator force vital capacity" ], "alt_id": [], "def": "An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication.", "synonym": [ [ "decreased post bronchodilator forced vital capacity", "decrease post bronchodilator force vital capacity" ], [ "decreased postbronchodilator forced vital capacity", "decrease postbronchodilator force vital capacity" ] ], "xref": [], "is_a": [ "HP:0032341" ], "is_obsolete": "", "replace_id": "" }, "HP:0032358": { "name": [ "decreased post - bronchodilator forced expiratory volume in one second", "decrease post - bronchodilator force expiratory volume in one second" ], "alt_id": [], "def": "An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication.", "synonym": [ [ "decreased post bronchodilator forced expiratory volume in one second", "decrease post bronchodilator force expiratory volume in one second" ], [ "decreased postbronchodilator forced expiratory volume in one second", "decrease postbronchodilator forced expiratory volume in one second" ] ], "xref": [], "is_a": [ "HP:0032342" ], "is_obsolete": "", "replace_id": "" }, "HP:0032359": { "name": [ "decreased forced expiratory flow 25 - 75 %", "decrease forced expiratory flow 25 - 75 %" ], "alt_id": [], "def": "A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.", "synonym": [ [ "decreased fef25 - 75 %", "decrease fef25 - 75 %" ] ], "xref": [], "is_a": [ "HP:0030878" ], "is_obsolete": "", "replace_id": "" }, "HP:0032360": { "name": [ "decreased pre - bronchodilator forced expiratory flow 25 - 75 %", "decrease pre - bronchodilator force expiratory flow 25 - 75 %" ], "alt_id": [], "def": "A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication.", "synonym": [ [ "decreased pre bronchodilator forced expiratory flow 25 - 75 %", "decrease pre bronchodilator force expiratory flow 25 - 75 %" ], [ "decreased pre - bronchodilator fef25 - 75 %", "decrease pre - bronchodilator fef25 - 75 %" ], [ "decreased prebronchodilator forced expiratory flow 25 - 75 %", "decrease prebronchodilator force expiratory flow 25 - 75 %" ] ], "xref": [], "is_a": [ "HP:0032359" ], "is_obsolete": "", "replace_id": "" }, "HP:0032361": { "name": [ "decreased post - bronchodilator forced expiratory flow 25 - 75 %", "decrease post - bronchodilator force expiratory flow 25 - 75 %" ], "alt_id": [], "def": "A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication.", "synonym": [ [ "decreased post bronchodilator forced expiratory flow 25 - 75 %", "decrease post bronchodilator force expiratory flow 25 - 75 %" ], [ "decreased post - bronchodilator fef25 - 75 %", "decrease post - bronchodilator fef25 - 75 %" ], [ "decreased postbronchodilator forced expiratory flow 25 - 75 %", "decrease postbronchodilator force expiratory flow 25 - 75 %" ] ], "xref": [], "is_a": [ "HP:0032359" ], "is_obsolete": "", "replace_id": "" }, "HP:0032362": { "name": [ "increased circulating corticosterone level", "increase circulate corticosterone level" ], "alt_id": [], "def": "An abnormally elevated concentration of corticosterone in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0012112" ], "is_obsolete": "", "replace_id": "" }, "HP:0032363": { "name": [ "decreased circulating corticosterone level", "decrease circulate corticosterone level" ], "alt_id": [], "def": "An abnormally reduced concentration of corticosterone in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0012112" ], "is_obsolete": "", "replace_id": "" }, "HP:0032364": { "name": [ "obsolete abnormal csf amino acid level", "obsolete abnormal csf amino acid level" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0500184" }, "HP:0032365": { "name": [ "exacerbated by aspirin ingestion", "exacerbate by aspirin ingestion" ], "alt_id": [], "def": "Applied to a sign or symptom that is worsened by ingestion of aspirin.", "synonym": [], "xref": [], "is_a": [ "HP:0025285" ], "is_obsolete": "", "replace_id": "" }, "HP:0032366": { "name": [ "positive direct antiglobulin test", "positive direct antiglobulin test" ], "alt_id": [], "def": "A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0032367": { "name": [ "abnormal growth hormone level", "abnormal growth hormone level" ], "alt_id": [], "def": "Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.", "synonym": [ [ "abnormal somatotropin level", "abnormal somatotropin level" ] ], "xref": [], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0032368": { "name": [ "acidemia", "acidemia" ], "alt_id": [], "def": "An abnormally low blood pH (usually defined as less than 7.35).", "synonym": [], "xref": [], "is_a": [ "HP:0004360" ], "is_obsolete": "", "replace_id": "" }, "HP:0032369": { "name": [ "alkalemia", "alkalemia" ], "alt_id": [], "def": "An abnormally high blood pH (usually defined as 7.41 or above).", "synonym": [], "xref": [], "is_a": [ "HP:0004360" ], "is_obsolete": "", "replace_id": "" }, "HP:0032370": { "name": [ "blood group a", "blood group a" ], "alt_id": [], "def": "ABO phenotype A, corresponding to the genotype AO or AA.", "synonym": [], "xref": [], "is_a": [ "HP:0032224" ], "is_obsolete": "", "replace_id": "" }, "HP:0032371": { "name": [ "isoleucinuria", "isoleucinuria" ], "alt_id": [], "def": "An increased concentration of isoleucine in the urine.", "synonym": [ [ "hyperisoleucinuria", "hyperisoleucinuria" ] ], "xref": [], "is_a": [ "HP:0033089" ], "is_obsolete": "", "replace_id": "" }, "HP:0032372": { "name": [ "increased peripheral blast count", "increase peripheral blast count" ], "alt_id": [], "def": "An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications.", "synonym": [ [ "elevated blast count", "elevate blast count" ], [ "elevated circulating blasts", "elevate circulating blast" ], [ "increased peripheral myeloblast count", "increase peripheral myeloblast count" ] ], "xref": [], "is_a": [ "HP:0011893" ], "is_obsolete": "", "replace_id": "" }, "HP:0032373": { "name": [ "duffy blood group", "duffy blood group" ], "alt_id": [], "def": "The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-.", "synonym": [], "xref": [], "is_a": [ "HP:0032223" ], "is_obsolete": "", "replace_id": "" }, "HP:0032374": { "name": [ "duffy fya positivity", "duffy fya positivity" ], "alt_id": [], "def": "Presence of the Duffy Fya antigen.", "synonym": [], "xref": [], "is_a": [ "HP:0032373" ], "is_obsolete": "", "replace_id": "" }, "HP:0032375": { "name": [ "duffy fyb positivity", "duffy fyb positivity" ], "alt_id": [], "def": "Presence of the Duffy Fyb antigen.", "synonym": [], "xref": [], "is_a": [ "HP:0032373" ], "is_obsolete": "", "replace_id": "" }, "HP:0032376": { "name": [ "anti - beta 2 glycoprotein i antibody positivity", "anti - beta 2 glycoprotein i antibody positivity" ], "alt_id": [], "def": "Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS).", "synonym": [ [ "anti - b2gpi positivity", "anti - b2gpi positivity" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0032377": { "name": [ "increased urinary orosomucoid", "increase urinary orosomucoid" ], "alt_id": [], "def": "An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism.", "synonym": [ [ "increased urinary alpha - 1 - acid glycoprotein", "increase urinary alpha - 1 - acid glycoprotein" ] ], "xref": [], "is_a": [ "HP:0020129" ], "is_obsolete": "", "replace_id": "" }, "HP:0032378": { "name": [ "immediate - type hypersensitivity drug reaction", "immediate - type hypersensitivity drug reaction" ], "alt_id": [], "def": "Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement.", "synonym": [], "xref": [], "is_a": [ "HP:0100326" ], "is_obsolete": "", "replace_id": "" }, "HP:0032379": { "name": [ "polymorphous light eruption", "polymorphous light eruption" ], "alt_id": [], "def": "The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces.", "synonym": [ [ "sun allergy", "sun allergy" ] ], "xref": [], "is_a": [ "HP:0000992" ], "is_obsolete": "", "replace_id": "" }, "HP:0032381": { "name": [ "hydroa vacciniforme", "hydroa vacciniforme" ], "alt_id": [], "def": "In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation.", "synonym": [ [ "acute vesiculation and crusting and scarring following sun exposure", "acute vesiculation and crusting and scar follow sun exposure" ] ], "xref": [], "is_a": [ "HP:0000992" ], "is_obsolete": "", "replace_id": "" }, "HP:0032382": { "name": [ "uniparental disomy", "uniparental disomy" ], "alt_id": [], "def": "Inheritance of both homologues of a chromosome pair from the same parent.", "synonym": [], "xref": [], "is_a": [ "HP:0000005" ], "is_obsolete": "", "replace_id": "" }, "HP:0032383": { "name": [ "uniparental heterodisomy", "uniparental heterodisomy" ], "alt_id": [], "def": "A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted.", "synonym": [], "xref": [], "is_a": [ "HP:0032382" ], "is_obsolete": "", "replace_id": "" }, "HP:0032384": { "name": [ "uniparental isodisomy", "uniparental isodisomy" ], "alt_id": [], "def": "A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted.", "synonym": [], "xref": [], "is_a": [ "HP:0032382" ], "is_obsolete": "", "replace_id": "" }, "HP:0032385": { "name": [ "abnormal circulating transferrin concentration", "abnormal circulate transferrin concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of transferrin in the blood circulation.", "synonym": [ [ "abnormal circulating transferrin level", "abnormal circulate transferrin level" ] ], "xref": [], "is_a": [ "HP:0025465" ], "is_obsolete": "", "replace_id": "" }, "HP:0032386": { "name": [ "elevated circulating transferrin concentration", "elevate circulate transferrin concentration" ], "alt_id": [], "def": "An abnormally increased concentration of transferrin in the blood circulation.", "synonym": [ [ "elevated transferrin level", "elevate transferrin level" ] ], "xref": [], "is_a": [ "HP:0032385" ], "is_obsolete": "", "replace_id": "" }, "HP:0032387": { "name": [ "reduced circulating transferrin concentration", "reduce circulate transferrin concentration" ], "alt_id": [], "def": "An abnormally decreased concentration of transferrin in the blood circulation.", "synonym": [ [ "reduced transferrin level", "reduce transferrin level" ] ], "xref": [], "is_a": [ "HP:0032385" ], "is_obsolete": "", "replace_id": "" }, "HP:0032388": { "name": [ "periventricular nodular heterotopia", "periventricular nodular heterotopia" ], "alt_id": [], "def": "Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple.", "synonym": [], "xref": [], "is_a": [ "HP:0007165" ], "is_obsolete": "", "replace_id": "" }, "HP:0032389": { "name": [ "periventricular laminar heterotopia", "periventricular laminar heterotopia" ], "alt_id": [], "def": "A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral.", "synonym": [], "xref": [], "is_a": [ "HP:0007165" ], "is_obsolete": "", "replace_id": "" }, "HP:0032390": { "name": [ "periventricular ribbonlike heterotopia", "periventricular ribbonlike heterotopia" ], "alt_id": [], "def": "Heterotopia that forms a continuous wavy line along the ventricular wall.", "synonym": [], "xref": [], "is_a": [ "HP:0007165" ], "is_obsolete": "", "replace_id": "" }, "HP:0032391": { "name": [ "subcortical heterotopia", "subcortical heterotopia" ], "alt_id": [], "def": "A form of heterotopia were the mislocalized gray matter is located deep within the white matter.", "synonym": [], "xref": [], "is_a": [ "HP:0002282" ], "is_obsolete": "", "replace_id": "" }, "HP:0032392": { "name": [ "nodular subcortical heterotopia in peritrigonal regions", "nodular subcortical heterotopia in peritrigonal region" ], "alt_id": [], "def": "Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei.", "synonym": [], "xref": [], "is_a": [ "HP:0032391" ], "is_obsolete": "", "replace_id": "" }, "HP:0032393": { "name": [ "diffuse ribbon - like subcortical heterotopia", "diffuse ribbon - like subcortical heterotopia" ], "alt_id": [], "def": "Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex.", "synonym": [], "xref": [], "is_a": [ "HP:0032391" ], "is_obsolete": "", "replace_id": "" }, "HP:0032394": { "name": [ "mesial parasagittal subcortical heterotopia", "mesial parasagittal subcortical heterotopia" ], "alt_id": [], "def": "Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia.", "synonym": [], "xref": [], "is_a": [ "HP:0032391" ], "is_obsolete": "", "replace_id": "" }, "HP:0032395": { "name": [ "curvilinear subcortical heterotopia", "curvilinear subcortical heterotopia" ], "alt_id": [], "def": "Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia.", "synonym": [ [ "giant heterotopia", "giant heterotopia" ] ], "xref": [], "is_a": [ "HP:0032391" ], "is_obsolete": "", "replace_id": "" }, "HP:0032396": { "name": [ "transmantle columnar heterotopia", "transmantle columnar heterotopia" ], "alt_id": [], "def": "Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma.", "synonym": [], "xref": [], "is_a": [ "HP:0032391" ], "is_obsolete": "", "replace_id": "" }, "HP:0032397": { "name": [ "citrullinuria", "citrullinuria" ], "alt_id": [], "def": "An increased concentration of citrulline in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033098" ], "is_obsolete": "", "replace_id": "" }, "HP:0032398": { "name": [ "dysgyria", "dysgyria" ], "alt_id": [], "def": "An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.", "synonym": [], "xref": [], "is_a": [ "HP:0002269" ], "is_obsolete": "", "replace_id": "" }, "HP:0032399": { "name": [ "dysgyria with normal cortical thickness", "dysgyria with normal cortical thickness" ], "alt_id": [], "def": "An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex.", "synonym": [], "xref": [], "is_a": [ "HP:0032398" ], "is_obsolete": "", "replace_id": "" }, "HP:0032400": { "name": [ "dysgyria with thickened cortex", "dysgyria with thickened cortex" ], "alt_id": [], "def": "An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria.", "synonym": [], "xref": [], "is_a": [ "HP:0006891", "HP:0032398" ], "is_obsolete": "", "replace_id": "" }, "HP:0032401": { "name": [ "aspartic aciduria", "aspartic aciduria" ], "alt_id": [], "def": "A increased concentration of aspartic acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033096" ], "is_obsolete": "", "replace_id": "" }, "HP:0032403": { "name": [ "asparaginuria", "asparaginuria" ], "alt_id": [], "def": "An increased concentration of asparagine in the urine.", "synonym": [ [ "increased level of asparagine in urine", "increase level of asparagine in urine" ], [ "increased urine asparagine level", "increase urine asparagine level" ] ], "xref": [], "is_a": [ "HP:0033096" ], "is_obsolete": "", "replace_id": "" }, "HP:0032404": { "name": [ "testicular mass", "testicular mass" ], "alt_id": [], "def": "An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer.", "synonym": [], "xref": [], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0032405": { "name": [ "increased urinary phosphoserine level", "increase urinary phosphoserine level" ], "alt_id": [], "def": "An increased level of phosphoserine in the urine.", "synonym": [ [ "increased level of phosphoserine in urine", "increase level of phosphoserine in urine" ] ], "xref": [], "is_a": [ "HP:0033097" ], "is_obsolete": "", "replace_id": "" }, "HP:0032406": { "name": [ "unilateral perisylvian polymicrogyria", "unilateral perisylvian polymicrogyria" ], "alt_id": [], "def": "A type of perisylvian polymicrogyria that largely affects one side of the brain.", "synonym": [], "xref": [], "is_a": [ "HP:0006927", "HP:0012650" ], "is_obsolete": "", "replace_id": "" }, "HP:0032407": { "name": [ "bilateral perisylvian polymicrogyria", "bilateral perisylvian polymicrogyria" ], "alt_id": [], "def": "A type of perisylvian polymicrogyria that affects both sides of the brain.", "synonym": [], "xref": [], "is_a": [ "HP:0012650", "HP:0025646" ], "is_obsolete": "", "replace_id": "" }, "HP:0032408": { "name": [ "breast mass", "breast mass" ], "alt_id": [], "def": "A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician.", "synonym": [ [ "breast lump", "breast lump" ] ], "xref": [], "is_a": [ "HP:0031093" ], "is_obsolete": "", "replace_id": "" }, "HP:0032409": { "name": [ "subcortical band heterotopia", "subcortical band heterotopia" ], "alt_id": [], "def": "A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum.", "synonym": [], "xref": [], "is_a": [ "HP:0001339", "HP:0032391" ], "is_obsolete": "", "replace_id": "" }, "HP:0032410": { "name": [ "bilateral generalized polymicrogyria", "bilateral generalize polymicrogyria" ], "alt_id": [], "def": "Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter.", "synonym": [ [ "bilateral generalised polymicrogyria", "bilateral generalise polymicrogyria" ], [ "diffuse polymicrogyria", "diffuse polymicrogyria" ] ], "xref": [], "is_a": [ "HP:0025646" ], "is_obsolete": "", "replace_id": "" }, "HP:0032411": { "name": [ "posterior predominant subcortical band heterotopia", "posterior predominant subcortical band heterotopia" ], "alt_id": [], "def": "Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex.", "synonym": [ [ "occipital subcortical band heterotopia", "occipital subcortical band heterotopia" ], [ "subcortical band heterotopia posterior predominant", "subcortical band heterotopia posterior predominant" ] ], "xref": [], "is_a": [ "HP:0032409" ], "is_obsolete": "", "replace_id": "" }, "HP:0032412": { "name": [ "anterior predominant subcortical band heterotopia", "anterior predominant subcortical band heterotopia" ], "alt_id": [], "def": "Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes.", "synonym": [ [ "frontal subcortical band heterotopia", "frontal subcortical band heterotopia" ], [ "subcortical band heterotopia anterior predominant", "subcortical band heterotopia anterior predominant" ] ], "xref": [], "is_a": [ "HP:0032409" ], "is_obsolete": "", "replace_id": "" }, "HP:0032413": { "name": [ "diffuse subcortical band heterotopia", "diffuse subcortical band heterotopia" ], "alt_id": [], "def": "Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain.", "synonym": [ [ "subcortical band heterotopia diffuse", "subcortical band heterotopia diffuse" ] ], "xref": [], "is_a": [ "HP:0032409" ], "is_obsolete": "", "replace_id": "" }, "HP:0032414": { "name": [ "hydroxylysinuria", "hydroxylysinuria" ], "alt_id": [], "def": "The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens.", "synonym": [], "xref": [], "is_a": [ "HP:0033098" ], "is_obsolete": "", "replace_id": "" }, "HP:0032415": { "name": [ "parasagittal parieto - occipital polymicrogyria", "parasagittal parieto - occipital polymicrogyria" ], "alt_id": [], "def": "Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.", "synonym": [], "xref": [], "is_a": [ "HP:0002126" ], "is_obsolete": "", "replace_id": "" }, "HP:0032416": { "name": [ "retinal microaneurysm", "retinal microaneurysm" ], "alt_id": [], "def": "A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells.", "synonym": [], "xref": [], "is_a": [ "HP:0008046" ], "is_obsolete": "", "replace_id": "" }, "HP:0032417": { "name": [ "periglomerular fibrosis", "periglomerular fibrosis" ], "alt_id": [], "def": "Circumferential fibrosis in the interstitium surrounding Bowman's capsule", "synonym": [ [ "periglomerular fibrotic thickening", "periglomerular fibrotic thickening" ] ], "xref": [ "PMID:32866505" ], "is_a": [ "HP:0031264" ], "is_obsolete": "", "replace_id": "" }, "HP:0032418": { "name": [ "abnormal hdl subfraction concentration", "abnormal hdl subfraction concentration" ], "alt_id": [], "def": "An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm).", "synonym": [], "xref": [], "is_a": [ "HP:0031888" ], "is_obsolete": "", "replace_id": "" }, "HP:0032419": { "name": [ "abnormal hdl2a concentration", "abnormal hdl2a concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.", "synonym": [], "xref": [], "is_a": [ "HP:0032418" ], "is_obsolete": "", "replace_id": "" }, "HP:0032420": { "name": [ "increased hdl2a concentration", "increase hdl2a concentration" ], "alt_id": [], "def": "An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.", "synonym": [], "xref": [], "is_a": [ "HP:0032419" ], "is_obsolete": "", "replace_id": "" }, "HP:0032421": { "name": [ "decreased hdl2a concentration", "decrease hdl2a concentration" ], "alt_id": [], "def": "A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.", "synonym": [], "xref": [], "is_a": [ "HP:0032419" ], "is_obsolete": "", "replace_id": "" }, "HP:0032422": { "name": [ "abnormal hdl2b concentration", "abnormal hdl2b concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm.", "synonym": [], "xref": [], "is_a": [ "HP:0032418" ], "is_obsolete": "", "replace_id": "" }, "HP:0032423": { "name": [ "decreased hdl2b concentration", "decrease hdl2b concentration" ], "alt_id": [], "def": "A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.", "synonym": [], "xref": [], "is_a": [ "HP:0032422" ], "is_obsolete": "", "replace_id": "" }, "HP:0032424": { "name": [ "increased hdl2b concentration", "increase hdl2b concentration" ], "alt_id": [], "def": "An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.", "synonym": [], "xref": [], "is_a": [ "HP:0032422" ], "is_obsolete": "", "replace_id": "" }, "HP:0032425": { "name": [ "abnormal hdl3a concentration", "abnormal hdl3a concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.", "synonym": [], "xref": [], "is_a": [ "HP:0032418" ], "is_obsolete": "", "replace_id": "" }, "HP:0032426": { "name": [ "abnormal hdl3b concentration", "abnormal hdl3b concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.", "synonym": [], "xref": [], "is_a": [ "HP:0032418" ], "is_obsolete": "", "replace_id": "" }, "HP:0032427": { "name": [ "abnormal hdl3c concentration", "abnormal hdl3c concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.", "synonym": [], "xref": [], "is_a": [ "HP:0032418" ], "is_obsolete": "", "replace_id": "" }, "HP:0032428": { "name": [ "increased hdl3a concentration", "increase hdl3a concentration" ], "alt_id": [], "def": "An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.", "synonym": [], "xref": [], "is_a": [ "HP:0032425" ], "is_obsolete": "", "replace_id": "" }, "HP:0032429": { "name": [ "decreased hdl3a concentration", "decrease hdl3a concentration" ], "alt_id": [], "def": "A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.", "synonym": [], "xref": [], "is_a": [ "HP:0032425" ], "is_obsolete": "", "replace_id": "" }, "HP:0032430": { "name": [ "increased hdl3b concentration", "increase hdl3b concentration" ], "alt_id": [], "def": "An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.", "synonym": [], "xref": [], "is_a": [ "HP:0032426" ], "is_obsolete": "", "replace_id": "" }, "HP:0032431": { "name": [ "decreased hdl3b concentration", "decrease hdl3b concentration" ], "alt_id": [], "def": "A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.", "synonym": [], "xref": [], "is_a": [ "HP:0032426" ], "is_obsolete": "", "replace_id": "" }, "HP:0032432": { "name": [ "increased hdl3c concentration", "increase hdl3c concentration" ], "alt_id": [], "def": "An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.", "synonym": [], "xref": [], "is_a": [ "HP:0032427" ], "is_obsolete": "", "replace_id": "" }, "HP:0032433": { "name": [ "decreased hdl3c concentration", "decrease hdl3c concentration" ], "alt_id": [], "def": "A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.", "synonym": [], "xref": [], "is_a": [ "HP:0032427" ], "is_obsolete": "", "replace_id": "" }, "HP:0032434": { "name": [ "delayed umbilical cord separation", "delay umbilical cord separation" ], "alt_id": [], "def": "Separation of the umbilical cord occurs at an abnormally late timepoint.", "synonym": [ [ "delayed separation of umbilical cord", "delay separation of umbilical cord" ] ], "xref": [], "is_a": [ "HP:0010881" ], "is_obsolete": "", "replace_id": "" }, "HP:0032435": { "name": [ "neonatal omphalitis", "neonatal omphalitis" ], "alt_id": [], "def": "An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.", "synonym": [ [ "omphalitis", "omphalitis" ] ], "xref": [], "is_a": [ "HP:0010881" ], "is_obsolete": "", "replace_id": "" }, "HP:0032436": { "name": [ "abnormal c - reactive protein level", "abnormal c - reactive protein level" ], "alt_id": [], "def": "Any deviation from the normal concentration of C-reactive protein in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0032437": { "name": [ "reduced c - reactive protein level", "reduce c - reactive protein level" ], "alt_id": [], "def": "An abnormal decrease of the C-reactive protein level in serum.", "synonym": [], "xref": [], "is_a": [ "HP:0032436" ], "is_obsolete": "", "replace_id": "" }, "HP:0032438": { "name": [ "platelet anisocytosis", "platelet anisocytosis" ], "alt_id": [], "def": "Abnormally increased variability in the size of platelets.", "synonym": [], "xref": [], "is_a": [ "HP:0011875" ], "is_obsolete": "", "replace_id": "" }, "HP:0032439": { "name": [ "airborn particle hypersensitivity", "airborn particle hypersensitivity" ], "alt_id": [], "def": "An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen.", "synonym": [], "xref": [], "is_a": [ "HP:0100326" ], "is_obsolete": "", "replace_id": "" }, "HP:0032440": { "name": [ "blood group b", "blood group b" ], "alt_id": [], "def": "ABO phenotype B, corresponding to the genotype BO or BB.", "synonym": [], "xref": [], "is_a": [ "HP:0032224" ], "is_obsolete": "", "replace_id": "" }, "HP:0032441": { "name": [ "blood group ab", "blood group ab" ], "alt_id": [], "def": "ABO phenotype AB, corresponding to the genotype AB.", "synonym": [], "xref": [], "is_a": [ "HP:0032224" ], "is_obsolete": "", "replace_id": "" }, "HP:0032442": { "name": [ "blood group o", "blood group o" ], "alt_id": [], "def": "ABO phenotype O, corresponding to the genotype OO.", "synonym": [], "xref": [], "is_a": [ "HP:0032224" ], "is_obsolete": "", "replace_id": "" }, "HP:0032443": { "name": [ "past medical history", "past medical history" ], "alt_id": [], "def": "In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc.", "synonym": [], "xref": [], "is_a": [ "HP:0000001" ], "is_obsolete": "", "replace_id": "" }, "HP:0032444": { "name": [ "status post organ transplantation", "status post organ transplantation" ], "alt_id": [], "def": "The affected individual has received an organ transplant previous to the current medical encounter.", "synonym": [ [ "s / p organ transplantation", "s / p organ transplantation" ] ], "xref": [], "is_a": [ "HP:0032443" ], "is_obsolete": "", "replace_id": "" }, "HP:0032445": { "name": [ "pulmonary cyst", "pulmonary cyst" ], "alt_id": [], "def": "A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid.", "synonym": [ [ "lung cyst", "lung cyst" ] ], "xref": [], "is_a": [ "HP:0002088" ], "is_obsolete": "", "replace_id": "" }, "HP:0032446": { "name": [ "pulmonary bulla", "pulmonary bulla" ], "alt_id": [], "def": "Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema.", "synonym": [ [ "pulmonary bullae", "pulmonary bulla" ] ], "xref": [], "is_a": [ "HP:0002097" ], "is_obsolete": "", "replace_id": "" }, "HP:0032447": { "name": [ "pulmonary bleb", "pulmonary bleb" ], "alt_id": [], "def": "A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura.", "synonym": [], "xref": [], "is_a": [ "HP:0002097" ], "is_obsolete": "", "replace_id": "" }, "HP:0032448": { "name": [ "achlorhydria", "achlorhydria" ], "alt_id": [], "def": "A condition in which production of hydrochloric acid in the stomach is absent.", "synonym": [], "xref": [], "is_a": [ "HP:0012719" ], "is_obsolete": "", "replace_id": "" }, "HP:0032449": { "name": [ "abnormal dermoepidermal hemidesmosome morphology", "abnormal dermoepidermal hemidesmosome morphology" ], "alt_id": [], "def": "An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.", "synonym": [], "xref": [], "is_a": [ "HP:0031538" ], "is_obsolete": "", "replace_id": "" }, "HP:0032450": { "name": [ "positive blood arsenic test", "positive blood arsenic test" ], "alt_id": [], "def": "Detection of arsenic in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0410172" ], "is_obsolete": "", "replace_id": "" }, "HP:0032451": { "name": [ "oral melanotic macule", "oral melanotic macule" ], "alt_id": [], "def": "Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented.", "synonym": [ [ "melanotic macule of oral mucosa", "melanotic macule of oral mucosa" ] ], "xref": [], "is_a": [ "HP:0100669" ], "is_obsolete": "", "replace_id": "" }, "HP:0032452": { "name": [ "oral melanoacanthoma", "oral melanoacanthoma" ], "alt_id": [], "def": "Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions.", "synonym": [], "xref": [], "is_a": [ "HP:0100669" ], "is_obsolete": "", "replace_id": "" }, "HP:0032453": { "name": [ "abnormal lip pigmentation", "abnormal lip pigmentation" ], "alt_id": [], "def": "Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.", "synonym": [], "xref": [], "is_a": [ "HP:0000159" ], "is_obsolete": "", "replace_id": "" }, "HP:0032454": { "name": [ "labial melanotic macule", "labial melanotic macule" ], "alt_id": [], "def": "Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.", "synonym": [ [ "labial melanotic freckle", "labial melanotic freckle" ] ], "xref": [], "is_a": [ "HP:0032453" ], "is_obsolete": "", "replace_id": "" }, "HP:0032455": { "name": [ "reduced granulocyte cd18 level", "reduce granulocyte cd18 level" ], "alt_id": [], "def": "Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry.", "synonym": [], "xref": [], "is_a": [ "HP:0031553" ], "is_obsolete": "", "replace_id": "" }, "HP:0032456": { "name": [ "unlayered lissencephaly", "unlayered lissencephaly" ], "alt_id": [], "def": "A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter.", "synonym": [], "xref": [], "is_a": [ "HP:0001339" ], "is_obsolete": "", "replace_id": "" }, "HP:0032457": { "name": [ "2 - 3 - layered lissencephaly", "2 - 3 - layer lissencephaly" ], "alt_id": [], "def": "Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity.", "synonym": [], "xref": [], "is_a": [ "HP:0001339" ], "is_obsolete": "", "replace_id": "" }, "HP:0032458": { "name": [ "narrowing of medullary canal", "narrowing of medullary canal" ], "alt_id": [], "def": "A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located.", "synonym": [ [ "medullary cavity obliteration", "medullary cavity obliteration" ], [ "narrowing of bone marrow canal", "narrowing of bone marrow canal" ], [ "narrowing of bone medullary canal", "narrowing of bone medullary canal" ], [ "narrowing of the marrow cavity", "narrowing of the marrow cavity" ] ], "xref": [], "is_a": [ "HP:0011842" ], "is_obsolete": "", "replace_id": "" }, "HP:0032459": { "name": [ "abnormal phosphoribosylpyrophosphate synthetase level", "abnormal phosphoribosylpyrophosphate synthetase level" ], "alt_id": [], "def": "Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.", "synonym": [], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0032460": { "name": [ "decreased phosphoribosylpyrophosphate synthetase level", "decrease phosphoribosylpyrophosphate synthetase level" ], "alt_id": [], "def": "Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.", "synonym": [], "xref": [], "is_a": [ "HP:0032459" ], "is_obsolete": "", "replace_id": "" }, "HP:0032461": { "name": [ "obsolete tiger - tail banding", "obsolete tiger - tail banding" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0045055" }, "HP:0032462": { "name": [ "increased circulating palmitate level", "increase circulate palmitate level" ], "alt_id": [], "def": "An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0003455" ], "is_obsolete": "", "replace_id": "" }, "HP:0032463": { "name": [ "reduced circulating fibronectin level", "reduce circulate fibronectin level" ], "alt_id": [], "def": "A reduction below the normal concentration of fibronectin the the blood circulation.", "synonym": [ [ "decreased plasma fibronectin", "decrease plasma fibronectin" ] ], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0032464": { "name": [ "ureteral hypoplasia", "ureteral hypoplasia" ], "alt_id": [], "def": "Underdevelopment of the ureter.", "synonym": [ [ "hypoplasia of the ureter", "hypoplasia of the ureter" ], [ "ureter hypoplasia", "ureter hypoplasia" ] ], "xref": [], "is_a": [ "HP:0025633" ], "is_obsolete": "", "replace_id": "" }, "HP:0032465": { "name": [ "bladder trabeculation", "bladder trabeculation" ], "alt_id": [], "def": "Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface.", "synonym": [ [ "trabecular bladder", "trabecular bladder" ] ], "xref": [], "is_a": [ "HP:0025487" ], "is_obsolete": "", "replace_id": "" }, "HP:0032466": { "name": [ "aplasia of the olfactory bulb", "aplasia of the olfactory bulb" ], "alt_id": [], "def": "Lack of formation (congenital absence) of the olfactory bulb.", "synonym": [ [ "aplastic olfactory bulb", "aplastic olfactory bulb" ], [ "olfactory bulb aplasia", "olfactory bulb aplasia" ] ], "xref": [], "is_a": [ "HP:0040327" ], "is_obsolete": "", "replace_id": "" }, "HP:0032467": { "name": [ "past obstetric history", "past obstetric history" ], "alt_id": [], "def": "Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies.", "synonym": [ [ "maternal medical history", "maternal medical history" ] ], "xref": [], "is_a": [ "HP:0032443" ], "is_obsolete": "", "replace_id": "" }, "HP:0032468": { "name": [ "history of stillbirth", "history of stillbirth" ], "alt_id": [], "def": "One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation).", "synonym": [], "xref": [], "is_a": [ "HP:0032467" ], "is_obsolete": "", "replace_id": "" }, "HP:0032469": { "name": [ "anti - asialoglycoprotein receptor antibody positivity", "anti - asialoglycoprotein receptor antibody positivity" ], "alt_id": [], "def": "Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0032470": { "name": [ "monilethrix", "monilethrix" ], "alt_id": [], "def": "The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture.", "synonym": [], "xref": [], "is_a": [ "HP:0003328" ], "is_obsolete": "", "replace_id": "" }, "HP:0032471": { "name": [ "focal polymicrogyria", "focal polymicrogyria" ], "alt_id": [], "def": "Polymicrogyria affecting one or multiple small areas of the cerebral cortex.", "synonym": [], "xref": [], "is_a": [ "HP:0002126" ], "is_obsolete": "", "replace_id": "" }, "HP:0032472": { "name": [ "abnormal urine urobilinogen level", "abnormal urine urobilinogen level" ], "alt_id": [], "def": "An abnormal concentration of urobilinogen in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0032473": { "name": [ "decreased urine urobilinogen", "decrease urine urobilinogen" ], "alt_id": [], "def": "An abnormally reduced concentration of urobilinogen in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0032472" ], "is_obsolete": "", "replace_id": "" }, "HP:0032475": { "name": [ "6 - layered lissencephaly", "6 - layer lissencephaly" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0001339" ], "is_obsolete": "", "replace_id": "" }, "HP:0032476": { "name": [ "abnormal circulating vitamin b6 level", "abnormal circulate vitamin b6 level" ], "alt_id": [], "def": "An abnormal concentration of vitamin B6 in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0004340" ], "is_obsolete": "", "replace_id": "" }, "HP:0032477": { "name": [ "elevated circulating vitamin b6 level", "elevate circulate vitamin b6 level" ], "alt_id": [], "def": "An abnormally increased concentration of vitamin B6 in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0032476" ], "is_obsolete": "", "replace_id": "" }, "HP:0032478": { "name": [ "lateral spinal meningocele", "lateral spinal meningocele" ], "alt_id": [], "def": "Protrusion of the arachnoid and dura through spinal foramina.", "synonym": [], "xref": [], "is_a": [ "HP:0002435" ], "is_obsolete": "", "replace_id": "" }, "HP:0032479": { "name": [ "preimplantation lethality", "preimplantation lethality" ], "alt_id": [], "def": "It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development.", "synonym": [ [ "preimplantation embryonic lethality", "preimplantation embryonic lethality" ] ], "xref": [], "is_a": [ "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0032480": { "name": [ "beta - aminoisobutyric aciduria", "beta - aminoisobutyric aciduria" ], "alt_id": [], "def": "An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine.", "synonym": [], "xref": [], "is_a": [ "HP:0033098" ], "is_obsolete": "", "replace_id": "" }, "HP:0032481": { "name": [ "abnormal pituitary glycoprotein hormone alpha subunit level", "abnormal pituitary glycoprotein hormone alpha subunit level" ], "alt_id": [], "def": "Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).", "synonym": [], "xref": [], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0032482": { "name": [ "decreased pituitary glycoprotein hormone alpha subunit level", "decrease pituitary glycoprotein hormone alpha subunit level" ], "alt_id": [], "def": "An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).", "synonym": [ [ "decreased pituitary glycoprotein alpha subunit level", "decrease pituitary glycoprotein alpha subunit level" ], [ "decreased pituitary glycoprotein polypeptide alpha subunit level", "decrease pituitary glycoprotein polypeptide alpha subunit level" ] ], "xref": [], "is_a": [ "HP:0032481" ], "is_obsolete": "", "replace_id": "" }, "HP:0032483": { "name": [ "obsolete abnormal fecal test result", "obsolete abnormal fecal test result" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0031685" }, "HP:0032484": { "name": [ "elevated fecal sodium", "elevated fecal sodium" ], "alt_id": [], "def": "An elevated concentration of sodium in feces.", "synonym": [ [ "elevated faecal sodium", "elevated faecal sodium" ] ], "xref": [], "is_a": [ "HP:0031685" ], "is_obsolete": "", "replace_id": "" }, "HP:0032485": { "name": [ "abnormal fecal osmolality", "abnormal fecal osmolality" ], "alt_id": [], "def": "Abnormal concentration of feces as assessed by the total number of solute particles per kilogram.", "synonym": [ [ "abnormal faecal osmolality", "abnormal faecal osmolality" ] ], "xref": [], "is_a": [ "HP:0031685" ], "is_obsolete": "", "replace_id": "" }, "HP:0032486": { "name": [ "elevated fecal osmolality", "elevated fecal osmolality" ], "alt_id": [], "def": "Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram.", "synonym": [ [ "elevated faecal osmolality", "elevated faecal osmolality" ] ], "xref": [], "is_a": [ "HP:0032485" ], "is_obsolete": "", "replace_id": "" }, "HP:0032487": { "name": [ "reduced fecal osmolality", "reduce fecal osmolality" ], "alt_id": [], "def": "Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram.", "synonym": [ [ "reduced faecal osmolality", "reduce faecal osmolality" ] ], "xref": [], "is_a": [ "HP:0032485" ], "is_obsolete": "", "replace_id": "" }, "HP:0032488": { "name": [ "abnormal fecal ph", "abnormal fecal ph" ], "alt_id": [], "def": "Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline.", "synonym": [ [ "abnormal faecal ph", "abnormal faecal ph" ] ], "xref": [], "is_a": [ "HP:0031685" ], "is_obsolete": "", "replace_id": "" }, "HP:0032489": { "name": [ "elevated fecal ph", "elevated fecal ph" ], "alt_id": [], "def": "Abnormally high fecal pH, i.e., abnormal alkalinity of feces.", "synonym": [ [ "elevated faecal ph", "elevated faecal ph" ] ], "xref": [], "is_a": [ "HP:0032488" ], "is_obsolete": "", "replace_id": "" }, "HP:0032490": { "name": [ "decreased fecal ph", "decreased fecal ph" ], "alt_id": [], "def": "Abnormally low fecal pH, i.e., abnormal acidity of feces.", "synonym": [ [ "decreased faecal ph", "decreased faecal ph" ] ], "xref": [], "is_a": [ "HP:0032488" ], "is_obsolete": "", "replace_id": "" }, "HP:0032491": { "name": [ "increased circulating argininosuccinic acid", "increase circulate argininosuccinic acid" ], "alt_id": [], "def": "An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033109" ], "is_obsolete": "", "replace_id": "" }, "HP:0032492": { "name": [ "anti - myelin oligodendrocyte glycoprotein antibody positivity", "anti - myelin oligodendrocyte glycoprotein antibody positivity" ], "alt_id": [], "def": "Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.", "synonym": [ [ "anti - mog antibody positivity", "anti - mog antibody positivity" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0032493": { "name": [ "increased circulating trypsinogen", "increase circulating trypsinogen" ], "alt_id": [], "def": "An abnormally high concentration of trypsinogen in the blood circulation.", "synonym": [ [ "increased immunoreactive trypsinogen", "increase immunoreactive trypsinogen" ] ], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0032495": { "name": [ "abnormal terminal : vellus ratio", "abnormal terminal : vellus ratio" ], "alt_id": [], "def": "A deviation from the normal proportion of terminal to vellus hairs.", "synonym": [], "xref": [], "is_a": [ "HP:0003328" ], "is_obsolete": "", "replace_id": "" }, "HP:0032496": { "name": [ "elevated terminal : vellus ratio", "elevate terminal : vellus ratio" ], "alt_id": [], "def": "An increased proportion of terminal hairs compared to vellus hairs.", "synonym": [], "xref": [], "is_a": [ "HP:0032495" ], "is_obsolete": "", "replace_id": "" }, "HP:0032497": { "name": [ "reduced terminal : vellus ratio", "reduce terminal : vellus ratio" ], "alt_id": [], "def": "A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.", "synonym": [], "xref": [], "is_a": [ "HP:0032495" ], "is_obsolete": "", "replace_id": "" }, "HP:0032499": { "name": [ "giant neutrophil granules", "giant neutrophil granule" ], "alt_id": [], "def": "The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation.", "synonym": [], "xref": [], "is_a": [ "HP:0011992" ], "is_obsolete": "", "replace_id": "" }, "HP:0032500": { "name": [ "exacerbated by tobacco use", "exacerbate by tobacco use" ], "alt_id": [], "def": "Applied to a sign or symptom that is worsened by smoking tobacco products.", "synonym": [ [ "aggravated by tobacco use", "aggravate by tobacco use" ], [ "exacerbated by smoking", "exacerbate by smoke" ], [ "smoking or tobacco use exacerbates symptoms", "smoking or tobacco use exacerbate symptom" ] ], "xref": [], "is_a": [ "HP:0025285" ], "is_obsolete": "", "replace_id": "" }, "HP:0032501": { "name": [ "exacerbated by contraceptive medication", "exacerbate by contraceptive medication" ], "alt_id": [], "def": "Applied to a sign or symptom that is worsened by taking contraceptive medication.", "synonym": [ [ "contraceptive pills aggravate symptoms", "contraceptive pill aggravate symptom" ] ], "xref": [], "is_a": [ "HP:0025285" ], "is_obsolete": "", "replace_id": "" }, "HP:0032502": { "name": [ "exacerbated by barbiturate medication", "exacerbate by barbiturate medication" ], "alt_id": [], "def": "Applied to a sign or symptom that is worsened by taking barbituates.", "synonym": [ [ "barbiturates produce worsening", "barbiturate produce worsen" ] ], "xref": [], "is_a": [ "HP:0025285" ], "is_obsolete": "", "replace_id": "" }, "HP:0032503": { "name": [ "ameliorated by ethanol ingestion", "ameliorate by ethanol ingestion" ], "alt_id": [], "def": "Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol).", "synonym": [ [ "ethanol reduces manifestations", "ethanol reduces manifestation" ] ], "xref": [], "is_a": [ "HP:0025254" ], "is_obsolete": "", "replace_id": "" }, "HP:0032504": { "name": [ "lhermitte 's sign", "lhermitte 's sign" ], "alt_id": [], "def": "An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk.", "synonym": [ [ "barber chair phenomenon", "barber chair phenomenon" ], [ "lhermitte 's phenomenon", "lhermitte 's phenomenon" ] ], "xref": [], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0032505": { "name": [ "hydrophobia", "hydrophobia" ], "alt_id": [], "def": "Pharyngeal spasms provoked by an attempt to drink.", "synonym": [], "xref": [], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0032506": { "name": [ "alien limb phenomenon", "alien limb phenomenon" ], "alt_id": [], "def": "Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb.", "synonym": [], "xref": [], "is_a": [ "HP:0004305" ], "is_obsolete": "", "replace_id": "" }, "HP:0032507": { "name": [ "labiomental fasciculations", "labiomental fasciculation" ], "alt_id": [], "def": "Fasciculations affecting the tongue muscle and the musculature of the chin.", "synonym": [ [ "fasciculations , labiomental", "fasciculation , labiomental" ] ], "xref": [], "is_a": [ "HP:0007089" ], "is_obsolete": "", "replace_id": "" }, "HP:0032508": { "name": [ "polyembolokoilamania", "polyembolokoilamania" ], "alt_id": [], "def": "Habitual insertion of foreign bodies into bodily orifices.", "synonym": [], "xref": [], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0032509": { "name": [ "onychotillomania", "onychotillomania" ], "alt_id": [], "def": "Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.", "synonym": [], "xref": [], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0032510": { "name": [ "tendon pain", "tendon pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon.", "synonym": [], "xref": [], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0032511": { "name": [ "superiorly positioned umbilicus", "superiorly position umbilicus" ], "alt_id": [], "def": "The position of the umbilicus (belly button) is abnormally high (superior).", "synonym": [], "xref": [], "is_a": [ "HP:0001551" ], "is_obsolete": "", "replace_id": "" }, "HP:0032513": { "name": [ "four - vessel umbilical cord", "four - vessel umbilical cord" ], "alt_id": [], "def": "Four-vessel umbilical cord containing two arteries and two veins.", "synonym": [], "xref": [], "is_a": [ "HP:0011403" ], "is_obsolete": "", "replace_id": "" }, "HP:0032514": { "name": [ "duplicated lacrimal punctum", "duplicate lacrimal punctum" ], "alt_id": [], "def": "A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face.", "synonym": [ [ "double lacrimal puncta", "double lacrimal puncta" ], [ "lacrimal punctum , duplication", "lacrimal punctum , duplication" ] ], "xref": [], "is_a": [ "HP:0011479" ], "is_obsolete": "", "replace_id": "" }, "HP:0032515": { "name": [ "deep dermatophytosis", "deep dermatophytosis" ], "alt_id": [], "def": "A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements.", "synonym": [], "xref": [], "is_a": [ "HP:0032516" ], "is_obsolete": "", "replace_id": "" }, "HP:0032516": { "name": [ "invasive dermatophyte infection", "invasive dermatophyte infection" ], "alt_id": [], "def": "Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails.", "synonym": [], "xref": [], "is_a": [ "HP:0032162" ], "is_obsolete": "", "replace_id": "" }, "HP:0032517": { "name": [ "majocchi 's granuloma", "majocchi 's granuloma" ], "alt_id": [], "def": "Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles.", "synonym": [], "xref": [], "is_a": [ "HP:0032516" ], "is_obsolete": "", "replace_id": "" }, "HP:0032518": { "name": [ "disseminated dermatophytosis", "disseminate dermatophytosis" ], "alt_id": [], "def": "A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs.", "synonym": [], "xref": [], "is_a": [ "HP:0032516" ], "is_obsolete": "", "replace_id": "" }, "HP:0032519": { "name": [ "increased burr cell count", "increase burr cell count" ], "alt_id": [], "def": "Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals.", "synonym": [], "xref": [], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0032520": { "name": [ "masseter muscular weakness", "masseter muscular weakness" ], "alt_id": [], "def": "Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw.", "synonym": [], "xref": [], "is_a": [ "HP:0031815" ], "is_obsolete": "", "replace_id": "" }, "HP:0032521": { "name": [ "self hugging", "self hugging" ], "alt_id": [], "def": "Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting.", "synonym": [ [ "spasmodic upper - body squeeze", "spasmodic upper - body squeeze" ] ], "xref": [], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0032522": { "name": [ "ameliorated by immunosuppresion", "ameliorate by immunosuppresion" ], "alt_id": [], "def": "Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication.", "synonym": [ [ "immunosupressive therapy improves condition", "immunosupressive therapy improve condition" ] ], "xref": [], "is_a": [ "HP:0025254" ], "is_obsolete": "", "replace_id": "" }, "HP:0032523": { "name": [ "tendon thickening", "tendon thicken" ], "alt_id": [], "def": "An abnormal increase in the thickness (diameter) of a tendon.", "synonym": [], "xref": [], "is_a": [ "HP:0100261" ], "is_obsolete": "", "replace_id": "" }, "HP:0032524": { "name": [ "long thumb", "long thumb" ], "alt_id": [], "def": "Length of the thumb is greater than normal.", "synonym": [], "xref": [], "is_a": [ "HP:0001172" ], "is_obsolete": "", "replace_id": "" }, "HP:0032525": { "name": [ "aggravated by acetylcholinesterase inhibitor", "aggravate by acetylcholinesterase inhibitor" ], "alt_id": [], "def": "Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon).", "synonym": [], "xref": [], "is_a": [ "HP:0025285" ], "is_obsolete": "", "replace_id": "" }, "HP:0032526": { "name": [ "ameliorated by acetylcholinesterase inhibitor", "ameliorate by acetylcholinesterase inhibitor" ], "alt_id": [], "def": "Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon.", "synonym": [], "xref": [], "is_a": [ "HP:0025254" ], "is_obsolete": "", "replace_id": "" }, "HP:0032527": { "name": [ "inferiorly positioned umbilicus", "inferiorly position umbilicus" ], "alt_id": [], "def": "The position of the umbilicus (belly button) is abnormally low (inferior).", "synonym": [ [ "low set umbilicus", "low set umbilicus" ], [ "low - set umbilicus", "low - set umbilicus" ] ], "xref": [], "is_a": [ "HP:0001551" ], "is_obsolete": "", "replace_id": "" }, "HP:0032528": { "name": [ "elevated urinary 4 - hydroxybutyric acid", "elevate urinary 4 - hydroxybutyric acid" ], "alt_id": [], "def": "An increased amount of 4-hydroxybutyric acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033303" ], "is_obsolete": "", "replace_id": "" }, "HP:0032529": { "name": [ "obsolete elevated circulating gamma - aminobutyric acid concentration", "obsolete elevate circulate gamma - aminobutyric acid concentration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0410053" }, "HP:0032530": { "name": [ "decreased succinic semialdehyde dehydrogenase level", "decrease succinic semialdehyde dehydrogenase level" ], "alt_id": [], "def": "Reduced level of succinic semialdehyde dehydrogenase (SSADH).", "synonym": [], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0032531": { "name": [ "elevated csf gamma - aminobutyric acid concentration", "elevate csf gamma - aminobutyric acid concentration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0500183" ], "is_obsolete": "", "replace_id": "" }, "HP:0032532": { "name": [ "elevated csf 4 - hydroxybutyric acid concentration", "elevate csf 4 - hydroxybutyric acid concentration" ], "alt_id": [], "def": "Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF).", "synonym": [ [ "elevated csf gamma - hydroxybutyric acid", "elevate csf gamma - hydroxybutyric acid" ], [ "elevated csf ghb levels", "elevate csf ghb level" ] ], "xref": [], "is_a": [ "HP:0500183" ], "is_obsolete": "", "replace_id": "" }, "HP:0032533": { "name": [ "elevated circulating acetone concentration", "elevate circulate acetone concentration" ], "alt_id": [], "def": "An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies.", "synonym": [], "xref": [], "is_a": [ "HP:0410175" ], "is_obsolete": "", "replace_id": "" }, "HP:0032534": { "name": [ "exacerbated by methylxanthine ingestion", "exacerbate by methylxanthine ingestion" ], "alt_id": [], "def": "Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate).", "synonym": [ [ "methylxanthines produce worsening", "methylxanthines produce worsen" ] ], "xref": [], "is_a": [ "HP:0025285" ], "is_obsolete": "", "replace_id": "" }, "HP:0032535": { "name": [ "cervical ( neck )", "cervical ( neck )" ], "alt_id": [], "def": "Applies to an abnormality that is situated in the neck.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0032536": { "name": [ "increased number of lymph nodes", "increased number of lymph node" ], "alt_id": [], "def": "An abnormally elevated number of lymph nodes in an anatomical region.", "synonym": [], "xref": [], "is_a": [ "HP:0002733" ], "is_obsolete": "", "replace_id": "" }, "HP:0032537": { "name": [ "delayed fracture healing", "delay fracture heal" ], "alt_id": [], "def": "A delay in healing of a fracture past the expected duration.", "synonym": [], "xref": [], "is_a": [ "HP:0011843" ], "is_obsolete": "", "replace_id": "" }, "HP:0032538": { "name": [ "pretibial dimple", "pretibial dimple" ], "alt_id": [], "def": "A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg.", "synonym": [], "xref": [], "is_a": [ "HP:0010781" ], "is_obsolete": "", "replace_id": "" }, "HP:0032539": { "name": [ "joint extensor surface localization", "joint extensor surface localization" ], "alt_id": [], "def": "Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0032540": { "name": [ "joint flexor surface localization", "joint flexor surface localization" ], "alt_id": [], "def": "Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed).", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0032541": { "name": [ "knuckle pad", "knuckle pad" ], "alt_id": [], "def": "Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern.", "synonym": [ [ "knuckle pads on dorsal aspect of finger joints", "knuckle pad on dorsal aspect of finger joint" ] ], "xref": [], "is_a": [ "HP:0011356" ], "is_obsolete": "", "replace_id": "" }, "HP:0032542": { "name": [ "exacerbated by pregnancy", "exacerbate by pregnancy" ], "alt_id": [], "def": "Applied to a sign or symptom that is worsened by being pregnant.", "synonym": [], "xref": [], "is_a": [ "HP:0025285" ], "is_obsolete": "", "replace_id": "" }, "HP:0032543": { "name": [ "lithoptysis", "lithoptysis" ], "alt_id": [], "def": "Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen.", "synonym": [], "xref": [], "is_a": [ "HP:0032016" ], "is_obsolete": "", "replace_id": "" }, "HP:0032544": { "name": [ "predominant small joint localization", "predominant small joint localization" ], "alt_id": [], "def": "Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0032545": { "name": [ "abdominal rigidity", "abdominal rigidity" ], "alt_id": [], "def": "Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area.", "synonym": [ [ "rigid abdomen", "rigid abdomen" ] ], "xref": [], "is_a": [ "HP:0002027" ], "is_obsolete": "", "replace_id": "" }, "HP:0032546": { "name": [ "abdominal guarding", "abdominal guarding" ], "alt_id": [], "def": "A voluntary contraction of the abdominal wall musculature to avoid pain.", "synonym": [], "xref": [], "is_a": [ "HP:0002027" ], "is_obsolete": "", "replace_id": "" }, "HP:0032547": { "name": [ "low intraocular pressure", "low intraocular pressure" ], "alt_id": [], "def": "An abnormal decrease of the pressure within the eye.", "synonym": [ [ "ocular hypotony", "ocular hypotony" ] ], "xref": [], "is_a": [ "HP:0012632" ], "is_obsolete": "", "replace_id": "" }, "HP:0032548": { "name": [ "increased placental thickness", "increase placental thickness" ], "alt_id": [], "def": "Abnormally elevated placental thickness.", "synonym": [ [ "placental thickness increased", "placental thickness increase" ] ], "xref": [], "is_a": [ "HP:0012767" ], "is_obsolete": "", "replace_id": "" }, "HP:0032549": { "name": [ "persistent asymmetrical tonic neck reflex", "persistent asymmetrical tonic neck reflex" ], "alt_id": [], "def": "Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers.", "synonym": [ [ "persistent fencer 's reflex", "persistent fencer 's reflex" ], [ "tonic neck reflex asymmetrical and persistent", "tonic neck reflex asymmetrical and persistent" ] ], "xref": [], "is_a": [ "HP:0002476" ], "is_obsolete": "", "replace_id": "" }, "HP:0032550": { "name": [ "howell - jolly bodies", "howell - jolly body" ], "alt_id": [], "def": "Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets.", "synonym": [], "xref": [], "is_a": [ "HP:0020080" ], "is_obsolete": "", "replace_id": "" }, "HP:0032551": { "name": [ "hemorrhoids", "hemorrhoid" ], "alt_id": [], "def": "Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain.", "synonym": [ [ "haemorrhoids", "haemorrhoid" ], [ "piles", "pile" ] ], "xref": [], "is_a": [ "HP:0002034" ], "is_obsolete": "", "replace_id": "" }, "HP:0032552": { "name": [ "abnormal pulse", "abnormal pulse" ], "alt_id": [], "def": "An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart.", "synonym": [], "xref": [], "is_a": [ "HP:0025323" ], "is_obsolete": "", "replace_id": "" }, "HP:0032553": { "name": [ "weak pulse", "weak pulse" ], "alt_id": [], "def": "A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.", "synonym": [], "xref": [], "is_a": [ "HP:0032552" ], "is_obsolete": "", "replace_id": "" }, "HP:0032554": { "name": [ "absent pulse", "absent pulse" ], "alt_id": [], "def": "The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination.", "synonym": [], "xref": [], "is_a": [ "HP:0032552" ], "is_obsolete": "", "replace_id": "" }, "HP:0032555": { "name": [ "bounding pulse", "bound pulse" ], "alt_id": [], "def": "Increased amplitude (strength) of the pulse.", "synonym": [], "xref": [], "is_a": [ "HP:0032552" ], "is_obsolete": "", "replace_id": "" }, "HP:0032556": { "name": [ "circumoral cyanosis", "circumoral cyanosis" ], "alt_id": [], "def": "Persistent blue color of the skin that surrounds the mouth.", "synonym": [ [ "bluish around mouth", "bluish around mouth" ] ], "xref": [], "is_a": [ "HP:0034031" ], "is_obsolete": "", "replace_id": "" }, "HP:0032557": { "name": [ "history of bone marrow transplant", "history of bone marrow transplant" ], "alt_id": [], "def": "A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor.", "synonym": [ [ "status post haematopoietic stem cell transplantation", "status post haematopoietic stem cell transplantation" ], [ "status post hematopoietic stem cell transplantation", "status post hematopoietic stem cell transplantation" ] ], "xref": [], "is_a": [ "HP:0032443" ], "is_obsolete": "", "replace_id": "" }, "HP:0032558": { "name": [ "absent sperm flagella", "absent sperm flagellum" ], "alt_id": [], "def": "Sperm cells lacking flagella.", "synonym": [], "xref": [], "is_a": [ "HP:0012868" ], "is_obsolete": "", "replace_id": "" }, "HP:0032559": { "name": [ "short sperm flagella", "short sperm flagellum" ], "alt_id": [], "def": "Sperm cells with abnormally short flagella.", "synonym": [], "xref": [], "is_a": [ "HP:0012868" ], "is_obsolete": "", "replace_id": "" }, "HP:0032560": { "name": [ "coiled sperm flagella", "coil sperm flagellum" ], "alt_id": [], "def": "Sperm cells whose flagella are twisted (coiled).", "synonym": [], "xref": [], "is_a": [ "HP:0012868" ], "is_obsolete": "", "replace_id": "" }, "HP:0032561": { "name": [ "microcephalic sperm head", "microcephalic sperm head" ], "alt_id": [], "def": "Decreased size of the head of sperm.", "synonym": [ [ "small - head sperm", "small - head sperm" ] ], "xref": [], "is_a": [ "HP:0012865" ], "is_obsolete": "", "replace_id": "" }, "HP:0032562": { "name": [ "tapered sperm head", "tapered sperm head" ], "alt_id": [], "def": "Sperm with cigar-shaped heads that gradually dimish in diameter (taper).", "synonym": [], "xref": [], "is_a": [ "HP:0012865" ], "is_obsolete": "", "replace_id": "" }, "HP:0032563": { "name": [ "dacryocytosis", "dacryocytosis" ], "alt_id": [], "def": "Presence of teardrop-shaped red blood cells.", "synonym": [ [ "dacryocytes", "dacryocytes" ], [ "tear - drop shaped erythrocytes", "tear - drop shape erythrocyte" ] ], "xref": [], "is_a": [ "HP:0004447" ], "is_obsolete": "", "replace_id": "" }, "HP:0032564": { "name": [ "ileitis", "ileitis" ], "alt_id": [], "def": "Inflammation of the ileum.", "synonym": [ [ "inflammation of the ileum", "inflammation of the ileum" ] ], "xref": [], "is_a": [ "HP:0001549" ], "is_obsolete": "", "replace_id": "" }, "HP:0032565": { "name": [ "vaginal mucosal ulceration", "vaginal mucosal ulceration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0000142" ], "is_obsolete": "", "replace_id": "" }, "HP:0032566": { "name": [ "oval macrocytosis", "oval macrocytosis" ], "alt_id": [], "def": "Enlarged, oval-shaped erythrocytes (red blood cells).", "synonym": [], "xref": [], "is_a": [ "HP:0004447" ], "is_obsolete": "", "replace_id": "" }, "HP:0032567": { "name": [ "lipiduria", "lipiduria" ], "alt_id": [], "def": "An increased lipid content in the urine.", "synonym": [ [ "urinary lipid excretion", "urinary lipid excretion" ] ], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0032568": { "name": [ "urinary mulberry cells", "urinary mulberry cell" ], "alt_id": [], "def": "Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance.", "synonym": [], "xref": [], "is_a": [ "HP:0012614" ], "is_obsolete": "", "replace_id": "" }, "HP:0032569": { "name": [ "temporal bossing", "temporal bossing" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0009911" ], "is_obsolete": "", "replace_id": "" }, "HP:0032570": { "name": [ "pontine ischemic lacunes", "pontine ischemic lacunes" ], "alt_id": [], "def": "Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.", "synonym": [ [ "pontine ischaemic lacunes", "pontine ischaemic lacunes" ] ], "xref": [], "is_a": [ "HP:0032325" ], "is_obsolete": "", "replace_id": "" }, "HP:0032571": { "name": [ "increased oocyte death", "increase oocyte death" ], "alt_id": [], "def": "An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization.", "synonym": [], "xref": [], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:0032572": { "name": [ "abnormal urinary nucleobase concentration", "abnormal urinary nucleobase concentration" ], "alt_id": [], "def": "A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U).", "synonym": [], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0032573": { "name": [ "elevated urinary cytidine", "elevate urinary cytidine" ], "alt_id": [], "def": "Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond.", "synonym": [], "xref": [], "is_a": [ "HP:0033162" ], "is_obsolete": "", "replace_id": "" }, "HP:0032574": { "name": [ "elevated uridine in urine", "elevate uridine in urine" ], "alt_id": [], "def": "Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond.", "synonym": [ [ "elevated uridine in urine", "elevate uridine in urine" ] ], "xref": [], "is_a": [ "HP:0033162" ], "is_obsolete": "", "replace_id": "" }, "HP:0032575": { "name": [ "decreased circulating 12 - hete", "decrease circulate 12 - hete" ], "alt_id": [], "def": "A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.", "synonym": [ [ "decreased circulating 12 - hydroxyeicosatetraenoic acid concentration", "decrease circulate 12 - hydroxyeicosatetraenoic acid concentration" ] ], "xref": [], "is_a": [ "HP:0011022" ], "is_obsolete": "", "replace_id": "" }, "HP:0032576": { "name": [ "intracellular accumulation of dol - pp - glcnac2man5", "intracellular accumulation of dol - pp - glcnac2man5" ], "alt_id": [], "def": "Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol.", "synonym": [], "xref": [], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:0032577": { "name": [ "clonal t cell receptor rearrangement", "clonal t cell receptor rearrangement" ], "alt_id": [], "def": "Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone.", "synonym": [], "xref": [], "is_a": [ "HP:0025540" ], "is_obsolete": "", "replace_id": "" }, "HP:0032578": { "name": [ "third ventricle colloid cyst", "third ventricle colloid cyst" ], "alt_id": [], "def": "An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus.", "synonym": [], "xref": [], "is_a": [ "HP:0010576", "HP:0010951" ], "is_obsolete": "", "replace_id": "" }, "HP:0032579": { "name": [ "vascular hamartoma", "vascular hamartoma" ], "alt_id": [], "def": "A benign focal growth composed of vascular tissue.", "synonym": [], "xref": [], "is_a": [ "HP:0010566" ], "is_obsolete": "", "replace_id": "" }, "HP:0032580": { "name": [ "abnormal bulbus cordis morphology", "abnormal bulbus cordis morphology" ], "alt_id": [], "def": "Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.", "synonym": [], "xref": [], "is_a": [ "HP:0001627" ], "is_obsolete": "", "replace_id": "" }, "HP:0032581": { "name": [ "abnormal renal insterstitial morphology", "abnormal renal insterstitial morphology" ], "alt_id": [], "def": "Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid.", "synonym": [], "xref": [], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0032582": { "name": [ "renal interstitial foam cells", "renal interstitial foam cell" ], "alt_id": [], "def": "Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles.", "synonym": [], "xref": [], "is_a": [ "HP:0003651", "HP:0032581" ], "is_obsolete": "", "replace_id": "" }, "HP:0032583": { "name": [ "renal glomerular foam cells", "renal glomerular foam cell" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0000095", "HP:0003651" ], "is_obsolete": "", "replace_id": "" }, "HP:0032584": { "name": [ "renal interstitial neutrophil infiltration", "renal interstitial neutrophil infiltration" ], "alt_id": [], "def": "Increased numbers of neutrophils in the interstitial tissues of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0032581" ], "is_obsolete": "", "replace_id": "" }, "HP:0032585": { "name": [ "renal interstitial eosinophil infiltration", "renal interstitial eosinophil infiltration" ], "alt_id": [], "def": "Increased numbers of eosinophils in the interstitial tissues of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0032581" ], "is_obsolete": "", "replace_id": "" }, "HP:0032586": { "name": [ "renal interstitial plasma cell infiltration", "renal interstitial plasma cell infiltration" ], "alt_id": [], "def": "Increased numbers of plasma cells in the interstitial tissues of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0032581" ], "is_obsolete": "", "replace_id": "" }, "HP:0032587": { "name": [ "renal interstitial calcium oxalate", "renal interstitial calcium oxalate" ], "alt_id": [], "def": "The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0032581" ], "is_obsolete": "", "replace_id": "" }, "HP:0032588": { "name": [ "hand apraxia", "hand apraxia" ], "alt_id": [], "def": "Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects.", "synonym": [ [ "lack of purposeful hand use", "lack of purposeful hand use" ] ], "xref": [], "is_a": [ "HP:0002186" ], "is_obsolete": "", "replace_id": "" }, "HP:0032589": { "name": [ "renal lymphocytic tubulitis", "renal lymphocytic tubulitis" ], "alt_id": [], "def": "Infiltration of the renal tubular epithelium by lymphocytes.", "synonym": [], "xref": [], "is_a": [ "HP:0000091" ], "is_obsolete": "", "replace_id": "" }, "HP:0032590": { "name": [ "renal neutrophilic tubulitis", "renal neutrophilic tubulitis" ], "alt_id": [], "def": "Infiltration of the renal tubular epithelium by neutrophils.", "synonym": [], "xref": [], "is_a": [ "HP:0000091" ], "is_obsolete": "", "replace_id": "" }, "HP:0032591": { "name": [ "renal interstitial hemosiderin", "renal interstitial hemosiderin" ], "alt_id": [], "def": "Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0032644" ], "is_obsolete": "", "replace_id": "" }, "HP:0032592": { "name": [ "aplasia of the right hemidiaphragm", "aplasia of the right hemidiaphragm" ], "alt_id": [], "def": "Congenital absence of the right-sided diaphragm.", "synonym": [ [ "right diaphragmatic hernia", "right diaphragmatic hernia" ] ], "xref": [], "is_a": [ "HP:0000776", "HP:0040047" ], "is_obsolete": "", "replace_id": "" }, "HP:0032593": { "name": [ "myoglobin casts", "myoglobin cast" ], "alt_id": [], "def": "A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.", "synonym": [], "xref": [], "is_a": [ "HP:0031199" ], "is_obsolete": "", "replace_id": "" }, "HP:0032594": { "name": [ "renal tubular basement membrane denudation", "renal tubular basement membrane denudation" ], "alt_id": [], "def": "Naked basement membranes without tubular epithelium.", "synonym": [ [ "denuded tubular basement membrane", "denude tubular basement membrane" ] ], "xref": [], "is_a": [ "HP:0020131" ], "is_obsolete": "", "replace_id": "" }, "HP:0032595": { "name": [ "renal tubular epithelial cell detachment", "renal tubular epithelial cell detachment" ], "alt_id": [], "def": "Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved.", "synonym": [], "xref": [], "is_a": [ "HP:0032599" ], "is_obsolete": "", "replace_id": "" }, "HP:0032596": { "name": [ "renal tubular epithelial cell cytoplasmic vacuolization", "renal tubular epithelial cell cytoplasmic vacuolization" ], "alt_id": [], "def": "Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size.", "synonym": [], "xref": [], "is_a": [ "HP:0032599" ], "is_obsolete": "", "replace_id": "" }, "HP:0032597": { "name": [ "renal tubular epithelial cell sloughing", "renal tubular epithelial cell slough" ], "alt_id": [], "def": "At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast.", "synonym": [], "xref": [], "is_a": [ "HP:0032599" ], "is_obsolete": "", "replace_id": "" }, "HP:0032598": { "name": [ "blebbing of apical cytoplasm of renal tubular epithelial cells", "blebbing of apical cytoplasm of renal tubular epithelial cell" ], "alt_id": [], "def": "Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule.", "synonym": [], "xref": [], "is_a": [ "HP:0032599" ], "is_obsolete": "", "replace_id": "" }, "HP:0032599": { "name": [ "abnormal renal tubular epithelial morphology", "abnormal renal tubular epithelial morphology" ], "alt_id": [], "def": "Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine.", "synonym": [], "xref": [], "is_a": [ "HP:0000091" ], "is_obsolete": "", "replace_id": "" }, "HP:0032600": { "name": [ "renal tubular epithelial cell hyaline droplets", "renal tubular epithelial cell hyaline droplet" ], "alt_id": [], "def": "Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell.", "synonym": [], "xref": [], "is_a": [ "HP:0032599" ], "is_obsolete": "", "replace_id": "" }, "HP:0032601": { "name": [ "multinucleation of renal tubular epithelial cells", "multinucleation of renal tubular epithelial cell" ], "alt_id": [], "def": "Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view.", "synonym": [], "xref": [], "is_a": [ "HP:0032599" ], "is_obsolete": "", "replace_id": "" }, "HP:0032602": { "name": [ "prominent nucleoli of renal tubular epithelial cells", "prominent nucleolus of renal tubular epithelial cell" ], "alt_id": [], "def": "Tubular epithelium with nucleoli clearly visible at 100-fold magnification.", "synonym": [], "xref": [], "is_a": [ "HP:0032599" ], "is_obsolete": "", "replace_id": "" }, "HP:0032603": { "name": [ "renal tubular epithelial cell simplification", "renal tubular epithelial cell simplification" ], "alt_id": [], "def": "Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts.", "synonym": [], "xref": [], "is_a": [ "HP:0032599" ], "is_obsolete": "", "replace_id": "" }, "HP:0032604": { "name": [ "renal tubular epithelial cell mitosis", "renal tubular epithelial cell mitosis" ], "alt_id": [], "def": "Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration.", "synonym": [], "xref": [], "is_a": [ "HP:0032599" ], "is_obsolete": "", "replace_id": "" }, "HP:0032605": { "name": [ "high renal tubular epithelial cell n / c ratio", "high renal tubular epithelial cell n / c ratio" ], "alt_id": [], "def": "At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei.", "synonym": [ [ "high n / c ratio of renal tubular epithelial cells", "high n / c ratio of renal tubular epithelial cell" ] ], "xref": [], "is_a": [ "HP:0032599" ], "is_obsolete": "", "replace_id": "" }, "HP:0032606": { "name": [ "renal tubular epithelial lipofuscin", "renal tubular epithelial lipofuscin" ], "alt_id": [], "def": "Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules.", "synonym": [], "xref": [], "is_a": [ "HP:0032599" ], "is_obsolete": "", "replace_id": "" }, "HP:0032607": { "name": [ "renal tubular epithelial cell swelling", "renal tubular epithelial cell swell" ], "alt_id": [], "def": "Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen.", "synonym": [], "xref": [], "is_a": [ "HP:0032599" ], "is_obsolete": "", "replace_id": "" }, "HP:0032608": { "name": [ "thyroidization - type tubular atrophy", "thyroidization - type tubular atrophy" ], "alt_id": [], "def": "A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts.", "synonym": [], "xref": [], "is_a": [ "HP:0000092" ], "is_obsolete": "", "replace_id": "" }, "HP:0032609": { "name": [ "endocrine - type tubular atrophy", "endocrine - type tubular atrophy" ], "alt_id": [], "def": "A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes.", "synonym": [ [ "endocrinization pattern of tubular atrophy", "endocrinization pattern of tubular atrophy" ], [ "renal tubular atrophy , endocrine - type", "renal tubular atrophy , endocrine - type" ] ], "xref": [], "is_a": [ "HP:0000092" ], "is_obsolete": "", "replace_id": "" }, "HP:0032610": { "name": [ "tubulointerstitial mycobacterial infiltration", "tubulointerstitial mycobacterial infiltration" ], "alt_id": [], "def": "Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation.", "synonym": [ [ "renal tubulointerstitial mycobacterial organisms", "renal tubulointerstitial mycobacterial organism" ] ], "xref": [], "is_a": [ "HP:0032635" ], "is_obsolete": "", "replace_id": "" }, "HP:0032611": { "name": [ "renal tubular epithelial cell hemosiderin", "renal tubular epithelial cell hemosiderin" ], "alt_id": [], "def": "Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment.", "synonym": [], "xref": [], "is_a": [ "HP:0032599" ], "is_obsolete": "", "replace_id": "" }, "HP:0032612": { "name": [ "triphalangeal hallux", "triphalangeal hallux" ], "alt_id": [], "def": "A hallux (big toe) with three phalanges in a single, proximo-distal axis.", "synonym": [], "xref": [], "is_a": [ "HP:0010057" ], "is_obsolete": "", "replace_id": "" }, "HP:0032613": { "name": [ "renal interstitial amyloid deposits", "renal interstitial amyloid deposit" ], "alt_id": [], "def": "Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation.", "synonym": [ [ "renal interstitial amyloid", "renal interstitial amyloid" ], [ "renal interstitial amyloid deposition", "renal interstitial amyloid deposition" ], [ "renal interstitial amyloidosis", "renal interstitial amyloidosis" ] ], "xref": [], "is_a": [ "HP:0001917", "HP:0032644" ], "is_obsolete": "", "replace_id": "" }, "HP:0032614": { "name": [ "renal glomerular amyloid deposition", "renal glomerular amyloid deposition" ], "alt_id": [], "def": "Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries.", "synonym": [], "xref": [], "is_a": [ "HP:0001917" ], "is_obsolete": "", "replace_id": "" }, "HP:0032615": { "name": [ "abnormal diffusion weighted cerebral mri morphology", "abnormal diffusion weight cerebral mri morphology" ], "alt_id": [], "def": "A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images.", "synonym": [ [ "diffusion weighted imaging ( dwi ) abnormality", "diffusion weight imaging ( dwi ) abnormality" ], [ "diffusion weighted magnetic resonance imaging ( dwi ) abnormality", "diffusion weight magnetic resonance imaging ( dwi ) abnormality" ], [ "mri diffusion abnormality of the cerebrum", "mri diffusion abnormality of the cerebrum" ] ], "xref": [], "is_a": [ "HP:0002060" ], "is_obsolete": "", "replace_id": "" }, "HP:0032616": { "name": [ "renal interstitial immunoglobulin deposits", "renal interstitial immunoglobulin deposit" ], "alt_id": [], "def": "Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining).", "synonym": [ [ "renal interstitial immunoglobulin deposition", "renal interstitial immunoglobulin deposition" ] ], "xref": [], "is_a": [ "HP:0032644" ], "is_obsolete": "", "replace_id": "" }, "HP:0032617": { "name": [ "renal interstitial hemorrhage", "renal interstitial hemorrhage" ], "alt_id": [], "def": "A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core.", "synonym": [ [ "renal interstitial haemorrhage", "renal interstitial haemorrhage" ] ], "xref": [], "is_a": [ "HP:0032581" ], "is_obsolete": "", "replace_id": "" }, "HP:0032618": { "name": [ "renal necrosis", "renal necrosis" ], "alt_id": [], "def": "Cell death (necrosis) affecting one or more parts of the kidney.", "synonym": [ [ "renal parenchymal necrosis", "renal parenchymal necrosis" ] ], "xref": [], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0032619": { "name": [ "perinephric abscess", "perinephric abscess" ], "alt_id": [], "def": "A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney).", "synonym": [], "xref": [], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0032620": { "name": [ "intrarenal abscess", "intrarenal abscess" ], "alt_id": [], "def": "An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis.", "synonym": [ [ "renal abscess", "renal abscess" ], [ "renal parenchymal abcess", "renal parenchymal abcess" ] ], "xref": [], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0032621": { "name": [ "hyperchromasia of renal tubular epithelial cells", "hyperchromasia of renal tubular epithelial cell" ], "alt_id": [], "def": "At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes.", "synonym": [ [ "condensed chromatin of renal tubular epithelial cells", "condense chromatin of renal tubular epithelial cell" ] ], "xref": [], "is_a": [ "HP:0032599" ], "is_obsolete": "", "replace_id": "" }, "HP:0032622": { "name": [ "tubular luminal dilatation", "tubular luminal dilatation" ], "alt_id": [], "def": "Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen.", "synonym": [], "xref": [], "is_a": [ "HP:0032950" ], "is_obsolete": "", "replace_id": "" }, "HP:0032623": { "name": [ "renal intratubular casts", "renal intratubular cast" ], "alt_id": [], "def": "Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast.", "synonym": [ [ "tubular casts", "tubular cast" ] ], "xref": [], "is_a": [ "HP:0000091" ], "is_obsolete": "", "replace_id": "" }, "HP:0032624": { "name": [ "intratubular bilirubin casts", "intratubular bilirubin cast" ], "alt_id": [], "def": "A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green).", "synonym": [], "xref": [], "is_a": [ "HP:0032623" ], "is_obsolete": "", "replace_id": "" }, "HP:0032625": { "name": [ "intratubular erythrocyte cast", "intratubular erythrocyte cast" ], "alt_id": [], "def": "Casts that contain red blood cells and are located within the tubuli of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0032623" ], "is_obsolete": "", "replace_id": "" }, "HP:0032626": { "name": [ "intratubular vancomycin casts", "intratubular vancomycin cast" ], "alt_id": [], "def": "Intratubular casts composed of vancomycin aggregates and uromodulin.", "synonym": [], "xref": [], "is_a": [ "HP:0032623" ], "is_obsolete": "", "replace_id": "" }, "HP:0032627": { "name": [ "intratubular leukocyte casts", "intratubular leukocyte cast" ], "alt_id": [], "def": "Casts that contain white blood cells and are located within the tubuli of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0032623" ], "is_obsolete": "", "replace_id": "" }, "HP:0032628": { "name": [ "renal intratubular crystals", "renal intratubular crystal" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0000091" ], "is_obsolete": "", "replace_id": "" }, "HP:0032629": { "name": [ "intratubular dihydroxyadenuria crystals", "intratubular dihydroxyadenuria crystal" ], "alt_id": [], "def": "Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver.", "synonym": [], "xref": [], "is_a": [ "HP:0032628" ], "is_obsolete": "", "replace_id": "" }, "HP:0032630": { "name": [ "intratubular light - chain casts", "intratubular light - chain cast" ], "alt_id": [], "def": "The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules.", "synonym": [], "xref": [], "is_a": [ "HP:0032623" ], "is_obsolete": "", "replace_id": "" }, "HP:0032631": { "name": [ "intratubular hemoglobin casts", "intratubular hemoglobin cast" ], "alt_id": [], "def": "A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A.", "synonym": [ [ "intratubular haemoglobin casts", "intratubular haemoglobin cast" ] ], "xref": [], "is_a": [ "HP:0032623" ], "is_obsolete": "", "replace_id": "" }, "HP:0032632": { "name": [ "renal papillary necrosis", "renal papillary necrosis" ], "alt_id": [], "def": "Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei.", "synonym": [], "xref": [], "is_a": [ "HP:0032618" ], "is_obsolete": "", "replace_id": "" }, "HP:0032633": { "name": [ "intratubular hyaline casts", "intratubular hyaline cast" ], "alt_id": [], "def": "A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.", "synonym": [ [ "intratubular tamm - horsfall ( uromodulin ) casts", "intratubular tamm - horsfall ( uromodulin ) cast" ] ], "xref": [], "is_a": [ "HP:0032623" ], "is_obsolete": "", "replace_id": "" }, "HP:0032634": { "name": [ "intratubular myoglobin cast", "intratubular myoglobin cast" ], "alt_id": [], "def": "Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells.", "synonym": [], "xref": [], "is_a": [ "HP:0032623" ], "is_obsolete": "", "replace_id": "" }, "HP:0032635": { "name": [ "tubulointerstitial microganismal infiltration", "tubulointerstitial microganismal infiltration" ], "alt_id": [], "def": "Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain.", "synonym": [], "xref": [], "is_a": [ "HP:0001969" ], "is_obsolete": "", "replace_id": "" }, "HP:0032636": { "name": [ "tubulointerstitial viral infiltration", "tubulointerstitial viral infiltration" ], "alt_id": [], "def": "Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry.", "synonym": [ [ "renal tubulointerstitial viral inclusions", "renal tubulointerstitial viral inclusion" ] ], "xref": [], "is_a": [ "HP:0001969" ], "is_obsolete": "", "replace_id": "" }, "HP:0032637": { "name": [ "renal interstitial edema", "renal interstitial edema" ], "alt_id": [], "def": "Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density.", "synonym": [ [ "renal interstitial oedema", "renal interstitial oedema" ] ], "xref": [], "is_a": [ "HP:0032581" ], "is_obsolete": "", "replace_id": "" }, "HP:0032638": { "name": [ "elevated urine mevalonic acid", "elevate urine mevalonic acid" ], "alt_id": [], "def": "An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid.", "synonym": [ [ "elevated urine mevalonate", "elevate urine mevalonate" ], [ "elevated urine mevalonate levels", "elevate urine mevalonate level" ], [ "mevalonate aciduria", "mevalonate aciduria" ] ], "xref": [], "is_a": [ "HP:0040156" ], "is_obsolete": "", "replace_id": "" }, "HP:0032639": { "name": [ "elevated leukocyte cystine", "elevate leukocyte cystine" ], "alt_id": [], "def": "An increased concentration of cystine within white blood cells.", "synonym": [], "xref": [], "is_a": [ "HP:0003358" ], "is_obsolete": "", "replace_id": "" }, "HP:0032640": { "name": [ "elevated circulating ccl18 level", "elevate circulate ccl18 level" ], "alt_id": [], "def": "An increased concentration of C-C motif chemokine ligand 18 in the blood circulation.", "synonym": [ [ "increased c - c motif chemokine ligand 18 concentration", "increase c - c motif chemokine ligand 18 concentration" ] ], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0032641": { "name": [ "renal interstitial granulomas", "renal interstitial granuloma" ], "alt_id": [], "def": "Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present.", "synonym": [ [ "renal interstitial granulomata", "renal interstitial granuloma" ] ], "xref": [], "is_a": [ "HP:0032581" ], "is_obsolete": "", "replace_id": "" }, "HP:0032642": { "name": [ "renal interstitial necrotizing granulomas", "renal interstitial necrotizing granuloma" ], "alt_id": [], "def": "An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation.", "synonym": [ [ "renal interstitial necrotizing granulomata", "renal interstitial necrotizing granuloma" ] ], "xref": [], "is_a": [ "HP:0032641" ], "is_obsolete": "", "replace_id": "" }, "HP:0032643": { "name": [ "renal interstitial non - necrotizing granulomas", "renal interstitial non - necrotizing granuloma" ], "alt_id": [], "def": "Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis.", "synonym": [ [ "renal interstitial non - necrotizing granulomata", "renal interstitial non - necrotizing granuloma" ] ], "xref": [], "is_a": [ "HP:0032641" ], "is_obsolete": "", "replace_id": "" }, "HP:0032644": { "name": [ "renal interstitial deposits", "renal interstitial deposit" ], "alt_id": [], "def": "Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0032581" ], "is_obsolete": "", "replace_id": "" }, "HP:0032645": { "name": [ "renal interstitial mononuclear cell infiltration", "renal interstitial mononuclear cell infiltration" ], "alt_id": [], "def": "Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei).", "synonym": [], "xref": [], "is_a": [ "HP:0032581" ], "is_obsolete": "", "replace_id": "" }, "HP:0032646": { "name": [ "renal interstitial xanthogranulomatous inflammation", "renal interstitial xanthogranulomatous inflammation" ], "alt_id": [], "def": "Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells.", "synonym": [], "xref": [], "is_a": [ "HP:0032581" ], "is_obsolete": "", "replace_id": "" }, "HP:0032647": { "name": [ "renal tubular epithelial cell apoptosis", "renal tubular epithelial cell apoptosis" ], "alt_id": [], "def": "Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris.", "synonym": [], "xref": [], "is_a": [ "HP:0032599" ], "is_obsolete": "", "replace_id": "" }, "HP:0032648": { "name": [ "tubularization of bowman capsule", "tubularization of bowman capsule" ], "alt_id": [], "def": "The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus.", "synonym": [], "xref": [], "is_a": [ "HP:0031264" ], "is_obsolete": "", "replace_id": "" }, "HP:0032649": { "name": [ "skewfoot", "skewfoot" ], "alt_id": [], "def": "A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus.", "synonym": [ [ "skew foot", "skew foot" ], [ "skew - foot", "skew - foot" ] ], "xref": [], "is_a": [ "HP:0001763" ], "is_obsolete": "", "replace_id": "" }, "HP:0032650": { "name": [ "elevated csf glial fibrillary acidic protein level", "elevate csf glial fibrillary acidic protein level" ], "alt_id": [], "def": "Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid.", "synonym": [], "xref": [], "is_a": [ "HP:0025456" ], "is_obsolete": "", "replace_id": "" }, "HP:0032651": { "name": [ "elevated csf chitinase - 3 - like protein 1 level", "elevate csf chitinase - 3 - like protein 1 level" ], "alt_id": [], "def": "Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid.", "synonym": [], "xref": [], "is_a": [ "HP:0025456" ], "is_obsolete": "", "replace_id": "" }, "HP:0032652": { "name": [ "elevated csf chitotriosidase 1 level", "elevate csf chitotriosidase 1 level" ], "alt_id": [], "def": "Increased concentration of chitotriosidase 1 in cerebrospinal fluid.", "synonym": [], "xref": [], "is_a": [ "HP:0025456" ], "is_obsolete": "", "replace_id": "" }, "HP:0032653": { "name": [ "elevated lactate : pyruvate ratio", "elevate lactate : pyruvate ratio" ], "alt_id": [], "def": "An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0004360" ], "is_obsolete": "", "replace_id": "" }, "HP:0032654": { "name": [ "impaired flow - mediated arterial dilatation", "impair flow - mediate arterial dilatation" ], "alt_id": [], "def": "Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery.", "synonym": [ [ "endothelial dysfunction", "endothelial dysfunction" ] ], "xref": [], "is_a": [ "HP:0025323" ], "is_obsolete": "", "replace_id": "" }, "HP:0032655": { "name": [ "decreased adipose tissue tocopherol level", "decrease adipose tissue tocopherol level" ], "alt_id": [], "def": "A reduced concentration of tocopherol in fat tissue.", "synonym": [], "xref": [], "is_a": [ "HP:0032243" ], "is_obsolete": "", "replace_id": "" }, "HP:0032656": { "name": [ "febrile status epilepticus", "febrile status epilepticus" ], "alt_id": [], "def": "A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.", "synonym": [ [ "fever - induced status epilepticus", "fever - induced status epilepticus" ] ], "xref": [], "is_a": [ "HP:0002133", "HP:0011172" ], "is_obsolete": "", "replace_id": "" }, "HP:0032657": { "name": [ "elevated circulating lyso - globotriaosylsphingosine concentration", "elevate circulate lyso - globotriaosylsphingosine concentration" ], "alt_id": [], "def": "An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0003119" ], "is_obsolete": "", "replace_id": "" }, "HP:0032658": { "name": [ "status epilepticus with prominent motor symptoms", "status epilepticus with prominent motor symptom" ], "alt_id": [], "def": "Status epilepticus with prominent motor signs during the prolonged seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0002133" ], "is_obsolete": "", "replace_id": "" }, "HP:0032659": { "name": [ "non - convulsive status epilepticus with coma", "non - convulsive status epilepticus with coma" ], "alt_id": [], "def": "A type of status epilepticus without prominent motor symptoms and in the presence of coma.", "synonym": [ [ "subtle status epilepticus", "subtle status epilepticus" ] ], "xref": [], "is_a": [ "HP:0031475" ], "is_obsolete": "", "replace_id": "" }, "HP:0032660": { "name": [ "convulsive status epilepticus", "convulsive status epilepticus" ], "alt_id": [], "def": "A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.\\ncomment: \\nsource: \\nseeAlso: Tonic-clonic status epilepticus", "synonym": [ [ "tonic - clonic status epilepticus", "tonic - clonic status epilepticus" ] ], "xref": [], "is_a": [ "HP:0002069", "HP:0032658" ], "is_obsolete": "", "replace_id": "" }, "HP:0032661": { "name": [ "generalized convulsive status epilepticus", "generalize convulsive status epilepticus" ], "alt_id": [], "def": "A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.", "synonym": [ [ "generalised convulsive status epilepticus", "generalise convulsive status epilepticus" ] ], "xref": [], "is_a": [ "HP:0025190", "HP:0032660" ], "is_obsolete": "", "replace_id": "" }, "HP:0032662": { "name": [ "focal - onset seizure evolving into bilateral convulsive status epilepticus", "focal - onset seizure evolve into bilateral convulsive status epilepticus" ], "alt_id": [], "def": "A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.", "synonym": [ [ "focal onset seizure evolving into bilateral convulsive status epilepticus", "focal onset seizure evolve into bilateral convulsive status epilepticus" ], [ "focal - onset seizure evolving into generalised convulsive status epilepticus", "focal - onset seizure evolve into generalise convulsive status epilepticus" ], [ "focal - onset seizure evolving into generalized convulsive status epilepticus", "focal - onset seizure evolve into generalize convulsive status epilepticus" ], [ "partial onset seizure evolving into convulsive status epilepticus", "partial onset seizure evolve into convulsive status epilepticus" ], [ "partial - onset seizure evolving into convulsive status epilepticus", "partial - onset seizure evolve into convulsive status epilepticus" ], [ "secondarily generalised convulsive status epilepticus", "secondarily generalise convulsive status epilepticus" ], [ "secondarily generalised tonic - clonic status epilepticus", "secondarily generalise tonic - clonic status epilepticus" ], [ "secondarily generalized convulsive status epilepticus", "secondarily generalize convulsive status epilepticus" ], [ "secondarily generalized tonic - clonic status epilepticus", "secondarily generalize tonic - clonic status epilepticus" ] ], "xref": [], "is_a": [ "HP:0007334", "HP:0032660" ], "is_obsolete": "", "replace_id": "" }, "HP:0032663": { "name": [ "focal motor status epilepticus", "focal motor status epilepticus" ], "alt_id": [], "def": "Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.", "synonym": [], "xref": [], "is_a": [ "HP:0032658" ], "is_obsolete": "", "replace_id": "" }, "HP:0032664": { "name": [ "adversive status epilepticus", "adversive status epilepticus" ], "alt_id": [], "def": "A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus.", "synonym": [], "xref": [], "is_a": [ "HP:0032663" ], "is_obsolete": "", "replace_id": "" }, "HP:0032665": { "name": [ "repeated focal motor seizures", "repeat focal motor seizure" ], "alt_id": [], "def": "A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus.", "synonym": [ [ "jacksonian status epilepticus", "jacksonian status epilepticus" ] ], "xref": [], "is_a": [ "HP:0032663" ], "is_obsolete": "", "replace_id": "" }, "HP:0032666": { "name": [ "hyperkinetic status epilepticus", "hyperkinetic status epilepticus" ], "alt_id": [], "def": "Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements.", "synonym": [], "xref": [], "is_a": [ "HP:0032658" ], "is_obsolete": "", "replace_id": "" }, "HP:0032667": { "name": [ "myoclonic status epilepticus", "myoclonic status epilepticus" ], "alt_id": [], "def": "A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography.", "synonym": [], "xref": [], "is_a": [ "HP:0032658" ], "is_obsolete": "", "replace_id": "" }, "HP:0032668": { "name": [ "myoclonic status epilepticus without coma", "myoclonic status epilepticus without coma" ], "alt_id": [], "def": "A type of myoclonic status epilepticus in the absence of coma.", "synonym": [], "xref": [], "is_a": [ "HP:0032667" ], "is_obsolete": "", "replace_id": "" }, "HP:0032669": { "name": [ "myoclonic status epilepticus with coma", "myoclonic status epilepticus with coma" ], "alt_id": [], "def": "A type of myoclonic status epilepticus in the presence of coma.", "synonym": [], "xref": [], "is_a": [ "HP:0032667" ], "is_obsolete": "", "replace_id": "" }, "HP:0032670": { "name": [ "tonic status epilepticus", "tonic status epilepticus" ], "alt_id": [], "def": "Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal.", "synonym": [], "xref": [], "is_a": [ "HP:0032658" ], "is_obsolete": "", "replace_id": "" }, "HP:0032671": { "name": [ "non - convulsive status epilepticus without coma", "non - convulsive status epilepticus without coma" ], "alt_id": [], "def": "A type of status epilepticus without prominent motor symptoms in the absence of coma.", "synonym": [], "xref": [], "is_a": [ "HP:0031475" ], "is_obsolete": "", "replace_id": "" }, "HP:0032672": { "name": [ "autonomic status epilepticus", "autonomic status epilepticus" ], "alt_id": [], "def": "Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal.", "synonym": [], "xref": [], "is_a": [ "HP:0032671" ], "is_obsolete": "", "replace_id": "" }, "HP:0032673": { "name": [ "focal non - convulsive status epilepticus without coma", "focal non - convulsive status epilepticus without coma" ], "alt_id": [], "def": "Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032671" ], "is_obsolete": "", "replace_id": "" }, "HP:0032674": { "name": [ "cutaneous wound", "cutaneous wound" ], "alt_id": [], "def": "A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time.", "synonym": [ [ "skin wound", "skin wound" ] ], "xref": [], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0032675": { "name": [ "acute cutaneous wound", "acute cutaneous wound" ], "alt_id": [], "def": "A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin.", "synonym": [], "xref": [], "is_a": [ "HP:0032674" ], "is_obsolete": "", "replace_id": "" }, "HP:0032676": { "name": [ "chronic cutaneous wound", "chronic cutaneous wound" ], "alt_id": [], "def": "A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result.", "synonym": [ [ "chronic nonhealing cutaneous wound", "chronic nonhealing cutaneous wound" ] ], "xref": [], "is_a": [ "HP:0032674" ], "is_obsolete": "", "replace_id": "" }, "HP:0032677": { "name": [ "generalized - onset motor seizure", "generalize - onset motor seizure" ], "alt_id": [], "def": "A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.", "synonym": [ [ "generalised onset motor seizure", "generalise onset motor seizure" ], [ "generalised - onset motor seizure", "generalise - onset motor seizure" ], [ "generalized onset motor seizure", "generalize onset motor seizure" ] ], "xref": [], "is_a": [ "HP:0002197", "HP:0020219" ], "is_obsolete": "", "replace_id": "" }, "HP:0032678": { "name": [ "eyelid myoclonia seizure", "eyelid myoclonia seizure" ], "alt_id": [], "def": "An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness.", "synonym": [], "xref": [], "is_a": [ "HP:0002123" ], "is_obsolete": "", "replace_id": "" }, "HP:0032679": { "name": [ "focal non - motor seizure", "focal non - motor seizure" ], "alt_id": [], "def": "A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation.", "synonym": [ [ "focal seizure without motor onset", "focal seizure without motor onset" ], [ "partial seizure without motor onset", "partial seizure without motor onset" ] ], "xref": [], "is_a": [ "HP:0007359", "HP:0033259" ], "is_obsolete": "", "replace_id": "" }, "HP:0032680": { "name": [ "focal cognitive seizure", "focal cognitive seizure" ], "alt_id": [ "HP:0011162" ], "def": "A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.", "synonym": [ [ "cognitive aura", "cognitive aura" ], [ "cognitive seizure", "cognitive seizure" ], [ "partial cognitive seizure", "partial cognitive seizure" ] ], "xref": [], "is_a": [ "HP:0032679" ], "is_obsolete": "", "replace_id": "" }, "HP:0032681": { "name": [ "focal aware cognitive seizure", "focal aware cognitive seizure" ], "alt_id": [ "HP:0032683", "HP:0032881" ], "def": "A focal aware cognitive seizure during which awareness is retained throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032680", "HP:0032682" ], "is_obsolete": "", "replace_id": "" }, "HP:0032682": { "name": [ "focal aware non - motor seizure", "focal aware non - motor seizure" ], "alt_id": [], "def": "A focal non-motor seizure in which awareness is retained throughout the seizure.", "synonym": [ [ "focal non - motor aware seizure", "focal non - motor aware seizure" ] ], "xref": [], "is_a": [ "HP:0002349", "HP:0032679" ], "is_obsolete": "", "replace_id": "" }, "HP:0032683": { "name": [ "obsolete focal aware cognitive seizure with impaired attention", "obsolete focal aware cognitive seizure with impaired attention" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0032681" }, "HP:0032684": { "name": [ "focal aware cognitive seizure with auditory agnosia", "focal aware cognitive seizure with auditory agnosia" ], "alt_id": [], "def": "A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032681", "HP:0032685" ], "is_obsolete": "", "replace_id": "" }, "HP:0032685": { "name": [ "focal cognitive seizure with auditory agnosia", "focal cognitive seizure with auditory agnosia" ], "alt_id": [], "def": "A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.", "synonym": [], "xref": [], "is_a": [ "HP:0032680" ], "is_obsolete": "", "replace_id": "" }, "HP:0032686": { "name": [ "focal aware cognitive seizure with memory impairment", "focal aware cognitive seizure with memory impairment" ], "alt_id": [], "def": "A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032681", "HP:0032687" ], "is_obsolete": "", "replace_id": "" }, "HP:0032687": { "name": [ "focal cognitive seizure with memory impairment", "focal cognitive seizure with memory impairment" ], "alt_id": [], "def": "A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia).", "synonym": [ [ "amnestic aura", "amnestic aura" ], [ "amnestic seizure", "amnestic seizure" ] ], "xref": [], "is_a": [ "HP:0032680" ], "is_obsolete": "", "replace_id": "" }, "HP:0032688": { "name": [ "focal aware cognitive seizure with dissociation", "focal aware cognitive seizure with dissociation" ], "alt_id": [], "def": "A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032681", "HP:0032689" ], "is_obsolete": "", "replace_id": "" }, "HP:0032689": { "name": [ "focal cognitive seizure with dissociation", "focal cognitive seizure with dissociation" ], "alt_id": [], "def": "A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0032680" ], "is_obsolete": "", "replace_id": "" }, "HP:0032690": { "name": [ "focal aware cognitive seizure with dyscalculia / acalculia", "focal aware cognitive seizure with dyscalculia / acalculia" ], "alt_id": [], "def": "A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032681", "HP:0032691" ], "is_obsolete": "", "replace_id": "" }, "HP:0032691": { "name": [ "focal cognitive seizure with dyscalculia / acalculia", "focal cognitive seizure with dyscalculia / acalculia" ], "alt_id": [], "def": "A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0032680" ], "is_obsolete": "", "replace_id": "" }, "HP:0032692": { "name": [ "focal cognitive seizure with forced thinking", "focal cognitive seizure with forced thinking" ], "alt_id": [], "def": "A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0032680", "HP:0033347" ], "is_obsolete": "", "replace_id": "" }, "HP:0032693": { "name": [ "focal cognitive seizure with neglect", "focal cognitive seizure with neglect" ], "alt_id": [], "def": "A focal cognitive seizure characterized by neglect as the initial semiological manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0032680" ], "is_obsolete": "", "replace_id": "" }, "HP:0032694": { "name": [ "focal cognitive seizure with dyslexia / alexia", "focal cognitive seizure with dyslexia / alexia" ], "alt_id": [], "def": "A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0032680" ], "is_obsolete": "", "replace_id": "" }, "HP:0032695": { "name": [ "obsolete illusory auras", "obsolete illusory aura" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0012008" }, "HP:0032696": { "name": [ "focal cognitive seizure with receptive dysphasia / aphasia", "focal cognitive seizure with receptive dysphasia / aphasia" ], "alt_id": [], "def": "A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0032680" ], "is_obsolete": "", "replace_id": "" }, "HP:0032697": { "name": [ "obsolete focal cognitive seizure with deja vu / jamais vu", "obsolete focal cognitive seizure with deja vu / jamais vu" ], "alt_id": [], "def": "A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0012004" }, "HP:0032698": { "name": [ "focal cognitive seizure with conduction dysphasia / aphasia", "focal cognitive seizure with conduction dysphasia / aphasia" ], "alt_id": [], "def": "A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0032680" ], "is_obsolete": "", "replace_id": "" }, "HP:0032699": { "name": [ "focal cognitive seizure with dysgraphia / agraphia", "focal cognitive seizure with dysgraphia / agraphia" ], "alt_id": [], "def": "A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0032680" ], "is_obsolete": "", "replace_id": "" }, "HP:0032700": { "name": [ "focal cognitive seizure with left - right confusion", "focal cognitive seizure with left - right confusion" ], "alt_id": [], "def": "A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0032680" ], "is_obsolete": "", "replace_id": "" }, "HP:0032701": { "name": [ "focal cognitive seizure with anomia", "focal cognitive seizure with anomia" ], "alt_id": [], "def": "A focal cognitive seizure characterized by anomia as the initial semiological manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0032680" ], "is_obsolete": "", "replace_id": "" }, "HP:0032702": { "name": [ "focal cognitive seizure with expressive dysphasia / aphasia", "focal cognitive seizure with expressive dysphasia / aphasia" ], "alt_id": [], "def": "A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0032680" ], "is_obsolete": "", "replace_id": "" }, "HP:0032703": { "name": [ "obsolete hallucinatory aura", "obsolete hallucinatory aura" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0012007" }, "HP:0032704": { "name": [ "focal aware cognitive seizure with illusion", "focal aware cognitive seizure with illusion" ], "alt_id": [], "def": "A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0012008", "HP:0032681" ], "is_obsolete": "", "replace_id": "" }, "HP:0032705": { "name": [ "focal aware cognitive seizure with forced thinking", "focal aware cognitive seizure with forced thinking" ], "alt_id": [], "def": "A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032681", "HP:0032692" ], "is_obsolete": "", "replace_id": "" }, "HP:0032706": { "name": [ "focal aware cognitive seizure with left - right confusion", "focal aware cognitive seizure with left - right confusion" ], "alt_id": [], "def": "A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032681", "HP:0032700" ], "is_obsolete": "", "replace_id": "" }, "HP:0032707": { "name": [ "focal aware cognitive seizure with dyslexia / alexia", "focal aware cognitive seizure with dyslexia / alexia" ], "alt_id": [], "def": "A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032681", "HP:0032694" ], "is_obsolete": "", "replace_id": "" }, "HP:0032708": { "name": [ "focal aware cognitive seizure with anomia", "focal aware cognitive seizure with anomia" ], "alt_id": [], "def": "A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032681", "HP:0032701" ], "is_obsolete": "", "replace_id": "" }, "HP:0032709": { "name": [ "focal aware cognitive seizure with dysgraphia / agraphia", "focal aware cognitive seizure with dysgraphia / agraphia" ], "alt_id": [], "def": "A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032681", "HP:0032699" ], "is_obsolete": "", "replace_id": "" }, "HP:0032710": { "name": [ "focal aware cognitive seizure with receptive dysphasia / aphasia", "focal aware cognitive seizure with receptive dysphasia / aphasia" ], "alt_id": [], "def": "A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032681", "HP:0032696" ], "is_obsolete": "", "replace_id": "" }, "HP:0032711": { "name": [ "focal aware clonic seizure", "focal aware clonic seizure" ], "alt_id": [], "def": "A type of focal clonic seizure during which awareness is fully retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0002266", "HP:0020217" ], "is_obsolete": "", "replace_id": "" }, "HP:0032712": { "name": [ "focal impaired awareness motor seizure", "focal impair awareness motor seizure" ], "alt_id": [], "def": "A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [ [ "focal motor impaired awareness seizure", "focal motor impair awareness seizure" ] ], "xref": [], "is_a": [ "HP:0002384", "HP:0011153" ], "is_obsolete": "", "replace_id": "" }, "HP:0032713": { "name": [ "focal impaired awareness motor seizure with version", "focal impair awareness motor seizure with version" ], "alt_id": [], "def": "A focal motor seizure with version characterized by impaired awareness at some point during the seizure.", "synonym": [ [ "focal motor impaired awareness seizure with version", "focal motor impair awareness seizure with version" ] ], "xref": [], "is_a": [ "HP:0011175", "HP:0032712" ], "is_obsolete": "", "replace_id": "" }, "HP:0032714": { "name": [ "focal impaired awareness bilateral motor seizure", "focal impair awareness bilateral motor seizure" ], "alt_id": [], "def": "A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032712", "HP:0032715" ], "is_obsolete": "", "replace_id": "" }, "HP:0032715": { "name": [ "focal bilateral motor seizure", "focal bilateral motor seizure" ], "alt_id": [], "def": "A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset.", "synonym": [], "xref": [], "is_a": [ "HP:0011153" ], "is_obsolete": "", "replace_id": "" }, "HP:0032716": { "name": [ "focal impaired awareness non - motor seizure", "focal impair awareness non - motor seizure" ], "alt_id": [], "def": "A focal non-motor seizure characterized by impaired awareness at some point during the seizure.", "synonym": [ [ "focal non - motor impaired awareness seizure", "focal non - motor impaired awareness seizure" ] ], "xref": [], "is_a": [ "HP:0002384", "HP:0032679" ], "is_obsolete": "", "replace_id": "" }, "HP:0032717": { "name": [ "focal impaired awareness motor seizure with dystonia", "focal impair awareness motor seizure with dystonia" ], "alt_id": [], "def": "A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure.", "synonym": [ [ "focal motor impaired awareness seizure with dystonia", "focal motor impair awareness seizure with dystonia" ] ], "xref": [], "is_a": [ "HP:0032712", "HP:0032718" ], "is_obsolete": "", "replace_id": "" }, "HP:0032718": { "name": [ "focal motor seizure with dystonia", "focal motor seizure with dystonia" ], "alt_id": [], "def": "A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures.", "synonym": [], "xref": [], "is_a": [ "HP:0011153" ], "is_obsolete": "", "replace_id": "" }, "HP:0032719": { "name": [ "focal impaired awareness motor seizure with dysarthria / anarthria", "focal impair awareness motor seizure with dysarthria / anarthria" ], "alt_id": [], "def": "A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure.", "synonym": [ [ "focal motor impaired awareness seizure with dysarthria / anarthria", "focal motor impair awareness seizure with dysarthria / anarthria" ] ], "xref": [], "is_a": [ "HP:0032712", "HP:0032720" ], "is_obsolete": "", "replace_id": "" }, "HP:0032720": { "name": [ "focal motor seizure with dysarthria / anarthria", "focal motor seizure with dysarthria / anarthria" ], "alt_id": [], "def": "A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible.", "synonym": [], "xref": [], "is_a": [ "HP:0011153" ], "is_obsolete": "", "replace_id": "" }, "HP:0032721": { "name": [ "focal motor seizure with paresis / paralysis", "focal motor seizure with paresis / paralysis" ], "alt_id": [], "def": "A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0011153" ], "is_obsolete": "", "replace_id": "" }, "HP:0032722": { "name": [ "focal aware tonic seizure", "focal aware tonic seizure" ], "alt_id": [], "def": "A type of focal tonic seizure during which awareness is fully retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0011167", "HP:0020217" ], "is_obsolete": "", "replace_id": "" }, "HP:0032723": { "name": [ "focal aware motor seizure with dystonia", "focal aware motor seizure with dystonia" ], "alt_id": [], "def": "A focal motor seizure with dystonia characterized by retained awareness throughout the seizure.", "synonym": [ [ "focal motor aware seizure with dystonia", "focal motor aware seizure with dystonia" ] ], "xref": [], "is_a": [ "HP:0020217", "HP:0032718" ], "is_obsolete": "", "replace_id": "" }, "HP:0032724": { "name": [ "focal impaired awareness tonic seizure", "focal impair awareness tonic seizure" ], "alt_id": [], "def": "A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0011167", "HP:0032712" ], "is_obsolete": "", "replace_id": "" }, "HP:0032725": { "name": [ "focal impaired awareness clonic seizure", "focal impair awareness clonic seizure" ], "alt_id": [], "def": "A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0002266", "HP:0032712" ], "is_obsolete": "", "replace_id": "" }, "HP:0032726": { "name": [ "focal impaired awareness hyperkinetic seizure", "focal impair awareness hyperkinetic seizure" ], "alt_id": [], "def": "A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0011174", "HP:0032712" ], "is_obsolete": "", "replace_id": "" }, "HP:0032727": { "name": [ "focal emotional seizure with agitation", "focal emotional seizure with agitation" ], "alt_id": [], "def": "Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.", "synonym": [], "xref": [], "is_a": [ "HP:0025613" ], "is_obsolete": "", "replace_id": "" }, "HP:0032728": { "name": [ "focal impaired awareness atonic seizure", "focal impair awareness atonic seizure" ], "alt_id": [], "def": "A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0020220", "HP:0032712" ], "is_obsolete": "", "replace_id": "" }, "HP:0032729": { "name": [ "focal emotional seizure with pleasure", "focal emotional seizure with pleasure" ], "alt_id": [], "def": "Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy.", "synonym": [], "xref": [], "is_a": [ "HP:0025613" ], "is_obsolete": "", "replace_id": "" }, "HP:0032730": { "name": [ "focal impaired awareness myoclonic seizure", "focal impair awareness myoclonic seizure" ], "alt_id": [], "def": "A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0011166", "HP:0032712" ], "is_obsolete": "", "replace_id": "" }, "HP:0032731": { "name": [ "focal aware hyperkinetic seizure", "focal aware hyperkinetic seizure" ], "alt_id": [], "def": "A type of focal hypermotor seizure during which awareness is fully retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0011174", "HP:0020217" ], "is_obsolete": "", "replace_id": "" }, "HP:0032732": { "name": [ "focal aware motor seizure with paresis / paralysis", "focal aware motor seizure with paresis / paralysis" ], "alt_id": [], "def": "A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure.", "synonym": [ [ "focal motor aware seizure with paresis / paralysis", "focal motor aware seizure with paresis / paralysis" ] ], "xref": [], "is_a": [ "HP:0020217", "HP:0032721" ], "is_obsolete": "", "replace_id": "" }, "HP:0032733": { "name": [ "focal aware motor seizure with dysarthria / anarthria", "focal aware motor seizure with dysarthria / anarthria" ], "alt_id": [], "def": "A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure.", "synonym": [ [ "focal motor aware seizure with dysarthria / anarthria", "focal motor aware seizure with dysarthria / anarthria" ] ], "xref": [], "is_a": [ "HP:0020217", "HP:0032720" ], "is_obsolete": "", "replace_id": "" }, "HP:0032734": { "name": [ "focal aware emotional seizure", "focal aware emotional seizure" ], "alt_id": [], "def": "A focal emotional seizure during which awareness is retained throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0025613", "HP:0032682" ], "is_obsolete": "", "replace_id": "" }, "HP:0032735": { "name": [ "focal aware emotional seizure with anger", "focal aware emotional seizure with anger" ], "alt_id": [], "def": "Focal emotional seizure with anger in which awareness is retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0032734", "HP:0032736" ], "is_obsolete": "", "replace_id": "" }, "HP:0032736": { "name": [ "focal emotional seizure with anger", "focal emotional seizure with anger" ], "alt_id": [], "def": "Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour.", "synonym": [], "xref": [], "is_a": [ "HP:0025613" ], "is_obsolete": "", "replace_id": "" }, "HP:0032737": { "name": [ "focal emotional seizure with paranoia", "focal emotional seizure with paranoia" ], "alt_id": [], "def": "Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0025613" ], "is_obsolete": "", "replace_id": "" }, "HP:0032738": { "name": [ "focal aware emotional seizure with fear / anxiety / panic", "focal aware emotional seizure with fear / anxiety / panic" ], "alt_id": [], "def": "Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0032734", "HP:0032739" ], "is_obsolete": "", "replace_id": "" }, "HP:0032739": { "name": [ "focal emotional seizure with fear / anxiety / panic", "focal emotional seizure with fear / anxiety / panic" ], "alt_id": [], "def": "Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.", "synonym": [], "xref": [], "is_a": [ "HP:0025613" ], "is_obsolete": "", "replace_id": "" }, "HP:0032740": { "name": [ "focal aware autonomic seizure", "focal aware autonomic seizure" ], "alt_id": [ "HP:0011156" ], "def": "A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout.", "synonym": [ [ "focal autonomic seizures without altered responsiveness", "focal autonomic seizure without altered responsiveness" ], [ "localised autonomic seizures without altered responsiveness", "localise autonomic seizure without altered responsiveness" ], [ "localized autonomic seizures without altered responsiveness", "localize autonomic seizure without altered responsiveness" ], [ "partial autonomic seizures without altered responsiveness", "partial autonomic seizure without altered responsiveness" ] ], "xref": [], "is_a": [ "HP:0011154", "HP:0032682" ], "is_obsolete": "", "replace_id": "" }, "HP:0032741": { "name": [ "focal aware emotional seizure with paranoia", "focal aware emotional seizure with paranoia" ], "alt_id": [], "def": "Focal emotional seizure with paranoia in which awareness is retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0032734", "HP:0032737" ], "is_obsolete": "", "replace_id": "" }, "HP:0032742": { "name": [ "focal aware emotional seizure with pleasure", "focal aware emotional seizure with pleasure" ], "alt_id": [], "def": "Focal emotional seizure with pleasure in which awareness is retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0032729", "HP:0032734" ], "is_obsolete": "", "replace_id": "" }, "HP:0032743": { "name": [ "focal aware emotional seizure with crying", "focal aware emotional seizure with cry" ], "alt_id": [], "def": "Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0010820", "HP:0032734" ], "is_obsolete": "", "replace_id": "" }, "HP:0032744": { "name": [ "focal aware emotional seizure with agitation", "focal aware emotional seizure with agitation" ], "alt_id": [], "def": "Focal emotional seizure with agitation in which awareness is retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0032727", "HP:0032734" ], "is_obsolete": "", "replace_id": "" }, "HP:0032745": { "name": [ "focal aware emotional seizure with laughing", "focal aware emotional seizure with laugh" ], "alt_id": [], "def": "Focal emotional seizure with laughing in which awareness is retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0010821", "HP:0032734" ], "is_obsolete": "", "replace_id": "" }, "HP:0032746": { "name": [ "focal impaired awareness emotional seizure", "focal impair awareness emotional seizure" ], "alt_id": [], "def": "A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0025613", "HP:0032716" ], "is_obsolete": "", "replace_id": "" }, "HP:0032747": { "name": [ "focal impaired awareness emotional seizure with pleasure", "focal impair awareness emotional seizure with pleasure" ], "alt_id": [], "def": "Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032729", "HP:0032746" ], "is_obsolete": "", "replace_id": "" }, "HP:0032748": { "name": [ "focal impaired awareness emotional seizure with anger", "focal impair awareness emotional seizure with anger" ], "alt_id": [], "def": "Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032736", "HP:0032746" ], "is_obsolete": "", "replace_id": "" }, "HP:0032749": { "name": [ "focal impaired awareness emotional seizure with paranoia", "focal impair awareness emotional seizure with paranoia" ], "alt_id": [], "def": "Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032737", "HP:0032746" ], "is_obsolete": "", "replace_id": "" }, "HP:0032750": { "name": [ "focal impaired awareness emotional seizure with laughing", "focal impair awareness emotional seizure with laugh" ], "alt_id": [], "def": "Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0010821", "HP:0032746" ], "is_obsolete": "", "replace_id": "" }, "HP:0032751": { "name": [ "focal impaired awareness emotional seizure with crying", "focal impair awareness emotional seizure with cry" ], "alt_id": [], "def": "Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0010820", "HP:0032746" ], "is_obsolete": "", "replace_id": "" }, "HP:0032752": { "name": [ "focal impaired awareness emotional seizure with fear / anxiety / panic", "focal impair awareness emotional seizure with fear / anxiety / panic" ], "alt_id": [], "def": "Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032739", "HP:0032746" ], "is_obsolete": "", "replace_id": "" }, "HP:0032753": { "name": [ "focal impaired awareness emotional seizure with agitation", "focal impair awareness emotional seizure with agitation" ], "alt_id": [], "def": "A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032727", "HP:0032746" ], "is_obsolete": "", "replace_id": "" }, "HP:0032754": { "name": [ "focal aware sensory seizure", "focal aware sensory seizure" ], "alt_id": [], "def": "A focal sensory seizure during which awareness is retained throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0011157", "HP:0032682" ], "is_obsolete": "", "replace_id": "" }, "HP:0032755": { "name": [ "focal impaired awareness autonomic seizure", "focal impair awareness autonomic seizure" ], "alt_id": [ "HP:0011155" ], "def": "A focal autonomic seizure characterised by impaired awareness at some point within the seizure.", "synonym": [ [ "focal autonomic seizure with altered responsiveness", "focal autonomic seizure with altered responsiveness" ], [ "localised autonomic seizure with altered responsiveness", "localise autonomic seizure with altered responsiveness" ], [ "localized autonomic seizure with altered responsiveness", "localize autonomic seizure with altered responsiveness" ], [ "partial autonomic seizure with altered responsiveness", "partial autonomic seizure with altered responsiveness" ] ], "xref": [], "is_a": [ "HP:0011154", "HP:0032716" ], "is_obsolete": "", "replace_id": "" }, "HP:0032756": { "name": [ "focal impaired awareness cognitive seizure", "focal impair awareness cognitive seizure" ], "alt_id": [ "HP:0032875", "HP:0032931" ], "def": "A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032680", "HP:0032716" ], "is_obsolete": "", "replace_id": "" }, "HP:0032757": { "name": [ "focal aware hemiclonic seizure", "focal aware hemiclonic seizure" ], "alt_id": [], "def": "A focal hemiclonic seizure in which awareness is retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0006813", "HP:0032711" ], "is_obsolete": "", "replace_id": "" }, "HP:0032758": { "name": [ "focal aware myoclonic seizure", "focal aware myoclonic seizure" ], "alt_id": [], "def": "A type of focal myoclonic seizure during which awareness is fully retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0011166", "HP:0020217" ], "is_obsolete": "", "replace_id": "" }, "HP:0032759": { "name": [ "focal sensory seizure with vestibular features", "focal sensory seizure with vestibular feature" ], "alt_id": [], "def": "A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation.", "synonym": [ [ "focal vestibular seizure", "focal vestibular seizure" ], [ "partial vestibular seizure", "partial vestibular seizure" ], [ "vestibular aura", "vestibular aura" ] ], "xref": [], "is_a": [ "HP:0011157" ], "is_obsolete": "", "replace_id": "" }, "HP:0032760": { "name": [ "focal sensory seizure with hot - cold sensations", "focal sensory seizure with hot - cold sensation" ], "alt_id": [], "def": "A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0011157" ], "is_obsolete": "", "replace_id": "" }, "HP:0032761": { "name": [ "focal aware autonomic seizure with pallor / flushing", "focal aware autonomic seizure with pallor / flushing" ], "alt_id": [], "def": "A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032740", "HP:0032762" ], "is_obsolete": "", "replace_id": "" }, "HP:0032762": { "name": [ "focal autonomic seizure with pallor / flushing", "focal autonomic seizure with pallor / flushing" ], "alt_id": [], "def": "A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature.", "synonym": [], "xref": [], "is_a": [ "HP:0011154" ], "is_obsolete": "", "replace_id": "" }, "HP:0032763": { "name": [ "focal autonomic seizure with pupillary dilation / constriction", "focal autonomic seizure with pupillary dilation / constriction" ], "alt_id": [], "def": "A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.", "synonym": [], "xref": [], "is_a": [ "HP:0011154" ], "is_obsolete": "", "replace_id": "" }, "HP:0032764": { "name": [ "focal autonomic seizure with erection", "focal autonomic seizure with erection" ], "alt_id": [], "def": "A type of focal autonomic seizure characterised by penile erection as the intial semiological feature.", "synonym": [], "xref": [], "is_a": [ "HP:0011154" ], "is_obsolete": "", "replace_id": "" }, "HP:0032765": { "name": [ "focal autonomic seizure with urge to urinate / defecate", "focal autonomic seizure with urge to urinate / defecate" ], "alt_id": [], "def": "A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature.", "synonym": [], "xref": [], "is_a": [ "HP:0011154" ], "is_obsolete": "", "replace_id": "" }, "HP:0032766": { "name": [ "focal autonomic seizure with hypoventilation / hyperventilation / altered respiration", "focal autonomic seizure with hypoventilation / hyperventilation / alter respiration" ], "alt_id": [], "def": "A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature.", "synonym": [], "xref": [], "is_a": [ "HP:0011154" ], "is_obsolete": "", "replace_id": "" }, "HP:0032767": { "name": [ "focal autonomic seizure with piloerection", "focal autonomic seizure with piloerection" ], "alt_id": [], "def": "A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature.", "synonym": [], "xref": [], "is_a": [ "HP:0011154" ], "is_obsolete": "", "replace_id": "" }, "HP:0032768": { "name": [ "focal aware autonomic seizure with pupillary dilation / constriction", "focal aware autonomic seizure with pupillary dilation / constriction" ], "alt_id": [], "def": "A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032740", "HP:0032763" ], "is_obsolete": "", "replace_id": "" }, "HP:0032769": { "name": [ "focal aware autonomic seizure with hypoventilation / hyperventilation / altered respiration", "focal aware autonomic seizure with hypoventilation / hyperventilation / alter respiration" ], "alt_id": [], "def": "An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032740", "HP:0032766" ], "is_obsolete": "", "replace_id": "" }, "HP:0032770": { "name": [ "focal aware autonomic seizure with erection", "focal aware autonomic seizure with erection" ], "alt_id": [], "def": "A focal autonomic seizure with erection characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032740", "HP:0032764" ], "is_obsolete": "", "replace_id": "" }, "HP:0032771": { "name": [ "focal autonomic seizure with lacrimation", "focal autonomic seizure with lacrimation" ], "alt_id": [], "def": "A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature.", "synonym": [], "xref": [], "is_a": [ "HP:0011154" ], "is_obsolete": "", "replace_id": "" }, "HP:0032772": { "name": [ "focal impaired awareness autonomic seizure with piloerection", "focal impair awareness autonomic seizure with piloerection" ], "alt_id": [], "def": "A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032755", "HP:0032767" ], "is_obsolete": "", "replace_id": "" }, "HP:0032773": { "name": [ "focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole", "focal autonomic seizure with palpitation / tachycardia / bradycardia / asystole" ], "alt_id": [], "def": "A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.", "synonym": [], "xref": [], "is_a": [ "HP:0011154" ], "is_obsolete": "", "replace_id": "" }, "HP:0032774": { "name": [ "focal impaired awareness autonomic seizure with urge to urinate / defecate", "focal impair awareness autonomic seizure with urge to urinate / defecate" ], "alt_id": [], "def": "A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032755", "HP:0032765" ], "is_obsolete": "", "replace_id": "" }, "HP:0032775": { "name": [ "focal impaired awareness autonomic seizure with hypoventilation / hyperventilation / altered respiration", "focal impair awareness autonomic seizure with hypoventilation / hyperventilation / alter respiration" ], "alt_id": [], "def": "An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032755", "HP:0032766" ], "is_obsolete": "", "replace_id": "" }, "HP:0032776": { "name": [ "focal aware autonomic seizure with lacrimation", "focal aware autonomic seizure with lacrimation" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0032740", "HP:0032771" ], "is_obsolete": "", "replace_id": "" }, "HP:0032777": { "name": [ "focal impaired awareness autonomic seizure with pallor / flushing", "focal impair awareness autonomic seizure with pallor / flushing" ], "alt_id": [], "def": "A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032755", "HP:0032762" ], "is_obsolete": "", "replace_id": "" }, "HP:0032778": { "name": [ "focal impaired awareness autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena", "focal impair awareness autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomenon" ], "alt_id": [], "def": "A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0011159", "HP:0032755" ], "is_obsolete": "", "replace_id": "" }, "HP:0032779": { "name": [ "focal impaired awareness autonomic seizure with pupillary dilation / constriction", "focal impair awareness autonomic seizure with pupillary dilation / constriction" ], "alt_id": [], "def": "A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032755", "HP:0032763" ], "is_obsolete": "", "replace_id": "" }, "HP:0032780": { "name": [ "focal impaired awareness autonomic seizure with erection", "focal impair awareness autonomic seizure with erection" ], "alt_id": [], "def": "A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032755", "HP:0032764" ], "is_obsolete": "", "replace_id": "" }, "HP:0032781": { "name": [ "focal aware autonomic seizure with urge to urinate / defecate", "focal aware autonomic seizure with urge to urinate / defecate" ], "alt_id": [], "def": "A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032740", "HP:0032765" ], "is_obsolete": "", "replace_id": "" }, "HP:0032782": { "name": [ "focal impaired awareness autonomic seizure with lacrimation", "focal impair awareness autonomic seizure with lacrimation" ], "alt_id": [], "def": "A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032755", "HP:0032771" ], "is_obsolete": "", "replace_id": "" }, "HP:0032783": { "name": [ "focal aware autonomic seizure with piloerection", "focal aware autonomic seizure with piloerection" ], "alt_id": [], "def": "A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032740", "HP:0032767" ], "is_obsolete": "", "replace_id": "" }, "HP:0032784": { "name": [ "focal aware autonomic seizure with palpitations / tachycardia / bradycardia / asystole", "focal aware autonomic seizure with palpitation / tachycardia / bradycardia / asystole" ], "alt_id": [], "def": "An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032740", "HP:0032773" ], "is_obsolete": "", "replace_id": "" }, "HP:0032785": { "name": [ "focal aware autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena", "focal aware autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomenon" ], "alt_id": [], "def": "A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0011159", "HP:0032740" ], "is_obsolete": "", "replace_id": "" }, "HP:0032786": { "name": [ "migrating focal seizure", "migrate focal seizure" ], "alt_id": [], "def": "A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations.", "synonym": [ [ "migrating partial seizure", "migrate partial seizure" ] ], "xref": [], "is_a": [ "HP:0007359" ], "is_obsolete": "", "replace_id": "" }, "HP:0032787": { "name": [ "focal impaired awareness sensory seizure", "focal impair awareness sensory seizure" ], "alt_id": [], "def": "A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0011157", "HP:0032716" ], "is_obsolete": "", "replace_id": "" }, "HP:0032788": { "name": [ "focal impaired awareness autonomic seizure with palpitations / tachycardia / bradycardia / asystole", "focal impair awareness autonomic seizure with palpitation / tachycardia / bradycardia / asystole" ], "alt_id": [], "def": "A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032755", "HP:0032773" ], "is_obsolete": "", "replace_id": "" }, "HP:0032789": { "name": [ "focal aware behavior arrest seizure", "focal aware behavior arrest seizure" ], "alt_id": [], "def": "A focal behavior arrest seizure characterised by retained awareness throughout the seizure.", "synonym": [ [ "focal aware behaviour arrest seizure", "focal aware behaviour arrest seizure" ] ], "xref": [], "is_a": [ "HP:0011173", "HP:0032682" ], "is_obsolete": "", "replace_id": "" }, "HP:0032790": { "name": [ "focal impaired awareness behavior arrest seizure", "focal impair awareness behavior arrest seizure" ], "alt_id": [], "def": "A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure.", "synonym": [ [ "focal impaired awareness behaviour arrest seizure", "focal impair awareness behaviour arrest seizure" ] ], "xref": [], "is_a": [ "HP:0011173", "HP:0032716" ], "is_obsolete": "", "replace_id": "" }, "HP:0032791": { "name": [ "focal impaired awareness cognitive seizure with anomia", "focal impair awareness cognitive seizure with anomia" ], "alt_id": [], "def": "A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032701", "HP:0032756" ], "is_obsolete": "", "replace_id": "" }, "HP:0032792": { "name": [ "tonic seizure", "tonic seizure" ], "alt_id": [], "def": "A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.", "synonym": [], "xref": [], "is_a": [ "HP:0020219" ], "is_obsolete": "", "replace_id": "" }, "HP:0032793": { "name": [ "focal impaired awareness cognitive seizure with receptive dysphasia / aphasia", "focal impair awareness cognitive seizure with receptive dysphasia / aphasia" ], "alt_id": [], "def": "A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032696", "HP:0032756" ], "is_obsolete": "", "replace_id": "" }, "HP:0032794": { "name": [ "myoclonic seizure", "myoclonic seizure" ], "alt_id": [], "def": "A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.", "synonym": [], "xref": [], "is_a": [ "HP:0020219" ], "is_obsolete": "", "replace_id": "" }, "HP:0032795": { "name": [ "generalized myoclonic - tonic - clonic seizure", "generalize myoclonic - tonic - clonic seizure" ], "alt_id": [], "def": "A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus.", "synonym": [ [ "generalised myoclonic - tonic - clonic seizure", "generalise myoclonic - tonic - clonic seizure" ], [ "generalised onset myoclonic - tonic - clonic seizure", "generalise onset myoclonic - tonic - clonic seizure" ], [ "generalised - onset myoclonic - tonic - clonic seizure", "generalise - onset myoclonic - tonic - clonic seizure" ], [ "generalized onset myoclonic - tonic - clonic seizure", "generalize onset myoclonic - tonic - clonic seizure" ], [ "generalized - onset myoclonic - tonic - clonic seizure", "generalize - onset myoclonic - tonic - clonic seizure" ] ], "xref": [], "is_a": [ "HP:0032677" ], "is_obsolete": "", "replace_id": "" }, "HP:0032796": { "name": [ "focal impaired awareness cognitive seizure with left - right confusion", "focal impair awareness cognitive seizure with left - right confusion" ], "alt_id": [], "def": "A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032700", "HP:0032756" ], "is_obsolete": "", "replace_id": "" }, "HP:0032797": { "name": [ "focal aware sensory seizure with olfactory features", "focal aware sensory seizure with olfactory feature" ], "alt_id": [], "def": "Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant.", "synonym": [], "xref": [], "is_a": [ "HP:0011161", "HP:0032754" ], "is_obsolete": "", "replace_id": "" }, "HP:0032798": { "name": [ "focal impaired awareness cognitive seizure with neglect", "focal impair awareness cognitive seizure with neglect" ], "alt_id": [], "def": "A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032693", "HP:0032756" ], "is_obsolete": "", "replace_id": "" }, "HP:0032799": { "name": [ "focal impaired awareness hemiclonic seizure", "focal impair awareness hemiclonic seizure" ], "alt_id": [], "def": "A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0006813", "HP:0032725" ], "is_obsolete": "", "replace_id": "" }, "HP:0032800": { "name": [ "focal aware sensory seizure with vestibular features", "focal aware sensory seizure with vestibular feature" ], "alt_id": [], "def": "A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.", "synonym": [], "xref": [], "is_a": [ "HP:0032754", "HP:0032759" ], "is_obsolete": "", "replace_id": "" }, "HP:0032801": { "name": [ "focal impaired awareness cognitive seizure with memory impairment", "focal impair awareness cognitive seizure with memory impairment" ], "alt_id": [], "def": "A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032687", "HP:0032756" ], "is_obsolete": "", "replace_id": "" }, "HP:0032802": { "name": [ "focal impaired awareness cognitive seizure with dyscalculia / acalculia", "focal impair awareness cognitive seizure with dyscalculia / acalculia" ], "alt_id": [], "def": "A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032691", "HP:0032756" ], "is_obsolete": "", "replace_id": "" }, "HP:0032803": { "name": [ "focal impaired awareness cognitive seizure with dysgraphia / agraphia", "focal impair awareness cognitive seizure with dysgraphia / agraphia" ], "alt_id": [], "def": "A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032699", "HP:0032756" ], "is_obsolete": "", "replace_id": "" }, "HP:0032804": { "name": [ "focal impaired awareness sensory seizure with olfactory features", "focal impair awareness sensory seizure with olfactory feature" ], "alt_id": [], "def": "A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0011161", "HP:0032787" ], "is_obsolete": "", "replace_id": "" }, "HP:0032805": { "name": [ "focal impaired awareness sensory seizure with vestibular features", "focal impair awareness sensory seizure with vestibular feature" ], "alt_id": [], "def": "A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032759", "HP:0032787" ], "is_obsolete": "", "replace_id": "" }, "HP:0032806": { "name": [ "focal impaired awareness sensory seizure with visual features", "focal impair awareness sensory seizure with visual feature" ], "alt_id": [], "def": "A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0011165", "HP:0032787" ], "is_obsolete": "", "replace_id": "" }, "HP:0032807": { "name": [ "neonatal seizure", "neonatal seizure" ], "alt_id": [], "def": "A seizure occurring within the neonatal period (28 days beyond the full term date).", "synonym": [], "xref": [], "is_a": [ "HP:0001250" ], "is_obsolete": "", "replace_id": "" }, "HP:0032808": { "name": [ "neonatal seizure with electrographic correlate", "neonatal seizure with electrographic correlate" ], "alt_id": [], "def": "Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0032807" ], "is_obsolete": "", "replace_id": "" }, "HP:0032809": { "name": [ "neonatal electro - clinical seizure", "neonatal electro - clinical seizure" ], "alt_id": [], "def": "Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0032808" ], "is_obsolete": "", "replace_id": "" }, "HP:0032810": { "name": [ "focal sensory seizure with cephalic sensation", "focal sensory seizure with cephalic sensation" ], "alt_id": [], "def": "A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.", "synonym": [ [ "cephalic aura", "cephalic aura" ], [ "focal seizure with cephalic sensation", "focal seizure with cephalic sensation" ], [ "partial seizure with cephalic sensation", "partial seizure with cephalic sensation" ] ], "xref": [], "is_a": [ "HP:0011157" ], "is_obsolete": "", "replace_id": "" }, "HP:0032811": { "name": [ "neonatal electrographic only seizure", "neonatal electrographic only seizure" ], "alt_id": [], "def": "Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation.", "synonym": [], "xref": [], "is_a": [ "HP:0032808" ], "is_obsolete": "", "replace_id": "" }, "HP:0032812": { "name": [ "neonatal electro - clinical non - motor seizure", "neonatal electro - clinical non - motor seizure" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0032809" ], "is_obsolete": "", "replace_id": "" }, "HP:0032813": { "name": [ "neonatal electro - clinical motor seizure", "neonatal electro - clinical motor seizure" ], "alt_id": [], "def": "Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features.", "synonym": [], "xref": [], "is_a": [ "HP:0032809" ], "is_obsolete": "", "replace_id": "" }, "HP:0032814": { "name": [ "neonatal electro - clinical clonic seizure", "neonatal electro - clinical clonic seizure" ], "alt_id": [], "def": "Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric.", "synonym": [ [ "neonatal electroclinical clonic seizure", "neonatal electroclinical clonic seizure" ] ], "xref": [], "is_a": [ "HP:0032813" ], "is_obsolete": "", "replace_id": "" }, "HP:0032815": { "name": [ "neonatal electro - clinical myoclonic seizure", "neonatal electro - clinical myoclonic seizure" ], "alt_id": [], "def": "Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal).", "synonym": [ [ "neonatal electroclinical myoclonic seizure", "neonatal electroclinical myoclonic seizure" ] ], "xref": [], "is_a": [ "HP:0032813" ], "is_obsolete": "", "replace_id": "" }, "HP:0032816": { "name": [ "neonatal multifocal myoclonic seizure", "neonatal multifocal myoclonic seizure" ], "alt_id": [], "def": "Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites.", "synonym": [], "xref": [], "is_a": [ "HP:0032815" ], "is_obsolete": "", "replace_id": "" }, "HP:0032817": { "name": [ "neonatal focal myoclonic seizure", "neonatal focal myoclonic seizure" ], "alt_id": [], "def": "Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally.", "synonym": [], "xref": [], "is_a": [ "HP:0032815" ], "is_obsolete": "", "replace_id": "" }, "HP:0032818": { "name": [ "neonatal focal clonic seizure", "neonatal focal clonic seizure" ], "alt_id": [], "def": "Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups.", "synonym": [], "xref": [], "is_a": [ "HP:0032814" ], "is_obsolete": "", "replace_id": "" }, "HP:0032819": { "name": [ "neonatal bilateral clonic seizure", "neonatal bilateral clonic seizure" ], "alt_id": [], "def": "Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral.", "synonym": [], "xref": [], "is_a": [ "HP:0032814" ], "is_obsolete": "", "replace_id": "" }, "HP:0032820": { "name": [ "neonatal multifocal clonic seizure", "neonatal multifocal clonic seizure" ], "alt_id": [], "def": "Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites.", "synonym": [], "xref": [], "is_a": [ "HP:0032814" ], "is_obsolete": "", "replace_id": "" }, "HP:0032821": { "name": [ "neonatal electro - clinical tonic seizure", "neonatal electro - clinical tonic seizure" ], "alt_id": [], "def": "Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes.", "synonym": [], "xref": [], "is_a": [ "HP:0032813" ], "is_obsolete": "", "replace_id": "" }, "HP:0032822": { "name": [ "neonatal electro - clinical autonomic seizure", "neonatal electro - clinical autonomic seizure" ], "alt_id": [], "def": "Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea.", "synonym": [], "xref": [], "is_a": [ "HP:0032812" ], "is_obsolete": "", "replace_id": "" }, "HP:0032823": { "name": [ "neonatal electro - clinical seizure with behavior arrest", "neonatal electro - clinical seizure with behavior arrest" ], "alt_id": [], "def": "Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations.", "synonym": [ [ "neonatal electro - clinical seizure with behaviour arrest", "neonatal electro - clinical seizure with behaviour arrest" ], [ "neonatal electroclinical seizure with behavioural arrest", "neonatal electroclinical seizure with behavioural arrest" ] ], "xref": [], "is_a": [ "HP:0032812" ], "is_obsolete": "", "replace_id": "" }, "HP:0032824": { "name": [ "neonatal focal tonic seizure", "neonatal focal tonic seizure" ], "alt_id": [], "def": "Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes.", "synonym": [], "xref": [], "is_a": [ "HP:0032821" ], "is_obsolete": "", "replace_id": "" }, "HP:0032825": { "name": [ "neonatal electro - clinical sequential seizure", "neonatal electro - clinical sequential seizure" ], "alt_id": [], "def": "Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.", "synonym": [ [ "neonatal electroclinical sequential seizure", "neonatal electroclinical sequential seizure" ] ], "xref": [], "is_a": [ "HP:0032809" ], "is_obsolete": "", "replace_id": "" }, "HP:0032826": { "name": [ "focal neonatal sequential seizure", "focal neonatal sequential seizure" ], "alt_id": [], "def": "Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures.", "synonym": [], "xref": [], "is_a": [ "HP:0032825" ], "is_obsolete": "", "replace_id": "" }, "HP:0032827": { "name": [ "multifocal neonatal sequential seizure", "multifocal neonatal sequential seizure" ], "alt_id": [], "def": "Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs.", "synonym": [], "xref": [], "is_a": [ "HP:0032825" ], "is_obsolete": "", "replace_id": "" }, "HP:0032828": { "name": [ "neonatal bilateral symmetric tonic seizure", "neonatal bilateral symmetric tonic seizure" ], "alt_id": [], "def": "Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically.", "synonym": [], "xref": [], "is_a": [ "HP:0032821" ], "is_obsolete": "", "replace_id": "" }, "HP:0032829": { "name": [ "neonatal electro - clinical motor seizure with automatism", "neonatal electro - clinical motor seizure with automatism" ], "alt_id": [], "def": "Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features.", "synonym": [ [ "neonatal electroclinical motor seizure with automatism", "neonatal electroclinical motor seizure with automatism" ] ], "xref": [], "is_a": [ "HP:0032813" ], "is_obsolete": "", "replace_id": "" }, "HP:0032830": { "name": [ "neonatal seizure with bilateral asymmetric automatism", "neonatal seizure with bilateral asymmetric automatism" ], "alt_id": [], "def": "Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically.", "synonym": [], "xref": [], "is_a": [ "HP:0032829" ], "is_obsolete": "", "replace_id": "" }, "HP:0032831": { "name": [ "neonatal bilateral asymmetric tonic seizure", "neonatal bilateral asymmetric tonic seizure" ], "alt_id": [], "def": "Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically.", "synonym": [], "xref": [], "is_a": [ "HP:0032821" ], "is_obsolete": "", "replace_id": "" }, "HP:0032832": { "name": [ "neonatal bilateral asymmetric myoclonic seizure", "neonatal bilateral asymmetric myoclonic seizure" ], "alt_id": [], "def": "Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically.", "synonym": [], "xref": [], "is_a": [ "HP:0032815" ], "is_obsolete": "", "replace_id": "" }, "HP:0032833": { "name": [ "neonatal epileptic spasm", "neonatal epileptic spasm" ], "alt_id": [], "def": "A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters.", "synonym": [], "xref": [], "is_a": [ "HP:0032813" ], "is_obsolete": "", "replace_id": "" }, "HP:0032834": { "name": [ "neonatal seizure with unilateral automatism", "neonatal seizure with unilateral automatism" ], "alt_id": [], "def": "Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body.", "synonym": [], "xref": [], "is_a": [ "HP:0032829" ], "is_obsolete": "", "replace_id": "" }, "HP:0032835": { "name": [ "neonatal seizure with bilateral symmetric automatism", "neonatal seizure with bilateral symmetric automatism" ], "alt_id": [], "def": "Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically.", "synonym": [], "xref": [], "is_a": [ "HP:0032829" ], "is_obsolete": "", "replace_id": "" }, "HP:0032836": { "name": [ "neonatal bilateral symmetric myoclonic seizure", "neonatal bilateral symmetric myoclonic seizure" ], "alt_id": [], "def": "Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically.", "synonym": [], "xref": [], "is_a": [ "HP:0032815" ], "is_obsolete": "", "replace_id": "" }, "HP:0032837": { "name": [ "bilateral asymmetric neonatal sequential seizure", "bilateral asymmetric neonatal sequential seizure" ], "alt_id": [], "def": "Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.", "synonym": [], "xref": [], "is_a": [ "HP:0032825" ], "is_obsolete": "", "replace_id": "" }, "HP:0032838": { "name": [ "neonatal unilateral epileptic spasm", "neonatal unilateral epileptic spasm" ], "alt_id": [], "def": "Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body.", "synonym": [], "xref": [], "is_a": [ "HP:0032833" ], "is_obsolete": "", "replace_id": "" }, "HP:0032839": { "name": [ "bilateral symmetric neonatal sequential seizure", "bilateral symmetric neonatal sequential seizure" ], "alt_id": [], "def": "Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs.", "synonym": [], "xref": [], "is_a": [ "HP:0032825" ], "is_obsolete": "", "replace_id": "" }, "HP:0032840": { "name": [ "neonatal bilateral symmetric epileptic spasm", "neonatal bilateral symmetric epileptic spasm" ], "alt_id": [], "def": "Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body.", "synonym": [], "xref": [], "is_a": [ "HP:0032833" ], "is_obsolete": "", "replace_id": "" }, "HP:0032841": { "name": [ "neonatal bilateral asymmetric epileptic spasm", "neonatal bilateral asymmetric epileptic spasm" ], "alt_id": [], "def": "Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body.", "synonym": [], "xref": [], "is_a": [ "HP:0032833" ], "is_obsolete": "", "replace_id": "" }, "HP:0032842": { "name": [ "generalized - onset epileptic spasm", "generalize - onset epileptic spasm" ], "alt_id": [], "def": "A type of epileptic spasm of generalized onset.", "synonym": [ [ "generalised onset epileptic spasm", "generalise onset epileptic spasm" ], [ "generalised - onset epileptic spasm", "generalise - onset epileptic spasm" ], [ "generalized onset epileptic spasm", "generalize onset epileptic spasm" ] ], "xref": [], "is_a": [ "HP:0011097", "HP:0032677" ], "is_obsolete": "", "replace_id": "" }, "HP:0032843": { "name": [ "focal - onset epileptic spasm", "focal - onset epileptic spasm" ], "alt_id": [], "def": "A type of epileptic spasm of focal onset.", "synonym": [ [ "focal onset epileptic spasm", "focal onset epileptic spasm" ] ], "xref": [], "is_a": [ "HP:0011097", "HP:0011153" ], "is_obsolete": "", "replace_id": "" }, "HP:0032844": { "name": [ "focal impaired awareness epileptic spasm", "focal impair awareness epileptic spasm" ], "alt_id": [], "def": "A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032712", "HP:0032843" ], "is_obsolete": "", "replace_id": "" }, "HP:0032845": { "name": [ "focal aware epileptic spasm", "focal aware epileptic spasm" ], "alt_id": [], "def": "A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0020217", "HP:0032843" ], "is_obsolete": "", "replace_id": "" }, "HP:0032846": { "name": [ "focal motor seizure with negative myoclonus", "focal motor seizure with negative myoclonus" ], "alt_id": [], "def": "A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0011153" ], "is_obsolete": "", "replace_id": "" }, "HP:0032847": { "name": [ "focal impaired awareness hemifacial clonic seizure", "focal impair awareness hemifacial clonic seizure" ], "alt_id": [], "def": "Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0007332", "HP:0032725" ], "is_obsolete": "", "replace_id": "" }, "HP:0032848": { "name": [ "focal aware cognitive seizure with neglect", "focal aware cognitive seizure with neglect" ], "alt_id": [], "def": "A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032681", "HP:0032693" ], "is_obsolete": "", "replace_id": "" }, "HP:0032849": { "name": [ "aphasic status epilepticus", "aphasic status epilepticus" ], "alt_id": [], "def": "Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit.", "synonym": [], "xref": [], "is_a": [ "HP:0032673" ], "is_obsolete": "", "replace_id": "" }, "HP:0032850": { "name": [ "focal aware cognitive seizure with expressive dysphasia / aphasia", "focal aware cognitive seizure with expressive dysphasia / aphasia" ], "alt_id": [], "def": "A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032681", "HP:0032702" ], "is_obsolete": "", "replace_id": "" }, "HP:0032851": { "name": [ "focal aware sensory seizure with visual features", "focal aware sensory seizure with visual feature" ], "alt_id": [], "def": "A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis.", "synonym": [], "xref": [], "is_a": [ "HP:0011165", "HP:0032754" ], "is_obsolete": "", "replace_id": "" }, "HP:0032852": { "name": [ "focal impaired awareness cognitive seizure with conduction dysphasia / aphasia", "focal impair awareness cognitive seizure with conduction dysphasia / aphasia" ], "alt_id": [], "def": "A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032698", "HP:0032756" ], "is_obsolete": "", "replace_id": "" }, "HP:0032853": { "name": [ "focal impaired awareness sensory seizure with hot - cold sensations", "focal impair awareness sensory seizure with hot - cold sensation" ], "alt_id": [], "def": "A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032760", "HP:0032787" ], "is_obsolete": "", "replace_id": "" }, "HP:0032854": { "name": [ "focal aware hemifacial clonic seizure", "focal aware hemifacial clonic seizure" ], "alt_id": [], "def": "Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0007332", "HP:0032711" ], "is_obsolete": "", "replace_id": "" }, "HP:0032855": { "name": [ "photosensitive myoclonic - tonic - clonic seizure", "photosensitive myoclonic - tonic - clonic seizure" ], "alt_id": [], "def": "Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light.", "synonym": [ [ "photically induced myoclonic - tonic - clonic seizure", "photically induce myoclonic - tonic - clonic seizure" ] ], "xref": [], "is_a": [ "HP:0020216", "HP:0032795" ], "is_obsolete": "", "replace_id": "" }, "HP:0032856": { "name": [ "focal aware bilateral motor seizure", "focal aware bilateral motor seizure" ], "alt_id": [], "def": "A type of focal bilateral motor seizure during which awareness is fully retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0020217", "HP:0032715" ], "is_obsolete": "", "replace_id": "" }, "HP:0032857": { "name": [ "focal aware motor seizure with negative myoclonus", "focal aware motor seizure with negative myoclonus" ], "alt_id": [], "def": "A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure.", "synonym": [ [ "focal motor aware seizure with negative myoclonus", "focal motor aware seizure with negative myoclonus" ] ], "xref": [], "is_a": [ "HP:0020217", "HP:0032846" ], "is_obsolete": "", "replace_id": "" }, "HP:0032858": { "name": [ "focal impaired awareness motor seizure with negative myoclonus", "focal impair awareness motor seizure with negative myoclonus" ], "alt_id": [], "def": "A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure.", "synonym": [ [ "focal motor impaired awareness seizure with negative myoclonus", "focal motor impair awareness seizure with negative myoclonus" ] ], "xref": [], "is_a": [ "HP:0032712", "HP:0032846" ], "is_obsolete": "", "replace_id": "" }, "HP:0032859": { "name": [ "focal impaired awareness motor seizure with paresis / paralysis", "focal impair awareness motor seizure with paresis / paralysis" ], "alt_id": [], "def": "A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure.", "synonym": [ [ "focal motor impaired awareness seizure with paresis / paralysis", "focal motor impair awareness seizure with paresis / paralysis" ] ], "xref": [], "is_a": [ "HP:0032712", "HP:0032721" ], "is_obsolete": "", "replace_id": "" }, "HP:0032860": { "name": [ "generalized non - convulsive status epilepticus without coma", "generalize non - convulsive status epilepticus without coma" ], "alt_id": [], "def": "Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure.", "synonym": [ [ "absence status epilepticus", "absence status epilepticus" ], [ "generalised non - convulsive status epilepticus without coma", "generalise non - convulsive status epilepticus without coma" ], [ "petit mal status epilepticus", "petit mal status epilepticus" ] ], "xref": [], "is_a": [ "HP:0032671" ], "is_obsolete": "", "replace_id": "" }, "HP:0032861": { "name": [ "focal non - convulsive status epilepticus with impairment of consciousness", "focal non - convulsive status epilepticus with impairment of consciousness" ], "alt_id": [], "def": "Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired.", "synonym": [ [ "focal non - convulsive status epilepticus with impairment of awareness", "focal non - convulsive status epilepticus with impairment of awareness" ] ], "xref": [], "is_a": [ "HP:0032673" ], "is_obsolete": "", "replace_id": "" }, "HP:0032862": { "name": [ "status epilepticus with ictal paresis", "status epilepticus with ictal paresis" ], "alt_id": [], "def": "A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures.", "synonym": [ [ "focal inhibitory status epilepticus", "focal inhibitory status epilepticus" ] ], "xref": [], "is_a": [ "HP:0032663" ], "is_obsolete": "", "replace_id": "" }, "HP:0032863": { "name": [ "typical absence status epilepticus", "typical absence status epilepticus" ], "alt_id": [], "def": "Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure.", "synonym": [ [ "simple absence status epilepticus", "simple absence status epilepticus" ] ], "xref": [], "is_a": [ "HP:0032860" ], "is_obsolete": "", "replace_id": "" }, "HP:0032864": { "name": [ "focal aware sensory seizure with auditory features", "focal aware sensory seizure with auditory feature" ], "alt_id": [], "def": "A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0011158", "HP:0032754" ], "is_obsolete": "", "replace_id": "" }, "HP:0032865": { "name": [ "myoclonic absence status epilepticus", "myoclonic absence status epilepticus" ], "alt_id": [], "def": "Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG.", "synonym": [], "xref": [], "is_a": [ "HP:0032860" ], "is_obsolete": "", "replace_id": "" }, "HP:0032866": { "name": [ "oculoclonic status epilepticus", "oculoclonic status epilepticus" ], "alt_id": [], "def": "A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges.", "synonym": [], "xref": [], "is_a": [ "HP:0032663" ], "is_obsolete": "", "replace_id": "" }, "HP:0032867": { "name": [ "refractory status epilepticus", "refractory status epilepticus" ], "alt_id": [], "def": "Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.", "synonym": [], "xref": [], "is_a": [ "HP:0002133" ], "is_obsolete": "", "replace_id": "" }, "HP:0032868": { "name": [ "super - refractory status epilepticus", "super - refractory status epilepticus" ], "alt_id": [], "def": "Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent.", "synonym": [], "xref": [], "is_a": [ "HP:0032867" ], "is_obsolete": "", "replace_id": "" }, "HP:0032869": { "name": [ "focal non - convulsive status epilepticus without impairment of consciousness", "focal non - convulsive status epilepticus without impairment of consciousness" ], "alt_id": [], "def": "Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact.", "synonym": [ [ "aura continua", "aura continuum" ], [ "focal non - convulsive status epilepticus with retained awareness", "focal non - convulsive status epilepticus with retained awareness" ], [ "focal non - convulsive status epilepticus without impairment of awareness", "focal non - convulsive status epilepticus without impairment of awareness" ] ], "xref": [], "is_a": [ "HP:0032673" ], "is_obsolete": "", "replace_id": "" }, "HP:0032870": { "name": [ "focal impaired awareness cognitive seizure with dyslexia / alexia", "focal impair awareness cognitive seizure with dyslexia / alexia" ], "alt_id": [], "def": "A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032694", "HP:0032756" ], "is_obsolete": "", "replace_id": "" }, "HP:0032871": { "name": [ "focal aware cognitive seizure with hallucination", "focal aware cognitive seizure with hallucination" ], "alt_id": [], "def": "A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0012007", "HP:0032681" ], "is_obsolete": "", "replace_id": "" }, "HP:0032872": { "name": [ "focal impaired awareness cognitive seizure with illusion", "focal impair awareness cognitive seizure with illusion" ], "alt_id": [], "def": "A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0012008", "HP:0032756" ], "is_obsolete": "", "replace_id": "" }, "HP:0032873": { "name": [ "focal aware sensory seizure with cephalic sensation", "focal aware sensory seizure with cephalic sensation" ], "alt_id": [], "def": "A seizure characterized by a sensation in the head such as light-headedness or headache.", "synonym": [], "xref": [], "is_a": [ "HP:0032754", "HP:0032810" ], "is_obsolete": "", "replace_id": "" }, "HP:0032874": { "name": [ "focal impaired awareness cognitive seizure with auditory agnosia", "focal impair awareness cognitive seizure with auditory agnosia" ], "alt_id": [], "def": "A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032685", "HP:0032756" ], "is_obsolete": "", "replace_id": "" }, "HP:0032875": { "name": [ "obsolete focal impaired awareness cognitive seizure with impaired responsiveness", "obsolete focal impaired awareness cognitive seizure with impaired responsiveness" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0032756" }, "HP:0032876": { "name": [ "focal aware cognitive seizure with conduction dysphasia / aphasia", "focal aware cognitive seizure with conduction dysphasia / aphasia" ], "alt_id": [], "def": "A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032681", "HP:0032698" ], "is_obsolete": "", "replace_id": "" }, "HP:0032877": { "name": [ "focal aware sensory seizure with hot - cold sensations", "focal aware sensory seizure with hot - cold sensation" ], "alt_id": [], "def": "A seizure characterized by sensations of feeling hot and then cold.", "synonym": [], "xref": [], "is_a": [ "HP:0032754", "HP:0032760" ], "is_obsolete": "", "replace_id": "" }, "HP:0032878": { "name": [ "focal impaired awareness sensory seizure with cephalic sensation", "focal impair awareness sensory seizure with cephalic sensation" ], "alt_id": [], "def": "A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032787", "HP:0032810" ], "is_obsolete": "", "replace_id": "" }, "HP:0032879": { "name": [ "focal impaired awareness seizure with dissociation at onset", "focal impair awareness seizure with dissociation at onset" ], "alt_id": [], "def": "A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032689", "HP:0032756" ], "is_obsolete": "", "replace_id": "" }, "HP:0032880": { "name": [ "focal impaired awareness sensory seizure with auditory features", "focal impair awareness sensory seizure with auditory feature" ], "alt_id": [], "def": "A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0011158", "HP:0032787" ], "is_obsolete": "", "replace_id": "" }, "HP:0032881": { "name": [ "obsolete focal aware cognitive seizure with impaired responsiveness", "obsolete focal aware cognitive seizure with impaired responsiveness" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0032681" }, "HP:0032882": { "name": [ "focal impaired awareness cognitive seizure with deja vu / jamais vu", "focal impair awareness cognitive seizure with deja vu / jamais vu" ], "alt_id": [], "def": "A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0012004", "HP:0032756" ], "is_obsolete": "", "replace_id": "" }, "HP:0032883": { "name": [ "focal aware cognitive seizure with deja vu / jamais vu", "focal aware cognitive seizure with deja vu / jamais vu" ], "alt_id": [], "def": "A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0012004", "HP:0032681" ], "is_obsolete": "", "replace_id": "" }, "HP:0032884": { "name": [ "focal aware sensory seizure with somatosensory features", "focal aware sensory seizure with somatosensory feature" ], "alt_id": [], "def": "A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0011163", "HP:0032754" ], "is_obsolete": "", "replace_id": "" }, "HP:0032885": { "name": [ "focal impaired awareness cognitive seizure with hallucination", "focal impair awareness cognitive seizure with hallucination" ], "alt_id": [], "def": "A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0012007", "HP:0032756" ], "is_obsolete": "", "replace_id": "" }, "HP:0032886": { "name": [ "focal impaired awareness cognitive seizure with expressive dysphasia / aphasia", "focal impair awareness cognitive seizure with expressive dysphasia / aphasia" ], "alt_id": [], "def": "A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032702", "HP:0032756" ], "is_obsolete": "", "replace_id": "" }, "HP:0032887": { "name": [ "generalized atonic seizure", "generalize atonic seizure" ], "alt_id": [], "def": "Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature.", "synonym": [ [ "generalised atonic seizure", "generalise atonic seizure" ] ], "xref": [], "is_a": [ "HP:0010819", "HP:0032677" ], "is_obsolete": "", "replace_id": "" }, "HP:0032888": { "name": [ "focal impaired awareness cognitive seizure with forced thinking", "focal impair awareness cognitive seizure with forced thinking" ], "alt_id": [], "def": "A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032692", "HP:0032756" ], "is_obsolete": "", "replace_id": "" }, "HP:0032889": { "name": [ "focal aware sensory seizure with gustatory features", "focal aware sensory seizure with gustatory feature" ], "alt_id": [], "def": "A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes.", "synonym": [], "xref": [], "is_a": [ "HP:0011160", "HP:0032754" ], "is_obsolete": "", "replace_id": "" }, "HP:0032890": { "name": [ "focal impaired awareness sensory seizure with somatosensory features", "focal impair awareness sensory seizure with somatosensory feature" ], "alt_id": [], "def": "A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0011163", "HP:0032787" ], "is_obsolete": "", "replace_id": "" }, "HP:0032891": { "name": [ "focal aware motor seizure with version", "focal aware motor seizure with version" ], "alt_id": [], "def": "A focal motor seizure with version characterized by retained awareness throughout the seizure.", "synonym": [ [ "focal motor aware seizure with version", "focal motor aware seizure with version" ] ], "xref": [], "is_a": [ "HP:0011175", "HP:0020217" ], "is_obsolete": "", "replace_id": "" }, "HP:0032892": { "name": [ "infection - related seizure", "infection - related seizure" ], "alt_id": [], "def": "Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.", "synonym": [], "xref": [], "is_a": [ "HP:0001250" ], "is_obsolete": "", "replace_id": "" }, "HP:0032893": { "name": [ "gastroenteritis - related afebrile seizure", "gastroenteritis - relate afebrile seizure" ], "alt_id": [], "def": "Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause.", "synonym": [], "xref": [], "is_a": [ "HP:0032892" ], "is_obsolete": "", "replace_id": "" }, "HP:0032894": { "name": [ "seizure precipitated by febrile infection", "seizure precipitate by febrile infection" ], "alt_id": [], "def": "Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.", "synonym": [ [ "fever induced seizure", "fever induced seizure" ] ], "xref": [], "is_a": [ "HP:0032892" ], "is_obsolete": "", "replace_id": "" }, "HP:0032895": { "name": [ "febrile seizure outside the age of 3 months to 6 years", "febrile seizure outside the age of 3 month to 6 year" ], "alt_id": [], "def": "Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032894" ], "is_obsolete": "", "replace_id": "" }, "HP:0032896": { "name": [ "music - induced seizure", "music - induced seizure" ], "alt_id": [], "def": "Seizure precipitated by listening to music or other complex sounds.", "synonym": [], "xref": [], "is_a": [ "HP:0020207" ], "is_obsolete": "", "replace_id": "" }, "HP:0032897": { "name": [ "focal impaired awareness sensory seizure with gustatory features", "focal impair awareness sensory seizure with gustatory feature" ], "alt_id": [], "def": "A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0011160", "HP:0032787" ], "is_obsolete": "", "replace_id": "" }, "HP:0032898": { "name": [ "focal automatism seizure", "focal automatism seizure" ], "alt_id": [], "def": "A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity.", "synonym": [], "xref": [], "is_a": [ "HP:0011153" ], "is_obsolete": "", "replace_id": "" }, "HP:0032899": { "name": [ "focal orofacial automatism seizure", "focal orofacial automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by orofacial automatisms at onset.", "synonym": [], "xref": [], "is_a": [ "HP:0032898" ], "is_obsolete": "", "replace_id": "" }, "HP:0032900": { "name": [ "focal manual automatism seizure", "focal manual automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by manual automatisms at onset.", "synonym": [], "xref": [], "is_a": [ "HP:0032898" ], "is_obsolete": "", "replace_id": "" }, "HP:0032901": { "name": [ "focal pedal automatism seizure", "focal pedal automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.", "synonym": [], "xref": [], "is_a": [ "HP:0032898" ], "is_obsolete": "", "replace_id": "" }, "HP:0032902": { "name": [ "focal perseverative automatism seizure", "focal perseverative automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset.", "synonym": [], "xref": [], "is_a": [ "HP:0032898" ], "is_obsolete": "", "replace_id": "" }, "HP:0032903": { "name": [ "focal vocal automatism seizure", "focal vocal automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.", "synonym": [], "xref": [], "is_a": [ "HP:0032898" ], "is_obsolete": "", "replace_id": "" }, "HP:0032904": { "name": [ "focal verbal automatism seizure", "focal verbal automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset.", "synonym": [], "xref": [], "is_a": [ "HP:0032898" ], "is_obsolete": "", "replace_id": "" }, "HP:0032905": { "name": [ "focal sexual automatism seizure", "focal sexual automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by involuntary sexual behavior at onset.", "synonym": [], "xref": [], "is_a": [ "HP:0032898" ], "is_obsolete": "", "replace_id": "" }, "HP:0032906": { "name": [ "focal head nodding automatism seizure", "focal head nod automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by involuntary head nodding at onset.", "synonym": [], "xref": [], "is_a": [ "HP:0032898" ], "is_obsolete": "", "replace_id": "" }, "HP:0032907": { "name": [ "focal undressing automatism seizure", "focal undress automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by involuntary undressing at onset.", "synonym": [], "xref": [], "is_a": [ "HP:0032898" ], "is_obsolete": "", "replace_id": "" }, "HP:0032908": { "name": [ "focal aware undressing automatism seizure", "focal aware undress automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0032907", "HP:0032910" ], "is_obsolete": "", "replace_id": "" }, "HP:0032909": { "name": [ "focal impaired awareness automatism seizure", "focal impair awareness automatism seizure" ], "alt_id": [], "def": "A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032712", "HP:0032898" ], "is_obsolete": "", "replace_id": "" }, "HP:0032910": { "name": [ "focal aware automatism seizure", "focal aware automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure during which awareness is fully retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0020217", "HP:0032898" ], "is_obsolete": "", "replace_id": "" }, "HP:0032911": { "name": [ "focal aware orofacial automatism seizure", "focal aware orofacial automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0032899", "HP:0032910" ], "is_obsolete": "", "replace_id": "" }, "HP:0032912": { "name": [ "focal aware manual automatism seizure", "focal aware manual automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0032900", "HP:0032910" ], "is_obsolete": "", "replace_id": "" }, "HP:0032913": { "name": [ "focal aware pedal automatism seizure", "focal aware pedal automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.", "synonym": [], "xref": [], "is_a": [ "HP:0032901", "HP:0032910" ], "is_obsolete": "", "replace_id": "" }, "HP:0032914": { "name": [ "focal aware perseverative automatism seizure", "focal aware perseverative automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0032902", "HP:0032910" ], "is_obsolete": "", "replace_id": "" }, "HP:0032915": { "name": [ "focal aware vocal automatism seizure", "focal aware vocal automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0032903", "HP:0032910" ], "is_obsolete": "", "replace_id": "" }, "HP:0032916": { "name": [ "focal aware verbal automatism seizure", "focal aware verbal automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0032904", "HP:0032910" ], "is_obsolete": "", "replace_id": "" }, "HP:0032917": { "name": [ "focal aware sexual automatism seizure", "focal aware sexual automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0032905", "HP:0032910" ], "is_obsolete": "", "replace_id": "" }, "HP:0032918": { "name": [ "focal impaired awareness orofacial automatism seizure", "focal impair awareness orofacial automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset.", "synonym": [], "xref": [], "is_a": [ "HP:0032899", "HP:0032909" ], "is_obsolete": "", "replace_id": "" }, "HP:0032919": { "name": [ "focal aware head nodding automatism seizure", "focal aware head nod automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout.", "synonym": [], "xref": [], "is_a": [ "HP:0032906", "HP:0032910" ], "is_obsolete": "", "replace_id": "" }, "HP:0032920": { "name": [ "focal impaired awareness manual automatism seizure", "focal impair awareness manual automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset.", "synonym": [], "xref": [], "is_a": [ "HP:0032900", "HP:0032909" ], "is_obsolete": "", "replace_id": "" }, "HP:0032921": { "name": [ "focal impaired awareness pedal automatism seizure", "focal impair awareness pedal automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.", "synonym": [], "xref": [], "is_a": [ "HP:0032901", "HP:0032909" ], "is_obsolete": "", "replace_id": "" }, "HP:0032922": { "name": [ "focal impaired awareness perseverative automatism seizure", "focal impair awareness perseverative automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset.", "synonym": [], "xref": [], "is_a": [ "HP:0032902", "HP:0032909" ], "is_obsolete": "", "replace_id": "" }, "HP:0032923": { "name": [ "focal impaired awareness vocal automatism seizure", "focal impair awareness vocal automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.", "synonym": [], "xref": [], "is_a": [ "HP:0032903", "HP:0032909" ], "is_obsolete": "", "replace_id": "" }, "HP:0032924": { "name": [ "focal impaired awareness verbal automatism seizure", "focal impair awareness verbal automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset.", "synonym": [], "xref": [], "is_a": [ "HP:0032904", "HP:0032909" ], "is_obsolete": "", "replace_id": "" }, "HP:0032925": { "name": [ "focal impaired awareness sexual automatism seizure", "focal impair awareness sexual automatism seizure" ], "alt_id": [], "def": "A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset.", "synonym": [], "xref": [], "is_a": [ "HP:0032905", "HP:0032909" ], "is_obsolete": "", "replace_id": "" }, "HP:0032926": { "name": [ "focal impaired awareness head nodding automatism seizure", "focal impair awareness head nod automatism seizure" ], "alt_id": [], "def": "A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset.", "synonym": [], "xref": [], "is_a": [ "HP:0032906", "HP:0032909" ], "is_obsolete": "", "replace_id": "" }, "HP:0032927": { "name": [ "focal impaired awareness undressing automatism seizure", "focal impair awareness undressing automatism seizure" ], "alt_id": [], "def": "A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset.", "synonym": [], "xref": [], "is_a": [ "HP:0032907", "HP:0032909" ], "is_obsolete": "", "replace_id": "" }, "HP:0032928": { "name": [ "elevated csf neurofilamant light chain", "elevate csf neurofilamant light chain" ], "alt_id": [], "def": "Definition: Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases.", "synonym": [], "xref": [], "is_a": [ "HP:0025456" ], "is_obsolete": "", "replace_id": "" }, "HP:0032929": { "name": [ "abnormal chondrocyte morphology", "abnormal chondrocyte morphology" ], "alt_id": [], "def": "Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage.", "synonym": [], "xref": [], "is_a": [ "HP:0002763" ], "is_obsolete": "", "replace_id": "" }, "HP:0032930": { "name": [ "lacunar halos around chondrocytes", "lacunar halo around chondrocytes" ], "alt_id": [], "def": "Concentric rings around the chondrocytes.", "synonym": [], "xref": [], "is_a": [ "HP:0032929" ], "is_obsolete": "", "replace_id": "" }, "HP:0032931": { "name": [ "obsolete focal impaired awareness cognitive seizure with impaired attention", "obsolete focal impaired awareness cognitive seizure with impaired attention" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0032756" }, "HP:0032932": { "name": [ "increased circulating pancreatic triacylglycerol lipase level", "increase circulate pancreatic triacylglycerol lipase level" ], "alt_id": [], "def": "An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma).", "synonym": [ [ "elevated circulating pancreatic triacylglycerol lipase activity", "elevate circulate pancreatic triacylglycerol lipase activity" ] ], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0032933": { "name": [ "airway hyperresponsiveness", "airway hyperresponsiveness" ], "alt_id": [], "def": "An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist.", "synonym": [], "xref": [], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0032934": { "name": [ "spontaneous cerebrospinal fluid leak", "spontaneous cerebrospinal fluid leak" ], "alt_id": [], "def": "A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak).", "synonym": [], "xref": [], "is_a": [ "HP:0010651" ], "is_obsolete": "", "replace_id": "" }, "HP:0032935": { "name": [ "posterior crocodile shagreen of the cornea", "posterior crocodile shagreen of the cornea" ], "alt_id": [], "def": "Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin.", "synonym": [], "xref": [], "is_a": [ "HP:0007881" ], "is_obsolete": "", "replace_id": "" }, "HP:0032936": { "name": [ "intrusion symptom", "intrusion symptom" ], "alt_id": [], "def": "Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context.", "synonym": [ [ "re - experiencing symptom", "re - experience symptom" ] ], "xref": [], "is_a": [ "HP:0033676" ], "is_obsolete": "", "replace_id": "" }, "HP:0032937": { "name": [ "recurrent , involuntary and intrusive distressing memories", "recurrent , involuntary and intrusive distressing memory" ], "alt_id": [], "def": "After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory.", "synonym": [], "xref": [], "is_a": [ "HP:0032936" ], "is_obsolete": "", "replace_id": "" }, "HP:0032938": { "name": [ "recurrent trauma - related distressing dreams", "recurrent trauma - related distressing dream" ], "alt_id": [], "def": "Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events.", "synonym": [], "xref": [], "is_a": [ "HP:0032936" ], "is_obsolete": "", "replace_id": "" }, "HP:0032939": { "name": [ "physiological reactivity to cues", "physiological reactivity to cue" ], "alt_id": [], "def": "Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s).", "synonym": [], "xref": [], "is_a": [ "HP:0032936" ], "is_obsolete": "", "replace_id": "" }, "HP:0032940": { "name": [ "dissociative reaction", "dissociative reaction" ], "alt_id": [], "def": "A disruption and/or discontinuity in the normal integration of consciousness, memory, identity, emotion, perception, body representation, motor control, and behavior. Clinical presentations of dissociation may include a wide variety of symptoms, including experiences of depersonalization, derealisation, emotional numbing, flashbacks of traumatic events, absorption, amnesia, voice hearing, interruptions in awareness, and identity alteration.", "synonym": [], "xref": [], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0032941": { "name": [ "intense psychological distress to cues", "intense psychological distress to cue" ], "alt_id": [], "def": "Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events.", "synonym": [], "xref": [], "is_a": [ "HP:0032936" ], "is_obsolete": "", "replace_id": "" }, "HP:0032942": { "name": [ "avoidance of stimuli associated with traumatic event", "avoidance of stimulus associate with traumatic event" ], "alt_id": [], "def": "Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s).", "synonym": [], "xref": [], "is_a": [ "HP:0033676" ], "is_obsolete": "", "replace_id": "" }, "HP:0032943": { "name": [ "abnormal urine ph", "abnormal urine ph" ], "alt_id": [], "def": "A deviation of urine pH from the normal range of 4.5 to 7.8.", "synonym": [], "xref": [], "is_a": [ "HP:0003110" ], "is_obsolete": "", "replace_id": "" }, "HP:0032944": { "name": [ "alkaline urine", "alkaline urine" ], "alt_id": [], "def": "Urine pH of 8 or higher.", "synonym": [], "xref": [], "is_a": [ "HP:0032943" ], "is_obsolete": "", "replace_id": "" }, "HP:0032945": { "name": [ "renal interstitial inflammation", "renal interstitial inflammation" ], "alt_id": [], "def": "Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells.", "synonym": [], "xref": [], "is_a": [ "HP:0032581" ], "is_obsolete": "", "replace_id": "" }, "HP:0032946": { "name": [ "renal cortical interstitial inflammation", "renal cortical interstitial inflammation" ], "alt_id": [], "def": "Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells.", "synonym": [], "xref": [], "is_a": [ "HP:0032945" ], "is_obsolete": "", "replace_id": "" }, "HP:0032947": { "name": [ "renal medullary interstitial inflammation", "renal medullary interstitial inflammation" ], "alt_id": [], "def": "Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells.", "synonym": [], "xref": [], "is_a": [ "HP:0032945" ], "is_obsolete": "", "replace_id": "" }, "HP:0032948": { "name": [ "renal interstitial fibrosis", "renal interstitial fibrosis" ], "alt_id": [], "def": "The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.", "synonym": [], "xref": [], "is_a": [ "HP:0032581" ], "is_obsolete": "", "replace_id": "" }, "HP:0032949": { "name": [ "renal interstitial calcium phosphate deposits", "renal interstitial calcium phosphate deposit" ], "alt_id": [], "def": "The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits.", "synonym": [], "xref": [], "is_a": [ "HP:0032644" ], "is_obsolete": "", "replace_id": "" }, "HP:0032950": { "name": [ "abnormal renal tubular lumen morphology", "abnormal renal tubular lumen morphology" ], "alt_id": [], "def": "Abnormal structure or form of the lumen (opening) of kidney tubules.", "synonym": [ [ "abnormal renal tubular luminal morphology", "abnormal renal tubular luminal morphology" ] ], "xref": [], "is_a": [ "HP:0000091" ], "is_obsolete": "", "replace_id": "" }, "HP:0032951": { "name": [ "renal tubular viral cytopathic changes", "renal tubular viral cytopathic change" ], "alt_id": [], "def": "Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells.", "synonym": [], "xref": [], "is_a": [ "HP:0000091" ], "is_obsolete": "", "replace_id": "" }, "HP:0032952": { "name": [ "usual - type tubular atrophy", "usual - type tubular atrophy" ], "alt_id": [], "def": "A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis.", "synonym": [ [ "common - type renal tubular atrophy", "common - type renal tubular atrophy" ] ], "xref": [], "is_a": [ "HP:0000092" ], "is_obsolete": "", "replace_id": "" }, "HP:0032953": { "name": [ "renal tubular cytomegalovirus inclusions", "renal tubular cytomegalovirus inclusion" ], "alt_id": [], "def": "Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages.", "synonym": [], "xref": [], "is_a": [ "HP:0032951" ], "is_obsolete": "", "replace_id": "" }, "HP:0032954": { "name": [ "renal tubular adenovirus inclusions", "renal tubular adenovirus inclusion" ], "alt_id": [], "def": "Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage.", "synonym": [], "xref": [], "is_a": [ "HP:0032951" ], "is_obsolete": "", "replace_id": "" }, "HP:0032955": { "name": [ "renal tubular polyoma virus inclusions", "renal tubular polyoma virus inclusion" ], "alt_id": [], "def": "Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection.", "synonym": [], "xref": [], "is_a": [ "HP:0032951" ], "is_obsolete": "", "replace_id": "" }, "HP:0032956": { "name": [ "renal tubular herpes simplex virus inclusions", "renal tubular herpes simplex virus inclusion" ], "alt_id": [], "def": "Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis.", "synonym": [], "xref": [], "is_a": [ "HP:0032951" ], "is_obsolete": "", "replace_id": "" }, "HP:0032957": { "name": [ "dysmorphic hematuria", "dysmorphic hematuria" ], "alt_id": [], "def": "The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria.", "synonym": [ [ "acanthocyturia", "acanthocyturia" ] ], "xref": [], "is_a": [ "HP:0000790" ], "is_obsolete": "", "replace_id": "" }, "HP:0032958": { "name": [ "urinary oval fat bodies", "urinary oval fat body" ], "alt_id": [], "def": "The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets.", "synonym": [], "xref": [], "is_a": [ "HP:0012614" ], "is_obsolete": "", "replace_id": "" }, "HP:0032959": { "name": [ "intratubular calcium oxalate casts", "intratubular calcium oxalate cast" ], "alt_id": [], "def": "Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0032623" ], "is_obsolete": "", "replace_id": "" }, "HP:0032960": { "name": [ "intratubular calcium phosphate casts", "intratubular calcium phosphate cast" ], "alt_id": [], "def": "Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0032623" ], "is_obsolete": "", "replace_id": "" }, "HP:0032961": { "name": [ "magnesium ammonium phosphate crystalluria", "magnesium ammonium phosphate crystalluria" ], "alt_id": [], "def": "Magnesium ammonium phosphate crystals in the urine.", "synonym": [ [ "struvite urinary crystals", "struvite urinary crystal" ] ], "xref": [], "is_a": [ "HP:0020074" ], "is_obsolete": "", "replace_id": "" }, "HP:0032962": { "name": [ "tubular microcystic change", "tubular microcystic change" ], "alt_id": [], "def": "Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border.", "synonym": [], "xref": [], "is_a": [ "HP:0032950" ], "is_obsolete": "", "replace_id": "" }, "HP:0032963": { "name": [ "complex renal cyst", "complex renal cyst" ], "alt_id": [], "def": "A renal cyst characterized by epithelium lined space (squamous/columnar) with septations.", "synonym": [], "xref": [], "is_a": [ "HP:0000107" ], "is_obsolete": "", "replace_id": "" }, "HP:0032964": { "name": [ "uric acid crystalluria", "uric acid crystalluria" ], "alt_id": [], "def": "The presence of uric acid crystals in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0020074" ], "is_obsolete": "", "replace_id": "" }, "HP:0032965": { "name": [ "interstitial emphysema", "interstitial emphysema" ], "alt_id": [], "def": "Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts.", "synonym": [], "xref": [], "is_a": [ "HP:0002097" ], "is_obsolete": "", "replace_id": "" }, "HP:0032966": { "name": [ "centrilobular emphysema", "centrilobular emphysema" ], "alt_id": [], "def": "A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones.", "synonym": [ [ "centriacinar emphysema", "centriacinar emphysema" ] ], "xref": [], "is_a": [ "HP:0002097" ], "is_obsolete": "", "replace_id": "" }, "HP:0032967": { "name": [ "panacinar emphysema", "panacinar emphysema" ], "alt_id": [], "def": "Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis.", "synonym": [], "xref": [], "is_a": [ "HP:0002097" ], "is_obsolete": "", "replace_id": "" }, "HP:0032968": { "name": [ "expiratory air trapping", "expiratory air trap" ], "alt_id": [], "def": "Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration.", "synonym": [], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0032969": { "name": [ "traction bronchiectasis", "traction bronchiectasis" ], "alt_id": [], "def": "Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts.", "synonym": [], "xref": [], "is_a": [ "HP:0025426" ], "is_obsolete": "", "replace_id": "" }, "HP:0032970": { "name": [ "traction bronchiolectasis", "traction bronchiolectasis" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0025426" ], "is_obsolete": "", "replace_id": "" }, "HP:0032971": { "name": [ "computed tomographic halo sign", "compute tomographic halo sign" ], "alt_id": [], "def": "CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm.", "synonym": [ [ "ct halo sign", "ct halo sign" ] ], "xref": [], "is_a": [ "HP:0025179" ], "is_obsolete": "", "replace_id": "" }, "HP:0032972": { "name": [ "nodular - centrilobular without tree - in - bud pattern on pulmonary hrct", "nodular - centrilobular without tree - in - bud pattern on pulmonary hrct" ], "alt_id": [], "def": "A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases.", "synonym": [], "xref": [], "is_a": [ "HP:0025392" ], "is_obsolete": "", "replace_id": "" }, "HP:0032973": { "name": [ "abnormal bronchoalveolar lavage fluid morphology", "abnormal bronchoalveolar lavage fluid morphology" ], "alt_id": [], "def": "Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions.", "synonym": [], "xref": [], "is_a": [ "HP:0002088" ], "is_obsolete": "", "replace_id": "" }, "HP:0032974": { "name": [ "abnormal cellular composition of bronchoalveolar fluid", "abnormal cellular composition of bronchoalveolar fluid" ], "alt_id": [], "def": "Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%.", "synonym": [ [ "abnormal cell differential of broncho - alveolar fluid", "abnormal cell differential of broncho - alveolar fluid" ] ], "xref": [], "is_a": [ "HP:0032973" ], "is_obsolete": "", "replace_id": "" }, "HP:0032975": { "name": [ "abnormal bronchoalveolar fluid protein level", "abnormal bronchoalveolar fluid protein level" ], "alt_id": [], "def": "Any deviation from the normal concentration of protein in the bronchoalveolar fluid.", "synonym": [ [ "abnormal biochemical composition of broncho - alveolar fluid", "abnormal biochemical composition of broncho - alveolar fluid" ], [ "abnormal level of proteins in the broncho - alveolar fluid", "abnormal level of protein in the broncho - alveolar fluid" ] ], "xref": [], "is_a": [ "HP:0032973" ], "is_obsolete": "", "replace_id": "" }, "HP:0032976": { "name": [ "elevated bronchoalveolar lavage fluid lymphocyte proportion", "elevate bronchoalveolar lavage fluid lymphocyte proportion" ], "alt_id": [], "def": "Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.", "synonym": [], "xref": [], "is_a": [ "HP:0032974" ], "is_obsolete": "", "replace_id": "" }, "HP:0032977": { "name": [ "elevated bronchoalveolar lavage fluid neutrophil proportion", "elevate bronchoalveolar lavage fluid neutrophil proportion" ], "alt_id": [], "def": "Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases.", "synonym": [ [ "elevated level of neutrophils in broncho - alveolar lavage fluid", "elevate level of neutrophil in broncho - alveolar lavage fluid" ] ], "xref": [], "is_a": [ "HP:0032974" ], "is_obsolete": "", "replace_id": "" }, "HP:0032978": { "name": [ "lipid - laden macrophages in bronchoalveolar fluid", "lipid - laden macrophage in bronchoalveolar fluid" ], "alt_id": [], "def": "Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions.", "synonym": [], "xref": [], "is_a": [ "HP:0032984" ], "is_obsolete": "", "replace_id": "" }, "HP:0032979": { "name": [ "hemosiderin - laden macrophages in bronchoalveolar fluid", "hemosiderin - laden macrophage in bronchoalveolar fluid" ], "alt_id": [], "def": "Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP).", "synonym": [ [ "accumulation of hemosiderin laden alveolar macrophages", "accumulation of hemosiderin laden alveolar macrophage" ], [ "siderophages in bronchoalveolar fluid", "siderophages in bronchoalveolar fluid" ] ], "xref": [], "is_a": [ "HP:0032984" ], "is_obsolete": "", "replace_id": "" }, "HP:0032980": { "name": [ "absent bronchoalveolar surfactant - protein c", "absent bronchoalveolar surfactant - protein c" ], "alt_id": [], "def": "Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region.", "synonym": [], "xref": [], "is_a": [ "HP:0032975" ], "is_obsolete": "", "replace_id": "" }, "HP:0032981": { "name": [ "absent bronchoalveolar dimeric surfactant - protein b", "absent bronchoalveolar dimeric surfactant - protein b" ], "alt_id": [], "def": "Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid.", "synonym": [], "xref": [], "is_a": [ "HP:0032975" ], "is_obsolete": "", "replace_id": "" }, "HP:0032982": { "name": [ "obsolete intraalveolar phospholipid accumulation", "obsolete intraalveolar phospholipid accumulation" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0006517" }, "HP:0032983": { "name": [ "atoll sign", "atoll sign" ], "alt_id": [], "def": "CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis.", "synonym": [ [ "reversed halo sign", "reverse halo sign" ] ], "xref": [], "is_a": [ "HP:0025179" ], "is_obsolete": "", "replace_id": "" }, "HP:0032984": { "name": [ "abnormal alveolar macrophage morphology", "abnormal alveolar macrophage morphology" ], "alt_id": [], "def": "Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles.", "synonym": [], "xref": [], "is_a": [ "HP:0032974" ], "is_obsolete": "", "replace_id": "" }, "HP:0032985": { "name": [ "dust particle inclusion in alveolar macrophages", "dust particle inclusion in alveolar macrophage" ], "alt_id": [], "def": "Accumulation of inhaled, nondigestable particles in macrophages.", "synonym": [], "xref": [], "is_a": [ "HP:0032984" ], "is_obsolete": "", "replace_id": "" }, "HP:0032986": { "name": [ "smoker - inclusions in alveolar macrophages", "smoker - inclusion in alveolar macrophage" ], "alt_id": [], "def": "In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits.", "synonym": [], "xref": [], "is_a": [ "HP:0032984" ], "is_obsolete": "", "replace_id": "" }, "HP:0032987": { "name": [ "elevated bronchoalveolar lavage fluid eosinophil proportion", "elevate bronchoalveolar lavage fluid eosinophil proportion" ], "alt_id": [], "def": "Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced.", "synonym": [], "xref": [], "is_a": [ "HP:0032974" ], "is_obsolete": "", "replace_id": "" }, "HP:0032988": { "name": [ "persistent head lag", "persistent head lag" ], "alt_id": [], "def": "The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes.", "synonym": [ [ "head lag", "head lag" ], [ "headlag", "headlag" ] ], "xref": [], "is_a": [ "HP:0001270" ], "is_obsolete": "", "replace_id": "" }, "HP:0032989": { "name": [ "delayed ability to roll over", "delay ability to roll over" ], "alt_id": [], "def": "Delayed ahcievement of the ability to roll front to back and back to front.", "synonym": [], "xref": [], "is_a": [ "HP:0002194" ], "is_obsolete": "", "replace_id": "" }, "HP:0032990": { "name": [ "localized pulmonary hemorrhage", "localize pulmonary hemorrhage" ], "alt_id": [], "def": "Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder.", "synonym": [ [ "localised pulmonary haemorrhage", "localise pulmonary haemorrhage" ] ], "xref": [], "is_a": [ "HP:0040223" ], "is_obsolete": "", "replace_id": "" }, "HP:0032991": { "name": [ "abnormal pulmonary fissure morphology", "abnormal pulmonary fissure morphology" ], "alt_id": [], "def": "An abnormal form or number of the pulmonary fissures.", "synonym": [], "xref": [], "is_a": [ "HP:0002103", "HP:4000059" ], "is_obsolete": "", "replace_id": "" }, "HP:0032992": { "name": [ "abnormal pulmonary fissure architecture", "abnormal pulmonary fissure architecture" ], "alt_id": [], "def": "An abnormal form or location of a pulmonary fissure.", "synonym": [], "xref": [], "is_a": [ "HP:0032991" ], "is_obsolete": "", "replace_id": "" }, "HP:0032993": { "name": [ "abnormal pulmonary fissure count", "abnormal pulmonary fissure count" ], "alt_id": [], "def": "A deviation from the normal number of pulmonary fissures.", "synonym": [], "xref": [], "is_a": [ "HP:0032991" ], "is_obsolete": "", "replace_id": "" }, "HP:0032994": { "name": [ "supernumerary pulmonary fissure", "supernumerary pulmonary fissure" ], "alt_id": [], "def": "Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes.", "synonym": [ [ "increased pulmonary fissure count", "increase pulmonary fissure count" ] ], "xref": [], "is_a": [ "HP:0032993" ], "is_obsolete": "", "replace_id": "" }, "HP:0032995": { "name": [ "decreased pulmonary fissure count", "decrease pulmonary fissure count" ], "alt_id": [], "def": "Lack of one or more of the normal pulmonary fissures.", "synonym": [ [ "reduced pulmonary fissure count", "reduce pulmonary fissure count" ] ], "xref": [], "is_a": [ "HP:0032993" ], "is_obsolete": "", "replace_id": "" }, "HP:0032996": { "name": [ "abnormal cystatin c level", "abnormal cystatin c level" ], "alt_id": [], "def": "Any deviation from the normal concentration of cystatin C in serum or plasma.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0032997": { "name": [ "decreased cystatin c level", "decrease cystatin c level" ], "alt_id": [], "def": "A decreased concentration of cystatin C in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0032996" ], "is_obsolete": "", "replace_id": "" }, "HP:0032998": { "name": [ "increased cystatin c level", "increase cystatin c level" ], "alt_id": [], "def": "A elevated concentration of cystatin C in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0032996" ], "is_obsolete": "", "replace_id": "" }, "HP:0032999": { "name": [ "increased fecal porphyrin", "increased fecal porphyrin" ], "alt_id": [], "def": "Abnormally high concentration of fecal porphyrins in feces.", "synonym": [ [ "increased faecal porphyrin", "increased faecal porphyrin" ] ], "xref": [], "is_a": [ "HP:0031685" ], "is_obsolete": "", "replace_id": "" }, "HP:0033000": { "name": [ "subglottic laryngitis", "subglottic laryngitis" ], "alt_id": [], "def": "Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure.", "synonym": [ [ "croup", "croup" ], [ "laryngitis", "laryngitis" ], [ "pseudocroup", "pseudocroup" ], [ "spasmodic croup", "spasmodic croup" ], [ "subglottic laryngitis", "subglottic laryngitis" ], [ "viral croup", "viral croup" ] ], "xref": [], "is_a": [ "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0033001": { "name": [ "laryngeal papilloma", "laryngeal papilloma" ], "alt_id": [], "def": "A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx.", "synonym": [ [ "laryngeal papillomas", "laryngeal papilloma" ], [ "laryngeal papillomatosis", "laryngeal papillomatosis" ] ], "xref": [], "is_a": [ "HP:0100605" ], "is_obsolete": "", "replace_id": "" }, "HP:0033002": { "name": [ "bronchial papilloma", "bronchial papilloma" ], "alt_id": [], "def": "A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus.", "synonym": [], "xref": [], "is_a": [ "HP:0030077" ], "is_obsolete": "", "replace_id": "" }, "HP:0033003": { "name": [ "tracheal papilloma", "tracheal papilloma" ], "alt_id": [], "def": "A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea.", "synonym": [], "xref": [], "is_a": [ "HP:0100551" ], "is_obsolete": "", "replace_id": "" }, "HP:0033004": { "name": [ "palmar warts", "palmar wart" ], "alt_id": [], "def": "Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV).", "synonym": [], "xref": [], "is_a": [ "HP:0040211" ], "is_obsolete": "", "replace_id": "" }, "HP:0033005": { "name": [ "plantar warts", "plantar wart" ], "alt_id": [], "def": "Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV).", "synonym": [], "xref": [], "is_a": [ "HP:0100872" ], "is_obsolete": "", "replace_id": "" }, "HP:0033006": { "name": [ "diffuse alveolar damage", "diffuse alveolar damage" ], "alt_id": [], "def": "Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation.", "synonym": [], "xref": [], "is_a": [ "HP:0033137" ], "is_obsolete": "", "replace_id": "" }, "HP:0033007": { "name": [ "architectural distortion of the lung", "architectural distortion of the lung" ], "alt_id": [], "def": "Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss.", "synonym": [], "xref": [], "is_a": [ "HP:0002088" ], "is_obsolete": "", "replace_id": "" }, "HP:0033008": { "name": [ "increased z - disc width", "increase z - disc width" ], "alt_id": [], "def": "Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005).", "synonym": [ [ "increased z - disk width", "increase z - disk width" ], [ "widened z - discs", "widen z - disc" ] ], "xref": [], "is_a": [ "HP:0020202" ], "is_obsolete": "", "replace_id": "" }, "HP:0033009": { "name": [ "increased fecal coproporphyrin 1", "increased fecal coproporphyrin 1" ], "alt_id": [], "def": "Abnormally high concentration of coproporphyrin 3 in feces.", "synonym": [ [ "elevated faecal coproporphyrin 1", "elevated faecal coproporphyrin 1" ], [ "elevated fecal coproporphyrin 1", "elevated fecal coproporphyrin 1" ], [ "elevated stool coproporphyrin 1", "elevate stool coproporphyrin 1" ], [ "high faecal coproporphyrin 1", "high faecal coproporphyrin 1" ], [ "high fecal coproporphyrin 1", "high fecal coproporphyrin 1" ], [ "high stool coproporphyrin 1", "high stool coproporphyrin 1" ], [ "increased faecal coproporphyrin 1", "increased faecal coproporphyrin 1" ] ], "xref": [], "is_a": [ "HP:0032999" ], "is_obsolete": "", "replace_id": "" }, "HP:0033010": { "name": [ "increased fecal coproporphyrin 3", "increased fecal coproporphyrin 3" ], "alt_id": [], "def": "Abnormally high concentration of coproporphyrin 3 in feces", "synonym": [ [ "elevated faecal coproporphyrin 3", "elevated faecal coproporphyrin 3" ], [ "elevated fecal coproporphyrin 3", "elevated fecal coproporphyrin 3" ], [ "elevated stool coproporphyrin 3", "elevate stool coproporphyrin 3" ], [ "high faecal coproporphyrin 3", "high faecal coproporphyrin 3" ], [ "high fecal coproporphyrin 3", "high fecal coproporphyrin 3" ], [ "high stool coproporphyrin 3", "high stool coproporphyrin 3" ], [ "increased faecal coproporphyrin 3", "increased faecal coproporphyrin 3" ] ], "xref": [], "is_a": [ "HP:0032999" ], "is_obsolete": "", "replace_id": "" }, "HP:0033011": { "name": [ "platystencephaly", "platystencephaly" ], "alt_id": [], "def": "Extreme width of the skull in the occipital region, with anterior narrowing and prognathism.", "synonym": [], "xref": [], "is_a": [ "HP:0002648" ], "is_obsolete": "", "replace_id": "" }, "HP:0033012": { "name": [ "abnormal salivary metabolite concentration", "abnormal salivary metabolite concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a metabolite in saliva.", "synonym": [], "xref": [], "is_a": [ "HP:0001939" ], "is_obsolete": "", "replace_id": "" }, "HP:0033013": { "name": [ "abnormal salivary cortisol level", "abnormal salivary cortisol level" ], "alt_id": [], "def": "Any deviation from the normal concentration of cortisol in saliva.", "synonym": [], "xref": [], "is_a": [ "HP:0033012" ], "is_obsolete": "", "replace_id": "" }, "HP:0033014": { "name": [ "decreased salivary cortisol level", "decrease salivary cortisol level" ], "alt_id": [], "def": "Abnormally reduced concentration of cortisol in saliva.", "synonym": [], "xref": [], "is_a": [ "HP:0033013" ], "is_obsolete": "", "replace_id": "" }, "HP:0033015": { "name": [ "increased salivary cortisol level", "increase salivary cortisol level" ], "alt_id": [], "def": "Abnormally elevated concentration of cortisol in saliva.", "synonym": [], "xref": [], "is_a": [ "HP:0033013" ], "is_obsolete": "", "replace_id": "" }, "HP:0033016": { "name": [ "chronic decreased circulating igd", "chronic decrease circulate igd" ], "alt_id": [], "def": "A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood.", "synonym": [ [ "chronic decreased igm in blood", "chronic decrease igm in blood" ] ], "xref": [], "is_a": [ "HP:0410245" ], "is_obsolete": "", "replace_id": "" }, "HP:0033017": { "name": [ "transient decreased circulating igd", "transient decrease circulate igd" ], "alt_id": [], "def": "A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation.", "synonym": [ [ "transient decreaseed igd in blood", "transient decreaseed igd in blood" ] ], "xref": [], "is_a": [ "HP:0410245" ], "is_obsolete": "", "replace_id": "" }, "HP:0033018": { "name": [ "chronic absent circulating igd", "chronic absent circulate igd" ], "alt_id": [], "def": "A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured.", "synonym": [ [ "chronic ( near ) absent igm in blood", "chronic ( near ) absent igm in blood" ] ], "xref": [], "is_a": [ "HP:0410245" ], "is_obsolete": "", "replace_id": "" }, "HP:0033019": { "name": [ "male reproductive system neoplasm", "male reproductive system neoplasm" ], "alt_id": [], "def": "A neoplasm that affects the male reproductive system.", "synonym": [], "xref": [ "NCIT:C3054" ], "is_a": [ "HP:0010787" ], "is_obsolete": "", "replace_id": "" }, "HP:0033020": { "name": [ "female reproductive system neoplasm", "female reproductive system neoplasm" ], "alt_id": [], "def": "A neoplasm that affects the female reproductive system.", "synonym": [], "xref": [ "NCIT:C3053" ], "is_a": [ "HP:0010787" ], "is_obsolete": "", "replace_id": "" }, "HP:0033021": { "name": [ "transient decreased circulating ige", "transient decrease circulate ige" ], "alt_id": [], "def": "A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.", "synonym": [ [ "transient decreased ige in blood", "transient decrease ige in blood" ] ], "xref": [], "is_a": [ "HP:0005479" ], "is_obsolete": "", "replace_id": "" }, "HP:0033022": { "name": [ "chronic decreased circulating ige", "chronic decrease circulate ige" ], "alt_id": [], "def": "A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.", "synonym": [ [ "chronic decreased ige in blood", "chronic decrease ige in blood" ] ], "xref": [], "is_a": [ "HP:0005479" ], "is_obsolete": "", "replace_id": "" }, "HP:0033023": { "name": [ "chronic absent circulating ige", "chronic absent circulate ige" ], "alt_id": [], "def": "A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured.", "synonym": [ [ "chronic ( near ) absent ige in blood", "chronic ( near ) absent ige in blood" ] ], "xref": [], "is_a": [ "HP:0005479" ], "is_obsolete": "", "replace_id": "" }, "HP:0033024": { "name": [ "transient decreased circulating iga", "transient decrease circulate iga" ], "alt_id": [], "def": "A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0002720" ], "is_obsolete": "", "replace_id": "" }, "HP:0033025": { "name": [ "chronic absent circulating total igg", "chronic absent circulate total igg" ], "alt_id": [], "def": "A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured.", "synonym": [ [ "chronic ( near ) absent total igg in blood", "chronic ( near ) absent total igg in blood" ] ], "xref": [], "is_a": [ "HP:0032132" ], "is_obsolete": "", "replace_id": "" }, "HP:0033026": { "name": [ "white oral mucosal macule", "white oral mucosal macule" ], "alt_id": [], "def": "A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.", "synonym": [], "xref": [], "is_a": [ "HP:0100669" ], "is_obsolete": "", "replace_id": "" }, "HP:0033027": { "name": [ "retinal peau d'orange", "retinal peau d'orange" ], "alt_id": [], "def": "A pebbly orange appearance of the fundus that is said to resemble the skin of an orange.", "synonym": [], "xref": [], "is_a": [ "HP:0000479" ], "is_obsolete": "", "replace_id": "" }, "HP:0033028": { "name": [ "anti - ribonucleoprotein antibody positivity", "anti - ribonucleoprotein antibody positivity" ], "alt_id": [], "def": "The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.\\n\\nComment: High titers of anti-RNP antibodies are diagnostic of mixed connective tissue disorder (MCTD). Anti-RNP antibodies can also be found in patients with systemic lupus erythematosus (SLE).", "synonym": [ [ "anti - rnp - antibodies", "anti - rnp - antibody" ], [ "anti - scl - 34 antibody positivity", "anti - scl - 34 antibody positivity" ], [ "anti - u3 ribonucleoprotein antibody positivity", "anti - u3 ribonucleoprotein antibody positivity" ] ], "xref": [], "is_a": [ "HP:0033476" ], "is_obsolete": "", "replace_id": "" }, "HP:0033029": { "name": [ "anti - jo - 1 antibody positivity", "anti - jo - 1 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the serum that react to the histidyl-tRNA-synthetase.", "synonym": [], "xref": [], "is_a": [ "HP:0033476" ], "is_obsolete": "", "replace_id": "" }, "HP:0033030": { "name": [ "anti - glomerular basement membrane - antibody positivity", "anti - glomerular basement membrane - antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the serum that react to the glomerular basement membrane.", "synonym": [ [ "anti - gbm - antibody positivity", "anti - gbm - antibody positivity" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0033031": { "name": [ "hyperpyrexia", "hyperpyrexia" ], "alt_id": [], "def": "An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit).", "synonym": [], "xref": [], "is_a": [ "HP:0001945" ], "is_obsolete": "", "replace_id": "" }, "HP:0033032": { "name": [ "triggered by an abusive adult", "trigger by an abusive adult" ], "alt_id": [], "def": "Applies to a sign or symptom that is induced by an abusive adult (usually a parent).", "synonym": [ [ "munchausen syndrome by proxy", "munchausen syndrome by proxy" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0033033": { "name": [ "anti - mda5 antibody positivity", "anti - mda5 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5).", "synonym": [ [ "increased level of anti - melanoma differentiation - associated protein 5 antibodies", "increase level of anti - melanoma differentiation - associate protein 5 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0033034": { "name": [ "anti - citrullinated protein antibody positivity", "anti - citrullinated protein antibody positivity" ], "alt_id": [], "def": "The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0033035": { "name": [ "abnormal schwann cell morphology", "abnormal schwann cell morphology" ], "alt_id": [], "def": "Abormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function.", "synonym": [ [ "abnormal neurilemmal cell morphology", "abnormal neurilemmal cell morphology" ], [ "abnormal neurilemmocyte morphology", "abnormal neurilemmocyte morphology" ] ], "xref": [], "is_a": [ "HP:0100705" ], "is_obsolete": "", "replace_id": "" }, "HP:0033036": { "name": [ "decreased nasal nitric oxide", "decrease nasal nitric oxide" ], "alt_id": [], "def": "Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.", "synonym": [ [ "low nasal nitric oxide level", "low nasal nitric oxide level" ] ], "xref": [], "is_a": [ "HP:0002795" ], "is_obsolete": "", "replace_id": "" }, "HP:0033037": { "name": [ "migratory arthritis", "migratory arthritis" ], "alt_id": [], "def": "", "synonym": [ [ "migratory polyarthritis", "migratory polyarthritis" ] ], "xref": [], "is_a": [ "HP:0001369" ], "is_obsolete": "", "replace_id": "" }, "HP:0033038": { "name": [ "anti - rna - polymerase - iii - autoantibody positivity", "anti - rna - polymerase - iii - autoantibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the serum that react to RNA-polymerase III.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0033039": { "name": [ "increased circulating precipitin level", "increase circulate precipitin level" ], "alt_id": [], "def": "The presence of high titers of antigen-precipitating IgG in the serum.", "synonym": [ [ "increased level of antigen - precipitating igg antibodies", "increase level of antigen - precipitating igg antibody" ] ], "xref": [], "is_a": [ "HP:0003237" ], "is_obsolete": "", "replace_id": "" }, "HP:0033040": { "name": [ "anti - sm - autoantibody positivity", "anti - sm - autoantibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles.", "synonym": [ [ "anti - smith autoantibody", "anti - smith autoantibody" ] ], "xref": [], "is_a": [ "HP:0033476" ], "is_obsolete": "", "replace_id": "" }, "HP:0033041": { "name": [ "cytokine storm", "cytokine storm" ], "alt_id": [], "def": "Excessive or uncontrolled release of proinflammatory cytokines.", "synonym": [ [ "hypercytokinemia", "hypercytokinemia" ] ], "xref": [], "is_a": [ "HP:0011113" ], "is_obsolete": "", "replace_id": "" }, "HP:0033042": { "name": [ "abnormal chorion morphology", "abnormal chorion morphology" ], "alt_id": [], "def": "Any structural anomaly of the fetal part of the placenta, which is known as the chorion.", "synonym": [], "xref": [], "is_a": [ "HP:0100767" ], "is_obsolete": "", "replace_id": "" }, "HP:0033043": { "name": [ "edematous chorionic villi", "edematous chorionic villus" ], "alt_id": [], "def": "Swelling of the chorionic villi owing to fluid accumulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033042" ], "is_obsolete": "", "replace_id": "" }, "HP:0033044": { "name": [ "motor regression", "motor regression" ], "alt_id": [], "def": "Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones.", "synonym": [ [ "regression of motor skills", "regression of motor skill" ] ], "xref": [], "is_a": [ "HP:0002376" ], "is_obsolete": "", "replace_id": "" }, "HP:0033045": { "name": [ "bipedal edema", "bipedal edema" ], "alt_id": [], "def": "A palpable swelling in both feet and ankles caused by palpable swelling caused by an increase in interstitial fluid volume (excess fulid).", "synonym": [ [ "bipedal oedema", "bipedal oedema" ] ], "xref": [], "is_a": [ "HP:0010741" ], "is_obsolete": "", "replace_id": "" }, "HP:0033046": { "name": [ "michaelis - gutmann bodies", "michaelis - gutmann body" ], "alt_id": [], "def": "Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria.", "synonym": [ [ "malakoplakia", "malakoplakia" ] ], "xref": [], "is_a": [ "HP:0004311" ], "is_obsolete": "", "replace_id": "" }, "HP:0033047": { "name": [ "body ache", "body ache" ], "alt_id": [], "def": "Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body.", "synonym": [], "xref": [], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0033048": { "name": [ "substantia nigra hypointensity on susceptibility - weighted imaging", "substantia nigra hypointensity on susceptibility - weight imaging" ], "alt_id": [], "def": "Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI).", "synonym": [ [ "low signal intensity in the substantia nigra on susceptibility - weighted imaging ( swi )", "low signal intensity in the substantia nigra on susceptibility - weighted imaging ( swi )" ] ], "xref": [], "is_a": [ "HP:0045007" ], "is_obsolete": "", "replace_id": "" }, "HP:0033049": { "name": [ "globus pallidus hypointensity on susceptibility - weighted imaging", "globus pallidus hypointensity on susceptibility - weight imaging" ], "alt_id": [], "def": "Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI).", "synonym": [], "xref": [], "is_a": [ "HP:0002453" ], "is_obsolete": "", "replace_id": "" }, "HP:0033050": { "name": [ "pharyngalgia", "pharyngalgia" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat.", "synonym": [ [ "pharyngodynia", "pharyngodynia" ], [ "sore throat", "sore throat" ], [ "throat discomfort", "throat discomfort" ], [ "throat pain", "throat pain" ] ], "xref": [], "is_a": [ "HP:0012531", "HP:0033152" ], "is_obsolete": "", "replace_id": "" }, "HP:0033051": { "name": [ "impaired executive functioning", "impaired executive functioning" ], "alt_id": [], "def": "A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia.", "synonym": [], "xref": [], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0033052": { "name": [ "psychogenic non - epileptic seizure", "psychogenic non - epileptic seizure" ], "alt_id": [], "def": "Psychogenic non-epileptic seizures (PNES) are an important cause of apparently treatment-resistant epilepsy and remain a major diagnostic challenge in epileptology. The two main PNES groups are panic disorder (also occurring as a reaction in people with epilepsy) and dissociative disorder (pseudoseizure), often developing inpatients with no history of epilepsy. The main markers distinguishing PNES from epileptic seizures are (i) the way the patient tells the story (not focusing on the seizure symptoms, avoidance of the word seizure, etc); (ii) that they are prolonged (many minutes); (iii) associated with hyperventilation and eyes closed; and that they present as treatment-resistant epilepsy despite an often normal intellect and brain imaging.", "synonym": [], "xref": [], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0033053": { "name": [ "pseudoseizure", "pseudoseizure" ], "alt_id": [], "def": "Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges.", "synonym": [], "xref": [], "is_a": [ "HP:0033052" ], "is_obsolete": "", "replace_id": "" }, "HP:0033054": { "name": [ "myoclonic tremor", "myoclonic tremor" ], "alt_id": [], "def": "A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.", "synonym": [], "xref": [], "is_a": [ "HP:0040148" ], "is_obsolete": "", "replace_id": "" }, "HP:0033055": { "name": [ "impaired ability to plan", "impaired ability to plan" ], "alt_id": [], "def": "Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity.", "synonym": [ [ "ineffective planning", "ineffective planning" ] ], "xref": [], "is_a": [ "HP:0033051" ], "is_obsolete": "", "replace_id": "" }, "HP:0033056": { "name": [ "impaired ability to organize", "impaired ability to organize" ], "alt_id": [], "def": "Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine.", "synonym": [ [ "impaired ability to organise", "impaired ability to organise" ] ], "xref": [], "is_a": [ "HP:0033051" ], "is_obsolete": "", "replace_id": "" }, "HP:0033057": { "name": [ "decreased serum terminal complement component", "decrease serum terminal complement component" ], "alt_id": [], "def": "Reduced level of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9.", "synonym": [], "xref": [], "is_a": [ "HP:0004431" ], "is_obsolete": "", "replace_id": "" }, "HP:0033058": { "name": [ "decreased serum complement c7", "decrease serum complement c7" ], "alt_id": [], "def": "A reduced level of the complement component C7 in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033057" ], "is_obsolete": "", "replace_id": "" }, "HP:0033059": { "name": [ "decreased serum complement c6", "decrease serum complement c6" ], "alt_id": [], "def": "A reduced level of the complement component C6 in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033057" ], "is_obsolete": "", "replace_id": "" }, "HP:0033060": { "name": [ "decreased serum complement c5", "decrease serum complement c5" ], "alt_id": [], "def": "A reduced level of the complement component C5 in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033057" ], "is_obsolete": "", "replace_id": "" }, "HP:0033061": { "name": [ "increased factor ix activity", "increase factor ix activity" ], "alt_id": [], "def": "Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.", "synonym": [], "xref": [], "is_a": [ "HP:0033062" ], "is_obsolete": "", "replace_id": "" }, "HP:0033062": { "name": [ "abnormal factor ix activity", "abnormal factor ix activity" ], "alt_id": [], "def": "Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.", "synonym": [], "xref": [], "is_a": [ "HP:0010989" ], "is_obsolete": "", "replace_id": "" }, "HP:0033063": { "name": [ "shortened sleep cycle", "shorten sleep cycle" ], "alt_id": [], "def": "A tendency to sleep less hours than usual while feeling well rested.", "synonym": [ [ "short sleep", "short sleep" ] ], "xref": [], "is_a": [ "HP:0002360" ], "is_obsolete": "", "replace_id": "" }, "HP:0033064": { "name": [ "renal interstitial globotriaosylceramide inclusions", "renal interstitial globotriaosylceramide inclusion" ], "alt_id": [], "def": "Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC).", "synonym": [], "xref": [], "is_a": [ "HP:0032581" ], "is_obsolete": "", "replace_id": "" }, "HP:0033065": { "name": [ "mild albuminuria", "mild albuminuria" ], "alt_id": [], "def": "The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol).", "synonym": [], "xref": [], "is_a": [ "HP:0012592" ], "is_obsolete": "", "replace_id": "" }, "HP:0033066": { "name": [ "severe albuminuria", "severe albuminuria" ], "alt_id": [], "def": "The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol).", "synonym": [ [ "heavy albuminuria", "heavy albuminuria" ] ], "xref": [], "is_a": [ "HP:0012592" ], "is_obsolete": "", "replace_id": "" }, "HP:0033067": { "name": [ "cystine crystalluria", "cystine crystalluria" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0020074" ], "is_obsolete": "", "replace_id": "" }, "HP:0033068": { "name": [ "medication crystalluria", "medication crystalluria" ], "alt_id": [], "def": "A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance.", "synonym": [], "xref": [], "is_a": [ "HP:0020074" ], "is_obsolete": "", "replace_id": "" }, "HP:0033069": { "name": [ "renal interstitial igg4+ plasma cell infiltration", "renal interstitial igg4+ plasma cell infiltration" ], "alt_id": [], "def": "An increased number of IgG4+ plasma cells in the interstitial space of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0032581" ], "is_obsolete": "", "replace_id": "" }, "HP:0033070": { "name": [ "impaired self monitoring", "impaired self monitoring" ], "alt_id": [], "def": "Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior.", "synonym": [], "xref": [], "is_a": [ "HP:0033051" ], "is_obsolete": "", "replace_id": "" }, "HP:0033071": { "name": [ "impaired task monitoring", "impaired task monitoring" ], "alt_id": [], "def": "Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal.", "synonym": [], "xref": [], "is_a": [ "HP:0033051" ], "is_obsolete": "", "replace_id": "" }, "HP:0033072": { "name": [ "abnormal macroscopic urine appearance", "abnormal macroscopic urine appearance" ], "alt_id": [], "def": "Anomalous physical appearance (color, cloudiness, clarity) or odor of urine.", "synonym": [], "xref": [], "is_a": [ "HP:0003110" ], "is_obsolete": "", "replace_id": "" }, "HP:0033073": { "name": [ "urate tophus", "urate tophus" ], "alt_id": [], "def": "Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi.", "synonym": [ [ "urate tophi", "urate tophus" ] ], "xref": [], "is_a": [ "HP:0011356" ], "is_obsolete": "", "replace_id": "" }, "HP:0033074": { "name": [ "steroid - responsive anemia", "steroid - responsive anemia" ], "alt_id": [], "def": "Amelioration of anemia upon treatment with a steroid medication.", "synonym": [ [ "prednisone - responsive anaemia", "prednisone - responsive anaemia" ], [ "prednisone - responsive anemia", "prednisone - responsive anemia" ], [ "steroid - responsive anaemia", "steroid - responsive anaemia" ] ], "xref": [], "is_a": [ "HP:0001903" ], "is_obsolete": "", "replace_id": "" }, "HP:0033075": { "name": [ "inappropriately normal thyroid - stimulating hormone level", "inappropriately normal thyroid - stimulate hormone level" ], "alt_id": [], "def": "A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3.", "synonym": [ [ "inappropriately normal tsh", "inappropriately normal tsh" ] ], "xref": [], "is_a": [ "HP:0031097" ], "is_obsolete": "", "replace_id": "" }, "HP:0033076": { "name": [ "abnormal circulating free t4 level", "abnormal circulate free t4 level" ], "alt_id": [], "def": "A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects.", "synonym": [ [ "abnormal circulating free thyroxine level", "abnormal circulate free thyroxine level" ] ], "xref": [], "is_a": [ "HP:0031508" ], "is_obsolete": "", "replace_id": "" }, "HP:0033077": { "name": [ "increased circulating free t4 level", "increase circulate free t4 level" ], "alt_id": [], "def": "An elevated concentration of free thyroxine (fT4) in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033076" ], "is_obsolete": "", "replace_id": "" }, "HP:0033078": { "name": [ "decreased circulating free t4 level", "decrease circulate free t4 level" ], "alt_id": [], "def": "A reduced concentration of free thyroxine (fT4) in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033076" ], "is_obsolete": "", "replace_id": "" }, "HP:0033079": { "name": [ "aplasia / hypoplasia of the thyroid gland", "aplasia / hypoplasia of the thyroid gland" ], "alt_id": [], "def": "Absence or underdevelopment of the thyroid gland.", "synonym": [], "xref": [], "is_a": [ "HP:0011772" ], "is_obsolete": "", "replace_id": "" }, "HP:0033080": { "name": [ "abnormal tsh response to thyrotrophin - releasing hormone stimulation test", "abnormal tsh response to thyrotrophin - release hormone stimulation test" ], "alt_id": [], "def": "Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test.", "synonym": [ [ "abnormal tsh response to trh stimulation test", "abnormal tsh response to trh stimulation test" ] ], "xref": [], "is_a": [ "HP:0002926" ], "is_obsolete": "", "replace_id": "" }, "HP:0033081": { "name": [ "absent tsh response to thyrotrophin - releasing hormone stimulation test", "absent tsh response to thyrotrophin - release hormone stimulation test" ], "alt_id": [], "def": "Failure to increase serum TSH levels in response to a TRH stimulation test.", "synonym": [], "xref": [], "is_a": [ "HP:0033080" ], "is_obsolete": "", "replace_id": "" }, "HP:0033082": { "name": [ "reduced tsh response to thyrotrophin - releasing hormone stimulation test", "reduce tsh response to thyrotrophin - release hormone stimulation test" ], "alt_id": [], "def": "A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test.", "synonym": [], "xref": [], "is_a": [ "HP:0033080" ], "is_obsolete": "", "replace_id": "" }, "HP:0033083": { "name": [ "increased circulating farnesol concentration", "increase circulate farnesol concentration" ], "alt_id": [], "def": "An elevated level of farnesol in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0003119" ], "is_obsolete": "", "replace_id": "" }, "HP:0033084": { "name": [ "abnormal antral follicle count", "abnormal antral follicle count" ], "alt_id": [], "def": "Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve.", "synonym": [], "xref": [], "is_a": [ "HP:0031066" ], "is_obsolete": "", "replace_id": "" }, "HP:0033085": { "name": [ "reduced antral follicle count", "reduce antral follicle count" ], "alt_id": [], "def": "A count of antral follicles that is lower than normal for age.", "synonym": [], "xref": [], "is_a": [ "HP:0033084" ], "is_obsolete": "", "replace_id": "" }, "HP:0033086": { "name": [ "increased antral follicle count", "increase antral follicle count" ], "alt_id": [], "def": "A count of antral follicles that is higher than normal for age.", "synonym": [], "xref": [], "is_a": [ "HP:0033084" ], "is_obsolete": "", "replace_id": "" }, "HP:0033087": { "name": [ "quotidian fever", "quotidian fever" ], "alt_id": [], "def": "Fever that occurs at daily intervals.", "synonym": [], "xref": [], "is_a": [ "HP:0032323" ], "is_obsolete": "", "replace_id": "" }, "HP:0033088": { "name": [ "valinuria", "valinuria" ], "alt_id": [], "def": "Urine valine level above the normal range.", "synonym": [ [ "increased valine in urine", "increase valine in urine" ] ], "xref": [], "is_a": [ "HP:0033089" ], "is_obsolete": "", "replace_id": "" }, "HP:0033089": { "name": [ "branched - chain aminoaciduria", "branch - chain aminoaciduria" ], "alt_id": [], "def": "An increased level of a branched chain family amino acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033100" ], "is_obsolete": "", "replace_id": "" }, "HP:0033090": { "name": [ "increased aromatic amino acid level in urine", "increase aromatic amino acid level in urine" ], "alt_id": [], "def": "An elevated level of an aromatic amino acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033100" ], "is_obsolete": "", "replace_id": "" }, "HP:0033091": { "name": [ "tyrosinuria", "tyrosinuria" ], "alt_id": [], "def": "An abnormally increased level of tyrosine in the urine.", "synonym": [ [ "increased tyrosine in urine", "increase tyrosine in urine" ] ], "xref": [], "is_a": [ "HP:0033090" ], "is_obsolete": "", "replace_id": "" }, "HP:0033092": { "name": [ "increased urine succinate level", "increase urine succinate level" ], "alt_id": [], "def": "An increase in the level of succinate in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0003215" ], "is_obsolete": "", "replace_id": "" }, "HP:0033093": { "name": [ "increased glutamine family amino acid level in urine", "increase glutamine family amino acid level in urine" ], "alt_id": [], "def": "An elevated level of an glutamine family amino acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033100" ], "is_obsolete": "", "replace_id": "" }, "HP:0033094": { "name": [ "increased urine glutamate level", "increase urine glutamate level" ], "alt_id": [], "def": "An increased concentration of glutamate in the urine.", "synonym": [ [ "increased glutamic acid in urine", "increase glutamic acid in urine" ] ], "xref": [], "is_a": [ "HP:0033093" ], "is_obsolete": "", "replace_id": "" }, "HP:0033095": { "name": [ "increased sulfur amino acid level in urine", "increase sulfur amino acid level in urine" ], "alt_id": [], "def": "An elevated level of a sulfur-containing amino acid in the urine.", "synonym": [ [ "increased sulfur - containing amino acid level in urine", "increase sulfur - contain amino acid level in urine" ], [ "increased sulphur amino acid level in urine", "increase sulphur amino acid level in urine" ] ], "xref": [], "is_a": [ "HP:0033100" ], "is_obsolete": "", "replace_id": "" }, "HP:0033096": { "name": [ "increased aspartate family amino acid level in urine", "increase aspartate family amino acid level in urine" ], "alt_id": [], "def": "An elevated level of an aspartate family amino acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033100" ], "is_obsolete": "", "replace_id": "" }, "HP:0033097": { "name": [ "increased urine proteinogenic amino acid derivative level", "increase urine proteinogenic amino acid derivative level" ], "alt_id": [], "def": "An elevated urine level of a compound that is derived from an amino acid.", "synonym": [], "xref": [], "is_a": [ "HP:0003355" ], "is_obsolete": "", "replace_id": "" }, "HP:0033098": { "name": [ "increased urinary non - proteinogenic amino acid level", "increase urinary non - proteinogenic amino acid level" ], "alt_id": [], "def": "An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.", "synonym": [ [ "elevated urinary non - proteinogenic amino acid level", "elevate urinary non - proteinogenic amino acid level" ] ], "xref": [], "is_a": [ "HP:0003355" ], "is_obsolete": "", "replace_id": "" }, "HP:0033099": { "name": [ "increased serine family amino acid in urine", "increase serine family amino acid in urine" ], "alt_id": [], "def": "An increased level of a serine family amino acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033100" ], "is_obsolete": "", "replace_id": "" }, "HP:0033100": { "name": [ "increased proteinogenic amino acid level in urine", "increase proteinogenic amino acid level in urine" ], "alt_id": [], "def": "An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.", "synonym": [], "xref": [], "is_a": [ "HP:0003355" ], "is_obsolete": "", "replace_id": "" }, "HP:0033101": { "name": [ "elevated urine aconitic acid level", "elevate urine aconitic acid level" ], "alt_id": [], "def": "An abnormally increased level of aconitic acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031980" ], "is_obsolete": "", "replace_id": "" }, "HP:0033102": { "name": [ "monkey wrench femoral neck", "monkey wrench femoral neck" ], "alt_id": [], "def": "The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle.", "synonym": [ [ "monkey wrench appearance of femoral neck", "monkey wrench appearance of femoral neck" ], [ "monkey wrench configuration of the proximal femur", "monkey wrench configuration of the proximal femur" ], [ "swedish key appearance of femoral neck", "swedish key appearance of femoral neck" ], [ "swedish key configuration of the proximal femur", "swedish key configuration of the proximal femur" ] ], "xref": [], "is_a": [ "HP:0003367" ], "is_obsolete": "", "replace_id": "" }, "HP:0033103": { "name": [ "elevated circulating chi3l1 level", "elevate circulate chi3l1 level" ], "alt_id": [], "def": "Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation.", "synonym": [ [ "elevated circulating chitinase 3 - like 1 level", "elevate circulate chitinase 3 - like 1 level" ], [ "elevated circulating ykl40 level", "elevate circulate ykl40 level" ] ], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0033104": { "name": [ "inappropriate absence of fever", "inappropriate absence of fever" ], "alt_id": [], "def": "Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response.", "synonym": [], "xref": [], "is_a": [ "HP:0004370" ], "is_obsolete": "", "replace_id": "" }, "HP:0033105": { "name": [ "interhypothalamic adhesion", "interhypothalamic adhesion" ], "alt_id": [], "def": "An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle.", "synonym": [ [ "hypothalamic adhesion", "hypothalamic adhesion" ] ], "xref": [], "is_a": [ "HP:0012286" ], "is_obsolete": "", "replace_id": "" }, "HP:0033106": { "name": [ "elevated circulating d - dimer concentration", "elevate circulate d - dimer concentration" ], "alt_id": [], "def": "An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.", "synonym": [ [ "elevated d - dimers", "elevate d - dimer" ], [ "elevated fibrin degradation fragment concentration", "elevate fibrin degradation fragment concentration" ] ], "xref": [], "is_a": [ "HP:0040224" ], "is_obsolete": "", "replace_id": "" }, "HP:0033107": { "name": [ "abnormal circulating proteinogenic amino acid concentration", "abnormal circulate proteinogenic amino acid concentration" ], "alt_id": [], "def": "An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.", "synonym": [], "xref": [], "is_a": [ "HP:0003112" ], "is_obsolete": "", "replace_id": "" }, "HP:0033108": { "name": [ "abnormal circulating proteinogenic amino acid derivative concentration", "abnormal circulate proteinogenic amino acid derivative concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid.", "synonym": [], "xref": [], "is_a": [ "HP:0003112" ], "is_obsolete": "", "replace_id": "" }, "HP:0033109": { "name": [ "abnormal circulating non - proteinogenic amino acid concentration", "abnormal circulate non - proteinogenic amino acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.", "synonym": [], "xref": [], "is_a": [ "HP:0003112" ], "is_obsolete": "", "replace_id": "" }, "HP:0033110": { "name": [ "elevated circulating alpha - aminobutyric acid concentration", "elevate circulate alpha - aminobutyric acid concentration" ], "alt_id": [], "def": "An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2.", "synonym": [ [ "elevated circulating homoalanine concentration", "elevate circulate homoalanine concentration" ] ], "xref": [], "is_a": [ "HP:0033109" ], "is_obsolete": "", "replace_id": "" }, "HP:0033111": { "name": [ "3 - hydroxyisovaleric aciduria", "3 - hydroxyisovaleric aciduria" ], "alt_id": [], "def": "Concentration of 3-hydroxyisovaleric acid in the urine above the normal range.", "synonym": [ [ "increased urine 3 - hydroxyisovaleric acid level", "increase urine 3 - hydroxyisovaleric acid level" ] ], "xref": [], "is_a": [ "HP:0001992" ], "is_obsolete": "", "replace_id": "" }, "HP:0033112": { "name": [ "elevated circulating apolipoprotein c - iii concentration", "elevate circulate apolipoprotein c - iii concentration" ], "alt_id": [], "def": "An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons.", "synonym": [ [ "elevated apoc3 level", "elevate apoc3 level" ], [ "elevated apolipoprotein c - iii level", "elevate apolipoprotein c - iii level" ] ], "xref": [], "is_a": [ "HP:0033460" ], "is_obsolete": "", "replace_id": "" }, "HP:0033113": { "name": [ "gallop rhythm", "gallop rhythm" ], "alt_id": [], "def": "In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse.", "synonym": [ [ "triple rhythm", "triple rhythm" ] ], "xref": [], "is_a": [ "HP:0031657" ], "is_obsolete": "", "replace_id": "" }, "HP:0033114": { "name": [ "quadruple gallop rhythm", "quadruple gallop rhythm" ], "alt_id": [], "def": "A type of gallop rhytm in which both the third and the fourth sounds are present.", "synonym": [], "xref": [], "is_a": [ "HP:0033113" ], "is_obsolete": "", "replace_id": "" }, "HP:0033115": { "name": [ "elevated circulating tenascin - c level", "elevate circulate tenascin - c level" ], "alt_id": [], "def": "Abnormally increased concentration of tenascin-C in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0033116": { "name": [ "duodenal gastric metaplasia", "duodenal gastric metaplasia" ], "alt_id": [], "def": "Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border.", "synonym": [], "xref": [], "is_a": [ "HP:0002246" ], "is_obsolete": "", "replace_id": "" }, "HP:0033117": { "name": [ "duodenitis", "duodenitis" ], "alt_id": [], "def": "Inflammation of the lining of the upper small intestine (duodenum).", "synonym": [], "xref": [], "is_a": [ "HP:0002246" ], "is_obsolete": "", "replace_id": "" }, "HP:0033118": { "name": [ "abnormal right ventricular function", "abnormal right ventricular function" ], "alt_id": [], "def": "Anomalous physiology (function) of the right ventricle.", "synonym": [], "xref": [], "is_a": [ "HP:0030872" ], "is_obsolete": "", "replace_id": "" }, "HP:0033119": { "name": [ "elevated right ventricular systolic pressure", "elevate right ventricular systolic pressure" ], "alt_id": [], "def": "Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg.", "synonym": [], "xref": [], "is_a": [ "HP:0033118" ], "is_obsolete": "", "replace_id": "" }, "HP:0033120": { "name": [ "nummular eczema", "nummular eczema" ], "alt_id": [], "def": "A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet", "synonym": [ [ "discoid eczema", "discoid eczema" ], [ "nummular dermatitis", "nummular dermatitis" ] ], "xref": [], "is_a": [ "HP:0000964" ], "is_obsolete": "", "replace_id": "" }, "HP:0033121": { "name": [ "barking cough", "barking cough" ], "alt_id": [], "def": "A cough with a characteristic sound that has been compared to a seal's bark.", "synonym": [ [ "seal - like barking cough", "seal - like bark cough" ] ], "xref": [], "is_a": [ "HP:0012735" ], "is_obsolete": "", "replace_id": "" }, "HP:0033122": { "name": [ "absent p wave", "absent p wave" ], "alt_id": [], "def": "The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present.", "synonym": [ [ "absence of p wave on electrocardiography", "absence of p wave on electrocardiography" ] ], "xref": [], "is_a": [ "HP:0031595" ], "is_obsolete": "", "replace_id": "" }, "HP:0033123": { "name": [ "elevated circulating osteopontin level", "elevate circulate osteopontin level" ], "alt_id": [], "def": "Abnormally increased level of osteopontin in the blood circulation", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0033124": { "name": [ "increased serum sorbitol concentration", "increase serum sorbitol concentration" ], "alt_id": [], "def": "An increased level of sorbitol in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0011013" ], "is_obsolete": "", "replace_id": "" }, "HP:0033125": { "name": [ "follicular lymphoma", "follicular lymphoma" ], "alt_id": [], "def": "An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement.", "synonym": [], "xref": [], "is_a": [ "HP:0012191" ], "is_obsolete": "", "replace_id": "" }, "HP:0033126": { "name": [ "cutaneous necrosis", "cutaneous necrosis" ], "alt_id": [], "def": "Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin.", "synonym": [ [ "skin necrosis", "skin necrosis" ] ], "xref": [], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0033127": { "name": [ "abnormality of the musculoskeletal system", "abnormality of the musculoskeletal system" ], "alt_id": [], "def": "An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.", "synonym": [], "xref": [], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0033128": { "name": [ "delayed ability to crawl", "delay ability to crawl" ], "alt_id": [], "def": "A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months.", "synonym": [], "xref": [], "is_a": [ "HP:0002194" ], "is_obsolete": "", "replace_id": "" }, "HP:0033129": { "name": [ "abnormal shoulder physiology", "abnormal shoulder physiology" ], "alt_id": [], "def": "Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm.", "synonym": [], "xref": [], "is_a": [ "HP:0011843" ], "is_obsolete": "", "replace_id": "" }, "HP:0033130": { "name": [ "abnormal renal echogenicity", "abnormal renal echogenicity" ], "alt_id": [], "def": "Anomalous echogenicity of the kidney on ultrasound examination.", "synonym": [], "xref": [], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0033131": { "name": [ "renal medullary hyperechogenicity", "renal medullary hyperechogenicity" ], "alt_id": [], "def": "Increased echogenecity of the medullary region of the kidney.", "synonym": [ [ "increased renal medullary echogenicity", "increase renal medullary echogenicity" ] ], "xref": [], "is_a": [ "HP:0033130" ], "is_obsolete": "", "replace_id": "" }, "HP:0033132": { "name": [ "renal cortical hyperechogenicity", "renal cortical hyperechogenicity" ], "alt_id": [], "def": "Increased echogenecity of the kidney cortex.", "synonym": [], "xref": [], "is_a": [ "HP:0033130" ], "is_obsolete": "", "replace_id": "" }, "HP:0033133": { "name": [ "renal cortical hypoechogeneity", "renal cortical hypoechogeneity" ], "alt_id": [], "def": "", "synonym": [ [ "hypoechogenic renal cortex", "hypoechogenic renal cortex" ] ], "xref": [], "is_a": [ "HP:0033130" ], "is_obsolete": "", "replace_id": "" }, "HP:0033134": { "name": [ "abdominal adhesions", "abdominal adhesion" ], "alt_id": [], "def": "Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane).", "synonym": [ [ "intra - abdominal adhesion", "intra - abdominal adhesion" ] ], "xref": [], "is_a": [ "HP:0001438" ], "is_obsolete": "", "replace_id": "" }, "HP:0033135": { "name": [ "hepatic infarction", "hepatic infarction" ], "alt_id": [], "def": "Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography.", "synonym": [], "xref": [], "is_a": [ "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0033136": { "name": [ "lymph node abscess", "lymph node abscess" ], "alt_id": [], "def": "An inflammed lymph node that is filled with pus.", "synonym": [], "xref": [], "is_a": [ "HP:0002733" ], "is_obsolete": "", "replace_id": "" }, "HP:0033137": { "name": [ "abnormal pulmonary alveolar system morphology", "abnormal pulmonary alveolar system morphology" ], "alt_id": [], "def": "A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli.", "synonym": [], "xref": [], "is_a": [ "HP:0002088" ], "is_obsolete": "", "replace_id": "" }, "HP:0033138": { "name": [ "right atrial thrombus", "right atrial thrombus" ], "alt_id": [], "def": "A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart.", "synonym": [], "xref": [], "is_a": [ "HP:0025580" ], "is_obsolete": "", "replace_id": "" }, "HP:0033139": { "name": [ "elevated circulating uracil concentration", "elevate circulate uracil concentration" ], "alt_id": [], "def": "Concentration of uracil in the blood is above the normal range.", "synonym": [], "xref": [], "is_a": [ "HP:0004353" ], "is_obsolete": "", "replace_id": "" }, "HP:0033140": { "name": [ "blake 's pouch cyst", "blake 's pouch cyst" ], "alt_id": [], "def": "The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna.", "synonym": [], "xref": [], "is_a": [ "HP:0000932" ], "is_obsolete": "", "replace_id": "" }, "HP:0033141": { "name": [ "severe sars - cov - 2 infection", "severe sars - cov - 2 infection" ], "alt_id": [], "def": "Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation.", "synonym": [], "xref": [], "is_a": [ "HP:0031691" ], "is_obsolete": "", "replace_id": "" }, "HP:0033142": { "name": [ "long nasal bridge", "long nasal bridge" ], "alt_id": [], "def": "Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.", "synonym": [], "xref": [], "is_a": [ "HP:0000422" ], "is_obsolete": "", "replace_id": "" }, "HP:0033143": { "name": [ "jejunitis", "jejunitis" ], "alt_id": [], "def": "Inflammation of the lining of the middle section of the small intestine.", "synonym": [], "xref": [], "is_a": [ "HP:0005265" ], "is_obsolete": "", "replace_id": "" }, "HP:0033144": { "name": [ "abnormal circulating ceruloplasmin concentration", "abnormal circulate ceruloplasmin concentration" ], "alt_id": [], "def": "Any deviation of the concentration of ceruloplasmin in the blood from the normal range.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0033145": { "name": [ "increased circulating ceruloplasmin concentration", "increase circulate ceruloplasmin concentration" ], "alt_id": [], "def": "Elevated concentration of ceruloplasmin in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033144" ], "is_obsolete": "", "replace_id": "" }, "HP:0033146": { "name": [ "elevated circulating methylsuccinic acid concentration", "elevate circulate methylsuccinic acid concentration" ], "alt_id": [], "def": "Increased concentration of methylsuccinic acid in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010995" ], "is_obsolete": "", "replace_id": "" }, "HP:0033147": { "name": [ "abnormal circulating short - chain fatty - acid concentration", "abnormal circulate short - chain fatty - acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0004359" ], "is_obsolete": "", "replace_id": "" }, "HP:0033148": { "name": [ "increased circulating isovaleric acid concentration", "increase circulate isovaleric acid concentration" ], "alt_id": [], "def": "Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration.", "synonym": [ [ "increased circulating isovalerate", "increase circulating isovalerate" ], [ "isovalericacidemia", "isovalericacidemia" ] ], "xref": [], "is_a": [ "HP:0033147" ], "is_obsolete": "", "replace_id": "" }, "HP:0033149": { "name": [ "intrahepatic bile duct dilatation", "intrahepatic bile duct dilatation" ], "alt_id": [], "def": "Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).", "synonym": [ [ "dilatation of intrahepatic biliary ducts", "dilatation of intrahepatic biliary duct" ] ], "xref": [], "is_a": [ "HP:0011040" ], "is_obsolete": "", "replace_id": "" }, "HP:0033150": { "name": [ "anorectal abscess", "anorectal abscess" ], "alt_id": [], "def": "An abscess located at the junction of the anal canal and the rectum.", "synonym": [], "xref": [], "is_a": [ "HP:0002034", "HP:0025615" ], "is_obsolete": "", "replace_id": "" }, "HP:0033151": { "name": [ "abnormal pharynx morphology", "abnormal pharynx morphology" ], "alt_id": [], "def": "A structural anomaly of the pharynx.", "synonym": [], "xref": [], "is_a": [ "HP:0000600" ], "is_obsolete": "", "replace_id": "" }, "HP:0033152": { "name": [ "abnormal pharynx physiology", "abnormal pharynx physiology" ], "alt_id": [], "def": "A functional anomaly of the pharynx.", "synonym": [], "xref": [], "is_a": [ "HP:0000600" ], "is_obsolete": "", "replace_id": "" }, "HP:0033153": { "name": [ "elevated circulating dodecenoylcarnitine concentration", "elevate circulate dodecenoylcarnitine concentration" ], "alt_id": [], "def": "An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation.", "synonym": [ [ "elevated plasma dodecenoylcarnitine concentration", "elevate plasma dodecenoylcarnitine concentration" ] ], "xref": [], "is_a": [ "HP:0033109" ], "is_obsolete": "", "replace_id": "" }, "HP:0033154": { "name": [ "elevated circulating deoxypyridinoline concentration", "elevate circulate deoxypyridinoline concentration" ], "alt_id": [], "def": "An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033386" ], "is_obsolete": "", "replace_id": "" }, "HP:0033155": { "name": [ "elevated circulating l - alloisoleucine concentration", "elevate circulate l - alloisoleucine concentration" ], "alt_id": [], "def": "Abnormally increased concentration of L-alloisoleucine in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033108" ], "is_obsolete": "", "replace_id": "" }, "HP:0033156": { "name": [ "elevated urine l - alloisoleucine level", "elevate urine l - alloisoleucine level" ], "alt_id": [], "def": "Abnormally increased level of L-alloisoleucine in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033097" ], "is_obsolete": "", "replace_id": "" }, "HP:0033157": { "name": [ "elevated circulating 3 - methylhistidine concentration", "elevate circulate 3 - methylhistidine concentration" ], "alt_id": [], "def": "Abnormal increase of the concentration of 3-methylhistidine in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033108" ], "is_obsolete": "", "replace_id": "" }, "HP:0033158": { "name": [ "reduced respiratory ciliary beating frequency", "reduce respiratory ciliary beating frequency" ], "alt_id": [], "def": "An abnormal reduction in the number of beats per unit time of the respiratory cilia.", "synonym": [ [ "dminished respiratory ciliary beat frequency", "dminished respiratory ciliary beat frequency" ] ], "xref": [], "is_a": [ "HP:0012261" ], "is_obsolete": "", "replace_id": "" }, "HP:0033159": { "name": [ "reduced urinary inosine level", "reduce urinary inosine level" ], "alt_id": [], "def": "Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond.", "synonym": [], "xref": [], "is_a": [ "HP:0033161" ], "is_obsolete": "", "replace_id": "" }, "HP:0033160": { "name": [ "decreased urinary guanosine level", "decrease urinary guanosine level" ], "alt_id": [], "def": "Decreased level of guanosine in urine. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond.", "synonym": [], "xref": [], "is_a": [ "HP:0033161" ], "is_obsolete": "", "replace_id": "" }, "HP:0033161": { "name": [ "abnormal urinary purine level", "abnormal urinary purine level" ], "alt_id": [], "def": "Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines.", "synonym": [], "xref": [], "is_a": [ "HP:0032572" ], "is_obsolete": "", "replace_id": "" }, "HP:0033162": { "name": [ "abnormal urinary pyrimidine level", "abnormal urinary pyrimidine level" ], "alt_id": [], "def": "Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines.", "synonym": [], "xref": [], "is_a": [ "HP:0032572" ], "is_obsolete": "", "replace_id": "" }, "HP:0033163": { "name": [ "small intestinal bacterial overgrowth", "small intestinal bacterial overgrowth" ], "alt_id": [], "def": "An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml.", "synonym": [], "xref": [], "is_a": [ "HP:0002244" ], "is_obsolete": "", "replace_id": "" }, "HP:0033164": { "name": [ "focal active colitis", "focal active colitis" ], "alt_id": [], "def": "Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation.", "synonym": [], "xref": [], "is_a": [ "HP:0002583" ], "is_obsolete": "", "replace_id": "" }, "HP:0033165": { "name": [ "necrotizing enterocolitis", "necrotizing enterocolitis" ], "alt_id": [], "def": "Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine.", "synonym": [], "xref": [], "is_a": [ "HP:0004387" ], "is_obsolete": "", "replace_id": "" }, "HP:0033166": { "name": [ "recurrent viral upper respiratory tract infections", "recurrent viral upper respiratory tract infection" ], "alt_id": [], "def": "An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis).", "synonym": [], "xref": [], "is_a": [ "HP:0002788", "HP:0004429" ], "is_obsolete": "", "replace_id": "" }, "HP:0033167": { "name": [ "neutrophilic urticarial dermatosis", "neutrophilic urticarial dermatosis" ], "alt_id": [], "def": "A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present.", "synonym": [], "xref": [], "is_a": [ "HP:0001025" ], "is_obsolete": "", "replace_id": "" }, "HP:0033168": { "name": [ "reduced mevalonate kinase activity", "reduce mevalonate kinase activity" ], "alt_id": [], "def": "Abnormally reduced activity of mevalonate kinase, ,which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids.", "synonym": [], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0033169": { "name": [ "reduced total lung capacity", "reduce total lung capacity" ], "alt_id": [], "def": "Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration.", "synonym": [ [ "reduced tlc", "reduce tlc" ] ], "xref": [], "is_a": [ "HP:0030878" ], "is_obsolete": "", "replace_id": "" }, "HP:0033170": { "name": [ "abnormal skinfold thickness measurement", "abnormal skinfold thickness measurement" ], "alt_id": [], "def": "Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers.", "synonym": [], "xref": [], "is_a": [ "HP:0004323" ], "is_obsolete": "", "replace_id": "" }, "HP:0033171": { "name": [ "abnormal triceps skinfold thickness", "abnormal triceps skinfold thickness" ], "alt_id": [], "def": "Any deviation from the normal range of the thickness of the tricpes skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers.", "synonym": [], "xref": [], "is_a": [ "HP:0033170" ], "is_obsolete": "", "replace_id": "" }, "HP:0033172": { "name": [ "increased triceps skinfold thickness", "increase triceps skinfold thickness" ], "alt_id": [], "def": "Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased.", "synonym": [], "xref": [], "is_a": [ "HP:0033171" ], "is_obsolete": "", "replace_id": "" }, "HP:0033173": { "name": [ "milky appearance of bronchoalveolar lavage fluid", "milky appearance of bronchoalveolar lavage fluid" ], "alt_id": [], "def": "Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space.", "synonym": [], "xref": [], "is_a": [ "HP:0032973" ], "is_obsolete": "", "replace_id": "" }, "HP:0033174": { "name": [ "bloody bronchoalveolar lavage fluid", "bloody bronchoalveolar lavage fluid" ], "alt_id": [], "def": "Return of lavage fluid characteristically has a bloody apperance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding.", "synonym": [], "xref": [], "is_a": [ "HP:0032973" ], "is_obsolete": "", "replace_id": "" }, "HP:0033175": { "name": [ "elevated circulating 5 - oxoproline concentration", "elevate circulate 5 - oxoproline concentration" ], "alt_id": [], "def": "Concentration of L-pyroglutamic acid in the blood is above the normal range.", "synonym": [ [ "elevated circulating l - pyroglutamic acid concentration", "elevate circulate l - pyroglutamic acid concentration" ] ], "xref": [], "is_a": [ "HP:0033108" ], "is_obsolete": "", "replace_id": "" }, "HP:0033176": { "name": [ "submandibular lymph node enlargement", "submandibular lymph node enlargement" ], "alt_id": [], "def": "Increased size of the lymph nodes that are located beneath the mandible (lower jaw).", "synonym": [ [ "submandibular lymphadenopathy", "submandibular lymphadenopathy" ] ], "xref": [], "is_a": [ "HP:0002716" ], "is_obsolete": "", "replace_id": "" }, "HP:0033177": { "name": [ "elevated circulating suberic acid concentration", "elevate circulate suberic acid concentration" ], "alt_id": [], "def": "An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane.", "synonym": [], "xref": [], "is_a": [ "HP:0010995" ], "is_obsolete": "", "replace_id": "" }, "HP:0033178": { "name": [ "increased circulating interleukin 8", "increase circulate interleukin 8" ], "alt_id": [], "def": "An increased concentration of interleukin-8 in the circulation.", "synonym": [ [ "increased serum il - 8", "increase serum il - 8" ], [ "increased serum interleukin 8", "increase serum interleukin 8" ], [ "increased serum interleukin - 8", "increase serum interleukin - 8" ] ], "xref": [], "is_a": [ "HP:0030782" ], "is_obsolete": "", "replace_id": "" }, "HP:0033179": { "name": [ "elevated circulating aconitic acid concentration", "elevate circulate aconitic acid concentration" ], "alt_id": [], "def": "An increased concentration of aconitic acid in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0004354" ], "is_obsolete": "", "replace_id": "" }, "HP:0033180": { "name": [ "torsion of appendix of testis", "torsion of appendix of testis" ], "alt_id": [], "def": "The appendix testis or hydatid of Morgagni, is a vestigial remnant of the M\u00fcllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention.", "synonym": [ [ "twisted vestigial remnant of the muellerian duct", "twist vestigial remnant of the muellerian duct" ] ], "xref": [], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0033181": { "name": [ "spinal epidural abscess", "spinal epidural abscess" ], "alt_id": [], "def": "Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect ofthe abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina. Left untreated, the infection can lead to sensory loss,muscle weakness, visceral dysfunction, sepsis, and even death. Early diagnosis is essential to limit mor-bidity and neurologic injury. The classic triad of fever, axial pain, and neurological deficit occurs in as few as 13 percent of patients, highlighting the diagnosticchallenge associated with SEA.", "synonym": [ [ "a severe pyogenic infection of the epidural space", "a severe pyogenic infection of the epidural space" ] ], "xref": [], "is_a": [ "HP:0025615" ], "is_obsolete": "", "replace_id": "" }, "HP:0033182": { "name": [ "increased circulating cathepsin d level", "increase circulate cathepsin d level" ], "alt_id": [], "def": "An increase in concentration of cathepsin D in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0033183": { "name": [ "bilobed right lung", "bilobed right lung" ], "alt_id": [], "def": "A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung.", "synonym": [], "xref": [], "is_a": [ "HP:0002101" ], "is_obsolete": "", "replace_id": "" }, "HP:0033184": { "name": [ "triggered by infection", "trigger by infection" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0033185": { "name": [ "triggered by ebv infection", "trigger by ebv infection" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus.", "synonym": [ [ "triggered by epstein barr virus infection", "trigger by epstein barr virus infection" ] ], "xref": [], "is_a": [ "HP:0033198" ], "is_obsolete": "", "replace_id": "" }, "HP:0033186": { "name": [ "misalignment of the pulmonary veins", "misalignment of the pulmonary vein" ], "alt_id": [], "def": "The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins.", "synonym": [], "xref": [], "is_a": [ "HP:0030968" ], "is_obsolete": "", "replace_id": "" }, "HP:0033187": { "name": [ "hyperimidodipeptiduria", "hyperimidodipeptiduria" ], "alt_id": [], "def": "Elevated levels of proline-containing dipeptides in urine.", "synonym": [ [ "imidodipeptiduria", "imidodipeptiduria" ] ], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0033188": { "name": [ "cystic acne", "cystic acne" ], "alt_id": [], "def": "A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum.", "synonym": [], "xref": [], "is_a": [ "HP:0001061" ], "is_obsolete": "", "replace_id": "" }, "HP:0033189": { "name": [ "radiculomegaly", "radiculomegaly" ], "alt_id": [], "def": "Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length.", "synonym": [ [ "long dental root", "long dental root" ], [ "rhizomegaly", "rhizomegaly" ], [ "root gigantism", "root gigantism" ] ], "xref": [], "is_a": [ "HP:0040220" ], "is_obsolete": "", "replace_id": "" }, "HP:0033190": { "name": [ "hypertrichotic hyperpigmented patch", "hypertrichotic hyperpigmented patch" ], "alt_id": [], "def": "A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth.", "synonym": [ [ "cutaneous hyperpigmentation with overlying hypertrichosis", "cutaneous hyperpigmentation with overlie hypertrichosis" ] ], "xref": [], "is_a": [ "HP:0000953" ], "is_obsolete": "", "replace_id": "" }, "HP:0033191": { "name": [ "increased circulating selenium concentration", "increase circulate selenium concentration" ], "alt_id": [], "def": "An increased concentration of selenium in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0031903" ], "is_obsolete": "", "replace_id": "" }, "HP:0033192": { "name": [ "decreased circulating selenium concentration", "decrease circulate selenium concentration" ], "alt_id": [], "def": "An abnormally reduced concentration of selenium in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0031903" ], "is_obsolete": "", "replace_id": "" }, "HP:0033193": { "name": [ "ballooning hepatocyte degeneration", "ballooning hepatocyte degeneration" ], "alt_id": [], "def": "Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62.", "synonym": [ [ "ballooning degeneration of hepatocytes", "balloon degeneration of hepatocytes" ] ], "xref": [], "is_a": [ "HP:0030146" ], "is_obsolete": "", "replace_id": "" }, "HP:0033194": { "name": [ "perioral erythema", "perioral erythema" ], "alt_id": [], "def": "Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.", "synonym": [], "xref": [], "is_a": [ "HP:0010783" ], "is_obsolete": "", "replace_id": "" }, "HP:0033195": { "name": [ "perianal erythema", "perianal erythema" ], "alt_id": [], "def": "Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus.", "synonym": [], "xref": [], "is_a": [ "HP:0010783" ], "is_obsolete": "", "replace_id": "" }, "HP:0033196": { "name": [ "portal inflammation", "portal inflammation" ], "alt_id": [], "def": "Infiltration of portal fields by inflammatory cells.", "synonym": [ [ "hepatic portal inflammation", "hepatic portal inflammation" ] ], "xref": [], "is_a": [ "HP:0004297" ], "is_obsolete": "", "replace_id": "" }, "HP:0033197": { "name": [ "hepatic lobular inflammation", "hepatic lobular inflammation" ], "alt_id": [], "def": "Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes).", "synonym": [], "xref": [], "is_a": [ "HP:0030146" ], "is_obsolete": "", "replace_id": "" }, "HP:0033198": { "name": [ "triggered by viral infection", "trigger by viral infection" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by infection by a virus.", "synonym": [], "xref": [], "is_a": [ "HP:0033184" ], "is_obsolete": "", "replace_id": "" }, "HP:0033199": { "name": [ "increased circulating interleukin 10", "increase circulate interleukin 10" ], "alt_id": [], "def": "An elevation of the concentration of interleukin 10 in the blood circulation.", "synonym": [ [ "increased serum interleukin 10", "increase serum interleukin 10" ] ], "xref": [], "is_a": [ "HP:0030782" ], "is_obsolete": "", "replace_id": "" }, "HP:0033200": { "name": [ "triceps hyporeflexia", "triceps hyporeflexia" ], "alt_id": [], "def": "Reduced intensity of the triceps tendon reflex.", "synonym": [ [ "hyporeflexia of triceps", "hyporeflexia of triceps" ] ], "xref": [], "is_a": [ "HP:0012391" ], "is_obsolete": "", "replace_id": "" }, "HP:0033201": { "name": [ "biceps hyporeflexia", "biceps hyporeflexia" ], "alt_id": [], "def": "Reduced intensity of the biceps tendon reflex.", "synonym": [ [ "hyporeflexia of biceps", "hyporeflexia of biceps" ] ], "xref": [], "is_a": [ "HP:0012391" ], "is_obsolete": "", "replace_id": "" }, "HP:0033202": { "name": [ "brachioradialis hyporeflexia", "brachioradialis hyporeflexia" ], "alt_id": [], "def": "Reduced intensity of the brachioradialis tendon reflex.", "synonym": [], "xref": [], "is_a": [ "HP:0012391" ], "is_obsolete": "", "replace_id": "" }, "HP:0033203": { "name": [ "brachioradialis hyperreflexia", "brachioradialis hyperreflexia" ], "alt_id": [], "def": "Increased intensity of the brachioradialis reflex.", "synonym": [], "xref": [], "is_a": [ "HP:0007350" ], "is_obsolete": "", "replace_id": "" }, "HP:0033204": { "name": [ "triceps hyperreflexia", "triceps hyperreflexia" ], "alt_id": [], "def": "Increased intensity of the triceps reflex.", "synonym": [], "xref": [], "is_a": [ "HP:0007350" ], "is_obsolete": "", "replace_id": "" }, "HP:0033205": { "name": [ "biceps hyperreflexia", "biceps hyperreflexia" ], "alt_id": [], "def": "Increased intensity of the biceps reflex.", "synonym": [], "xref": [], "is_a": [ "HP:0007350" ], "is_obsolete": "", "replace_id": "" }, "HP:0033206": { "name": [ "hyperactive achilles reflex", "hyperactive achilles reflex" ], "alt_id": [], "def": "Increased intensity of the Achilles reflex.", "synonym": [ [ "hyperactive ankle jerk reflex", "hyperactive ankle jerk reflex" ], [ "hyperactive ankle reflex", "hyperactive ankle reflex" ] ], "xref": [], "is_a": [ "HP:0002395" ], "is_obsolete": "", "replace_id": "" }, "HP:0033207": { "name": [ "increased proportion autoreactive unresponsive cd21 - / low b cells", "increase proportion autoreactive unresponsive cd21 - / low b cell" ], "alt_id": [], "def": "Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures.", "synonym": [], "xref": [], "is_a": [ "HP:0025539" ], "is_obsolete": "", "replace_id": "" }, "HP:0033208": { "name": [ "alveolar capillary dysplasia", "alveolar capillary dysplasia" ], "alt_id": [], "def": "A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis.", "synonym": [], "xref": [], "is_a": [ "HP:4000060" ], "is_obsolete": "", "replace_id": "" }, "HP:0033209": { "name": [ "acinar dysplasia", "acinar dysplasia" ], "alt_id": [], "def": "Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli.", "synonym": [], "xref": [], "is_a": [ "HP:0006703" ], "is_obsolete": "", "replace_id": "" }, "HP:0033210": { "name": [ "congenital alveolar dysplasia", "congenital alveolar dysplasia" ], "alt_id": [], "def": "Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries.", "synonym": [], "xref": [], "is_a": [ "HP:0006703" ], "is_obsolete": "", "replace_id": "" }, "HP:0033211": { "name": [ "decreased total iron binding capacity", "decrease total iron binding capacity" ], "alt_id": [], "def": "A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.", "synonym": [], "xref": [], "is_a": [ "HP:0033212" ], "is_obsolete": "", "replace_id": "" }, "HP:0033212": { "name": [ "abnormal total iron binding capacity", "abnormal total iron binding capacity" ], "alt_id": [], "def": "Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added.", "synonym": [], "xref": [], "is_a": [ "HP:0011031" ], "is_obsolete": "", "replace_id": "" }, "HP:0033213": { "name": [ "elevated urine suberic acid level", "elevate urine suberic acid level" ], "alt_id": [], "def": "An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane.", "synonym": [ [ "elevated urine octanedioic acid level", "elevate urine octanedioic acid level" ] ], "xref": [], "is_a": [ "HP:0003215" ], "is_obsolete": "", "replace_id": "" }, "HP:0033214": { "name": [ "recurrent viral pneumonia", "recurrent viral pneumonia" ], "alt_id": [], "def": "Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias.", "synonym": [], "xref": [], "is_a": [ "HP:0004429", "HP:0006532" ], "is_obsolete": "", "replace_id": "" }, "HP:0033215": { "name": [ "obliterative abnormality of the renal glomerulus", "obliterative abnormality of the renal glomerulus" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0000095" ], "is_obsolete": "", "replace_id": "" }, "HP:0033216": { "name": [ "glomerular hyalinosis", "glomerular hyalinosis" ], "alt_id": [], "def": "Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular.", "synonym": [], "xref": [], "is_a": [ "HP:0033215" ], "is_obsolete": "", "replace_id": "" }, "HP:0033217": { "name": [ "perihilar glomerular hyalinosis", "perihilar glomerular hyalinosis" ], "alt_id": [], "def": "Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum.", "synonym": [], "xref": [], "is_a": [ "HP:0033216" ], "is_obsolete": "", "replace_id": "" }, "HP:0033218": { "name": [ "glomerular hyalinosis at the tubular pole", "glomerular hyalinosis at the tubular pole" ], "alt_id": [], "def": "Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole.", "synonym": [], "xref": [], "is_a": [ "HP:0033216" ], "is_obsolete": "", "replace_id": "" }, "HP:0033219": { "name": [ "glomerular hyalinosis away from the vascular and tubular poles", "glomerular hyalinosis away from the vascular and tubular pole" ], "alt_id": [], "def": "Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section.", "synonym": [], "xref": [], "is_a": [ "HP:0033216" ], "is_obsolete": "", "replace_id": "" }, "HP:0033220": { "name": [ "2 - ethylhydracylic aciduria", "2 - ethylhydracylic aciduria" ], "alt_id": [], "def": "An increased concentration of 2-ethylhydracylic acid in the urine.", "synonym": [ [ "elevated urinary 2 - ethylhydracylic acid", "elevate urinary 2 - ethylhydracylic acid" ], [ "elevated urinary 2 - methylbutyrylglycine", "elevate urinary 2 - methylbutyrylglycine" ] ], "xref": [], "is_a": [ "HP:0040156" ], "is_obsolete": "", "replace_id": "" }, "HP:0033221": { "name": [ "increased cd4 : cd8 ratio", "increase cd4 : cd8 ratio" ], "alt_id": [], "def": "An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells.", "synonym": [], "xref": [], "is_a": [ "HP:0031394" ], "is_obsolete": "", "replace_id": "" }, "HP:0033222": { "name": [ "decreased cd4 : cd8 ratio", "decrease cd4 : cd8 ratio" ], "alt_id": [], "def": "An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.", "synonym": [ [ "inverted cd4 / cd8 ratio", "invert cd4 / cd8 ratio" ], [ "inverted cd4 : cd8 ratio", "invert cd4 : cd8 ratio" ] ], "xref": [], "is_a": [ "HP:0031394" ], "is_obsolete": "", "replace_id": "" }, "HP:0033223": { "name": [ "abnormal glomerular parietal epithelial cell morphology", "abnormal glomerular parietal epithelial cell morphology" ], "alt_id": [], "def": "Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole.", "synonym": [], "xref": [], "is_a": [ "HP:0031264" ], "is_obsolete": "", "replace_id": "" }, "HP:0033224": { "name": [ "glomerular parietal epithelial cell hyperplasia", "glomerular parietal epithelial cell hyperplasia" ], "alt_id": [], "def": "Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering.", "synonym": [ [ "hyperplasia of the glomerular parietal epithelial cell", "hyperplasia of the glomerular parietal epithelial cell" ] ], "xref": [], "is_a": [ "HP:0033223" ], "is_obsolete": "", "replace_id": "" }, "HP:0033225": { "name": [ "glomerular parietal epithelial cell hypertrophy", "glomerular parietal epithelial cell hypertrophy" ], "alt_id": [], "def": "An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present", "synonym": [ [ "hypertrophy of the glomerular parietal epithelial cell", "hypertrophy of the glomerular parietal epithelial cell" ] ], "xref": [], "is_a": [ "HP:0033223" ], "is_obsolete": "", "replace_id": "" }, "HP:0033226": { "name": [ "bowman capsular hyaline drops", "bowman capsular hyaline drop" ], "alt_id": [], "def": "An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material.", "synonym": [ [ "capsular hyaline drops within bowman 's capsule", "capsular hyaline drop within bowman 's capsule" ] ], "xref": [], "is_a": [ "HP:0031264" ], "is_obsolete": "", "replace_id": "" }, "HP:0033227": { "name": [ "glomerular synechial adhesion", "glomerular synechial adhesion" ], "alt_id": [], "def": "An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis.", "synonym": [], "xref": [], "is_a": [ "HP:0033282" ], "is_obsolete": "", "replace_id": "" }, "HP:0033228": { "name": [ "triceps areflexia", "triceps areflexia" ], "alt_id": [], "def": "Inability to elicit triceps tendon reflex.", "synonym": [ [ "areflexia of triceps", "areflexia of triceps" ] ], "xref": [], "is_a": [ "HP:0012046" ], "is_obsolete": "", "replace_id": "" }, "HP:0033229": { "name": [ "brachioradialis areflexia", "brachioradialis areflexia" ], "alt_id": [], "def": "Inability to elicit brachioradialis tendon reflex.", "synonym": [ [ "areflexia of brachioradialis", "areflexia of brachioradialis" ] ], "xref": [], "is_a": [ "HP:0012046" ], "is_obsolete": "", "replace_id": "" }, "HP:0033230": { "name": [ "biceps areflexia", "biceps areflexia" ], "alt_id": [], "def": "Inability to elicit biceps tendon reflex.", "synonym": [ [ "areflexia of biceps", "areflexia of biceps" ] ], "xref": [], "is_a": [ "HP:0012046" ], "is_obsolete": "", "replace_id": "" }, "HP:0033231": { "name": [ "abnormal glomerular mesangial cellularity", "abnormal glomerular mesangial cellularity" ], "alt_id": [], "def": "Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0001966" ], "is_obsolete": "", "replace_id": "" }, "HP:0033232": { "name": [ "abnormal glomerular mesangial matrix morphology", "abnormal glomerular mesangial matrix morphology" ], "alt_id": [], "def": "Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix.", "synonym": [], "xref": [], "is_a": [ "HP:0001966" ], "is_obsolete": "", "replace_id": "" }, "HP:0033233": { "name": [ "paramesangial deposits", "paramesangial deposit" ], "alt_id": [], "def": "Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane.", "synonym": [], "xref": [], "is_a": [ "HP:0001966" ], "is_obsolete": "", "replace_id": "" }, "HP:0033234": { "name": [ "mesangial hyaline deposition", "mesangial hyaline deposition" ], "alt_id": [], "def": "Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material.", "synonym": [], "xref": [], "is_a": [ "HP:0001966" ], "is_obsolete": "", "replace_id": "" }, "HP:0033235": { "name": [ "difficulty descending stairs", "difficulty descend stair" ], "alt_id": [], "def": "Reduced ability to desscend stairs.", "synonym": [ [ "difficulty walking down stairs", "difficulty walk down stair" ] ], "xref": [], "is_a": [ "HP:0004302" ], "is_obsolete": "", "replace_id": "" }, "HP:0033236": { "name": [ "cognitive fatigue", "cognitive fatigue" ], "alt_id": [], "def": "A failure to sustain attention that requires self-motivation to optimize performance.", "synonym": [ [ "central fatigue", "central fatigue" ] ], "xref": [], "is_a": [ "HP:0012378" ], "is_obsolete": "", "replace_id": "" }, "HP:0033237": { "name": [ "visceral epithelial cell detachment", "visceral epithelial cell detachment" ], "alt_id": [], "def": "Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'.", "synonym": [ [ "detachment of visceral epithelial cells", "detachment of visceral epithelial cell" ], [ "podocyte detachment", "podocyte detachment" ] ], "xref": [], "is_a": [ "HP:0031265" ], "is_obsolete": "", "replace_id": "" }, "HP:0033238": { "name": [ "podocyte microvillous transformation", "podocyte microvillous transformation" ], "alt_id": [], "def": "Cytoplasmic projections into the urinary space from the luminal side of the podocyte.", "synonym": [], "xref": [], "is_a": [ "HP:0031265" ], "is_obsolete": "", "replace_id": "" }, "HP:0033239": { "name": [ "visceral epithelial cell capping", "visceral epithelial cell cap" ], "alt_id": [], "def": "Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus.", "synonym": [ [ "podocyte cap", "podocyte cap" ] ], "xref": [], "is_a": [ "HP:0020133" ], "is_obsolete": "", "replace_id": "" }, "HP:0033240": { "name": [ "elevated rv / tlc ratio", "elevate rv / tlc ratio" ], "alt_id": [], "def": "An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation.", "synonym": [ [ "hyperinflation on pulmonary function test", "hyperinflation on pulmonary function test" ], [ "overinflation on pulmonary function test", "overinflation on pulmonary function test" ] ], "xref": [], "is_a": [ "HP:0033772" ], "is_obsolete": "", "replace_id": "" }, "HP:0033241": { "name": [ "polyalveolar lobe", "polyalveolar lobe" ], "alt_id": [], "def": "An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold.", "synonym": [], "xref": [], "is_a": [ "HP:4000060" ], "is_obsolete": "", "replace_id": "" }, "HP:0033242": { "name": [ "horseshoe lung", "horseshoe lung" ], "alt_id": [], "def": "A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac.", "synonym": [], "xref": [], "is_a": [ "HP:0002101" ], "is_obsolete": "", "replace_id": "" }, "HP:0033243": { "name": [ "pulmonary necrosis", "pulmonary necrosis" ], "alt_id": [], "def": "Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components.", "synonym": [], "xref": [], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0033244": { "name": [ "glycogen accumulation in pulmonary interstitial cells", "glycogen accumulation in pulmonary interstitial cell" ], "alt_id": [], "def": "Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells.", "synonym": [], "xref": [], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0033245": { "name": [ "abnormal alveolar type ii pneumocyte morphology", "abnormal alveolar type ii pneumocyte morphology" ], "alt_id": [], "def": "Any structural abnormality of alveolar type 2 (ATII) cells.", "synonym": [ [ "abnormal alveolar epithelial type ii cell morphology", "abnormal alveolar epithelial type ii cell morphology" ], [ "abnormal pulmonary type ii cell morphology", "abnormal pulmonary type ii cell morphology" ], [ "abnormal type ii pneumocyte morphology", "abnormal type ii pneumocyte morphology" ] ], "xref": [], "is_a": [ "HP:0033137" ], "is_obsolete": "", "replace_id": "" }, "HP:0033246": { "name": [ "type ii pneumocyte hypertrophy", "type ii pneumocyte hypertrophy" ], "alt_id": [], "def": "Increase in size of type II pneumocytes.", "synonym": [ [ "hypertrophic alveolar type ii cells", "hypertrophic alveolar type ii cell" ], [ "hypertrophic alveolar type ii pneumocytes", "hypertrophic alveolar type ii pneumocytes" ] ], "xref": [], "is_a": [ "HP:0033245" ], "is_obsolete": "", "replace_id": "" }, "HP:0033247": { "name": [ "pulmonary amyloidosis", "pulmonary amyloidosis" ], "alt_id": [], "def": "Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.", "synonym": [], "xref": [], "is_a": [ "HP:0006530", "HP:0011034" ], "is_obsolete": "", "replace_id": "" }, "HP:0033248": { "name": [ "multiple pulmonary interstitial hyalinized nodules", "multiple pulmonary interstitial hyalinized nodule" ], "alt_id": [], "def": "Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin.", "synonym": [], "xref": [], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0033249": { "name": [ "focal substantia nigra t2 hyperintensity", "focal substantia nigra t2 hyperintensity" ], "alt_id": [], "def": "Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging.", "synonym": [ [ "focal substantia nigra t2 hyperintense lesion", "focal substantia nigra t2 hyperintense lesion" ] ], "xref": [], "is_a": [ "HP:0045007" ], "is_obsolete": "", "replace_id": "" }, "HP:0033250": { "name": [ "nailfold capillary tortuosity", "nailfold capillary tortuosity" ], "alt_id": [], "def": "An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels.", "synonym": [], "xref": [], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0033251": { "name": [ "elevated residual volume", "elevate residual volume" ], "alt_id": [], "def": "Increase in the amount of air remaining in a person's lungs after full exhalation.", "synonym": [ [ "elevated rv", "elevate rv" ] ], "xref": [], "is_a": [ "HP:0033752" ], "is_obsolete": "", "replace_id": "" }, "HP:0033252": { "name": [ "palmar hyperlinearity", "palmar hyperlinearity" ], "alt_id": [], "def": "Exaggerated skin markings (dermatoglyphics) on the palms of the hand.", "synonym": [], "xref": [], "is_a": [ "HP:0040211" ], "is_obsolete": "", "replace_id": "" }, "HP:0033253": { "name": [ "reduced circulating interferon gamma", "reduce circulate interferon gamma" ], "alt_id": [], "def": "A reduction in the concentration of interferon gamma measured in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0030355" ], "is_obsolete": "", "replace_id": "" }, "HP:0033254": { "name": [ "anorectal stricture", "anorectal stricture" ], "alt_id": [], "def": "Narrowing of the anorectum associated with inflammation or scar tissue.", "synonym": [ [ "stricture of the anorectum", "stricture of the anorectum" ] ], "xref": [], "is_a": [ "HP:0012732" ], "is_obsolete": "", "replace_id": "" }, "HP:0033255": { "name": [ "congenital lobar overinflation", "congenital lobar overinflation" ], "alt_id": [], "def": "A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes.", "synonym": [ [ "congenital lobar emphysema", "congenital lobar emphysema" ] ], "xref": [], "is_a": [ "HP:0002101" ], "is_obsolete": "", "replace_id": "" }, "HP:0033256": { "name": [ "pancolitis", "pancolitis" ], "alt_id": [], "def": "Inflammation of the entire colon.", "synonym": [], "xref": [], "is_a": [ "HP:0002583" ], "is_obsolete": "", "replace_id": "" }, "HP:0033257": { "name": [ "delayed ability to walk with support", "delay ability to walk with support" ], "alt_id": [], "def": "A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage.", "synonym": [ [ "delayed ability to cruise", "delay ability to cruise" ] ], "xref": [], "is_a": [ "HP:0002194" ], "is_obsolete": "", "replace_id": "" }, "HP:0033258": { "name": [ "sudden unexpected death in epilepsy", "sudden unexpected death in epilepsy" ], "alt_id": [], "def": "Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.", "synonym": [], "xref": [], "is_a": [ "HP:0001699" ], "is_obsolete": "", "replace_id": "" }, "HP:0033259": { "name": [ "non - motor seizure", "non - motor seizure" ], "alt_id": [], "def": "A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown.", "synonym": [], "xref": [], "is_a": [ "HP:0001250" ], "is_obsolete": "", "replace_id": "" }, "HP:0033260": { "name": [ "livedo racemosa", "livedo racemosa" ], "alt_id": [], "def": "Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming.", "synonym": [], "xref": [], "is_a": [ "HP:0033832" ], "is_obsolete": "", "replace_id": "" }, "HP:0033261": { "name": [ "renal artery aneurysm", "renal artery aneurysm" ], "alt_id": [], "def": "Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment.", "synonym": [], "xref": [], "is_a": [ "HP:0008776" ], "is_obsolete": "", "replace_id": "" }, "HP:0033262": { "name": [ "transphyseal fracture of the distal humerus", "transphyseal fracture of the distal humerus" ], "alt_id": [], "def": "A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis.", "synonym": [ [ "transphyseal distal humerus fracture", "transphyseal distal humerus fracture" ] ], "xref": [], "is_a": [ "HP:0041055" ], "is_obsolete": "", "replace_id": "" }, "HP:0033263": { "name": [ "absent platelet dense granules", "absent platelet dense granule" ], "alt_id": [], "def": "Lack of platelet dense granules, a type of platelet organelles.", "synonym": [ [ "absent platelet dense bodies", "absent platelet dense body" ] ], "xref": [], "is_a": [ "HP:0012530" ], "is_obsolete": "", "replace_id": "" }, "HP:0033264": { "name": [ "enlarged platelet dense granules", "enlarge platelet dense granule" ], "alt_id": [], "def": "Increased size of platelet dense granules.", "synonym": [], "xref": [], "is_a": [ "HP:0012484" ], "is_obsolete": "", "replace_id": "" }, "HP:0033265": { "name": [ "podocyte myelin figures", "podocyte myelin figure" ], "alt_id": [], "def": "Lamellated intracytoplasmic lipid inclusions within podocytes.", "synonym": [ [ "podocyte myelin inclusions", "podocyte myelin inclusion" ] ], "xref": [], "is_a": [ "HP:0031265" ], "is_obsolete": "", "replace_id": "" }, "HP:0033266": { "name": [ "glomerular pseudocrescent", "glomerular pseudocrescent" ], "alt_id": [], "def": "Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact.", "synonym": [], "xref": [], "is_a": [ "HP:0031265" ], "is_obsolete": "", "replace_id": "" }, "HP:0033267": { "name": [ "abnormal glomerular capillary lumen morphology", "abnormal glomerular capillary lumen morphology" ], "alt_id": [], "def": "Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus.", "synonym": [], "xref": [], "is_a": [ "HP:0025006" ], "is_obsolete": "", "replace_id": "" }, "HP:0033268": { "name": [ "deflation of the glomerular tuft", "deflation of the glomerular tuft" ], "alt_id": [], "def": "Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane.", "synonym": [], "xref": [], "is_a": [ "HP:0033267" ], "is_obsolete": "", "replace_id": "" }, "HP:0033269": { "name": [ "glomerular capillary collapse", "glomerular capillary collapse" ], "alt_id": [], "def": "Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs).", "synonym": [ [ "collapse of glomerular capillary walls", "collapse of glomerular capillary wall" ] ], "xref": [], "is_a": [ "HP:0033267" ], "is_obsolete": "", "replace_id": "" }, "HP:0033270": { "name": [ "glomerular capillary congestion", "glomerular capillary congestion" ], "alt_id": [], "def": "Global distention of glomerular capillaries with intraluminal intact red blood cells.", "synonym": [ [ "glomerular congestion", "glomerular congestion" ] ], "xref": [], "is_a": [ "HP:0033267" ], "is_obsolete": "", "replace_id": "" }, "HP:0033271": { "name": [ "glomerular capillary microaneurysm", "glomerular capillary microaneurysm" ], "alt_id": [], "def": "Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis.", "synonym": [], "xref": [], "is_a": [ "HP:0033267" ], "is_obsolete": "", "replace_id": "" }, "HP:0033272": { "name": [ "abnormal glomerular endothelial cell morphology", "abnormal glomerular endothelial cell morphology" ], "alt_id": [], "def": "An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier.", "synonym": [], "xref": [], "is_a": [ "HP:0025006" ], "is_obsolete": "", "replace_id": "" }, "HP:0033273": { "name": [ "loss of glomerular endothelial cell fenestration", "loss of glomerular endothelial cell fenestration" ], "alt_id": [], "def": "Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm.", "synonym": [], "xref": [], "is_a": [ "HP:0033272" ], "is_obsolete": "", "replace_id": "" }, "HP:0033274": { "name": [ "glomerular endotheliosis", "glomerular endotheliosis" ], "alt_id": [], "def": "Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen.", "synonym": [], "xref": [], "is_a": [ "HP:0033272" ], "is_obsolete": "", "replace_id": "" }, "HP:0033275": { "name": [ "glomerular endothelial tubuloreticular inclusion", "glomerular endothelial tubuloreticular inclusion" ], "alt_id": [], "def": "Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon.", "synonym": [], "xref": [], "is_a": [ "HP:0033272" ], "is_obsolete": "", "replace_id": "" }, "HP:0033276": { "name": [ "obsolete glomerular endocapillary hypercellularity", "obsolete glomerular endocapillary hypercellularity" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0033277": { "name": [ "glomerular fibrinoid necrosis", "glomerular fibrinoid necrosis" ], "alt_id": [], "def": "Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis.", "synonym": [], "xref": [], "is_a": [ "HP:0025006" ], "is_obsolete": "", "replace_id": "" }, "HP:0033278": { "name": [ "reduced cd95 - induced lymphocyte apoptosis", "reduce cd95 - induced lymphocyte apoptosis" ], "alt_id": [], "def": "Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells.", "synonym": [], "xref": [], "is_a": [ "HP:0002731" ], "is_obsolete": "", "replace_id": "" }, "HP:0033279": { "name": [ "enterocutaneous fistula", "enterocutaneous fistula" ], "alt_id": [], "def": "An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin.", "synonym": [], "xref": [], "is_a": [ "HP:0100819" ], "is_obsolete": "", "replace_id": "" }, "HP:0033280": { "name": [ "paratracheal lymphadenopathy", "paratracheal lymphadenopathy" ], "alt_id": [], "def": "Enlargement of lymph nodes surrounding the trachea.", "synonym": [], "xref": [], "is_a": [ "HP:0002716" ], "is_obsolete": "", "replace_id": "" }, "HP:0033281": { "name": [ "circulating nucleated red blood cells", "circulate nucleate red blood cell" ], "alt_id": [], "def": "The presence of nucleated red blood cells in the peripheral blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0001877" ], "is_obsolete": "", "replace_id": "" }, "HP:0033282": { "name": [ "abnormal glomerular basement membrane morphology", "abnormal glomerular basement membrane morphology" ], "alt_id": [], "def": "Any abnormal sttructure of the glomerular basement membrane.", "synonym": [], "xref": [], "is_a": [ "HP:0033603" ], "is_obsolete": "", "replace_id": "" }, "HP:0033283": { "name": [ "segmentally thickened glomerular basement membrane", "segmentally thicken glomerular basement membrane" ], "alt_id": [], "def": "Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.", "synonym": [], "xref": [], "is_a": [ "HP:0033285" ], "is_obsolete": "", "replace_id": "" }, "HP:0033284": { "name": [ "diffusely thickened glomerular basement membrane", "diffusely thicken glomerular basement membrane" ], "alt_id": [], "def": "Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.", "synonym": [], "xref": [], "is_a": [ "HP:0033285" ], "is_obsolete": "", "replace_id": "" }, "HP:0033285": { "name": [ "thickened glomerular basement membranes with no electron dense deposits", "thicken glomerular basement membrane with no electron dense deposit" ], "alt_id": [], "def": "Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy.", "synonym": [], "xref": [], "is_a": [ "HP:0004722" ], "is_obsolete": "", "replace_id": "" }, "HP:0033286": { "name": [ "thickened glomerular basement membranes with electron dense deposits", "thicken glomerular basement membrane with electron dense deposit" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0004722" ], "is_obsolete": "", "replace_id": "" }, "HP:0033287": { "name": [ "glomerular basement membrane lucencies", "glomerular basement membrane lucencies" ], "alt_id": [], "def": "Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits.", "synonym": [], "xref": [], "is_a": [ "HP:0033282" ], "is_obsolete": "", "replace_id": "" }, "HP:0033288": { "name": [ "glomerular basement membrane spikes", "glomerular basement membrane spike" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0033282" ], "is_obsolete": "", "replace_id": "" }, "HP:0033289": { "name": [ "glomerular basement membrane wrinkling", "glomerular basement membrane wrinkle" ], "alt_id": [], "def": "Irregular folding of the glomerular basement membrane with an intact lamina densa.", "synonym": [], "xref": [], "is_a": [ "HP:0033282" ], "is_obsolete": "", "replace_id": "" }, "HP:0033290": { "name": [ "glomerular subendothelial widening", "glomerular subendothelial widening" ], "alt_id": [], "def": "Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material.", "synonym": [], "xref": [], "is_a": [ "HP:0033282" ], "is_obsolete": "", "replace_id": "" }, "HP:0033291": { "name": [ "glomerular karyhorrhectic debris", "glomerular karyhorrhectic debris" ], "alt_id": [], "def": "Apoptotic, pyknotic, and fragmented nuclei within the glomerulus.", "synonym": [], "xref": [], "is_a": [ "HP:0033267" ], "is_obsolete": "", "replace_id": "" }, "HP:0033292": { "name": [ "glomerular fibrin thrombus", "glomerular fibrin thrombus" ], "alt_id": [], "def": "An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen.", "synonym": [], "xref": [], "is_a": [ "HP:0033267" ], "is_obsolete": "", "replace_id": "" }, "HP:0033293": { "name": [ "glomerular hyaline pseudothrombus", "glomerular hyaline pseudothrombus" ], "alt_id": [], "def": "Intracapillary amorphous, eosinophilic material consisting of immune deposits.", "synonym": [], "xref": [], "is_a": [ "HP:0033267" ], "is_obsolete": "", "replace_id": "" }, "HP:0033294": { "name": [ "glomerular lipoprotein thrombus", "glomerular lipoprotein thrombus" ], "alt_id": [], "def": "Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections.", "synonym": [], "xref": [], "is_a": [ "HP:0033267" ], "is_obsolete": "", "replace_id": "" }, "HP:0033295": { "name": [ "mesangial immune complex deposition", "mesangial immune complex deposition" ], "alt_id": [], "def": "Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit.", "synonym": [], "xref": [], "is_a": [ "HP:0001966" ], "is_obsolete": "", "replace_id": "" }, "HP:0033296": { "name": [ "binucleated visceral epithelial cells", "binucleated visceral epithelial cell" ], "alt_id": [], "def": "Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy.", "synonym": [ [ "binucleated podocytes", "binucleated podocytes" ] ], "xref": [], "is_a": [ "HP:0031265" ], "is_obsolete": "", "replace_id": "" }, "HP:0033297": { "name": [ "multinucleated visceral epithelial cells", "multinucleated visceral epithelial cell" ], "alt_id": [], "def": "Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy.", "synonym": [ [ "multinucleated podocytes", "multinucleated podocytes" ], [ "podocyte multinucleation", "podocyte multinucleation" ] ], "xref": [], "is_a": [ "HP:0031265" ], "is_obsolete": "", "replace_id": "" }, "HP:0033298": { "name": [ "abnormal circulating complement factor h related protein 1 concentration", "abnormal circulate complement factor h related protein 1 concentration" ], "alt_id": [], "def": "A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1)", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0033299": { "name": [ "reduced circulating complement factor h related protein 1 concentration", "reduce circulate complement factor h related protein 1 concentration" ], "alt_id": [], "def": "Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033298" ], "is_obsolete": "", "replace_id": "" }, "HP:0033300": { "name": [ "increased circulating complement factor h related protein 1 concentration", "increase circulate complement factor h related protein 1 concentration" ], "alt_id": [], "def": "Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033298" ], "is_obsolete": "", "replace_id": "" }, "HP:0033301": { "name": [ "elevated circulating 1 - methylhistidine concentration", "elevate circulate 1 - methylhistidine concentration" ], "alt_id": [], "def": "An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine.", "synonym": [], "xref": [], "is_a": [ "HP:0033109" ], "is_obsolete": "", "replace_id": "" }, "HP:0033302": { "name": [ "elevated circulating 4 - hydroxyphenylacetic acid concentration", "elevate circulate 4 - hydroxyphenylacetic acid concentration" ], "alt_id": [], "def": "An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010996" ], "is_obsolete": "", "replace_id": "" }, "HP:0033303": { "name": [ "elevated urinary monocarboxylic acid level", "elevate urinary monocarboxylic acid level" ], "alt_id": [], "def": "Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group.", "synonym": [], "xref": [], "is_a": [ "HP:0040156" ], "is_obsolete": "", "replace_id": "" }, "HP:0033304": { "name": [ "elevated urine 4 - hydroxyphenylacetic acid level", "elevate urine 4 - hydroxyphenylacetic acid level" ], "alt_id": [], "def": "Increased amount of 4-hydroxyphenylacetic acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0003607" ], "is_obsolete": "", "replace_id": "" }, "HP:0033305": { "name": [ "abnormal circulating fetuin a concentration", "abnormal circulate fetuin a concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of fetuin A in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0033306": { "name": [ "decreased circulating fetuin a concentration", "decrease circulate fetuin a concentration" ], "alt_id": [], "def": "A reduction below normal of fetuin A in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033305" ], "is_obsolete": "", "replace_id": "" }, "HP:0033307": { "name": [ "increased circulating fetuin a concentration", "increase circulate fetuin a concentration" ], "alt_id": [], "def": "An elevation above normal of fetuin A in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033305" ], "is_obsolete": "", "replace_id": "" }, "HP:0033308": { "name": [ "patellar overgrowth", "patellar overgrowth" ], "alt_id": [], "def": "Excessive growth of the kneecap (patella).", "synonym": [], "xref": [], "is_a": [ "HP:0003045" ], "is_obsolete": "", "replace_id": "" }, "HP:0033309": { "name": [ "ileoileal intussusception", "ileoileal intussusception" ], "alt_id": [], "def": "A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum.", "synonym": [], "xref": [], "is_a": [ "HP:0002576" ], "is_obsolete": "", "replace_id": "" }, "HP:0033310": { "name": [ "osmotic diarrhea", "osmotic diarrhea" ], "alt_id": [], "def": "Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption.", "synonym": [], "xref": [], "is_a": [ "HP:0002014" ], "is_obsolete": "", "replace_id": "" }, "HP:0033311": { "name": [ "abdominal aortic dissection", "abdominal aortic dissection" ], "alt_id": [], "def": "A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers.", "synonym": [], "xref": [], "is_a": [ "HP:0002647" ], "is_obsolete": "", "replace_id": "" }, "HP:0033312": { "name": [ "abnormal bowman space morphology", "abnormal bowman space morphology" ], "alt_id": [], "def": "Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron.", "synonym": [], "xref": [], "is_a": [ "HP:0031264" ], "is_obsolete": "", "replace_id": "" }, "HP:0033313": { "name": [ "urinary space collagenization", "urinary space collagenization" ], "alt_id": [], "def": "Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft.", "synonym": [ [ "collagenization of the urinary space", "collagenization of the urinary space" ] ], "xref": [], "is_a": [ "HP:0033312" ], "is_obsolete": "", "replace_id": "" }, "HP:0033314": { "name": [ "visceral epithelial cell hyperplasia", "visceral epithelial cell hyperplasia" ], "alt_id": [], "def": "Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium.", "synonym": [ [ "hyperplasia of visceral epithelial cells", "hyperplasia of visceral epithelial cell" ], [ "podocyte hyperplasia", "podocyte hyperplasia" ] ], "xref": [], "is_a": [ "HP:0031265" ], "is_obsolete": "", "replace_id": "" }, "HP:0033315": { "name": [ "visceral epithelial hyaline droplets", "visceral epithelial hyaline droplet" ], "alt_id": [], "def": "Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells.", "synonym": [], "xref": [], "is_a": [ "HP:0031265" ], "is_obsolete": "", "replace_id": "" }, "HP:0033316": { "name": [ "glomerular crescent formation", "glomerular crescent formation" ], "alt_id": [], "def": "Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin.", "synonym": [], "xref": [], "is_a": [ "HP:0033312" ], "is_obsolete": "", "replace_id": "" }, "HP:0033317": { "name": [ "cellular crescent", "cellular crescent" ], "alt_id": [], "def": "A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix.", "synonym": [], "xref": [], "is_a": [ "HP:0033316" ], "is_obsolete": "", "replace_id": "" }, "HP:0033318": { "name": [ "fibrocellular crescent", "fibrocellular crescent" ], "alt_id": [], "def": "A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix.", "synonym": [], "xref": [], "is_a": [ "HP:0033316" ], "is_obsolete": "", "replace_id": "" }, "HP:0033319": { "name": [ "fibrous crescent", "fibrous crescent" ], "alt_id": [], "def": "A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference.", "synonym": [], "xref": [], "is_a": [ "HP:0033316" ], "is_obsolete": "", "replace_id": "" }, "HP:0033320": { "name": [ "mesangial cell loss", "mesangial cell loss" ], "alt_id": [], "def": "Loss of mesangial cells segmentally or globally.", "synonym": [], "xref": [], "is_a": [ "HP:0033231" ], "is_obsolete": "", "replace_id": "" }, "HP:0033321": { "name": [ "glomerular obsolescence", "glomerular obsolescence" ], "alt_id": [], "def": "Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium.", "synonym": [], "xref": [], "is_a": [ "HP:0004737" ], "is_obsolete": "", "replace_id": "" }, "HP:0033322": { "name": [ "glomerular capillary wall duplication without cellular interposition", "glomerular capillary wall duplication without cellular interposition" ], "alt_id": [], "def": "Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.", "synonym": [], "xref": [], "is_a": [ "HP:0025006" ], "is_obsolete": "", "replace_id": "" }, "HP:0033323": { "name": [ "glomerular capillary wall duplication with cellular interposition", "glomerular capillary wall duplication with cellular interposition" ], "alt_id": [], "def": "Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.", "synonym": [], "xref": [], "is_a": [ "HP:0025006" ], "is_obsolete": "", "replace_id": "" }, "HP:0033324": { "name": [ "elevated circulating homovanillic acid concentration", "elevate circulate homovanillic acid concentration" ], "alt_id": [], "def": "Increased concentration of homovanillic acid in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010996" ], "is_obsolete": "", "replace_id": "" }, "HP:0033325": { "name": [ "elevated circulating sebacic acid concentration", "elevate circulate sebacic acid concentration" ], "alt_id": [], "def": "Increased concentration of sebacic acid in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010995" ], "is_obsolete": "", "replace_id": "" }, "HP:0033326": { "name": [ "elevated circulating hydroxyphenlyllactic acid concentration", "elevate circulate hydroxyphenlyllactic acid concentration" ], "alt_id": [], "def": "An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0004354" ], "is_obsolete": "", "replace_id": "" }, "HP:0033327": { "name": [ "nail psoriasis", "nail psoriasis" ], "alt_id": [], "def": "Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed.", "synonym": [], "xref": [], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0033328": { "name": [ "type ii pneumocyte hyperplasia", "type ii pneumocyte hyperplasia" ], "alt_id": [], "def": "Enlargement of type II pneumocytes characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin.", "synonym": [], "xref": [], "is_a": [ "HP:0033245" ], "is_obsolete": "", "replace_id": "" }, "HP:0033329": { "name": [ "abnormal postural reflex", "abnormal postural reflex" ], "alt_id": [], "def": "Anomaly of the physiological response to maintain the body's posture when movement and position is altered.", "synonym": [ [ "abnormal postural reaction", "abnormal postural reaction" ] ], "xref": [], "is_a": [ "HP:0031826" ], "is_obsolete": "", "replace_id": "" }, "HP:0033330": { "name": [ "impaired neck - righting reflex", "impaired neck - righting reflex" ], "alt_id": [], "def": "Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years.", "synonym": [], "xref": [], "is_a": [ "HP:0033329" ], "is_obsolete": "", "replace_id": "" }, "HP:0033331": { "name": [ "acute phase response", "acute phase response" ], "alt_id": [], "def": "Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing.", "synonym": [], "xref": [], "is_a": [ "HP:0001939" ], "is_obsolete": "", "replace_id": "" }, "HP:0033332": { "name": [ "elevated circulating amyloid a", "elevate circulate amyloid a" ], "alt_id": [], "def": "An increased concentration of serum amyloid A in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010876", "HP:0033331" ], "is_obsolete": "", "replace_id": "" }, "HP:0033333": { "name": [ "jaw contracture", "jaw contracture" ], "alt_id": [], "def": "Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement.", "synonym": [], "xref": [], "is_a": [ "HP:0001371", "HP:0030791" ], "is_obsolete": "", "replace_id": "" }, "HP:0033334": { "name": [ "abnormal embryonic development", "abnormal embryonic development" ], "alt_id": [], "def": "An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm.", "synonym": [], "xref": [], "is_a": [ "HP:0001197" ], "is_obsolete": "", "replace_id": "" }, "HP:0033335": { "name": [ "abnormal preimplantation embryonic development", "abnormal preimplantation embryonic development" ], "alt_id": [], "def": "An anomaly in the development of the embryo in a stage prior to implantation.", "synonym": [], "xref": [], "is_a": [ "HP:0033334" ], "is_obsolete": "", "replace_id": "" }, "HP:0033336": { "name": [ "zygotic cleavage failure", "zygotic cleavage failure" ], "alt_id": [], "def": "Failure of a fertilized oocyte to undergo the first round of cell division.", "synonym": [ [ "failure of zygotic cell division", "failure of zygotic cell division" ] ], "xref": [], "is_a": [ "HP:0033335" ], "is_obsolete": "", "replace_id": "" }, "HP:0033337": { "name": [ "abnormal gametogenesis", "abnormal gametogenesis" ], "alt_id": [], "def": "An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II.", "synonym": [], "xref": [], "is_a": [ "HP:0000080" ], "is_obsolete": "", "replace_id": "" }, "HP:0033338": { "name": [ "abnormal female meiosis", "abnormal female meiosis" ], "alt_id": [], "def": "Anomalous oocyte meiosis", "synonym": [], "xref": [], "is_a": [ "HP:0031515" ], "is_obsolete": "", "replace_id": "" }, "HP:0033339": { "name": [ "increased circulating inosine concentration", "increase circulate inosine concentration" ], "alt_id": [], "def": "An increased concentration of inosine in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0004368" ], "is_obsolete": "", "replace_id": "" }, "HP:0033340": { "name": [ "increased circulating guanosine concentration", "increase circulate guanosine concentration" ], "alt_id": [], "def": "Increased concentration of guanosine in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0004368" ], "is_obsolete": "", "replace_id": "" }, "HP:0033341": { "name": [ "elevated circulating sitosterol concentration", "elevate circulate sitosterol concentration" ], "alt_id": [], "def": "An increased concentration of beta-sitosterol in the blood circulation.", "synonym": [ [ "elevated circulating beta - sitosterol concentration", "elevate circulate beta - sitosterol concentration" ] ], "xref": [], "is_a": [ "HP:0003119" ], "is_obsolete": "", "replace_id": "" }, "HP:0033342": { "name": [ "anti - aquaporin 4 antibody positivity", "anti - aquaporin 4 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4.", "synonym": [ [ "anti - aqp4 antibody positivity", "anti - aqp4 antibody positivity" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0033343": { "name": [ "mucoid diarrhea", "mucoid diarrhea" ], "alt_id": [], "def": "Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes.", "synonym": [ [ "mucous diarrhea", "mucous diarrhea" ], [ "mucous diarrhoea", "mucous diarrhoea" ] ], "xref": [], "is_a": [ "HP:0002014" ], "is_obsolete": "", "replace_id": "" }, "HP:0033344": { "name": [ "pleural cobblestoning", "pleural cobblestoning" ], "alt_id": [], "def": "A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura.", "synonym": [], "xref": [], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0033345": { "name": [ "neuralgia", "neuralgia" ], "alt_id": [], "def": "Pain (An unpleasant sensory and emotional experience) along the course of a nerve.", "synonym": [], "xref": [], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0033346": { "name": [ "psychic epileptic aura", "psychic epileptic aura" ], "alt_id": [], "def": "Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.", "synonym": [ [ "psychic aura", "psychic aura" ] ], "xref": [], "is_a": [ "HP:0033348" ], "is_obsolete": "", "replace_id": "" }, "HP:0033347": { "name": [ "cognitive epileptic aura", "cognitive epileptic aura" ], "alt_id": [], "def": "A purely subjective manifestation of an epileptic seizure pertaining to altered cognition.", "synonym": [], "xref": [], "is_a": [ "HP:0033346" ], "is_obsolete": "", "replace_id": "" }, "HP:0033348": { "name": [ "epileptic aura", "epileptic aura" ], "alt_id": [], "def": "An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure.", "synonym": [], "xref": [], "is_a": [ "HP:0032679" ], "is_obsolete": "", "replace_id": "" }, "HP:0033349": { "name": [ "seizure cluster", "seizure cluster" ], "alt_id": [], "def": "A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient.", "synonym": [ [ "acute repetitive seizures", "acute repetitive seizure" ], [ "crescendo seizures", "crescendo seizure" ], [ "cyclical seizures", "cyclical seizure" ], [ "recurrent seizures", "recurrent seizure" ], [ "seizure flurries", "seizure flurry" ], [ "serial seizures", "serial seizure" ] ], "xref": [], "is_a": [ "HP:0031796" ], "is_obsolete": "", "replace_id": "" }, "HP:0033350": { "name": [ "elevated forced expiratory volume in one second", "elevate forced expiratory volume in one second" ], "alt_id": [], "def": "An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject.", "synonym": [ [ "elevated fev1", "elevate fev1" ] ], "xref": [], "is_a": [ "HP:0030878" ], "is_obsolete": "", "replace_id": "" }, "HP:0033351": { "name": [ "candida esophagitis", "candida esophagitis" ], "alt_id": [], "def": "Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain.", "synonym": [ [ "esophageal candidiasis", "esophageal candidiasis" ] ], "xref": [], "is_a": [ "HP:0032255" ], "is_obsolete": "", "replace_id": "" }, "HP:0033352": { "name": [ "pulmonary hypertensive crisis", "pulmonary hypertensive crisis" ], "alt_id": [], "def": "Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output.", "synonym": [ [ "pulmonary arterial hypertension crisis", "pulmonary arterial hypertension crisis" ] ], "xref": [], "is_a": [ "HP:0004890" ], "is_obsolete": "", "replace_id": "" }, "HP:0033353": { "name": [ "abnormal blood vessel morphology", "abnormal blood vessel morphology" ], "alt_id": [], "def": "Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).", "synonym": [], "xref": [], "is_a": [ "HP:0025015" ], "is_obsolete": "", "replace_id": "" }, "HP:0033354": { "name": [ "abnormal urine metabolite level", "abnormal urine metabolite level" ], "alt_id": [], "def": "Any deviation from the normal amount of a metabolite in urine.", "synonym": [], "xref": [], "is_a": [ "HP:0003110" ], "is_obsolete": "", "replace_id": "" }, "HP:0033355": { "name": [ "increased urine deoxypyridinoline level", "increase urine deoxypyridinoline level" ], "alt_id": [], "def": "An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover.", "synonym": [ [ "elevated urinary dpd", "elevate urinary dpd" ] ], "xref": [], "is_a": [ "HP:0033384" ], "is_obsolete": "", "replace_id": "" }, "HP:0033356": { "name": [ "elevated circulating o - phosphoserine concentration", "elevate circulate o - phosphoserine concentration" ], "alt_id": [], "def": "An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine.", "synonym": [], "xref": [], "is_a": [ "HP:0033109" ], "is_obsolete": "", "replace_id": "" }, "HP:0033357": { "name": [ "limited head rotation", "limited head rotation" ], "alt_id": [], "def": "Reduced range of motion turning the head side to side.", "synonym": [], "xref": [], "is_a": [ "HP:0005986" ], "is_obsolete": "", "replace_id": "" }, "HP:0033358": { "name": [ "abnormal urine osmolality", "abnormal urine osmolality" ], "alt_id": [], "def": "A deviation from the normal range of concentration of particles in urine.", "synonym": [], "xref": [], "is_a": [ "HP:0003110" ], "is_obsolete": "", "replace_id": "" }, "HP:0033359": { "name": [ "hyperosthenuria", "hyperosthenuria" ], "alt_id": [], "def": "An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033358" ], "is_obsolete": "", "replace_id": "" }, "HP:0033360": { "name": [ "impaired ability to shift attention", "impaired ability to shift attention" ], "alt_id": [], "def": "A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible.", "synonym": [ [ "impaired task shifting", "impaired task shift" ] ], "xref": [], "is_a": [ "HP:0033051" ], "is_obsolete": "", "replace_id": "" }, "HP:0033361": { "name": [ "nasal ulcer", "nasal ulcer" ], "alt_id": [], "def": "An open sore of the nasal mucosa.", "synonym": [], "xref": [], "is_a": [ "HP:0000433" ], "is_obsolete": "", "replace_id": "" }, "HP:0033362": { "name": [ "recurrent coughing spasms", "recurrent cough spasm" ], "alt_id": [], "def": "Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing.", "synonym": [], "xref": [], "is_a": [ "HP:0012735" ], "is_obsolete": "", "replace_id": "" }, "HP:0033363": { "name": [ "hyaline membranes", "hyaline membrane" ], "alt_id": [], "def": "Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant\\nplastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult.", "synonym": [], "xref": [], "is_a": [ "HP:0033137" ], "is_obsolete": "", "replace_id": "" }, "HP:0033364": { "name": [ "lipoid pneumonia", "lipoid pneumonia" ], "alt_id": [], "def": "A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid.", "synonym": [], "xref": [], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0033365": { "name": [ "endogenous lipoid pneumonia", "endogenous lipoid pneumonia" ], "alt_id": [], "def": "A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace.", "synonym": [], "xref": [], "is_a": [ "HP:0033364" ], "is_obsolete": "", "replace_id": "" }, "HP:0033366": { "name": [ "exogenous lipoid pneumonia", "exogenous lipoid pneumonia" ], "alt_id": [], "def": "A type of lipoid pneumonia in which the source of the lipids is external to the body.", "synonym": [], "xref": [], "is_a": [ "HP:0033364" ], "is_obsolete": "", "replace_id": "" }, "HP:0033367": { "name": [ "orthodeoxia", "orthodeoxia" ], "alt_id": [], "def": "Low level of blood oxygen induced by changing from a recumbent to an upright position.", "synonym": [], "xref": [], "is_a": [ "HP:0012418" ], "is_obsolete": "", "replace_id": "" }, "HP:0033368": { "name": [ "platypnea", "platypnea" ], "alt_id": [], "def": "A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position.", "synonym": [], "xref": [], "is_a": [ "HP:0002094" ], "is_obsolete": "", "replace_id": "" }, "HP:0033369": { "name": [ "cavitating leukodystrophy", "cavitating leukodystrophy" ], "alt_id": [], "def": "A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity.", "synonym": [], "xref": [], "is_a": [ "HP:0002415" ], "is_obsolete": "", "replace_id": "" }, "HP:0033370": { "name": [ "bronchial telangiectasia", "bronchial telangiectasia" ], "alt_id": [], "def": "Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system.", "synonym": [ [ "endobronchial telangiectasia", "endobronchial telangiectasia" ] ], "xref": [], "is_a": [ "HP:0004930", "HP:0100579" ], "is_obsolete": "", "replace_id": "" }, "HP:0033371": { "name": [ "bronchocentric granulomatosis", "bronchocentric granulomatosis" ], "alt_id": [], "def": "Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen.", "synonym": [], "xref": [], "is_a": [ "HP:0030250" ], "is_obsolete": "", "replace_id": "" }, "HP:0033372": { "name": [ "abnormal kco", "abnormal kco" ], "alt_id": [], "def": "Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O.", "synonym": [], "xref": [], "is_a": [ "HP:0030878" ], "is_obsolete": "", "replace_id": "" }, "HP:0033373": { "name": [ "increased kco", "increase kco" ], "alt_id": [], "def": "Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).", "synonym": [], "xref": [], "is_a": [ "HP:0033372" ], "is_obsolete": "", "replace_id": "" }, "HP:0033374": { "name": [ "decreased kco", "decrease kco" ], "alt_id": [], "def": "Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).", "synonym": [], "xref": [], "is_a": [ "HP:0033372" ], "is_obsolete": "", "replace_id": "" }, "HP:0033375": { "name": [ "anthracosis", "anthracosis" ], "alt_id": [], "def": "Anthracosis is the deposition of black carbon pigment. It is commonly seen in perihilar lymph nodes as well as within lung parenchyma. There can be prominent storiforming (i.e., spiral patterning) of histiocytes, to such an extent as to mimic a neoplastic lesion histologically. Anthracosis is a common finding in smokers and polluted city dwellers.", "synonym": [], "xref": [], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0033376": { "name": [ "alveolar septal thickening", "alveolar septal thickening" ], "alt_id": [], "def": "Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology.", "synonym": [], "xref": [], "is_a": [ "HP:0033137" ], "is_obsolete": "", "replace_id": "" }, "HP:0033377": { "name": [ "increased airway neuroendocrine cells", "increase airway neuroendocrine cell" ], "alt_id": [], "def": "Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependend on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clicnial settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs).", "synonym": [], "xref": [], "is_a": [ "HP:0025426" ], "is_obsolete": "", "replace_id": "" }, "HP:0033378": { "name": [ "increased airway neuroepithelial bodies", "increase airway neuroepithelial body" ], "alt_id": [], "def": "Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts.", "synonym": [], "xref": [], "is_a": [ "HP:0025426" ], "is_obsolete": "", "replace_id": "" }, "HP:0033379": { "name": [ "bilateral superior vena cava", "bilateral superior vena cava" ], "alt_id": [], "def": "The presence of a left and a right superior vena cava.", "synonym": [ [ "bilateral svc", "bilateral svc" ] ], "xref": [], "is_a": [ "HP:0005301" ], "is_obsolete": "", "replace_id": "" }, "HP:0033380": { "name": [ "nasal chondritis", "nasal chondritis" ], "alt_id": [], "def": "Inflammation of the cartilage of the nose.", "synonym": [ [ "nose chondritis", "nose chondritis" ] ], "xref": [], "is_a": [ "HP:0100662", "HP:3000034" ], "is_obsolete": "", "replace_id": "" }, "HP:0033381": { "name": [ "elevated circulating stearoylcarnitine concentration", "elevate circulate stearoylcarnitine concentration" ], "alt_id": [], "def": "Abnormally increased concentration of O-stearoylcarnitine in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0012071" ], "is_obsolete": "", "replace_id": "" }, "HP:0033382": { "name": [ "elevated circulating palmitoylcarnitine concentration", "elevate circulate palmitoylcarnitine concentration" ], "alt_id": [], "def": "Abnormally increased concentration of palmitoylcarnitine in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0012071" ], "is_obsolete": "", "replace_id": "" }, "HP:0033383": { "name": [ "decreased compound muscle action potential amplitude", "decrease compound muscle action potential amplitude" ], "alt_id": [], "def": "Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve.", "synonym": [ [ "decreased cmap amplitude", "decrease cmap amplitude" ] ], "xref": [], "is_a": [ "HP:0030179" ], "is_obsolete": "", "replace_id": "" }, "HP:0033384": { "name": [ "elevated urinary collagen degradation products", "elevate urinary collagen degradation product" ], "alt_id": [], "def": "Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.", "synonym": [], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0033385": { "name": [ "elevated urine pyridinoline level", "elevate urine pyridinoline level" ], "alt_id": [], "def": "An increased amount of pyridinoline in the urine.", "synonym": [ [ "elevated urine hydroxylysyl - pyridinoline level", "elevate urine hydroxylysyl - pyridinoline level" ] ], "xref": [], "is_a": [ "HP:0033384" ], "is_obsolete": "", "replace_id": "" }, "HP:0033386": { "name": [ "abnormal circulating collagen degradation product concentration", "abnormal circulate collagen degradation product concentration" ], "alt_id": [], "def": "Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.", "synonym": [], "xref": [], "is_a": [ "HP:0032180" ], "is_obsolete": "", "replace_id": "" }, "HP:0033387": { "name": [ "elevated circulating pyridinoline concentration", "elevate circulate pyridinoline concentration" ], "alt_id": [], "def": "An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033386" ], "is_obsolete": "", "replace_id": "" }, "HP:0033388": { "name": [ "abnormal bronchial artery morphology", "abnormal bronchial artery morphology" ], "alt_id": [], "def": "Any structural abnormality of a bronchial artery.", "synonym": [], "xref": [], "is_a": [ "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:0033389": { "name": [ "bronchopulmonary anastomosis", "bronchopulmonary anastomosis" ], "alt_id": [], "def": "Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries.", "synonym": [], "xref": [], "is_a": [ "HP:0030966", "HP:0033388" ], "is_obsolete": "", "replace_id": "" }, "HP:0033390": { "name": [ "bronchial artery dilatation", "bronchial artery dilatation" ], "alt_id": [], "def": "Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm.", "synonym": [ [ "bronchial artery enlargement", "bronchial artery enlargement" ], [ "dilatation of a bronchial artery", "dilatation of a bronchial artery" ] ], "xref": [], "is_a": [ "HP:0033388" ], "is_obsolete": "", "replace_id": "" }, "HP:0033391": { "name": [ "bronchial artery hypertrophy", "bronchial artery hypertrophy" ], "alt_id": [], "def": "Increase in the volume of bronchial artery wall due to the enlargement of its component cells.", "synonym": [], "xref": [], "is_a": [ "HP:0033388" ], "is_obsolete": "", "replace_id": "" }, "HP:0033392": { "name": [ "perivascular pre - capillary pulmonary artery inflammation", "perivascular pre - capillary pulmonary artery inflammation" ], "alt_id": [], "def": "Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer).", "synonym": [ [ "perivascular inflammation of arterioles in the pulmonary circulation", "perivascular inflammation of arteriole in the pulmonary circulation" ], [ "perivascular inflammation of pre - capillary pulmonary arteries", "perivascular inflammation of pre - capillary pulmonary artery" ] ], "xref": [], "is_a": [ "HP:0030966" ], "is_obsolete": "", "replace_id": "" }, "HP:0033393": { "name": [ "irregularly shaped sperm tail", "irregularly shaped sperm tail" ], "alt_id": [], "def": "Irregular or changing caliber (diameter) along the tail of the sperm.", "synonym": [ [ "sperm flagella with irregular caliber", "sperm flagellum with irregular caliber" ], [ "sperm flagella with irregular calibre", "sperm flagellum with irregular calibre" ] ], "xref": [], "is_a": [ "HP:0012868" ], "is_obsolete": "", "replace_id": "" }, "HP:0033394": { "name": [ "anti - carbonic anhydrase ii antibody positivity", "anti - carbonic anhydrase ii antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0033395": { "name": [ "antilactoferrin antibody positivity", "antilactoferrin antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0033396": { "name": [ "glomerular extracapillary fibrin", "glomerular extracapillary fibrin" ], "alt_id": [], "def": "Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina.", "synonym": [], "xref": [], "is_a": [ "HP:0033312" ], "is_obsolete": "", "replace_id": "" }, "HP:0033397": { "name": [ "bowman - space proteinaceous debris", "bowman - space proteinaceous debris" ], "alt_id": [], "def": "The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space.", "synonym": [], "xref": [], "is_a": [ "HP:0033312" ], "is_obsolete": "", "replace_id": "" }, "HP:0033398": { "name": [ "pleural plaque", "pleural plaque" ], "alt_id": [], "def": "Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs).", "synonym": [], "xref": [], "is_a": [ "HP:0002103" ], "is_obsolete": "", "replace_id": "" }, "HP:0033399": { "name": [ "persistent fever", "persistent fever" ], "alt_id": [], "def": "Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks.", "synonym": [], "xref": [], "is_a": [ "HP:0001945" ], "is_obsolete": "", "replace_id": "" }, "HP:0033400": { "name": [ "acute abdomen", "acute abdomen" ], "alt_id": [], "def": "A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction.", "synonym": [ [ "acute abdominal pain", "acute abdominal pain" ] ], "xref": [], "is_a": [ "HP:0002027" ], "is_obsolete": "", "replace_id": "" }, "HP:0033401": { "name": [ "tissue ischemia", "tissue ischemia" ], "alt_id": [], "def": "Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion.", "synonym": [], "xref": [], "is_a": [ "HP:0025323" ], "is_obsolete": "", "replace_id": "" }, "HP:0033402": { "name": [ "digital ischemia", "digital ischemia" ], "alt_id": [], "def": "Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis.", "synonym": [], "xref": [], "is_a": [ "HP:0033401" ], "is_obsolete": "", "replace_id": "" }, "HP:0033403": { "name": [ "testicular ischemia", "testicular ischemia" ], "alt_id": [], "def": "Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain and swelling of the affected testis.", "synonym": [], "xref": [], "is_a": [ "HP:0033401" ], "is_obsolete": "", "replace_id": "" }, "HP:0033404": { "name": [ "intestinal ischemia", "intestinal ischemia" ], "alt_id": [], "def": "Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the digit. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain.", "synonym": [], "xref": [], "is_a": [ "HP:0033401" ], "is_obsolete": "", "replace_id": "" }, "HP:0033405": { "name": [ "abnormal circulating organic amino compound concentration", "abnormal circulate organic amino compound concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups.", "synonym": [], "xref": [], "is_a": [ "HP:0032180" ], "is_obsolete": "", "replace_id": "" }, "HP:0033406": { "name": [ "elevated circulating o - phosphoethanolamine concentration", "elevate circulate o - phosphoethanolamine concentration" ], "alt_id": [], "def": "An increased concentration of o-phosphoethanolamine in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033405" ], "is_obsolete": "", "replace_id": "" }, "HP:0033407": { "name": [ "elevated urine acetoacetic acid level", "elevate urine acetoacetic acid level" ], "alt_id": [], "def": "Elevated amount of acetoacetic acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0002919" ], "is_obsolete": "", "replace_id": "" }, "HP:0033408": { "name": [ "elevated circulating acetoacetic acid concentration", "elevate circulate acetoacetic acid concentration" ], "alt_id": [], "def": "An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies.", "synonym": [], "xref": [], "is_a": [ "HP:0410175" ], "is_obsolete": "", "replace_id": "" }, "HP:0033409": { "name": [ "elevated urinary 2 - hydroxybutyric acid", "elevate urinary 2 - hydroxybutyric acid" ], "alt_id": [], "def": "An increased amount of 2-hydroxybutyric acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033303" ], "is_obsolete": "", "replace_id": "" }, "HP:0033410": { "name": [ "elevated circulating cartilage oligomeric matrix protein concentration", "elevate circulating cartilage oligomeric matrix protein concentration" ], "alt_id": [], "def": "An increased blood concentration of cartilage oligomeric matrix protein (COMP).", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0033411": { "name": [ "lower extremity akinesia", "low extremity akinesia" ], "alt_id": [], "def": "Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities.", "synonym": [], "xref": [], "is_a": [ "HP:0002304" ], "is_obsolete": "", "replace_id": "" }, "HP:0033412": { "name": [ "upper extremity akinesia", "upper extremity akinesia" ], "alt_id": [], "def": "Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities.", "synonym": [ [ "akinesia of the upper extremities", "akinesia of the upper extremity" ] ], "xref": [], "is_a": [ "HP:0002304" ], "is_obsolete": "", "replace_id": "" }, "HP:0033413": { "name": [ "upper extremity hypokinesia", "upper extremity hypokinesia" ], "alt_id": [], "def": "Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.", "synonym": [ [ "hypokinesia of the upper extremities", "hypokinesia of the upper extremity" ] ], "xref": [], "is_a": [ "HP:0002375" ], "is_obsolete": "", "replace_id": "" }, "HP:0033414": { "name": [ "lower extremity hypokinesia", "low extremity hypokinesia" ], "alt_id": [], "def": "Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.", "synonym": [ [ "hypokinesia of the lower extremities", "hypokinesia of the low extremity" ] ], "xref": [], "is_a": [ "HP:0002375" ], "is_obsolete": "", "replace_id": "" }, "HP:0033415": { "name": [ "cardiac tamponade", "cardiac tamponade" ], "alt_id": [], "def": "The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling.", "synonym": [], "xref": [], "is_a": [ "HP:0011025" ], "is_obsolete": "", "replace_id": "" }, "HP:0033416": { "name": [ "hip adductor weakness", "hip adductor weakness" ], "alt_id": [], "def": "Reduced ability to bring the leg toward the midline of the body.", "synonym": [], "xref": [], "is_a": [ "HP:0003749" ], "is_obsolete": "", "replace_id": "" }, "HP:0033417": { "name": [ "elevated circulating hydroxybutyric acid concentration", "elevate circulate hydroxybutyric acid concentration" ], "alt_id": [], "def": "An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent.", "synonym": [], "xref": [], "is_a": [ "HP:0010996" ], "is_obsolete": "", "replace_id": "" }, "HP:0033418": { "name": [ "elevated circulating 2 - hydroxybutyric acid concentration", "elevate circulate 2 - hydroxybutyric acid concentration" ], "alt_id": [], "def": "Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range.", "synonym": [], "xref": [], "is_a": [ "HP:0033417" ], "is_obsolete": "", "replace_id": "" }, "HP:0033419": { "name": [ "elevated circulating 3 - hydroxybutyric acid concentration", "elevate circulate 3 - hydroxybutyric acid concentration" ], "alt_id": [], "def": "Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range.", "synonym": [], "xref": [], "is_a": [ "HP:0033417" ], "is_obsolete": "", "replace_id": "" }, "HP:0033420": { "name": [ "pulmonary arterial plexiform lesion", "pulmonary arterial plexiform lesion" ], "alt_id": [], "def": "Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels.", "synonym": [], "xref": [], "is_a": [ "HP:0030966" ], "is_obsolete": "", "replace_id": "" }, "HP:0033421": { "name": [ "pulmonary artery intimal thickening", "pulmonary artery intimal thicken" ], "alt_id": [], "def": "Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%.", "synonym": [], "xref": [], "is_a": [ "HP:0030966" ], "is_obsolete": "", "replace_id": "" }, "HP:0033422": { "name": [ "pulmonary artery adventitial fibrosis", "pulmonary artery adventitial fibrosis" ], "alt_id": [], "def": "Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree.", "synonym": [], "xref": [], "is_a": [ "HP:0030966" ], "is_obsolete": "", "replace_id": "" }, "HP:0033423": { "name": [ "pulmonary arterial hypertension with positive acute response to no challenge", "pulmonary arterial hypertension with positive acute response to no challenge" ], "alt_id": [], "def": "A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm.", "synonym": [], "xref": [], "is_a": [ "HP:0002092" ], "is_obsolete": "", "replace_id": "" }, "HP:0033424": { "name": [ "pulmonary arterial hypertension with lack of acute response to no challenge", "pulmonary arterial hypertension with lack of acute response to no challenge" ], "alt_id": [], "def": "A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm).", "synonym": [], "xref": [], "is_a": [ "HP:0002092" ], "is_obsolete": "", "replace_id": "" }, "HP:0033425": { "name": [ "periungual erythema", "periungual erythema" ], "alt_id": [], "def": "Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail.", "synonym": [], "xref": [], "is_a": [ "HP:0100803" ], "is_obsolete": "", "replace_id": "" }, "HP:0033426": { "name": [ "pulmonary air embolism", "pulmonary air embolism" ], "alt_id": [], "def": "Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation.", "synonym": [ [ "venous air embolism", "venous air embolism" ] ], "xref": [], "is_a": [ "HP:0002204" ], "is_obsolete": "", "replace_id": "" }, "HP:0033427": { "name": [ "pulmonary capillary angioectasia", "pulmonary capillary angioectasia" ], "alt_id": [], "def": "Focal accumulation of dilated pulmonary capillaries.", "synonym": [], "xref": [], "is_a": [ "HP:0004930" ], "is_obsolete": "", "replace_id": "" }, "HP:0033428": { "name": [ "systemic autoinflammation", "systemic autoinflammation" ], "alt_id": [], "def": "Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body.", "synonym": [], "xref": [], "is_a": [ "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0033429": { "name": [ "neuroinflammation", "neuroinflammation" ], "alt_id": [], "def": "Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain.", "synonym": [], "xref": [], "is_a": [ "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0033430": { "name": [ "non - infectious meningitis", "non - infectious meningitis" ], "alt_id": [], "def": "Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines.", "synonym": [], "xref": [], "is_a": [ "HP:0033429" ], "is_obsolete": "", "replace_id": "" }, "HP:0033431": { "name": [ "cytomegalovirus colitis", "cytomegalovirus colitis" ], "alt_id": [], "def": "A form of cytomegalovirus infection characterized by infection and inflammation of the colon.", "synonym": [ [ "cmv colitis", "cmv colitis" ] ], "xref": [], "is_a": [ "HP:0031692", "HP:0033432" ], "is_obsolete": "", "replace_id": "" }, "HP:0033432": { "name": [ "opportunistic viral infection", "opportunistic viral infection" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0031690" ], "is_obsolete": "", "replace_id": "" }, "HP:0033433": { "name": [ "ileocecal ulcer", "ileocecal ulcer" ], "alt_id": [], "def": "An erosion of the mucous membrane in the region connecting the ileum and cecum.", "synonym": [ [ "ileo - cecal ulcer", "ileo - cecal ulcer" ] ], "xref": [], "is_a": [ "HP:0001549" ], "is_obsolete": "", "replace_id": "" }, "HP:0033434": { "name": [ "nasal septum perforation", "nasal septum perforation" ], "alt_id": [], "def": "A full-thickness defect of the nasal septum.", "synonym": [ [ "nasal - septum perforation", "nasal - septum perforation" ], [ "perforation of the nasal septum", "perforation of the nasal septum" ] ], "xref": [], "is_a": [ "HP:0000419" ], "is_obsolete": "", "replace_id": "" }, "HP:0033435": { "name": [ "abnormal circulating keto acid concentration", "abnormal circulate keto acid concentration" ], "alt_id": [], "def": "A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group.", "synonym": [], "xref": [], "is_a": [ "HP:0010996" ], "is_obsolete": "", "replace_id": "" }, "HP:0033436": { "name": [ "elevated circulating 3 - methyl - 2 - oxovaleric acid concentration", "elevate circulate 3 - methyl - 2 - oxovaleric acid concentration" ], "alt_id": [], "def": "An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033435" ], "is_obsolete": "", "replace_id": "" }, "HP:0033437": { "name": [ "elevated circulating 4 - methyl - 2 - oxopentanoic acid concentration", "elevate circulate 4 - methyl - 2 - oxopentanoic acid concentration" ], "alt_id": [], "def": "Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation.", "synonym": [ [ "increased circulating alpha - ketoisocaproic acid concentration", "increase circulate alpha - ketoisocaproic acid concentration" ] ], "xref": [], "is_a": [ "HP:0033435" ], "is_obsolete": "", "replace_id": "" }, "HP:0033438": { "name": [ "elevated circulating myoglobin concentration", "elevate circulate myoglobin concentration" ], "alt_id": [], "def": "An increased blood concentration of myoglobin.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0033439": { "name": [ "elevated circulating decenoylcarnitine concentration", "elevate circulate decenoylcarnitine concentration" ], "alt_id": [], "def": "Increased concentration of decenoylcarnitine in the blood circulation.", "synonym": [ [ "elevated circulating o - decenoylcarnitine concentration", "elevate circulate o - decenoylcarnitine concentration" ], [ "elevated plasma decenoylcarnitine , c10:1", "elevate plasma decenoylcarnitine , c10:1" ] ], "xref": [], "is_a": [ "HP:0045045" ], "is_obsolete": "", "replace_id": "" }, "HP:0033440": { "name": [ "elevated circulating octenoylcarnitine concentration", "elevate circulate octenoylcarnitine concentration" ], "alt_id": [], "def": "Increased concentration of octenoylcarnitine in the blood circulation.", "synonym": [ [ "elevated circulating o - octenoylcarnitine concentration", "elevate circulate o - octenoylcarnitine concentration" ], [ "elevated plasma octenoylcarnitine , c8:1", "elevate plasma octenoylcarnitine , c8:1" ] ], "xref": [], "is_a": [ "HP:0045045" ], "is_obsolete": "", "replace_id": "" }, "HP:0033441": { "name": [ "elevated circulating hexanoylcarnitine concentration", "elevate circulate hexanoylcarnitine concentration" ], "alt_id": [], "def": "Increased concentration of hexanoylcarnitine in the blood circulation.", "synonym": [ [ "elevated circulating o - hexanoylcarnitine concentration", "elevate circulate o - hexanoylcarnitine concentration" ], [ "elevated plasma hexanoylcarnitine , c6:0", "elevate plasma hexanoylcarnitine , c6:0" ] ], "xref": [], "is_a": [ "HP:0045045" ], "is_obsolete": "", "replace_id": "" }, "HP:0033442": { "name": [ "elevated circulating glutarylcarnitine concentration", "elevate circulate glutarylcarnitine concentration" ], "alt_id": [], "def": "Increased concentration of glutarylcarnitine in the blood circulation.", "synonym": [ [ "elevated circulating o - glutarylcarnitine concentration", "elevate circulate o - glutarylcarnitine concentration" ], [ "elevated plasma glutarylcarnitine , c5 - dc", "elevate plasma glutarylcarnitine , c5 - dc" ] ], "xref": [], "is_a": [ "HP:0045045" ], "is_obsolete": "", "replace_id": "" }, "HP:0033443": { "name": [ "elevated circulating propionylcarnitine concentration", "elevate circulate propionylcarnitine concentration" ], "alt_id": [], "def": "Increased concentration of propionylcarnitine in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0045045" ], "is_obsolete": "", "replace_id": "" }, "HP:0033444": { "name": [ "elevated circulating dodecanoylcarnitine concentration", "elevate circulate dodecanoylcarnitine concentration" ], "alt_id": [], "def": "Increased concentration of dodecanoylcarnitine in the blood circulation.", "synonym": [ [ "elevated circulating o - dodecanoylcarnitine concentration", "elevate circulate o - dodecanoylcarnitine concentration" ], [ "elevated plasma dodecanoylcarnitine , c12:0", "elevate plasma dodecanoylcarnitine , c12:0" ] ], "xref": [], "is_a": [ "HP:0045045" ], "is_obsolete": "", "replace_id": "" }, "HP:0033445": { "name": [ "reduced circulating acylcarnitine concentration", "reduce circulate acylcarnitine concentration" ], "alt_id": [], "def": "An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.", "synonym": [], "xref": [], "is_a": [ "HP:0012071" ], "is_obsolete": "", "replace_id": "" }, "HP:0033446": { "name": [ "elevated circulating butyrylcarnitine concentration", "elevate circulate butyrylcarnitine concentration" ], "alt_id": [], "def": "Increased concentration of O-butyrylcarnitine in the blood circulation.", "synonym": [ [ "elevated circulating o - butyrylcarnitine concentration", "elevate circulate o - butyrylcarnitine concentration" ] ], "xref": [], "is_a": [ "HP:0045045" ], "is_obsolete": "", "replace_id": "" }, "HP:0033447": { "name": [ "elevated circulating isovalerylcarnitine concentration", "elevate circulate isovalerylcarnitine concentration" ], "alt_id": [], "def": "Increased concentration of O-isovalerylcarnitine in the blood circulation.", "synonym": [ [ "elevated circulating o - isovalerylcarnitine concentration", "elevate circulate o - isovalerylcarnitine concentration" ] ], "xref": [], "is_a": [ "HP:0045045" ], "is_obsolete": "", "replace_id": "" }, "HP:0033448": { "name": [ "increased mid - arm muscle circumference", "increase mid - arm muscle circumference" ], "alt_id": [], "def": "Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.", "synonym": [], "xref": [], "is_a": [ "HP:0001457" ], "is_obsolete": "", "replace_id": "" }, "HP:0033449": { "name": [ "decreased mid - arm muscle circumference", "decrease mid - arm muscle circumference" ], "alt_id": [], "def": "Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.", "synonym": [], "xref": [], "is_a": [ "HP:0001457" ], "is_obsolete": "", "replace_id": "" }, "HP:0033450": { "name": [ "abnormal circulating prealbumin concentration", "abnormal circulate prealbumin concentration" ], "alt_id": [], "def": "Any deviation from normal concentration of albumin in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0033451": { "name": [ "increased circulating prealbumin concentration", "increase circulate prealbumin concentration" ], "alt_id": [], "def": "An elevation above the normal concentration of prealbumin in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033450" ], "is_obsolete": "", "replace_id": "" }, "HP:0033452": { "name": [ "decreased circulating prealbumin concentration", "decrease circulate prealbumin concentration" ], "alt_id": [], "def": "A reduction from the normal concentration of prealbumin in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033450" ], "is_obsolete": "", "replace_id": "" }, "HP:0033453": { "name": [ "limited neck extension", "limited neck extension" ], "alt_id": [], "def": "Reduced abilty to move the head back towards the ceiling so that one is looking upwards.", "synonym": [], "xref": [], "is_a": [ "HP:0005986" ], "is_obsolete": "", "replace_id": "" }, "HP:0033454": { "name": [ "tube feeding", "tube feeding" ], "alt_id": [], "def": "Feeding problem necessitating food and nutrient delivery via a tube.", "synonym": [], "xref": [], "is_a": [ "HP:0011968" ], "is_obsolete": "", "replace_id": "" }, "HP:0033455": { "name": [ "elevated urinary dicarboxylic acid level", "elevate urinary dicarboxylic acid level" ], "alt_id": [], "def": "Increased amount of a dicarboxylic acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0040156" ], "is_obsolete": "", "replace_id": "" }, "HP:0033456": { "name": [ "elevated urine keto acid level", "elevate urine keto acid level" ], "alt_id": [], "def": "Increased amount of a keta acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033303" ], "is_obsolete": "", "replace_id": "" }, "HP:0033457": { "name": [ "elevated urine 3 - methyl - 2 - oxovaleric acid level", "elevate urine 3 - methyl - 2 - oxovaleric acid level" ], "alt_id": [], "def": "Increased amount of 3-methyl-2-oxovaleric acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033456" ], "is_obsolete": "", "replace_id": "" }, "HP:0033458": { "name": [ "elevated urine 4 - methyl - 2 - oxopentanoic acid level", "elevate urine 4 - methyl - 2 - oxopentanoic acid level" ], "alt_id": [], "def": "Increased amount of 4-methyl-2-oxopentanoic acid in the urine.", "synonym": [ [ "increased urine alpha - ketoisocaproic acid level", "increase urine alpha - ketoisocaproic acid level" ] ], "xref": [], "is_a": [ "HP:0033456" ], "is_obsolete": "", "replace_id": "" }, "HP:0033459": { "name": [ "decreased circulating apolipoprotein concentration", "decrease circulate apolipoprotein concentration" ], "alt_id": [], "def": "Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein).", "synonym": [ [ "decreased apolipoprotein level", "decrease apolipoprotein level" ] ], "xref": [], "is_a": [ "HP:0025201" ], "is_obsolete": "", "replace_id": "" }, "HP:0033460": { "name": [ "increased circulating apolipoprotein circulation", "increase circulate apolipoprotein circulation" ], "alt_id": [], "def": "Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein).", "synonym": [], "xref": [], "is_a": [ "HP:0025201" ], "is_obsolete": "", "replace_id": "" }, "HP:0033461": { "name": [ "elevated circulating 3 - hydroxylinoleylcarnitine concentration", "elevate circulate 3 - hydroxylinoleylcarnitine concentration" ], "alt_id": [], "def": "Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation.", "synonym": [ [ "elevated plasma 3 - oh - linoleylcarnitine , c18:1 - oh", "elevate plasma 3 - oh - linoleylcarnitine , c18:1 - oh" ] ], "xref": [], "is_a": [ "HP:0045045" ], "is_obsolete": "", "replace_id": "" }, "HP:0033462": { "name": [ "elevated circulating oleylcarnitine concentration", "elevate circulate oleylcarnitine concentration" ], "alt_id": [], "def": "Increased concentration of oleylcarnitine in the blood circulation.", "synonym": [ [ "elevated plasma oleylcarnitine , c18:1", "elevate plasma oleylcarnitine , c18:1" ] ], "xref": [], "is_a": [ "HP:0045045" ], "is_obsolete": "", "replace_id": "" }, "HP:0033463": { "name": [ "obsolete elevated circulating palmitoleylcarnitine concentration", "obsolete elevate circulate palmitoleylcarnitine concentration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0031544" }, "HP:0033464": { "name": [ "elevated circulating 3 - hydroxypalmitoleylcarnitine concentration", "elevate circulate 3 - hydroxypalmitoleylcarnitine concentration" ], "alt_id": [], "def": "Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation.", "synonym": [ [ "elevated circulating 3 - oh - palmitoleylcarnitine concentration", "elevate circulate 3 - oh - palmitoleylcarnitine concentration" ], [ "elevated plasma 3 - oh - palmitoleylcarnitine , c16:1 - oh", "elevate plasma 3 - oh - palmitoleylcarnitine , c16:1 - oh" ] ], "xref": [], "is_a": [ "HP:0045045" ], "is_obsolete": "", "replace_id": "" }, "HP:0033465": { "name": [ "elevated circulating tetradecanolycarnitine concentration", "elevate circulate tetradecanolycarnitine concentration" ], "alt_id": [], "def": "Elevated circulating tetradecanoyl concentration.", "synonym": [], "xref": [], "is_a": [ "HP:0045045" ], "is_obsolete": "", "replace_id": "" }, "HP:0033466": { "name": [ "weak grip", "weak grip" ], "alt_id": [], "def": "Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand.", "synonym": [], "xref": [], "is_a": [ "HP:0030237" ], "is_obsolete": "", "replace_id": "" }, "HP:0033467": { "name": [ "low 10 - minute apgar score", "low 10 - minute apgar score" ], "alt_id": [], "def": "A normal APGAR score can be coded as 'not Low 10-minute APGAR score'.", "synonym": [], "xref": [], "is_a": [ "HP:0030917" ], "is_obsolete": "", "replace_id": "" }, "HP:0033468": { "name": [ "10 - minute apgar score of 0", "10 - minute apgar score of 0" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0033467" ], "is_obsolete": "", "replace_id": "" }, "HP:0033469": { "name": [ "10 - minute apgar score of 1", "10 - minute apgar score of 1" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0033467" ], "is_obsolete": "", "replace_id": "" }, "HP:0033470": { "name": [ "10 - minute apgar score of 2", "10 - minute apgar score of 2" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0033467" ], "is_obsolete": "", "replace_id": "" }, "HP:0033471": { "name": [ "10 - minute apgar score of 3", "10 - minute apgar score of 3" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0033467" ], "is_obsolete": "", "replace_id": "" }, "HP:0033472": { "name": [ "10 - minute apgar score of 4", "10 - minute apgar score of 4" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0033467" ], "is_obsolete": "", "replace_id": "" }, "HP:0033473": { "name": [ "10 - minute apgar score of 5", "10 - minute apgar score of 5" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0033467" ], "is_obsolete": "", "replace_id": "" }, "HP:0033474": { "name": [ "10 - minute apgar score of 6", "10 - minute apgar score of 6" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0033467" ], "is_obsolete": "", "replace_id": "" }, "HP:0033475": { "name": [ "limited shoulder abduction", "limited shoulder abduction" ], "alt_id": [], "def": "Decreased ability to move the arm away from the midline of the body.", "synonym": [], "xref": [], "is_a": [ "HP:0006467" ], "is_obsolete": "", "replace_id": "" }, "HP:0033476": { "name": [ "extractable nuclear antigen positivity", "extractable nuclear antigen positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution.", "synonym": [], "xref": [], "is_a": [ "HP:0003493" ], "is_obsolete": "", "replace_id": "" }, "HP:0033477": { "name": [ "abnormal circulating lipoprotein lipase concentration", "abnormal circulate lipoprotein lipase concentration" ], "alt_id": [], "def": "A deviation from the normal concentration of lipoprotein lipase in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0033478": { "name": [ "increased circulating lipoprotein lipase concentration", "increase circulate lipoprotein lipase concentration" ], "alt_id": [], "def": "Increased concentration of lipoprotein lipase in the blood circulation.", "synonym": [ [ "elevated lipoprotein lipase level", "elevate lipoprotein lipase level" ] ], "xref": [], "is_a": [ "HP:0033477" ], "is_obsolete": "", "replace_id": "" }, "HP:0033479": { "name": [ "abnormal circulating bilirubin concentration", "abnormal circulate bilirubin concentration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0010995" ], "is_obsolete": "", "replace_id": "" }, "HP:0033480": { "name": [ "hypobilirubinemia", "hypobilirubinemia" ], "alt_id": [], "def": "Decreased circulation of bilirubin in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033479" ], "is_obsolete": "", "replace_id": "" }, "HP:0033481": { "name": [ "limited lateral neck flexion", "limited lateral neck flexion" ], "alt_id": [], "def": "Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder.", "synonym": [], "xref": [], "is_a": [ "HP:0005986" ], "is_obsolete": "", "replace_id": "" }, "HP:0033482": { "name": [ "limited shoulder flexion", "limited shoulder flexion" ], "alt_id": [], "def": "A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head.", "synonym": [], "xref": [], "is_a": [ "HP:0006467" ], "is_obsolete": "", "replace_id": "" }, "HP:0033483": { "name": [ "podocyte infolding", "podocyte infolding" ], "alt_id": [], "def": "Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM.", "synonym": [], "xref": [], "is_a": [ "HP:0031265" ], "is_obsolete": "", "replace_id": "" }, "HP:0033484": { "name": [ "elevated circulating linoleylcarnitine concentration", "elevate circulate linoleylcarnitine concentration" ], "alt_id": [], "def": "Increased concentration of linoleylcarnitine in the blood circulation.", "synonym": [ [ "elevated plasma linoleylcarnitine , c18:2", "elevate plasma linoleylcarnitine , c18:2" ] ], "xref": [], "is_a": [ "HP:0045045" ], "is_obsolete": "", "replace_id": "" }, "HP:0033485": { "name": [ "glomerular basement membrane disruption", "glomerular basement membrane disruption" ], "alt_id": [], "def": "A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver.", "synonym": [ [ "disruption of the glomerular basement membrane", "disruption of the glomerular basement membrane" ], [ "glomerular basement membrane rupture", "glomerular basement membrane rupture" ] ], "xref": [], "is_a": [ "HP:0033282" ], "is_obsolete": "", "replace_id": "" }, "HP:0033486": { "name": [ "abnormal glomerular basement membrane texture", "abnormal glomerular basement membrane texture" ], "alt_id": [], "def": "Anomalous appearance or structure of the surface of the glomerular basement membrane.", "synonym": [], "xref": [], "is_a": [ "HP:0033282" ], "is_obsolete": "", "replace_id": "" }, "HP:0033487": { "name": [ "glomerular basement membranes powdery deposit", "glomerular basement membrane powdery deposit" ], "alt_id": [], "def": "Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane.", "synonym": [ [ "glomerular basement membranes with powdery deposit", "glomerular basement membrane with powdery deposit" ] ], "xref": [], "is_a": [ "HP:0033486" ], "is_obsolete": "", "replace_id": "" }, "HP:0033488": { "name": [ "glomerular endocapillary leukocyte hypercellularity", "glomerular endocapillary leukocyte hypercellularity" ], "alt_id": [], "def": "Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.", "synonym": [ [ "glomerular endocapillary hypercellularity consisting of leukocytes", "glomerular endocapillary hypercellularity consist of leukocyte" ] ], "xref": [], "is_a": [ "HP:0025363" ], "is_obsolete": "", "replace_id": "" }, "HP:0033489": { "name": [ "glomerular endocapillary neutrophil hypercellularity", "glomerular endocapillary neutrophil hypercellularity" ], "alt_id": [], "def": "Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.", "synonym": [], "xref": [], "is_a": [ "HP:0033488" ], "is_obsolete": "", "replace_id": "" }, "HP:0033490": { "name": [ "glomerular endocapillary foam - cell hypercellularity", "glomerular endocapillary foam - cell hypercellularity" ], "alt_id": [], "def": "Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space.", "synonym": [], "xref": [], "is_a": [ "HP:0033488" ], "is_obsolete": "", "replace_id": "" }, "HP:0033491": { "name": [ "global mesangial sclerosis", "global mesangial sclerosis" ], "alt_id": [], "def": "A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity).", "synonym": [], "xref": [], "is_a": [ "HP:0033232" ], "is_obsolete": "", "replace_id": "" }, "HP:0033492": { "name": [ "podocyte cytoskeletal condensation", "podocyte cytoskeletal condensation" ], "alt_id": [], "def": "Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte.", "synonym": [], "xref": [], "is_a": [ "HP:0031265" ], "is_obsolete": "", "replace_id": "" }, "HP:0033493": { "name": [ "mesangial matrix expansion", "mesangial matrix expansion" ], "alt_id": [], "def": "Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas.", "synonym": [ [ "increased glomerular mesangial matrix", "increase glomerular mesangial matrix" ] ], "xref": [], "is_a": [ "HP:0033232" ], "is_obsolete": "", "replace_id": "" }, "HP:0033494": { "name": [ "glomerular basement membrane amyloid spicule", "glomerular basement membrane amyloid spicule" ], "alt_id": [], "def": "Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains.", "synonym": [], "xref": [], "is_a": [ "HP:0033282" ], "is_obsolete": "", "replace_id": "" }, "HP:0033495": { "name": [ "segmental glomerulosclerosis", "segmental glomerulosclerosis" ], "alt_id": [], "def": "Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule.", "synonym": [], "xref": [], "is_a": [ "HP:0000096" ], "is_obsolete": "", "replace_id": "" }, "HP:0033496": { "name": [ "perihilar segmental glomerulosclerosis", "perihilar segmental glomerulosclerosis" ], "alt_id": [], "def": "Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule.", "synonym": [ [ "segmental glomerulosclerosis , perihilar pattern", "segmental glomerulosclerosis , perihilar pattern" ] ], "xref": [], "is_a": [ "HP:0033495" ], "is_obsolete": "", "replace_id": "" }, "HP:0033497": { "name": [ "tip variant segmental glomerulosclerosis", "tip variant segmental glomerulosclerosis" ], "alt_id": [], "def": "Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.", "synonym": [ [ "segmental glomerulosclerosis , tip variant", "segmental glomerulosclerosis , tip variant" ] ], "xref": [], "is_a": [ "HP:0033495" ], "is_obsolete": "", "replace_id": "" }, "HP:0033498": { "name": [ "segmental glomerulosclerosis away from the vascular and tubular poles", "segmental glomerulosclerosis away from the vascular and tubular pole" ], "alt_id": [], "def": "Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.", "synonym": [], "xref": [], "is_a": [ "HP:0033495" ], "is_obsolete": "", "replace_id": "" }, "HP:0033499": { "name": [ "glomerular basement membrane electron dense deposits", "glomerular basement membrane electron dense deposit" ], "alt_id": [], "def": "Electron-dense deposits in the lamina densa with a ribbon or a sausage structure.", "synonym": [], "xref": [], "is_a": [ "HP:0033282" ], "is_obsolete": "", "replace_id": "" }, "HP:0033500": { "name": [ "subendothelial glomerular basement membrane electron dense deposits", "subendothelial glomerular basement membrane electron dense deposit" ], "alt_id": [], "def": "Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect.", "synonym": [], "xref": [], "is_a": [ "HP:0033499" ], "is_obsolete": "", "replace_id": "" }, "HP:0033501": { "name": [ "subepithelial glomerular basement membrane electron dense deposits", "subepithelial glomerular basement membrane electron dense deposit" ], "alt_id": [], "def": "Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM.", "synonym": [], "xref": [], "is_a": [ "HP:0033499" ], "is_obsolete": "", "replace_id": "" }, "HP:0033502": { "name": [ "abnormal esterified to free carnitine ratio", "abnormal esterify to free carnitine ratio" ], "alt_id": [], "def": "Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.", "synonym": [], "xref": [], "is_a": [ "HP:0012071" ], "is_obsolete": "", "replace_id": "" }, "HP:0033503": { "name": [ "elevated csf fumarate", "elevate csf fumarate" ], "alt_id": [], "def": "An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid.", "synonym": [], "xref": [], "is_a": [ "HP:0025454" ], "is_obsolete": "", "replace_id": "" }, "HP:0033504": { "name": [ "elevated circulating fumarate concentration", "elevate circulate fumarate concentration" ], "alt_id": [], "def": "An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0010995" ], "is_obsolete": "", "replace_id": "" }, "HP:0033505": { "name": [ "livedo reticularis", "livedo reticularis" ], "alt_id": [], "def": "Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension.", "synonym": [], "xref": [], "is_a": [ "HP:0033832" ], "is_obsolete": "", "replace_id": "" }, "HP:0033506": { "name": [ "increased esterified to free carnitine ratio", "increase esterify to free carnitine ratio" ], "alt_id": [], "def": "An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.", "synonym": [], "xref": [], "is_a": [ "HP:0033502" ], "is_obsolete": "", "replace_id": "" }, "HP:0033507": { "name": [ "decreased esterified to free carnitine ratio", "decrease esterify to free carnitine ratio" ], "alt_id": [], "def": "A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.", "synonym": [], "xref": [], "is_a": [ "HP:0033502" ], "is_obsolete": "", "replace_id": "" }, "HP:0033508": { "name": [ "ebv meningitis", "ebv meningitis" ], "alt_id": [], "def": "Inflammation of the meninges related to infection by Epstein-Barr virus.", "synonym": [ [ "epstein - barr virus meningitis", "epstein - barr virus meningitis" ] ], "xref": [], "is_a": [ "HP:0031691" ], "is_obsolete": "", "replace_id": "" }, "HP:0033509": { "name": [ "ebv encephalitis", "ebv encephalitis" ], "alt_id": [], "def": "Inflamation of the brain related to infection by Epstein-Barr virus.", "synonym": [ [ "epstein - barr virus encephalitis", "epstein - barr virus encephalitis" ] ], "xref": [], "is_a": [ "HP:0031691", "HP:0033993" ], "is_obsolete": "", "replace_id": "" }, "HP:0033510": { "name": [ "cutaneous horn", "cutaneous horn" ], "alt_id": [], "def": "A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin.", "synonym": [ [ "cornu cutaneum", "cornu cutaneum" ] ], "xref": [], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0033511": { "name": [ "drug addiction", "drug addiction" ], "alt_id": [], "def": "Chronic compulsive drug seeking and continued use despite harmful consequences.", "synonym": [], "xref": [], "is_a": [ "HP:0030858" ], "is_obsolete": "", "replace_id": "" }, "HP:0033512": { "name": [ "stimulant addiction", "stimulant addiction" ], "alt_id": [], "def": "Addiction to a stimulant drug, defined as a drug that typically increases alertness, attention and energy while also elevating blood pressure, heart rate and breathing.", "synonym": [ [ "stimulant dependence", "stimulant dependence" ] ], "xref": [], "is_a": [ "HP:0033511" ], "is_obsolete": "", "replace_id": "" }, "HP:0033513": { "name": [ "cocaine addiction", "cocaine addiction" ], "alt_id": [], "def": "Addiction to cocaine.", "synonym": [ [ "cocaine dependence", "cocaine dependence" ] ], "xref": [], "is_a": [ "HP:0033512" ], "is_obsolete": "", "replace_id": "" }, "HP:0033514": { "name": [ "amphetamine addiction", "amphetamine addiction" ], "alt_id": [], "def": "Addiction to amphetamine or dextroamphetamine.", "synonym": [ [ "amphetamine dependence", "amphetamine dependence" ], [ "dextroamphetamine addiction", "dextroamphetamine addiction" ], [ "dextroamphetamine dependence", "dextroamphetamine dependence" ] ], "xref": [], "is_a": [ "HP:0033512" ], "is_obsolete": "", "replace_id": "" }, "HP:0033515": { "name": [ "opioid addiction", "opioid addiction" ], "alt_id": [], "def": "Addiction to opioids.", "synonym": [ [ "opioid dependence", "opioid dependence" ] ], "xref": [], "is_a": [ "HP:0033511" ], "is_obsolete": "", "replace_id": "" }, "HP:0033516": { "name": [ "benzodiazepine addiction", "benzodiazepine addiction" ], "alt_id": [], "def": "Addiction to a benzodiazepine.", "synonym": [ [ "benzodiazepine dependence", "benzodiazepine dependence" ] ], "xref": [], "is_a": [ "HP:0033511" ], "is_obsolete": "", "replace_id": "" }, "HP:0033517": { "name": [ "heroin addiction", "heroin addiction" ], "alt_id": [], "def": "Addiction to heroin.", "synonym": [ [ "heroin dependence", "heroin dependence" ] ], "xref": [], "is_a": [ "HP:0033515" ], "is_obsolete": "", "replace_id": "" }, "HP:0033518": { "name": [ "methylphenidate addiction", "methylphenidate addiction" ], "alt_id": [], "def": "Addiction to methylphenidate.", "synonym": [ [ "methylphenidate dependence", "methylphenidate dependence" ] ], "xref": [], "is_a": [ "HP:0033512" ], "is_obsolete": "", "replace_id": "" }, "HP:0033519": { "name": [ "methamphetamine addiction", "methamphetamine addiction" ], "alt_id": [], "def": "Addiction to methamphetamine.", "synonym": [ [ "methamphetamine dependence", "methamphetamine dependence" ] ], "xref": [], "is_a": [ "HP:0033512" ], "is_obsolete": "", "replace_id": "" }, "HP:0033520": { "name": [ "paradoxical embolism", "paradoxical embolism" ], "alt_id": [], "def": "Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.\\nComment: Paradoxical embolism occurs most commonly through an intracardiac defect at the atrial level, but can also be due to another type of right-to-left-shunt, as for example in pulmonary arteriovenous malformations. Paradoxical embolism may lead to serious complications as ischemic stroke.", "synonym": [], "xref": [], "is_a": [ "HP:0001907" ], "is_obsolete": "", "replace_id": "" }, "HP:0033521": { "name": [ "nasal dryness", "nasal dryness" ], "alt_id": [], "def": "A lack of humidification of the nasal mucosa.", "synonym": [], "xref": [], "is_a": [ "HP:0000433" ], "is_obsolete": "", "replace_id": "" }, "HP:0033522": { "name": [ "cerebral cavernous malformation", "cerebral cavernous malformation" ], "alt_id": [], "def": "A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries.", "synonym": [], "xref": [], "is_a": [ "HP:0001048", "HP:0100659" ], "is_obsolete": "", "replace_id": "" }, "HP:0033523": { "name": [ "abnormal sperm principal piece morphology", "abnormal sperm principal piece morphology" ], "alt_id": [], "def": "A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece.", "synonym": [], "xref": [], "is_a": [ "HP:0012868" ], "is_obsolete": "", "replace_id": "" }, "HP:0033524": { "name": [ "abnormal sperm axoneme morphology", "abnormal sperm axoneme morphology" ], "alt_id": [], "def": "Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC.", "synonym": [], "xref": [], "is_a": [ "HP:0012864" ], "is_obsolete": "", "replace_id": "" }, "HP:0033525": { "name": [ "absent sperm axoneme central pair complex", "absent sperm axoneme central pair complex" ], "alt_id": [], "def": "Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern.", "synonym": [ [ "absent central pair complex ( 9+0 pattern )", "absent central pair complex ( 9+0 pattern )" ] ], "xref": [], "is_a": [ "HP:0033524" ], "is_obsolete": "", "replace_id": "" }, "HP:0033526": { "name": [ "limited ankle dorsiflexion", "limited ankle dorsiflexion" ], "alt_id": [], "def": "Reduced ability to move the foot up toward the shin.", "synonym": [], "xref": [], "is_a": [ "HP:0010505" ], "is_obsolete": "", "replace_id": "" }, "HP:0033527": { "name": [ "decreased gonadotropin - stimulated testosterone - to - androstenedione ratio", "decrease gonadotropin - stimulate testosterone - to - androstenedione ratio" ], "alt_id": [], "def": "A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin).", "synonym": [ [ "decreased plasma testosterone - to - androstenedione ratio", "decrease plasma testosterone - to - androstenedione ratio" ] ], "xref": [], "is_a": [ "HP:0030347" ], "is_obsolete": "", "replace_id": "" }, "HP:0033528": { "name": [ "abnormal cardiac output", "abnormal cardiac output" ], "alt_id": [], "def": "A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs.", "synonym": [], "xref": [], "is_a": [ "HP:0011028" ], "is_obsolete": "", "replace_id": "" }, "HP:0033529": { "name": [ "abnormal cardiac index", "abnormal cardiac index" ], "alt_id": [], "def": "Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area.", "synonym": [], "xref": [], "is_a": [ "HP:0033528" ], "is_obsolete": "", "replace_id": "" }, "HP:0033530": { "name": [ "increased cardiac index", "increase cardiac index" ], "alt_id": [], "def": "An elevated cardiac index, defined as cardiac output divided by body surface area.", "synonym": [], "xref": [], "is_a": [ "HP:0033529" ], "is_obsolete": "", "replace_id": "" }, "HP:0033531": { "name": [ "decreased cardiac index", "decrease cardiac index" ], "alt_id": [], "def": "A reduced cardiac index, defined as cardiac output divided by body surface area.", "synonym": [], "xref": [], "is_a": [ "HP:0033529" ], "is_obsolete": "", "replace_id": "" }, "HP:0033532": { "name": [ "decreased cardiac output", "decrease cardiac output" ], "alt_id": [], "def": "A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.", "synonym": [], "xref": [], "is_a": [ "HP:0033528" ], "is_obsolete": "", "replace_id": "" }, "HP:0033533": { "name": [ "increased cardiac output", "increase cardiac output" ], "alt_id": [], "def": "An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.", "synonym": [], "xref": [], "is_a": [ "HP:0033528" ], "is_obsolete": "", "replace_id": "" }, "HP:0033534": { "name": [ "increased circulating brain natriuretic peptide concentration", "increase circulate brain natriuretic peptide concentration" ], "alt_id": [], "def": "An increased concentration of brain natriuretic peptide in the blood circulation.", "synonym": [ [ "elevated circulating bnp concentration", "elevate circulate bnp concentration" ], [ "increased b - type natriuretic peptide", "increase b - type natriuretic peptide" ], [ "increased ventricular natriuretic peptide", "increase ventricular natriuretic peptide" ] ], "xref": [], "is_a": [ "HP:0031138" ], "is_obsolete": "", "replace_id": "" }, "HP:0033535": { "name": [ "reduced platelet dense granules", "reduce platelet dense granule" ], "alt_id": [], "def": "Decreased number of platelet dense granules, a type of platelet organelle.", "synonym": [], "xref": [], "is_a": [ "HP:0012530" ], "is_obsolete": "", "replace_id": "" }, "HP:0033536": { "name": [ "reduced platelet alpha granules", "reduce platelet alpha granule" ], "alt_id": [], "def": "A reduced number of platelet alpha granules.", "synonym": [], "xref": [], "is_a": [ "HP:0012528" ], "is_obsolete": "", "replace_id": "" }, "HP:0033537": { "name": [ "mosaic pulmonary attenuation pattern", "mosaic pulmonary attenuation pattern" ], "alt_id": [], "def": "Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging.", "synonym": [], "xref": [], "is_a": [ "HP:0025389" ], "is_obsolete": "", "replace_id": "" }, "HP:0033538": { "name": [ "aortic annulus calcification", "aortic annulus calcification" ], "alt_id": [], "def": "Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract.", "synonym": [ [ "aortic annular calcification", "aortic annular calcification" ] ], "xref": [], "is_a": [ "HP:0004380" ], "is_obsolete": "", "replace_id": "" }, "HP:0033539": { "name": [ "bilateral apical pulmonary fibrosis", "bilateral apical pulmonary fibrosis" ], "alt_id": [], "def": "A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray.", "synonym": [], "xref": [], "is_a": [ "HP:0002206" ], "is_obsolete": "", "replace_id": "" }, "HP:0033540": { "name": [ "reversible airflow obstruction", "reversible airflow obstruction" ], "alt_id": [], "def": "Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.", "synonym": [ [ "reversible pulmonary obstruction", "reversible pulmonary obstruction" ] ], "xref": [], "is_a": [ "HP:0006536" ], "is_obsolete": "", "replace_id": "" }, "HP:0033541": { "name": [ "irreversible airflow obstruction", "irreversible airflow obstruction" ], "alt_id": [], "def": "Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.", "synonym": [ [ "irreversible pulmonary obstruction", "irreversible pulmonary obstruction" ] ], "xref": [], "is_a": [ "HP:0006536" ], "is_obsolete": "", "replace_id": "" }, "HP:0033542": { "name": [ "bronchial wall thickening", "bronchial wall thickening" ], "alt_id": [], "def": "Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density.", "synonym": [ [ "peribronchial cuffing", "peribronchial cuffing" ], [ "peribronchial thickening", "peribronchial thickening" ] ], "xref": [], "is_a": [ "HP:0025426" ], "is_obsolete": "", "replace_id": "" }, "HP:0033543": { "name": [ "nicotine addiction", "nicotine addiction" ], "alt_id": [], "def": "Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences.", "synonym": [ [ "nicotine dependence", "nicotine dependence" ] ], "xref": [], "is_a": [ "HP:0033511" ], "is_obsolete": "", "replace_id": "" }, "HP:0033544": { "name": [ "mesangial fibril deposition", "mesangial fibril deposition" ], "alt_id": [], "def": "Extracellular mesangial accumulation of slender proteinaceous fibers.", "synonym": [], "xref": [], "is_a": [ "HP:0001966" ], "is_obsolete": "", "replace_id": "" }, "HP:0033545": { "name": [ "mesangial fibrillary deposits", "mesangial fibrillary deposit" ], "alt_id": [], "def": "Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material.", "synonym": [], "xref": [], "is_a": [ "HP:0033544" ], "is_obsolete": "", "replace_id": "" }, "HP:0033546": { "name": [ "mesangial microfibril deposition", "mesangial microfibril deposition" ], "alt_id": [], "def": "Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins.", "synonym": [], "xref": [], "is_a": [ "HP:0033544" ], "is_obsolete": "", "replace_id": "" }, "HP:0033547": { "name": [ "mesangial immunotactoid deposits", "mesangial immunotactoid deposit" ], "alt_id": [], "def": "Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination.", "synonym": [], "xref": [], "is_a": [ "HP:0033544" ], "is_obsolete": "", "replace_id": "" }, "HP:0033548": { "name": [ "mesangial amyloid deposition", "mesangial amyloid deposition" ], "alt_id": [], "def": "Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass.", "synonym": [], "xref": [], "is_a": [ "HP:0033544" ], "is_obsolete": "", "replace_id": "" }, "HP:0033549": { "name": [ "nodular mesangiosclerosis", "nodular mesangiosclerosis" ], "alt_id": [], "def": "Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei.", "synonym": [], "xref": [], "is_a": [ "HP:0033232" ], "is_obsolete": "", "replace_id": "" }, "HP:0033550": { "name": [ "necrotizing pulmonary granulomatosis", "necrotizing pulmonary granulomatosis" ], "alt_id": [], "def": "A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese.", "synonym": [ [ "caseating pulmonary granulomatosis", "caseate pulmonary granulomatosis" ] ], "xref": [], "is_a": [ "HP:0030250" ], "is_obsolete": "", "replace_id": "" }, "HP:0033551": { "name": [ "non - necrotizing pulmonary granulomatosis", "non - necrotizing pulmonary granulomatosis" ], "alt_id": [], "def": "A granuloma located in the lung that is not associated with necrotic changes.", "synonym": [ [ "non - caseating pulmonary granulomatosis", "non - caseate pulmonary granulomatosis" ] ], "xref": [], "is_a": [ "HP:0030250" ], "is_obsolete": "", "replace_id": "" }, "HP:0033552": { "name": [ "chronic villitis", "chronic villitis" ], "alt_id": [], "def": "Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis.", "synonym": [ [ "chronic villitis ( non - infectious )", "chronic villitis ( non - infectious )" ], [ "nonspecific chronic villitis", "nonspecific chronic villitis" ], [ "villitis of unknown aetiology", "villitis of unknown aetiology" ], [ "villitis of unknown etiology", "villitis of unknown etiology" ] ], "xref": [], "is_a": [ "HP:0011409" ], "is_obsolete": "", "replace_id": "" }, "HP:0033553": { "name": [ "septic embolism", "septic embolism" ], "alt_id": [], "def": "Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system.", "synonym": [ [ "septic emboli", "septic embolus" ] ], "xref": [], "is_a": [ "HP:0001907" ], "is_obsolete": "", "replace_id": "" }, "HP:0033554": { "name": [ "anti - mi2 antibody positivity", "anti - mi2 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen.", "synonym": [], "xref": [], "is_a": [ "HP:0003493" ], "is_obsolete": "", "replace_id": "" }, "HP:0033555": { "name": [ "anti - ro / ss - a antibody positivity", "anti - ro / s - a antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens.", "synonym": [], "xref": [], "is_a": [ "HP:0033476" ], "is_obsolete": "", "replace_id": "" }, "HP:0033556": { "name": [ "anti - nucleoporin 62 antibody positivity", "anti - nucleoporin 62 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62.", "synonym": [ [ "anti - p62 antibody positivity", "anti - p62 antibody positivity" ] ], "xref": [], "is_a": [ "HP:0003493" ], "is_obsolete": "", "replace_id": "" }, "HP:0033557": { "name": [ "anti - proteinase 3 antibody positivity", "anti - proteinase 3 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils", "synonym": [ [ "anti - pr3 antibody positivity", "anti - pr3 antibody positivity" ] ], "xref": [], "is_a": [ "HP:0032230" ], "is_obsolete": "", "replace_id": "" }, "HP:0033558": { "name": [ "anti - histone antibody positivity", "anti - histone antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the blood circulation that react against histone antigens.", "synonym": [], "xref": [], "is_a": [ "HP:0003493" ], "is_obsolete": "", "replace_id": "" }, "HP:0033559": { "name": [ "anti - myeloperoxidase antibody positivity", "anti - myeloperoxidase antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the blood circulation that react against myeloperoxidase.", "synonym": [ [ "anti - mpo antibody positivity", "anti - mpo antibody positivity" ] ], "xref": [], "is_a": [ "HP:0032229" ], "is_obsolete": "", "replace_id": "" }, "HP:0033560": { "name": [ "anti - pm - scl antibody positivity", "anti - pm - scl antibody positivity" ], "alt_id": [], "def": "Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40.", "synonym": [], "xref": [], "is_a": [ "HP:0003493" ], "is_obsolete": "", "replace_id": "" }, "HP:0033561": { "name": [ "anti - bactericidal / permeability - increasing protein antibody positivity", "anti - bactericidal / permeability - increase protein antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. \\nBPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies.", "synonym": [ [ "anti - bpi antibody positivity", "anti - bpi antibody positivity" ] ], "xref": [], "is_a": [ "HP:0032230" ], "is_obsolete": "", "replace_id": "" }, "HP:0033562": { "name": [ "anti - glycoprotein - 210 antibody positivity", "anti - glycoprotein - 210 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210.", "synonym": [ [ "anti - gp210 antibody positivity", "anti - gp210 antibody positivity" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0033563": { "name": [ "anti - tissue transglutaminase antibody positivity", "anti - tissue transglutaminase antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase.", "synonym": [ [ "anti - ttg antibody positivity", "anti - ttg antibody positivity" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0033564": { "name": [ "stasis dermatitis", "stasis dermatitis" ], "alt_id": [], "def": "Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus.", "synonym": [ [ "varicose eczema", "varicose eczema" ], [ "venous eczema", "venous eczema" ] ], "xref": [], "is_a": [ "HP:0000964" ], "is_obsolete": "", "replace_id": "" }, "HP:0033565": { "name": [ "anti - epidermal transglutaminase antibody positivity", "anti - epidermal transglutaminase antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase.", "synonym": [ [ "anti - epidermal transglutaminase ( anti - etg ) antibody", "anti - epidermal transglutaminase ( anti - etg ) antibody" ], [ "anti - etg antibody positivity", "anti - etg antibody positivity" ], [ "anti - keratinocyte transglutaminase", "anti - keratinocyte transglutaminase" ], [ "anti - tg3 antibody", "anti - tg3 antibody" ] ], "xref": [], "is_a": [ "HP:0033563" ], "is_obsolete": "", "replace_id": "" }, "HP:0033566": { "name": [ "abnormal ventricular axis", "abnormal ventricular axis" ], "alt_id": [], "def": "Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization.", "synonym": [ [ "abnormal qrs axis", "abnormal qrs axis" ] ], "xref": [], "is_a": [ "HP:0003115" ], "is_obsolete": "", "replace_id": "" }, "HP:0033567": { "name": [ "right axis deviation", "right axis deviation" ], "alt_id": [], "def": "A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used.", "synonym": [ [ "electrical right axis deviation", "electrical right axis deviation" ] ], "xref": [], "is_a": [ "HP:0033566" ], "is_obsolete": "", "replace_id": "" }, "HP:0033568": { "name": [ "left axis deviation", "leave axis deviation" ], "alt_id": [], "def": "A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.", "synonym": [ [ "electrical left axis deviation", "electrical leave axis deviation" ] ], "xref": [], "is_a": [ "HP:0033566" ], "is_obsolete": "", "replace_id": "" }, "HP:0033569": { "name": [ "extreme axis deviation", "extreme axis deviation" ], "alt_id": [], "def": "A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right.", "synonym": [], "xref": [], "is_a": [ "HP:0033566" ], "is_obsolete": "", "replace_id": "" }, "HP:0033570": { "name": [ "indeterminate ventricular axis", "indeterminate ventricular axis" ], "alt_id": [], "def": "A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection.", "synonym": [], "xref": [], "is_a": [ "HP:0033566" ], "is_obsolete": "", "replace_id": "" }, "HP:0033571": { "name": [ "peripheral lung neovascularity", "peripheral lung neovascularity" ], "alt_id": [], "def": "The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy.", "synonym": [], "xref": [], "is_a": [ "HP:0004930" ], "is_obsolete": "", "replace_id": "" }, "HP:0033572": { "name": [ "anti - h1 antibody positivity", "anti - h1 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the blood circulation that react against histone H1.", "synonym": [], "xref": [], "is_a": [ "HP:0033558" ], "is_obsolete": "", "replace_id": "" }, "HP:0033573": { "name": [ "anti - h4 antibody positivity", "anti - h4 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the blood circulation that react against histone H4.", "synonym": [], "xref": [], "is_a": [ "HP:0033558" ], "is_obsolete": "", "replace_id": "" }, "HP:0033574": { "name": [ "anti - h3 antibody positivity", "anti - h3 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the blood circulation that react against histone H3.", "synonym": [], "xref": [], "is_a": [ "HP:0033558" ], "is_obsolete": "", "replace_id": "" }, "HP:0033575": { "name": [ "anti - h2a antibody positivity", "anti - h2a antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the blood circulation that react against histone H2A.", "synonym": [], "xref": [], "is_a": [ "HP:0033558" ], "is_obsolete": "", "replace_id": "" }, "HP:0033576": { "name": [ "anti - h2b antibody positivity", "anti - h2b antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the blood circulation that react against histone H2B.", "synonym": [], "xref": [], "is_a": [ "HP:0033558" ], "is_obsolete": "", "replace_id": "" }, "HP:0033577": { "name": [ "in situ pulmonary artery thrombosis", "in situ pulmonary artery thrombosis" ], "alt_id": [], "def": "Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease.", "synonym": [], "xref": [], "is_a": [ "HP:0030966" ], "is_obsolete": "", "replace_id": "" }, "HP:0033578": { "name": [ "pre - capillary pulmonary hypertension", "pre - capillary pulmonary hypertension" ], "alt_id": [], "def": "Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg).", "synonym": [ [ "precapillary pulmonary hypertension", "precapillary pulmonary hypertension" ] ], "xref": [], "is_a": [ "HP:0004890" ], "is_obsolete": "", "replace_id": "" }, "HP:0033579": { "name": [ "decreased growth hormone responses to growth hormone - releasing hormone challenge", "decreased growth hormone responses to growth hormone - release hormone challenge" ], "alt_id": [], "def": "Insufficient growth hormone secretion following administration of growth hormone-releasing hormone.", "synonym": [ [ "impaired growth hormone secretory responses after growth hormone - releasing hormone challenge", "impaired growth hormone secretory response after growth hormone - release hormone challenge" ] ], "xref": [], "is_a": [ "HP:0000824" ], "is_obsolete": "", "replace_id": "" }, "HP:0033580": { "name": [ "compound motor action potential abnormality", "compound motor action potential abnormality" ], "alt_id": [], "def": "An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV).", "synonym": [], "xref": [], "is_a": [ "HP:0040131" ], "is_obsolete": "", "replace_id": "" }, "HP:0033581": { "name": [ "absent peripheral lymph nodes in presence of infection", "absent peripheral lymph node in presence of infection" ], "alt_id": [], "def": "The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases.", "synonym": [], "xref": [], "is_a": [ "HP:0002733" ], "is_obsolete": "", "replace_id": "" }, "HP:0033582": { "name": [ "pulmonary interstitial lymphocyte infiltration", "pulmonary interstitial lymphocyte infiltration" ], "alt_id": [], "def": "Abnormal accumulation of lymphocytes in the interstitium of the lung.", "synonym": [], "xref": [], "is_a": [ "HP:0006530" ], "is_obsolete": "", "replace_id": "" }, "HP:0033583": { "name": [ "follicular bronchiolitis", "follicular bronchiolitis" ], "alt_id": [], "def": "Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.", "synonym": [], "xref": [], "is_a": [ "HP:0033582" ], "is_obsolete": "", "replace_id": "" }, "HP:0033584": { "name": [ "nonspecific interstitial pneumonia", "nonspecific interstitial pneumonia" ], "alt_id": [], "def": "Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa.", "synonym": [ [ "nonspecific interstitial pneumonitis", "nonspecific interstitial pneumonitis" ], [ "temporally uniform pulmonary inflammation", "temporally uniform pulmonary inflammation" ] ], "xref": [], "is_a": [ "HP:0006515" ], "is_obsolete": "", "replace_id": "" }, "HP:0033585": { "name": [ "fibrotic non - specific interstitial pneumonia", "fibrotic non - specific interstitial pneumonia" ], "alt_id": [], "def": "A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation.", "synonym": [], "xref": [], "is_a": [ "HP:0033584" ], "is_obsolete": "", "replace_id": "" }, "HP:0033586": { "name": [ "cellular non - specific interstitial pneumonia", "cellular non - specific interstitial pneumonia" ], "alt_id": [], "def": "A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia.", "synonym": [], "xref": [], "is_a": [ "HP:0033584" ], "is_obsolete": "", "replace_id": "" }, "HP:0033587": { "name": [ "vulvar abscess", "vulvar abscess" ], "alt_id": [], "def": "A circumscribed area of pus or necrotic debris in the vulvar region.", "synonym": [], "xref": [], "is_a": [ "HP:0025615" ], "is_obsolete": "", "replace_id": "" }, "HP:0033588": { "name": [ "labial adhesion", "labial adhesion" ], "alt_id": [], "def": "Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline.", "synonym": [ [ "labial agglutination", "labial agglutination" ], [ "synechia vulvae", "synechia vulva" ] ], "xref": [], "is_a": [ "HP:0012881" ], "is_obsolete": "", "replace_id": "" }, "HP:0033589": { "name": [ "flatulence", "flatulence" ], "alt_id": [], "def": "Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating.", "synonym": [], "xref": [], "is_a": [ "HP:0011458" ], "is_obsolete": "", "replace_id": "" }, "HP:0033590": { "name": [ "inguinal abscess", "inguinal abscess" ], "alt_id": [], "def": "A circumscribed area of pus or necrotic debris in the groin (inguinal region).", "synonym": [ [ "groin abscess", "groin abscess" ] ], "xref": [], "is_a": [ "HP:0025615" ], "is_obsolete": "", "replace_id": "" }, "HP:0033591": { "name": [ "staghorn calculus", "staghorn calculus" ], "alt_id": [], "def": "Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system.", "synonym": [ [ "staghorn renal stone", "staghorn renal stone" ] ], "xref": [], "is_a": [ "HP:0000787" ], "is_obsolete": "", "replace_id": "" }, "HP:0033592": { "name": [ "anti - h3 - h4 antibody positivity", "anti - h3 - h4 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer.", "synonym": [], "xref": [], "is_a": [ "HP:0033558" ], "is_obsolete": "", "replace_id": "" }, "HP:0033593": { "name": [ "anti - h2a - h2b antibody positivity", "anti - h2a - h2b antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer.", "synonym": [], "xref": [], "is_a": [ "HP:0033558" ], "is_obsolete": "", "replace_id": "" }, "HP:0033594": { "name": [ "elevated urinary 7 - biopterin level", "elevate urinary 7 - biopterin level" ], "alt_id": [], "def": "An abnormally increased amount of 7-biopterin in the urine.", "synonym": [ [ "primapterinuria", "primapterinuria" ] ], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0033595": { "name": [ "elevated circulating globotriaosylceramide concentration", "elevate circulate globotriaosylceramide concentration" ], "alt_id": [], "def": "Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease.", "synonym": [ [ "elevated circulating ceramidetrihexoside concentration", "elevate circulate ceramidetrihexoside concentration" ] ], "xref": [], "is_a": [ "HP:0004343" ], "is_obsolete": "", "replace_id": "" }, "HP:0033596": { "name": [ "elevated urinary 3 - methylcrotonylglycine level", "elevate urinary 3 - methylcrotonylglycine level" ], "alt_id": [], "def": "An abnormally increased amount of 3-methylcrotonylglycine in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0040156" ], "is_obsolete": "", "replace_id": "" }, "HP:0033597": { "name": [ "decreased mucosal sucrase - isomaltase activity", "decrease mucosal sucrase - isomaltase activity" ], "alt_id": [], "def": "Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi.", "synonym": [], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0033598": { "name": [ "fibrillar glomerular subepithelial deposits", "fibrillar glomerular subepithelial deposit" ], "alt_id": [], "def": "Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).", "synonym": [], "xref": [], "is_a": [ "HP:0033603" ], "is_obsolete": "", "replace_id": "" }, "HP:0033599": { "name": [ "glomerular amyloid subepithelial deposits", "glomerular amyloid subepithelial deposit" ], "alt_id": [], "def": "A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).", "synonym": [], "xref": [], "is_a": [ "HP:0033598" ], "is_obsolete": "", "replace_id": "" }, "HP:0033600": { "name": [ "fibrillary glomerular subepithelial deposits", "fibrillary glomerular subepithelial deposit" ], "alt_id": [], "def": "A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).", "synonym": [], "xref": [], "is_a": [ "HP:0033598" ], "is_obsolete": "", "replace_id": "" }, "HP:0033601": { "name": [ "glomerular subepithelial immune - complex deposits", "glomerular subepithelial immune - complex deposit" ], "alt_id": [], "def": "A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).", "synonym": [], "xref": [], "is_a": [ "HP:0033603" ], "is_obsolete": "", "replace_id": "" }, "HP:0033602": { "name": [ "glomerular hyaline subepithelial deposits", "glomerular hyaline subepithelial deposit" ], "alt_id": [], "def": "A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).", "synonym": [], "xref": [], "is_a": [ "HP:0033603" ], "is_obsolete": "", "replace_id": "" }, "HP:0033603": { "name": [ "glomerular subepithelial deposits", "glomerular subepithelial deposit" ], "alt_id": [], "def": "Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).", "synonym": [], "xref": [], "is_a": [ "HP:0030949" ], "is_obsolete": "", "replace_id": "" }, "HP:0033604": { "name": [ "glomerular capillary wire loop deposits", "glomerular capillary wire loop deposit" ], "alt_id": [], "def": "Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop.", "synonym": [], "xref": [], "is_a": [ "HP:0030949" ], "is_obsolete": "", "replace_id": "" }, "HP:0033605": { "name": [ "pustular rash", "pustular rash" ], "alt_id": [], "def": "A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils.", "synonym": [ [ "pustulosis", "pustulosis" ] ], "xref": [], "is_a": [ "HP:0000988" ], "is_obsolete": "", "replace_id": "" }, "HP:0033606": { "name": [ "bone marrow maturation arrest", "bone marrow maturation arrest" ], "alt_id": [], "def": "Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow.", "synonym": [ [ "haematopoietic maturation arrest", "haematopoietic maturation arrest" ], [ "hematopoietic maturation arrest", "hematopoietic maturation arrest" ] ], "xref": [], "is_a": [ "HP:0005561" ], "is_obsolete": "", "replace_id": "" }, "HP:0033607": { "name": [ "bone marrow arrest at the promyelocytic stage", "bone marrow arrest at the promyelocytic stage" ], "alt_id": [], "def": "A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow.", "synonym": [], "xref": [], "is_a": [ "HP:0033606" ], "is_obsolete": "", "replace_id": "" }, "HP:0033608": { "name": [ "pulmonary nodule", "pulmonary nodule" ], "alt_id": [], "def": "Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging.", "synonym": [ [ "spot on the lung", "spot on the lung" ] ], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0033609": { "name": [ "solid pulmonary nodule", "solid pulmonary nodule" ], "alt_id": [], "def": "A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a \\\"solid\\", "synonym": [], "xref": [], "is_a": [ "HP:0033608" ], "is_obsolete": "", "replace_id": "" }, "HP:0033610": { "name": [ "subsolid pulmonary nodule", "subsolid pulmonary nodule" ], "alt_id": [], "def": "Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention.", "synonym": [], "xref": [], "is_a": [ "HP:0033608" ], "is_obsolete": "", "replace_id": "" }, "HP:0033611": { "name": [ "part - solid pulmonary nodule", "part - solid pulmonary nodule" ], "alt_id": [], "def": "Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized.", "synonym": [], "xref": [], "is_a": [ "HP:0033610" ], "is_obsolete": "", "replace_id": "" }, "HP:0033612": { "name": [ "pure ground - glass pulmonary nodule", "pure ground - glass pulmonary nodule" ], "alt_id": [], "def": "Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed.", "synonym": [], "xref": [], "is_a": [ "HP:0033610" ], "is_obsolete": "", "replace_id": "" }, "HP:0033613": { "name": [ "perifissural pulmonary nodule", "perifissural pulmonary nodule" ], "alt_id": [], "def": "Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes.", "synonym": [], "xref": [], "is_a": [ "HP:0033608" ], "is_obsolete": "", "replace_id": "" }, "HP:0033614": { "name": [ "tracheal bronchus", "tracheal bronchus" ], "alt_id": [], "def": "Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced.", "synonym": [], "xref": [], "is_a": [ "HP:0025426" ], "is_obsolete": "", "replace_id": "" }, "HP:0033615": { "name": [ "displaced tracheal bronchus", "displace tracheal bronchus" ], "alt_id": [], "def": "Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus.", "synonym": [], "xref": [], "is_a": [ "HP:0033614" ], "is_obsolete": "", "replace_id": "" }, "HP:0033616": { "name": [ "accessory cardiac bronchus", "accessory cardiac bronchus" ], "alt_id": [], "def": "Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended.", "synonym": [], "xref": [], "is_a": [ "HP:0025426" ], "is_obsolete": "", "replace_id": "" }, "HP:0033617": { "name": [ "supernumerary tracheal bronchus", "supernumerary tracheal bronchus" ], "alt_id": [], "def": "Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus.", "synonym": [], "xref": [], "is_a": [ "HP:0033614" ], "is_obsolete": "", "replace_id": "" }, "HP:0033618": { "name": [ "displaced lobar tracheal bronchus", "displace lobar tracheal bronchus" ], "alt_id": [], "def": "Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus.", "synonym": [ [ "bronchus suis", "bronchus suis" ], [ "pig bronchus", "pig bronchus" ] ], "xref": [], "is_a": [ "HP:0033614" ], "is_obsolete": "", "replace_id": "" }, "HP:0033619": { "name": [ "typical perifissural nodule", "typical perifissural nodule" ], "alt_id": [], "def": "A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical).", "synonym": [], "xref": [], "is_a": [ "HP:0033613" ], "is_obsolete": "", "replace_id": "" }, "HP:0033620": { "name": [ "atypical perifissural nodule", "atypical perifissural nodule" ], "alt_id": [], "def": "A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical).", "synonym": [], "xref": [], "is_a": [ "HP:0033613" ], "is_obsolete": "", "replace_id": "" }, "HP:0033621": { "name": [ "bronchial diverticula", "bronchial diverticulum" ], "alt_id": [], "def": "Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum.", "synonym": [], "xref": [], "is_a": [ "HP:0025426" ], "is_obsolete": "", "replace_id": "" }, "HP:0033622": { "name": [ "migratory erythematous plaque", "migratory erythematous plaque" ], "alt_id": [], "def": "A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin.", "synonym": [], "xref": [], "is_a": [ "HP:0010783" ], "is_obsolete": "", "replace_id": "" }, "HP:0033623": { "name": [ "birth history", "birth history" ], "alt_id": [], "def": "Information about the delivery and health status at birth typically elicited as a part of the past medical history.", "synonym": [], "xref": [], "is_a": [ "HP:0032443" ], "is_obsolete": "", "replace_id": "" }, "HP:0033624": { "name": [ "history of congenital cmv infection", "history of congenital cmv infection" ], "alt_id": [], "def": "A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits.", "synonym": [ [ "history of congenital cytomegalovirus infection", "history of congenital cytomegalovirus infection" ] ], "xref": [], "is_a": [ "HP:0033623" ], "is_obsolete": "", "replace_id": "" }, "HP:0033625": { "name": [ "emotional insecurity", "emotional insecurity" ], "alt_id": [], "def": "A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability which is perceived as threatening.", "synonym": [], "xref": [], "is_a": [ "HP:0100851" ], "is_obsolete": "", "replace_id": "" }, "HP:0033626": { "name": [ "increased non - hdl cholesterol concentration", "increase non - hdl cholesterol concentration" ], "alt_id": [], "def": "Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol).", "synonym": [ [ "elevated non - hdl cholesterol concentration", "elevate non - hdl cholesterol concentration" ] ], "xref": [], "is_a": [ "HP:0003107" ], "is_obsolete": "", "replace_id": "" }, "HP:0033627": { "name": [ "increased urine harderoporphyrin level", "increase urine harderoporphyrin level" ], "alt_id": [], "def": "Increased amount of harderoporphyrin in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0010473" ], "is_obsolete": "", "replace_id": "" }, "HP:0033628": { "name": [ "bowel irritability", "bowel irritability" ], "alt_id": [], "def": "Intermittent abdominal pain with diarrhea and/or constipation.", "synonym": [], "xref": [], "is_a": [ "HP:0011458" ], "is_obsolete": "", "replace_id": "" }, "HP:0033629": { "name": [ "igg4 autoimmune antibody positivity", "igg4 autoimmune antibody positivity" ], "alt_id": [], "def": "The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0033630": { "name": [ "brain fog", "brain fog" ], "alt_id": [], "def": "Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is \\\"cloudy\\\". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously.", "synonym": [ [ "mental clouding", "mental clouding" ], [ "mental fatigue", "mental fatigue" ], [ "mental fog", "mental fog" ] ], "xref": [], "is_a": [ "HP:0100543" ], "is_obsolete": "", "replace_id": "" }, "HP:0033631": { "name": [ "spondylitis", "spondylitis" ], "alt_id": [], "def": "Inflammation of the vertebrae (vertebral bodies) or spine.", "synonym": [], "xref": [], "is_a": [ "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0033632": { "name": [ "abnormal alveolar volume", "abnormal alveolar volume" ], "alt_id": [], "def": "Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas.", "synonym": [], "xref": [], "is_a": [ "HP:0030878" ], "is_obsolete": "", "replace_id": "" }, "HP:0033633": { "name": [ "decreased alveolar volume", "decreased alveolar volume" ], "alt_id": [], "def": "An abnormal reduction in alveolar volume.", "synonym": [], "xref": [], "is_a": [ "HP:0033632" ], "is_obsolete": "", "replace_id": "" }, "HP:0033634": { "name": [ "increased alveolar volume", "increase alveolar volume" ], "alt_id": [], "def": "An abnormal elevation in alveolar volume.", "synonym": [], "xref": [], "is_a": [ "HP:0033632" ], "is_obsolete": "", "replace_id": "" }, "HP:0033635": { "name": [ "post - capillary pulmonary hypertension", "post - capillary pulmonary hypertension" ], "alt_id": [], "def": "Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units).", "synonym": [ [ "postcapillary pulmonary hypertension", "postcapillary pulmonary hypertension" ] ], "xref": [], "is_a": [ "HP:0004890" ], "is_obsolete": "", "replace_id": "" }, "HP:0033636": { "name": [ "combined pre - and post - capillary pulmonary hypertension", "combine pre - and post - capillary pulmonary hypertension" ], "alt_id": [], "def": "Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units).", "synonym": [], "xref": [], "is_a": [ "HP:0004890" ], "is_obsolete": "", "replace_id": "" }, "HP:0033637": { "name": [ "anti - endomysial antibody positivity", "anti - endomysial antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2).", "synonym": [ [ "anti - transglutaminase 2 antibody positivity", "anti - transglutaminase 2 antibody positivity" ] ], "xref": [], "is_a": [ "HP:0033563" ], "is_obsolete": "", "replace_id": "" }, "HP:0033638": { "name": [ "intralobular septal thickening", "intralobular septal thickening" ], "alt_id": [], "def": "Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern.", "synonym": [ [ "intralobular lines", "intralobular line" ] ], "xref": [], "is_a": [ "HP:0033711" ], "is_obsolete": "", "replace_id": "" }, "HP:0033639": { "name": [ "septic pulmonary embolism", "septic pulmonary embolism" ], "alt_id": [], "def": "Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations.", "synonym": [ [ "septic pulmonary emboli", "septic pulmonary embolus" ] ], "xref": [], "is_a": [ "HP:0033553" ], "is_obsolete": "", "replace_id": "" }, "HP:0033640": { "name": [ "acetabular erosions", "acetabular erosion" ], "alt_id": [], "def": "Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint.", "synonym": [], "xref": [], "is_a": [ "HP:0003170" ], "is_obsolete": "", "replace_id": "" }, "HP:0033641": { "name": [ "aortic valve leaflet calcification", "aortic valve leaflet calcification" ], "alt_id": [], "def": "Deposition of calcium salts in the leaflets (cusps) of the aortic valve.", "synonym": [ [ "aortic cusp calcification", "aortic cusp calcification" ], [ "aortic valve cusp calcification", "aortic valve cusp calcification" ] ], "xref": [], "is_a": [ "HP:0004380" ], "is_obsolete": "", "replace_id": "" }, "HP:0033642": { "name": [ "mitral valve leaflet calcification", "mitral valve leaflet calcification" ], "alt_id": [], "def": "Deposition of calcium salts in the leaflets (cusps) of the mitral valve.", "synonym": [], "xref": [], "is_a": [ "HP:0004382" ], "is_obsolete": "", "replace_id": "" }, "HP:0033643": { "name": [ "increased circulating very long - chain fatty acid concentration", "increase circulate very long - chain fatty acid concentration" ], "alt_id": [], "def": "Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons.", "synonym": [ [ "increased plasma levels of very long - chain fatty acid", "increase plasma level of very long - chain fatty acid" ] ], "xref": [], "is_a": [ "HP:0004359" ], "is_obsolete": "", "replace_id": "" }, "HP:0033644": { "name": [ "elevated circulating erythropoietin concentration", "elevate circulate erythropoietin concentration" ], "alt_id": [], "def": "Increased amount of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.", "synonym": [ [ "elevated circulating erythropoietin", "elevate circulating erythropoietin" ] ], "xref": [], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0033645": { "name": [ "midline brainstem cleft", "midline brainstem cleft" ], "alt_id": [], "def": "A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons.", "synonym": [], "xref": [], "is_a": [ "HP:0002363" ], "is_obsolete": "", "replace_id": "" }, "HP:0033646": { "name": [ "absent hippocampal commissure", "absent hippocampal commissure" ], "alt_id": [], "def": "Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum.", "synonym": [ [ "agenesis of the hippocampal commissure", "agenesis of the hippocampal commissure" ] ], "xref": [], "is_a": [ "HP:0025100" ], "is_obsolete": "", "replace_id": "" }, "HP:0033647": { "name": [ "silhouette sign", "silhouette sign" ], "alt_id": [], "def": "The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette.", "synonym": [], "xref": [], "is_a": [ "HP:0033775" ], "is_obsolete": "", "replace_id": "" }, "HP:0033648": { "name": [ "pulmonary pseudocavity", "pulmonary pseudocavity" ], "alt_id": [], "def": "A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia.", "synonym": [], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0033649": { "name": [ "paraseptal emphysema", "paraseptal emphysema" ], "alt_id": [], "def": "Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae.", "synonym": [ [ "distal acinar emphysema", "distal acinar emphysema" ] ], "xref": [], "is_a": [ "HP:0002097" ], "is_obsolete": "", "replace_id": "" }, "HP:0033650": { "name": [ "pulmonary parenchymal band", "pulmonary parenchymal band" ], "alt_id": [], "def": "A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura\\n(which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos.", "synonym": [], "xref": [], "is_a": [ "HP:0031457" ], "is_obsolete": "", "replace_id": "" }, "HP:0033651": { "name": [ "pulmonary mycetoma", "pulmonary mycetoma" ], "alt_id": [], "def": "A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma.", "synonym": [ [ "lung fungus ball", "lung fungus ball" ] ], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0033652": { "name": [ "broncholith", "broncholith" ], "alt_id": [], "def": "A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis", "synonym": [], "xref": [], "is_a": [ "HP:0025426", "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0033653": { "name": [ "bronchocele", "bronchocele" ], "alt_id": [], "def": "A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion.", "synonym": [], "xref": [], "is_a": [ "HP:0025426", "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0033654": { "name": [ "beaded septum sign", "bead septum sign" ], "alt_id": [], "def": "Irregular and nodular thickening of interlobular septa reminiscent of a row of beads.", "synonym": [], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0033655": { "name": [ "pulmonary cavity", "pulmonary cavity" ], "alt_id": [], "def": "A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick.", "synonym": [ [ "pulmonary cavern", "pulmonary cavern" ] ], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0033656": { "name": [ "juxtaphrenic peak", "juxtaphrenic peak" ], "alt_id": [], "def": "A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament.", "synonym": [], "xref": [], "is_a": [ "HP:0031457" ], "is_obsolete": "", "replace_id": "" }, "HP:0033657": { "name": [ "linear atelectasis", "linear atelectasis" ], "alt_id": [], "def": "Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm.", "synonym": [ [ "discoid atelectasis", "discoid atelectasis" ], [ "platelike atelectasis", "platelike atelectasis" ] ], "xref": [], "is_a": [ "HP:0100750" ], "is_obsolete": "", "replace_id": "" }, "HP:0033658": { "name": [ "rounded atelectasis", "round atelectasis" ], "alt_id": [], "def": "Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung.", "synonym": [ [ "blesovsky syndrome", "blesovsky syndrome" ], [ "comet tail sign", "comet tail sign" ], [ "folded lung syndrome", "fold lung syndrome" ], [ "helical atelectasis", "helical atelectasis" ], [ "pleural pseudotumor", "pleural pseudotumor" ], [ "pleuroma", "pleuroma" ] ], "xref": [], "is_a": [ "HP:0100750" ], "is_obsolete": "", "replace_id": "" }, "HP:0033659": { "name": [ "crazy - paving pattern", "crazy - paving pattern" ], "alt_id": [], "def": "This pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia.", "synonym": [], "xref": [], "is_a": [ "HP:0033775" ], "is_obsolete": "", "replace_id": "" }, "HP:0033660": { "name": [ "hand paresthesia", "hand paresthesia" ], "alt_id": [], "def": "Tingling (often refered to as a pins and needles feeling) and numbness in the hand.", "synonym": [ [ "hand tingling", "hand tingle" ] ], "xref": [], "is_a": [ "HP:0031006" ], "is_obsolete": "", "replace_id": "" }, "HP:0033661": { "name": [ "air crescent", "air crescent" ], "alt_id": [], "def": "An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer.", "synonym": [], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0033662": { "name": [ "air bronchogram", "air bronchogram" ], "alt_id": [], "def": "An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma).", "synonym": [], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0033663": { "name": [ "air trapping", "air trap" ], "alt_id": [], "def": "Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse.", "synonym": [], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0033664": { "name": [ "ganglioglioma", "ganglioglioma" ], "alt_id": [], "def": "Gangliogliomas are rare tumours of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumours consisting of both dysplastic neuronal and neoplastic glial cells.", "synonym": [], "xref": [ "NCIT:C3788" ], "is_a": [ "HP:0025170" ], "is_obsolete": "", "replace_id": "" }, "HP:0033665": { "name": [ "diminished health - related quality of life", "diminish health - related quality of life" ], "alt_id": [], "def": "A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles.", "synonym": [], "xref": [], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0033666": { "name": [ "diminished physical functioning", "diminished physical functioning" ], "alt_id": [], "def": "A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning.", "synonym": [ [ "decline in physical functional health", "decline in physical functional health" ], [ "diminished physical health", "diminished physical health" ] ], "xref": [], "is_a": [ "HP:0033665" ], "is_obsolete": "", "replace_id": "" }, "HP:0033667": { "name": [ "diminished mental health", "diminish mental health" ], "alt_id": [], "def": "A reduction in the subjective feeling of mental well being.", "synonym": [ [ "mental impairment", "mental impairment" ], [ "reduced mental health", "reduce mental health" ] ], "xref": [], "is_a": [ "HP:0033665" ], "is_obsolete": "", "replace_id": "" }, "HP:0033668": { "name": [ "abnormal amygdala morphology", "abnormal amygdala morphology" ], "alt_id": [], "def": "A structural anomaly of the amygdala.", "synonym": [ [ "abnormal morphology of the amygdala", "abnormal morphology of the amygdala" ] ], "xref": [], "is_a": [ "HP:0007343" ], "is_obsolete": "", "replace_id": "" }, "HP:0033669": { "name": [ "enlarged amygdala", "enlarge amygdala" ], "alt_id": [], "def": "A increase in the volume (size) of the amygdyla.", "synonym": [ [ "amygdalar enlargement", "amygdalar enlargement" ] ], "xref": [], "is_a": [ "HP:0033668" ], "is_obsolete": "", "replace_id": "" }, "HP:0033670": { "name": [ "organizing pneumonia", "organize pneumonia" ], "alt_id": [], "def": "Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities.", "synonym": [], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0033671": { "name": [ "pulmonary oligemia", "pulmonary oligemia" ], "alt_id": [], "def": "Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow.", "synonym": [], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0033672": { "name": [ "positive carpal tinel sign", "positive carpal tinel sign" ], "alt_id": [], "def": "The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve.", "synonym": [ [ "positive carpal hoffmann tinel sign", "positive carpal hoffmann tinel sign" ] ], "xref": [], "is_a": [ "HP:0032120" ], "is_obsolete": "", "replace_id": "" }, "HP:0033673": { "name": [ "positive phalen test", "positive phalen test" ], "alt_id": [], "def": "The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger).", "synonym": [ [ "phalen maneuver", "phalen maneuver" ], [ "phalen manoeuvre", "phalen manoeuvre" ] ], "xref": [], "is_a": [ "HP:0032120" ], "is_obsolete": "", "replace_id": "" }, "HP:0033674": { "name": [ "pulmonary blood flow redistribution", "pulmonary blood flow redistribution" ], "alt_id": [], "def": "Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung.", "synonym": [], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0033675": { "name": [ "frailty", "frailty" ], "alt_id": [], "def": "A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised.", "synonym": [], "xref": [], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0033676": { "name": [ "posttraumatic stress symptom", "posttraumatic stress symptom" ], "alt_id": [], "def": "A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating).", "synonym": [], "xref": [], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0033677": { "name": [ "acute respiratory distress syndrome", "acute respiratory distress syndrome" ], "alt_id": [], "def": "Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300.", "synonym": [], "xref": [], "is_a": [ "HP:0004887" ], "is_obsolete": "", "replace_id": "" }, "HP:0033678": { "name": [ "acute coronary syndrome", "acute coronary syndrome" ], "alt_id": [], "def": "The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI).", "synonym": [], "xref": [], "is_a": [ "HP:0011025" ], "is_obsolete": "", "replace_id": "" }, "HP:0033679": { "name": [ "abnormal red nucleus morphology", "abnormal red nucleus morphology" ], "alt_id": [], "def": "Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement.", "synonym": [], "xref": [], "is_a": [ "HP:0002418" ], "is_obsolete": "", "replace_id": "" }, "HP:0033680": { "name": [ "pilocytic astrocytoma", "pilocytic astrocytoma" ], "alt_id": [], "def": "The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities.", "synonym": [], "xref": [ "NCIT:C4047" ], "is_a": [ "HP:0009592" ], "is_obsolete": "", "replace_id": "" }, "HP:0033681": { "name": [ "oligodendroglioma", "oligodendroglioma" ], "alt_id": [], "def": "Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG.", "synonym": [], "xref": [ "NCIT:C3288" ], "is_a": [ "HP:0009733" ], "is_obsolete": "", "replace_id": "" }, "HP:0033682": { "name": [ "pleomorphic xanthoastrocytoma", "pleomorphic xanthoastrocytoma" ], "alt_id": [], "def": "Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth.", "synonym": [], "xref": [], "is_a": [ "HP:0009592" ], "is_obsolete": "", "replace_id": "" }, "HP:0033683": { "name": [ "jaw hyperreflexia", "jaw hyperreflexia" ], "alt_id": [], "def": "Increased intensity of muscle tendon reflexes in jaw.", "synonym": [ [ "brisk jaw jerk", "brisk jaw jerk" ] ], "xref": [], "is_a": [ "HP:0001347" ], "is_obsolete": "", "replace_id": "" }, "HP:0033684": { "name": [ "abnormal muscle fiber - type distribution", "abnormal muscle fiber - type distribution" ], "alt_id": [], "def": "Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types", "synonym": [], "xref": [], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0033685": { "name": [ "fiber type grouping", "fiber type grouping" ], "alt_id": [], "def": "An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type.", "synonym": [ [ "fibre type grouping", "fibre type grouping" ] ], "xref": [], "is_a": [ "HP:0033684" ], "is_obsolete": "", "replace_id": "" }, "HP:0033686": { "name": [ "mitochondrial hypertrophy", "mitochondrial hypertrophy" ], "alt_id": [], "def": "Enlargment of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM.", "synonym": [ [ "megamitochondria", "megamitochondria" ] ], "xref": [], "is_a": [ "HP:0012087" ], "is_obsolete": "", "replace_id": "" }, "HP:0033687": { "name": [ "short term memory impairment", "short term memory impairment" ], "alt_id": [], "def": "A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds).", "synonym": [ [ "short term memory loss", "short term memory loss" ] ], "xref": [], "is_a": [ "HP:0002354" ], "is_obsolete": "", "replace_id": "" }, "HP:0033688": { "name": [ "long term memory impairment", "long term memory impairment" ], "alt_id": [], "def": "A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that).", "synonym": [ [ "long term memory loss", "long term memory loss" ] ], "xref": [], "is_a": [ "HP:0002354" ], "is_obsolete": "", "replace_id": "" }, "HP:0033689": { "name": [ "anterograde memory impairment", "anterograde memory impairment" ], "alt_id": [], "def": "The impaired ability to establish new long-term memories.", "synonym": [ [ "anterograde amnesia", "anterograde amnesia" ] ], "xref": [], "is_a": [ "HP:0033688" ], "is_obsolete": "", "replace_id": "" }, "HP:0033690": { "name": [ "retrograde memory impairment", "retrograde memory impairment" ], "alt_id": [], "def": "Inability to retrieve information from the long-term memory that was acquired before the onset of amnesia.", "synonym": [ [ "retrograde amnesia", "retrograde amnesia" ] ], "xref": [], "is_a": [ "HP:0033688" ], "is_obsolete": "", "replace_id": "" }, "HP:0033691": { "name": [ "procedural memory loss", "procedural memory loss" ], "alt_id": [], "def": "A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument.", "synonym": [ [ "impaired procedural memory", "impaired procedural memory" ], [ "procedural memory deficit", "procedural memory deficit" ] ], "xref": [], "is_a": [ "HP:0033690" ], "is_obsolete": "", "replace_id": "" }, "HP:0033692": { "name": [ "declarative memory loss", "declarative memory loss" ], "alt_id": [], "def": "Impaired ability to remember facts and events.", "synonym": [ [ "impaired declarative memory", "impaired declarative memory" ] ], "xref": [], "is_a": [ "HP:0033690" ], "is_obsolete": "", "replace_id": "" }, "HP:0033693": { "name": [ "phantosmia", "phantosmia" ], "alt_id": [], "def": "Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor.", "synonym": [ [ "olfactory hallucination", "olfactory hallucination" ], [ "phantom odor", "phantom odor" ], [ "phantom odour", "phantom odour" ], [ "phantom smell", "phantom smell" ] ], "xref": [], "is_a": [ "HP:0004408" ], "is_obsolete": "", "replace_id": "" }, "HP:0033694": { "name": [ "tactile hallucination", "tactile hallucination" ], "alt_id": [], "def": "The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object.", "synonym": [ [ "tactile hallucinations", "tactile hallucination" ] ], "xref": [], "is_a": [ "HP:0000738" ], "is_obsolete": "", "replace_id": "" }, "HP:0033695": { "name": [ "occupational disability", "occupational disability" ], "alt_id": [], "def": "This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities.", "synonym": [], "xref": [], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0033696": { "name": [ "pseudo - chilblain", "pseudo - chilblain" ], "alt_id": [], "def": "Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet.", "synonym": [ [ "chilblain - like lesion", "chilblain - like lesion" ] ], "xref": [], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0033697": { "name": [ "vesicular eruption", "vesicular eruption" ], "alt_id": [], "def": "A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic.", "synonym": [], "xref": [], "is_a": [ "HP:0000988" ], "is_obsolete": "", "replace_id": "" }, "HP:0033698": { "name": [ "monomorphic vesicular eruption", "monomorphic vesicular eruption" ], "alt_id": [], "def": "A type of vesicular eruption in which the vesicles are at same stages.", "synonym": [], "xref": [], "is_a": [ "HP:0033697" ], "is_obsolete": "", "replace_id": "" }, "HP:0033699": { "name": [ "polymorphic vesicular eruption", "polymorphic vesicular eruption" ], "alt_id": [], "def": "A type of vesicular eruption in which the vesicles are at different stages.", "synonym": [], "xref": [], "is_a": [ "HP:0033697" ], "is_obsolete": "", "replace_id": "" }, "HP:0033700": { "name": [ "papulovesicular eruption", "papulovesicular eruption" ], "alt_id": [], "def": "An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point.", "synonym": [ [ "papulo - vesicular eruption", "papulo - vesicular eruption" ] ], "xref": [], "is_a": [ "HP:0000988" ], "is_obsolete": "", "replace_id": "" }, "HP:0033701": { "name": [ "cortical sclerosis of the iliac wing", "cortical sclerosis of the iliac wing" ], "alt_id": [], "def": "Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing.", "synonym": [], "xref": [], "is_a": [ "HP:0011867" ], "is_obsolete": "", "replace_id": "" }, "HP:0033702": { "name": [ "subpleural curvilinear line", "subpleural curvilinear line" ], "alt_id": [], "def": "This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present).", "synonym": [], "xref": [], "is_a": [ "HP:0031457", "HP:0031630" ], "is_obsolete": "", "replace_id": "" }, "HP:0033703": { "name": [ "dysembryoplastic neuroepithelial tumor", "dysembryoplastic neuroepithelial tumor" ], "alt_id": [], "def": "Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found", "synonym": [], "xref": [], "is_a": [ "HP:0025170" ], "is_obsolete": "", "replace_id": "" }, "HP:0033704": { "name": [ "elevated urinary homogentisic acid", "elevate urinary homogentisic acid" ], "alt_id": [], "def": "An increased amount of homogentisic acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033303" ], "is_obsolete": "", "replace_id": "" }, "HP:0033705": { "name": [ "tearfulness", "tearfulness" ], "alt_id": [], "def": "A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control.", "synonym": [], "xref": [], "is_a": [ "HP:0100851" ], "is_obsolete": "", "replace_id": "" }, "HP:0033706": { "name": [ "progressive massive fibrosis", "progressive massive fibrosis" ], "alt_id": [], "def": "This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in\\nthe upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis.", "synonym": [], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0033707": { "name": [ "perioral hyperkeratosis", "perioral hyperkeratosis" ], "alt_id": [], "def": "Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth.", "synonym": [], "xref": [], "is_a": [ "HP:0000962" ], "is_obsolete": "", "replace_id": "" }, "HP:0033708": { "name": [ "anti - 3 - hydroxy - 3 - methylglutaryl - coa reductase antibody positivity", "anti - 3 - hydroxy - 3 - methylglutaryl - coa reductase antibody positivity" ], "alt_id": [], "def": "", "synonym": [ [ "anti - 3 - hydroxy - 3 - methylglutaryl - coa reductase antibodies", "anti - 3 - hydroxy - 3 - methylglutaryl - coa reductase antibody" ], [ "anti - hmgcr autoantibodies", "anti - hmgcr autoantibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0033709": { "name": [ "increased sputum production", "increase sputum production" ], "alt_id": [], "def": "An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway).", "synonym": [ [ "increased phlegm", "increase phlegm" ] ], "xref": [], "is_a": [ "HP:0032016" ], "is_obsolete": "", "replace_id": "" }, "HP:0033710": { "name": [ "rest dyspnea", "rest dyspnea" ], "alt_id": [], "def": "A perception of shortness of breath that occurs independently of exertion.", "synonym": [ [ "breathlessness at rest", "breathlessness at rest" ], [ "dyspnea at rest", "dyspnea at rest" ], [ "dyspnoea at rest", "dyspnoea at rest" ], [ "shortness of breath at rest", "shortness of breath at rest" ] ], "xref": [], "is_a": [ "HP:0002094" ], "is_obsolete": "", "replace_id": "" }, "HP:0033711": { "name": [ "pulmonary interstitial thickening", "pulmonary interstitial thickening" ], "alt_id": [], "def": "Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening.", "synonym": [], "xref": [], "is_a": [ "HP:0025389" ], "is_obsolete": "", "replace_id": "" }, "HP:0033712": { "name": [ "repeated implantation failure", "repeat implantation failure" ], "alt_id": [], "def": "Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles.", "synonym": [ [ "recurrent implantation failure", "recurrent implantation failure" ] ], "xref": [], "is_a": [ "HP:0033335" ], "is_obsolete": "", "replace_id": "" }, "HP:0033713": { "name": [ "anti - signal recognition particle antibody positivity", "anti - signal recognition particle antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0033714": { "name": [ "multiple meningiomata", "multiple meningiomata" ], "alt_id": [], "def": "The occurrence of multiple distinct meningiomas in the same individual.", "synonym": [ [ "multifocal meningiomata", "multifocal meningiomata" ], [ "multiple meningiomata", "multiple meningiomata" ] ], "xref": [], "is_a": [ "HP:0002858" ], "is_obsolete": "", "replace_id": "" }, "HP:0033715": { "name": [ "hippocampal sclerosis", "hippocampal sclerosis" ], "alt_id": [], "def": "Atrophy with gliosis of the hippocampus with loss of neurons and the normal cortical architecture.", "synonym": [ [ "mesial temporal sclerosis", "mesial temporal sclerosis" ] ], "xref": [], "is_a": [ "HP:0002171", "HP:0410170" ], "is_obsolete": "", "replace_id": "" }, "HP:0033716": { "name": [ "eeg with frontal epileptiform discharges", "eeg with frontal epileptiform discharge" ], "alt_id": [], "def": "Focal epileptiform EEG discharges recorded in the frontal region.", "synonym": [], "xref": [], "is_a": [ "HP:0011185" ], "is_obsolete": "", "replace_id": "" }, "HP:0033717": { "name": [ "eeg with temporal epileptiform discharges", "eeg with temporal epileptiform discharge" ], "alt_id": [], "def": "Focal epileptiform EEG discharges recorded in the temporal region.", "synonym": [], "xref": [], "is_a": [ "HP:0011185" ], "is_obsolete": "", "replace_id": "" }, "HP:0033718": { "name": [ "eeg with central epileptiform discharges", "eeg with central epileptiform discharge" ], "alt_id": [], "def": "Focal epileptiform EEG discharges recorded in the central region.", "synonym": [], "xref": [], "is_a": [ "HP:0011185" ], "is_obsolete": "", "replace_id": "" }, "HP:0033719": { "name": [ "eeg with parietal epileptiform discharges", "eeg with parietal epileptiform discharge" ], "alt_id": [], "def": "Focal epileptiform EEG discharges recorded in the parietal region.", "synonym": [], "xref": [], "is_a": [ "HP:0011185" ], "is_obsolete": "", "replace_id": "" }, "HP:0033720": { "name": [ "eeg with occipital epileptiform discharges", "eeg with occipital epileptiform discharge" ], "alt_id": [], "def": "Focal epileptiform EEG discharges recorded in the occipital region.", "synonym": [], "xref": [], "is_a": [ "HP:0011185" ], "is_obsolete": "", "replace_id": "" }, "HP:0033721": { "name": [ "eeg with centrotemporal epileptiform discharges", "eeg with centrotemporal epileptiform discharge" ], "alt_id": [], "def": "Focal epileptiform EEG discharges recorded in the centrotemporal region.", "synonym": [], "xref": [], "is_a": [ "HP:0011185" ], "is_obsolete": "", "replace_id": "" }, "HP:0033722": { "name": [ "autonomic epileptic aura", "autonomic epileptic aura" ], "alt_id": [], "def": "An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region.", "synonym": [ [ "autonomic aura", "autonomic aura" ], [ "autonomic auras", "autonomic aura" ], [ "vegetative aura", "vegetative aura" ] ], "xref": [], "is_a": [ "HP:0011154", "HP:0033348" ], "is_obsolete": "", "replace_id": "" }, "HP:0033723": { "name": [ "abnormal cerebral venous sinus morphology", "abnormal cerebral venous sinus morphology" ], "alt_id": [], "def": "Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins.", "synonym": [ [ "abnormal dural venous sinus morphology", "abnormal dural venous sinus morphology" ], [ "abnormality of the cerebral venous sinuses", "abnormality of the cerebral venous sinus" ] ], "xref": [], "is_a": [ "HP:0012480" ], "is_obsolete": "", "replace_id": "" }, "HP:0033724": { "name": [ "central venous sinus thrombosis", "central venous sinus thrombosis" ], "alt_id": [], "def": "An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses.", "synonym": [], "xref": [], "is_a": [ "HP:0004936", "HP:0033723" ], "is_obsolete": "", "replace_id": "" }, "HP:0033725": { "name": [ "thin corpus callosum", "thin corpus callosum" ], "alt_id": [], "def": "An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).", "synonym": [ [ "small corpus callosum", "small corpus callosum" ], [ "thinning of the corpus callosum", "thinning of the corpus callosum" ] ], "xref": [], "is_a": [ "HP:0001273" ], "is_obsolete": "", "replace_id": "" }, "HP:0033726": { "name": [ "lupus nephritis", "lupus nephritis" ], "alt_id": [], "def": "Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management.", "synonym": [], "xref": [], "is_a": [ "HP:0000099" ], "is_obsolete": "", "replace_id": "" }, "HP:0033727": { "name": [ "diffuse lupus nephritis", "diffuse lupus nephritis" ], "alt_id": [], "def": "A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations.", "synonym": [ [ "class iv lupus nephritis", "class iv lupus nephritis" ] ], "xref": [], "is_a": [ "HP:0033726" ], "is_obsolete": "", "replace_id": "" }, "HP:0033728": { "name": [ "mesangial proliferative lupus nephritis", "mesangial proliferative lupus nephritis" ], "alt_id": [], "def": "A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy.", "synonym": [ [ "class ii lupus nephritis", "class ii lupus nephritis" ] ], "xref": [], "is_a": [ "HP:0033726" ], "is_obsolete": "", "replace_id": "" }, "HP:0033729": { "name": [ "minimal mesangial lupus nephritis", "minimal mesangial lupus nephritis" ], "alt_id": [], "def": "A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence.", "synonym": [ [ "class i lupus nephritis", "class i lupus nephritis" ] ], "xref": [], "is_a": [ "HP:0033726" ], "is_obsolete": "", "replace_id": "" }, "HP:0033730": { "name": [ "membranous lupus nephritis", "membranous lupus nephritis" ], "alt_id": [], "def": "A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis", "synonym": [ [ "class v lupus nephritis", "class v lupus nephritis" ] ], "xref": [], "is_a": [ "HP:0033726" ], "is_obsolete": "", "replace_id": "" }, "HP:0033731": { "name": [ "focal lupus nephritis", "focal lupus nephritis" ], "alt_id": [], "def": "A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations", "synonym": [ [ "class iii lupus nephritis", "class iii lupus nephritis" ] ], "xref": [], "is_a": [ "HP:0033726" ], "is_obsolete": "", "replace_id": "" }, "HP:0033732": { "name": [ "advanced sclerotic lupus nephritis", "advanced sclerotic lupus nephritis" ], "alt_id": [], "def": "A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity.", "synonym": [ [ "class vi lupus nephritis", "class vi lupus nephritis" ] ], "xref": [], "is_a": [ "HP:0033726" ], "is_obsolete": "", "replace_id": "" }, "HP:0033733": { "name": [ "low - grade vesicoureteral reflux", "low - grade vesicoureteral reflux" ], "alt_id": [], "def": "Vesicoureteral reflux without dilation of the renal calyces (Grade I-II).", "synonym": [], "xref": [], "is_a": [ "HP:0000076" ], "is_obsolete": "", "replace_id": "" }, "HP:0033734": { "name": [ "high - grade vesicoureteral reflux", "high - grade vesicoureteral reflux" ], "alt_id": [], "def": "Vesicoureteral reflux with dilation of the renal calyces (Grade III - V).", "synonym": [], "xref": [], "is_a": [ "HP:0000076" ], "is_obsolete": "", "replace_id": "" }, "HP:0033735": { "name": [ "grade i vesicoureteral reflux", "grade i vesicoureteral reflux" ], "alt_id": [], "def": "Vesicoureteral reflux into the ureter only.", "synonym": [ [ "grade i vur", "grade i vur" ] ], "xref": [], "is_a": [ "HP:0033733" ], "is_obsolete": "", "replace_id": "" }, "HP:0033736": { "name": [ "grade ii vesicoureteral reflux", "grade ii vesicoureteral reflux" ], "alt_id": [], "def": "Vesicoureteral reflux into a non-dilated pyelocalyceal system.", "synonym": [ [ "grade ii vur", "grade ii vur" ] ], "xref": [], "is_a": [ "HP:0033733" ], "is_obsolete": "", "replace_id": "" }, "HP:0033737": { "name": [ "grade iii vesicoureteral reflux", "grade iii vesicoureteral reflux" ], "alt_id": [], "def": "Vesicoureteral reflux with dilatation of the collecting system.", "synonym": [ [ "grade iii vur", "grade iii vur" ] ], "xref": [], "is_a": [ "HP:0033734" ], "is_obsolete": "", "replace_id": "" }, "HP:0033738": { "name": [ "primary vesicoureteral reflux", "primary vesicoureteral reflux" ], "alt_id": [], "def": "Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction.", "synonym": [], "xref": [], "is_a": [ "HP:0000076" ], "is_obsolete": "", "replace_id": "" }, "HP:0033739": { "name": [ "secondary vesicoureteral reflux", "secondary vesicoureteral reflux" ], "alt_id": [], "def": "Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction.", "synonym": [], "xref": [], "is_a": [ "HP:0000076" ], "is_obsolete": "", "replace_id": "" }, "HP:0033740": { "name": [ "grade v vesicoureteral reflux", "grade v vesicoureteral reflux" ], "alt_id": [], "def": "Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter.", "synonym": [ [ "grade v vur", "grade v vur" ] ], "xref": [], "is_a": [ "HP:0033734" ], "is_obsolete": "", "replace_id": "" }, "HP:0033741": { "name": [ "grade iv vesicoureteral reflux", "grade iv vesicoureteral reflux" ], "alt_id": [], "def": "Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter.", "synonym": [ [ "grade iv vur", "grade iv vur" ] ], "xref": [], "is_a": [ "HP:0033734" ], "is_obsolete": "", "replace_id": "" }, "HP:0033742": { "name": [ "intrarenal reflux", "intrarenal reflux" ], "alt_id": [], "def": "Severe vesicoureteral reflux reaching the kidney parenchyma.", "synonym": [], "xref": [], "is_a": [ "HP:0033734" ], "is_obsolete": "", "replace_id": "" }, "HP:0033743": { "name": [ "macular agenesis", "macular agenesis" ], "alt_id": [], "def": "A congenital defect characterized by lack of development of the macula.", "synonym": [], "xref": [], "is_a": [ "HP:0008059" ], "is_obsolete": "", "replace_id": "" }, "HP:0033744": { "name": [ "global cerebellar dysplasia", "global cerebellar dysplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0007033" ], "is_obsolete": "", "replace_id": "" }, "HP:0033745": { "name": [ "dysplasia of the superior cerebellar vermis", "dysplasia of the superior cerebellar vermis" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0002334", "HP:0007033" ], "is_obsolete": "", "replace_id": "" }, "HP:0033746": { "name": [ "intrascapular pain", "intrascapular pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades.", "synonym": [ [ "pain between shoulder blades", "pain between shoulder blade" ] ], "xref": [], "is_a": [ "HP:0003418" ], "is_obsolete": "", "replace_id": "" }, "HP:0033747": { "name": [ "abnormal exteroceptive sensation", "abnormal exteroceptive sensation" ], "alt_id": [], "def": "A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.", "synonym": [], "xref": [], "is_a": [ "HP:0003474" ], "is_obsolete": "", "replace_id": "" }, "HP:0033748": { "name": [ "hypoesthesia", "hypoesthesia" ], "alt_id": [], "def": "Decreased ability to perceive touch.", "synonym": [ [ "hypoaesthesia", "hypoaesthesia" ], [ "numbness", "numbness" ] ], "xref": [], "is_a": [ "HP:0033747" ], "is_obsolete": "", "replace_id": "" }, "HP:0033749": { "name": [ "abnormal functional residual capacity", "abnormal functional residual capacity" ], "alt_id": [], "def": "A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation.", "synonym": [], "xref": [], "is_a": [ "HP:0030878" ], "is_obsolete": "", "replace_id": "" }, "HP:0033750": { "name": [ "reduced functional residual capacity", "reduce functional residual capacity" ], "alt_id": [], "def": "An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation.", "synonym": [], "xref": [], "is_a": [ "HP:0033749" ], "is_obsolete": "", "replace_id": "" }, "HP:0033751": { "name": [ "elevated functional residual capacity", "elevate functional residual capacity" ], "alt_id": [], "def": "An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation.", "synonym": [], "xref": [], "is_a": [ "HP:0033749" ], "is_obsolete": "", "replace_id": "" }, "HP:0033752": { "name": [ "abnormal residual volume", "abnormal residual volume" ], "alt_id": [], "def": "Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs).", "synonym": [], "xref": [], "is_a": [ "HP:0030878" ], "is_obsolete": "", "replace_id": "" }, "HP:0033753": { "name": [ "reduced residual volume", "reduce residual volume" ], "alt_id": [], "def": "Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation.", "synonym": [], "xref": [], "is_a": [ "HP:0033752" ], "is_obsolete": "", "replace_id": "" }, "HP:0033754": { "name": [ "abnormal left ventricular end - diastolic volume", "abnormal leave ventricular end - diastolic volume" ], "alt_id": [], "def": "Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole).", "synonym": [], "xref": [], "is_a": [ "HP:0005162" ], "is_obsolete": "", "replace_id": "" }, "HP:0033755": { "name": [ "increased left ventricular end - diastolic volume", "increase leave ventricular end - diastolic volume" ], "alt_id": [], "def": "Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).", "synonym": [], "xref": [], "is_a": [ "HP:0033754" ], "is_obsolete": "", "replace_id": "" }, "HP:0033756": { "name": [ "decreased left ventricular end - diastolic volume", "decrease leave ventricular end - diastolic volume" ], "alt_id": [], "def": "Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole).", "synonym": [], "xref": [], "is_a": [ "HP:0033754" ], "is_obsolete": "", "replace_id": "" }, "HP:0033757": { "name": [ "pancreatic steatosis", "pancreatic steatosis" ], "alt_id": [], "def": "Fat infiltration in the pancreas.", "synonym": [ [ "fatty pancreas", "fatty pancreas" ], [ "non - alcoholic fatty pancreatic disease", "non - alcoholic fatty pancreatic disease" ], [ "pancreatic fatty infiltration", "pancreatic fatty infiltration" ], [ "pancreatic fatty replacement", "pancreatic fatty replacement" ], [ "pancreatic lipomatosis", "pancreatic lipomatosis" ], [ "pancreatic lipomatous pseudohypertrophy", "pancreatic lipomatous pseudohypertrophy" ] ], "xref": [], "is_a": [ "HP:0012090" ], "is_obsolete": "", "replace_id": "" }, "HP:0033758": { "name": [ "labial abscess", "labial abscess" ], "alt_id": [], "def": "A circumscribed area of pus or necrotic debris in the labia.", "synonym": [ [ "abscess of the labia", "abscess of the labium" ] ], "xref": [], "is_a": [ "HP:0033587" ], "is_obsolete": "", "replace_id": "" }, "HP:0033759": { "name": [ "impaired renal tubular reabsorption of magnesium", "impaired renal tubular reabsorption of magnesium" ], "alt_id": [], "def": "Decreased renal tubular reabsorption of magnesium.", "synonym": [], "xref": [], "is_a": [ "HP:0011038" ], "is_obsolete": "", "replace_id": "" }, "HP:0033760": { "name": [ "decreased maximal oxygen uptake", "decrease maximal oxygen uptake" ], "alt_id": [], "def": "Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload.", "synonym": [], "xref": [], "is_a": [ "HP:0030878" ], "is_obsolete": "", "replace_id": "" }, "HP:0033761": { "name": [ "xanthogranulomatous pyelonephritis", "xanthogranulomatous pyelonephritis" ], "alt_id": [], "def": "Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells.", "synonym": [], "xref": [], "is_a": [ "HP:0012330" ], "is_obsolete": "", "replace_id": "" }, "HP:0033762": { "name": [ "middle cerebral artery stroke", "middle cerebral artery stroke" ], "alt_id": [], "def": "Acute onset neurological deficits such as weakness, dizziness, numbness, issues with speech, or visual changes related to sudden impairment of blood flow to a part of the brain due to occlusion or rupture of the middle cerebral artery to the brain.", "synonym": [], "xref": [], "is_a": [ "HP:0001297" ], "is_obsolete": "", "replace_id": "" }, "HP:0033763": { "name": [ "death in adulthood", "death in adulthood" ], "alt_id": [], "def": "Cessation of life at the age of 16 years or later.", "synonym": [], "xref": [], "is_a": [ "HP:0011420" ], "is_obsolete": "", "replace_id": "" }, "HP:0033764": { "name": [ "death in middle age", "death in middle age" ], "alt_id": [], "def": "Death between the age of 40 and 60 years.", "synonym": [], "xref": [], "is_a": [ "HP:0033763" ], "is_obsolete": "", "replace_id": "" }, "HP:0033765": { "name": [ "death in late adulthood", "death in late adulthood" ], "alt_id": [], "def": "Death at an age of at least 60 years.", "synonym": [], "xref": [], "is_a": [ "HP:0033763" ], "is_obsolete": "", "replace_id": "" }, "HP:0033766": { "name": [ "polymelia", "polymelia" ], "alt_id": [], "def": "Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis).", "synonym": [], "xref": [], "is_a": [ "HP:0040064" ], "is_obsolete": "", "replace_id": "" }, "HP:0033767": { "name": [ "abnormal single motor unit action potential", "abnormal single motor unit action potential" ], "alt_id": [], "def": "Abnormally high or low single motor unit action potential reading (-Pk Amps).", "synonym": [], "xref": [], "is_a": [ "HP:0003457" ], "is_obsolete": "", "replace_id": "" }, "HP:0033768": { "name": [ "penile thrush", "penile thrush" ], "alt_id": [], "def": "Overgrowth of candida albicans in the penis.", "synonym": [ [ "penile candidiasis", "penile candidiasis" ] ], "xref": [], "is_a": [ "HP:0000036" ], "is_obsolete": "", "replace_id": "" }, "HP:0033769": { "name": [ "fundic gland polyposis", "fundic gland polyposis" ], "alt_id": [], "def": "Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps.", "synonym": [ [ "fundic gland polyps", "fundic gland polyp" ], [ "gastric polyposis", "gastric polyposis" ], [ "proximal polyposis of the stomach", "proximal polyposis of the stomach" ] ], "xref": [], "is_a": [ "HP:0006753" ], "is_obsolete": "", "replace_id": "" }, "HP:0033770": { "name": [ "gastric adenocarcinoma", "gastric adenocarcinoma" ], "alt_id": [], "def": "An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia.", "synonym": [], "xref": [], "is_a": [ "HP:0006753" ], "is_obsolete": "", "replace_id": "" }, "HP:0033771": { "name": [ "pleuritic chest pain", "pleuritic chest pain" ], "alt_id": [], "def": "Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling.", "synonym": [], "xref": [], "is_a": [ "HP:0100749" ], "is_obsolete": "", "replace_id": "" }, "HP:0033772": { "name": [ "abnormal rv / tlc ratio", "abnormal rv / tlc ratio" ], "alt_id": [], "def": "Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.", "synonym": [], "xref": [], "is_a": [ "HP:0030878" ], "is_obsolete": "", "replace_id": "" }, "HP:0033773": { "name": [ "decreased rv / tlc ratio", "decrease rv / tlc ratio" ], "alt_id": [], "def": "An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.", "synonym": [], "xref": [], "is_a": [ "HP:0033772" ], "is_obsolete": "", "replace_id": "" }, "HP:0033774": { "name": [ "impaired renal tubular reabsorption of uric acid", "impaired renal tubular reabsorption of uric acid" ], "alt_id": [], "def": "Decreased renal tubular reabsorption of uric acid.", "synonym": [], "xref": [], "is_a": [ "HP:0011038" ], "is_obsolete": "", "replace_id": "" }, "HP:0033775": { "name": [ "pulmonary imaging sign", "pulmonary imaging sign" ], "alt_id": [], "def": "An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images.", "synonym": [], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0033776": { "name": [ "enamel pearls", "enamel pearl" ], "alt_id": [], "def": "Small nodules of enamel on the root of a tooth.", "synonym": [], "xref": [], "is_a": [ "HP:0000682" ], "is_obsolete": "", "replace_id": "" }, "HP:0033777": { "name": [ "supernumerary cusp", "supernumerary cusp" ], "alt_id": [], "def": "Additional cusps of a dental crown.", "synonym": [ [ "additional cusp", "additional cusp" ], [ "extra cusp", "extra cusp" ] ], "xref": [], "is_a": [ "HP:0011063" ], "is_obsolete": "", "replace_id": "" }, "HP:0033778": { "name": [ "leung cusp", "leung cusp" ], "alt_id": [], "def": "An additional cusp located in the middle of the occlusal surface.", "synonym": [], "xref": [], "is_a": [ "HP:0033777" ], "is_obsolete": "", "replace_id": "" }, "HP:0033779": { "name": [ "barrel - shaped tooth", "barrel - shape tooth" ], "alt_id": [], "def": "A tooth crown with convex mesial and distal surfaces.", "synonym": [], "xref": [], "is_a": [ "HP:0006482" ], "is_obsolete": "", "replace_id": "" }, "HP:0033780": { "name": [ "bulbous tooth", "bulbous tooth" ], "alt_id": [], "def": "A tooth crown with a marked cervical area constriction.", "synonym": [], "xref": [], "is_a": [ "HP:0006482" ], "is_obsolete": "", "replace_id": "" }, "HP:0033781": { "name": [ "tapered tooth", "taper tooth" ], "alt_id": [], "def": "A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors.", "synonym": [], "xref": [], "is_a": [ "HP:0011063" ], "is_obsolete": "", "replace_id": "" }, "HP:0033782": { "name": [ "semilunar tooth", "semilunar tooth" ], "alt_id": [], "def": "An incisor with a half-moon shape incisal edge.", "synonym": [ [ "crescent - shape tooth", "crescent - shape tooth" ], [ "hutchinson incisor", "hutchinson incisor" ], [ "semicircular tooth", "semicircular tooth" ], [ "tooth , semilunar", "tooth , semilunar" ] ], "xref": [], "is_a": [ "HP:0011063" ], "is_obsolete": "", "replace_id": "" }, "HP:0033783": { "name": [ "molar incisor malformation", "molar incisor malformation" ], "alt_id": [], "def": "Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars.", "synonym": [], "xref": [], "is_a": [ "HP:0011070" ], "is_obsolete": "", "replace_id": "" }, "HP:0033784": { "name": [ "dentin dysplasia", "dentin dysplasia" ], "alt_id": [], "def": "This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications.", "synonym": [], "xref": [], "is_a": [ "HP:0010299" ], "is_obsolete": "", "replace_id": "" }, "HP:0033785": { "name": [ "enamel agenesis", "enamel agenesis" ], "alt_id": [], "def": "Complete or almost complete absence of enamel.", "synonym": [], "xref": [], "is_a": [ "HP:0000682" ], "is_obsolete": "", "replace_id": "" }, "HP:0033786": { "name": [ "hypomature enamel", "hypomature enamel" ], "alt_id": [], "def": "Enamel with a white or brown discoloration without hypoplasia.", "synonym": [ [ "enamel opacity", "enamel opacity" ] ], "xref": [], "is_a": [ "HP:0000682" ], "is_obsolete": "", "replace_id": "" }, "HP:0033787": { "name": [ "cementum hypoplasia", "cementum hypoplasia" ], "alt_id": [], "def": "The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth.", "synonym": [ [ "cementum aplasia", "cementum aplasia" ] ], "xref": [], "is_a": [ "HP:0100717" ], "is_obsolete": "", "replace_id": "" }, "HP:0033788": { "name": [ "cementum overgrowth", "cementum overgrowth" ], "alt_id": [], "def": "Excess of cementum on the tooth root surface.", "synonym": [ [ "cementation hyperplasia", "cementation hyperplasia" ], [ "cementum hypertrophy", "cementum hypertrophy" ], [ "cementum overdeveloped", "cementum overdeveloped" ], [ "drumstick - shaped root", "drumstick - shaped root" ], [ "hypercementosis", "hypercementosis" ] ], "xref": [], "is_a": [ "HP:0100717" ], "is_obsolete": "", "replace_id": "" }, "HP:0033789": { "name": [ "triggered by cheese ingestion", "trigger by cheese ingestion" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by eating cheese.", "synonym": [], "xref": [], "is_a": [ "HP:0033793" ], "is_obsolete": "", "replace_id": "" }, "HP:0033790": { "name": [ "thistle tube shaped pulp", "thistle tube shape pulp" ], "alt_id": [], "def": "A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations.", "synonym": [ [ "flame - shaped pulp", "flame - shape pulp" ] ], "xref": [], "is_a": [ "HP:0006479" ], "is_obsolete": "", "replace_id": "" }, "HP:0033791": { "name": [ "tooth ankylosis", "tooth ankylosis" ], "alt_id": [], "def": "Fusion of a tooth with alveolar bone.", "synonym": [], "xref": [], "is_a": [ "HP:0006482" ], "is_obsolete": "", "replace_id": "" }, "HP:0033792": { "name": [ "cross bite", "cross bite" ], "alt_id": [], "def": "Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth.", "synonym": [], "xref": [], "is_a": [ "HP:0000692" ], "is_obsolete": "", "replace_id": "" }, "HP:0033793": { "name": [ "triggered by food ingestion", "trigger by food ingestion" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by eating a certain food.", "synonym": [], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0033794": { "name": [ "acral overgrowth", "acral overgrowth" ], "alt_id": [], "def": "Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement.", "synonym": [ [ "acral enlargement", "acral enlargement" ], [ "acral hypertrophy", "acral hypertrophy" ], [ "acromegalic growth", "acromegalic growth" ], [ "acromegaly", "acromegaly" ] ], "xref": [], "is_a": [ "HP:0001507" ], "is_obsolete": "", "replace_id": "" }, "HP:0033795": { "name": [ "growth without growth hormone", "growth without growth hormone" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0001507" ], "is_obsolete": "", "replace_id": "" }, "HP:0033796": { "name": [ "abnormal leukocyte physiology", "abnormal leukocyte physiology" ], "alt_id": [], "def": "A functional abnormality of a white blood cell.", "synonym": [], "xref": [], "is_a": [ "HP:0001871", "HP:0010978" ], "is_obsolete": "", "replace_id": "" }, "HP:0033797": { "name": [ "leukocyte migration defect", "leukocyte migration defect" ], "alt_id": [], "def": "Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization.", "synonym": [ [ "abnormal leukocyte migration", "abnormal leukocyte migration" ], [ "defects of leukocyte migration", "defect of leukocyte migration" ] ], "xref": [], "is_a": [ "HP:0033796" ], "is_obsolete": "", "replace_id": "" }, "HP:0033798": { "name": [ "impaired leukocyte adhesion", "impaired leukocyte adhesion" ], "alt_id": [], "def": "During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation.", "synonym": [], "xref": [], "is_a": [ "HP:0033797" ], "is_obsolete": "", "replace_id": "" }, "HP:0033799": { "name": [ "abnormal circulating sex hormone concentration", "abnormal circulate sex hormone concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a sex hormone in the blood circulation", "synonym": [ [ "abnormal circulating gonadal steroid concentration", "abnormal circulate gonadal steroid concentration" ], [ "abnormal circulating gonadocorticoid concentration", "abnormal circulate gonadocorticoid concentration" ], [ "abnormal circulating sex steroid concentration", "abnormal circulate sex steroid concentration" ] ], "xref": [], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0033800": { "name": [ "blistering by anatomical location", "blistering by anatomical location" ], "alt_id": [], "def": "Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur.", "synonym": [], "xref": [], "is_a": [ "HP:0008066" ], "is_obsolete": "", "replace_id": "" }, "HP:0033801": { "name": [ "blistering by histological location", "blistering by histological location" ], "alt_id": [], "def": "Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates.", "synonym": [], "xref": [], "is_a": [ "HP:0008066" ], "is_obsolete": "", "replace_id": "" }, "HP:0033802": { "name": [ "intra - epidermal blistering", "intra - epidermal blistering" ], "alt_id": [], "def": "A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes.", "synonym": [], "xref": [], "is_a": [ "HP:0033801" ], "is_obsolete": "", "replace_id": "" }, "HP:0033803": { "name": [ "blistering with sub - lamina densa plane of cleavage", "blister with sub - lamina densa plane of cleavage" ], "alt_id": [], "def": "A type of blistering in which the cleavage plane of blisters is located below the lamina densa.", "synonym": [], "xref": [], "is_a": [ "HP:0033804" ], "is_obsolete": "", "replace_id": "" }, "HP:0033804": { "name": [ "subepidermal blistering", "subepidermal blistering" ], "alt_id": [], "def": "A type of blistering in which the lesions are located beneath the epidermis.", "synonym": [], "xref": [], "is_a": [ "HP:0033801" ], "is_obsolete": "", "replace_id": "" }, "HP:0033805": { "name": [ "non - necrotizing granuloma", "non - necrotizing granuloma" ], "alt_id": [], "def": "A granuloma which is not associated with necrotic changes.", "synonym": [], "xref": [], "is_a": [ "HP:0032252" ], "is_obsolete": "", "replace_id": "" }, "HP:0033806": { "name": [ "abnormal epidermis stratum granulosum morphology", "abnormal epidermis stratum granulosum morphology" ], "alt_id": [], "def": "An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum.", "synonym": [], "xref": [], "is_a": [ "HP:0011124" ], "is_obsolete": "", "replace_id": "" }, "HP:0033807": { "name": [ "absent keratohyalin granules", "absent keratohyalin granule" ], "alt_id": [], "def": "Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin.", "synonym": [], "xref": [], "is_a": [ "HP:0033806" ], "is_obsolete": "", "replace_id": "" }, "HP:0033808": { "name": [ "spermatocele", "spermatocele" ], "alt_id": [], "def": "A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily.", "synonym": [], "xref": [], "is_a": [ "HP:0009714" ], "is_obsolete": "", "replace_id": "" }, "HP:0033809": { "name": [ "increased circulating 17 hydroxypregnenolone concentration", "increase circulate 17 hydroxypregnenolone concentration" ], "alt_id": [], "def": "Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids.", "synonym": [], "xref": [], "is_a": [ "HP:0031187" ], "is_obsolete": "", "replace_id": "" }, "HP:0033810": { "name": [ "decreased circulating dihydrotestosterone concentration", "decrease circulate dihydrotestosterone concentration" ], "alt_id": [], "def": "A reduced concentration of dihydrotestosterone in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0030349" ], "is_obsolete": "", "replace_id": "" }, "HP:0033811": { "name": [ "abnormal circulating androstenedione concentration", "abnormal circulate androstenedione concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of androstenedione in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0030347" ], "is_obsolete": "", "replace_id": "" }, "HP:0033812": { "name": [ "decreased circulating androstenedione concentration", "decrease circulate androstenedione concentration" ], "alt_id": [], "def": "Reduced concentration of androstenedione in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033811" ], "is_obsolete": "", "replace_id": "" }, "HP:0033813": { "name": [ "perilobular", "perilobular" ], "alt_id": [], "def": "Situated or occurring around a lobe of an organ.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0033814": { "name": [ "paraseptal", "paraseptal" ], "alt_id": [], "def": "Characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0033815": { "name": [ "bronchocentric", "bronchocentric" ], "alt_id": [], "def": "Centered in bronchi or bronchioles.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0033816": { "name": [ "centrilobular", "centrilobular" ], "alt_id": [], "def": "Located in the center of the secondary pulmonary lobules, which are the functional units of the lungs.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0033817": { "name": [ "miliary", "miliary" ], "alt_id": [], "def": "Characterized by numerous small lesions said to resemble millet seed.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0033818": { "name": [ "reticular", "reticular" ], "alt_id": [], "def": "Applies to an abnormality whose distribution and appearance resembles a net or network-like structure.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0033819": { "name": [ "perilymphatic", "perilymphatic" ], "alt_id": [], "def": "Applies to an abnormality whose distribution and appearance are located at or near lymphatic structures (node or vessel).", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0033820": { "name": [ "apical", "apical" ], "alt_id": [], "def": "Applies to an abnormality whose distribution and appearance are located at the apex of an organ. For instance, apical refers to the superior portion of the lung.", "synonym": [], "xref": [], "is_a": [ "HP:0012836" ], "is_obsolete": "", "replace_id": "" }, "HP:0033821": { "name": [ "pulmonary mass", "pulmonary mass" ], "alt_id": [], "def": "A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).", "synonym": [], "xref": [], "is_a": [ "HP:0033822" ], "is_obsolete": "", "replace_id": "" }, "HP:0033822": { "name": [ "mass on thoracic imaging", "mass on thoracic imaging" ], "alt_id": [], "def": "A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter\\n(without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features.", "synonym": [], "xref": [], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0033823": { "name": [ "mediastinal mass", "mediastinal mass" ], "alt_id": [], "def": "A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).", "synonym": [], "xref": [], "is_a": [ "HP:0033822" ], "is_obsolete": "", "replace_id": "" }, "HP:0033824": { "name": [ "pleural mass", "pleural mass" ], "alt_id": [], "def": "A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).", "synonym": [], "xref": [], "is_a": [ "HP:0033822" ], "is_obsolete": "", "replace_id": "" }, "HP:0033825": { "name": [ "superior mediastinal mass", "superior mediastinal mass" ], "alt_id": [], "def": "A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).", "synonym": [], "xref": [], "is_a": [ "HP:0033823" ], "is_obsolete": "", "replace_id": "" }, "HP:0033826": { "name": [ "inferior mediastinal mass", "inferior mediastinal mass" ], "alt_id": [], "def": "A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).", "synonym": [], "xref": [], "is_a": [ "HP:0033823" ], "is_obsolete": "", "replace_id": "" }, "HP:0033827": { "name": [ "anterior mediastinal mass", "anterior mediastinal mass" ], "alt_id": [], "def": "A type of inferior mediastinal mass that is located in front of the pericardium.", "synonym": [], "xref": [], "is_a": [ "HP:0033826" ], "is_obsolete": "", "replace_id": "" }, "HP:0033828": { "name": [ "middle mediastinal mass", "middle mediastinal mass" ], "alt_id": [], "def": "A type of inferior mediastinal mass that is located withinthe pericardium.", "synonym": [], "xref": [], "is_a": [ "HP:0033826" ], "is_obsolete": "", "replace_id": "" }, "HP:0033829": { "name": [ "posterior mediastinal mass", "posterior mediastinal mass" ], "alt_id": [], "def": "A type of inferior mediastinal mass that is located behind the pericardium.", "synonym": [], "xref": [], "is_a": [ "HP:0033826" ], "is_obsolete": "", "replace_id": "" }, "HP:0033830": { "name": [ "hyperdense pulmonary mass", "hyperdense pulmonary mass" ], "alt_id": [], "def": "A type of pulmonary mass with high attenuation.", "synonym": [], "xref": [], "is_a": [ "HP:0033821" ], "is_obsolete": "", "replace_id": "" }, "HP:0033831": { "name": [ "cavitating pulmonary mass", "cavitating pulmonary mass" ], "alt_id": [], "def": "Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm.", "synonym": [], "xref": [], "is_a": [ "HP:0033655", "HP:0033821" ], "is_obsolete": "", "replace_id": "" }, "HP:0033832": { "name": [ "livedo", "livedo" ], "alt_id": [], "def": "A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels.", "synonym": [ [ "livedoid dermatitis", "livedoid dermatitis" ] ], "xref": [], "is_a": [ "HP:0011276" ], "is_obsolete": "", "replace_id": "" }, "HP:0033833": { "name": [ "elevated circulating soluble cd25 concentration", "elevate circulate soluble cd25 concentration" ], "alt_id": [], "def": "Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response.", "synonym": [ [ "elevated circulating interleukin - 2 receptor alpha - chain", "elevate circulate interleukin - 2 receptor alpha - chain" ] ], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0033834": { "name": [ "malaise", "malaise" ], "alt_id": [], "def": "A feeling of general discomfort, weakness, or lack of health.", "synonym": [], "xref": [], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0033835": { "name": [ "abnormal renal vascular morphology", "abnormal renal vascular morphology" ], "alt_id": [], "def": "Anomalous structure of a blood vessel in the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0033836": { "name": [ "abnormal intrarenal artery morphology", "abnormal intrarenal artery morphology" ], "alt_id": [], "def": "An anomalous structure of an artery located in the kidney.", "synonym": [ [ "abnormal kidney arterial blood vessel morphology", "abnormal kidney arterial blood vessel morphology" ] ], "xref": [], "is_a": [ "HP:0033835" ], "is_obsolete": "", "replace_id": "" }, "HP:0033837": { "name": [ "abnormal arcuate artery morphology", "abnormal arcuate artery morphology" ], "alt_id": [], "def": "Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla.", "synonym": [ [ "abnormalities of arcuate arteries", "abnormality of arcuate artery" ] ], "xref": [], "is_a": [ "HP:0033836" ], "is_obsolete": "", "replace_id": "" }, "HP:0033838": { "name": [ "dysphoria", "dysphoria" ], "alt_id": [], "def": "A state of feeling very unhappy, uneasy, or dissatisfied.", "synonym": [], "xref": [], "is_a": [ "HP:0100851" ], "is_obsolete": "", "replace_id": "" }, "HP:0033839": { "name": [ "testicular pain", "testicular pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes.", "synonym": [ [ "pain in testicles", "pain in testicle" ] ], "xref": [], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0033840": { "name": [ "postmenopausal bleeding", "postmenopausal bleed" ], "alt_id": [], "def": "Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy.", "synonym": [], "xref": [], "is_a": [ "HP:0030012" ], "is_obsolete": "", "replace_id": "" }, "HP:0033841": { "name": [ "ocular pruritus", "ocular pruritus" ], "alt_id": [], "def": "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye.", "synonym": [ [ "itchy eyes", "itchy eye" ], [ "ocular itch", "ocular itch" ] ], "xref": [], "is_a": [ "HP:0000989" ], "is_obsolete": "", "replace_id": "" }, "HP:0033842": { "name": [ "early satiety", "early satiety" ], "alt_id": [], "def": "The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food.", "synonym": [ [ "feeling full quickly when eating", "feel full quickly when eat" ], [ "not able to finish a normal - sized meal", "not able to finish a normal - size meal" ] ], "xref": [], "is_a": [ "HP:0011458" ], "is_obsolete": "", "replace_id": "" }, "HP:0033843": { "name": [ "postprandial fullness", "postprandial fullness" ], "alt_id": [], "def": "Feeling excessively full after meals.", "synonym": [], "xref": [], "is_a": [ "HP:0011458" ], "is_obsolete": "", "replace_id": "" }, "HP:0033844": { "name": [ "tachyphrenia", "tachyphrenia" ], "alt_id": [], "def": "The sensation that thoughts are moving too quickly.", "synonym": [ [ "racing thoughts", "race thought" ] ], "xref": [], "is_a": [ "HP:0100543" ], "is_obsolete": "", "replace_id": "" }, "HP:0033845": { "name": [ "sense of impending doom", "sense of impend doom" ], "alt_id": [], "def": "A feeling that something life-threatening or tragic is about to occur.", "synonym": [ [ "sense of doom", "sense of doom" ] ], "xref": [], "is_a": [ "HP:0100852" ], "is_obsolete": "", "replace_id": "" }, "HP:0033846": { "name": [ "spinal hypomyelination", "spinal hypomyelination" ], "alt_id": [], "def": "Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis.", "synonym": [], "xref": [], "is_a": [ "HP:0003429" ], "is_obsolete": "", "replace_id": "" }, "HP:0033847": { "name": [ "phantageusia", "phantageusia" ], "alt_id": [], "def": "A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment.", "synonym": [ [ "phantom taste", "phantom taste" ] ], "xref": [], "is_a": [ "HP:0000223" ], "is_obsolete": "", "replace_id": "" }, "HP:0033848": { "name": [ "receptive aphasia", "receptive aphasia" ], "alt_id": [], "def": "A type of aphasia that is characterized by impaired language comprehension.", "synonym": [ [ "fluent aphasia", "fluent aphasia" ], [ "wernicke aphasia", "wernicke aphasia" ] ], "xref": [], "is_a": [ "HP:0002381" ], "is_obsolete": "", "replace_id": "" }, "HP:0033849": { "name": [ "bilingual aphasia", "bilingual aphasia" ], "alt_id": [], "def": "The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages.", "synonym": [], "xref": [], "is_a": [ "HP:0002381" ], "is_obsolete": "", "replace_id": "" }, "HP:0033850": { "name": [ "coldness", "coldness" ], "alt_id": [], "def": "Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness.", "synonym": [ [ "cold skin temperature", "cold skin temperature" ], [ "cool skin", "cool skin" ], [ "cool skin temperature", "cool skin temperature" ], [ "coolness to palpation", "coolness to palpation" ] ], "xref": [], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0033851": { "name": [ "oculomotor synkinesis", "oculomotor synkinesis" ], "alt_id": [], "def": "Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction.", "synonym": [], "xref": [], "is_a": [ "HP:0000496" ], "is_obsolete": "", "replace_id": "" }, "HP:0033852": { "name": [ "abnormal intrarenal vein morphology", "abnormal intrarenal vein morphology" ], "alt_id": [], "def": "Abnormal structure of a vein located inside the kidney parenchyma.", "synonym": [], "xref": [], "is_a": [ "HP:0033835" ], "is_obsolete": "", "replace_id": "" }, "HP:0033853": { "name": [ "abnormal arcuate vein morphology", "abnormal arcuate vein morphology" ], "alt_id": [], "def": "Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla).", "synonym": [], "xref": [], "is_a": [ "HP:0033852" ], "is_obsolete": "", "replace_id": "" }, "HP:0033854": { "name": [ "abnormal interlobular vein morphology", "abnormal interlobular vein morphology" ], "alt_id": [], "def": "Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct).", "synonym": [], "xref": [], "is_a": [ "HP:0033852" ], "is_obsolete": "", "replace_id": "" }, "HP:0033855": { "name": [ "abnormal interlobular vein lumen morphology", "abnormal interlobular vein lumen morphology" ], "alt_id": [], "def": "Any structural anomaly located in the the inside space of the interlobular veins of the kidney.", "synonym": [ [ "abnormal morphology of the interlobular vein lumen", "abnormal morphology of the interlobular vein lumen" ] ], "xref": [], "is_a": [ "HP:0033854" ], "is_obsolete": "", "replace_id": "" }, "HP:0033856": { "name": [ "cholesterol emboli within interlobular vein lumen", "cholesterol embolus within interlobular vein lumen" ], "alt_id": [], "def": "Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.", "synonym": [], "xref": [], "is_a": [ "HP:0033855" ], "is_obsolete": "", "replace_id": "" }, "HP:0033857": { "name": [ "intraluminal thrombi within interlobular veins", "intraluminal thrombus within interlobular vein" ], "alt_id": [], "def": "Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033855" ], "is_obsolete": "", "replace_id": "" }, "HP:0033858": { "name": [ "organized thrombi within interlobular vein lumen", "organize thrombus within interlobular vein lumen" ], "alt_id": [], "def": "Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033855" ], "is_obsolete": "", "replace_id": "" }, "HP:0033859": { "name": [ "abnormal peritubular capillary morphology", "abnormal peritubular capillary morphology" ], "alt_id": [], "def": "Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule,", "synonym": [], "xref": [], "is_a": [ "HP:0033835" ], "is_obsolete": "", "replace_id": "" }, "HP:0033860": { "name": [ "abnormal cortical peritubular capillary morphology", "abnormal cortical peritubular capillary morphology" ], "alt_id": [], "def": "Anomalous structure of the peritubular capillaries located in the cortex of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033859" ], "is_obsolete": "", "replace_id": "" }, "HP:0033861": { "name": [ "multilamellation of cortical peritubular capillary basement membranes", "multilamellation of cortical peritubular capillary basement membrane" ], "alt_id": [], "def": "Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers.", "synonym": [ [ "multilamellation of basement membranes within cortical peritubular capillaries", "multilamellation of basement membrane within cortical peritubular capillary" ] ], "xref": [], "is_a": [ "HP:0033860" ], "is_obsolete": "", "replace_id": "" }, "HP:0033862": { "name": [ "cortical peritubular capillaritis", "cortical peritubular capillaritis" ], "alt_id": [], "def": "Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.", "synonym": [], "xref": [], "is_a": [ "HP:0033860" ], "is_obsolete": "", "replace_id": "" }, "HP:0033863": { "name": [ "abnormal cortical peritubular capillary lumen morphology", "abnormal cortical peritubular capillary lumen morphology" ], "alt_id": [], "def": "Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033860" ], "is_obsolete": "", "replace_id": "" }, "HP:0033864": { "name": [ "abnormal medullary peritubular capillary morphology", "abnormal medullary peritubular capillary morphology" ], "alt_id": [], "def": "Anomalous structure of the peritubular capillaries located in the medulla of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033859" ], "is_obsolete": "", "replace_id": "" }, "HP:0033865": { "name": [ "medullary peritubular capillaritis", "medullary peritubular capillaritis" ], "alt_id": [], "def": "Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.", "synonym": [], "xref": [], "is_a": [ "HP:0033864" ], "is_obsolete": "", "replace_id": "" }, "HP:0033866": { "name": [ "medullary peritubular capillary erythrocyte congestion", "medullary peritubular capillary erythrocyte congestion" ], "alt_id": [], "def": "Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open).", "synonym": [], "xref": [], "is_a": [ "HP:0033864" ], "is_obsolete": "", "replace_id": "" }, "HP:0033867": { "name": [ "multilamellation of medullary peritubular capillary basement membranes", "multilamellation of medullary peritubular capillary basement membrane" ], "alt_id": [], "def": "Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers.", "synonym": [ [ "multilamellation of basement membranes within medullary peritubular capillaries", "multilamellation of basement membrane within medullary peritubular capillary" ] ], "xref": [], "is_a": [ "HP:0033864" ], "is_obsolete": "", "replace_id": "" }, "HP:0033868": { "name": [ "abnormal medullary peritubular capillary lumen morphology", "abnormal medullary peritubular capillary lumen morphology" ], "alt_id": [], "def": "Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033864" ], "is_obsolete": "", "replace_id": "" }, "HP:0033869": { "name": [ "medullary peritubular capillary lumen cholesterol emboli", "medullary peritubular capillary lumen cholesterol embolus" ], "alt_id": [], "def": "Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.", "synonym": [ [ "cholesterol emboli within the medullary peritubular capillary lumen", "cholesterol embolus within the medullary peritubular capillary lumen" ] ], "xref": [], "is_a": [ "HP:0033868" ], "is_obsolete": "", "replace_id": "" }, "HP:0033870": { "name": [ "medullary peritubular capillary intraluminal thrombi", "medullary peritubular capillary intraluminal thrombus" ], "alt_id": [], "def": "Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney.", "synonym": [ [ "intraluminal thrombi within medullary peritubular capillaries", "intraluminal thrombus within medullary peritubular capillary" ] ], "xref": [], "is_a": [ "HP:0033868" ], "is_obsolete": "", "replace_id": "" }, "HP:0033871": { "name": [ "medullary peritubular capillary lumen organized thrombi", "medullary peritubular capillary lumen organize thrombus" ], "alt_id": [], "def": "Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney.", "synonym": [ [ "organized thrombi within the medullary peritubular capillary lumen", "organize thrombus within the medullary peritubular capillary lumen" ] ], "xref": [], "is_a": [ "HP:0033868" ], "is_obsolete": "", "replace_id": "" }, "HP:0033872": { "name": [ "cortical peritubular capillary lumen cholesterol emboli", "cortical peritubular capillary lumen cholesterol embolus" ], "alt_id": [], "def": "Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.", "synonym": [], "xref": [], "is_a": [ "HP:0033863" ], "is_obsolete": "", "replace_id": "" }, "HP:0033873": { "name": [ "cortical peritubular capillary intraluminal thrombi", "cortical peritubular capillary intraluminal thrombus" ], "alt_id": [], "def": "Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney.", "synonym": [ [ "intraluminal thrombi within cortical peritubular capillaries", "intraluminal thrombus within cortical peritubular capillary" ] ], "xref": [], "is_a": [ "HP:0033863" ], "is_obsolete": "", "replace_id": "" }, "HP:0033874": { "name": [ "cortical peritubular capillary lumen organized thrombi", "cortical peritubular capillary lumen organize thrombus" ], "alt_id": [], "def": "Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033863" ], "is_obsolete": "", "replace_id": "" }, "HP:0033875": { "name": [ "abnormal arcuate vein lumen morphology", "abnormal arcuate vein lumen morphology" ], "alt_id": [], "def": "Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033853" ], "is_obsolete": "", "replace_id": "" }, "HP:0033876": { "name": [ "arcuate vein lumen cholesterol emboli", "arcuate vein lumen cholesterol embolus" ], "alt_id": [], "def": "Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.", "synonym": [ [ "cholesterol emboli within arcuate vein lumen", "cholesterol embolus within arcuate vein lumen" ] ], "xref": [], "is_a": [ "HP:0033875" ], "is_obsolete": "", "replace_id": "" }, "HP:0033877": { "name": [ "arcuate vein intraluminal thrombi", "arcuate vein intraluminal thrombus" ], "alt_id": [], "def": "Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney.", "synonym": [ [ "intraluminal thrombi within arcuate veins", "intraluminal thrombus within arcuate vein" ] ], "xref": [], "is_a": [ "HP:0033875" ], "is_obsolete": "", "replace_id": "" }, "HP:0033878": { "name": [ "arcuate vein lumen organized thrombi", "arcuate vein lumen organize thrombus" ], "alt_id": [], "def": "Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney.", "synonym": [ [ "organized thrombi within arcuate vein lumen", "organize thrombus within arcuate vein lumen" ] ], "xref": [], "is_a": [ "HP:0033875" ], "is_obsolete": "", "replace_id": "" }, "HP:0033879": { "name": [ "abnormal arcuate vein intima / media morphology", "abnormal arcuate vein intima / medium morphology" ], "alt_id": [], "def": "Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033853" ], "is_obsolete": "", "replace_id": "" }, "HP:0033880": { "name": [ "arcuate vein intimal mucoid edema", "arcuate vein intimal mucoid edema" ], "alt_id": [], "def": "Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining.", "synonym": [ [ "intimal mucoid edema within arcuate veins", "intimal mucoid edema within arcuate vein" ] ], "xref": [], "is_a": [ "HP:0033879" ], "is_obsolete": "", "replace_id": "" }, "HP:0033881": { "name": [ "arcuate vein intimal / medial myxomatous degeneration", "arcuate vein intimal / medial myxomatous degeneration" ], "alt_id": [], "def": "Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney.", "synonym": [ [ "myxomatous change within arcuate vein intima / media", "myxomatous change within arcuate vein intima / medium" ] ], "xref": [], "is_a": [ "HP:0033879" ], "is_obsolete": "", "replace_id": "" }, "HP:0033882": { "name": [ "arcuate vein intima / medial amyloidosis", "arcuate vein intima / medial amyloidosis" ], "alt_id": [], "def": "Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.", "synonym": [ [ "amyloidosis within arcuate vein intima / media", "amyloidosis within arcuate vein intima / medium" ] ], "xref": [], "is_a": [ "HP:0033879" ], "is_obsolete": "", "replace_id": "" }, "HP:0033883": { "name": [ "abnormal cortical radial artery morphology", "abnormal cortical radial artery morphology" ], "alt_id": [], "def": "Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney.", "synonym": [ [ "abnormal interlobular artery morphology", "abnormal interlobular artery morphology" ] ], "xref": [], "is_a": [ "HP:0033836" ], "is_obsolete": "", "replace_id": "" }, "HP:0033884": { "name": [ "abnormal cortical radial artery lumen morphology", "abnormal cortical radial artery lumen morphology" ], "alt_id": [], "def": "Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney.", "synonym": [ [ "abnormal interlobular arterial lumen morphology", "abnormal interlobular arterial lumen morphology" ] ], "xref": [], "is_a": [ "HP:0033883" ], "is_obsolete": "", "replace_id": "" }, "HP:0033885": { "name": [ "cortical radial artery lumen cholesterol emboli", "cortical radial artery lumen cholesterol embolus" ], "alt_id": [], "def": "Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.", "synonym": [], "xref": [], "is_a": [ "HP:0033884" ], "is_obsolete": "", "replace_id": "" }, "HP:0033886": { "name": [ "abnormal arcuate artery intima / media morphology", "abnormal arcuate artery intima / medium morphology" ], "alt_id": [], "def": "Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla.", "synonym": [ [ "abnormalities of the arcuate arterial intima / media", "abnormality of the arcuate arterial intima / medium" ] ], "xref": [], "is_a": [ "HP:0033837" ], "is_obsolete": "", "replace_id": "" }, "HP:0033887": { "name": [ "cortical radial artery intimal / medial amyloidosis", "cortical radial artery intimal / medial amyloidosis" ], "alt_id": [], "def": "Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy", "synonym": [ [ "amyloidosis within interlobular arterial intima / media", "amyloidosis within interlobular arterial intima / medium" ], [ "interlobular arterial intima / media amyloidosis", "interlobular arterial intima / medium amyloidosis" ] ], "xref": [], "is_a": [ "HP:0033888" ], "is_obsolete": "", "replace_id": "" }, "HP:0033888": { "name": [ "abnormal cortical radial artery intima / media morphology", "abnormal cortical radial artery intima / medium morphology" ], "alt_id": [], "def": "Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney.", "synonym": [ [ "abnormalities of the interlobular arterial intima / media", "abnormality of the interlobular arterial intima / medium" ] ], "xref": [], "is_a": [ "HP:0033883" ], "is_obsolete": "", "replace_id": "" }, "HP:0033889": { "name": [ "abnormal renal arteriole morphology", "abnormal renal arteriole morphology" ], "alt_id": [], "def": "Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents.", "synonym": [], "xref": [], "is_a": [ "HP:0033835" ], "is_obsolete": "", "replace_id": "" }, "HP:0033890": { "name": [ "abnormal renal arteriole lumen morphology", "abnormal renal arteriole lumen morphology" ], "alt_id": [], "def": "Abnormal structural characteristics of the interior space (lumen) of renal arterioles.", "synonym": [], "xref": [], "is_a": [ "HP:0033889" ], "is_obsolete": "", "replace_id": "" }, "HP:0033891": { "name": [ "renal arteriolar lumen cholesterol emboli", "renal arteriolar lumen cholesterol embolus" ], "alt_id": [], "def": "Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.", "synonym": [ [ "cholesterol emboli within the arteriolar lumen", "cholesterol embolus within the arteriolar lumen" ] ], "xref": [], "is_a": [ "HP:0033890" ], "is_obsolete": "", "replace_id": "" }, "HP:0033892": { "name": [ "abnormal renal arteriole intima / media morphology", "abnormal renal arteriole intima / medium morphology" ], "alt_id": [], "def": "Any structural anomaly located in the inner or middle layer of the arterioles of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033889" ], "is_obsolete": "", "replace_id": "" }, "HP:0033893": { "name": [ "renal arteriolar lumen organized thrombi", "renal arteriolar lumen organize thrombus" ], "alt_id": [], "def": "Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033890" ], "is_obsolete": "", "replace_id": "" }, "HP:0033894": { "name": [ "renal arteriolar intraluminal thrombi", "renal arteriolar intraluminal thrombus" ], "alt_id": [], "def": "Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033890" ], "is_obsolete": "", "replace_id": "" }, "HP:0033895": { "name": [ "abnormal renal arteriole endothelium morphology", "abnormal renal arteriole endothelium morphology" ], "alt_id": [], "def": "Any structural anomaly of the lining (endothelium) of the arterioles of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033889" ], "is_obsolete": "", "replace_id": "" }, "HP:0033896": { "name": [ "abnormal arcuate artery lumen morphology", "abnormal arcuate artery lumen morphology" ], "alt_id": [], "def": "Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney.", "synonym": [ [ "abnormalities of the arcuate arterial lumen", "abnormality of the arcuate arterial lumen" ] ], "xref": [], "is_a": [ "HP:0033837" ], "is_obsolete": "", "replace_id": "" }, "HP:0033897": { "name": [ "arcuate artery lumen cholesterol emboli", "arcuate artery lumen cholesterol embolus" ], "alt_id": [], "def": "Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.", "synonym": [ [ "cholesterol emboli within arcuate arterial lumen", "cholesterol embolus within arcuate arterial lumen" ] ], "xref": [], "is_a": [ "HP:0033896" ], "is_obsolete": "", "replace_id": "" }, "HP:0033898": { "name": [ "arcuate artery intraluminal thrombi", "arcuate artery intraluminal thrombus" ], "alt_id": [], "def": "Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney.", "synonym": [ [ "intraluminal thrombi within arcuate arterial lumen", "intraluminal thrombus within arcuate arterial lumen" ] ], "xref": [], "is_a": [ "HP:0033896" ], "is_obsolete": "", "replace_id": "" }, "HP:0033899": { "name": [ "arcuate artery lumen organized thrombi", "arcuate artery lumen organize thrombus" ], "alt_id": [], "def": "Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney.", "synonym": [ [ "organized thrombi within arcuate arterial lumen", "organize thrombus within arcuate arterial lumen" ] ], "xref": [], "is_a": [ "HP:0033896" ], "is_obsolete": "", "replace_id": "" }, "HP:0033900": { "name": [ "renal arteriole intima / media amyloidosis", "renal arteriole intima / medium amyloidosis" ], "alt_id": [], "def": "Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.", "synonym": [ [ "amyloidosis within renal arteriolar intima / media", "amyloidosis within renal arteriolar intima / medium" ] ], "xref": [], "is_a": [ "HP:0033892" ], "is_obsolete": "", "replace_id": "" }, "HP:0033901": { "name": [ "abnormal arcuate artery endothelium morphology", "abnormal arcuate artery endothelium morphology" ], "alt_id": [], "def": "Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033837" ], "is_obsolete": "", "replace_id": "" }, "HP:0033902": { "name": [ "arcuate artery endotheliosis", "arcuate artery endotheliosis" ], "alt_id": [], "def": "Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling.", "synonym": [ [ "endotheliosis within arcuate arteries", "endotheliosis within arcuate artery" ] ], "xref": [], "is_a": [ "HP:0033901" ], "is_obsolete": "", "replace_id": "" }, "HP:0033903": { "name": [ "arcuate artery endoarterial hypercellularity", "arcuate artery endoarterial hypercellularity" ], "alt_id": [], "def": "Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney.", "synonym": [ [ "endoarterial hypercellularity within arcuate artery", "endoarterial hypercellularity within arcuate artery" ] ], "xref": [], "is_a": [ "HP:0033901" ], "is_obsolete": "", "replace_id": "" }, "HP:0033904": { "name": [ "renal arteriole intima / media hyalinosis", "renal arteriole intima / medium hyalinosis" ], "alt_id": [], "def": "Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis.", "synonym": [], "xref": [], "is_a": [ "HP:0033892" ], "is_obsolete": "", "replace_id": "" }, "HP:0033905": { "name": [ "arcuate artery intima / media arteriosclerosis", "arcuate artery intima / medium arteriosclerosis" ], "alt_id": [], "def": "Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina.", "synonym": [ [ "arteriosclerosis within arcuate arterial intima / media", "arteriosclerosis within arcuate arterial intima / medium" ] ], "xref": [], "is_a": [ "HP:0033886" ], "is_obsolete": "", "replace_id": "" }, "HP:0033906": { "name": [ "renal intimal / medial arteriolitis", "renal intimal / medial arteriolitis" ], "alt_id": [], "def": "Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural.", "synonym": [], "xref": [], "is_a": [ "HP:0033892" ], "is_obsolete": "", "replace_id": "" }, "HP:0033907": { "name": [ "renal arteriole intima / media arteriolosclerosis", "renal arteriole intima / medium arteriolosclerosis" ], "alt_id": [], "def": "Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina.", "synonym": [], "xref": [], "is_a": [ "HP:0033892" ], "is_obsolete": "", "replace_id": "" }, "HP:0033908": { "name": [ "renal arteriole medial atrophy", "renal arteriole medial atrophy" ], "alt_id": [], "def": "Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033892" ], "is_obsolete": "", "replace_id": "" }, "HP:0033909": { "name": [ "arcuate vein medial hypertrophy", "arcuate vein medial hypertrophy" ], "alt_id": [], "def": "Increased thickness of middle layer of the arcuate veins of the kidney.", "synonym": [ [ "medial hypertrophy within arcuate veins", "medial hypertrophy within arcuate vein" ] ], "xref": [], "is_a": [ "HP:0033879" ], "is_obsolete": "", "replace_id": "" }, "HP:0033910": { "name": [ "arcuate vein medial atrophy", "arcuate vein medial atrophy" ], "alt_id": [], "def": "Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney.", "synonym": [ [ "medial atrophy within arcuate veins", "medial atrophy within arcuate vein" ] ], "xref": [], "is_a": [ "HP:0033879" ], "is_obsolete": "", "replace_id": "" }, "HP:0033911": { "name": [ "cortical radial artery medial hypertrophy", "cortical radial artery medial hypertrophy" ], "alt_id": [], "def": "Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.", "synonym": [ [ "interlobular artery medial hypertrophy", "interlobular artery medial hypertrophy" ], [ "medial hypertrophy within interlobular arteries", "medial hypertrophy within interlobular artery" ] ], "xref": [], "is_a": [ "HP:0033888" ], "is_obsolete": "", "replace_id": "" }, "HP:0033912": { "name": [ "cortical radial artery medial atrophy", "cortical radial artery medial atrophy" ], "alt_id": [], "def": "Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.", "synonym": [ [ "interlobular artery medial atrophy", "interlobular artery medial atrophy" ], [ "medial atrophy within interlobular arteries", "medial atrophy within interlobular artery" ] ], "xref": [], "is_a": [ "HP:0033888" ], "is_obsolete": "", "replace_id": "" }, "HP:0033913": { "name": [ "cortical radial artery medial / intimal arteriitis", "cortical radial artery medial / intimal arteriitis" ], "alt_id": [], "def": "Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney.", "synonym": [ [ "arteritis within interlobular arterial intima / media", "arteritis within interlobular arterial intima / medium" ], [ "interlobular artery medial / intimal arteriitis", "interlobular artery medial / intimal arteriitis" ] ], "xref": [], "is_a": [ "HP:0033888" ], "is_obsolete": "", "replace_id": "" }, "HP:0033914": { "name": [ "arcuate artery intima / media amyloidosis", "arcuate artery intima / medium amyloidosis" ], "alt_id": [], "def": "Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.", "synonym": [ [ "amyloidosis within arcuate arterial intima / media", "amyloidosis within arcuate arterial intima / medium" ] ], "xref": [], "is_a": [ "HP:0033886" ], "is_obsolete": "", "replace_id": "" }, "HP:0033915": { "name": [ "arcuate artery intimal mucoid edema", "arcuate artery intimal mucoid edema" ], "alt_id": [], "def": "Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining.", "synonym": [], "xref": [], "is_a": [ "HP:0033886" ], "is_obsolete": "", "replace_id": "" }, "HP:0033916": { "name": [ "medial / intimal arcuate venosclerosis", "medial / intimal arcuate venosclerosis" ], "alt_id": [], "def": "Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins.", "synonym": [], "xref": [], "is_a": [ "HP:0033879" ], "is_obsolete": "", "replace_id": "" }, "HP:0033917": { "name": [ "arcuate intimal / medial venulitis", "arcuate intimal / medial venulitis" ], "alt_id": [], "def": "Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural.", "synonym": [ [ "venulitis within arcuate vein intima / media", "venulitis within arcuate vein intima / medium" ] ], "xref": [], "is_a": [ "HP:0033879" ], "is_obsolete": "", "replace_id": "" }, "HP:0033918": { "name": [ "renal arteriole medial hypertrophy", "renal arteriole medial hypertrophy" ], "alt_id": [], "def": "Increased thickness of middle layer of the arterioles of the kidney.", "synonym": [ [ "medial hypertrophy within arterioles", "medial hypertrophy within arteriole" ] ], "xref": [], "is_a": [ "HP:0033892" ], "is_obsolete": "", "replace_id": "" }, "HP:0033919": { "name": [ "medial / intimal arcuate venulitis", "medial / intimal arcuate venulitis" ], "alt_id": [], "def": "Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural.", "synonym": [], "xref": [], "is_a": [ "HP:0033879" ], "is_obsolete": "", "replace_id": "" }, "HP:0033920": { "name": [ "renal arteriole intima / media storage material accumulation", "renal arteriole intima / medium storage material accumulation" ], "alt_id": [], "def": "Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney.", "synonym": [ [ "accumulated storage material within arteriolar intima / media", "accumulate storage material within arteriolar intima / medium" ] ], "xref": [], "is_a": [ "HP:0033892" ], "is_obsolete": "", "replace_id": "" }, "HP:0033921": { "name": [ "renal arteriole endoarterial hypercellularity", "renal arteriole endoarterial hypercellularity" ], "alt_id": [], "def": "Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney.", "synonym": [ [ "endoarterial hypercellularity within arterioles", "endoarterial hypercellularity within arteriole" ] ], "xref": [], "is_a": [ "HP:0033895" ], "is_obsolete": "", "replace_id": "" }, "HP:0033922": { "name": [ "renal arteriole leukocytic endoarterial hypercellularity", "renal arteriole leukocytic endoarterial hypercellularity" ], "alt_id": [], "def": "A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes).", "synonym": [], "xref": [], "is_a": [ "HP:0033921" ], "is_obsolete": "", "replace_id": "" }, "HP:0033923": { "name": [ "renal arteriole foam cell endoarterial hypercellularity", "renal arteriole foam cell endoarterial hypercellularity" ], "alt_id": [], "def": "A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.", "synonym": [ [ "endoarterial hypercellularity within arterioles consisting of foam cells", "endoarterial hypercellularity within arteriole consist of foam cell" ] ], "xref": [], "is_a": [ "HP:0033922" ], "is_obsolete": "", "replace_id": "" }, "HP:0033924": { "name": [ "renal arteriole neutrophil endoarterial hypercellularity", "renal arteriole neutrophil endoarterial hypercellularity" ], "alt_id": [], "def": "A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen.", "synonym": [ [ "endoarterial hypercellularity within arterioles consisting of neutrophils", "endoarterial hypercellularity within arteriole consist of neutrophil" ] ], "xref": [], "is_a": [ "HP:0033922" ], "is_obsolete": "", "replace_id": "" }, "HP:0033925": { "name": [ "renal arteriole lymphocyte endoarterial hypercellularity", "renal arteriole lymphocyte endoarterial hypercellularity" ], "alt_id": [], "def": "A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen.", "synonym": [ [ "endoarterial hypercellularity within arterioles consisting of lymphocytes", "endoarterial hypercellularity within arteriole consist of lymphocyte" ] ], "xref": [], "is_a": [ "HP:0033922" ], "is_obsolete": "", "replace_id": "" }, "HP:0033926": { "name": [ "renal arteriole intimal / medial multilamellation", "renal arteriole intimal / medial multilamellation" ], "alt_id": [], "def": "Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney.", "synonym": [ [ "multilamellation ( onion skinning ) within renal arteriole intima / media", "multilamellation ( onion skin ) within renal arteriole intima / medium" ], [ "renal arteriole intima / media multilamellation", "renal arteriole intima / medium multilamellation" ], [ "renal arteriole intimal / medial onion skinning", "renal arteriole intimal / medial onion skin" ] ], "xref": [], "is_a": [ "HP:0033892" ], "is_obsolete": "", "replace_id": "" }, "HP:0033927": { "name": [ "arcuate artery endoarterial leukocyte hypercellularity", "arcuate artery endoarterial leukocyte hypercellularity" ], "alt_id": [], "def": "Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).", "synonym": [ [ "endoarterial hypercellularity within arcuate artery consisting of leukocytes", "endoarterial hypercellularity within arcuate artery consisting of leukocyte" ] ], "xref": [], "is_a": [ "HP:0033903" ], "is_obsolete": "", "replace_id": "" }, "HP:0033928": { "name": [ "arcuate artery endoarterial foam cell hypercellularity", "arcuate artery endoarterial foam cell hypercellularity" ], "alt_id": [], "def": "A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.", "synonym": [ [ "endoarterial hypercellularity within arcuate artery consisting of foam cells", "endoarterial hypercellularity within arcuate artery consisting of foam cell" ] ], "xref": [], "is_a": [ "HP:0033927" ], "is_obsolete": "", "replace_id": "" }, "HP:0033929": { "name": [ "arcuate artery endoarterial neutrophil hypercellularity", "arcuate artery endoarterial neutrophil hypercellularity" ], "alt_id": [], "def": "A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery.", "synonym": [ [ "endoarterial hypercellularity within arcuate artery consisting of neutrophils", "endoarterial hypercellularity within arcuate artery consisting of neutrophil" ] ], "xref": [], "is_a": [ "HP:0033927" ], "is_obsolete": "", "replace_id": "" }, "HP:0033930": { "name": [ "arcuate artery endoarterial lymphocyte hypercellularity", "arcuate artery endoarterial lymphocyte hypercellularity" ], "alt_id": [], "def": "A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery.", "synonym": [ [ "endoarterial hypercellularity within arcuate artery consisting of lymphocytes", "endoarterial hypercellularity within arcuate artery consisting of lymphocyte" ] ], "xref": [], "is_a": [ "HP:0033927" ], "is_obsolete": "", "replace_id": "" }, "HP:0033931": { "name": [ "arcuate artery intima / media necrosis", "arcuate artery intima / medium necrosis" ], "alt_id": [], "def": "Death of tissue in the inner or middle layer of the arcuate artery of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033886" ], "is_obsolete": "", "replace_id": "" }, "HP:0033932": { "name": [ "arcuate artery intima / media coagulative necrosis", "arcuate artery intima / medium coagulative necrosis" ], "alt_id": [], "def": "A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures.", "synonym": [ [ "coagulative necrosis within interlobular arterial intima / media", "coagulative necrosis within interlobular arterial intima / medium" ] ], "xref": [], "is_a": [ "HP:0033931" ], "is_obsolete": "", "replace_id": "" }, "HP:0033933": { "name": [ "arcuate artery intima / media liquefactive necrosis", "arcuate artery intima / medium liquefactive necrosis" ], "alt_id": [], "def": "A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.", "synonym": [ [ "liquefactive necrosis of the arcuate artery intima / media", "liquefactive necrosis of the arcuate artery intima / medium" ] ], "xref": [], "is_a": [ "HP:0033931" ], "is_obsolete": "", "replace_id": "" }, "HP:0033934": { "name": [ "arcuate vein intimal / medial storage material accumulation", "arcuate vein intimal / medial storage material accumulation" ], "alt_id": [], "def": "Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney.", "synonym": [ [ "multilamellation ( onion skinning ) within arteriolar intima / media", "multilamellation ( onion skin ) within arteriolar intima / medium" ], [ "renal arteriole intima / media onion skinning", "renal arteriole intima / medium onion skin" ] ], "xref": [], "is_a": [ "HP:0033879" ], "is_obsolete": "", "replace_id": "" }, "HP:0033935": { "name": [ "cortical radial artery intima / media necrosis", "cortical radial artery intima / medium necrosis" ], "alt_id": [], "def": "Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.", "synonym": [ [ "necrosis within interlobular arterial intima / media", "necrosis within interlobular arterial intima / medium" ] ], "xref": [], "is_a": [ "HP:0033888" ], "is_obsolete": "", "replace_id": "" }, "HP:0033936": { "name": [ "cortical radial artery intima / media liquefactive necrosis", "cortical radial artery intima / medium liquefactive necrosis" ], "alt_id": [], "def": "A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.", "synonym": [ [ "liquefactive necrosis within interlobular arterial intima / media", "liquefactive necrosis within interlobular arterial intima / medium" ] ], "xref": [], "is_a": [ "HP:0033935" ], "is_obsolete": "", "replace_id": "" }, "HP:0033937": { "name": [ "cortical radial artery intima / media coagulative necrosis", "cortical radial artery intima / medium coagulative necrosis" ], "alt_id": [], "def": "A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.", "synonym": [], "xref": [], "is_a": [ "HP:0033935" ], "is_obsolete": "", "replace_id": "" }, "HP:0033938": { "name": [ "renal arteriole intima / media necrosis", "renal arteriole intima / medium necrosis" ], "alt_id": [], "def": "Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033892" ], "is_obsolete": "", "replace_id": "" }, "HP:0033939": { "name": [ "renal arteriole intima / media liquefactive necrosis", "renal arteriole intima / medium liquefactive necrosis" ], "alt_id": [], "def": "A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.", "synonym": [ [ "liquefactive necrosis of the renal arteriolar intima / media", "liquefactive necrosis of the renal arteriolar intima / medium" ] ], "xref": [], "is_a": [ "HP:0033938" ], "is_obsolete": "", "replace_id": "" }, "HP:0033940": { "name": [ "renal arteriole intima / media coagulative necrosis", "renal arteriole intima / medium coagulative necrosis" ], "alt_id": [], "def": "A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.", "synonym": [], "xref": [], "is_a": [ "HP:0033938" ], "is_obsolete": "", "replace_id": "" }, "HP:0033941": { "name": [ "granulomatous arteriolitis of the arteriolar intima / media", "granulomatous arteriolitis of the arteriolar intima / medium" ], "alt_id": [], "def": "A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.", "synonym": [ [ "granulomatous arteriolitis within arteriolar intima / media", "granulomatous arteriolitis within arteriolar intima / medium" ] ], "xref": [], "is_a": [ "HP:0033906" ], "is_obsolete": "", "replace_id": "" }, "HP:0033942": { "name": [ "arcuate vein medial / intimal necrosis", "arcuate vein medial / intimal necrosis" ], "alt_id": [], "def": "Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney.", "synonym": [ [ "necrosis within arcuate vein intima / media", "necrosis within arcuate vein intima / medium" ] ], "xref": [], "is_a": [ "HP:0033879" ], "is_obsolete": "", "replace_id": "" }, "HP:0033943": { "name": [ "arcuate vein medial / intimal coagulative necrosis", "arcuate vein medial / intimal coagulative necrosis" ], "alt_id": [], "def": "A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.", "synonym": [ [ "coagulative necrosis within arcuate vein intima / media", "coagulative necrosis within arcuate vein intima / medium" ] ], "xref": [], "is_a": [ "HP:0033942" ], "is_obsolete": "", "replace_id": "" }, "HP:0033944": { "name": [ "arcuate vein medial / intimal liquefactive necrosis", "arcuate vein medial / intimal liquefactive necrosis" ], "alt_id": [], "def": "A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.", "synonym": [ [ "liquefactive necrosis within arcuate vein intima / media", "liquefactive necrosis within arcuate vein intima / medium" ] ], "xref": [], "is_a": [ "HP:0033942" ], "is_obsolete": "", "replace_id": "" }, "HP:0033945": { "name": [ "arcuate intimal / medial granulomatous venulitis", "arcuate intimal / medial granulomatous venulitis" ], "alt_id": [], "def": "A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.", "synonym": [], "xref": [], "is_a": [ "HP:0033917" ], "is_obsolete": "", "replace_id": "" }, "HP:0033946": { "name": [ "arcuate vein intima / media crystal accumulation", "arcuate vein intima / medium crystal accumulation" ], "alt_id": [], "def": "Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033879" ], "is_obsolete": "", "replace_id": "" }, "HP:0033947": { "name": [ "renal arteriole intima / media crystal accumulation", "renal arteriole intima / medium crystal accumulation" ], "alt_id": [], "def": "Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney.", "synonym": [ [ "accumulated crystals within renal arteriolar intima / media", "accumulate crystal within renal arteriolar intima / medium" ] ], "xref": [], "is_a": [ "HP:0033892" ], "is_obsolete": "", "replace_id": "" }, "HP:0033948": { "name": [ "arcuate artery intima / media arteriitis", "arcuate artery intima / medium arteriitis" ], "alt_id": [], "def": "Inflammation of the inner or middle layer of the arcuate arteries of the kidney.", "synonym": [ [ "arteritis within arcuate arterial intima / media", "arteritis within arcuate arterial intima / medium" ] ], "xref": [], "is_a": [ "HP:0033886" ], "is_obsolete": "", "replace_id": "" }, "HP:0033949": { "name": [ "arcuate artery intima / media granulomatous arteriitis", "arcuate artery intima / medium granulomatous arteriitis" ], "alt_id": [], "def": "A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.", "synonym": [ [ "granulomatous arteritis within arcuate arterial intima / media", "granulomatous arteritis within arcuate arterial intima / medium" ] ], "xref": [], "is_a": [ "HP:0033948" ], "is_obsolete": "", "replace_id": "" }, "HP:0033950": { "name": [ "cortical radial artery intraluminal thrombi", "cortical radial artery intraluminal thrombus" ], "alt_id": [], "def": "Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney.", "synonym": [ [ "intraluminal thrombi within interlobular arterial lumen", "intraluminal thrombus within interlobular arterial lumen" ] ], "xref": [], "is_a": [ "HP:0033884" ], "is_obsolete": "", "replace_id": "" }, "HP:0033951": { "name": [ "cortical radial artery intraluminal organized thrombi", "cortical radial artery intraluminal organize thrombus" ], "alt_id": [], "def": "Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney.", "synonym": [ [ "organized thrombi within interlobular arterial lumen", "organize thrombus within interlobular arterial lumen" ] ], "xref": [], "is_a": [ "HP:0033950" ], "is_obsolete": "", "replace_id": "" }, "HP:0033952": { "name": [ "abnormal cortical radial artery endothelium morphology", "abnormal cortical radial artery endothelium morphology" ], "alt_id": [], "def": "Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.", "synonym": [ [ "abnormalities of the interlobular arterial endothelium", "abnormality of the interlobular arterial endothelium" ] ], "xref": [], "is_a": [ "HP:0033883" ], "is_obsolete": "", "replace_id": "" }, "HP:0033953": { "name": [ "cortical radial artery endotheliosis", "cortical radial artery endotheliosis" ], "alt_id": [], "def": "Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling.", "synonym": [ [ "endotheliosis within interlobular arteries", "endotheliosis within interlobular artery" ] ], "xref": [], "is_a": [ "HP:0033952" ], "is_obsolete": "", "replace_id": "" }, "HP:0033954": { "name": [ "cortical radial artery hypercellularity", "cortical radial artery hypercellularity" ], "alt_id": [], "def": "Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.", "synonym": [ [ "endoarterial hypercellularity within interlobular artery", "endoarterial hypercellularity within interlobular artery" ] ], "xref": [], "is_a": [ "HP:0033952" ], "is_obsolete": "", "replace_id": "" }, "HP:0033955": { "name": [ "cortical radial artery leukocyte hypercellularity", "cortical radial artery leukocyte hypercellularity" ], "alt_id": [], "def": "A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).", "synonym": [ [ "endoarterial hypercellularity within interlobular artery consisting of leukocytes", "endoarterial hypercellularity within interlobular artery consisting of leukocyte" ] ], "xref": [], "is_a": [ "HP:0033954" ], "is_obsolete": "", "replace_id": "" }, "HP:0033956": { "name": [ "cortical radial artery lymphocyte hypercellularity", "cortical radial artery lymphocyte hypercellularity" ], "alt_id": [], "def": "A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries.", "synonym": [ [ "endoarterial hypercellularity within interlobular artery consisting of lymphocytes", "endoarterial hypercellularity within interlobular artery consisting of lymphocyte" ] ], "xref": [], "is_a": [ "HP:0033955" ], "is_obsolete": "", "replace_id": "" }, "HP:0033957": { "name": [ "cortical radial artery neutrophil hypercellularity", "cortical radial artery neutrophil hypercellularity" ], "alt_id": [], "def": "A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries.", "synonym": [ [ "endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophils", "endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophil" ] ], "xref": [], "is_a": [ "HP:0033955" ], "is_obsolete": "", "replace_id": "" }, "HP:0033958": { "name": [ "cortical radial artery foam cell hypercellularity", "cortical radial artery foam cell hypercellularity" ], "alt_id": [], "def": "A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney.", "synonym": [ [ "endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cells", "endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cell" ] ], "xref": [], "is_a": [ "HP:0033955" ], "is_obsolete": "", "replace_id": "" }, "HP:0033959": { "name": [ "cortical radial artery intima / media arteriosclerosis", "cortical radial artery intima / medium arteriosclerosis" ], "alt_id": [], "def": "Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina.", "synonym": [ [ "arteriosclerosis within interlobular arterial intima / media", "arteriosclerosis within interlobular arterial intima / medium" ] ], "xref": [], "is_a": [ "HP:0033888" ], "is_obsolete": "", "replace_id": "" }, "HP:0033960": { "name": [ "cortical radial artery intimal mucoid edema", "cortical radial artery intimal mucoid edema" ], "alt_id": [], "def": "Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.", "synonym": [ [ "intimal mucoid edema within interlobular arterial intima / media", "intimal mucoid edema within interlobular arterial intima / medium" ] ], "xref": [], "is_a": [ "HP:0033888" ], "is_obsolete": "", "replace_id": "" }, "HP:0033961": { "name": [ "cortical radial artery intima / media multilamellation", "cortical radial artery intima / medium multilamellation" ], "alt_id": [], "def": "Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers.", "synonym": [ [ "cortical radial artery intima / media onion skinning", "cortical radial artery intima / medium onion skin" ], [ "multilamellation ( onion skinning ) within interlobular arterial intima / media", "multilamellation ( onion skin ) within interlobular arterial intima / medium" ] ], "xref": [], "is_a": [ "HP:0033888" ], "is_obsolete": "", "replace_id": "" }, "HP:0033962": { "name": [ "cortical radial artery medial / intimal granulomatous arteriitis", "cortical radial artery medial / intimal granulomatous arteriitis" ], "alt_id": [], "def": "A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.", "synonym": [], "xref": [], "is_a": [ "HP:0033913" ], "is_obsolete": "", "replace_id": "" }, "HP:0033963": { "name": [ "abnormal interlobular vein intima / media morphology", "abnormal interlobular vein intima / medium morphology" ], "alt_id": [], "def": "Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney.", "synonym": [], "xref": [], "is_a": [ "HP:0033854" ], "is_obsolete": "", "replace_id": "" }, "HP:0033964": { "name": [ "interlobular intima / media venosclerosis", "interlobular intima / medium venosclerosis" ], "alt_id": [], "def": "Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney.", "synonym": [ [ "venosclerosis within interlobular vein intima / media", "venosclerosis within interlobular vein intima / medium" ] ], "xref": [], "is_a": [ "HP:0033963" ], "is_obsolete": "", "replace_id": "" }, "HP:0033965": { "name": [ "interlobular vein intimal mucoid edema", "interlobular vein intimal mucoid edema" ], "alt_id": [], "def": "Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.", "synonym": [ [ "intimal mucoid edema within interlobular veins", "intimal mucoid edema within interlobular vein" ] ], "xref": [], "is_a": [ "HP:0033963" ], "is_obsolete": "", "replace_id": "" }, "HP:0033966": { "name": [ "interlobular vein intima / media amyloidosis", "interlobular vein intima / medium amyloidosis" ], "alt_id": [], "def": "Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy", "synonym": [ [ "amyloidosis within interlobular vein intima / media", "amyloidosis within interlobular vein intima / medium" ] ], "xref": [], "is_a": [ "HP:0033963" ], "is_obsolete": "", "replace_id": "" }, "HP:0033967": { "name": [ "interlobular vein intima / media venulitis", "interlobular vein intima / medium venulitis" ], "alt_id": [], "def": "Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural.", "synonym": [ [ "venulitis within interlobular vein intima / media", "venulitis within interlobular vein intima / medium" ] ], "xref": [], "is_a": [ "HP:0033963" ], "is_obsolete": "", "replace_id": "" }, "HP:0033968": { "name": [ "interlobular vein intima / media granulomatous venulitis", "interlobular vein intima / medium granulomatous venulitis" ], "alt_id": [], "def": "A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.", "synonym": [ [ "granulomatous venulitis within interlobular vein intima / media", "granulomatous venulitis within interlobular vein intima / medium" ] ], "xref": [], "is_a": [ "HP:0033967" ], "is_obsolete": "", "replace_id": "" }, "HP:0033969": { "name": [ "interlobular vein intima / media necrosis", "interlobular vein intima / medium necrosis" ], "alt_id": [], "def": "Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney.", "synonym": [ [ "necrosis within interlobular vein intima / media", "necrosis within interlobular vein intima / medium" ] ], "xref": [], "is_a": [ "HP:0033963" ], "is_obsolete": "", "replace_id": "" }, "HP:0033970": { "name": [ "interlobular vein intima / media liquefactive necrosis", "interlobular vein intima / medium liquefactive necrosis" ], "alt_id": [], "def": "A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.", "synonym": [ [ "liquefactive necrosis within interlobular vein intima / media", "liquefactive necrosis within interlobular vein intima / medium" ] ], "xref": [], "is_a": [ "HP:0033969" ], "is_obsolete": "", "replace_id": "" }, "HP:0033971": { "name": [ "interlobular vein intima / media coagulative necrosis", "interlobular vein intima / medium coagulative necrosis" ], "alt_id": [], "def": "A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.", "synonym": [], "xref": [], "is_a": [ "HP:0033969" ], "is_obsolete": "", "replace_id": "" }, "HP:0033972": { "name": [ "interlobular vein medial atrophy", "interlobular vein medial atrophy" ], "alt_id": [], "def": "Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney.", "synonym": [ [ "medial atrophy within interlobular veins", "medial atrophy within interlobular vein" ] ], "xref": [], "is_a": [ "HP:0033963" ], "is_obsolete": "", "replace_id": "" }, "HP:0033973": { "name": [ "interlobular vein medial hypertrophy", "interlobular vein medial hypertrophy" ], "alt_id": [], "def": "Increased thickness of middle layer of the interlobular veins of the kidney.", "synonym": [ [ "medial hypertrophy within interlobular veins", "medial hypertrophy within interlobular vein" ] ], "xref": [], "is_a": [ "HP:0033963" ], "is_obsolete": "", "replace_id": "" }, "HP:0033974": { "name": [ "interlobular vein intima / media multilamellation", "interlobular vein intima / medium multilamellation" ], "alt_id": [], "def": "Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers.", "synonym": [ [ "interlobular vein intima / media onion skinning", "interlobular vein intima / medium onion skin" ], [ "multilamellation ( onion skinning ) within interlobular vein intima / media", "multilamellation ( onion skin ) within interlobular vein intima / medium" ] ], "xref": [], "is_a": [ "HP:0033963" ], "is_obsolete": "", "replace_id": "" }, "HP:0033975": { "name": [ "absent second fingernail", "absent second fingernail" ], "alt_id": [], "def": "Absence of the fingernail of the index (second) finger.", "synonym": [], "xref": [], "is_a": [ "HP:0001817" ], "is_obsolete": "", "replace_id": "" }, "HP:0033976": { "name": [ "volar fingernail", "volar fingernail" ], "alt_id": [], "def": "The presence of an extra nail on the palmar (volar, ventral) surface of the finger.", "synonym": [ [ "palmar fingernail", "palmar fingernail" ], [ "ventral fingernail", "ventral fingernail" ] ], "xref": [], "is_a": [ "HP:0001231" ], "is_obsolete": "", "replace_id": "" }, "HP:0033977": { "name": [ "talar aplasia", "talar aplasia" ], "alt_id": [], "def": "Absent talus owing to a congenital defect.", "synonym": [ [ "absent talus", "absent talus" ], [ "talus aplasia", "talus aplasia" ] ], "xref": [], "is_a": [ "HP:0008365" ], "is_obsolete": "", "replace_id": "" }, "HP:0033978": { "name": [ "reduced beta - hexosaminidase activity", "reduce beta - hexosaminidase activity" ], "alt_id": [], "def": "Diminished activity of the enzyme beta-hexosaminidase in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0033979": { "name": [ "excessive dynamic airway collapse", "excessive dynamic airway collapse" ], "alt_id": [], "def": "Excessive anterior displacement of the tracheal and/or bronchial membranous wall.", "synonym": [ [ "membranous tracheobronchomalacia", "membranous tracheobronchomalacia" ] ], "xref": [], "is_a": [ "HP:0002786" ], "is_obsolete": "", "replace_id": "" }, "HP:0033980": { "name": [ "paroxysmal tonic upgaze", "paroxysmal tonic upgaze" ], "alt_id": [], "def": "Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness.", "synonym": [], "xref": [], "is_a": [ "HP:0000496" ], "is_obsolete": "", "replace_id": "" }, "HP:0033981": { "name": [ "vertebral artery tortuosity", "vertebral artery tortuosity" ], "alt_id": [], "def": "Abnormal tortuous (i.e., twisted) form of the vertebral arteries.", "synonym": [ [ "tortuous vertebral arteries", "tortuous vertebral artery" ] ], "xref": [], "is_a": [ "HP:0005116", "HP:0030321" ], "is_obsolete": "", "replace_id": "" }, "HP:0033982": { "name": [ "celiac artery dissection", "celiac artery dissection" ], "alt_id": [], "def": "A separation (dissection) of the layers of the celiac artery wall.", "synonym": [], "xref": [], "is_a": [ "HP:0012326" ], "is_obsolete": "", "replace_id": "" }, "HP:0033983": { "name": [ "decreased circulating apolipoprotein c - ii concentration", "decrease circulate apolipoprotein c - ii concentration" ], "alt_id": [], "def": "Reduced concentration of apolipoprotein C-II in the blood circulation.", "synonym": [ [ "decreased plasma apolipoprotein c - ii", "decrease plasma apolipoprotein c - ii" ] ], "xref": [], "is_a": [ "HP:0033459" ], "is_obsolete": "", "replace_id": "" }, "HP:0033984": { "name": [ "increased urinary 8 - oxo - 7,8 - dihydroguanosine level", "increase urinary 8 - oxo - 7,8 - dihydroguanosine level" ], "alt_id": [], "def": "An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine.", "synonym": [ [ "increased urinary 8 - oxo - 7,8 - dihydroguanosine", "increase urinary 8 - oxo - 7,8 - dihydroguanosine" ], [ "increased urinary 8 - oxo - gsn level", "increase urinary 8 - oxo - gsn level" ], [ "increased urine 8 - oxo - 7,8 - dihydroguanosine", "increase urine 8 - oxo - 7,8 - dihydroguanosine" ], [ "increased urine 8 - oxo - gmp", "increase urine 8 - oxo - gmp" ] ], "xref": [], "is_a": [ "HP:0033161" ], "is_obsolete": "", "replace_id": "" }, "HP:0033985": { "name": [ "elongated femoral neck", "elongate femoral neck" ], "alt_id": [], "def": "Increased length of the neck of the femur.", "synonym": [ [ "long femoral neck", "long femoral neck" ] ], "xref": [], "is_a": [ "HP:0003367" ], "is_obsolete": "", "replace_id": "" }, "HP:0033986": { "name": [ "tortuous lymphatic vessels", "tortuous lymphatic vessel" ], "alt_id": [], "def": "The presence of an increased number of twists and turns of lymphatic vessels.", "synonym": [ [ "tortuous lymphatics", "tortuous lymphatics" ] ], "xref": [], "is_a": [ "HP:0100766" ], "is_obsolete": "", "replace_id": "" }, "HP:0033987": { "name": [ "phosphaturic mesenchymal tumor", "phosphaturic mesenchymal tumor" ], "alt_id": [], "def": "A rare, endocrine active tumor that causes severe renal phosphate wasting, which in turn can lead to critical osteomalacia. Phosphaturic mesenchymal tumors (PMTs) are typically small and mostly benign tumors producing fibroblast growth factor 23 (FGF-23). FGF-23 lowers the expression of sodium/phosphate cotransporters, which are the primary transport proteins responsible for phosphate reabsorption in the kidneys. The paraneoplastic overproduction of FGF-23 lowers reabsorption of phosphate and causes severe paraneoplastic renal phosphate wasting and hypophosphatemia. FGF-23 also affects vitamin D levels by lowering 25-hydroxyvitamin D 1-alpha-hydroxylase in the proximal renal tubules and by increasing the expression of vitamin D 24-hydroxylase, a mitochondrial enzyme responsible for inactivating vitamin D metabolites.", "synonym": [], "xref": [], "is_a": [ "HP:0031459" ], "is_obsolete": "", "replace_id": "" }, "HP:0033988": { "name": [ "amygdala microinfarct", "amygdala microinfarct" ], "alt_id": [], "def": "An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically.", "synonym": [], "xref": [], "is_a": [ "HP:0033668" ], "is_obsolete": "", "replace_id": "" }, "HP:0033989": { "name": [ "hippocampal microinfarct", "hippocampal microinfarct" ], "alt_id": [], "def": "An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically.", "synonym": [], "xref": [], "is_a": [ "HP:0025100" ], "is_obsolete": "", "replace_id": "" }, "HP:0033990": { "name": [ "cartilaginous tracheobronchomalacia", "cartilaginous tracheobronchomalacia" ], "alt_id": [], "def": "Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness.", "synonym": [ [ "cartilaginous malacia", "cartilaginous malacia" ] ], "xref": [], "is_a": [ "HP:0002786" ], "is_obsolete": "", "replace_id": "" }, "HP:0033991": { "name": [ "vasa previa", "vas previa" ], "alt_id": [], "def": "Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally.", "synonym": [], "xref": [], "is_a": [ "HP:0011418" ], "is_obsolete": "", "replace_id": "" }, "HP:0033992": { "name": [ "chronotropic incompetence", "chronotropic incompetence" ], "alt_id": [], "def": "Inability of the heart to increase its rate commensurate with increased activity or demand.", "synonym": [], "xref": [], "is_a": [ "HP:0011025" ], "is_obsolete": "", "replace_id": "" }, "HP:0033993": { "name": [ "viral encephalitis", "viral encephalitis" ], "alt_id": [], "def": "An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction.", "synonym": [], "xref": [], "is_a": [ "HP:0002383" ], "is_obsolete": "", "replace_id": "" }, "HP:0033994": { "name": [ "dependency on parenteral nutrition", "dependency on parenteral nutrition" ], "alt_id": [], "def": "Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition.", "synonym": [], "xref": [], "is_a": [ "HP:0011968" ], "is_obsolete": "", "replace_id": "" }, "HP:0033995": { "name": [ "microvillus inclusions", "microvillus inclusion" ], "alt_id": [], "def": "The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes.", "synonym": [], "xref": [], "is_a": [ "HP:0011472" ], "is_obsolete": "", "replace_id": "" }, "HP:0033996": { "name": [ "microvillar pas - positive secretory granules", "microvillar pa - positive secretory granule" ], "alt_id": [], "def": "The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures.", "synonym": [], "xref": [], "is_a": [ "HP:0011472" ], "is_obsolete": "", "replace_id": "" }, "HP:0033997": { "name": [ "perinuclear cardiomyocyte vacuolization", "perinuclear cardiomyocyte vacuolization" ], "alt_id": [], "def": "Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart.", "synonym": [], "xref": [], "is_a": [ "HP:0031331" ], "is_obsolete": "", "replace_id": "" }, "HP:0033998": { "name": [ "single - lobed right lung", "single - lobed right lung" ], "alt_id": [], "def": "A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes.", "synonym": [], "xref": [], "is_a": [ "HP:0002101" ], "is_obsolete": "", "replace_id": "" }, "HP:0033999": { "name": [ "bronchial hemorrhage", "bronchial hemorrhage" ], "alt_id": [], "def": "Bronchial hemorrhage is a focal bleeding located in the bronchial system. It can be diagnosed by tracheobronchoscopy.", "synonym": [ [ "bronchial bleeding", "bronchial bleeding" ] ], "xref": [], "is_a": [ "HP:0025426" ], "is_obsolete": "", "replace_id": "" }, "HP:0034000": { "name": [ "tracheal hemorrhage", "tracheal hemorrhage" ], "alt_id": [], "def": "Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy.", "synonym": [ [ "tracheal bleeding", "tracheal bleeding" ] ], "xref": [], "is_a": [ "HP:0002778" ], "is_obsolete": "", "replace_id": "" }, "HP:0034001": { "name": [ "anti - complement factor h antibody positivity", "anti - complement factor h antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H.", "synonym": [ [ "cfh autoantibodies", "cfh autoantibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0034002": { "name": [ "anti - phospholipase a2 receptor antibody positivity", "anti - phospholipase a2 receptor antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor.", "synonym": [ [ "anti - pla2r antibody positivity", "anti - pla2r antibody positivity" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0034003": { "name": [ "broad medial eyebrow", "broad medial eyebrow" ], "alt_id": [], "def": "Regional increase in the width (height) of the middle portion of the eyebrow.", "synonym": [ [ "medial broadening of eyebrows", "medial broadening of eyebrow" ] ], "xref": [], "is_a": [ "HP:0011229" ], "is_obsolete": "", "replace_id": "" }, "HP:0034004": { "name": [ "parosmia", "parosmia" ], "alt_id": [], "def": "Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli.", "synonym": [], "xref": [], "is_a": [ "HP:0004408" ], "is_obsolete": "", "replace_id": "" }, "HP:0034005": { "name": [ "decreased dendritic spine number", "decrease dendritic spine number" ], "alt_id": [], "def": "An abnormal reduction in the amount of spines on a given dendrite.", "synonym": [], "xref": [], "is_a": [ "HP:0500032" ], "is_obsolete": "", "replace_id": "" }, "HP:0034006": { "name": [ "decreased urinary lysyl - pyridinoline - hydroxylysyl - pyridinoline ratio", "decrease urinary lysyl - pyridinoline - hydroxylysyl - pyridinoline ratio" ], "alt_id": [], "def": "A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation.", "synonym": [], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0034007": { "name": [ "posterior atrophy of corpus callosum", "posterior atrophy of corpus callosum" ], "alt_id": [], "def": "The presence of atrophy (wasting) of the posterior portion of the corpus callosum.", "synonym": [], "xref": [], "is_a": [ "HP:0033725" ], "is_obsolete": "", "replace_id": "" }, "HP:0034008": { "name": [ "opto - chiasmatic atrophy", "opto - chiasmatic atrophy" ], "alt_id": [], "def": "Wasting (atrophy) of the optic chiasm.", "synonym": [], "xref": [], "is_a": [ "HP:0025163" ], "is_obsolete": "", "replace_id": "" }, "HP:0034009": { "name": [ "pelvic lipomatosis", "pelvic lipomatosis" ], "alt_id": [], "def": "Overgrowth of fat in the perivesical and perirectal area.", "synonym": [], "xref": [], "is_a": [ "HP:0001012" ], "is_obsolete": "", "replace_id": "" }, "HP:0034010": { "name": [ "increased megakaryocyte colony forming unit count", "increase megakaryocyte colony form unit count" ], "alt_id": [], "def": "Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow.", "synonym": [], "xref": [], "is_a": [ "HP:0012143" ], "is_obsolete": "", "replace_id": "" }, "HP:0034011": { "name": [ "reduced progressive sperm motility", "reduce progressive sperm motility" ], "alt_id": [], "def": "A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increaed proportion of sperm that move in tight circles or in some other non-linear fashion.", "synonym": [ [ "non - progressive sperm motility", "non - progressive sperm motility" ] ], "xref": [], "is_a": [ "HP:0012206" ], "is_obsolete": "", "replace_id": "" }, "HP:0034012": { "name": [ "palmoplantar hypohidrosis", "palmoplantar hypohidrosis" ], "alt_id": [], "def": "Decreased sweating on the palms and soles.", "synonym": [], "xref": [], "is_a": [ "HP:0000966" ], "is_obsolete": "", "replace_id": "" }, "HP:0034013": { "name": [ "curvilinear pericallosal lipoma", "curvilinear pericallosal lipoma" ], "alt_id": [], "def": "A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum.", "synonym": [], "xref": [], "is_a": [ "HP:0006931" ], "is_obsolete": "", "replace_id": "" }, "HP:0034014": { "name": [ "tubulonodular pericallosal lipoma", "tubulonodular pericallosal lipoma" ], "alt_id": [], "def": "A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles.", "synonym": [], "xref": [], "is_a": [ "HP:0006931" ], "is_obsolete": "", "replace_id": "" }, "HP:0034015": { "name": [ "cavitating pulmonary nodule", "cavitating pulmonary nodule" ], "alt_id": [], "def": "Thick-walled abnormal gas-filled interstitial nodule within a lung.", "synonym": [], "xref": [], "is_a": [ "HP:0033655" ], "is_obsolete": "", "replace_id": "" }, "HP:0034016": { "name": [ "anti - hla antibody positivity", "anti - hla antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA).", "synonym": [ [ "anti - human leukocyte antigen antibody positivity", "anti - human leukocyte antigen antibody positivity" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:0034017": { "name": [ "anti - class i hla antibody positivity", "anti - class i hla antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C).", "synonym": [], "xref": [], "is_a": [ "HP:0034016" ], "is_obsolete": "", "replace_id": "" }, "HP:0034018": { "name": [ "anti - class ii hla antibody positivity", "anti - class ii hla antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR).", "synonym": [], "xref": [], "is_a": [ "HP:0034016" ], "is_obsolete": "", "replace_id": "" }, "HP:0034019": { "name": [ "anti - hla - a antibody positivity", "anti - hla - a antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A).", "synonym": [], "xref": [], "is_a": [ "HP:0034017" ], "is_obsolete": "", "replace_id": "" }, "HP:0034020": { "name": [ "anti - hla - a igg1 antibody positivity", "anti - hla - a igg1 antibody positivity" ], "alt_id": [], "def": "The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).", "synonym": [], "xref": [], "is_a": [ "HP:0034019" ], "is_obsolete": "", "replace_id": "" }, "HP:0034021": { "name": [ "anti - hla - a igg3 antibody positivity", "anti - hla - a igg3 antibody positivity" ], "alt_id": [], "def": "The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).", "synonym": [], "xref": [], "is_a": [ "HP:0034019" ], "is_obsolete": "", "replace_id": "" }, "HP:0034022": { "name": [ "anti - hla - b antibody positivity", "anti - hla - b antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B).", "synonym": [], "xref": [], "is_a": [ "HP:0034017" ], "is_obsolete": "", "replace_id": "" }, "HP:0034023": { "name": [ "anti - hla - b igg1 antibody positivity", "anti - hla - b igg1 antibody positivity" ], "alt_id": [], "def": "The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).", "synonym": [], "xref": [], "is_a": [ "HP:0034022" ], "is_obsolete": "", "replace_id": "" }, "HP:0034024": { "name": [ "anti - hla - b igg3 antibody positivity", "anti - hla - b igg3 antibody positivity" ], "alt_id": [], "def": "The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).", "synonym": [], "xref": [], "is_a": [ "HP:0034022" ], "is_obsolete": "", "replace_id": "" }, "HP:0034025": { "name": [ "abnormal circulating gaba concentration", "abnormal circulate gaba concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation.", "synonym": [], "xref": [], "is_a": [ "HP:0033109" ], "is_obsolete": "", "replace_id": "" }, "HP:0034026": { "name": [ "elevated circulating sacchoropine concentration", "elevate circulate sacchoropine concentration" ], "alt_id": [], "def": "An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine.", "synonym": [], "xref": [], "is_a": [ "HP:0033109" ], "is_obsolete": "", "replace_id": "" }, "HP:0034027": { "name": [ "abnormal urinary non - proteinogenic amino acid level", "abnormal urinary non - proteinogenic amino acid level" ], "alt_id": [], "def": "Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.", "synonym": [], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0034028": { "name": [ "saccharopinuria", "saccharopinuria" ], "alt_id": [], "def": "Presence of saccharopine in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0034027" ], "is_obsolete": "", "replace_id": "" }, "HP:0034029": { "name": [ "hepatic foam cells", "hepatic foam cell" ], "alt_id": [], "def": "The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver.", "synonym": [], "xref": [], "is_a": [ "HP:0003651" ], "is_obsolete": "", "replace_id": "" }, "HP:0034030": { "name": [ "lip cyanosis", "lip cyanosis" ], "alt_id": [], "def": "Bluish discoloration of the lips.", "synonym": [ [ "bluish lips", "bluish lip" ], [ "cyanotic lips", "cyanotic lip" ], [ "labial cyanosis", "labial cyanosis" ] ], "xref": [], "is_a": [ "HP:0034031" ], "is_obsolete": "", "replace_id": "" }, "HP:0034031": { "name": [ "facial cyanosis", "facial cyanosis" ], "alt_id": [], "def": "Bluish discoloration of one or more regions of the face.", "synonym": [ [ "bluish face", "bluish face" ], [ "cyanotic face", "cyanotic face" ] ], "xref": [], "is_a": [ "HP:0034033" ], "is_obsolete": "", "replace_id": "" }, "HP:0034032": { "name": [ "central cyanosis", "central cyanosis" ], "alt_id": [], "def": "Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin.", "synonym": [], "xref": [], "is_a": [ "HP:0000961" ], "is_obsolete": "", "replace_id": "" }, "HP:0034033": { "name": [ "peripheral cyanosis", "peripheral cyanosis" ], "alt_id": [], "def": "Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved.", "synonym": [], "xref": [], "is_a": [ "HP:0000961" ], "is_obsolete": "", "replace_id": "" }, "HP:0034034": { "name": [ "differential cyanosis", "differential cyanosis" ], "alt_id": [], "def": "Differential degree of bluish discoloration between the upper and lower extremities.", "synonym": [], "xref": [], "is_a": [ "HP:0000961" ], "is_obsolete": "", "replace_id": "" }, "HP:0034035": { "name": [ "pharyngeal exudate", "pharyngeal exudate" ], "alt_id": [], "def": "Fluid exuded from the posterior wall of the pharynx.", "synonym": [ [ "fluid from the pharynx", "fluid from the pharynx" ], [ "pharyngeal fluid", "pharyngeal fluid" ] ], "xref": [], "is_a": [ "HP:0033151" ], "is_obsolete": "", "replace_id": "" }, "HP:0034036": { "name": [ "pseudo - chilblains on toes", "pseudo - chilblain on toe" ], "alt_id": [], "def": "Inflammatory chilblain-like nodules on the feet and/or toes.", "synonym": [ [ "chilblain - like toe lesions", "chilblain - like toe lesion" ], [ "chilblain - like toes", "chilblain - like toe" ], [ "covid toe", "covid toe" ] ], "xref": [], "is_a": [ "HP:0033696" ], "is_obsolete": "", "replace_id": "" }, "HP:0034037": { "name": [ "pseudo - chilblains on fingers", "pseudo - chilblain on finger" ], "alt_id": [], "def": "Inflammatory chilblain-like nodules on the hands and/or fingers.", "synonym": [ [ "covid finger", "covid finger" ], [ "covid fingers", "covid finger" ] ], "xref": [], "is_a": [ "HP:0033696" ], "is_obsolete": "", "replace_id": "" }, "HP:0034038": { "name": [ "silent hypoxemia", "silent hypoxemia" ], "alt_id": [], "def": "Abnormally low blood oxygen level without the presence of dyspnea.", "synonym": [], "xref": [], "is_a": [ "HP:0012418" ], "is_obsolete": "", "replace_id": "" }, "HP:0034039": { "name": [ "ventricular couplet", "ventricular couplet" ], "alt_id": [], "def": "Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats.", "synonym": [ [ "doublet premature ventricular contractions", "doublet premature ventricular contraction" ] ], "xref": [], "is_a": [ "HP:0034041" ], "is_obsolete": "", "replace_id": "" }, "HP:0034040": { "name": [ "bidirectional ventricular tachycardia", "bidirectional ventricular tachycardia" ], "alt_id": [], "def": "Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm.", "synonym": [], "xref": [], "is_a": [ "HP:0004756" ], "is_obsolete": "", "replace_id": "" }, "HP:0034041": { "name": [ "ventricular ectopy", "ventricular ectopy" ], "alt_id": [], "def": "Ventricular ectopics, also known as ventricular extrasystoles, premature ventricular contractions or complexes (PVC) and ventricular premature depolarisations (VPD) are beats arising from within the ventricles. When they occur in groupings such as bigeminy, trigeminy, couplets and triplets they are referred to as ventricular ectopy.", "synonym": [], "xref": [], "is_a": [ "HP:0006682" ], "is_obsolete": "", "replace_id": "" }, "HP:0034042": { "name": [ "dorsal hirsutism", "dorsal hirsutism" ], "alt_id": [], "def": "Abnormally increased hair growth in the lskin of the back.", "synonym": [], "xref": [], "is_a": [ "HP:0009889" ], "is_obsolete": "", "replace_id": "" }, "HP:0040004": { "name": [ "abnormality of corneal shape", "abnormality of corneal shape" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022500" ], "is_a": [ "HP:0000481" ], "is_obsolete": "", "replace_id": "" }, "HP:0040006": { "name": [ "mortality / aging", "mortality / age" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022499" ], "is_a": [ "HP:0031797" ], "is_obsolete": "", "replace_id": "" }, "HP:0040007": { "name": [ "absent pigmentation of chest", "absent pigmentation of chest" ], "alt_id": [], "def": "Lack of skin pigmentation (coloring) of the chest.", "synonym": [ [ "lack of skin coloring on chest", "lack of skin color on chest" ], [ "lack of skin colouring on chest", "lack of skin colour on chest" ] ], "xref": [ "UMLS:C4022498" ], "is_a": [ "HP:0200098" ], "is_obsolete": "", "replace_id": "" }, "HP:0040008": { "name": [ "aplasia of facial bones", "aplasia of facial bone" ], "alt_id": [], "def": "", "synonym": [ [ "absence of facial bones", "absence of facial bone" ], [ "agenesis of facial bones", "agenesis of facial bone" ], [ "aplasia of facial skeleton", "aplasia of facial skeleton" ], [ "failure of development of facial bones", "failure of development of facial bone" ], [ "failure of development of facial skeleton", "failure of development of facial skeleton" ], [ "missing facial bones", "miss facial bone" ] ], "xref": [ "UMLS:C1385254", "UMLS:C4022497", "UMLS:C4280300", "UMLS:C4280301" ], "is_a": [ "HP:0011821" ], "is_obsolete": "", "replace_id": "" }, "HP:0040009": { "name": [ "hyperparakeratosis", "hyperparakeratosis" ], "alt_id": [], "def": "Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.", "synonym": [], "xref": [ "SNOMEDCT_US:125554003", "UMLS:C1265968" ], "is_a": [ "HP:0000962", "HP:0001036" ], "is_obsolete": "", "replace_id": "" }, "HP:0040010": { "name": [ "small posterior fossa", "small posterior fossa" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022496" ], "is_a": [ "HP:0000932" ], "is_obsolete": "", "replace_id": "" }, "HP:0040011": { "name": [ "flat posterior fossa", "flat posterior fossa" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022495" ], "is_a": [ "HP:0000932" ], "is_obsolete": "", "replace_id": "" }, "HP:0040012": { "name": [ "chromosome breakage", "chromosome breakage" ], "alt_id": [], "def": "Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.", "synonym": [ [ "high frequency of chromosome breaks in lymphocytes", "high frequency of chromosome break in lymphocyte" ], [ "increased chromosomal breakage", "increase chromosomal breakage" ], [ "increased chromosomal breakage rate", "increase chromosomal breakage rate" ], [ "multiple chromosomal breaks", "multiple chromosomal break" ], [ "tendency to chromosomal breakage", "tendency to chromosomal breakage" ] ], "xref": [ "MSH:D019457", "UMLS:C0376628" ], "is_a": [ "HP:0003220" ], "is_obsolete": "", "replace_id": "" }, "HP:0040013": { "name": [ "decreased mitochondrial number", "decrease mitochondrial number" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022493" ], "is_a": [ "HP:0012102" ], "is_obsolete": "", "replace_id": "" }, "HP:0040014": { "name": [ "increased mitochondrial number", "increase mitochondrial number" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022492" ], "is_a": [ "HP:0012102" ], "is_obsolete": "", "replace_id": "" }, "HP:0040015": { "name": [ "increased activity of mitochondrial respiratory chain", "increased activity of mitochondrial respiratory chain" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022491" ], "is_a": [ "HP:0011922" ], "is_obsolete": "", "replace_id": "" }, "HP:0040016": { "name": [ "prominent coccyx", "prominent coccyx" ], "alt_id": [], "def": "", "synonym": [ [ "prominent tailbone", "prominent tailbone" ] ], "xref": [ "UMLS:C4022490" ], "is_a": [ "HP:0008519" ], "is_obsolete": "", "replace_id": "" }, "HP:0040017": { "name": [ "protruding coccyx", "protrude coccyx" ], "alt_id": [], "def": "", "synonym": [ [ "protruding tailbone", "protrude tailbone" ] ], "xref": [ "UMLS:C4022489" ], "is_a": [ "HP:0008519" ], "is_obsolete": "", "replace_id": "" }, "HP:0040018": { "name": [ "clinodactyly of hallux", "clinodactyly of hallux" ], "alt_id": [], "def": "", "synonym": [ [ "curvature of big toe", "curvature of big toe" ] ], "xref": [ "UMLS:C4022488", "UMLS:C4280299" ], "is_a": [ "HP:0001863", "HP:0010051" ], "is_obsolete": "", "replace_id": "" }, "HP:0040019": { "name": [ "finger clinodactyly", "finger clinodactyly" ], "alt_id": [], "def": "", "synonym": [ [ "curvature of finger", "curvature of finger" ] ], "xref": [ "SNOMEDCT_US:17268007", "UMLS:C0265610", "UMLS:C4280298" ], "is_a": [ "HP:0004097", "HP:0030084" ], "is_obsolete": "", "replace_id": "" }, "HP:0040020": { "name": [ "radial deviation of the 5th finger", "radial deviation of the 5th finger" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022487" ], "is_a": [ "HP:0009179", "HP:0009466" ], "is_obsolete": "", "replace_id": "" }, "HP:0040021": { "name": [ "radial deviation of the thumb", "radial deviation of the thumb" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C2168996" ], "is_a": [ "HP:0009466", "HP:0009603" ], "is_obsolete": "", "replace_id": "" }, "HP:0040022": { "name": [ "clinodactyly of the 2nd finger", "clinodactyly of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "curvature of index finger", "curvature of index finger" ], [ "second finger clinodactyly", "second finger clinodactyly" ] ], "xref": [ "UMLS:C4022486" ], "is_a": [ "HP:0009468", "HP:0040019" ], "is_obsolete": "", "replace_id": "" }, "HP:0040023": { "name": [ "clinodactyly of the thumb", "clinodactyly of the thumb" ], "alt_id": [], "def": "", "synonym": [ [ "curvature of thumb", "curvature of thumb" ] ], "xref": [ "UMLS:C1856888", "UMLS:C4280297" ], "is_a": [ "HP:0009603", "HP:0040019" ], "is_obsolete": "", "replace_id": "" }, "HP:0040024": { "name": [ "clinodactyly of the 3rd finger", "clinodactyly of the 3rd finger" ], "alt_id": [], "def": "", "synonym": [ [ "curvature of middle finger", "curvature of middle finger" ] ], "xref": [ "UMLS:C4022485", "UMLS:C4280296" ], "is_a": [ "HP:0009317", "HP:0040019" ], "is_obsolete": "", "replace_id": "" }, "HP:0040025": { "name": [ "clinodactyly of the 4th finger", "clinodactyly of the 4th finger" ], "alt_id": [], "def": "", "synonym": [ [ "curvature of ring finger", "curvature of ring finger" ] ], "xref": [ "UMLS:C4022484", "UMLS:C4280295" ], "is_a": [ "HP:0009273", "HP:0040019" ], "is_obsolete": "", "replace_id": "" }, "HP:0040030": { "name": [ "chorioretinal hypopigmentation", "chorioretinal hypopigmentation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022483" ], "is_a": [ "HP:0007661" ], "is_obsolete": "", "replace_id": "" }, "HP:0040031": { "name": [ "chorioretinal hyperpigmentation", "chorioretinal hyperpigmentation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022482" ], "is_a": [ "HP:0007661" ], "is_obsolete": "", "replace_id": "" }, "HP:0040032": { "name": [ "hypoplasia of the upper eyelids", "hypoplasia of the upper eyelid" ], "alt_id": [], "def": "", "synonym": [ [ "decreased size of upper eyelid", "decreased size of upper eyelid" ], [ "hypotrophic upper eyelid", "hypotrophic upper eyelid" ], [ "short upper eyelid", "short upper eyelid" ], [ "small upper eyelid", "small upper eyelid" ], [ "underdevelopment of upper eyelid", "underdevelopment of upper eyelid" ] ], "xref": [ "UMLS:C4022481" ], "is_a": [ "HP:0430009" ], "is_obsolete": "", "replace_id": "" }, "HP:0040033": { "name": [ "aplasia / hypoplasia of the fifth metatarsal bone", "aplasia / hypoplasia of the fifth metatarsal bone" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small 5th long bone of foot", "absent / small 5th long bone of foot" ], [ "absent / underdeveloped 5th long bone of foot", "absent / underdevelop 5th long bone of foot" ] ], "xref": [ "UMLS:C4022480" ], "is_a": [ "HP:0001964", "HP:0008089" ], "is_obsolete": "", "replace_id": "" }, "HP:0040034": { "name": [ "abnormality of the second metatarsal bone", "abnormality of the second metatarsal bone" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the 2nd long bone of foot", "abnormality of the 2nd long bone of foot" ] ], "xref": [ "UMLS:C4022479" ], "is_a": [ "HP:0001832" ], "is_obsolete": "", "replace_id": "" }, "HP:0040035": { "name": [ "abnormality of the fourth metatarsal bone", "abnormality of the fourth metatarsal bone" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the 4th long bone of foot", "abnormality of the 4th long bone of foot" ] ], "xref": [ "UMLS:C4022478" ], "is_a": [ "HP:0001832" ], "is_obsolete": "", "replace_id": "" }, "HP:0040036": { "name": [ "onychogryposis of fingernail", "onychogryposis of fingernail" ], "alt_id": [], "def": "Thickened fingernails.", "synonym": [ [ "overgrowth and curving of fingernail", "overgrowth and curving of fingernail" ] ], "xref": [ "UMLS:C4022477" ], "is_a": [ "HP:0001805" ], "is_obsolete": "", "replace_id": "" }, "HP:0040037": { "name": [ "obsolete thin fingernail ( obsolete )", "obsolete thin fingernail ( obsolete )" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0012742" }, "HP:0040038": { "name": [ "obsolete thin toenail", "obsolete thin toenail" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0012746" }, "HP:0040039": { "name": [ "onycholysis of fingernails", "onycholysis of fingernail" ], "alt_id": [], "def": "", "synonym": [ [ "detachment of fingernails", "detachment of fingernail" ], [ "onycholysis of fingernail", "onycholysis of fingernail" ] ], "xref": [ "UMLS:C3553044" ], "is_a": [ "HP:0001231", "HP:0001806" ], "is_obsolete": "", "replace_id": "" }, "HP:0040040": { "name": [ "toenail onycholysis", "toenail onycholysis" ], "alt_id": [], "def": "Painless and spontaneous separation of a toenail from the nail bed.", "synonym": [ [ "detachment of toenails", "detachment of toenail" ], [ "onycholysis of toenails", "onycholysis of toenail" ] ], "xref": [ "UMLS:C4022476" ], "is_a": [ "HP:0001806", "HP:0008388" ], "is_obsolete": "", "replace_id": "" }, "HP:0040042": { "name": [ "aplasia of the eccrine sweat glands", "aplasia of the eccrine sweat gland" ], "alt_id": [], "def": "", "synonym": [ [ "absent eccrine sweat glands", "absent eccrine sweat gland" ] ], "xref": [ "UMLS:C4022475" ], "is_a": [ "HP:0007592", "HP:0011136" ], "is_obsolete": "", "replace_id": "" }, "HP:0040043": { "name": [ "hypoplasia of the eccrine sweat glands", "hypoplasia of the eccrine sweat gland" ], "alt_id": [], "def": "", "synonym": [ [ "underdeveloped major sweat glands", "underdeveloped major sweat gland" ] ], "xref": [ "UMLS:C4022474" ], "is_a": [ "HP:0007387", "HP:0007592" ], "is_obsolete": "", "replace_id": "" }, "HP:0040044": { "name": [ "hypoplasia of the diaphragm", "hypoplasia of the diaphragm" ], "alt_id": [], "def": "", "synonym": [ [ "underdeveloped diaphragm", "underdeveloped diaphragm" ] ], "xref": [ "UMLS:C4022473" ], "is_a": [ "HP:0010315" ], "is_obsolete": "", "replace_id": "" }, "HP:0040045": { "name": [ "abnormal hemidiaphragm morphology", "abnormal hemidiaphragm morphology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the hemidiaphragms", "abnormality of the hemidiaphragms" ] ], "xref": [ "UMLS:C4022472" ], "is_a": [ "HP:0000775" ], "is_obsolete": "", "replace_id": "" }, "HP:0040046": { "name": [ "abnormal left hemidiaphragm morphology", "abnormal leave hemidiaphragm morphology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the left hemidiaphragm", "abnormality of the left hemidiaphragm" ] ], "xref": [ "UMLS:C4022471" ], "is_a": [ "HP:0040045" ], "is_obsolete": "", "replace_id": "" }, "HP:0040047": { "name": [ "abnormal right hemidiaphragm morphology", "abnormal right hemidiaphragm morphology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the right hemidiaphragm", "abnormality of the right hemidiaphragm" ] ], "xref": [ "UMLS:C4022470" ], "is_a": [ "HP:0040045" ], "is_obsolete": "", "replace_id": "" }, "HP:0040048": { "name": [ "obsolete aplasia of the left hemidiaphragm", "obsolete aplasia of the left hemidiaphragm" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0009112" }, "HP:0040049": { "name": [ "macular edema", "macular edema" ], "alt_id": [], "def": "Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease.", "synonym": [ [ "macular oedema", "macular oedema" ] ], "xref": [ "MSH:D008269", "SNOMEDCT_US:37231002", "UMLS:C0271051" ], "is_a": [ "HP:0000969", "HP:0030498" ], "is_obsolete": "", "replace_id": "" }, "HP:0040050": { "name": [ "sparse upper eyelashes", "sparse upper eyelash" ], "alt_id": [], "def": "", "synonym": [ [ "hypotrichosis of upper eyelashes", "hypotrichosis of upper eyelash" ], [ "partial absence of upper eyelashes", "partial absence of upper eyelash" ], [ "sparse upper eyelashes", "sparse upper eyelash" ] ], "xref": [ "UMLS:C4022468" ], "is_a": [ "HP:0000653", "HP:0040051" ], "is_obsolete": "", "replace_id": "" }, "HP:0040051": { "name": [ "abnormality of upper eyelashes", "abnormality of upper eyelash" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of upper eyelashes", "abnormality of upper eyelash" ] ], "xref": [ "UMLS:C4022467" ], "is_a": [ "HP:0000499" ], "is_obsolete": "", "replace_id": "" }, "HP:0040052": { "name": [ "abnormality of lower eyelashes", "abnormality of low eyelash" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of lower eyelashes", "abnormality of low eyelash" ] ], "xref": [ "UMLS:C4022466" ], "is_a": [ "HP:0000499" ], "is_obsolete": "", "replace_id": "" }, "HP:0040053": { "name": [ "long lower eyelashes", "long low eyelash" ], "alt_id": [], "def": "", "synonym": [ [ "ciliary trichomegaly of lower eyelashes", "ciliary trichomegaly of low eyelash" ], [ "increased length of lower eyelashes", "increased length of low eyelash" ], [ "long lower eyelashes", "long low eyelash" ] ], "xref": [ "UMLS:C4022465" ], "is_a": [ "HP:0000527", "HP:0040052" ], "is_obsolete": "", "replace_id": "" }, "HP:0040054": { "name": [ "short upper eyelashes", "short upper eyelash" ], "alt_id": [], "def": "", "synonym": [ [ "decreased length of upper eyelashes", "decreased length of upper eyelash" ], [ "short upper eyelashes", "short upper eyelash" ] ], "xref": [ "UMLS:C4022464" ], "is_a": [ "HP:0010764", "HP:0040051" ], "is_obsolete": "", "replace_id": "" }, "HP:0040055": { "name": [ "short lower eyelashes", "short low eyelash" ], "alt_id": [], "def": "", "synonym": [ [ "decreased length of lower eyelashes", "decreased length of low eyelash" ], [ "short lower eyelashes", "short low eyelash" ] ], "xref": [ "UMLS:C4022463" ], "is_a": [ "HP:0010764", "HP:0040052" ], "is_obsolete": "", "replace_id": "" }, "HP:0040056": { "name": [ "absent upper eyelashes", "absent upper eyelash" ], "alt_id": [], "def": "", "synonym": [ [ "absent upper eyelashes", "absent upper eyelash" ], [ "agenesis of upper eyelashes", "agenesis of upper eyelash" ], [ "aplasia of upper eyelashes", "aplasia of upper eyelash" ], [ "atrichia of upper eyelashes", "atrichia of upper eyelash" ], [ "failure of development of upper eyelashes", "failure of development of upper eyelash" ] ], "xref": [ "UMLS:C4022462", "UMLS:C4280255", "UMLS:C4280294" ], "is_a": [ "HP:0000561" ], "is_obsolete": "", "replace_id": "" }, "HP:0040057": { "name": [ "abnormality of nasal hair", "abnormality of nasal hair" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of nasal hair", "abnormality of nasal hair" ], [ "abnormality of nose hair", "abnormality of nose hair" ] ], "xref": [ "UMLS:C4021858" ], "is_a": [ "HP:0000366" ], "is_obsolete": "", "replace_id": "" }, "HP:0040059": { "name": [ "calcification of ribs", "calcification of rib" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022461" ], "is_a": [ "HP:0000772", "HP:0010766" ], "is_obsolete": "", "replace_id": "" }, "HP:0040061": { "name": [ "osteosclerosis of the radius", "osteosclerosis of the radius" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022460" ], "is_a": [ "HP:0002818", "HP:0003967" ], "is_obsolete": "", "replace_id": "" }, "HP:0040062": { "name": [ "slender radius", "slender radius" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1968813" ], "is_a": [ "HP:0003100", "HP:0003969", "HP:0045008" ], "is_obsolete": "", "replace_id": "" }, "HP:0040063": { "name": [ "decreased adipose tissue", "decrease adipose tissue" ], "alt_id": [], "def": "", "synonym": [ [ "decreased fat tissue", "decrease fat tissue" ] ], "xref": [ "UMLS:C4022459" ], "is_a": [ "HP:0009124" ], "is_obsolete": "", "replace_id": "" }, "HP:0040064": { "name": [ "abnormality of limbs", "abnormality of limb" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal limbs", "abnormal limb" ], [ "abnormality of limbs", "abnormality of limb" ], [ "dysmelia", "dysmelia" ], [ "limb anomaly", "limb anomaly" ] ], "xref": [ "SNOMEDCT_US:445144002", "UMLS:C0239337", "UMLS:C4073131" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0040065": { "name": [ "obsolete abnormal morphology of bones of the upper limbs", "obsolete abnormal morphology of bone of the upper limb" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0040070" }, "HP:0040066": { "name": [ "obsolete abnormal morphology of bones of the lower limbs", "obsolete abnormal morphology of bone of the low limb" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0040069" }, "HP:0040068": { "name": [ "abnormality of limb bone", "abnormality of limb bone" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of limb bone", "abnormality of limb bone" ] ], "xref": [ "UMLS:C4022456" ], "is_a": [ "HP:0000924", "HP:0040064" ], "is_obsolete": "", "replace_id": "" }, "HP:0040069": { "name": [ "abnormal lower limb bone morphology", "abnormal low limb bone morphology" ], "alt_id": [ "HP:0040066" ], "def": "", "synonym": [ [ "abnormal morphology of bones of the lower limbs", "abnormal morphology of bone of the low limb" ], [ "abnormal shape of bones of the lower limbs", "abnormal shape of bone of the low limb" ], [ "abnormality of lower limb bone", "abnormality of low limb bone" ] ], "xref": [ "UMLS:C4022455", "UMLS:C4022457" ], "is_a": [ "HP:0002813", "HP:0002814" ], "is_obsolete": "", "replace_id": "" }, "HP:0040070": { "name": [ "abnormal upper limb bone morphology", "abnormal upper limb bone morphology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal morphology of bones of the upper limbs", "abnormal morphology of bone of the upper limb" ], [ "abnormal shape of bones of the upper limbs", "abnormal shape of bone of the upper limb" ], [ "abnormality of upper limb bone", "abnormality of upper limb bone" ] ], "xref": [ "UMLS:C4022454", "UMLS:C4022458" ], "is_a": [ "HP:0002813", "HP:0002817" ], "is_obsolete": "", "replace_id": "" }, "HP:0040071": { "name": [ "abnormal morphology of ulna", "abnormal morphology of ulna" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022453" ], "is_a": [ "HP:0002997", "HP:0011314", "HP:0040073" ], "is_obsolete": "", "replace_id": "" }, "HP:0040072": { "name": [ "abnormality of forearm bone", "abnormality of forearm bone" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of forearm bone", "abnormality of forearm bone" ] ], "xref": [ "UMLS:C4022452" ], "is_a": [ "HP:0002973", "HP:0040070" ], "is_obsolete": "", "replace_id": "" }, "HP:0040073": { "name": [ "abnormal forearm bone morphology", "abnormal forearm bone morphology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal shape of of forearm bone", "abnormal shape of of forearm bone" ] ], "xref": [ "UMLS:C4022451" ], "is_a": [ "HP:0040072" ], "is_obsolete": "", "replace_id": "" }, "HP:0040075": { "name": [ "hypopituitarism", "hypopituitarism" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D007018", "SNOMEDCT_US:74728003", "UMLS:C0020635" ], "is_a": [ "HP:0011747" ], "is_obsolete": "", "replace_id": "" }, "HP:0040077": { "name": [ "obsolete abnormal concentration of calcium in blood", "obsolete abnormal concentration of calcium in blood" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0004363" }, "HP:0040078": { "name": [ "axonal degeneration", "axonal degeneration" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1837496" ], "is_a": [ "HP:0000764" ], "is_obsolete": "", "replace_id": "" }, "HP:0040079": { "name": [ "irregular dentition", "irregular dentition" ], "alt_id": [], "def": "", "synonym": [ [ "irregular teeth", "irregular teeth" ] ], "xref": [ "UMLS:C1856765" ], "is_a": [ "HP:0000164" ], "is_obsolete": "", "replace_id": "" }, "HP:0040080": { "name": [ "anteverted ears", "anteverted ear" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1857055" ], "is_a": [ "HP:0000357" ], "is_obsolete": "", "replace_id": "" }, "HP:0040081": { "name": [ "abnormal circulating creatine kinase concentration", "abnormal circulate creatine kinase concentration" ], "alt_id": [], "def": "Any deviation from the normal circulating creatine kinase concentration.", "synonym": [ [ "abnormal circulating ck concentration", "abnormal circulate ck concentration" ], [ "abnormal circulating cpk concentration", "abnormal circulate cpk concentration" ], [ "abnormal circulation phospho - ck concentration", "abnormal circulation phospho - ck concentration" ], [ "abnormal levels of creatine kinase in blood", "abnormal level of creatine kinase in blood" ] ], "xref": [ "UMLS:C4022449" ], "is_a": [ "HP:0011021" ], "is_obsolete": "", "replace_id": "" }, "HP:0040082": { "name": [ "happy demeanor", "happy demeanor" ], "alt_id": [], "def": "A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context.", "synonym": [ [ "happy demeanor", "happy demeanor" ], [ "happy demeanour", "happy demeanour" ] ], "xref": [ "UMLS:C1856115" ], "is_a": [ "HP:0100851" ], "is_obsolete": "", "replace_id": "" }, "HP:0040083": { "name": [ "toe walking", "toe walk" ], "alt_id": [], "def": "", "synonym": [ [ "toe walking", "toe walk" ], [ "toe - walking", "toe - walking" ] ], "xref": [ "SNOMEDCT_US:250018006", "UMLS:C0427144" ], "is_a": [ "HP:0001288" ], "is_obsolete": "", "replace_id": "" }, "HP:0040084": { "name": [ "abnormal circulating renin", "abnormal circulating renin" ], "alt_id": [], "def": "A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.", "synonym": [ [ "abnormal circulating renin", "abnormal circulating renin" ], [ "abnormal plasma renin", "abnormal plasma renin" ] ], "xref": [ "UMLS:C4021038" ], "is_a": [ "HP:0000847" ], "is_obsolete": "", "replace_id": "" }, "HP:0040085": { "name": [ "abnormal circulating aldosterone", "abnormal circulate aldosterone" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal circulating aldosterone", "abnormal circulate aldosterone" ], [ "abnormal plasma aldosterone", "abnormal plasma aldosterone" ] ], "xref": [ "UMLS:C0857898" ], "is_a": [ "HP:0000847" ], "is_obsolete": "", "replace_id": "" }, "HP:0040086": { "name": [ "abnormal prolactin level", "abnormal prolactin level" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal prolactin level", "abnormal prolactin level" ] ], "xref": [ "UMLS:C4022448" ], "is_a": [ "HP:0000830" ], "is_obsolete": "", "replace_id": "" }, "HP:0040087": { "name": [ "abnormal blood folate concentration", "abnormal blood folate concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of folate in the blood circulation.", "synonym": [ [ "abnormal serum folate", "abnormal serum folate" ], [ "abnormality of folate in blood", "abnormality of folate in blood" ] ], "xref": [ "UMLS:C4021037" ], "is_a": [ "HP:0012335" ], "is_obsolete": "", "replace_id": "" }, "HP:0040088": { "name": [ "abnormal lymphocyte count", "abnormal lymphocyte count" ], "alt_id": [], "def": "Any abnormality in the total number of lymphocytes in the blood.", "synonym": [ [ "abnormal lymphocyte count", "abnormal lymphocyte count" ], [ "abnormal lymphocyte counts", "abnormal lymphocyte count" ], [ "abnormal number of lymphocytes", "abnormal number of lymphocyte" ], [ "abnormal numbers of lymphocytes", "abnormal number of lymphocyte" ], [ "abnormality of lymphocyte number", "abnormality of lymphocyte number" ] ], "xref": [ "SNOMEDCT_US:165534000", "UMLS:C0580550" ], "is_a": [ "HP:0004332", "HP:0011893" ], "is_obsolete": "", "replace_id": "" }, "HP:0040089": { "name": [ "abnormal natural killer cell count", "abnormal natural killer cell count" ], "alt_id": [], "def": "Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.", "synonym": [ [ "abnormal natural killer cell count", "abnormal natural killer cell count" ], [ "abnormal nk cell count", "abnormal nk cell count" ], [ "abnormal number of natural killer cells", "abnormal number of natural killer cell" ], [ "abnormality of natural killer cell count", "abnormality of natural killer cell count" ] ], "xref": [ "UMLS:C4021036" ], "is_a": [ "HP:0012176" ], "is_obsolete": "", "replace_id": "" }, "HP:0040090": { "name": [ "abnormality of the tympanic membrane", "abnormality of the tympanic membrane" ], "alt_id": [], "def": "An abnormality of the tympanic membrane", "synonym": [ [ "abnormality of the eardrum", "abnormality of the eardrum" ] ], "xref": [ "UMLS:C4022447" ], "is_a": [ "HP:0000356", "HP:0000370" ], "is_obsolete": "", "replace_id": "" }, "HP:0040091": { "name": [ "asymmetry of the size of ears", "asymmetry of the size of ear" ], "alt_id": [], "def": "", "synonym": [ [ "asymmetry of the size of ears", "asymmetry of the size of ear" ] ], "xref": [ "UMLS:C4022446" ], "is_a": [ "HP:0010722" ], "is_obsolete": "", "replace_id": "" }, "HP:0040092": { "name": [ "asymmetry of the shape of the ears", "asymmetry of the shape of the ear" ], "alt_id": [], "def": "", "synonym": [ [ "asymmetry of the shape of the ears", "asymmetry of the shape of the ear" ] ], "xref": [ "UMLS:C4022445" ], "is_a": [ "HP:0010722" ], "is_obsolete": "", "replace_id": "" }, "HP:0040093": { "name": [ "asymmetry of the position of the ears", "asymmetry of the position of the ear" ], "alt_id": [], "def": "", "synonym": [ [ "uneven ears", "uneven ear" ] ], "xref": [ "UMLS:C4022444" ], "is_a": [ "HP:0010722" ], "is_obsolete": "", "replace_id": "" }, "HP:0040095": { "name": [ "neoplasm of the outer ear", "neoplasm of the outer ear" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the outer ear.", "synonym": [ [ "outer ear tumor", "outer ear tumor" ], [ "outer ear tumour", "outer ear tumour" ] ], "xref": [ "NCIT:C3262", "UMLS:C4022443" ], "is_a": [ "HP:0000356", "HP:0012780" ], "is_obsolete": "", "replace_id": "" }, "HP:0040096": { "name": [ "neoplasm of the inner ear", "neoplasm of the inner ear" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the inner ear.", "synonym": [ [ "inner ear tumor", "inner ear tumor" ], [ "inner ear tumour", "inner ear tumour" ] ], "xref": [ "NCIT:C3262", "UMLS:C1512779" ], "is_a": [ "HP:0000359", "HP:0012780" ], "is_obsolete": "", "replace_id": "" }, "HP:0040097": { "name": [ "neoplasm of the ceruminal gland", "neoplasm of the ceruminal gland" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the ceruminal gland.", "synonym": [ [ "adenoma of the ceruminous gland", "adenoma of the ceruminous gland" ], [ "ceruminoma", "ceruminoma" ], [ "ceruminous adenoma", "ceruminous adenoma" ] ], "xref": [ "NCIT:C3262", "SNOMEDCT_US:403945001", "SNOMEDCT_US:52707009", "UMLS:C0334352" ], "is_a": [ "HP:0040095" ], "is_obsolete": "", "replace_id": "" }, "HP:0040098": { "name": [ "basalioma of the outer ear", "basalioma of the outer ear" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022442" ], "is_a": [ "HP:0002671", "HP:0040095" ], "is_obsolete": "", "replace_id": "" }, "HP:0040099": { "name": [ "abnormality of the round window", "abnormality of the round window" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022441" ], "is_a": [ "HP:0000359", "HP:0000370" ], "is_obsolete": "", "replace_id": "" }, "HP:0040100": { "name": [ "abnormality of the vestibular window", "abnormality of the vestibular window" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the oval window", "abnormality of the oval window" ] ], "xref": [ "UMLS:C4021035" ], "is_a": [ "HP:0000359", "HP:0000370" ], "is_obsolete": "", "replace_id": "" }, "HP:0040101": { "name": [ "cutaneous atresia of the external auditory canal", "cutaneous atresia of the external auditory canal" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022440" ], "is_a": [ "HP:0000413" ], "is_obsolete": "", "replace_id": "" }, "HP:0040102": { "name": [ "osseous atresia of the external auditory canal", "osseous atresia of the external auditory canal" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022439" ], "is_a": [ "HP:0000413" ], "is_obsolete": "", "replace_id": "" }, "HP:0040103": { "name": [ "cutaneous stenosis of the external auditory canal", "cutaneous stenosis of the external auditory canal" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022438" ], "is_a": [ "HP:0000402" ], "is_obsolete": "", "replace_id": "" }, "HP:0040104": { "name": [ "osseous stenosis of the external auditory canal", "osseous stenosis of the external auditory canal" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022437" ], "is_a": [ "HP:0000402" ], "is_obsolete": "", "replace_id": "" }, "HP:0040106": { "name": [ "morphological abnormality of the lateral semicircular canal", "morphological abnormality of the lateral semicircular canal" ], "alt_id": [], "def": "", "synonym": [ [ "morphological abnormality of the horizontal semicircular canal", "morphological abnormality of the horizontal semicircular canal" ] ], "xref": [ "UMLS:C4021034" ], "is_a": [ "HP:0011380" ], "is_obsolete": "", "replace_id": "" }, "HP:0040107": { "name": [ "morphological abnormality of the posterior semicircular canal", "morphological abnormality of the posterior semicircular canal" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022436" ], "is_a": [ "HP:0011380" ], "is_obsolete": "", "replace_id": "" }, "HP:0040108": { "name": [ "morphological abnormality of the anterior semicircular canal", "morphological abnormality of the anterior semicircular canal" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022435" ], "is_a": [ "HP:0011380" ], "is_obsolete": "", "replace_id": "" }, "HP:0040109": { "name": [ "morphological abnormality of the utricle", "morphological abnormality of the utricle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022434" ], "is_a": [ "HP:0011380" ], "is_obsolete": "", "replace_id": "" }, "HP:0040110": { "name": [ "morphological abnormality of the saccule", "morphological abnormality of the saccule" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022433" ], "is_a": [ "HP:0011380" ], "is_obsolete": "", "replace_id": "" }, "HP:0040111": { "name": [ "bilateral external ear deformity", "bilateral external ear deformity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022432" ], "is_a": [ "HP:0000356" ], "is_obsolete": "", "replace_id": "" }, "HP:0040112": { "name": [ "abnormal number of tubercles", "abnormal number of tubercle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022431" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0040113": { "name": [ "old - aged sensorineural hearing impairment", "old - age sensorineural hearing impairment" ], "alt_id": [], "def": "", "synonym": [ [ "presbycusis", "presbycusis" ] ], "xref": [ "MSH:D011304", "SNOMEDCT_US:49526009", "UMLS:C0033074" ], "is_a": [ "HP:0000407" ], "is_obsolete": "", "replace_id": "" }, "HP:0040114": { "name": [ "absence of the reflex of the tensor tympani muscle", "absence of the reflex of the tensor tympani muscle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022430" ], "is_a": [ "HP:0040120" ], "is_obsolete": "", "replace_id": "" }, "HP:0040115": { "name": [ "abnormality of the eustachian tube", "abnormality of the eustachian tube" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:204250005", "UMLS:C0262475" ], "is_a": [ "HP:0000370" ], "is_obsolete": "", "replace_id": "" }, "HP:0040116": { "name": [ "aplasia of the eustachian tube", "aplasia of the eustachian tube" ], "alt_id": [], "def": "", "synonym": [ [ "absent eustachian tube", "absent eustachian tube" ] ], "xref": [ "SNOMEDCT_US:75231006", "UMLS:C0266616" ], "is_a": [ "HP:0040115" ], "is_obsolete": "", "replace_id": "" }, "HP:0040117": { "name": [ "atresia of the eustachian tube", "atresia of the eustachian tube" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1388953" ], "is_a": [ "HP:0040115" ], "is_obsolete": "", "replace_id": "" }, "HP:0040118": { "name": [ "stenosis of the eustachian tube", "stenosis of the eustachian tube" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:80101003", "UMLS:C0271469" ], "is_a": [ "HP:0040115" ], "is_obsolete": "", "replace_id": "" }, "HP:0040119": { "name": [ "unilateral conductive hearing impairment", "unilateral conductive hearing impairment" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022428" ], "is_a": [ "HP:0000405" ], "is_obsolete": "", "replace_id": "" }, "HP:0040120": { "name": [ "abnormality of the reflex of the tensor tympani muscle", "abnormality of the reflex of the tensor tympani muscle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022427" ], "is_a": [ "HP:0004454" ], "is_obsolete": "", "replace_id": "" }, "HP:0040121": { "name": [ "abnormality of the acoustic reflex", "abnormality of the acoustic reflex" ], "alt_id": [], "def": "An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.", "synonym": [ [ "abnormal auditory reflex", "abnormal auditory reflex" ], [ "abnormal middle - ear - muscles ( mem ) reflex", "abnormal middle - ear - muscle ( mem ) reflex" ], [ "abnormality of stapedial reflex", "abnormality of stapedial reflex" ] ], "xref": [ "UMLS:C4022426" ], "is_a": [ "HP:0004454" ], "is_obsolete": "", "replace_id": "" }, "HP:0040122": { "name": [ "impairment of the the acoustic reflex", "impairment of the the acoustic reflex" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022425" ], "is_a": [ "HP:0040121" ], "is_obsolete": "", "replace_id": "" }, "HP:0040123": { "name": [ "impairment of the reflex of the tensor tympani muscle", "impairment of the reflex of the tensor tympani muscle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022424" ], "is_a": [ "HP:0040120" ], "is_obsolete": "", "replace_id": "" }, "HP:0040124": { "name": [ "patent tuba eustachii", "patent tuba eustachii" ], "alt_id": [], "def": "", "synonym": [ [ "open tuba eustachii", "open tuba eustachii" ] ], "xref": [ "UMLS:C4021033" ], "is_a": [ "HP:0040115" ], "is_obsolete": "", "replace_id": "" }, "HP:0040126": { "name": [ "abnormal vitamin b12 level", "abnormal vitamin b12 level" ], "alt_id": [], "def": "A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins.", "synonym": [ [ "abnormal serum cobalamin level", "abnormal serum cobalamin level" ] ], "xref": [ "UMLS:C4021032" ], "is_a": [ "HP:0004341" ], "is_obsolete": "", "replace_id": "" }, "HP:0040127": { "name": [ "abnormal sweat homeostasis", "abnormal sweat homeostasis" ], "alt_id": [], "def": "An abnormality of the composition of sweat or the levels of its components.", "synonym": [], "xref": [ "UMLS:C4022423" ], "is_a": [ "HP:0012337" ], "is_obsolete": "", "replace_id": "" }, "HP:0040128": { "name": [ "abnormal sweat electrolytes", "abnormal sweat electrolyte" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022422" ], "is_a": [ "HP:0040127" ], "is_obsolete": "", "replace_id": "" }, "HP:0040129": { "name": [ "abnormal nerve conduction velocity", "abnormal nerve conduction velocity" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal nerve conduction", "abnormal nerve conduction" ], [ "abnormal nerve conduction velocities", "abnormal nerve conduction velocity" ], [ "nerve conduction abnormalities", "nerve conduction abnormality" ] ], "xref": [ "UMLS:C1866772" ], "is_a": [ "HP:0003134" ], "is_obsolete": "", "replace_id": "" }, "HP:0040130": { "name": [ "abnormal serum iron concentration", "abnormal serum iron concentration" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C0235760" ], "is_a": [ "HP:0011031" ], "is_obsolete": "", "replace_id": "" }, "HP:0040131": { "name": [ "abnormal motor nerve conduction velocity", "abnormal motor nerve conduction velocity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021031" ], "is_a": [ "HP:0040129" ], "is_obsolete": "", "replace_id": "" }, "HP:0040132": { "name": [ "abnormal sensory nerve conduction velocity", "abnormal sensory nerve conduction velocity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022421" ], "is_a": [ "HP:0040129" ], "is_obsolete": "", "replace_id": "" }, "HP:0040133": { "name": [ "abnormal circulating ferritin concentration", "abnormal circulate ferritin concentration" ], "alt_id": [], "def": "A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.", "synonym": [ [ "abnormal plasma ferritin", "abnormal plasma ferritin" ], [ "abnormal serum ferritin", "abnormal serum ferritin" ] ], "xref": [ "UMLS:C0853228" ], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0040134": { "name": [ "abnormal hepatic iron concentration", "abnormal hepatic iron concentration" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal liver iron concentration", "abnormal liver iron concentration" ], [ "abnormal liver iron level", "abnormal liver iron level" ] ], "xref": [ "UMLS:C4022420" ], "is_a": [ "HP:0032243", "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0040135": { "name": [ "abnormal transferrin saturation", "abnormal transferrin saturation" ], "alt_id": [], "def": "Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.", "synonym": [], "xref": [ "UMLS:C4022419" ], "is_a": [ "HP:0011031" ], "is_obsolete": "", "replace_id": "" }, "HP:0040137": { "name": [ "comedonal acne", "comedonal acne" ], "alt_id": [], "def": "A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.", "synonym": [ [ "comedogenic acne", "comedogenic acne" ] ], "xref": [ "UMLS:C4022418" ], "is_a": [ "HP:0001061" ], "is_obsolete": "", "replace_id": "" }, "HP:0040138": { "name": [ "mucinous histiocytosis", "mucinous histiocytosis" ], "alt_id": [], "def": "Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone.", "synonym": [ [ "histiocytosis , mucinous", "histiocytosis , mucinous" ] ], "xref": [ "SNOMEDCT_US:87412005", "UMLS:C0334126" ], "is_a": [ "HP:0100727" ], "is_obsolete": "", "replace_id": "" }, "HP:0040139": { "name": [ "lipogranulomatosis", "lipogranulomatosis" ], "alt_id": [], "def": "Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions.", "synonym": [], "xref": [ "SNOMEDCT_US:189099001", "SNOMEDCT_US:36279001", "SNOMEDCT_US:416439000", "UMLS:C1704214" ], "is_a": [ "HP:0002955", "HP:0004356" ], "is_obsolete": "", "replace_id": "" }, "HP:0040140": { "name": [ "degeneration of the striatum", "degeneration of the striatum" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022417" ], "is_a": [ "HP:0002180", "HP:0010994" ], "is_obsolete": "", "replace_id": "" }, "HP:0040141": { "name": [ "tardive dyskinesia", "tardive dyskinesia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D000071057", "UMLS:C0686347" ], "is_a": [ "HP:0100660" ], "is_obsolete": "", "replace_id": "" }, "HP:0040142": { "name": [ "reduced 5 - oxoprolinase level", "reduce 5 - oxoprolinase level" ], "alt_id": [], "def": "Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.", "synonym": [ [ "5 - oxoprolinase deficiency", "5 - oxoprolinase deficiency" ] ], "xref": [ "MSH:C535322", "SNOMEDCT_US:26132002", "UMLS:C0268525" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0040143": { "name": [ "dystopic os odontoideum", "dystopic o odontoideum" ], "alt_id": [], "def": "Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus", "synonym": [], "xref": [ "UMLS:C3552843" ], "is_a": [ "HP:0005667" ], "is_obsolete": "", "replace_id": "" }, "HP:0040144": { "name": [ "l - 2 - hydroxyglutaric aciduria", "l - 2 - hydroxyglutaric aciduria" ], "alt_id": [], "def": "An increase in the level of L-2-hydroxyglutaric acid in the urine.", "synonym": [], "xref": [ "SNOMEDCT_US:237961001", "UMLS:C1855995" ], "is_a": [ "HP:0032278" ], "is_obsolete": "", "replace_id": "" }, "HP:0040145": { "name": [ "dicarboxylic acidemia", "dicarboxylic acidemia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022416" ], "is_a": [ "HP:0010995", "HP:0032368" ], "is_obsolete": "", "replace_id": "" }, "HP:0040146": { "name": [ "d - 2 - hydroxyglutaric acidemia", "d - 2 - hydroxyglutaric acidemia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022415" ], "is_a": [ "HP:0040145" ], "is_obsolete": "", "replace_id": "" }, "HP:0040147": { "name": [ "l - 2 - hydroxyglutaric acidemia", "l - 2 - hydroxyglutaric acidemia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3888081" ], "is_a": [ "HP:0040145" ], "is_obsolete": "", "replace_id": "" }, "HP:0040148": { "name": [ "cortical myoclonus", "cortical myoclonus" ], "alt_id": [], "def": "Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic).", "synonym": [], "xref": [ "SNOMEDCT_US:698835006", "UMLS:C3698239" ], "is_a": [ "HP:0001336" ], "is_obsolete": "", "replace_id": "" }, "HP:0040149": { "name": [ "woolly scalp hair", "woolly scalp hair" ], "alt_id": [], "def": "The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.", "synonym": [ [ "afro - textured scalp hair", "afro - textured scalp hair" ], [ "kinky scalp hair texture", "kinky scalp hair texture" ], [ "nappy scalp hair texture", "nappy scalp hair texture" ], [ "wooly scalp hair", "wooly scalp hair" ] ], "xref": [ "UMLS:C4015203", "UMLS:C4280291", "UMLS:C4280292", "UMLS:C4280293" ], "is_a": [ "HP:0002224" ], "is_obsolete": "", "replace_id": "" }, "HP:0040150": { "name": [ "epiblepharon of upper lid", "epiblepharon of upper lid" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C565051", "UMLS:C1851582" ], "is_a": [ "HP:0011225" ], "is_obsolete": "", "replace_id": "" }, "HP:0040151": { "name": [ "epiblepharon of lower lid", "epiblepharon of low lid" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:C565051", "UMLS:C1851583" ], "is_a": [ "HP:0011225" ], "is_obsolete": "", "replace_id": "" }, "HP:0040154": { "name": [ "acne inversa", "acne inversa" ], "alt_id": [], "def": "A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.", "synonym": [ [ "hidradenitis suppurativa", "hidradenitis suppurativa" ], [ "pyoderma fistulans significa", "pyoderma fistulans significa" ], [ "smoker 's boils", "smoker 's boil" ], [ "verneuil 's disease", "verneuil 's disease" ] ], "xref": [ "MSH:D017497", "SNOMEDCT_US:59393003", "UMLS:C0162836" ], "is_a": [ "HP:0001061" ], "is_obsolete": "", "replace_id": "" }, "HP:0040155": { "name": [ "elevated urinary 3 - hydroxybutyric acid", "elevate urinary 3 - hydroxybutyric acid" ], "alt_id": [], "def": "An increased amount of 3-hydroxybutyric acid in the urine.", "synonym": [], "xref": [ "UMLS:C4022414" ], "is_a": [ "HP:0033303" ], "is_obsolete": "", "replace_id": "" }, "HP:0040156": { "name": [ "elevated urinary carboxylic acid", "elevate urinary carboxylic acid" ], "alt_id": [], "def": "An increased amount of carboxylic acid in the urine.", "synonym": [], "xref": [ "UMLS:C4022413" ], "is_a": [ "HP:0001992", "HP:0031980" ], "is_obsolete": "", "replace_id": "" }, "HP:0040157": { "name": [ "abnormal intermamillary distance", "abnormal intermamillary distance" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022412" ], "is_a": [ "HP:0004404" ], "is_obsolete": "", "replace_id": "" }, "HP:0040158": { "name": [ "short intermamillary distance", "short intermamillary distance" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022411" ], "is_a": [ "HP:0040157" ], "is_obsolete": "", "replace_id": "" }, "HP:0040159": { "name": [ "abnormal spaced incisors", "abnormal space incisor" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal spaced incisors", "abnormal space incisor" ], [ "abnormality of spacing of front teeth", "abnormality of spacing of front teeth" ], [ "abnormality of spacing of incisors", "abnormality of spacing of incisor" ] ], "xref": [ "UMLS:C4022410" ], "is_a": [ "HP:0011062" ], "is_obsolete": "", "replace_id": "" }, "HP:0040160": { "name": [ "generalized osteoporosis", "generalize osteoporosis" ], "alt_id": [ "HP:0005744" ], "def": "", "synonym": [ [ "generalised osteoporosis", "generalise osteoporosis" ], [ "generalised osteoporosis with pathologic fractures", "generalise osteoporosis with pathologic fracture" ], [ "generalized osteoporosis with pathologic fractures", "generalize osteoporosis with pathologic fracture" ] ], "xref": [ "MSH:D010024", "SNOMEDCT_US:64859006", "UMLS:C0029456", "UMLS:C3805887" ], "is_a": [ "HP:0000939" ], "is_obsolete": "", "replace_id": "" }, "HP:0040161": { "name": [ "localized osteoporosis", "localize osteoporosis" ], "alt_id": [], "def": "", "synonym": [ [ "localised osteoporosis", "localise osteoporosis" ] ], "xref": [ "UMLS:C1398367" ], "is_a": [ "HP:0000939" ], "is_obsolete": "", "replace_id": "" }, "HP:0040162": { "name": [ "orthokeratosis", "orthokeratosis" ], "alt_id": [], "def": "Formation of an anuclear keratin layer", "synonym": [], "xref": [ "SNOMEDCT_US:708474007", "UMLS:C1843359" ], "is_a": [ "HP:0011368" ], "is_obsolete": "", "replace_id": "" }, "HP:0040163": { "name": [ "abnormal pelvis bone morphology", "abnormal pelvis bone morphology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal shape of pelvis bone", "abnormal shape of pelvis bone" ] ], "xref": [ "UMLS:C4073132" ], "is_a": [ "HP:0002644" ], "is_obsolete": "", "replace_id": "" }, "HP:0040164": { "name": [ "lipomas of eyelids", "lipoma of eyelid" ], "alt_id": [], "def": "Fatty tumors on the eyelids.", "synonym": [ [ "fatty tumors on the eyelids", "fatty tumor on the eyelid" ], [ "fatty tumours on the eyelids", "fatty tumour on the eyelid" ] ], "xref": [ "UMLS:C4073133" ], "is_a": [ "HP:0000492", "HP:0012032" ], "is_obsolete": "", "replace_id": "" }, "HP:0040165": { "name": [ "periostitis", "periostitis" ], "alt_id": [], "def": "Inflammation of the periosteum", "synonym": [ [ "periostalgia", "periostalgia" ] ], "xref": [ "MSH:D010522", "SNOMEDCT_US:41910004", "UMLS:C0031111" ], "is_a": [ "HP:0030313" ], "is_obsolete": "", "replace_id": "" }, "HP:0040166": { "name": [ "abnormality of the periosteum", "abnormality of the periosteum" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073134" ], "is_a": [ "HP:0000924" ], "is_obsolete": "", "replace_id": "" }, "HP:0040167": { "name": [ "facial papilloma", "facial papilloma" ], "alt_id": [], "def": "", "synonym": [ [ "facial verruca", "facial verruca" ], [ "facial wart", "facial wart" ] ], "xref": [ "SNOMEDCT_US:240533004", "UMLS:C0343643" ], "is_a": [ "HP:0011799", "HP:0012740" ], "is_obsolete": "", "replace_id": "" }, "HP:0040168": { "name": [ "obsolete focal seizures , afebril", "obsolete focal seizure , afebril" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0007359" }, "HP:0040169": { "name": [ "loose anagen hair", "loose anagen hair" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3554793" ], "is_a": [ "HP:0040170" ], "is_obsolete": "", "replace_id": "" }, "HP:0040170": { "name": [ "abnormality of hair growth", "abnormality of hair growth" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073136" ], "is_a": [ "HP:0001595" ], "is_obsolete": "", "replace_id": "" }, "HP:0040171": { "name": [ "decreased serum testosterone concentration", "decrease serum testosterone concentration" ], "alt_id": [ "HP:0008230" ], "def": "", "synonym": [ [ "decreased serum testosterone level", "decrease serum testosterone level" ], [ "decreased serum testosterone levels", "decrease serum testosterone level" ], [ "decreased testosterone", "decrease testosterone" ], [ "low serum testosterone level", "low serum testosterone level" ], [ "low serum testosterone levels", "low serum testosterone level" ] ], "xref": [ "SNOMEDCT_US:131078003", "UMLS:C1295654", "UMLS:C4073137" ], "is_a": [ "HP:0030087", "HP:0030349" ], "is_obsolete": "", "replace_id": "" }, "HP:0040172": { "name": [ "abnormality of occipitofrontalis muscle", "abnormality of occipitofrontalis muscle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073138" ], "is_a": [ "HP:0003011" ], "is_obsolete": "", "replace_id": "" }, "HP:0040173": { "name": [ "abnormality of the tongue muscle", "abnormality of the tongue muscle" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of lingual muscle", "abnormality of lingual muscle" ], [ "abnormality of the tongue muscle", "abnormality of the tongue muscle" ] ], "xref": [ "UMLS:C4073139" ], "is_a": [ "HP:0011805", "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0040174": { "name": [ "abnormality of extrinsic muscle of tongue", "abnormality of extrinsic muscle of tongue" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of extrinsic lingual muscle", "abnormality of extrinsic lingual muscle" ] ], "xref": [ "UMLS:C4073140" ], "is_a": [ "HP:0040173" ], "is_obsolete": "", "replace_id": "" }, "HP:0040175": { "name": [ "platelet - activating factor acetylhydrolase deficiency", "platelet - activate factor acetylhydrolase deficiency" ], "alt_id": [], "def": "Reduced level of platelet-activating factor acetylhydrolase.", "synonym": [], "xref": [ "MSH:C566640", "UMLS:C3280315" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0040176": { "name": [ "abnormal circulating phospholipid concentration", "abnormal circulate phospholipid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a phospholipid in the blood circulation.", "synonym": [ [ "abnormal level of phospholipids", "abnormal level of phospholipid" ] ], "xref": [ "UMLS:C4073141" ], "is_a": [ "HP:0003119" ], "is_obsolete": "", "replace_id": "" }, "HP:0040177": { "name": [ "abnormal level of platelet - activating factor", "abnormal level of platelet - activating factor" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal level of paf", "abnormal level of paf" ] ], "xref": [ "UMLS:C4073142" ], "is_a": [ "HP:0040176" ], "is_obsolete": "", "replace_id": "" }, "HP:0040178": { "name": [ "increased level of platelet - activating factor", "increase level of platelet - activating factor" ], "alt_id": [], "def": "", "synonym": [ [ "increased level of paf", "increase level of paf" ] ], "xref": [ "UMLS:C4073143" ], "is_a": [ "HP:0040177" ], "is_obsolete": "", "replace_id": "" }, "HP:0040179": { "name": [ "decreased level of platelet - activating factor", "decrease level of platelet - activating factor" ], "alt_id": [], "def": "", "synonym": [ [ "decreased level of paf", "decrease level of paf" ] ], "xref": [ "UMLS:C4073144" ], "is_a": [ "HP:0040177" ], "is_obsolete": "", "replace_id": "" }, "HP:0040180": { "name": [ "obsolete hyperkeratosis pilaris", "obsolete hyperkeratosis pilaris" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0032152" }, "HP:0040181": { "name": [ "chapped lip", "chap lip" ], "alt_id": [], "def": "Cracking, fissuring, and peeling of the skin of the lips.", "synonym": [ [ "chapped lip", "chap lip" ], [ "chapped lips", "chap lip" ], [ "cheilitis simplex", "cheilitis simplex" ], [ "common cheilitis", "common cheilitis" ], [ "dry lips", "dry lip" ], [ "perioral dermatitis", "perioral dermatitis" ] ], "xref": [ "MSH:D019557", "SNOMEDCT_US:16459000", "SNOMEDCT_US:238751002", "SNOMEDCT_US:248182008", "SNOMEDCT_US:402294001", "UMLS:C0263449", "UMLS:C0424489" ], "is_a": [ "HP:0000159" ], "is_obsolete": "", "replace_id": "" }, "HP:0040182": { "name": [ "inappropriate sinus tachycardia", "inappropriate sinus tachycardia" ], "alt_id": [], "def": "Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands.", "synonym": [], "xref": [ "SNOMEDCT_US:425582007", "UMLS:C1881170" ], "is_a": [ "HP:0011703" ], "is_obsolete": "", "replace_id": "" }, "HP:0040183": { "name": [ "encopresis", "encopresis" ], "alt_id": [], "def": "", "synonym": [ [ "stool holding", "stool hold" ], [ "stool soiling", "stool soil" ] ], "xref": [ "SNOMEDCT_US:302690004", "UMLS:C2945606" ], "is_a": [ "HP:0002607" ], "is_obsolete": "", "replace_id": "" }, "HP:0040184": { "name": [ "oral bleeding", "oral bleeding" ], "alt_id": [], "def": "", "synonym": [ [ "oral bleeding", "oral bleeding" ], [ "oral haemorrhage", "oral haemorrhage" ], [ "oral hemorrhage", "oral hemorrhage" ] ], "xref": [ "MSH:D006472", "SNOMEDCT_US:22490002", "UMLS:C0029163" ], "is_a": [ "HP:0031815" ], "is_obsolete": "", "replace_id": "" }, "HP:0040185": { "name": [ "macrothrombocytopenia", "macrothrombocytopenia" ], "alt_id": [], "def": "", "synonym": [ [ "macrothrombozytopenia", "macrothrombozytopenia" ] ], "xref": [ "UMLS:C2751260" ], "is_a": [ "HP:0001873", "HP:0011877" ], "is_obsolete": "", "replace_id": "" }, "HP:0040186": { "name": [ "maculopapular exanthema", "maculopapular exanthema" ], "alt_id": [], "def": "A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.", "synonym": [], "xref": [ "SNOMEDCT_US:247471006", "SNOMEDCT_US:47725002", "UMLS:C0423791" ], "is_a": [ "HP:4000054" ], "is_obsolete": "", "replace_id": "" }, "HP:0040187": { "name": [ "neonatal sepsis", "neonatal sepsis" ], "alt_id": [], "def": "Systemic inflammatory response to infection in newborn babies.", "synonym": [], "xref": [ "MSH:D000071074", "SNOMEDCT_US:206376005", "UMLS:C0456103" ], "is_a": [ "HP:0100806" ], "is_obsolete": "", "replace_id": "" }, "HP:0040188": { "name": [ "osteochondrosis", "osteochondrosis" ], "alt_id": [], "def": "Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.", "synonym": [], "xref": [ "MSH:D055034", "SNOMEDCT_US:19579005", "UMLS:C0029429" ], "is_a": [ "HP:0001367", "HP:0100323" ], "is_obsolete": "", "replace_id": "" }, "HP:0040189": { "name": [ "scaling skin", "scale skin" ], "alt_id": [], "def": "Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.", "synonym": [ [ "desquamation", "desquamation" ], [ "flaking skin", "flake skin" ], [ "peeling skin", "peel skin" ], [ "scaling skin", "scale skin" ], [ "scaly skin", "scaly skin" ] ], "xref": [ "SNOMEDCT_US:14411002", "SNOMEDCT_US:271767006", "UMLS:C0237849" ], "is_a": [ "HP:0011124" ], "is_obsolete": "", "replace_id": "" }, "HP:0040190": { "name": [ "white scaling skin", "white scaling skin" ], "alt_id": [], "def": "", "synonym": [ [ "white scaling skin", "white scaling skin" ], [ "white scaly skin", "white scaly skin" ] ], "xref": [ "UMLS:C4073146" ], "is_a": [ "HP:0040189" ], "is_obsolete": "", "replace_id": "" }, "HP:0040191": { "name": [ "rectus femoris muscle atrophy", "rectus femoris muscle atrophy" ], "alt_id": [], "def": "", "synonym": [ [ "atrophy of the rectus femoris muscles", "atrophy of the rectus femoris muscle" ] ], "xref": [ "UMLS:C2083352" ], "is_a": [ "HP:0009050" ], "is_obsolete": "", "replace_id": "" }, "HP:0040192": { "name": [ "apudoma", "apudoma" ], "alt_id": [], "def": "An endocrine tumor arising from an APUD cell.", "synonym": [ [ "amine precursor uptake and decarboxylation tumours", "amine precursor uptake and decarboxylation tumour" ] ], "xref": [ "MSH:D001079", "SNOMEDCT_US:253008000", "SNOMEDCT_US:74926005", "UMLS:C0003650" ], "is_a": [ "HP:0100568" ], "is_obsolete": "", "replace_id": "" }, "HP:0040193": { "name": [ "obsolete pinealoblastoma", "obsolete pinealoblastoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0030408" }, "HP:0040194": { "name": [ "increased head circumference", "increase head circumference" ], "alt_id": [], "def": "An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart.", "synonym": [ [ "increased head circumference", "increase head circumference" ] ], "xref": [ "UMLS:C4083076" ], "is_a": [ "HP:0000240" ], "is_obsolete": "", "replace_id": "" }, "HP:0040195": { "name": [ "decreased head circumference", "decrease head circumference" ], "alt_id": [], "def": "An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean.", "synonym": [ [ "decreased head circumference", "decrease head circumference" ] ], "xref": [ "SNOMEDCT_US:271611007", "UMLS:C0424688" ], "is_a": [ "HP:0000240" ], "is_obsolete": "", "replace_id": "" }, "HP:0040196": { "name": [ "mild microcephaly", "mild microcephaly" ], "alt_id": [], "def": "Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).", "synonym": [], "xref": [ "UMLS:C1836806" ], "is_a": [ "HP:0040195" ], "is_obsolete": "", "replace_id": "" }, "HP:0040197": { "name": [ "encephalomalacia", "encephalomalacia" ], "alt_id": [], "def": "Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.", "synonym": [ [ "cerebral softening", "cerebral softening" ] ], "xref": [ "MSH:D004678", "SNOMEDCT_US:58762006", "UMLS:C0014068" ], "is_a": [ "HP:0002060" ], "is_obsolete": "", "replace_id": "" }, "HP:0040198": { "name": [ "non - medullary thyroid carcinoma", "non - medullary thyroid carcinoma" ], "alt_id": [], "def": "", "synonym": [ [ "nonmedullary thyroid carcinoma", "nonmedullary thyroid carcinoma" ], [ "thyroid cancer , nonmedullary", "thyroid cancer , nonmedullary" ] ], "xref": [ "MSH:C536915", "UMLS:C3501843" ], "is_a": [ "HP:0002890" ], "is_obsolete": "", "replace_id": "" }, "HP:0040199": { "name": [ "obsolete flat midface", "obsolete flat midface" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0011800" }, "HP:0040200": { "name": [ "motor impersistence", "motor impersistence" ], "alt_id": [], "def": "The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts.", "synonym": [ [ "negative chorea", "negative chorea" ] ], "xref": [ "UMLS:C4073148" ], "is_a": [ "HP:0011443" ], "is_obsolete": "", "replace_id": "" }, "HP:0040201": { "name": [ "simultanapraxia", "simultanapraxia" ], "alt_id": [], "def": "A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue.", "synonym": [], "xref": [ "UMLS:C4073149" ], "is_a": [ "HP:0040200" ], "is_obsolete": "", "replace_id": "" }, "HP:0040202": { "name": [ "abnormal consumption behavior", "abnormal consumption behavior" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal consumption behaviour", "abnormal consumption behaviour" ] ], "xref": [ "UMLS:C4073150" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0040203": { "name": [ "abnormal csf neopterin level", "abnormal csf neopterin level" ], "alt_id": [], "def": "Abnormal concentration of neopterin in the cerebrospinal fluid (CSF).", "synonym": [], "xref": [ "UMLS:C4073151" ], "is_a": [ "HP:0025454", "HP:0032207" ], "is_obsolete": "", "replace_id": "" }, "HP:0040204": { "name": [ "elevated csf neopterin level", "elevate csf neopterin level" ], "alt_id": [], "def": "Increased concentration of neopterin in the cerebrospinal fluid (CSF).", "synonym": [], "xref": [ "UMLS:C4073152" ], "is_a": [ "HP:0040203" ], "is_obsolete": "", "replace_id": "" }, "HP:0040205": { "name": [ "decreased csf neopterin level", "decrease csf neopterin level" ], "alt_id": [], "def": "Decreased concentration of neopterin in the cerebrospinal fluid (CSF).", "synonym": [], "xref": [ "UMLS:C4073153" ], "is_a": [ "HP:0040203" ], "is_obsolete": "", "replace_id": "" }, "HP:0040206": { "name": [ "abnormal circulating neopterin concentration", "abnormal circulate neopterin concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of neopterin in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4073154" ], "is_a": [ "HP:0004364" ], "is_obsolete": "", "replace_id": "" }, "HP:0040207": { "name": [ "abnormal csf biopterin level", "abnormal csf biopterin level" ], "alt_id": [], "def": "Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).", "synonym": [ [ "abnormal cerebrospinal fluid biopterin level", "abnormal cerebrospinal fluid biopterin level" ] ], "xref": [ "UMLS:C4073155" ], "is_a": [ "HP:0025454", "HP:0032207" ], "is_obsolete": "", "replace_id": "" }, "HP:0040208": { "name": [ "elevated csf biopterin level", "elevate csf biopterin level" ], "alt_id": [], "def": "Increased concentration of biopterin in the cerebrospinal fluid (CSF).", "synonym": [], "xref": [ "UMLS:C4073156" ], "is_a": [ "HP:0040207" ], "is_obsolete": "", "replace_id": "" }, "HP:0040209": { "name": [ "decreased csf biopterin level", "decrease csf biopterin level" ], "alt_id": [], "def": "Decreased concentration of biopterin in the cerebrospinal fluid (CSF).", "synonym": [ [ "low csf bh4 ( tetrahydrobiopterin )", "low csf bh4 ( tetrahydrobiopterin )" ] ], "xref": [ "UMLS:C4073157" ], "is_a": [ "HP:0040207" ], "is_obsolete": "", "replace_id": "" }, "HP:0040210": { "name": [ "abnormal circulating biopterin concentration", "abnormal circulate biopterin concentration" ], "alt_id": [], "def": "A deviation from the normal concentration of biopterin in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4073158" ], "is_a": [ "HP:0004364" ], "is_obsolete": "", "replace_id": "" }, "HP:0040211": { "name": [ "abnormal skin morphology of the palm", "abnormal skin morphology of the palm" ], "alt_id": [], "def": "An abnormality of the skin of the palm, that is, the skin of the front of the hand.", "synonym": [], "xref": [ "UMLS:C4073159" ], "is_a": [ "HP:0011356", "HP:0100871" ], "is_obsolete": "", "replace_id": "" }, "HP:0040212": { "name": [ "risus sardonicus", "risus sardonicus" ], "alt_id": [], "def": "Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles.", "synonym": [ [ "rictus grin", "rictus grin" ] ], "xref": [ "SNOMEDCT_US:64314006", "UMLS:C0343494" ], "is_a": [ "HP:0005324" ], "is_obsolete": "", "replace_id": "" }, "HP:0040213": { "name": [ "hypopnea", "hypopnea" ], "alt_id": [], "def": "Hypopnea is referring to breathing that is abnormally shallow.", "synonym": [ [ "shallow breathing", "shallow breathing" ] ], "xref": [ "SNOMEDCT_US:386614005", "UMLS:C0235546" ], "is_a": [ "HP:0002793" ], "is_obsolete": "", "replace_id": "" }, "HP:0040214": { "name": [ "abnormal insulin level", "abnormal insulin level" ], "alt_id": [], "def": "An abnormal concentration of insulin in the body.", "synonym": [], "xref": [ "UMLS:C4073160" ], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0040215": { "name": [ "abnormal circulating insulin level", "abnormal circulate insulin level" ], "alt_id": [], "def": "An abnormal concentration of insulin in the blood.", "synonym": [], "xref": [ "UMLS:C4073161" ], "is_a": [ "HP:0040214" ], "is_obsolete": "", "replace_id": "" }, "HP:0040216": { "name": [ "hypoinsulinemia", "hypoinsulinemia" ], "alt_id": [], "def": "A decreased concentration of insulin in the blood.", "synonym": [], "xref": [ "UMLS:C2748055" ], "is_a": [ "HP:0040215" ], "is_obsolete": "", "replace_id": "" }, "HP:0040217": { "name": [ "elevated hemoglobin a1c", "elevate hemoglobin a1c" ], "alt_id": [], "def": "An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.", "synonym": [ [ "elevated glycated haemoglobin", "elevate glycated haemoglobin" ], [ "elevated glycated hemoglobin", "elevate glycated hemoglobin" ], [ "elevated glycosylated haemoglobin", "elevate glycosylated haemoglobin" ], [ "elevated glycosylated hemoglobin", "elevate glycosylated hemoglobin" ], [ "elevated haemoglobin a1c", "elevate haemoglobin a1c" ], [ "elevated hba1c", "elevate hba1c" ], [ "increased hba1c levels", "increase hba1c level" ] ], "xref": [ "UMLS:C4073162" ], "is_a": [ "HP:0011902" ], "is_obsolete": "", "replace_id": "" }, "HP:0040218": { "name": [ "reduced natural killer cell count", "reduced natural killer cell count" ], "alt_id": [], "def": "Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.", "synonym": [ [ "reduced natural killer cell number", "reduced natural killer cell number" ], [ "reduced nk cell number", "reduce nk cell number" ] ], "xref": [ "UMLS:C1855767" ], "is_a": [ "HP:0040089" ], "is_obsolete": "", "replace_id": "" }, "HP:0040219": { "name": [ "absent natural killer cells", "absent natural killer cell" ], "alt_id": [], "def": "Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.", "synonym": [ [ "absent nk cells", "absent nk cell" ] ], "xref": [ "UMLS:C4073163" ], "is_a": [ "HP:0500033" ], "is_obsolete": "", "replace_id": "" }, "HP:0040220": { "name": [ "abnormal size of the dental root", "abnormal size of the dental root" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4280723" ], "is_a": [ "HP:0006486" ], "is_obsolete": "", "replace_id": "" }, "HP:0040221": { "name": [ "hypoplasia of the dental root", "hypoplasia of the dental root" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4280722" ], "is_a": [ "HP:0040220" ], "is_obsolete": "", "replace_id": "" }, "HP:0040222": { "name": [ "maternal thrombophilia", "maternal thrombophilia" ], "alt_id": [], "def": "An increased tendency towards thrombosis in the mother during a pregnancy.", "synonym": [], "xref": [ "UMLS:C4280721" ], "is_a": [ "HP:0002686" ], "is_obsolete": "", "replace_id": "" }, "HP:0040223": { "name": [ "pulmonary hemorrhage", "pulmonary hemorrhage" ], "alt_id": [], "def": "Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.", "synonym": [ [ "intrapulmonary haemorrhage", "intrapulmonary haemorrhage" ], [ "intrapulmonary hemorrhage", "intrapulmonary hemorrhage" ], [ "pulmonary haemorrhage", "pulmonary haemorrhage" ] ], "xref": [ "UMLS:C4280720" ], "is_a": [ "HP:0002088", "HP:0011029" ], "is_obsolete": "", "replace_id": "" }, "HP:0040224": { "name": [ "abnormality of fibrinolysis", "abnormality of fibrinolysis" ], "alt_id": [], "def": "Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)", "synonym": [ [ "abnormality of the fibrinolytic system", "abnormality of the fibrinolytic system" ] ], "xref": [ "UMLS:C4280719" ], "is_a": [ "HP:0001928" ], "is_obsolete": "", "replace_id": "" }, "HP:0040225": { "name": [ "decrease in high molecular weight von willebrand factor multimers", "decrease in high molecular weight von willebrand factor multimers" ], "alt_id": [], "def": "A decrease in high molecular weight von Willebrand factor multimers.", "synonym": [ [ "decrease in hmw vwf multimers", "decrease in hmw vwf multimers" ] ], "xref": [ "UMLS:C4280718" ], "is_a": [ "HP:0030131" ], "is_obsolete": "", "replace_id": "" }, "HP:0040226": { "name": [ "decreased level of heparin co - factor ii", "decrease level of heparin co - factor ii" ], "alt_id": [], "def": "An abnormality of coagulation related to a decreased concentration of heparin co-factor II", "synonym": [ [ "heparin co - factor ii deficiency", "heparin co - factor ii deficiency" ] ], "xref": [ "UMLS:C4280717" ], "is_a": [ "HP:0010990" ], "is_obsolete": "", "replace_id": "" }, "HP:0040227": { "name": [ "decreased level of histidine - rich glycoprotein", "decrease level of histidine - rich glycoprotein" ], "alt_id": [], "def": "Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation", "synonym": [], "xref": [ "UMLS:C4280716" ], "is_a": [ "HP:0010990" ], "is_obsolete": "", "replace_id": "" }, "HP:0040228": { "name": [ "decreased level of plasminogen", "decrease level of plasminogen" ], "alt_id": [], "def": "A decreased level of Plasminogen", "synonym": [ [ "hypoplasminogenemia", "hypoplasminogenemia" ] ], "xref": [ "UMLS:C4280715" ], "is_a": [ "HP:0010990", "HP:0032312" ], "is_obsolete": "", "replace_id": "" }, "HP:0040229": { "name": [ "decreased level of thrombomodulin", "decrease level of thrombomodulin" ], "alt_id": [], "def": "Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot", "synonym": [], "xref": [ "UMLS:C4255334" ], "is_a": [ "HP:0010990" ], "is_obsolete": "", "replace_id": "" }, "HP:0040230": { "name": [ "decreased level of tissue plasminogen activator", "decrease level of tissue plasminogen activator" ], "alt_id": [], "def": "The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis", "synonym": [ [ "decreased level of tpa", "decrease level of tpa" ] ], "xref": [ "UMLS:C4280714" ], "is_a": [ "HP:0010990" ], "is_obsolete": "", "replace_id": "" }, "HP:0040231": { "name": [ "abnormal onset of bleeding", "abnormal onset of bleed" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4280713" ], "is_a": [ "HP:0001892" ], "is_obsolete": "", "replace_id": "" }, "HP:0040232": { "name": [ "delayed onset bleeding", "delay onset bleed" ], "alt_id": [], "def": "Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours.", "synonym": [], "xref": [ "UMLS:C4280712" ], "is_a": [ "HP:0040231" ], "is_obsolete": "", "replace_id": "" }, "HP:0040233": { "name": [ "factor xiii subunit a deficiency", "factor xiii subunit a deficiency" ], "alt_id": [], "def": "Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.", "synonym": [ [ "reduced factor xiii , subunit a", "reduce factor xiii , subunit a" ] ], "xref": [ "MSH:C567691", "UMLS:C2750514" ], "is_a": [ "HP:0008357" ], "is_obsolete": "", "replace_id": "" }, "HP:0040234": { "name": [ "factor xiii subunit b deficiency", "factor xiii subunit b deficiency" ], "alt_id": [], "def": "Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.", "synonym": [ [ "reduced factor xiii , subunit b", "reduce factor xiii , subunit b" ] ], "xref": [ "MSH:C567688", "UMLS:C2750481" ], "is_a": [ "HP:0008357" ], "is_obsolete": "", "replace_id": "" }, "HP:0040235": { "name": [ "leukocyte inclusion bodies", "leukocyte inclusion body" ], "alt_id": [], "def": "The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.", "synonym": [ [ "dohle - like leukocyte inclusion bodies", "dohle - like leukocyte inclusion body" ], [ "inclusion bodies in leukocytes", "inclusion body in leukocyte" ] ], "xref": [ "UMLS:C4280711" ], "is_a": [ "HP:0008264" ], "is_obsolete": "", "replace_id": "" }, "HP:0040236": { "name": [ "hyperfibrinolysis", "hyperfibrinolysis" ], "alt_id": [], "def": "Increased degradation of fibrin, associated with clot instability and bleeding", "synonym": [], "xref": [ "UMLS:C3805089" ], "is_a": [ "HP:0040224" ], "is_obsolete": "", "replace_id": "" }, "HP:0040237": { "name": [ "impaired binding of factor viii to vwf", "impaired binding of factor viii to vwf" ], "alt_id": [], "def": "Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay.", "synonym": [ [ "von willebrand disease type ii normandy", "von willebrand disease type ii normandy" ] ], "xref": [ "UMLS:C4280710" ], "is_a": [ "HP:0012146" ], "is_obsolete": "", "replace_id": "" }, "HP:0040238": { "name": [ "impaired neutrophil chemotaxis", "impaired neutrophil chemotaxis" ], "alt_id": [], "def": "An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response", "synonym": [ [ "neutrophil migratory defect", "neutrophil migratory defect" ] ], "xref": [ "UMLS:C4280709" ], "is_a": [ "HP:0005400" ], "is_obsolete": "", "replace_id": "" }, "HP:0040239": { "name": [ "increased plasma vitamin k epoxide after vitamin k supplementation", "increase plasma vitamin k epoxide after vitamin k supplementation" ], "alt_id": [], "def": "Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1.", "synonym": [], "xref": [ "UMLS:C4280708" ], "is_a": [ "HP:0010990" ], "is_obsolete": "", "replace_id": "" }, "HP:0040240": { "name": [ "increased ratio of vwf propeptide to vwf antigen", "increase ratio of vwf propeptide to vwf antigen" ], "alt_id": [], "def": "An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA.", "synonym": [], "xref": [ "UMLS:C4280707" ], "is_a": [ "HP:0012146" ], "is_obsolete": "", "replace_id": "" }, "HP:0040241": { "name": [ "increased ripa", "increase ripa" ], "alt_id": [], "def": "Increased platelet agglutination in response to low-dose ristocetin", "synonym": [], "xref": [ "UMLS:C4280706" ], "is_a": [ "HP:0030402" ], "is_obsolete": "", "replace_id": "" }, "HP:0040242": { "name": [ "muscle hemorrhage", "muscle hemorrhage" ], "alt_id": [], "def": "Bleeding occuring within a muscle", "synonym": [ [ "muscle haemorrhage", "muscle haemorrhage" ] ], "xref": [ "SNOMEDCT_US:95422003", "UMLS:C0151702" ], "is_a": [ "HP:0011029", "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0040243": { "name": [ "prolonged euglobulin clot lysis time", "prolonged euglobulin clot lysis time" ], "alt_id": [], "def": "Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.", "synonym": [], "xref": [ "UMLS:C4280705" ], "is_a": [ "HP:0040224" ], "is_obsolete": "", "replace_id": "" }, "HP:0040244": { "name": [ "prolonged russell 's viper venom time", "prolong russell 's viper venom time" ], "alt_id": [], "def": "Increased time to coagulation in the Russell's viper venom assay", "synonym": [], "xref": [ "UMLS:C4280704" ], "is_a": [ "HP:0010990" ], "is_obsolete": "", "replace_id": "" }, "HP:0040245": { "name": [ "reduced alpha - 2 - antiplasmin activity", "reduce alpha - 2 - antiplasmin activity" ], "alt_id": [], "def": "Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.", "synonym": [], "xref": [ "UMLS:C4280703" ], "is_a": [ "HP:0010990" ], "is_obsolete": "", "replace_id": "" }, "HP:0040246": { "name": [ "reduced antithrombin antigen", "reduce antithrombin antigen" ], "alt_id": [], "def": "Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.", "synonym": [], "xref": [ "UMLS:C4280702" ], "is_a": [ "HP:0010990" ], "is_obsolete": "", "replace_id": "" }, "HP:0040247": { "name": [ "reduced euglobulin clot lysis time", "reduce euglobulin clot lysis time" ], "alt_id": [], "def": "Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.", "synonym": [], "xref": [ "UMLS:C4280701" ], "is_a": [ "HP:0040224" ], "is_obsolete": "", "replace_id": "" }, "HP:0040248": { "name": [ "reduced plasminogen activator inhibitor 1 activity", "reduce plasminogen activator inhibitor 1 activity" ], "alt_id": [], "def": "Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator.", "synonym": [], "xref": [ "UMLS:C4280700" ], "is_a": [ "HP:0040224" ], "is_obsolete": "", "replace_id": "" }, "HP:0040249": { "name": [ "reduced plasminogen activator inhibitor 1 antigen", "reduce plasminogen activator inhibitor 1 antigen" ], "alt_id": [], "def": "Reduced level of plasminogen activator inhibitor 1 antigen.", "synonym": [], "xref": [ "UMLS:C4280699" ], "is_a": [ "HP:0040224" ], "is_obsolete": "", "replace_id": "" }, "HP:0040250": { "name": [ "reduced prothrombin antigen", "reduce prothrombin antigen" ], "alt_id": [], "def": "Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin.", "synonym": [], "xref": [ "UMLS:C4280698" ], "is_a": [ "HP:0012200" ], "is_obsolete": "", "replace_id": "" }, "HP:0040251": { "name": [ "hand dimple", "hand dimple" ], "alt_id": [], "def": "A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand.", "synonym": [ [ "hand dimples", "hand dimple" ] ], "xref": [ "UMLS:C4280697" ], "is_a": [ "HP:0010781" ], "is_obsolete": "", "replace_id": "" }, "HP:0040252": { "name": [ "abnormal size of the clitoris", "abnormal size of the clitoris" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4280696" ], "is_a": [ "HP:0000056" ], "is_obsolete": "", "replace_id": "" }, "HP:0040253": { "name": [ "increased size of the clitoris", "increase size of the clitoris" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4280695" ], "is_a": [ "HP:0040252" ], "is_obsolete": "", "replace_id": "" }, "HP:0040254": { "name": [ "decreased size of the clitoris", "decreased size of the clitoris" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4280694" ], "is_a": [ "HP:0040252" ], "is_obsolete": "", "replace_id": "" }, "HP:0040255": { "name": [ "aplasia / hypoplasia of the clitoris", "aplasia / hypoplasia of the clitoris" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4280693" ], "is_a": [ "HP:0000056" ], "is_obsolete": "", "replace_id": "" }, "HP:0040256": { "name": [ "aplastic / hypoplastic nasopharyngeal adenoids", "aplastic / hypoplastic nasopharyngeal adenoid" ], "alt_id": [], "def": "Absence or underdevelopment of the nasopharyngeal adenoids.", "synonym": [ [ "adenoids small or absent", "adenoid small or absent" ] ], "xref": [ "UMLS:C4280290" ], "is_a": [ "HP:3000033" ], "is_obsolete": "", "replace_id": "" }, "HP:0040257": { "name": [ "abnormal size of nasopharyngeal adenoids", "abnormal size of nasopharyngeal adenoid" ], "alt_id": [], "def": "A deviation in the size of nasopharyngeal adenoids.", "synonym": [], "xref": [ "UMLS:C4280692" ], "is_a": [ "HP:3000033" ], "is_obsolete": "", "replace_id": "" }, "HP:0040258": { "name": [ "hypoplastic nasopharyngeal adenoids", "hypoplastic nasopharyngeal adenoid" ], "alt_id": [], "def": "Underdevelopment of the nasopharyngeal adenoids.", "synonym": [ [ "underdeveloped nasopharyngeal adenoids", "underdeveloped nasopharyngeal adenoid" ] ], "xref": [ "UMLS:C4280691" ], "is_a": [ "HP:0040256", "HP:0040260" ], "is_obsolete": "", "replace_id": "" }, "HP:0040259": { "name": [ "aplastic nasopharyngeal adenoids", "aplastic nasopharyngeal adenoid" ], "alt_id": [], "def": "Absence of the nasopharyngeal adenoids as a developmental defect.", "synonym": [], "xref": [ "UMLS:C4280690" ], "is_a": [ "HP:0040256" ], "is_obsolete": "", "replace_id": "" }, "HP:0040260": { "name": [ "decreased size of nasopharyngeal adenoids", "decreased size of nasopharyngeal adenoid" ], "alt_id": [], "def": "An abnormal decrease in the size of nasopharyngeal adenoids.", "synonym": [], "xref": [ "UMLS:C4280689" ], "is_a": [ "HP:0040257" ], "is_obsolete": "", "replace_id": "" }, "HP:0040261": { "name": [ "increased size of nasopharyngeal adenoids", "increase size of nasopharyngeal adenoid" ], "alt_id": [], "def": "An abnormal increase in the size of nasopharyngeal adenoids.", "synonym": [ [ "adenoid hypertrophy", "adenoid hypertrophy" ], [ "adenoids large", "adenoid large" ] ], "xref": [ "SNOMEDCT_US:111591002", "SNOMEDCT_US:276442006", "UMLS:C0149825", "UMLS:C0455938" ], "is_a": [ "HP:0040257" ], "is_obsolete": "", "replace_id": "" }, "HP:0040262": { "name": [ "glue ear", "glue ear" ], "alt_id": [], "def": "Middle ear is filled with glue-like fluid instead of air.", "synonym": [], "xref": [ "MSH:D010034", "SNOMEDCT_US:78868004", "UMLS:C0029883" ], "is_a": [ "HP:0000370" ], "is_obsolete": "", "replace_id": "" }, "HP:0040263": { "name": [ "jaw ankylosis", "jaw ankylosis" ], "alt_id": [], "def": "", "synonym": [ [ "difficulty opening mouth", "difficulty open mouth" ] ], "xref": [ "SNOMEDCT_US:285466001", "UMLS:C0563350", "UMLS:C4280688" ], "is_a": [ "HP:0000277" ], "is_obsolete": "", "replace_id": "" }, "HP:0040264": { "name": [ "jaw pain", "jaw pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw.", "synonym": [ [ "jaw pain", "jaw pain" ] ], "xref": [ "SNOMEDCT_US:274667000", "UMLS:C0236000" ], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0040265": { "name": [ "upper limb muscle hypertrophy", "upper limb muscle hypertrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4280687" ], "is_a": [ "HP:0001446", "HP:0003712" ], "is_obsolete": "", "replace_id": "" }, "HP:0040266": { "name": [ "proximal upper limb muscle hypertrophy", "proximal upper limb muscle hypertrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4280686" ], "is_a": [ "HP:0040265" ], "is_obsolete": "", "replace_id": "" }, "HP:0040267": { "name": [ "distal upper limb muscle hypertrophy", "distal upper limb muscle hypertrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4280685" ], "is_a": [ "HP:0040265" ], "is_obsolete": "", "replace_id": "" }, "HP:0040268": { "name": [ "recurrent infections of the middle ear", "recurrent infection of the middle ear" ], "alt_id": [], "def": "Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections", "synonym": [], "xref": [ "UMLS:C0747085" ], "is_a": [ "HP:0000370", "HP:0002719" ], "is_obsolete": "", "replace_id": "" }, "HP:0040269": { "name": [ "blocked eustachian tube", "block eustachian tube" ], "alt_id": [], "def": "", "synonym": [ [ "obstruction of eustachian tube", "obstruction of eustachian tube" ] ], "xref": [ "SNOMEDCT_US:48145001", "UMLS:C0149508" ], "is_a": [ "HP:0040115" ], "is_obsolete": "", "replace_id": "" }, "HP:0040270": { "name": [ "impaired glucose tolerance", "impaired glucose tolerance" ], "alt_id": [], "def": "An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.", "synonym": [ [ "decreased glucose tolerance", "decrease glucose tolerance" ], [ "glucose tolerance decreased", "glucose tolerance decrease" ] ], "xref": [ "MP:0005291", "UMLS:C0151671" ], "is_a": [ "HP:0001952" ], "is_obsolete": "", "replace_id": "" }, "HP:0040272": { "name": [ "hyperintensity of mri t2 signal of the spinal cord", "hyperintensity of mri t2 signal of the spinal cord" ], "alt_id": [], "def": "A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.", "synonym": [], "xref": [ "UMLS:C4280684" ], "is_a": [ "HP:0002143" ], "is_obsolete": "", "replace_id": "" }, "HP:0040273": { "name": [ "adenocarcinoma of the intestines", "adenocarcinoma of the intestine" ], "alt_id": [], "def": "A malignant epithelial tumor with a glandular organization that originates in the intestines.", "synonym": [], "xref": [ "NCIT:C2852", "UMLS:C4280683" ], "is_a": [ "HP:0002672" ], "is_obsolete": "", "replace_id": "" }, "HP:0040274": { "name": [ "adenocarcinoma of the small intestine", "adenocarcinoma of the small intestine" ], "alt_id": [], "def": "A malignant epithelial tumor with a glandular organization that originates in the small intestine.", "synonym": [], "xref": [ "NCIT:C2852", "SNOMEDCT_US:424440001", "UMLS:C0278803" ], "is_a": [ "HP:0040273", "HP:0100833" ], "is_obsolete": "", "replace_id": "" }, "HP:0040275": { "name": [ "adenocarcinoma of the large intestine", "adenocarcinoma of the large intestine" ], "alt_id": [], "def": "A malignant epithelial tumor with a glandular organization that originates in the large intestine.", "synonym": [], "xref": [ "NCIT:C2852", "SNOMEDCT_US:408645001", "UMLS:C1319315" ], "is_a": [ "HP:0040273", "HP:0100834" ], "is_obsolete": "", "replace_id": "" }, "HP:0040276": { "name": [ "adenocarcinoma of the colon", "adenocarcinoma of the colon" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "NCIT:C2852", "UMLS:C0338106" ], "is_a": [ "HP:0040275", "HP:0100273" ], "is_obsolete": "", "replace_id": "" }, "HP:0040277": { "name": [ "neoplasm of the pituitary gland", "neoplasm of the pituitary gland" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "NCIT:C3262" ], "is_a": [ "HP:0100568" ], "is_obsolete": "", "replace_id": "" }, "HP:0040278": { "name": [ "prolactinoma", "prolactinoma" ], "alt_id": [], "def": "A benign tumor (adenoma) of the pituitary gland", "synonym": [], "xref": [], "is_a": [ "HP:0012503", "HP:0040277" ], "is_obsolete": "", "replace_id": "" }, "HP:0040279": { "name": [ "frequency", "frequency" ], "alt_id": [], "def": "Class to represent frequency of phenotypic abnormalities within a patient cohort.", "synonym": [], "xref": [], "is_a": [ "HP:0000001" ], "is_obsolete": "", "replace_id": "" }, "HP:0040280": { "name": [ "obligate", "obligate" ], "alt_id": [], "def": "Always present, i.e. in 100% of the cases.", "synonym": [ [ "obligate ( 100 % )", "obligate ( 100 % )" ] ], "xref": [ "ORPHA:453310" ], "is_a": [ "HP:0040279" ], "is_obsolete": "", "replace_id": "" }, "HP:0040281": { "name": [ "very frequent", "very frequent" ], "alt_id": [], "def": "Present in 80% to 99% of the cases.", "synonym": [ [ "very frequent ( 99 - 80 % )", "very frequent ( 99 - 80 % )" ] ], "xref": [ "ORPHA:453311" ], "is_a": [ "HP:0040279" ], "is_obsolete": "", "replace_id": "" }, "HP:0040282": { "name": [ "frequent", "frequent" ], "alt_id": [], "def": "Present in 30% to 79% of the cases.", "synonym": [ [ "frequent ( 79 - 30 % )", "frequent ( 79 - 30 % )" ] ], "xref": [ "ORPHA:453312" ], "is_a": [ "HP:0040279" ], "is_obsolete": "", "replace_id": "" }, "HP:0040283": { "name": [ "occasional", "occasional" ], "alt_id": [], "def": "Present in 5% to 29% of the cases.", "synonym": [ [ "occasional ( 29 - 5 % )", "occasional ( 29 - 5 % )" ] ], "xref": [ "ORPHA:453313" ], "is_a": [ "HP:0040279" ], "is_obsolete": "", "replace_id": "" }, "HP:0040284": { "name": [ "very rare", "very rare" ], "alt_id": [], "def": "Present in 1% to 4% of the cases.", "synonym": [ [ "very rare ( & lt ; 4 - 1 % )", "very rare ( & lt ; 4 - 1 % )" ], [ "very rare ( < 4 - 1 % )", "very rare ( < 4 - 1 % )" ] ], "xref": [ "ORPHA:453314" ], "is_a": [ "HP:0040279" ], "is_obsolete": "", "replace_id": "" }, "HP:0040285": { "name": [ "excluded", "exclude" ], "alt_id": [], "def": "Present in 0% of the cases.", "synonym": [ [ "excluded ( 0 % )", "exclude ( 0 % )" ] ], "xref": [ "ORPHA:453315" ], "is_a": [ "HP:0040279" ], "is_obsolete": "", "replace_id": "" }, "HP:0040286": { "name": [ "abnormal axial muscle morphology", "abnormal axial muscle morphology" ], "alt_id": [], "def": "A structural anomaly of the muscles of the trunk and head.", "synonym": [ [ "abnormality of axial muscles", "abnormality of axial muscle" ] ], "xref": [], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0040287": { "name": [ "axial muscle atrophy", "axial muscle atrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0040286" ], "is_obsolete": "", "replace_id": "" }, "HP:0040288": { "name": [ "nasogastric tube feeding", "nasogastric tube feeding" ], "alt_id": [], "def": "The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.", "synonym": [], "xref": [], "is_a": [ "HP:0033454" ], "is_obsolete": "", "replace_id": "" }, "HP:0040289": { "name": [ "cyclic neutropenia", "cyclic neutropenia" ], "alt_id": [], "def": "Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia).", "synonym": [ [ "cyn", "cyn" ] ], "xref": [], "is_a": [ "HP:0001875" ], "is_obsolete": "", "replace_id": "" }, "HP:0040290": { "name": [ "obsolete abnormality of skeletal muscles", "obsolete abnormality of skeletal muscle" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0040291": { "name": [ "skeletal muscle steatosis", "skeletal muscle steatosis" ], "alt_id": [], "def": "", "synonym": [ [ "steatosis of skeletal muscle", "steatosis of skeletal muscle" ], [ "steatosis of skeletal muscles", "steatosis of skeletal muscle" ] ], "xref": [], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0040292": { "name": [ "left hemiplegia", "leave hemiplegia" ], "alt_id": [], "def": "", "synonym": [ [ "hemiplegia ( left )", "hemiplegia ( leave )" ] ], "xref": [], "is_a": [ "HP:0002301" ], "is_obsolete": "", "replace_id": "" }, "HP:0040293": { "name": [ "right hemiplegia", "right hemiplegia" ], "alt_id": [], "def": "", "synonym": [ [ "hemiplegia ( right )", "hemiplegia ( right )" ] ], "xref": [], "is_a": [ "HP:0002301" ], "is_obsolete": "", "replace_id": "" }, "HP:0040294": { "name": [ "duplicated tongue", "duplicate tongue" ], "alt_id": [], "def": "", "synonym": [ [ "duplication of tongue", "duplication of tongue" ], [ "tongue duplicated", "tongue duplicate" ], [ "tongue duplication", "tongue duplication" ] ], "xref": [], "is_a": [ "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:0040295": { "name": [ "duplication of the upper lip", "duplication of the upper lip" ], "alt_id": [], "def": "", "synonym": [ [ "double upper lip", "double upper lip" ] ], "xref": [], "is_a": [ "HP:0000177" ], "is_obsolete": "", "replace_id": "" }, "HP:0040296": { "name": [ "abnormal location of the eyebrow", "abnormal location of the eyebrow" ], "alt_id": [], "def": "Anomalous anatomical placement of the eyebrow.", "synonym": [ [ "abnormal location of eyebrows", "abnormal location of eyebrow" ], [ "abnormally placed eyebrows", "abnormally place eyebrow" ] ], "xref": [], "is_a": [ "HP:0000534" ], "is_obsolete": "", "replace_id": "" }, "HP:0040297": { "name": [ "preauricular cyst", "preauricular cyst" ], "alt_id": [], "def": "Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix.", "synonym": [], "xref": [], "is_a": [ "HP:0000383" ], "is_obsolete": "", "replace_id": "" }, "HP:0040298": { "name": [ "hyperplasia of the endometrium", "hyperplasia of the endometrium" ], "alt_id": [], "def": "", "synonym": [ [ "hyperplastic endometrium", "hyperplastic endometrium" ] ], "xref": [], "is_a": [ "HP:0030126" ], "is_obsolete": "", "replace_id": "" }, "HP:0040299": { "name": [ "decreased circulating free fatty acid level", "decrease circulate free fatty acid level" ], "alt_id": [], "def": "", "synonym": [ [ "low fatty acids level", "low fatty acid level" ] ], "xref": [], "is_a": [ "HP:0040300" ], "is_obsolete": "", "replace_id": "" }, "HP:0040300": { "name": [ "abnormal circulating free fatty acid concentration", "abnormal circulate free fatty acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a free fatty acid in the blood circulation.", "synonym": [ [ "abnormal circulating free fatty acid level", "abnormal circulate free fatty acid level" ] ], "xref": [], "is_a": [ "HP:0004359" ], "is_obsolete": "", "replace_id": "" }, "HP:0040301": { "name": [ "increased urinary glycerol", "increase urinary glycerol" ], "alt_id": [], "def": "An increased concentration of glycerol in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031979" ], "is_obsolete": "", "replace_id": "" }, "HP:0040302": { "name": [ "hyperglycerolemia", "hyperglycerolemia" ], "alt_id": [], "def": "Increased concentration of glycerol in the blood.", "synonym": [ [ "pseudohypertriglyceridemia", "pseudohypertriglyceridemia" ] ], "xref": [], "is_a": [ "HP:0031795" ], "is_obsolete": "", "replace_id": "" }, "HP:0040303": { "name": [ "decreased serum iron", "decrease serum iron" ], "alt_id": [], "def": "", "synonym": [ [ "low serum iron", "low serum iron" ] ], "xref": [], "is_a": [ "HP:0040130" ], "is_obsolete": "", "replace_id": "" }, "HP:0040304": { "name": [ "duplication of the sella turcica", "duplication of the sella turcica" ], "alt_id": [], "def": "", "synonym": [ [ "duplicate sella turcica", "duplicate sella turcica" ], [ "duplicated sella turcica", "duplicate sella turcica" ] ], "xref": [], "is_a": [ "HP:0002679" ], "is_obsolete": "", "replace_id": "" }, "HP:0040305": { "name": [ "increased male libido", "increase male libido" ], "alt_id": [], "def": "Increased desire for sexual activity on the part of a male.", "synonym": [], "xref": [], "is_a": [ "HP:0040307", "HP:0046503" ], "is_obsolete": "", "replace_id": "" }, "HP:0040306": { "name": [ "decreased male libido", "decrease male libido" ], "alt_id": [], "def": "Reduced desire for sexual activity on the part of a male.", "synonym": [], "xref": [], "is_a": [ "HP:0040307", "HP:0046504" ], "is_obsolete": "", "replace_id": "" }, "HP:0040307": { "name": [ "male sexual dysfunction", "male sexual dysfunction" ], "alt_id": [], "def": "A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity", "synonym": [], "xref": [], "is_a": [ "HP:0012874" ], "is_obsolete": "", "replace_id": "" }, "HP:0040308": { "name": [ "male anorgasmia", "male anorgasmia" ], "alt_id": [], "def": "Inability of a male to reach orgasm.", "synonym": [], "xref": [], "is_a": [ "HP:0040307", "HP:0046502" ], "is_obsolete": "", "replace_id": "" }, "HP:0040309": { "name": [ "increased size of the mandible", "increase size of the mandible" ], "alt_id": [], "def": "", "synonym": [ [ "large jaw", "large jaw" ] ], "xref": [], "is_a": [ "HP:0000277" ], "is_obsolete": "", "replace_id": "" }, "HP:0040310": { "name": [ "sterile arthritis", "sterile arthritis" ], "alt_id": [], "def": "An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.", "synonym": [], "xref": [], "is_a": [ "HP:0001369" ], "is_obsolete": "", "replace_id": "" }, "HP:0040311": { "name": [ "symmetric polyarthritis", "symmetric polyarthritis" ], "alt_id": [], "def": "Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion.", "synonym": [], "xref": [], "is_a": [ "HP:0001369" ], "is_obsolete": "", "replace_id": "" }, "HP:0040312": { "name": [ "temporomandibular arthritis", "temporomandibular arthritis" ], "alt_id": [], "def": "", "synonym": [ [ "arthritis of temporomandibular joint", "arthritis of temporomandibular joint" ] ], "xref": [], "is_a": [ "HP:0001369" ], "is_obsolete": "", "replace_id": "" }, "HP:0040313": { "name": [ "oligoarthritis", "oligoarthritis" ], "alt_id": [], "def": "A type of arthritis that affects up to four joints in the first six months of disease.", "synonym": [], "xref": [], "is_a": [ "HP:0001369" ], "is_obsolete": "", "replace_id": "" }, "HP:0040314": { "name": [ "blind vagina", "blind vagina" ], "alt_id": [], "def": "The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.", "synonym": [ [ "blind - ended vagina", "blind - end vagina" ] ], "xref": [], "is_a": [ "HP:0000142" ], "is_obsolete": "", "replace_id": "" }, "HP:0040315": { "name": [ "tongue edema", "tongue edema" ], "alt_id": [], "def": "An abnormal accumulation of fluid and swelling in the tongue.", "synonym": [ [ "tongue oedema", "tongue oedema" ] ], "xref": [], "is_a": [ "HP:0000157", "HP:0000969" ], "is_obsolete": "", "replace_id": "" }, "HP:0040316": { "name": [ "obsolete aplasia of the penis", "obsolete aplasia of the penis" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0030261" }, "HP:0040317": { "name": [ "blue urine", "blue urine" ], "alt_id": [], "def": "An abnormal blue color of the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0012086" ], "is_obsolete": "", "replace_id": "" }, "HP:0040318": { "name": [ "red urine", "red urine" ], "alt_id": [], "def": "An abnormal red color of the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0012086" ], "is_obsolete": "", "replace_id": "" }, "HP:0040319": { "name": [ "dark urine", "dark urine" ], "alt_id": [], "def": "An abnormal dark color of the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0012086" ], "is_obsolete": "", "replace_id": "" }, "HP:0040320": { "name": [ "red - brown urine", "red - brown urine" ], "alt_id": [], "def": "An abnormal red-brown color of the urine.", "synonym": [ [ "red brown urine", "red brown urine" ] ], "xref": [], "is_a": [ "HP:0012086" ], "is_obsolete": "", "replace_id": "" }, "HP:0040321": { "name": [ "dark yellow urine", "dark yellow urine" ], "alt_id": [], "def": "An abnormal dark-yellow color of the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0012086" ], "is_obsolete": "", "replace_id": "" }, "HP:0040322": { "name": [ "purple urine", "purple urine" ], "alt_id": [], "def": "An abnormal purple color of the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0012086" ], "is_obsolete": "", "replace_id": "" }, "HP:0040323": { "name": [ "erythema of the eyelids", "erythema of the eyelid" ], "alt_id": [], "def": "Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin.", "synonym": [ [ "erythema of eyelid", "erythema of eyelid" ], [ "eyelid erythema", "eyelid erythema" ] ], "xref": [], "is_a": [ "HP:0000492", "HP:0010783" ], "is_obsolete": "", "replace_id": "" }, "HP:0040324": { "name": [ "heliotrope rash", "heliotrope rash" ], "alt_id": [], "def": "In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.", "synonym": [ [ "heliotrope erythema", "heliotrope erythema" ] ], "xref": [], "is_a": [ "HP:0000988" ], "is_obsolete": "", "replace_id": "" }, "HP:0040325": { "name": [ "bull 's eye rash", "bull 's eye rash" ], "alt_id": [], "def": "A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings.", "synonym": [], "xref": [], "is_a": [ "HP:0000988" ], "is_obsolete": "", "replace_id": "" }, "HP:0040326": { "name": [ "hypoplasia of the olfactory bulb", "hypoplasia of the olfactory bulb" ], "alt_id": [], "def": "Underdevelopment of the olfactory bulb.", "synonym": [ [ "hypoplasia of olfactory bulb", "hypoplasia of olfactory bulb" ], [ "hypoplastic olfactory bulb", "hypoplastic olfactory bulb" ] ], "xref": [], "is_a": [ "HP:0002977", "HP:0040327" ], "is_obsolete": "", "replace_id": "" }, "HP:0040327": { "name": [ "abnormal morphology of the olfactory bulb", "abnormal morphology of the olfactory bulb" ], "alt_id": [], "def": "An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.", "synonym": [], "xref": [], "is_a": [ "HP:0100547" ], "is_obsolete": "", "replace_id": "" }, "HP:0040328": { "name": [ "focal hyperintensity of cerebral white matter on mri", "focal hyperintensity of cerebral white matter on mri" ], "alt_id": [], "def": "An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.", "synonym": [], "xref": [], "is_a": [ "HP:0007042", "HP:0030890" ], "is_obsolete": "", "replace_id": "" }, "HP:0040329": { "name": [ "multifocal hyperintensity of cerebral white matter on mri", "multifocal hyperintensity of cerebral white matter on mri" ], "alt_id": [], "def": "An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas.", "synonym": [], "xref": [], "is_a": [ "HP:0007052", "HP:0030890" ], "is_obsolete": "", "replace_id": "" }, "HP:0040330": { "name": [ "confluent hyperintensity of cerebral white matter on mri", "confluent hyperintensity of cerebral white matter on mri" ], "alt_id": [], "def": "Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.", "synonym": [], "xref": [], "is_a": [ "HP:0007204", "HP:0030890" ], "is_obsolete": "", "replace_id": "" }, "HP:0040331": { "name": [ "focal hypointensity of cerebral white matter on mri", "focal hypointensity of cerebral white matter on mri" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0007042", "HP:0007103" ], "is_obsolete": "", "replace_id": "" }, "HP:0040332": { "name": [ "multifocal hypointensity of cerebral white matter on mri", "multifocal hypointensity of cerebral white matter on mri" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0007052", "HP:0007103" ], "is_obsolete": "", "replace_id": "" }, "HP:0040333": { "name": [ "confluent hypointensity of cerebral white matter on mri", "confluent hypointensity of cerebral white matter on mri" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0007103", "HP:0007204" ], "is_obsolete": "", "replace_id": "" }, "HP:0040334": { "name": [ "purulent rhinitis", "purulent rhinitis" ], "alt_id": [], "def": "Chronic rhinitis accompanied by pus formation.", "synonym": [], "xref": [], "is_a": [ "HP:0002257" ], "is_obsolete": "", "replace_id": "" }, "HP:0041042": { "name": [ "absent neutrophil lactoferrin", "absent neutrophil lactoferrin" ], "alt_id": [], "def": "The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production.", "synonym": [], "xref": [], "is_a": [ "HP:0012551" ], "is_obsolete": "", "replace_id": "" }, "HP:0041043": { "name": [ "neutrophil nuclear clefts", "neutrophil nuclear cleft" ], "alt_id": [], "def": "An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.", "synonym": [], "xref": [], "is_a": [ "HP:0410310" ], "is_obsolete": "", "replace_id": "" }, "HP:0041044": { "name": [ "low neutrophil alkaline phosphatase", "low neutrophil alkaline phosphatase" ], "alt_id": [], "def": "An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.", "synonym": [], "xref": [], "is_a": [ "HP:0003282" ], "is_obsolete": "", "replace_id": "" }, "HP:0041045": { "name": [ "increased neutrophil mitochondria", "increase neutrophil mitochondrion" ], "alt_id": [], "def": "An increased number of mitochondria detected in neutrophils.", "synonym": [], "xref": [], "is_a": [ "HP:0011992" ], "is_obsolete": "", "replace_id": "" }, "HP:0041046": { "name": [ "increased neutrophil ribosomes", "increase neutrophil ribosome" ], "alt_id": [], "def": "An increased number of ribosomes detected in neutrophils.", "synonym": [], "xref": [], "is_a": [ "HP:0011992" ], "is_obsolete": "", "replace_id": "" }, "HP:0041047": { "name": [ "bladder outlet obstruction", "bladder outlet obstruction" ], "alt_id": [], "def": "A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS).", "synonym": [ [ "obstruction of bladder outlet", "obstruction of bladder outlet" ] ], "xref": [], "is_a": [ "HP:0000009" ], "is_obsolete": "", "replace_id": "" }, "HP:0041048": { "name": [ "decreased expression of gpi - anchored proteins on the cell surface", "decreased expression of gpi - anchored protein on the cell surface" ], "alt_id": [], "def": "A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis.", "synonym": [], "xref": [], "is_a": [ "HP:0031551" ], "is_obsolete": "", "replace_id": "" }, "HP:0041049": { "name": [ "starch intolerance", "starch intolerance" ], "alt_id": [], "def": "An inability to digest starch.", "synonym": [ [ "amylose - amylopectin intolerance", "amylose - amylopectin intolerance" ], [ "starch intolerance", "starch intolerance" ] ], "xref": [], "is_a": [ "HP:0002024" ], "is_obsolete": "", "replace_id": "" }, "HP:0041050": { "name": [ "renal tubular cyst", "renal tubular cyst" ], "alt_id": [], "def": "Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells.", "synonym": [ [ "renal tubule cyst", "renal tubule cyst" ] ], "xref": [], "is_a": [ "HP:0000091", "HP:0000107" ], "is_obsolete": "", "replace_id": "" }, "HP:0041051": { "name": [ "ageusia", "ageusia" ], "alt_id": [], "def": "A rare condition that is characterized by a complete loss of taste function of the tongue.", "synonym": [ [ "absent sense of taste", "absent sense of taste" ], [ "impaired taste sensation", "impaired taste sensation" ], [ "lost taste", "lose taste" ] ], "xref": [], "is_a": [ "HP:0000223" ], "is_obsolete": "", "replace_id": "" }, "HP:0041052": { "name": [ "agenesis of putamen", "agenesis of putamen" ], "alt_id": [], "def": "A developmental defect characterized by the absence of the putamen owing to its failure to develop.", "synonym": [], "xref": [], "is_a": [ "HP:0031982" ], "is_obsolete": "", "replace_id": "" }, "HP:0041053": { "name": [ "fractured head", "fracture head" ], "alt_id": [], "def": "A partial or complete breakage of the head.", "synonym": [ [ "bone head", "bone head" ] ], "xref": [], "is_a": [ "HP:0000234" ], "is_obsolete": "", "replace_id": "" }, "HP:0041054": { "name": [ "obsolete fractured thoracic segment of trunk", "obsolete fracture thoracic segment of trunk" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0041055": { "name": [ "fractured humerus", "fracture humerus" ], "alt_id": [], "def": "A partial or complete breakage of the humerus.", "synonym": [ [ "bone humerus", "bone humerus" ], [ "broken humerus", "break humerus" ], [ "fracture of the humerus", "fracture of the humerus" ], [ "humeral fracture", "humeral fracture" ], [ "humerus fracture", "humerus fracture" ] ], "xref": [], "is_a": [ "HP:0003084", "HP:0031095", "HP:0041245" ], "is_obsolete": "", "replace_id": "" }, "HP:0041056": { "name": [ "hot cross bun sign", "hot cross bun sign" ], "alt_id": [], "def": "A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI).", "synonym": [], "xref": [], "is_a": [ "HP:0007361" ], "is_obsolete": "", "replace_id": "" }, "HP:0041057": { "name": [ "transient decreased circulating igg4", "transient decrease circulate igg4" ], "alt_id": [], "def": "A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation.", "synonym": [ [ "transient decreased igg4 in blood", "transient decrease igg4 in blood" ] ], "xref": [], "is_a": [ "HP:0032138" ], "is_obsolete": "", "replace_id": "" }, "HP:0041058": { "name": [ "chronic decreased circulating igg4", "chronic decrease circulate igg4" ], "alt_id": [], "def": "A lasting decrease of immunoglobulin G4 (IgG4) in the blood.", "synonym": [ [ "chronic decreased igg4 in blood", "chronic decrease igg4 in blood" ] ], "xref": [], "is_a": [ "HP:0032138" ], "is_obsolete": "", "replace_id": "" }, "HP:0041059": { "name": [ "chronic ( near ) absent circulating igg4", "chronic ( near ) absent circulate igg4" ], "alt_id": [], "def": "A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured.", "synonym": [ [ "chronic ( near ) absent igg4 in blood", "chronic ( near ) absent igg4 in blood" ] ], "xref": [], "is_a": [ "HP:0041058" ], "is_obsolete": "", "replace_id": "" }, "HP:0041060": { "name": [ "chronic partially decreased circulating igg4", "chronic partially decrease circulating igg4" ], "alt_id": [], "def": "A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood.", "synonym": [ [ "chronic partially decreased igg4 in blood", "chronic partially decrease igg4 in blood" ] ], "xref": [], "is_a": [ "HP:0041058" ], "is_obsolete": "", "replace_id": "" }, "HP:0041061": { "name": [ "fractured calcaneus", "fracture calcaneus" ], "alt_id": [], "def": "A partial or complete breakage of the calcaneus.", "synonym": [ [ "bone calcaneus", "bone calcaneus" ] ], "xref": [], "is_a": [ "HP:0008364", "HP:0041247" ], "is_obsolete": "", "replace_id": "" }, "HP:0041062": { "name": [ "transient decreased circulating igg2", "transient decrease circulate igg2" ], "alt_id": [], "def": "A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation.", "synonym": [ [ "transient decreased igg2 in blood", "transient decrease igg2 in blood" ] ], "xref": [], "is_a": [ "HP:0008348" ], "is_obsolete": "", "replace_id": "" }, "HP:0041063": { "name": [ "chronic decreased cirulating igg2", "chronic decrease cirulating igg2" ], "alt_id": [], "def": "A lasting decrease of immunoglobulin G2 (IgG2) in the blood.", "synonym": [ [ "chronic decreased igg2 in blood", "chronic decrease igg2 in blood" ] ], "xref": [], "is_a": [ "HP:0008348" ], "is_obsolete": "", "replace_id": "" }, "HP:0041064": { "name": [ "fractured knee", "fracture knee" ], "alt_id": [], "def": "A partial or complete breakage of the knee.", "synonym": [ [ "bone knee", "bone knee" ] ], "xref": [], "is_a": [ "HP:0002815", "HP:0041117" ], "is_obsolete": "", "replace_id": "" }, "HP:0041065": { "name": [ "chronic ( near ) absent circulating igg2", "chronic ( near ) absent circulate igg2" ], "alt_id": [], "def": "A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured.", "synonym": [ [ "chronic ( near ) absent igg2 in blood", "chronic ( near ) absent igg2 in blood" ] ], "xref": [], "is_a": [ "HP:0041063" ], "is_obsolete": "", "replace_id": "" }, "HP:0041066": { "name": [ "chronic partially decreased circulating igg2", "chronic partially decrease circulating igg2" ], "alt_id": [], "def": "A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood.", "synonym": [ [ "chronic partially decreased igg2 in blood", "chronic partially decrease igg2 in blood" ] ], "xref": [], "is_a": [ "HP:0041063" ], "is_obsolete": "", "replace_id": "" }, "HP:0041067": { "name": [ "transient decreased circulating igg1", "transient decrease circulate igg1" ], "alt_id": [], "def": "A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation.", "synonym": [ [ "transient decreased igg1 in blood", "transient decrease igg1 in blood" ] ], "xref": [], "is_a": [ "HP:0032136" ], "is_obsolete": "", "replace_id": "" }, "HP:0041068": { "name": [ "chronic decreased circulating igg1", "chronic decrease circulate igg1" ], "alt_id": [], "def": "A lasting decrease of immunoglobulin G1 (IgG1) in the blood.", "synonym": [ [ "chronic decreased igg1 in blood", "chronic decrease igg1 in blood" ] ], "xref": [], "is_a": [ "HP:0032136" ], "is_obsolete": "", "replace_id": "" }, "HP:0041069": { "name": [ "chronic ( near ) absent circulating igg1", "chronic ( near ) absent circulate igg1" ], "alt_id": [], "def": "A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured.", "synonym": [ [ "chronic ( near ) absent igg1 in blood", "chronic ( near ) absent igg1 in blood" ] ], "xref": [], "is_a": [ "HP:0041068" ], "is_obsolete": "", "replace_id": "" }, "HP:0041070": { "name": [ "chronic partially decreased circulating igg1", "chronic partially decrease circulating igg1" ], "alt_id": [], "def": "A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood.", "synonym": [ [ "chronic partially decreased igg1 in blood", "chronic partially decrease igg1 in blood" ] ], "xref": [], "is_a": [ "HP:0041068" ], "is_obsolete": "", "replace_id": "" }, "HP:0041071": { "name": [ "transient decreased circulating igg3", "transient decrease circulate igg3" ], "alt_id": [], "def": "A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation.", "synonym": [ [ "transient decreased igg3 in blood", "transient decrease igg3 in blood" ] ], "xref": [], "is_a": [ "HP:0032137" ], "is_obsolete": "", "replace_id": "" }, "HP:0041072": { "name": [ "chronic decreased circulating igg3", "chronic decrease circulate igg3" ], "alt_id": [], "def": "A lasting decrease of immunoglobulin G3 (IgG3) in the blood.", "synonym": [ [ "chronic decreased igg3 in blood", "chronic decrease igg3 in blood" ] ], "xref": [], "is_a": [ "HP:0032137" ], "is_obsolete": "", "replace_id": "" }, "HP:0041073": { "name": [ "fractured thoracic vertebra", "fracture thoracic vertebra" ], "alt_id": [], "def": "A partial or complete breakage of the thoracic vertebra.", "synonym": [ [ "bone thoracic vertebra", "bone thoracic vertebra" ] ], "xref": [], "is_a": [ "HP:0041166", "HP:0100711" ], "is_obsolete": "", "replace_id": "" }, "HP:0041074": { "name": [ "chronic ( near ) absent circulating igg3", "chronic ( near ) absent circulate igg3" ], "alt_id": [], "def": "A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured.", "synonym": [ [ "chronic ( near ) absent igg3 in blood", "chronic ( near ) absent igg3 in blood" ] ], "xref": [], "is_a": [ "HP:0041072" ], "is_obsolete": "", "replace_id": "" }, "HP:0041075": { "name": [ "chronic partially decreased circulating igg3", "chronic partially decrease circulating igg3" ], "alt_id": [], "def": "A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood.", "synonym": [ [ "chronic partially decreased igg3 in blood", "chronic partially decrease igg3 in blood" ] ], "xref": [], "is_a": [ "HP:0041072" ], "is_obsolete": "", "replace_id": "" }, "HP:0041076": { "name": [ "abnormal immunoglobulin level in body fluid", "abnormal immunoglobulin level in body fluid" ], "alt_id": [], "def": "An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous.", "synonym": [], "xref": [], "is_a": [ "HP:0005372" ], "is_obsolete": "", "replace_id": "" }, "HP:0041077": { "name": [ "increased immunoglobulin level in body fluid", "increase immunoglobulin level in body fluid" ], "alt_id": [], "def": "An elevation from normal levels of immunoglobulins in body fluids, such as mucous.", "synonym": [], "xref": [], "is_a": [ "HP:0041076" ], "is_obsolete": "", "replace_id": "" }, "HP:0041078": { "name": [ "decreased immunoglobulin level in body fluid", "decrease immunoglobulin level in body fluid" ], "alt_id": [], "def": "An reduction from normal levels of immunoglobulins in body fluids, such as mucous.", "synonym": [], "xref": [], "is_a": [ "HP:0041076" ], "is_obsolete": "", "replace_id": "" }, "HP:0041079": { "name": [ "decreased body fat percentage", "decrease body fat percentage" ], "alt_id": [], "def": "The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males.", "synonym": [ [ "decreased adipose tissue percentage", "decrease adipose tissue percentage" ] ], "xref": [], "is_a": [ "HP:0001507" ], "is_obsolete": "", "replace_id": "" }, "HP:0041080": { "name": [ "abnormal proportion of exhausted t cells", "abnormal proportion of exhausted t cell" ], "alt_id": [], "def": "A deviation from the normal proportion of exhausted T cell relative to T cell in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0025540" ], "is_obsolete": "", "replace_id": "" }, "HP:0041081": { "name": [ "fractured lower leg", "fracture low leg" ], "alt_id": [], "def": "Bone fracture anywhere in the tibia, fibula, or ankle.", "synonym": [ [ "fracture of the lower leg", "fracture of the low leg" ], [ "lower extremity fracture", "low extremity fracture" ], [ "lower limb fracture", "low limb fracture" ] ], "xref": [], "is_a": [ "HP:0041235" ], "is_obsolete": "", "replace_id": "" }, "HP:0041082": { "name": [ "fractured skull", "fracture skull" ], "alt_id": [], "def": "A partial or complete breakage of the skull.", "synonym": [ [ "bone skull", "bone skull" ] ], "xref": [], "is_a": [ "HP:0000929" ], "is_obsolete": "", "replace_id": "" }, "HP:0041083": { "name": [ "fractured phalanx", "fracture phalanx" ], "alt_id": [], "def": "A partial or complete breakage of the phalanx.", "synonym": [ [ "bone phalanx", "bone phalanx" ] ], "xref": [], "is_a": [ "HP:0003084", "HP:0011297" ], "is_obsolete": "", "replace_id": "" }, "HP:0041084": { "name": [ "compression - fractured thoracic vertebra", "compression - fracture thoracic vertebra" ], "alt_id": [], "def": "A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.", "synonym": [ [ "compression fractured thoracic vertebra", "compression fracture thoracic vertebra" ], [ "wedge fractured thoracic vertebra", "wedge fracture thoracic vertebra" ] ], "xref": [], "is_a": [ "HP:0041073" ], "is_obsolete": "", "replace_id": "" }, "HP:0041085": { "name": [ "compression - fractured vertebra", "compression - fracture vertebra" ], "alt_id": [], "def": "A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.", "synonym": [ [ "compression fractured vertebra", "compression fracture vertebra" ], [ "wedge fractured vertebra", "wedge fracture vertebra" ] ], "xref": [], "is_a": [ "HP:0041166" ], "is_obsolete": "", "replace_id": "" }, "HP:0041086": { "name": [ "compression - fractured cervical vertebra", "compression - fractured cervical vertebra" ], "alt_id": [], "def": "A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.", "synonym": [ [ "compression fractured cervical vertebra", "compression fracture cervical vertebra" ], [ "wedge fractured cervical vertebra", "wedge fracture cervical vertebra" ] ], "xref": [], "is_a": [ "HP:0041167" ], "is_obsolete": "", "replace_id": "" }, "HP:0041087": { "name": [ "compression - fractured lumbar vertebra", "compression - fracture lumbar vertebra" ], "alt_id": [], "def": "A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.", "synonym": [ [ "compression fractured lumbar vertebra", "compression fracture lumbar vertebra" ], [ "wedge fractured lumbar vertebra", "wedge fracture lumbar vertebra" ] ], "xref": [], "is_a": [ "HP:0041168" ], "is_obsolete": "", "replace_id": "" }, "HP:0041088": { "name": [ "avulsion fractured humerus", "avulsion fracture humerus" ], "alt_id": [], "def": "A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma.", "synonym": [], "xref": [], "is_a": [ "HP:0041055" ], "is_obsolete": "", "replace_id": "" }, "HP:0041089": { "name": [ "avulsion fractured tibia", "avulsion fracture tibia" ], "alt_id": [], "def": "A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma.", "synonym": [], "xref": [], "is_a": [ "HP:0041143" ], "is_obsolete": "", "replace_id": "" }, "HP:0041090": { "name": [ "obsolete avulsion fractured pelvic region of trunk", "obsolete avulsion fracture pelvic region of trunk" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0041091": { "name": [ "avulsion fractured epiphysis of femur", "avulsion fracture epiphysis of femur" ], "alt_id": [], "def": "A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma.", "synonym": [], "xref": [], "is_a": [ "HP:0041189" ], "is_obsolete": "", "replace_id": "" }, "HP:0041092": { "name": [ "emotional hypersensitivity", "emotional hypersensitivity" ], "alt_id": [], "def": "Heightened emotional reactivity to environmental stimuli, including emotions of others.", "synonym": [ [ "highly sensitive", "highly sensitive" ], [ "hypersensitivity", "hypersensitivity" ], [ "overly sensitive", "overly sensitive" ] ], "xref": [], "is_a": [ "HP:0100851" ], "is_obsolete": "", "replace_id": "" }, "HP:0041093": { "name": [ "beau 's lines", "beau 's line" ], "alt_id": [], "def": "A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease.", "synonym": [ [ "beau lines", "beau line" ], [ "ladder nail", "ladder nail" ], [ "ladder nail sign", "ladder nail sign" ] ], "xref": [], "is_a": [ "HP:0008404" ], "is_obsolete": "", "replace_id": "" }, "HP:0041094": { "name": [ "complete tracheal ring", "complete tracheal ring" ], "alt_id": [], "def": "Continuous or nearly continuous configuration of the cartilaginous tracheal ring.", "synonym": [ [ "complete tracheal ring deformity", "complete tracheal ring deformity" ], [ "complete tracheal rings", "complete tracheal ring" ] ], "xref": [], "is_a": [ "HP:0004468" ], "is_obsolete": "", "replace_id": "" }, "HP:0041114": { "name": [ "fractured metaphysis of femur", "fractured metaphysis of femur" ], "alt_id": [], "def": "A partial or complete breakage of the metaphysis of femur.", "synonym": [ [ "bone metaphysis of femur", "bone metaphysis of femur" ] ], "xref": [], "is_a": [ "HP:0003084", "HP:0006489" ], "is_obsolete": "", "replace_id": "" }, "HP:0041115": { "name": [ "fractured right clavicle", "fracture right clavicle" ], "alt_id": [], "def": "A partial or complete breakage of the right clavicle.", "synonym": [ [ "bone right clavicle", "bone right clavicle" ] ], "xref": [], "is_a": [ "HP:0041144" ], "is_obsolete": "", "replace_id": "" }, "HP:0041116": { "name": [ "fractured left clavicle", "fracture leave clavicle" ], "alt_id": [], "def": "A partial or complete breakage of the left clavicle.", "synonym": [ [ "bone left clavicle", "bone leave clavicle" ] ], "xref": [], "is_a": [ "HP:0041144" ], "is_obsolete": "", "replace_id": "" }, "HP:0041117": { "name": [ "fractured lower limb segment", "fracture low limb segment" ], "alt_id": [], "def": "A partial or complete breakage of the lower limb segment.", "synonym": [ [ "bone lower limb segment", "bone low limb segment" ] ], "xref": [], "is_a": [ "HP:0040064" ], "is_obsolete": "", "replace_id": "" }, "HP:0041118": { "name": [ "fractured upper limb segment", "fracture upper limb segment" ], "alt_id": [], "def": "A partial or complete breakage of the upper limb segment.", "synonym": [ [ "bone upper limb segment", "bone upper limb segment" ] ], "xref": [], "is_a": [ "HP:0040064" ], "is_obsolete": "", "replace_id": "" }, "HP:0041119": { "name": [ "fractured metacarpus skeleton", "fracture metacarpus skeleton" ], "alt_id": [], "def": "A partial or complete breakage of the metacarpus skeleton.", "synonym": [ [ "bone metacarpus skeleton", "bone metacarpus skeleton" ] ], "xref": [], "is_a": [ "HP:0004277" ], "is_obsolete": "", "replace_id": "" }, "HP:0041121": { "name": [ "fractured epiphysis of fifth metacarpal bone", "fractured epiphysis of fifth metacarpal bone" ], "alt_id": [], "def": "A partial or complete breakage of the epiphysis of fifth metacarpal bone.", "synonym": [ [ "bone epiphysis of fifth metacarpal bone", "bone epiphysis of fifth metacarpal bone" ] ], "xref": [], "is_a": [ "HP:0009189", "HP:0010226", "HP:0041147" ], "is_obsolete": "", "replace_id": "" }, "HP:0041143": { "name": [ "fractured tibia", "fracture tibia" ], "alt_id": [], "def": "A partial or complete breakage of the tibia.", "synonym": [ [ "bone tibia", "bone tibia" ], [ "broken tibia", "break tibia" ], [ "fracture of the tibia", "fracture of the tibia" ], [ "tibial fracture", "tibial fracture" ] ], "xref": [], "is_a": [ "HP:0002992", "HP:0003084", "HP:0041235" ], "is_obsolete": "", "replace_id": "" }, "HP:0041144": { "name": [ "fractured clavicle bone", "fracture clavicle bone" ], "alt_id": [], "def": "A partial or complete breakage of the clavicle bone.", "synonym": [ [ "bone clavicle bone", "bone clavicle bone" ] ], "xref": [], "is_a": [ "HP:0000889", "HP:0003084" ], "is_obsolete": "", "replace_id": "" }, "HP:0041145": { "name": [ "fractured acetabular part of hip bone", "fracture acetabular part of hip bone" ], "alt_id": [], "def": "A partial or complete breakage of the acetabular part of hip bone.", "synonym": [ [ "bone acetabular part of hip bone", "bone acetabular part of hip bone" ] ], "xref": [], "is_a": [ "HP:0003170", "HP:0020110" ], "is_obsolete": "", "replace_id": "" }, "HP:0041146": { "name": [ "fractured coccyx", "fracture coccyx" ], "alt_id": [], "def": "A partial or complete breakage of the coccyx.", "synonym": [ [ "bone coccyx", "bone coccyx" ] ], "xref": [], "is_a": [ "HP:0008519", "HP:0020110" ], "is_obsolete": "", "replace_id": "" }, "HP:0041147": { "name": [ "fractured epiphysis", "fracture epiphysis" ], "alt_id": [], "def": "A partial or complete breakage of the epiphysis.", "synonym": [ [ "bone epiphysis", "bone epiphysis" ] ], "xref": [], "is_a": [ "HP:0003084", "HP:0100168" ], "is_obsolete": "", "replace_id": "" }, "HP:0041149": { "name": [ "fractured navicular bone of pes", "fracture navicular bone of pe" ], "alt_id": [], "def": "A partial or complete breakage of the navicular bone of pes.", "synonym": [ [ "bone navicular bone of pes", "bone navicular bone of pe" ] ], "xref": [], "is_a": [ "HP:0041247", "HP:0100339" ], "is_obsolete": "", "replace_id": "" }, "HP:0041150": { "name": [ "fractured cuboid bone", "fracture cuboid bone" ], "alt_id": [], "def": "A partial or complete breakage of the cuboid bone.", "synonym": [ [ "bone cuboid bone", "bone cuboid bone" ] ], "xref": [], "is_a": [ "HP:0041226" ], "is_obsolete": "", "replace_id": "" }, "HP:0041152": { "name": [ "fractured sternoclavicular joint", "fracture sternoclavicular joint" ], "alt_id": [], "def": "A partial or complete breakage of the sternoclavicular joint.", "synonym": [ [ "bone sternoclavicular joint", "bone sternoclavicular joint" ] ], "xref": [], "is_a": [ "HP:0009810" ], "is_obsolete": "", "replace_id": "" }, "HP:0041153": { "name": [ "fractured ankle", "fracture ankle" ], "alt_id": [], "def": "A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot).", "synonym": [ [ "bone ankle joint", "bone ankle joint" ] ], "xref": [], "is_a": [ "HP:0020110", "HP:0100491" ], "is_obsolete": "", "replace_id": "" }, "HP:0041154": { "name": [ "fractured elbow joint", "fracture elbow joint" ], "alt_id": [], "def": "A partial or complete breakage of the elbow joint.", "synonym": [ [ "bone elbow joint", "bone elbow joint" ] ], "xref": [], "is_a": [ "HP:0009811" ], "is_obsolete": "", "replace_id": "" }, "HP:0041155": { "name": [ "fractured mandible", "fracture mandible" ], "alt_id": [], "def": "A partial or complete breakage of the mandible.", "synonym": [ [ "bone mandible", "bone mandible" ] ], "xref": [], "is_a": [ "HP:0000277", "HP:0041234" ], "is_obsolete": "", "replace_id": "" }, "HP:0041156": { "name": [ "fractured orbit of skull", "fractured orbit of skull" ], "alt_id": [], "def": "A partial or complete breakage of the orbit of skull.", "synonym": [ [ "bone orbit of skull", "bone orbit of skull" ] ], "xref": [], "is_a": [ "HP:3000030" ], "is_obsolete": "", "replace_id": "" }, "HP:0041157": { "name": [ "fractured larynx", "fracture larynx" ], "alt_id": [], "def": "A partial or complete breakage of the larynx.", "synonym": [ [ "bone larynx", "bone larynx" ] ], "xref": [], "is_a": [ "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0041158": { "name": [ "obsolete fractured trunk", "obsolete fracture trunk" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0041159": { "name": [ "fractured rib", "fracture rib" ], "alt_id": [], "def": "A partial or complete breakage of the rib.", "synonym": [ [ "bone rib", "bone rib" ] ], "xref": [], "is_a": [ "HP:0000772", "HP:0003084" ], "is_obsolete": "", "replace_id": "" }, "HP:0041161": { "name": [ "obsolete fractured pelvic region of trunk", "obsolete fracture pelvic region of trunk" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0041162": { "name": [ "fractured foot bone", "fractured foot bone" ], "alt_id": [], "def": "A partial or complete breakage of the foot bone, such as the metatarsal or toe.", "synonym": [ [ "bone pes", "bone pe" ], [ "broken foot", "broken foot" ], [ "fractured pes", "fracture pe" ], [ "metatarsal fracture", "metatarsal fracture" ] ], "xref": [], "is_a": [ "HP:0001760", "HP:0020110", "HP:0041117" ], "is_obsolete": "", "replace_id": "" }, "HP:0041163": { "name": [ "fractured manual digit", "fracture manual digit" ], "alt_id": [], "def": "A partial or complete breakage of the manual digit.", "synonym": [ [ "bone manual digit", "bone manual digit" ] ], "xref": [], "is_a": [ "HP:0001167", "HP:0005922" ], "is_obsolete": "", "replace_id": "" }, "HP:0041164": { "name": [ "fractured talus", "fracture talus" ], "alt_id": [], "def": "A partial or complete breakage of the talus.", "synonym": [ [ "bone talus", "bone talus" ] ], "xref": [], "is_a": [ "HP:0008365", "HP:0041247" ], "is_obsolete": "", "replace_id": "" }, "HP:0041165": { "name": [ "fractured maxilla", "fracture maxilla" ], "alt_id": [], "def": "A partial or complete breakage of the maxilla.", "synonym": [ [ "bone maxilla", "bone maxilla" ] ], "xref": [], "is_a": [ "HP:0000326", "HP:0041234" ], "is_obsolete": "", "replace_id": "" }, "HP:0041166": { "name": [ "fractured vertebra", "fracture vertebra" ], "alt_id": [], "def": "A partial or complete breakage of the vertebra.", "synonym": [ [ "bone vertebra", "bone vertebra" ] ], "xref": [], "is_a": [ "HP:0003468", "HP:0020110" ], "is_obsolete": "", "replace_id": "" }, "HP:0041167": { "name": [ "fractured cervical vertebra", "fractured cervical vertebra" ], "alt_id": [], "def": "A partial or complete breakage of the cervical vertebra.", "synonym": [ [ "bone cervical vertebra", "bone cervical vertebra" ] ], "xref": [], "is_a": [ "HP:0041166", "HP:0046508" ], "is_obsolete": "", "replace_id": "" }, "HP:0041168": { "name": [ "fractured lumbar vertebra", "fracture lumbar vertebra" ], "alt_id": [], "def": "A partial or complete breakage of the lumbar vertebra.", "synonym": [ [ "bone lumbar vertebra", "bone lumbar vertebra" ] ], "xref": [], "is_a": [ "HP:0041166", "HP:0100712" ], "is_obsolete": "", "replace_id": "" }, "HP:0041172": { "name": [ "fractured fused sacrum", "fracture fuse sacrum" ], "alt_id": [], "def": "A partial or complete breakage of the fused sacrum.", "synonym": [ [ "bone fused sacrum", "bone fuse sacrum" ] ], "xref": [], "is_a": [ "HP:0005107", "HP:0020110" ], "is_obsolete": "", "replace_id": "" }, "HP:0041173": { "name": [ "fractured metacarpophalangeal joint", "fracture metacarpophalangeal joint" ], "alt_id": [], "def": "A partial or complete breakage of the metacarpophalangeal joint.", "synonym": [ [ "bone metacarpophalangeal joint", "bone metacarpophalangeal joint" ] ], "xref": [], "is_a": [ "HP:0005922", "HP:0009810", "HP:0011911" ], "is_obsolete": "", "replace_id": "" }, "HP:0041174": { "name": [ "fractured distal phalanx of manus", "fracture distal phalanx of manus" ], "alt_id": [], "def": "A partial or complete breakage of the distal phalanx of manus.", "synonym": [ [ "bone distal phalanx of manus", "bone distal phalanx of manus" ] ], "xref": [], "is_a": [ "HP:0009832", "HP:0041218", "HP:0041241" ], "is_obsolete": "", "replace_id": "" }, "HP:0041175": { "name": [ "fractured middle phalanx of pes", "fracture middle phalanx of pe" ], "alt_id": [], "def": "A partial or complete breakage of the middle phalanx of pes.", "synonym": [ [ "bone middle phalanx of pes", "bone middle phalanx of pe" ] ], "xref": [], "is_a": [ "HP:0010183", "HP:0041240" ], "is_obsolete": "", "replace_id": "" }, "HP:0041176": { "name": [ "fractured distal phalanx of manual digit 2", "fracture distal phalanx of manual digit 2" ], "alt_id": [], "def": "A partial or complete breakage of the distal phalanx of manual digit 2.", "synonym": [ [ "bone distal phalanx of manual digit 2", "bone distal phalanx of manual digit 2" ] ], "xref": [], "is_a": [ "HP:0009542", "HP:0041174" ], "is_obsolete": "", "replace_id": "" }, "HP:0041177": { "name": [ "fractured distal phalanx of manual digit 3", "fracture distal phalanx of manual digit 3" ], "alt_id": [], "def": "A partial or complete breakage of the distal phalanx of manual digit 3.", "synonym": [ [ "bone distal phalanx of manual digit 3", "bone distal phalanx of manual digit 3" ] ], "xref": [], "is_a": [ "HP:0009357", "HP:0041174" ], "is_obsolete": "", "replace_id": "" }, "HP:0041178": { "name": [ "fractured distal phalanx of manual digit 4", "fracture distal phalanx of manual digit 4" ], "alt_id": [], "def": "A partial or complete breakage of the distal phalanx of manual digit 4.", "synonym": [ [ "bone distal phalanx of manual digit 4", "bone distal phalanx of manual digit 4" ] ], "xref": [], "is_a": [ "HP:0009282", "HP:0041174" ], "is_obsolete": "", "replace_id": "" }, "HP:0041179": { "name": [ "fractured distal phalanx of manual digit 5", "fracture distal phalanx of manual digit 5" ], "alt_id": [], "def": "A partial or complete breakage of the distal phalanx of manual digit 5.", "synonym": [ [ "bone distal phalanx of manual digit 5", "bone distal phalanx of manual digit 5" ] ], "xref": [], "is_a": [ "HP:0004225", "HP:0041174" ], "is_obsolete": "", "replace_id": "" }, "HP:0041180": { "name": [ "fractured distal phalanx of pedal digit 1", "fracture distal phalanx of pedal digit 1" ], "alt_id": [], "def": "A partial or complete breakage of the distal phalanx of pedal digit 1.", "synonym": [ [ "bone distal phalanx of pedal digit 1", "bone distal phalanx of pedal digit 1" ] ], "xref": [], "is_a": [ "HP:0010053", "HP:0041218", "HP:0041240" ], "is_obsolete": "", "replace_id": "" }, "HP:0041181": { "name": [ "fractured distal phalanx of pedal digit 3", "fracture distal phalanx of pedal digit 3" ], "alt_id": [], "def": "A partial or complete breakage of the distal phalanx of pedal digit 3.", "synonym": [ [ "bone distal phalanx of pedal digit 3", "bone distal phalanx of pedal digit 3" ] ], "xref": [], "is_a": [ "HP:0010368", "HP:0041218", "HP:0041240" ], "is_obsolete": "", "replace_id": "" }, "HP:0041182": { "name": [ "fractured middle phalanx of manual digit 2", "fracture middle phalanx of manual digit 2" ], "alt_id": [], "def": "A partial or complete breakage of the middle phalanx of manual digit 2.", "synonym": [ [ "bone middle phalanx of manual digit 2", "bone middle phalanx of manual digit 2" ] ], "xref": [], "is_a": [ "HP:0009543", "HP:0041236" ], "is_obsolete": "", "replace_id": "" }, "HP:0041183": { "name": [ "fractured middle phalanx of manual digit 3", "fracture middle phalanx of manual digit 3" ], "alt_id": [], "def": "A partial or complete breakage of the middle phalanx of manual digit 3.", "synonym": [ [ "bone middle phalanx of manual digit 3", "bone middle phalanx of manual digit 3" ] ], "xref": [], "is_a": [ "HP:0004172", "HP:0041236" ], "is_obsolete": "", "replace_id": "" }, "HP:0041184": { "name": [ "fractured middle phalanx of manual digit 4", "fracture middle phalanx of manual digit 4" ], "alt_id": [], "def": "A partial or complete breakage of the middle phalanx of manual digit 4.", "synonym": [ [ "bone middle phalanx of manual digit 4", "bone middle phalanx of manual digit 4" ] ], "xref": [], "is_a": [ "HP:0009283", "HP:0041236" ], "is_obsolete": "", "replace_id": "" }, "HP:0041185": { "name": [ "fractured middle phalanx of manual digit 5", "fracture middle phalanx of manual digit 5" ], "alt_id": [], "def": "A partial or complete breakage of the middle phalanx of manual digit 5.", "synonym": [ [ "bone middle phalanx of manual digit 5", "bone middle phalanx of manual digit 5" ] ], "xref": [], "is_a": [ "HP:0004219", "HP:0041236" ], "is_obsolete": "", "replace_id": "" }, "HP:0041186": { "name": [ "fractured middle phalanx of pedal digit 3", "fracture middle phalanx of pedal digit 3" ], "alt_id": [], "def": "A partial or complete breakage of the middle phalanx of pedal digit 3.", "synonym": [ [ "bone middle phalanx of pedal digit 3", "bone middle phalanx of pedal digit 3" ] ], "xref": [], "is_a": [ "HP:0010369", "HP:0041175" ], "is_obsolete": "", "replace_id": "" }, "HP:0041187": { "name": [ "fractured proximal phalanx of pedal digit 1", "fracture proximal phalanx of pedal digit 1" ], "alt_id": [], "def": "A partial or complete breakage of the proximal phalanx of pedal digit 1.", "synonym": [ [ "bone proximal phalanx of pedal digit 1", "bone proximal phalanx of pedal digit 1" ] ], "xref": [], "is_a": [ "HP:0010052", "HP:0041240" ], "is_obsolete": "", "replace_id": "" }, "HP:0041188": { "name": [ "fractured proximal phalanx of manual digit 1", "fracture proximal phalanx of manual digit 1" ], "alt_id": [], "def": "A partial or complete breakage of the proximal phalanx of manual digit 1.", "synonym": [ [ "bone proximal phalanx of manual digit 1", "bone proximal phalanx of manual digit 1" ] ], "xref": [], "is_a": [ "HP:0041239", "HP:0041243" ], "is_obsolete": "", "replace_id": "" }, "HP:0041189": { "name": [ "fractured epiphysis of femur", "fractured epiphysis of femur" ], "alt_id": [], "def": "A partial or complete breakage of the epiphysis of femur.", "synonym": [ [ "bone epiphysis of femur", "bone epiphysis of femur" ] ], "xref": [], "is_a": [ "HP:0006499", "HP:0041147" ], "is_obsolete": "", "replace_id": "" }, "HP:0041190": { "name": [ "fractured epiphysis of second metacarpal bone", "fractured epiphysis of second metacarpal bone" ], "alt_id": [], "def": "A partial or complete breakage of the epiphysis of second metacarpal bone.", "synonym": [ [ "bone epiphysis of second metacarpal bone", "bone epiphysis of second metacarpal bone" ] ], "xref": [], "is_a": [ "HP:0009189", "HP:0010220", "HP:0041147" ], "is_obsolete": "", "replace_id": "" }, "HP:0041191": { "name": [ "fractured epiphysis of third metacarpal bone", "fractured epiphysis of third metacarpal bone" ], "alt_id": [], "def": "A partial or complete breakage of the epiphysis of third metacarpal bone.", "synonym": [ [ "bone epiphysis of third metacarpal bone", "bone epiphysis of third metacarpal bone" ] ], "xref": [], "is_a": [ "HP:0009189", "HP:0010222", "HP:0041147" ], "is_obsolete": "", "replace_id": "" }, "HP:0041192": { "name": [ "fractured epiphysis of fourth metacarpal bone", "fractured epiphysis of fourth metacarpal bone" ], "alt_id": [], "def": "A partial or complete breakage of the epiphysis of fourth metacarpal bone.", "synonym": [ [ "bone epiphysis of fourth metacarpal bone", "bone epiphysis of fourth metacarpal bone" ] ], "xref": [], "is_a": [ "HP:0009189", "HP:0010224", "HP:0041147" ], "is_obsolete": "", "replace_id": "" }, "HP:0041193": { "name": [ "fractured epiphysis of first metatarsal bone", "fractured epiphysis of first metatarsal bone" ], "alt_id": [], "def": "A partial or complete breakage of the epiphysis of first metatarsal bone.", "synonym": [ [ "bone epiphysis of first metatarsal bone", "bone epiphysis of first metatarsal bone" ] ], "xref": [], "is_a": [ "HP:0010153", "HP:0041147" ], "is_obsolete": "", "replace_id": "" }, "HP:0041194": { "name": [ "fractured epiphysis of second metatarsal bone", "fractured epiphysis of second metatarsal bone" ], "alt_id": [], "def": "A partial or complete breakage of the epiphysis of second metatarsal bone.", "synonym": [ [ "bone epiphysis of second metatarsal bone", "bone epiphysis of second metatarsal bone" ] ], "xref": [], "is_a": [ "HP:0010630", "HP:0040034", "HP:0041147" ], "is_obsolete": "", "replace_id": "" }, "HP:0041195": { "name": [ "fractured epiphysis of third metatarsal bone", "fractured epiphysis of third metatarsal bone" ], "alt_id": [], "def": "A partial or complete breakage of the epiphysis of third metatarsal bone.", "synonym": [ [ "bone epiphysis of third metatarsal bone", "bone epiphysis of third metatarsal bone" ] ], "xref": [], "is_a": [ "HP:0010630", "HP:0010672", "HP:0041147" ], "is_obsolete": "", "replace_id": "" }, "HP:0041196": { "name": [ "fractured distal epiphysis of radius", "fracture distal epiphysis of radius" ], "alt_id": [], "def": "A partial or complete breakage of the distal epiphysis of radius.", "synonym": [ [ "bone distal epiphysis of radius", "bone distal epiphysis of radius" ] ], "xref": [], "is_a": [ "HP:0003841", "HP:0010597", "HP:0040073", "HP:0041147" ], "is_obsolete": "", "replace_id": "" }, "HP:0041197": { "name": [ "fractured proximal epiphysis of first metacarpal bone", "fracture proximal epiphysis of first metacarpal bone" ], "alt_id": [], "def": "A partial or complete breakage of the proximal epiphysis of first metacarpal bone.", "synonym": [ [ "bone proximal epiphysis of first metacarpal bone", "bone proximal epiphysis of first metacarpal bone" ] ], "xref": [], "is_a": [ "HP:0010019", "HP:0041147" ], "is_obsolete": "", "replace_id": "" }, "HP:0041198": { "name": [ "fractured proximal epiphysis of middle phalanx of manual digit 3", "fracture proximal epiphysis of middle phalanx of manual digit 3" ], "alt_id": [], "def": "A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3.", "synonym": [ [ "bone proximal epiphysis of middle phalanx of manual digit 3", "bone proximal epiphysis of middle phalanx of manual digit 3" ] ], "xref": [], "is_a": [ "HP:0009325", "HP:0041209" ], "is_obsolete": "", "replace_id": "" }, "HP:0041199": { "name": [ "fractured interphalangeal joint", "fracture interphalangeal joint" ], "alt_id": [], "def": "A partial or complete breakage of the interphalangeal joint.", "synonym": [ [ "bone interphalangeal joint", "bone interphalangeal joint" ] ], "xref": [], "is_a": [ "HP:0011297" ], "is_obsolete": "", "replace_id": "" }, "HP:0041200": { "name": [ "fractured sternal end of clavicle", "fracture sternal end of clavicle" ], "alt_id": [], "def": "A partial or complete breakage of the sternal end of clavicle.", "synonym": [ [ "bone sternal end of clavicle", "bone sternal end of clavicle" ] ], "xref": [], "is_a": [ "HP:0000889", "HP:0003084", "HP:0040070" ], "is_obsolete": "", "replace_id": "" }, "HP:0041209": { "name": [ "fractured epiphysis of middle phalanx of manus", "fractured epiphysis of middle phalanx of manus" ], "alt_id": [], "def": "A partial or complete breakage of the epiphysis of middle phalanx of manus.", "synonym": [ [ "bone epiphysis of middle phalanx of manus", "bone epiphysis of middle phalanx of manus" ] ], "xref": [], "is_a": [ "HP:0010261", "HP:0041147" ], "is_obsolete": "", "replace_id": "" }, "HP:0041210": { "name": [ "fractured lateral malleolus of fibula", "fractured lateral malleolus of fibula" ], "alt_id": [], "def": "A partial or complete breakage of the lateral malleolus of fibula.", "synonym": [ [ "bone lateral malleolus of fibula", "bone lateral malleolus of fibula" ] ], "xref": [], "is_a": [ "HP:0003084", "HP:0010595", "HP:0040069" ], "is_obsolete": "", "replace_id": "" }, "HP:0041211": { "name": [ "fractured proximal phalanx of digit 2", "fracture proximal phalanx of digit 2" ], "alt_id": [], "def": "A partial or complete breakage of the proximal phalanx of digit 2.", "synonym": [ [ "bone proximal phalanx of digit 2", "bone proximal phalanx of digit 2" ] ], "xref": [], "is_a": [ "HP:0041083" ], "is_obsolete": "", "replace_id": "" }, "HP:0041212": { "name": [ "fractured proximal phalanx of digit 3", "fracture proximal phalanx of digit 3" ], "alt_id": [], "def": "A partial or complete breakage of the proximal phalanx of digit 3.", "synonym": [ [ "bone proximal phalanx of digit 3", "bone proximal phalanx of digit 3" ] ], "xref": [], "is_a": [ "HP:0041083" ], "is_obsolete": "", "replace_id": "" }, "HP:0041213": { "name": [ "fractured proximal phalanx of digit 4", "fracture proximal phalanx of digit 4" ], "alt_id": [], "def": "A partial or complete breakage of the proximal phalanx of digit 4.", "synonym": [ [ "bone proximal phalanx of digit 4", "bone proximal phalanx of digit 4" ] ], "xref": [], "is_a": [ "HP:0041083" ], "is_obsolete": "", "replace_id": "" }, "HP:0041214": { "name": [ "fractured proximal phalanx of digit 5", "fracture proximal phalanx of digit 5" ], "alt_id": [], "def": "A partial or complete breakage of the proximal phalanx of digit 5.", "synonym": [ [ "bone proximal phalanx of digit 5", "bone proximal phalanx of digit 5" ] ], "xref": [], "is_a": [ "HP:0041083" ], "is_obsolete": "", "replace_id": "" }, "HP:0041215": { "name": [ "fractured fused metatarsal bones 2 - 4", "fracture fuse metatarsal bone 2 - 4" ], "alt_id": [], "def": "A partial or complete breakage of the fused metatarsal bones 2-4.", "synonym": [ [ "bone fused metatarsal bones 2 - 4", "bone fuse metatarsal bone 2 - 4" ] ], "xref": [], "is_a": [ "HP:0001832", "HP:0003084", "HP:0041235" ], "is_obsolete": "", "replace_id": "" }, "HP:0041216": { "name": [ "fractured distal epiphysis of distal phalanx of manual digit 1", "fracture distal epiphysis of distal phalanx of manual digit 1" ], "alt_id": [], "def": "A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1.", "synonym": [ [ "bone distal epiphysis of distal phalanx of manual digit 1", "bone distal epiphysis of distal phalanx of manual digit 1" ] ], "xref": [], "is_a": [ "HP:0009679", "HP:0041147" ], "is_obsolete": "", "replace_id": "" }, "HP:0041217": { "name": [ "fractured shoulder", "fracture shoulder" ], "alt_id": [], "def": "A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint.", "synonym": [ [ "bone shoulder joint", "bone shoulder joint" ] ], "xref": [], "is_a": [ "HP:0003043", "HP:0009810", "HP:0020110" ], "is_obsolete": "", "replace_id": "" }, "HP:0041218": { "name": [ "fractured distal phalanx", "fracture distal phalanx" ], "alt_id": [], "def": "A partial or complete breakage of the distal phalanx.", "synonym": [ [ "bone distal phalanx", "bone distal phalanx" ] ], "xref": [], "is_a": [ "HP:0041083" ], "is_obsolete": "", "replace_id": "" }, "HP:0041219": { "name": [ "fractured elbow", "fracture elbow" ], "alt_id": [], "def": "A partial or complete breakage of the elbow.", "synonym": [ [ "bone elbow", "bone elbow" ] ], "xref": [], "is_a": [ "HP:0009811", "HP:0041118" ], "is_obsolete": "", "replace_id": "" }, "HP:0041220": { "name": [ "fractured facial bone", "fracture facial bone" ], "alt_id": [], "def": "A partial or complete breakage of the facial bone.", "synonym": [ [ "bone facial bone", "bone facial bone" ] ], "xref": [], "is_a": [ "HP:0011821", "HP:0020110" ], "is_obsolete": "", "replace_id": "" }, "HP:0041221": { "name": [ "fractured head of femur", "fracture head of femur" ], "alt_id": [], "def": "A partial or complete breakage of the head of femur.", "synonym": [ [ "bone head of femur", "bone head of femur" ] ], "xref": [], "is_a": [ "HP:0003084", "HP:0003368" ], "is_obsolete": "", "replace_id": "" }, "HP:0041222": { "name": [ "fractured fibula", "fracture fibula" ], "alt_id": [], "def": "A partial or complete breakage of the fibula.", "synonym": [ [ "bone fibula", "bone fibula" ], [ "broken fibula", "break fibula" ], [ "fibula fracture", "fibula fracture" ], [ "fracture of the fibula", "fracture of the fibula" ] ], "xref": [], "is_a": [ "HP:0002991", "HP:0003084", "HP:0041235" ], "is_obsolete": "", "replace_id": "" }, "HP:0041223": { "name": [ "fractured metatarsal bone of digit 5", "fracture metatarsal bone of digit 5" ], "alt_id": [], "def": "A partial or complete breakage of the metatarsal bone of digit 5.", "synonym": [ [ "bone metatarsal bone of digit 5", "bone metatarsal bone of digit 5" ] ], "xref": [], "is_a": [ "HP:0003084", "HP:0008089", "HP:0041235" ], "is_obsolete": "", "replace_id": "" }, "HP:0041224": { "name": [ "fractured manual digit bone", "fracture manual digit bone" ], "alt_id": [], "def": "A partial or complete breakage of the manual digit bone.", "synonym": [ [ "bone manual digit bone", "bone manual digit bone" ] ], "xref": [], "is_a": [ "HP:0004277", "HP:0011297", "HP:0040070" ], "is_obsolete": "", "replace_id": "" }, "HP:0041225": { "name": [ "fractured metacarpal bone of digit 1", "fracture metacarpal bone of digit 1" ], "alt_id": [], "def": "A partial or complete breakage of the metacarpal bone of digit 1.", "synonym": [ [ "bone metacarpal bone of digit 1", "bone metacarpal bone of digit 1" ] ], "xref": [], "is_a": [ "HP:0003084", "HP:0004277", "HP:0005916", "HP:0010009" ], "is_obsolete": "", "replace_id": "" }, "HP:0041226": { "name": [ "fractured distal tarsal bone", "fracture distal tarsal bone" ], "alt_id": [], "def": "A partial or complete breakage of the distal tarsal bone.", "synonym": [ [ "bone distal tarsal bone", "bone distal tarsal bone" ] ], "xref": [], "is_a": [ "HP:0041247" ], "is_obsolete": "", "replace_id": "" }, "HP:0041227": { "name": [ "fractured distal tarsal bone 2", "fracture distal tarsal bone 2" ], "alt_id": [], "def": "A partial or complete breakage of the distal tarsal bone 2.", "synonym": [ [ "bone distal tarsal bone 2", "bone distal tarsal bone 2" ] ], "xref": [], "is_a": [ "HP:0041226" ], "is_obsolete": "", "replace_id": "" }, "HP:0041228": { "name": [ "fractured distal tarsal bone 3", "fracture distal tarsal bone 3" ], "alt_id": [], "def": "A partial or complete breakage of the distal tarsal bone 3.", "synonym": [ [ "bone distal tarsal bone 3", "bone distal tarsal bone 3" ] ], "xref": [], "is_a": [ "HP:0041226" ], "is_obsolete": "", "replace_id": "" }, "HP:0041230": { "name": [ "fractured metatarsal bone of digit 4", "fracture metatarsal bone of digit 4" ], "alt_id": [], "def": "A partial or complete breakage of the metatarsal bone of digit 4.", "synonym": [ [ "bone metatarsal bone of digit 4", "bone metatarsal bone of digit 4" ] ], "xref": [], "is_a": [ "HP:0003084", "HP:0040035", "HP:0041235" ], "is_obsolete": "", "replace_id": "" }, "HP:0041231": { "name": [ "fractured metatarsal bone of digit 1", "fracture metatarsal bone of digit 1" ], "alt_id": [], "def": "A partial or complete breakage of the metatarsal bone of digit 1.", "synonym": [ [ "bone metatarsal bone of digit 1", "bone metatarsal bone of digit 1" ] ], "xref": [], "is_a": [ "HP:0003084", "HP:0010054", "HP:0041235" ], "is_obsolete": "", "replace_id": "" }, "HP:0041232": { "name": [ "fractured skeleton of manual acropodium", "fracture skeleton of manual acropodium" ], "alt_id": [], "def": "A partial or complete breakage of the skeleton of manual acropodium.", "synonym": [ [ "bone skeleton of manual acropodium", "bone skeleton of manual acropodium" ] ], "xref": [], "is_a": [ "HP:0004277" ], "is_obsolete": "", "replace_id": "" }, "HP:0041233": { "name": [ "fractured ilium", "fractured ilium" ], "alt_id": [], "def": "A partial or complete breakage of the ilium.", "synonym": [ [ "bone ilium", "bone ilium" ] ], "xref": [], "is_a": [ "HP:0002867", "HP:0020110", "HP:0040163" ], "is_obsolete": "", "replace_id": "" }, "HP:0041234": { "name": [ "fractured bone of jaw", "fracture bone of jaw" ], "alt_id": [], "def": "A partial or complete breakage of the bone of jaw.", "synonym": [ [ "bone bone of jaw", "bone bone of jaw" ] ], "xref": [], "is_a": [ "HP:0031816", "HP:0041220" ], "is_obsolete": "", "replace_id": "" }, "HP:0041235": { "name": [ "fractured hindlimb bone", "fracture hindlimb bone" ], "alt_id": [], "def": "A partial or complete breakage of the hindlimb bone.", "synonym": [ [ "bone hindlimb bone", "bone hindlimb bone" ] ], "xref": [], "is_a": [ "HP:0020110", "HP:0040069" ], "is_obsolete": "", "replace_id": "" }, "HP:0041236": { "name": [ "fractured middle phalanx of manus", "fracture middle phalanx of manus" ], "alt_id": [], "def": "A partial or complete breakage of the middle phalanx of manus.", "synonym": [ [ "bone middle phalanx of manus", "bone middle phalanx of manus" ] ], "xref": [], "is_a": [ "HP:0009833", "HP:0041241" ], "is_obsolete": "", "replace_id": "" }, "HP:0041237": { "name": [ "fractured patella", "fracture patella" ], "alt_id": [], "def": "A partial or complete breakage of the patella.", "synonym": [ [ "bone patella", "bone patella" ] ], "xref": [], "is_a": [ "HP:0003045", "HP:0041235" ], "is_obsolete": "", "replace_id": "" }, "HP:0041239": { "name": [ "fractured manual digit 1 phalanx", "fracture manual digit 1 phalanx" ], "alt_id": [], "def": "A partial or complete breakage of the manual digit 1 phalanx.", "synonym": [ [ "bone manual digit 1 phalanx", "bone manual digit 1 phalanx" ] ], "xref": [], "is_a": [ "HP:0001172", "HP:0041241" ], "is_obsolete": "", "replace_id": "" }, "HP:0041240": { "name": [ "fractured phalanx of pes", "fracture phalanx of pe" ], "alt_id": [], "def": "A partial or complete breakage of the phalanx of pes.", "synonym": [ [ "bone phalanx of pes", "bone phalanx of pe" ] ], "xref": [], "is_a": [ "HP:0010161", "HP:0041083", "HP:0041235" ], "is_obsolete": "", "replace_id": "" }, "HP:0041241": { "name": [ "fractured phalanx of manus", "fracture phalanx of manus" ], "alt_id": [], "def": "A partial or complete breakage of the phalanx of manus.", "synonym": [ [ "bone phalanx of manus", "bone phalanx of manus" ] ], "xref": [], "is_a": [ "HP:0005918", "HP:0041083", "HP:0041224" ], "is_obsolete": "", "replace_id": "" }, "HP:0041243": { "name": [ "fractured proximal phalanx of manus", "fracture proximal phalanx of manus" ], "alt_id": [], "def": "A partial or complete breakage of the proximal phalanx of manus.", "synonym": [ [ "bone proximal phalanx of manus", "bone proximal phalanx of manus" ] ], "xref": [], "is_a": [ "HP:0009834", "HP:0041241" ], "is_obsolete": "", "replace_id": "" }, "HP:0041244": { "name": [ "fractured scapula", "fracture scapula" ], "alt_id": [], "def": "A partial or complete breakage of the scapula.", "synonym": [ [ "bone scapula", "bone scapula" ] ], "xref": [], "is_a": [ "HP:0000782", "HP:0020110" ], "is_obsolete": "", "replace_id": "" }, "HP:0041245": { "name": [ "fractured shoulder bone", "fracture shoulder bone" ], "alt_id": [], "def": "A partial or complete breakage of the shoulder bone.", "synonym": [ [ "bone shoulder bone", "bone shoulder bone" ] ], "xref": [], "is_a": [ "HP:0020110", "HP:0040070" ], "is_obsolete": "", "replace_id": "" }, "HP:0041246": { "name": [ "fractured sternum", "fracture sternum" ], "alt_id": [], "def": "A partial or complete breakage of the sternum.", "synonym": [ [ "bone sternum", "bone sternum" ] ], "xref": [], "is_a": [ "HP:0000766" ], "is_obsolete": "", "replace_id": "" }, "HP:0041247": { "name": [ "fractured tarsal bone", "fracture tarsal bone" ], "alt_id": [], "def": "A partial or complete breakage of the tarsal bone.", "synonym": [ [ "bone tarsal bone", "bone tarsal bone" ] ], "xref": [], "is_a": [ "HP:0001850", "HP:0041235" ], "is_obsolete": "", "replace_id": "" }, "HP:0041248": { "name": [ "fractured carpal bone", "fracture carpal bone" ], "alt_id": [], "def": "A partial or complete breakage of the carpal bone.", "synonym": [ [ "bone carpal bone", "bone carpal bone" ], [ "broken wrist", "broken wrist" ], [ "carpal bone fracture", "carpal bone fracture" ], [ "fractured wrist", "fracture wrist" ], [ "wrist fracture", "wrist fracture" ] ], "xref": [], "is_a": [ "HP:0001191", "HP:0004277" ], "is_obsolete": "", "replace_id": "" }, "HP:0041249": { "name": [ "fractured nose", "fracture nose" ], "alt_id": [], "def": "A partial or complete breakage of the nose.", "synonym": [ [ "bone nose", "bone nose" ] ], "xref": [], "is_a": [ "HP:0005105" ], "is_obsolete": "", "replace_id": "" }, "HP:0045001": { "name": [ "abnormal ossification of the trapezium", "abnormal ossification of the trapezium" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022409" ], "is_a": [ "HP:0004252", "HP:0006257" ], "is_obsolete": "", "replace_id": "" }, "HP:0045002": { "name": [ "absent ossification of the trapezium", "absent ossification of the trapezium" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022408" ], "is_a": [ "HP:0045001" ], "is_obsolete": "", "replace_id": "" }, "HP:0045003": { "name": [ "abnormal ossification of the scaphoid", "abnormal ossification of the scaphoid" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022407" ], "is_a": [ "HP:0004243" ], "is_obsolete": "", "replace_id": "" }, "HP:0045004": { "name": [ "abnormal ossification of the trapezoid bone", "abnormal ossification of the trapezoid bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022406" ], "is_a": [ "HP:0004256", "HP:0006257" ], "is_obsolete": "", "replace_id": "" }, "HP:0045005": { "name": [ "neural tube defect", "neural tube defect" ], "alt_id": [], "def": "A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.", "synonym": [ [ "abnormality of neural tube closure", "abnormality of neural tube closure" ] ], "xref": [ "MSH:D009436", "SNOMEDCT_US:253098009", "UMLS:C0027794" ], "is_a": [ "HP:0410043" ], "is_obsolete": "", "replace_id": "" }, "HP:0045006": { "name": [ "aplasia of lymphatic vessels", "aplasia of lymphatic vessel" ], "alt_id": [], "def": "Aplasia (absence) of the lymphatic vessels.", "synonym": [ [ "absent lymphatic vessels", "absent lymphatic vessel" ] ], "xref": [ "UMLS:C4022404" ], "is_a": [ "HP:0100766" ], "is_obsolete": "", "replace_id": "" }, "HP:0045007": { "name": [ "abnormal substantia nigra morphology", "abnormal substantia nigra morphology" ], "alt_id": [], "def": "A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry.", "synonym": [ [ "abnormality of the substantia nigra", "abnormality of the substantia nigra" ] ], "xref": [ "UMLS:C4022403" ], "is_a": [ "HP:0002134", "HP:0002418" ], "is_obsolete": "", "replace_id": "" }, "HP:0045008": { "name": [ "abnormal shape of the radius", "abnormal shape of the radius" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022402" ], "is_a": [ "HP:0045009" ], "is_obsolete": "", "replace_id": "" }, "HP:0045009": { "name": [ "abnormal morphology of the radius", "abnormal morphology of the radius" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022401" ], "is_a": [ "HP:0002818", "HP:0011314", "HP:0040073" ], "is_obsolete": "", "replace_id": "" }, "HP:0045010": { "name": [ "abnormality of peripheral nerves", "abnormality of peripheral nerve" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022400" ], "is_a": [ "HP:0000759" ], "is_obsolete": "", "replace_id": "" }, "HP:0045011": { "name": [ "decreased urine bicarbonate concentration", "decrease urine bicarbonate concentration" ], "alt_id": [], "def": "Abnormally decreased concentration of hydrogencarbonate in the urine.", "synonym": [ [ "decreased urine hco3 concentration", "decrease urine hco3 concentration" ] ], "xref": [ "UMLS:C4022399" ], "is_a": [ "HP:0011279" ], "is_obsolete": "", "replace_id": "" }, "HP:0045012": { "name": [ "decreased urinary catecholamine concentration", "decrease urinary catecholamine concentration" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022398" ], "is_a": [ "HP:0011281" ], "is_obsolete": "", "replace_id": "" }, "HP:0045013": { "name": [ "obsolete decreased urinary glucose concentration", "obsolete decrease urinary glucose concentration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0045014": { "name": [ "hypolipidemia", "hypolipidemia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:238090007", "UMLS:C0342892" ], "is_a": [ "HP:0003119" ], "is_obsolete": "", "replace_id": "" }, "HP:0045016": { "name": [ "obsolete elevated serum long - chain fatty acids", "obsolete elevate serum long - chain fatty acid" ], "alt_id": [], "def": "", "synonym": [ [ "increased serum long - chain fatty acids", "increase serum long - chain fatty acid" ] ], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0003455" }, "HP:0045017": { "name": [ "congenital malformation of the left heart", "congenital malformation of the left heart" ], "alt_id": [], "def": "Defect or defects of the morphogenesis of the left heart identifiable at birth.", "synonym": [], "xref": [ "UMLS:C4022397" ], "is_a": [ "HP:0001627" ], "is_obsolete": "", "replace_id": "" }, "HP:0045018": { "name": [ "partial duplication of eyebrows", "partial duplication of eyebrow" ], "alt_id": [], "def": "", "synonym": [ [ "partial double eyebrow", "partial double eyebrow" ], [ "partial duplication of eyebrows", "partial duplication of eyebrow" ] ], "xref": [ "UMLS:C4022396" ], "is_a": [ "HP:0010730" ], "is_obsolete": "", "replace_id": "" }, "HP:0045025": { "name": [ "narrow palpebral fissure", "narrow palpebral fissure" ], "alt_id": [], "def": "Reduction in the vertical distance between the upper and lower eyelids.", "synonym": [ [ "decreased size of palpebral fissure", "decreased size of palpebral fissure" ], [ "narrow eyelid opening", "narrow eyelid opening" ], [ "narrow palpebral fissures", "narrow palpebral fissure" ], [ "small opening between the eyelids", "small opening between the eyelid" ], [ "small palpebral fissures", "small palpebral fissure" ] ], "xref": [ "UMLS:C1837464", "UMLS:C2675021" ], "is_a": [ "HP:0200007" ], "is_obsolete": "", "replace_id": "" }, "HP:0045026": { "name": [ "abnormality of the mediastinum", "abnormality of the mediastinum" ], "alt_id": [ "HP:0100722" ], "def": "", "synonym": [], "xref": [ "UMLS:C4022395" ], "is_a": [ "HP:0045027" ], "is_obsolete": "", "replace_id": "" }, "HP:0045027": { "name": [ "abnormality of the thoracic cavity", "abnormality of the thoracic cavity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022394" ], "is_a": [ "HP:0000118" ], "is_obsolete": "", "replace_id": "" }, "HP:0045028": { "name": [ "microlissencephaly", "microlissencephaly" ], "alt_id": [], "def": "Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements.", "synonym": [ [ "lissencephaly type iii", "lissencephaly type iii" ], [ "type 3 lissencephaly", "type 3 lissencephaly" ], [ "type iii lissencephaly", "type iii lissencephaly" ] ], "xref": [ "UMLS:C4021030" ], "is_a": [ "HP:0001339" ], "is_obsolete": "", "replace_id": "" }, "HP:0045029": { "name": [ "eosinophilic fasciitis", "eosinophilic fasciitis" ], "alt_id": [], "def": "Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues.", "synonym": [], "xref": [ "MSH:C562487", "SNOMEDCT_US:24129002", "UMLS:C0264005" ], "is_a": [ "HP:0100537" ], "is_obsolete": "", "replace_id": "" }, "HP:0045034": { "name": [ "elevated urinary aminoisobutyric acid", "elevate urinary aminoisobutyric acid" ], "alt_id": [], "def": "An increased amount of 3-aminoisobutyric acid in the urine.", "synonym": [], "xref": [ "UMLS:C4022393" ], "is_a": [ "HP:0033098" ], "is_obsolete": "", "replace_id": "" }, "HP:0045035": { "name": [ "decreased urinary copper concentration", "decrease urinary copper concentration" ], "alt_id": [], "def": "", "synonym": [ [ "decreased urinary copper concentration", "decrease urinary copper concentration" ] ], "xref": [ "UMLS:C4073164" ], "is_a": [ "HP:0045036" ], "is_obsolete": "", "replace_id": "" }, "HP:0045036": { "name": [ "abnormal urinary copper concentration", "abnormal urinary copper concentration" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal urinary copper concentration", "abnormal urinary copper concentration" ] ], "xref": [ "UMLS:C4073165" ], "is_a": [ "HP:0025640" ], "is_obsolete": "", "replace_id": "" }, "HP:0045037": { "name": [ "abnormality of jaw muscles", "abnormality of jaw muscle" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of jaw muscles", "abnormality of jaw muscle" ] ], "xref": [ "UMLS:C4073166" ], "is_a": [ "HP:0000301" ], "is_obsolete": "", "replace_id": "" }, "HP:0045038": { "name": [ "gastric lymphoma", "gastric lymphoma" ], "alt_id": [], "def": "Lymphoma that originates in the stomach itself.", "synonym": [ [ "primary gastric lymphoma", "primary gastric lymphoma" ] ], "xref": [ "MSH:C535648", "SNOMEDCT_US:276811008", "UMLS:C0349532" ], "is_a": [ "HP:0002665", "HP:0006753" ], "is_obsolete": "", "replace_id": "" }, "HP:0045039": { "name": [ "osteolysis involving bones of the upper limbs", "osteolysis involve bone of the upper limb" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073167" ], "is_a": [ "HP:0002797", "HP:0040070" ], "is_obsolete": "", "replace_id": "" }, "HP:0045040": { "name": [ "abnormal lactate dehydrogenase level", "abnormal lactate dehydrogenase level" ], "alt_id": [], "def": "A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.", "synonym": [], "xref": [ "UMLS:C4073168" ], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0045041": { "name": [ "reduced lactate dehydrogenase b level", "reduce lactate dehydrogenase b level" ], "alt_id": [], "def": "A decreased or reduced level of the enzyme lactate dehydrogenase in serum.", "synonym": [], "xref": [ "MSH:C563641", "UMLS:C3279904" ], "is_a": [ "HP:0045040" ], "is_obsolete": "", "replace_id": "" }, "HP:0045042": { "name": [ "decreased serum complement c4", "decrease serum complement c4" ], "alt_id": [], "def": "A reduced level of the complement component C4 in the circulation.", "synonym": [ [ "decreased serum complement c4 level", "decrease serum complement c4 level" ] ], "xref": [ "UMLS:C4073169" ], "is_a": [ "HP:0004431" ], "is_obsolete": "", "replace_id": "" }, "HP:0045043": { "name": [ "decreased serum complement c4a", "decrease serum complement c4a" ], "alt_id": [], "def": "A reduced level of the complement component C4a in circulation.", "synonym": [ [ "c4a deficiency", "c4a deficiency" ], [ "complement component 4a deficiency", "complement component 4a deficiency" ] ], "xref": [ "UMLS:C4073170" ], "is_a": [ "HP:0045042" ], "is_obsolete": "", "replace_id": "" }, "HP:0045044": { "name": [ "decreased serum complement c4b", "decrease serum complement c4b" ], "alt_id": [], "def": "A reduced level of the complement component C4b in circulation.", "synonym": [ [ "c4b deficiency", "c4b deficiency" ], [ "complement component 4b deficiency", "complement component 4b deficiency" ] ], "xref": [ "UMLS:C3280641" ], "is_a": [ "HP:0045042" ], "is_obsolete": "", "replace_id": "" }, "HP:0045045": { "name": [ "elevated circulating acylcarnitine concentration", "elevate circulate acylcarnitine concentration" ], "alt_id": [], "def": "An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.", "synonym": [ [ "elevated plasma acylcarnitine levels", "elevate plasma acylcarnitine level" ] ], "xref": [ "UMLS:C4073171" ], "is_a": [ "HP:0012071" ], "is_obsolete": "", "replace_id": "" }, "HP:0045046": { "name": [ "reduced insulin like growth factor binding protein acid labile subunit level", "reduced insulin like growth factor bind protein acid labile subunit level" ], "alt_id": [], "def": "Blood concentration of insulin like growth factor binding protein acid labile subunit level below normal limits.", "synonym": [ [ "acid - labile subunit deficiency", "acid - labile subunit deficiency" ], [ "decreased levels of acid labile subunit", "decreased level of acid labile subunit" ] ], "xref": [ "UMLS:C3900122" ], "is_a": [ "HP:0031034" ], "is_obsolete": "", "replace_id": "" }, "HP:0045047": { "name": [ "hbs hemoglobin", "hb hemoglobin" ], "alt_id": [], "def": "Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.", "synonym": [ [ "hbs haemoglobin", "hb haemoglobin" ] ], "xref": [ "MSH:D006451", "SNOMEDCT_US:50095005", "UMLS:C0019043" ], "is_a": [ "HP:0011902" ], "is_obsolete": "", "replace_id": "" }, "HP:0045048": { "name": [ "increased hba2 hemoglobin", "increase hba2 hemoglobin" ], "alt_id": [], "def": "An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.", "synonym": [ [ "increased haemoglobin a2", "increase haemoglobin a2" ], [ "increased hba2 haemoglobin", "increase hba2 haemoglobin" ], [ "increased hemoglobin a2", "increase hemoglobin a2" ] ], "xref": [ "UMLS:C4073172" ], "is_a": [ "HP:0011902" ], "is_obsolete": "", "replace_id": "" }, "HP:0045049": { "name": [ "abnormal dlco", "abnormal dlco" ], "alt_id": [], "def": "An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs.", "synonym": [ [ "abnormal diffusing capacity", "abnormal diffusing capacity" ], [ "abnormal tlco", "abnormal tlco" ], [ "abnormal transfer factor of the lung for carbon monoxide", "abnormal transfer factor of the lung for carbon monoxide" ] ], "xref": [ "UMLS:C4073173" ], "is_a": [ "HP:0030878" ], "is_obsolete": "", "replace_id": "" }, "HP:0045050": { "name": [ "increased dlco", "increase dlco" ], "alt_id": [], "def": "Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.", "synonym": [ [ "increased diffusing capacity", "increase diffusing capacity" ] ], "xref": [ "UMLS:C4073174" ], "is_a": [ "HP:0045049" ], "is_obsolete": "", "replace_id": "" }, "HP:0045051": { "name": [ "decreased dlco", "decrease dlco" ], "alt_id": [], "def": "Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.", "synonym": [ [ "decreased diffusing capacity", "decrease diffusing capacity" ] ], "xref": [ "UMLS:C4073175" ], "is_a": [ "HP:0045049" ], "is_obsolete": "", "replace_id": "" }, "HP:0045052": { "name": [ "abnormality of the brachial nerve plexus", "abnormality of the brachial nerve plexus" ], "alt_id": [], "def": "Any abnormality of the brachial nerve plexus.", "synonym": [], "xref": [ "UMLS:C4073176" ], "is_a": [ "HP:0410010" ], "is_obsolete": "", "replace_id": "" }, "HP:0045053": { "name": [ "abnormality of the lumbosacral nerve plexus", "abnormality of the lumbosacral nerve plexus" ], "alt_id": [], "def": "Any abnormality of the lumbosacral nerve plexus.", "synonym": [], "xref": [ "UMLS:C4073177" ], "is_a": [ "HP:0410010" ], "is_obsolete": "", "replace_id": "" }, "HP:0045054": { "name": [ "brachial plexus neuropathy", "brachial plexus neuropathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D020516", "SNOMEDCT_US:3548001", "UMLS:C0700251" ], "is_a": [ "HP:0045052" ], "is_obsolete": "", "replace_id": "" }, "HP:0045055": { "name": [ "tiger tail banding", "tiger tail banding" ], "alt_id": [ "HP:0032461" ], "def": "An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.", "synonym": [ [ "tiger tail banding", "tiger tail banding" ], [ "tiger - tail banding", "tiger - tail banding" ] ], "xref": [ "UMLS:C4073178" ], "is_a": [ "HP:0003328" ], "is_obsolete": "", "replace_id": "" }, "HP:0045056": { "name": [ "abnormal levels of alpha - fetoprotein", "abnormal level of alpha - fetoprotein" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073179" ], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0045057": { "name": [ "decreased levels of alpha - fetoprotein", "decreased level of alpha - fetoprotein" ], "alt_id": [], "def": "A decrease in the concentration of alpha-fetoprotein in the blood circulation.", "synonym": [], "xref": [ "UMLS:C4073295" ], "is_a": [ "HP:0045056" ], "is_obsolete": "", "replace_id": "" }, "HP:0045058": { "name": [ "abnormality of the testis size", "abnormality of the testis size" ], "alt_id": [], "def": "An anomaly of the size of the testicle (the male gonad).", "synonym": [], "xref": [ "UMLS:C4073180" ], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0045059": { "name": [ "hyperkeratotic papule", "hyperkeratotic papule" ], "alt_id": [], "def": "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).", "synonym": [], "xref": [ "UMLS:C2047516" ], "is_a": [ "HP:0000962", "HP:0200034" ], "is_obsolete": "", "replace_id": "" }, "HP:0045060": { "name": [ "aplasia / hypoplasia involving bones of the extremities", "aplasia / hypoplasia involve bone of the extremity" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073181" ], "is_a": [ "HP:0002813", "HP:0009815" ], "is_obsolete": "", "replace_id": "" }, "HP:0045061": { "name": [ "decreased carnitine level in liver", "decrease carnitine level in liver" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4073182" ], "is_a": [ "HP:0032243", "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0045063": { "name": [ "increased pivka - ii", "increase pivka - ii" ], "alt_id": [], "def": "Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells.", "synonym": [ [ "increased prothrombin induced by vitamin k absence - ii", "increase prothrombin induce by vitamin k absence - ii" ] ], "xref": [ "UMLS:C1112467" ], "is_a": [ "HP:0100831" ], "is_obsolete": "", "replace_id": "" }, "HP:0045073": { "name": [ "serositis", "serositis" ], "alt_id": [], "def": "Inflammation in any serous cavity.", "synonym": [], "xref": [], "is_a": [ "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0045074": { "name": [ "thin eyebrow", "thin eyebrow" ], "alt_id": [], "def": "Decreased diameter of eyebrow hairs.", "synonym": [ [ "thin eyebrow", "thin eyebrow" ], [ "thin eyebrows", "thin eyebrow" ] ], "xref": [], "is_a": [ "HP:0100840" ], "is_obsolete": "", "replace_id": "" }, "HP:0045075": { "name": [ "sparse eyebrow", "sparse eyebrow" ], "alt_id": [], "def": "Decreased density/number of eyebrow hairs.", "synonym": [ [ "hypotrichosis of eyebrow", "hypotrichosis of eyebrow" ], [ "sparse eyebrow", "sparse eyebrow" ], [ "sparse eyebrows", "sparse eyebrow" ] ], "xref": [], "is_a": [ "HP:0100840" ], "is_obsolete": "", "replace_id": "" }, "HP:0045079": { "name": [ "distal femoral metaphyseal irregularity", "distal femoral metaphyseal irregularity" ], "alt_id": [], "def": "Irregularity of the normally smooth surface of the distal metaphysis of the femur.", "synonym": [ [ "irregular distal femoral metaphyses", "irregular distal femoral metaphyses" ] ], "xref": [], "is_a": [ "HP:0030291" ], "is_obsolete": "", "replace_id": "" }, "HP:0045080": { "name": [ "decreased proportion of cd3 - positive t cells", "decreased proportion of cd3 - positive t cell" ], "alt_id": [ "HP:0045072" ], "def": "Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells.", "synonym": [ [ "decreased proportion of cd3+ t cells", "decreased proportion of cd3+ t cell" ] ], "xref": [], "is_a": [ "HP:0025540" ], "is_obsolete": "", "replace_id": "" }, "HP:0045081": { "name": [ "abnormality of body mass index", "abnormality of body mass index" ], "alt_id": [], "def": "Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages.", "synonym": [ [ "abnormal bmi", "abnormal bmi" ], [ "abnormal body mass index", "abnormal body mass index" ] ], "xref": [], "is_a": [ "HP:0004323" ], "is_obsolete": "", "replace_id": "" }, "HP:0045082": { "name": [ "decreased body mass index", "decrease body mass index" ], "alt_id": [], "def": "Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.", "synonym": [ [ "decreased bmi", "decrease bmi" ] ], "xref": [], "is_a": [ "HP:0004325", "HP:0045081" ], "is_obsolete": "", "replace_id": "" }, "HP:0045083": { "name": [ "obsolete increased body mass index", "obsolete increase body mass index" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0045084": { "name": [ "limb myoclonus", "limb myoclonus" ], "alt_id": [], "def": "", "synonym": [ [ "myoclonus of limbs", "myoclonus of limb" ] ], "xref": [], "is_a": [ "HP:0001336" ], "is_obsolete": "", "replace_id": "" }, "HP:0045085": { "name": [ "atrophy of masseter muscle", "atrophy of masseter muscle" ], "alt_id": [], "def": "", "synonym": [ [ "atrophied masseter muscle", "atrophy masseter muscle" ], [ "masseter muscle atrophy", "masseter muscle atrophy" ] ], "xref": [], "is_a": [ "HP:3000005" ], "is_obsolete": "", "replace_id": "" }, "HP:0045086": { "name": [ "knee joint hypermobility", "knee joint hypermobility" ], "alt_id": [], "def": "The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).", "synonym": [ [ "knee joint over - flexibility", "knee joint over - flexibility" ] ], "xref": [], "is_a": [ "HP:0001382", "HP:0010500" ], "is_obsolete": "", "replace_id": "" }, "HP:0045087": { "name": [ "hip joint hypermobility", "hip joint hypermobility" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0001382", "HP:0001384" ], "is_obsolete": "", "replace_id": "" }, "HP:0045088": { "name": [ "clinical relevance", "clinical relevance" ], "alt_id": [], "def": "Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis.", "synonym": [], "xref": [], "is_a": [ "HP:0012823" ], "is_obsolete": "", "replace_id": "" }, "HP:0045089": { "name": [ "distinctive finding", "distinctive finding" ], "alt_id": [], "def": "In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential.", "synonym": [], "xref": [], "is_a": [ "HP:0045088" ], "is_obsolete": "", "replace_id": "" }, "HP:0045090": { "name": [ "minor finding", "minor finding" ], "alt_id": [], "def": "In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential.", "synonym": [], "xref": [], "is_a": [ "HP:0045088" ], "is_obsolete": "", "replace_id": "" }, "HP:0046502": { "name": [ "anorgasmia", "anorgasmia" ], "alt_id": [], "def": "Inability of individual to reach orgasm.", "synonym": [], "xref": [], "is_a": [ "HP:0000080" ], "is_obsolete": "", "replace_id": "" }, "HP:0046503": { "name": [ "increased libido", "increase libido" ], "alt_id": [], "def": "Elevated sexual desire.", "synonym": [], "xref": [], "is_a": [ "HP:0031845" ], "is_obsolete": "", "replace_id": "" }, "HP:0046504": { "name": [ "decreased libido", "decrease libido" ], "alt_id": [], "def": "Decreased sexual desire.", "synonym": [], "xref": [], "is_a": [ "HP:0031845" ], "is_obsolete": "", "replace_id": "" }, "HP:0046505": { "name": [ "hand pain", "hand pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort localized to the hand.", "synonym": [], "xref": [], "is_a": [ "HP:0012513" ], "is_obsolete": "", "replace_id": "" }, "HP:0046506": { "name": [ "pain in head and neck region", "pain in head and neck region" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0046507": { "name": [ "bradypnea", "bradypnea" ], "alt_id": [], "def": "Bradypnea is referring to breathing that is abnormally slow.", "synonym": [], "xref": [ "SNOMED_CT:86684002" ], "is_a": [ "HP:0002793" ], "is_obsolete": "", "replace_id": "" }, "HP:0046508": { "name": [ "abnormal cervical spine morphology", "abnormal cervical spine morphology" ], "alt_id": [], "def": "Any morphological abnormality of the cervical vertebral column.", "synonym": [], "xref": [ "SNOMED_CT:298391004" ], "is_a": [ "HP:0003319", "HP:0003468" ], "is_obsolete": "", "replace_id": "" }, "HP:0100000": { "name": [ "early onset of sexual maturation", "early onset of sexual maturation" ], "alt_id": [], "def": "An early onset of puberty, in this case early does not refer to precocious.", "synonym": [ [ "early onset of sexual maturation", "early onset of sexual maturation" ] ], "xref": [ "UMLS:C4022392" ], "is_a": [ "HP:0008373" ], "is_obsolete": "", "replace_id": "" }, "HP:0100001": { "name": [ "malignant mesothelioma", "malignant mesothelioma" ], "alt_id": [], "def": "Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer.", "synonym": [], "xref": [ "MSH:C562839", "SNOMEDCT_US:62064005", "UMLS:C0345967" ], "is_a": [ "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0100002": { "name": [ "pleural mesothelioma", "pleural mesothelioma" ], "alt_id": [], "def": "A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma.", "synonym": [], "xref": [ "NCIT:C3234", "SNOMEDCT_US:254645002", "UMLS:C0812413" ], "is_a": [ "HP:0100001", "HP:0100527" ], "is_obsolete": "", "replace_id": "" }, "HP:0100003": { "name": [ "peritoneal mesothelioma", "peritoneal mesothelioma" ], "alt_id": [], "def": "A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma.", "synonym": [], "xref": [ "NCIT:C3234", "SNOMEDCT_US:109853004", "UMLS:C0346109" ], "is_a": [ "HP:0002585", "HP:0100001", "HP:0100016" ], "is_obsolete": "", "replace_id": "" }, "HP:0100004": { "name": [ "pericardial mesothelioma", "pericardial mesothelioma" ], "alt_id": [], "def": "A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart).", "synonym": [], "xref": [ "NCIT:C3234", "UMLS:C1335381" ], "is_a": [ "HP:0001697", "HP:0100001" ], "is_obsolete": "", "replace_id": "" }, "HP:0100005": { "name": [ "testicular mesothelioma", "testicular mesothelioma" ], "alt_id": [], "def": "A Malignant mesothelioma of the testis.", "synonym": [], "xref": [ "NCIT:C3234", "UMLS:C4022391" ], "is_a": [ "HP:0010788", "HP:0100001" ], "is_obsolete": "", "replace_id": "" }, "HP:0100006": { "name": [ "neoplasm of the central nervous system", "neoplasm of the central nervous system" ], "alt_id": [], "def": "A neoplasm of the central nervous system.", "synonym": [ [ "neoplasia of the central nervous system", "neoplasia of the central nervous system" ], [ "neoplasm of the cns", "neoplasm of the cns" ], [ "tumors of the central nervous system", "tumor of the central nervous system" ], [ "tumours of the central nervous system", "tumour of the central nervous system" ] ], "xref": [ "MSH:D016543", "NCIT:C3262", "SNOMEDCT_US:126951006", "UMLS:C0085136" ], "is_a": [ "HP:0002011", "HP:0004375" ], "is_obsolete": "", "replace_id": "" }, "HP:0100007": { "name": [ "neoplasm of the peripheral nervous system", "neoplasm of the peripheral nervous system" ], "alt_id": [], "def": "A benign or malignant neoplasm (tumour) of the peripheral nervous system.", "synonym": [ [ "tumor of the peripheral nervous system", "tumor of the peripheral nervous system" ], [ "tumour of the peripheral nervous system", "tumour of the peripheral nervous system" ] ], "xref": [ "MSH:D010524", "NCIT:C3262", "SNOMEDCT_US:126980002", "UMLS:C0031118" ], "is_a": [ "HP:0000759", "HP:0004375" ], "is_obsolete": "", "replace_id": "" }, "HP:0100008": { "name": [ "schwannoma", "schwannoma" ], "alt_id": [], "def": "A benign nerve sheath tumor composed of Schwann cells.", "synonym": [ [ "neurilemmoma", "neurilemmoma" ], [ "neurinoma", "neurinoma" ], [ "neurolemmoma", "neurolemmoma" ], [ "schwann cell tumor", "schwann cell tumor" ], [ "schwann cell tumour", "schwann cell tumour" ], [ "schwannomas", "schwannomas" ] ], "xref": [ "MSH:D009442", "SNOMEDCT_US:404022001", "SNOMEDCT_US:985004", "UMLS:C0027809" ], "is_a": [ "HP:0100007" ], "is_obsolete": "", "replace_id": "" }, "HP:0100009": { "name": [ "intracranial meningioma", "intracranial meningioma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D008579", "SNOMEDCT_US:302820008", "UMLS:C0349604" ], "is_a": [ "HP:0002858" ], "is_obsolete": "", "replace_id": "" }, "HP:0100010": { "name": [ "spinal meningioma", "spinal meningioma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D008579", "NCIT:C3230", "SNOMEDCT_US:189167009", "UMLS:C0347515" ], "is_a": [ "HP:0002858" ], "is_obsolete": "", "replace_id": "" }, "HP:0100011": { "name": [ "scleral schwannoma", "scleral schwannoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "NCIT:C3269", "UMLS:C4022390" ], "is_a": [ "HP:0000591", "HP:0100008", "HP:0100012" ], "is_obsolete": "", "replace_id": "" }, "HP:0100012": { "name": [ "neoplasm of the eye", "neoplasm of the eye" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the eye.", "synonym": [ [ "eye tumor", "eye tumor" ], [ "eye tumour", "eye tumour" ], [ "neoplasia of the eye", "neoplasia of the eye" ] ], "xref": [ "MSH:D005134", "NCIT:C3262", "SNOMEDCT_US:371486001", "UMLS:C0015414" ], "is_a": [ "HP:0011793", "HP:0012372" ], "is_obsolete": "", "replace_id": "" }, "HP:0100013": { "name": [ "neoplasm of the breast", "neoplasm of the breast" ], "alt_id": [ "HP:0010623" ], "def": "A tumor (abnormal growth of tissue) of the breast.", "synonym": [ [ "breast tumor", "breast tumor" ], [ "breast tumour", "breast tumour" ], [ "neoplasia of the breast", "neoplasia of the breast" ], [ "tumours of the breast", "tumour of the breast" ] ], "xref": [ "MSH:D001943", "NCIT:C3262", "SNOMEDCT_US:126926005", "UMLS:C1458155" ], "is_a": [ "HP:0011793", "HP:0031093" ], "is_obsolete": "", "replace_id": "" }, "HP:0100014": { "name": [ "epiretinal membrane", "epiretinal membrane" ], "alt_id": [], "def": "An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy.", "synonym": [ [ "epiretinal membranes", "epiretinal membrane" ], [ "macular pucker", "macular pucker" ], [ "premacular fibrosis", "premacular fibrosis" ] ], "xref": [ "MSH:D019773", "SNOMEDCT_US:133853005", "SNOMEDCT_US:367649002", "UMLS:C0339543" ], "is_a": [ "HP:0030498" ], "is_obsolete": "", "replace_id": "" }, "HP:0100015": { "name": [ "stahl ear", "stahl ear" ], "alt_id": [], "def": "The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix.", "synonym": [ [ "additional crus", "additional crus" ], [ "third crus", "third crus" ] ], "xref": [ "SNOMEDCT_US:253252004", "UMLS:C1862689" ], "is_a": [ "HP:0011235" ], "is_obsolete": "", "replace_id": "" }, "HP:0100016": { "name": [ "abnormality of mesentery morphology", "abnormality of mesentery morphology" ], "alt_id": [], "def": "Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium).", "synonym": [ [ "abnormality of the mesentery", "abnormality of the mesentery" ] ], "xref": [ "UMLS:C4022389" ], "is_a": [ "HP:0002012" ], "is_obsolete": "", "replace_id": "" }, "HP:0100017": { "name": [ "capsular cataract", "capsular cataract" ], "alt_id": [], "def": "A cataract that affects the capsule of the lens.", "synonym": [], "xref": [ "SNOMEDCT_US:204125003", "UMLS:C0339352" ], "is_a": [ "HP:0000518" ], "is_obsolete": "", "replace_id": "" }, "HP:0100018": { "name": [ "nuclear cataract", "nuclear cataract" ], "alt_id": [ "HP:0007672", "HP:0007781", "HP:0008024" ], "def": "A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.", "synonym": [ [ "yellowish cloudy center of lens", "yellowish cloudy center of lens" ], [ "yellowish cloudy centre of lens", "yellowish cloudy centre of lens" ] ], "xref": [ "SNOMEDCT_US:53889007", "UMLS:C0392557" ], "is_a": [ "HP:0010920" ], "is_obsolete": "", "replace_id": "" }, "HP:0100019": { "name": [ "cortical cataract", "cortical cataract" ], "alt_id": [ "HP:0007876" ], "def": "A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.", "synonym": [], "xref": [ "SNOMEDCT_US:193576003", "UMLS:C0271160" ], "is_a": [ "HP:0010920" ], "is_obsolete": "", "replace_id": "" }, "HP:0100020": { "name": [ "posterior capsular cataract", "posterior capsular cataract" ], "alt_id": [], "def": "A cataract which is found in the back outer layer of the lens. This type often develops more rapidly.", "synonym": [], "xref": [ "UMLS:C4022388" ], "is_a": [ "HP:0100017" ], "is_obsolete": "", "replace_id": "" }, "HP:0100021": { "name": [ "cerebral palsy", "cerebral palsy" ], "alt_id": [], "def": "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems.", "synonym": [ [ "cerebral paralysis", "cerebral paralysis" ] ], "xref": [ "MSH:D002547", "SNOMEDCT_US:128188000", "UMLS:C0007789" ], "is_a": [ "HP:0011442", "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0100022": { "name": [ "abnormality of movement", "abnormality of movement" ], "alt_id": [ "HP:0001294" ], "def": "An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.", "synonym": [ [ "abnormality of movement", "abnormality of movement" ], [ "movement disorder", "movement disorder" ], [ "unusual movement", "unusual movement" ] ], "xref": [ "MSH:D009069", "SNOMEDCT_US:60342002", "UMLS:C0026650" ], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0100023": { "name": [ "recurrent hand flapping", "recurrent hand flap" ], "alt_id": [], "def": "A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down.", "synonym": [], "xref": [ "UMLS:C4022387" ], "is_a": [ "HP:0000733" ], "is_obsolete": "", "replace_id": "" }, "HP:0100024": { "name": [ "conspicuously happy disposition", "conspicuously happy disposition" ], "alt_id": [], "def": "An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger.", "synonym": [ [ "conspicious happy aspect", "conspicious happy aspect" ], [ "happy aspect", "happy aspect" ] ], "xref": [ "UMLS:C4021029" ], "is_a": [ "HP:0100851" ], "is_obsolete": "", "replace_id": "" }, "HP:0100025": { "name": [ "overfriendliness", "overfriendliness" ], "alt_id": [], "def": "A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction.", "synonym": [ [ "overfriendliness", "overfriendliness" ] ], "xref": [ "UMLS:C4022386" ], "is_a": [ "HP:0012433" ], "is_obsolete": "", "replace_id": "" }, "HP:0100026": { "name": [ "arteriovenous malformation", "arteriovenous malformation" ], "alt_id": [], "def": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.", "synonym": [], "xref": [ "MSH:D001165", "SNOMEDCT_US:234141001", "SNOMEDCT_US:24551003", "UMLS:C0003857" ], "is_a": [ "HP:0033353" ], "is_obsolete": "", "replace_id": "" }, "HP:0100027": { "name": [ "recurrent pancreatitis", "recurrent pancreatitis" ], "alt_id": [], "def": "A recurrent form of pancreatitis.", "synonym": [ [ "recurring pancreas inflammation", "recur pancreas inflammation" ], [ "recurring pancreatitis", "recur pancreatitis" ] ], "xref": [ "MSH:D050500", "SNOMEDCT_US:233870001", "SNOMEDCT_US:234689009", "SNOMEDCT_US:235494005", "UMLS:C0149521" ], "is_a": [ "HP:0001733" ], "is_obsolete": "", "replace_id": "" }, "HP:0100028": { "name": [ "ectopic thyroid", "ectopic thyroid" ], "alt_id": [], "def": "Mislocalised thyroid gland.", "synonym": [ [ "aberrant thyroid", "aberrant thyroid" ], [ "aberrant thyroid gland", "aberrant thyroid gland" ], [ "abnormal thryoid location", "abnormal thryoid location" ], [ "ectopic thyroid gland", "ectopic thyroid gland" ], [ "heteropic thyroid gland", "heteropic thyroid gland" ] ], "xref": [ "MSH:D050033", "SNOMEDCT_US:214660000", "UMLS:C0266283" ], "is_a": [ "HP:0008188" ], "is_obsolete": "", "replace_id": "" }, "HP:0100029": { "name": [ "lingual thyroid", "lingual thyroid" ], "alt_id": [], "def": "An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend.", "synonym": [], "xref": [ "MSH:D046151", "SNOMEDCT_US:129123002", "SNOMEDCT_US:21279007", "UMLS:C0266284" ], "is_a": [ "HP:0100028" ], "is_obsolete": "", "replace_id": "" }, "HP:0100030": { "name": [ "accessory ectopic thyroid tissue", "accessory ectopic thyroid tissue" ], "alt_id": [], "def": "Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract.", "synonym": [], "xref": [ "UMLS:C4022385" ], "is_a": [ "HP:0100028" ], "is_obsolete": "", "replace_id": "" }, "HP:0100031": { "name": [ "neoplasm of the thyroid gland", "neoplasm of the thyroid gland" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the thyroid gland.", "synonym": [ [ "neoplasia of the thyroid gland", "neoplasia of the thyroid gland" ] ], "xref": [ "MSH:D013964", "NCIT:C3262", "SNOMEDCT_US:127018007", "UMLS:C0040136" ], "is_a": [ "HP:0011772", "HP:0100568" ], "is_obsolete": "", "replace_id": "" }, "HP:0100033": { "name": [ "tics", "tic" ], "alt_id": [], "def": "Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement.", "synonym": [ [ "tic disorder", "tic disorder" ], [ "tics", "tic" ] ], "xref": [ "UMLS:C2169806" ], "is_a": [ "HP:0004305" ], "is_obsolete": "", "replace_id": "" }, "HP:0100034": { "name": [ "motor tics", "motor tic" ], "alt_id": [], "def": "Movement-based tics affecting discrete muscle groups.", "synonym": [], "xref": [ "MSH:D020323", "UMLS:C0751900" ], "is_a": [ "HP:0100033" ], "is_obsolete": "", "replace_id": "" }, "HP:0100035": { "name": [ "phonic tics", "phonic tic" ], "alt_id": [], "def": "Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound.", "synonym": [ [ "verbal tics", "verbal tic" ], [ "vocal tics", "vocal tic" ] ], "xref": [ "MSH:D020323", "UMLS:C0751901" ], "is_a": [ "HP:0100033" ], "is_obsolete": "", "replace_id": "" }, "HP:0100036": { "name": [ "pseudo - fractures", "pseudo - fracture" ], "alt_id": [], "def": "A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture.", "synonym": [ [ "looser zones", "looser zone" ] ], "xref": [ "UMLS:C4021028" ], "is_a": [ "HP:0003103" ], "is_obsolete": "", "replace_id": "" }, "HP:0100037": { "name": [ "abnormality of the scalp hair", "abnormality of the scalp hair" ], "alt_id": [], "def": "An abnormality of the hair of head.", "synonym": [ [ "abnormality of the scalp hair", "abnormality of the scalp hair" ] ], "xref": [ "UMLS:C4022384" ], "is_a": [ "HP:0001595", "HP:0001965" ], "is_obsolete": "", "replace_id": "" }, "HP:0100038": { "name": [ "slow - growing scalp hair", "slow - grow scalp hair" ], "alt_id": [ "HP:0004553" ], "def": "Scalp hair whose growth is slower than normal.", "synonym": [ [ "slow - growing scalp hair", "slow - grow scalp hair" ] ], "xref": [ "UMLS:C4022383" ], "is_a": [ "HP:0002217", "HP:0100037" ], "is_obsolete": "", "replace_id": "" }, "HP:0100039": { "name": [ "thickened cortex of bones", "thicken cortex of bone" ], "alt_id": [], "def": "An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones.", "synonym": [], "xref": [ "UMLS:C4022382" ], "is_a": [ "HP:0003103" ], "is_obsolete": "", "replace_id": "" }, "HP:0100040": { "name": [ "broad 2nd toe", "broad 2nd toe" ], "alt_id": [], "def": "A broad appearance of the second toe.", "synonym": [ [ "wide 2nd toe", "wide 2nd toe" ] ], "xref": [ "UMLS:C4022381" ], "is_a": [ "HP:0001837", "HP:0010319" ], "is_obsolete": "", "replace_id": "" }, "HP:0100041": { "name": [ "broad 3rd toe", "broad 3rd toe" ], "alt_id": [], "def": "A broad appearance of the third toe.", "synonym": [ [ "broad 3rd toe", "broad 3rd toe" ], [ "wide 3rd toe", "wide 3rd toe" ] ], "xref": [ "UMLS:C4022380" ], "is_a": [ "HP:0001837", "HP:0010320" ], "is_obsolete": "", "replace_id": "" }, "HP:0100042": { "name": [ "broad 4th toe", "broad 4th toe" ], "alt_id": [], "def": "A broad appearance of the fourth toe.", "synonym": [ [ "broad 4th toe", "broad 4th toe" ], [ "wide 4th toe", "wide 4th toe" ] ], "xref": [ "UMLS:C4022379" ], "is_a": [ "HP:0001837", "HP:0010321" ], "is_obsolete": "", "replace_id": "" }, "HP:0100043": { "name": [ "broad 5th toe", "broad 5th toe" ], "alt_id": [], "def": "A broad appearance of the fifth toe.", "synonym": [ [ "broad 5th toe", "broad 5th toe" ], [ "broad little toe", "broad little toe" ], [ "broad pinkie toe", "broad pinkie toe" ], [ "broad pinky toe", "broad pinky toe" ] ], "xref": [ "UMLS:C4022378" ], "is_a": [ "HP:0001837", "HP:0010322" ], "is_obsolete": "", "replace_id": "" }, "HP:0100044": { "name": [ "absent epiphyses of the 2nd toe", "absent epiphysis of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent end part of the 2nd toe bone", "absent end part of the 2nd toe bone" ] ], "xref": [ "UMLS:C4022377" ], "is_a": [ "HP:0010162", "HP:0010323" ], "is_obsolete": "", "replace_id": "" }, "HP:0100045": { "name": [ "bracket epiphyses of the 2nd toe", "bracket epiphysis of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "bracket shaped end part of 2nd toe bone", "bracket shape end part of 2nd toe bone" ] ], "xref": [ "UMLS:C4022376" ], "is_a": [ "HP:0010163", "HP:0010323" ], "is_obsolete": "", "replace_id": "" }, "HP:0100046": { "name": [ "cone - shaped epiphyses of the 2nd toe", "cone - shaped epiphysis of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "cone - shaped end part of the 2nd toe bone", "cone - shaped end part of the 2nd toe bone" ] ], "xref": [ "UMLS:C4022375" ], "is_a": [ "HP:0010164", "HP:0010323" ], "is_obsolete": "", "replace_id": "" }, "HP:0100047": { "name": [ "enlarged epiphyses of the 2nd toe", "enlarged epiphysis of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged end part of the 2nd toe bone", "enlarged end part of the 2nd toe bone" ] ], "xref": [ "UMLS:C4022374" ], "is_a": [ "HP:0010165", "HP:0010323" ], "is_obsolete": "", "replace_id": "" }, "HP:0100048": { "name": [ "fragmentation of the epiphyses of the 2nd toe", "fragmentation of the epiphysis of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "fragmentation of the end part of the 2nd toe bone", "fragmentation of the end part of the 2nd toe bone" ] ], "xref": [ "UMLS:C4022373" ], "is_a": [ "HP:0010166", "HP:0010323" ], "is_obsolete": "", "replace_id": "" }, "HP:0100049": { "name": [ "irregular epiphyses of the 2nd toe", "irregular epiphysis of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the 2nd toe bone", "irregular end part of the 2nd toe bone" ] ], "xref": [ "UMLS:C4022372" ], "is_a": [ "HP:0010167", "HP:0010323" ], "is_obsolete": "", "replace_id": "" }, "HP:0100050": { "name": [ "ivory epiphyses of the 2nd toe", "ivory epiphysis of the 2nd toe" ], "alt_id": [], "def": "Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.", "synonym": [ [ "increased bone density of end part of the 2nd toe", "increase bone density of end part of the 2nd toe" ] ], "xref": [ "UMLS:C4022371" ], "is_a": [ "HP:0010168", "HP:0010323" ], "is_obsolete": "", "replace_id": "" }, "HP:0100051": { "name": [ "pseudoepiphyses of the 2nd toe", "pseudoepiphyses of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022370" ], "is_a": [ "HP:0010169", "HP:0010323" ], "is_obsolete": "", "replace_id": "" }, "HP:0100052": { "name": [ "small epiphyses of the 2nd toe", "small epiphysis of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of the 2nd toe bone", "small end part of the 2nd toe bone" ] ], "xref": [ "UMLS:C4022369" ], "is_a": [ "HP:0010170", "HP:0010323" ], "is_obsolete": "", "replace_id": "" }, "HP:0100053": { "name": [ "stippling of the epiphyses of the 2nd toe", "stippling of the epiphysis of the 2nd toe" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe.", "synonym": [ [ "speckled calcifications in the end part of the 2nd toe bone", "speckled calcification in the end part of the 2nd toe bone" ] ], "xref": [ "UMLS:C4022368" ], "is_a": [ "HP:0010171", "HP:0010323" ], "is_obsolete": "", "replace_id": "" }, "HP:0100054": { "name": [ "triangular epiphyses of the 2nd toe", "triangular epiphysis of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the 2nd toe bone", "triangular end part of the 2nd toe bone" ] ], "xref": [ "UMLS:C4022367" ], "is_a": [ "HP:0010172", "HP:0010323" ], "is_obsolete": "", "replace_id": "" }, "HP:0100055": { "name": [ "absent epiphyses of the 3rd toe", "absent epiphysis of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent end part of the 3rd toe", "absent end part of the 3rd toe" ] ], "xref": [ "UMLS:C4022366" ], "is_a": [ "HP:0010162", "HP:0010329" ], "is_obsolete": "", "replace_id": "" }, "HP:0100056": { "name": [ "bracket epiphyses of the 3rd toe", "bracket epiphysis of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "bracket shaped end part of 3rd toe bone", "bracket shape end part of 3rd toe bone" ] ], "xref": [ "UMLS:C4022365" ], "is_a": [ "HP:0010163", "HP:0010329" ], "is_obsolete": "", "replace_id": "" }, "HP:0100057": { "name": [ "cone - shaped epiphyses of the 3rd toe", "cone - shaped epiphysis of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "cone - shaped end part of the 3rd toe bone", "cone - shaped end part of the 3rd toe bone" ] ], "xref": [ "UMLS:C4022364" ], "is_a": [ "HP:0010164", "HP:0010329" ], "is_obsolete": "", "replace_id": "" }, "HP:0100058": { "name": [ "enlarged epiphyses of the 3rd toe", "enlarged epiphysis of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged end part of the 3rd toe bone", "enlarged end part of the 3rd toe bone" ] ], "xref": [ "UMLS:C4022363" ], "is_a": [ "HP:0010165", "HP:0010329" ], "is_obsolete": "", "replace_id": "" }, "HP:0100059": { "name": [ "fragmentation of the epiphyses of the 3rd toe", "fragmentation of the epiphysis of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "fragmentation of the end part of the 3rd toe bone", "fragmentation of the end part of the 3rd toe bone" ] ], "xref": [ "UMLS:C4022362" ], "is_a": [ "HP:0010166", "HP:0010329" ], "is_obsolete": "", "replace_id": "" }, "HP:0100060": { "name": [ "irregular epiphyses of the 3rd toe", "irregular epiphysis of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the 3rd toe bone", "irregular end part of the 3rd toe bone" ] ], "xref": [ "UMLS:C4022361" ], "is_a": [ "HP:0010167", "HP:0010329" ], "is_obsolete": "", "replace_id": "" }, "HP:0100061": { "name": [ "ivory epiphyses of the 3rd toe", "ivory epiphysis of the 3rd toe" ], "alt_id": [], "def": "Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.", "synonym": [ [ "increased bone density of end part of the 3rd toe bone", "increase bone density of end part of the 3rd toe bone" ] ], "xref": [ "UMLS:C4022360" ], "is_a": [ "HP:0010168", "HP:0010329" ], "is_obsolete": "", "replace_id": "" }, "HP:0100062": { "name": [ "pseudoepiphyses of the 3rd toe", "pseudoepiphyses of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022359" ], "is_a": [ "HP:0010169", "HP:0010329" ], "is_obsolete": "", "replace_id": "" }, "HP:0100063": { "name": [ "small epiphyses of the 3rd toe", "small epiphysis of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of the 3rd toe bone", "small end part of the 3rd toe bone" ] ], "xref": [ "UMLS:C4022358" ], "is_a": [ "HP:0010170", "HP:0010329" ], "is_obsolete": "", "replace_id": "" }, "HP:0100064": { "name": [ "stippling of the epiphyses of the 3rd toe", "stippling of the epiphysis of the 3rd toe" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe.", "synonym": [ [ "speckled calcifications in the end part of the 3rd toe bone", "speckled calcification in the end part of the 3rd toe bone" ] ], "xref": [ "UMLS:C4022357" ], "is_a": [ "HP:0010171", "HP:0010329" ], "is_obsolete": "", "replace_id": "" }, "HP:0100065": { "name": [ "triangular epiphyses of the 3rd toe", "triangular epiphysis of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the 3rd toe bone", "triangular end part of the 3rd toe bone" ] ], "xref": [ "UMLS:C4022356" ], "is_a": [ "HP:0010172", "HP:0010329" ], "is_obsolete": "", "replace_id": "" }, "HP:0100066": { "name": [ "absent epiphyses of the 4th toe", "absent epiphysis of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent end part of the 4th toe bone", "absent end part of the 4th toe bone" ] ], "xref": [ "UMLS:C4022355" ], "is_a": [ "HP:0010162", "HP:0010335" ], "is_obsolete": "", "replace_id": "" }, "HP:0100067": { "name": [ "bracket epiphyses of the 4th toe", "bracket epiphysis of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "bracket shaped end part of 4th toe bone", "bracket shape end part of 4th toe bone" ] ], "xref": [ "UMLS:C4022354" ], "is_a": [ "HP:0010163", "HP:0010335" ], "is_obsolete": "", "replace_id": "" }, "HP:0100068": { "name": [ "cone - shaped epiphyses of the 4th toe", "cone - shaped epiphysis of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "cone - shaped end part of the 4th toe bone", "cone - shaped end part of the 4th toe bone" ] ], "xref": [ "UMLS:C4022353" ], "is_a": [ "HP:0010164", "HP:0010335" ], "is_obsolete": "", "replace_id": "" }, "HP:0100069": { "name": [ "enlarged epiphyses of the 4th toe", "enlarged epiphysis of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged end part of the 4th toe bone", "enlarged end part of the 4th toe bone" ] ], "xref": [ "UMLS:C4022352" ], "is_a": [ "HP:0010165", "HP:0010335" ], "is_obsolete": "", "replace_id": "" }, "HP:0100070": { "name": [ "fragmentation of the epiphyses of the 4th toe", "fragmentation of the epiphysis of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "fragmentation of the end part of the 4th toe bone", "fragmentation of the end part of the 4th toe bone" ] ], "xref": [ "UMLS:C4022351" ], "is_a": [ "HP:0010166", "HP:0010335" ], "is_obsolete": "", "replace_id": "" }, "HP:0100071": { "name": [ "irregular epiphyses of the 4th toe", "irregular epiphysis of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the 4th toe bone", "irregular end part of the 4th toe bone" ] ], "xref": [ "UMLS:C4022350" ], "is_a": [ "HP:0010167", "HP:0010335" ], "is_obsolete": "", "replace_id": "" }, "HP:0100072": { "name": [ "ivory epiphyses of the 4th toe", "ivory epiphysis of the 4th toe" ], "alt_id": [], "def": "Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.", "synonym": [ [ "increased bone density of end part of the 4th toe bone", "increase bone density of end part of the 4th toe bone" ] ], "xref": [ "UMLS:C4022349" ], "is_a": [ "HP:0010168", "HP:0010335" ], "is_obsolete": "", "replace_id": "" }, "HP:0100073": { "name": [ "pseudoepiphyses of the 4th toe", "pseudoepiphyses of the 4th toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022348" ], "is_a": [ "HP:0010169", "HP:0010335" ], "is_obsolete": "", "replace_id": "" }, "HP:0100074": { "name": [ "small epiphyses of the 4th toe", "small epiphysis of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of the 4th toe bone", "small end part of the 4th toe bone" ] ], "xref": [ "UMLS:C4022347" ], "is_a": [ "HP:0010170", "HP:0010335" ], "is_obsolete": "", "replace_id": "" }, "HP:0100075": { "name": [ "stippling of the epiphyses of the 4th toe", "stippling of the epiphysis of the 4th toe" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe.", "synonym": [ [ "speckled calcifications in the end part of the 4th toe bone", "speckled calcification in the end part of the 4th toe bone" ] ], "xref": [ "UMLS:C4022346" ], "is_a": [ "HP:0010171", "HP:0010335" ], "is_obsolete": "", "replace_id": "" }, "HP:0100076": { "name": [ "triangular epiphyses of the 4th toe", "triangular epiphysis of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the 4th toe bone", "triangular end part of the 4th toe bone" ] ], "xref": [ "UMLS:C4022345" ], "is_a": [ "HP:0010172", "HP:0010335" ], "is_obsolete": "", "replace_id": "" }, "HP:0100077": { "name": [ "absent epiphyses of the 5th toe", "absent epiphysis of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent end part of the little toe bone", "absent end part of the little toe bone" ], [ "absent end part of the pinkie toe bone", "absent end part of the pinkie toe bone" ], [ "absent end part of the pinky toe bone", "absent end part of the pinky toe bone" ] ], "xref": [ "UMLS:C4022344" ], "is_a": [ "HP:0010162", "HP:0010341" ], "is_obsolete": "", "replace_id": "" }, "HP:0100078": { "name": [ "bracket epiphyses of the 5th toe", "bracket epiphysis of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "bracket shaped end part of little toe bone", "bracket shape end part of little toe bone" ], [ "bracket shaped end part of pinkie toe bone", "bracket shape end part of pinkie toe bone" ], [ "bracket shaped end part of pinky toe bone", "bracket shape end part of pinky toe bone" ] ], "xref": [ "UMLS:C4022343" ], "is_a": [ "HP:0010163", "HP:0010341" ], "is_obsolete": "", "replace_id": "" }, "HP:0100079": { "name": [ "cone - shaped epiphyses of the 5th toe", "cone - shaped epiphysis of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "cone - shaped end part of the little toe bone", "cone - shaped end part of the little toe bone" ], [ "cone - shaped end part of the pinkie toe bone", "cone - shaped end part of the pinkie toe bone" ], [ "cone - shaped end part of the pinky toe bone", "cone - shaped end part of the pinky toe bone" ] ], "xref": [ "UMLS:C4022342" ], "is_a": [ "HP:0010164", "HP:0010341" ], "is_obsolete": "", "replace_id": "" }, "HP:0100080": { "name": [ "enlarged epiphyses of the 5th toe", "enlarged epiphysis of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged end part of the little toe bone", "enlarged end part of the little toe bone" ], [ "enlarged end part of the pinkie toe bone", "enlarged end part of the pinkie toe bone" ], [ "enlarged end part of the pinky toe bone", "enlarged end part of the pinky toe bone" ] ], "xref": [ "UMLS:C4022341" ], "is_a": [ "HP:0010165", "HP:0010341" ], "is_obsolete": "", "replace_id": "" }, "HP:0100081": { "name": [ "fragmentation of the epiphyses of the 5th toe", "fragmentation of the epiphysis of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "fragmentation of the end part of the little toe bone", "fragmentation of the end part of the little toe bone" ], [ "fragmentation of the end part of the pinkie toe bone", "fragmentation of the end part of the pinkie toe bone" ], [ "fragmentation of the end part of the pinky toe bone", "fragmentation of the end part of the pinky toe bone" ] ], "xref": [ "UMLS:C4022340" ], "is_a": [ "HP:0010166", "HP:0010341" ], "is_obsolete": "", "replace_id": "" }, "HP:0100082": { "name": [ "irregular epiphyses of the 5th toe", "irregular epiphysis of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the little toe bone", "irregular end part of the little toe bone" ], [ "irregular end part of the pinkie toe bone", "irregular end part of the pinkie toe bone" ], [ "irregular end part of the pinky toe bone", "irregular end part of the pinky toe bone" ] ], "xref": [ "UMLS:C4022339" ], "is_a": [ "HP:0010167", "HP:0010341" ], "is_obsolete": "", "replace_id": "" }, "HP:0100083": { "name": [ "ivory epiphyses of the 5th toe", "ivory epiphysis of the 5th toe" ], "alt_id": [], "def": "Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.", "synonym": [ [ "increased bone density of end part of the little toe bone", "increase bone density of end part of the little toe bone" ], [ "increased bone density of end part of the pinkie toe bone", "increase bone density of end part of the pinkie toe bone" ], [ "increased bone density of end part of the pinky toe bone", "increase bone density of end part of the pinky toe bone" ] ], "xref": [ "UMLS:C4022338" ], "is_a": [ "HP:0010168", "HP:0010341" ], "is_obsolete": "", "replace_id": "" }, "HP:0100084": { "name": [ "pseudoepiphyses of the 5th toe", "pseudoepiphyses of the 5th toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022337" ], "is_a": [ "HP:0010169", "HP:0010341" ], "is_obsolete": "", "replace_id": "" }, "HP:0100085": { "name": [ "small epiphyses of the 5th toe", "small epiphysis of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of the little toe bone", "small end 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Axillary hair is part of the secondary sexual hair, which normally ensues during puberty.", "synonym": [], "xref": [ "UMLS:C4022287" ], "is_a": [ "HP:0009888" ], "is_obsolete": "", "replace_id": "" }, "HP:0100135": { "name": [ "absent epiphysis of the distal phalanx of the 3rd toe", "absent epiphysis of the distal phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent end part of the outermost bone of the 3rd toe", "absent end part of the outermost bone of the 3rd toe" ] ], "xref": [ "UMLS:C4022286" ], "is_a": [ "HP:0100055", "HP:0100091" ], "is_obsolete": "", "replace_id": "" }, "HP:0100136": { "name": [ "bracket epiphysis of the distal phalanx of the 3rd toe", "bracket epiphysis of the distal phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "bracket shaped end part of the outermost bone of the 3rd toe", "bracket shape end part of the outermost bone of the 3rd toe" ] ], "xref": [ "UMLS:C4022285" ], "is_a": [ "HP:0100056", "HP:0100091" ], 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"is_obsolete": "", "replace_id": "" }, "HP:0100151": { "name": [ "irregular epiphysis of the middle phalanx of the 3rd toe", "irregular epiphysis of the middle phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the middle bone of the 3rd toe", "irregular end part of the middle bone of the 3rd toe" ] ], "xref": [ "UMLS:C4022270" ], "is_a": [ "HP:0100060", "HP:0100092" ], "is_obsolete": "", "replace_id": "" }, "HP:0100152": { "name": [ "ivory epiphysis of the middle phalanx of the 3rd toe", "ivory epiphysis of the middle phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density of end part of the middle bone of the 3rd toe", "increase bone density of end part of the middle bone of the 3rd toe" ] ], "xref": [ "UMLS:C4022269" ], "is_a": [ "HP:0100061", "HP:0100092" ], "is_obsolete": "", "replace_id": "" }, "HP:0100153": { "name": [ "pseudoepiphysis of the middle phalanx of the 3rd toe", "pseudoepiphysis of the middle 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{ "name": [ "bracket epiphysis of the proximal phalanx of the 3rd toe", "bracket epiphysis of the proximal phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "bracket shaped end part of the innermost bone of 3rd toe", "bracket shape end part of the innermost bone of 3rd toe" ] ], "xref": [ "UMLS:C4022263" ], "is_a": [ "HP:0100056", "HP:0100093" ], "is_obsolete": "", "replace_id": "" }, "HP:0100159": { "name": [ "cone - shaped epiphysis of the proximal phalanx of the 3rd toe", "cone - shaped epiphysis of the proximal phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "cone - shaped end part of the innermost bone of the 3rd toe", "cone - shaped end part of the innermost bone of the 3rd toe" ] ], "xref": [ "UMLS:C4022262" ], "is_a": [ "HP:0100057", "HP:0100093" ], "is_obsolete": "", "replace_id": "" }, "HP:0100160": { "name": [ "enlarged epiphysis of the proximal phalanx of the 3rd toe", "enlarged epiphysis of the proximal phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged end part of the innermost bone of the 3rd toe", "enlarged end part of the innermost bone of the 3rd toe" ] ], "xref": [ "UMLS:C4022261" ], "is_a": [ "HP:0100058", "HP:0100093" ], "is_obsolete": "", "replace_id": "" }, "HP:0100161": { "name": [ "fragmentation of the epiphysis of the proximal phalanx of the 3rd toe", "fragmentation of the epiphysis of the proximal phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "fragmentation of the end part of the innermost bone of the 3rd toe", "fragmentation of the end part of the innermost bone of the 3rd toe" ] ], "xref": [ "UMLS:C4022260" ], "is_a": [ "HP:0100059", "HP:0100093" ], "is_obsolete": "", "replace_id": "" }, "HP:0100162": { "name": [ "irregular epiphysis of the proximal phalanx of the 3rd toe", "irregular epiphysis of the proximal phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the innermost bone of the 3rd toe", "irregular end 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"", "replace_id": "" }, "HP:0100184": { "name": [ "fragmentation of the epiphysis of the middle phalanx of the 4th toe", "fragmentation of the epiphysis of the middle phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "fragmentation of the end part of the middle bone of the 4th toe", "fragmentation of the end part of the middle bone of the 4th toe" ] ], "xref": [ "UMLS:C4022237" ], "is_a": [ "HP:0100070", "HP:0100095" ], "is_obsolete": "", "replace_id": "" }, "HP:0100185": { "name": [ "irregular epiphysis of the middle phalanx of the 4th toe", "irregular epiphysis of the middle phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the middle bone of the 4th toe", "irregular end part of the middle bone of the 4th toe" ] ], "xref": [ "UMLS:C4022236" ], "is_a": [ "HP:0100071", "HP:0100095" ], "is_obsolete": "", "replace_id": "" }, "HP:0100186": { "name": [ "ivory epiphysis of the middle phalanx of the 4th toe", "ivory epiphysis of the 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"" }, "HP:0100189": { "name": [ "stippling of the epiphysis of the middle phalanx of the 4th toe", "stippling of the epiphysis of the middle phalanx of the 4th toe" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe.", "synonym": [ [ "speckled calcifications in the end part of the middle bone of the 4th toe", "speckled calcification in the end part of the middle bone of the 4th toe" ] ], "xref": [ "UMLS:C4022232" ], "is_a": [ "HP:0100075", "HP:0100095" ], "is_obsolete": "", "replace_id": "" }, "HP:0100190": { "name": [ "triangular epiphysis of the middle phalanx of the 4th toe", "triangular epiphysis of the middle phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the middle bone of the 4th toe", "triangular end part of the middle bone of the 4th toe" ] ], "xref": [ "UMLS:C4022231" ], "is_a": [ "HP:0100076", "HP:0100095" ], "is_obsolete": "", 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"fragmentation of the end part of the innermost bone of the 4th toe" ] ], "xref": [ "UMLS:C4022226" ], "is_a": [ "HP:0100070", "HP:0100096" ], "is_obsolete": "", "replace_id": "" }, "HP:0100196": { "name": [ "irregular epiphysis of the proximal phalanx of the 4th toe", "irregular epiphysis of the proximal phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the innermost bone of the 4th toe", "irregular end part of the innermost bone of the 4th toe" ] ], "xref": [ "UMLS:C4022225" ], "is_a": [ "HP:0100071", "HP:0100096" ], "is_obsolete": "", "replace_id": "" }, "HP:0100197": { "name": [ "ivory epiphysis of the proximal phalanx of the 4th toe", "ivory epiphysis of the proximal phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density of end part of the innermost bone of the 4th toe", "increase bone density of end part of the innermost bone of the 4th toe" ] ], "xref": [ "UMLS:C4022224" ], "is_a": [ "HP:0100072", 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calcifications in the epiphyses of the proximal phalanx of the 4th toe.", "synonym": [ [ "speckled calcifications in the end part of the innermost bone of the 4th toe", "speckled calcification in the end part of the innermost bone of the 4th toe" ] ], "xref": [ "UMLS:C4022221" ], "is_a": [ "HP:0100075", "HP:0100096" ], "is_obsolete": "", "replace_id": "" }, "HP:0100201": { "name": [ "triangular epiphysis of the proximal phalanx of the 4th toe", "triangular epiphysis of the proximal phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the innermost bone of the 4th toe", "triangular end part of the innermost bone of the 4th toe" ] ], "xref": [ "UMLS:C4022220" ], "is_a": [ "HP:0100076", "HP:0100096" ], "is_obsolete": "", "replace_id": "" }, "HP:0100202": { "name": [ "absent epiphysis of the distal phalanx of the 5th toe", "absent epiphysis of the distal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent end part of the 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the outermost bone of the pinkie toe" ], [ "fragmentation of the end part of the outermost bone of the pinky toe", "fragmentation of the end part of the outermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022215" ], "is_a": [ "HP:0100081", "HP:0100097" ], "is_obsolete": "", "replace_id": "" }, "HP:0100207": { "name": [ "irregular epiphysis of the distal phalanx of the 5th toe", "irregular epiphysis of the distal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the outermost bone of the little toe", "irregular end part of the outermost bone of the little toe" ], [ "irregular end part of the outermost bone of the pinkie toe", "irregular end part of the outermost bone of the pinkie toe" ], [ "irregular end part of the outermost bone of the pinky toe", "irregular end part of the outermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022214" ], "is_a": [ "HP:0100082", "HP:0100097" ], "is_obsolete": "", "replace_id": "" }, "HP:0100208": { "name": [ "ivory epiphysis of the distal phalanx of the 5th toe", "ivory epiphysis of the distal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density of end part of the outermost bone of the little toe", "increase bone density of end part of the outermost bone of the little toe" ], [ "increased bone density of end part of the outermost bone of the pinkie toe", "increase bone density of end part of the outermost bone of the pinkie toe" ], [ "increased bone density of end part of the outermost bone of the pinky toe", "increase bone density of end part of the outermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022213" ], "is_a": [ "HP:0100083", "HP:0100097" ], "is_obsolete": "", "replace_id": "" }, "HP:0100209": { "name": [ "pseudoepiphysis of the distal phalanx of the 5th toe", "pseudoepiphysis of the distal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022212" ], "is_a": [ "HP:0100084", "HP:0100097" ], "is_obsolete": "", "replace_id": "" }, "HP:0100210": { "name": [ "small epiphysis of the distal phalanx of the 5th toe", "small epiphysis of the distal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of the outermost bone of the little toe", "small end part of the outermost bone of the little toe" ], [ "small end part of the outermost bone of the pinkie toe", "small end part of the outermost bone of the pinkie toe" ], [ "small end part of the outermost bone of the pinky toe", "small end part of the outermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022211" ], "is_a": [ "HP:0100085", "HP:0100097" ], "is_obsolete": "", "replace_id": "" }, "HP:0100211": { "name": [ "stippling of the epiphysis of the distal phalanx of the 5th toe", "stippling of the epiphysis of the distal phalanx of the 5th toe" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe.", "synonym": [ [ "speckled calcifications in the end part of the outermost bone of the little toe", "speckled calcification in the end part of the outermost bone of the little toe" ], [ "speckled calcifications in the end part of the outermost bone of the pinkie toe", "speckled calcification in the end part of the outermost bone of the pinkie toe" ], [ "speckled calcifications in the end part of the outermost bone of the pinky toe", "speckled calcification in the end part of the outermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022210" ], "is_a": [ "HP:0100086", "HP:0100097" ], "is_obsolete": "", "replace_id": "" }, "HP:0100212": { "name": [ "triangular epiphysis of the distal phalanx of the 5th toe", "triangular epiphysis of the distal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the outermost bone of the little toe", "triangular end part of the outermost bone of the little toe" ], [ "triangular end part of the outermost bone of the 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"HP:0100085", "HP:0100098" ], "is_obsolete": "", "replace_id": "" }, "HP:0100222": { "name": [ "stippling of the epiphysis of the middle phalanx of the 5th toe", "stippling of the epiphysis of the middle phalanx of the 5th toe" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe.", "synonym": [ [ "speckled calcifications in end part of the innermost bone of the pinkie toe", "speckled calcification in end part of the innermost bone of the pinkie toe" ], [ "speckled calcifications in middle part of the innermost bone of the little toe", "speckled calcification in middle part of the innermost bone of the little toe" ], [ "speckled calcifications in middle part of the innermost bone of the pinky toe", "speckled calcification in middle part of the innermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022199" ], "is_a": [ "HP:0100086", "HP:0100098" ], "is_obsolete": "", "replace_id": "" }, "HP:0100223": { "name": [ "triangular epiphysis of the middle phalanx of the 5th toe", "triangular epiphysis of the middle phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the middle bone of the little toe", "triangular end part of the middle bone of the little toe" ], [ "triangular end part of the middle bone of the pinkie toe", "triangular end part of the middle bone of the pinkie toe" ], [ "triangular end part of the middle bone of the pinky toe", "triangular end part of the middle bone of the pinky toe" ] ], "xref": [ "UMLS:C4022198" ], "is_a": [ "HP:0100087", "HP:0100098" ], "is_obsolete": "", "replace_id": "" }, "HP:0100224": { "name": [ "absent epiphysis of the proximal phalanx of the 5th toe", "absent epiphysis of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent end part of the innermost bone of the little toe", "absent end part of the innermost bone of the little toe" ], [ "absent end part of the innermost bone of the pinkie toe", "absent end part of the innermost bone of the pinkie toe" ], [ "absent end part of the innermost bone of the pinky toe", "absent end part of the innermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022197" ], "is_a": [ "HP:0100077", "HP:0100099" ], "is_obsolete": "", "replace_id": "" }, "HP:0100225": { "name": [ "bracket epiphysis of the proximal phalanx of the 5th toe", "bracket epiphysis of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "bracket shaped end part of the innermost bone of the little toe", "bracket shape end part of the innermost bone of the little toe" ], [ "bracket shaped end part of the innermost bone of the pinkie toe", "bracket shape end part of the innermost bone of the pinkie toe" ], [ "bracket shaped end part of the innermost bone of the pinky toe", "bracket shape end part of the innermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022196" ], "is_a": [ "HP:0100078", "HP:0100099" ], "is_obsolete": "", "replace_id": "" }, "HP:0100226": { "name": [ "cone - shaped epiphysis of the proximal phalanx of the 5th toe", "cone - shaped epiphysis of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "cone - shaped end part of the innermost bone of the little toe", "cone - shaped end part of the innermost bone of the little toe" ], [ "cone - shaped end part of the innermost bone of the pinkie toe", "cone - shaped end part of the innermost bone of the pinkie toe" ], [ "cone - shaped end part of the innermost bone of the pinky toe", "cone - shaped end part of the innermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022195" ], "is_a": [ "HP:0100079", "HP:0100099" ], "is_obsolete": "", "replace_id": "" }, "HP:0100227": { "name": [ "enlarged epiphysis of the proximal phalanx of the 5th toe", "enlarged epiphysis of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged end part of the innermost bone of the little toe", "enlarged end part of the innermost bone of the little toe" ], [ "enlarged end part of the innermost bone of the pinkie toe", "enlarged end part of the innermost bone of the pinkie toe" ], [ "enlarged end part of the innermost bone of the pinky toe", "enlarged end part of the innermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022194" ], "is_a": [ "HP:0100080", "HP:0100099" ], "is_obsolete": "", "replace_id": "" }, "HP:0100228": { "name": [ "fragmentation of the epiphysis of the proximal phalanx of the 5th toe", "fragmentation of the epiphysis of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "fragmentation of the end part of the innermost bone of the little toe", "fragmentation of the end part of the innermost bone of the little toe" ], [ "fragmentation of the end part of the innermost bone of the pinkie toe", "fragmentation of the end part of the innermost bone of the pinkie toe" ], [ "fragmentation of the end part of the innermost bone of the pinky toe", "fragmentation of the end part of the innermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022193" ], "is_a": [ "HP:0100081", "HP:0100099" ], "is_obsolete": "", "replace_id": "" }, "HP:0100229": { "name": [ "irregular epiphysis of the proximal phalanx of the 5th toe", "irregular epiphysis of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "irregular end part of the innermost bone of the little toe", "irregular end part of the innermost bone of the little toe" ], [ "irregular end part of the innermost bone of the pinkie toe", "irregular end part of the innermost bone of the pinkie toe" ], [ "irregular end part of the innermost bone of the pinky toe", "irregular end part of the innermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022192" ], "is_a": [ "HP:0100082", "HP:0100099" ], "is_obsolete": "", "replace_id": "" }, "HP:0100230": { "name": [ "ivory epiphysis of the proximal phalanx of the 5th toe", "ivory epiphysis of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density of end part of the innermost bone of the little toe", "increase bone density of end part of the innermost bone of the little toe" ], [ "increased bone density of end part of the innermost bone of the pinkie toe", "increase bone density of end part of the innermost bone of the pinkie toe" ], [ "increased bone density of end part of the innermost bone of the pinky toe", "increase bone density of end part of the innermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022191" ], "is_a": [ "HP:0100083", "HP:0100099" ], "is_obsolete": "", "replace_id": "" }, "HP:0100231": { "name": [ "pseudoepiphysis of the proximal phalanx of the 5th toe", "pseudoepiphysis of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022190" ], "is_a": [ "HP:0100084", "HP:0100099" ], "is_obsolete": "", "replace_id": "" }, "HP:0100232": { "name": [ "small epiphysis of the proximal phalanx of the 5th toe", "small epiphysis of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "small end part of the innermost bone of the little toe", "small end part of the innermost bone of the little toe" ], [ "small end part of the innermost bone of the pinkie toe", "small end part of the innermost bone of the pinkie toe" ], [ "small end part of the innermost bone of the pinky toe", "small end part of the innermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022189" ], "is_a": [ "HP:0100085", "HP:0100099" ], "is_obsolete": "", "replace_id": "" }, "HP:0100233": { "name": [ "stippling of the epiphysis of the proximal phalanx of the 5th toe", "stippling of the epiphysis of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe.", "synonym": [ [ "speckled calcifications in the end part of the innermost bone of the little toe", "speckled calcification in the end part of the innermost bone of the little toe" ], [ "speckled calcifications in the end part of the innermost bone of the pinkie toe", "speckled calcification in the end part of the innermost bone of the pinkie toe" ], [ "speckled calcifications in the end part of the innermost bone of the pinky toe", "speckled calcification in the end part of the innermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022188" ], "is_a": [ "HP:0100086", "HP:0100099" ], "is_obsolete": "", "replace_id": "" }, "HP:0100234": { "name": [ "triangular epiphysis of the proximal phalanx of the 5th toe", "triangular epiphysis of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular end part of the innermost bone of the little toe", "triangular end part of the innermost bone of the little toe" ], [ "triangular end part of the innermost bone of the pinkie toe", "triangular end part of the innermost bone of the pinkie toe" ], [ "triangular end part of the innermost bone of the pinky toe", "triangular end part of the innermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022187" ], "is_a": [ "HP:0100087", "HP:0100099" ], "is_obsolete": "", "replace_id": "" }, "HP:0100235": { "name": [ "synostosis involving bones of the toes", "synostosis involve bone of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "fusion involving bones of the toes", "fusion involve bone of the toe" ] ], "xref": [ "UMLS:C4022186" ], "is_a": [ "HP:0009140", "HP:0100262" ], "is_obsolete": "", "replace_id": "" }, "HP:0100237": { "name": [ "proximal foot symphalangism", "proximal foot symphalangism" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022185" ], "is_a": [ "HP:0010179", "HP:0100235", "HP:0100264" ], "is_obsolete": "", "replace_id": "" }, "HP:0100238": { "name": [ "synostosis involving bones of the upper limbs", "synostosis involve bone of the upper limb" ], "alt_id": [], "def": "An abnormal union between bones or parts of bones of the upper limbs.", "synonym": [ [ "fusion involving bones of the upper limbs", "fusion involve bone of the upper limb" ] ], "xref": [ "UMLS:C4022184" ], "is_a": [ "HP:0009810", "HP:0100240" ], "is_obsolete": "", "replace_id": "" }, "HP:0100240": { "name": [ "synostosis of joints", "synostosis of joint" ], "alt_id": [], "def": "The abnormal fusion of neighboring bones across a joint.", "synonym": [ [ "bony ankylosis", "bony ankylosis" ], [ "fusion of joints", "fusion of joint" ] ], "xref": [ "UMLS:C4022183" ], "is_a": [ "HP:0001367", "HP:0011729" ], "is_obsolete": "", "replace_id": "" }, "HP:0100241": { "name": [ "ectopic respiratory mucosa", "ectopic respiratory mucosa" ], "alt_id": [], "def": "Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations.", "synonym": [], "xref": [ "UMLS:C4022182" ], "is_a": [ "HP:0002973", "HP:0012253" ], "is_obsolete": "", "replace_id": "" }, "HP:0100242": { "name": [ "sarcoma", "sarcoma" ], "alt_id": [], "def": "A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.", "synonym": [ [ "cancer of connective tissue", "cancer of connective tissue" ], [ "malignant connective tissue tumor", "malignant connective tissue tumor" ], [ "malignant connective tissue tumour", "malignant connective tissue tumour" ] ], "xref": [ "MSH:D012509", "NCIT:C9118", "SNOMEDCT_US:2424003", "SNOMEDCT_US:269469005", "SNOMEDCT_US:424413001", "SNOMEDCT_US:424952003", "UMLS:C1261473" ], "is_a": [ "HP:0011792" ], "is_obsolete": "", "replace_id": "" }, "HP:0100243": { "name": [ "leiomyosarcoma", "leiomyosarcoma" ], "alt_id": [], "def": "A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma.", "synonym": [], "xref": [ "MSH:D007890", "NCIT:C3158", "SNOMEDCT_US:443719001", "SNOMEDCT_US:51549004", "UMLS:C0023269" ], "is_a": [ "HP:0030448" ], "is_obsolete": "", "replace_id": "" }, "HP:0100244": { "name": [ "fibrosarcoma", "fibrosarcoma" ], "alt_id": [], "def": "A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells.", "synonym": [], "xref": [ "MSH:D005354", "NCIT:C6605", "SNOMEDCT_US:443250000", "SNOMEDCT_US:53654007", "UMLS:C0016057" ], "is_a": [ "HP:0030448" ], "is_obsolete": "", "replace_id": "" }, "HP:0100245": { "name": [ "desmoid tumors", "desmoid tumor" ], "alt_id": [], "def": "Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.", "synonym": [ [ "desmoid tumours", "desmoid tumour" ] ], "xref": [ "MSH:D018222", "NCIT:C3042", "SNOMEDCT_US:399994005", "SNOMEDCT_US:400055004", "SNOMEDCT_US:47284001", "UMLS:C0079218" ], "is_a": [ "HP:0007378", "HP:0010614", "HP:0100244" ], "is_obsolete": "", "replace_id": "" }, "HP:0100246": { "name": [ "osteoma", "osteoma" ], "alt_id": [], "def": "Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant.", "synonym": [], "xref": [ "MSH:D010016", "NCIT:C3296", "SNOMEDCT_US:302858007", "SNOMEDCT_US:83612000", "UMLS:C0029440" ], "is_a": [ "HP:0010622" ], "is_obsolete": "", "replace_id": "" }, "HP:0100247": { "name": [ "recurrent singultus", "recurrent singultus" ], "alt_id": [], "def": "A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc.", "synonym": [ [ "hiccup", "hiccup" ], [ "hiccups", "hiccup" ], [ "recurrent hiccough", "recurrent hiccough" ], [ "recurrent hiccup", "recurrent hiccup" ], [ "recurrent synchronous diaphragmatic flutter", "recurrent synchronous diaphragmatic flutter" ] ], "xref": [ "MSH:D006606", "SNOMEDCT_US:65958008", "UMLS:C0019521", "UMLS:C0744897" ], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0100248": { "name": [ "hemiballismus", "hemiballismus" ], "alt_id": [], "def": "Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.", "synonym": [ [ "ballismus", "ballismus" ] ], "xref": [ "MSH:D020820", "SNOMEDCT_US:66637005", "UMLS:C0221169" ], "is_a": [ "HP:0002134", "HP:0004305" ], "is_obsolete": "", "replace_id": "" }, "HP:0100249": { "name": [ "calcification of muscles", "calcification of muscle" ], "alt_id": [], "def": "Deposition of calcium salts in muscle tissue.", "synonym": [ [ "skeletal muscle calcinosis", "skeletal muscle calcinosis" ] ], "xref": [ "SNOMEDCT_US:446993003", "UMLS:C2960760" ], "is_a": [ "HP:0010766", "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0100250": { "name": [ "meningeal calcification", "meningeal calcification" ], "alt_id": [], "def": "Calcium deposition affecting the Meninges.", "synonym": [], "xref": [ "UMLS:C4022181" ], "is_a": [ "HP:0002514", "HP:0010651" ], "is_obsolete": "", "replace_id": "" }, "HP:0100251": { "name": [ "multiple central nervous system lipomas", "multiple central nervous system lipoma" ], "alt_id": [], "def": "The presence of mulitple lipomas located in the central nervous system.", "synonym": [ [ "lipomas of the central nervous system", "lipoma of the central nervous system" ] ], "xref": [ "NCIT:C3192", "UMLS:C4022180" ], "is_a": [ "HP:0001012", "HP:0100835" ], "is_obsolete": "", "replace_id": "" }, "HP:0100252": { "name": [ "diaphyseal dysplasia", "diaphyseal dysplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D003966", "SNOMEDCT_US:318761000119105", "SNOMEDCT_US:34643004", "UMLS:C0011989" ], "is_a": [ "HP:0000940", "HP:0002652" ], "is_obsolete": "", "replace_id": "" }, "HP:0100253": { "name": [ "abnormality of the medullary cavity of the long bones", "abnormality of the medullary cavity of the long bone" ], "alt_id": [], "def": "An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored.", "synonym": [ [ "abnormality of the marrow cavity of the long bones", "abnormality of the marrow cavity of the long bone" ] ], "xref": [ "UMLS:C4021027" ], "is_a": [ "HP:0000940" ], "is_obsolete": "", "replace_id": "" }, "HP:0100254": { "name": [ "stenosis of the medullary cavity of the long bones", "stenosis of the medullary cavity of the long bone" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022179" ], "is_a": [ "HP:0100253" ], "is_obsolete": "", "replace_id": "" }, "HP:0100255": { "name": [ "metaphyseal dysplasia", "metaphyseal dysplasia" ], "alt_id": [ "HP:0000948", "HP:0005002", "HP:0005636", "HP:0005704", "HP:0006427" ], "def": "The presence of dysplastic regions in metaphyseal regions.", "synonym": [], "xref": [ "MSH:C536252", "SNOMEDCT_US:27837003", "UMLS:C0265294" ], "is_a": [ "HP:0000944", "HP:0002652" ], "is_obsolete": "", "replace_id": "" }, "HP:0100256": { "name": [ "senile plaques", "senile plaque" ], "alt_id": [], "def": "Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.", "synonym": [ [ "braindruse", "braindruse" ], [ "neuritic plaques", "neuritic plaque" ], [ "senile druse", "senile druse" ] ], "xref": [ "MSH:D058225", "SNOMEDCT_US:38551001", "UMLS:C0333463" ], "is_a": [ "HP:0007367" ], "is_obsolete": "", "replace_id": "" }, "HP:0100257": { "name": [ "ectrodactyly", "ectrodactyly" ], "alt_id": [], "def": "A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.", "synonym": [ [ "cleft hand", "cleft hand" ], [ "lobster claw hand", "lobster claw hand" ] ], "xref": [ "MSH:C574275", "SNOMEDCT_US:13624003", "SNOMEDCT_US:81208006", "UMLS:C0265554" ], "is_a": [ "HP:0002813" ], "is_obsolete": "", "replace_id": "" }, "HP:0100258": { "name": [ "preaxial polydactyly", "preaxial polydactyly" ], "alt_id": [], "def": "A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.", "synonym": [ [ "polydactyly , preaxial", "polydactyly , preaxial" ] ], "xref": [ "SNOMEDCT_US:205135003", "UMLS:C0345354" ], "is_a": [ "HP:0010442" ], "is_obsolete": "", "replace_id": "" }, "HP:0100259": { "name": [ "postaxial polydactyly", "postaxial polydactyly" ], "alt_id": [ "HP:0005808" ], "def": "A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.", "synonym": [ [ "polydactyly , postaxial", "polydactyly , postaxial" ], [ "postaxial hexadactyly", "postaxial hexadactyly" ] ], "xref": [ "MSH:C562429", "UMLS:C0220697" ], "is_a": [ "HP:0010442" ], "is_obsolete": "", "replace_id": "" }, "HP:0100260": { "name": [ "mesoaxial polydactyly", "mesoaxial polydactyly" ], "alt_id": [], "def": "The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly.", "synonym": [ [ "central polydactyly", "central polydactyly" ], [ "insertional polydactyly", "insertional polydactyly" ], [ "intercalary polydactyly", "intercalary polydactyly" ] ], "xref": [ "UMLS:C1848595", "UMLS:C4020689" ], "is_a": [ "HP:0010442" ], "is_obsolete": "", "replace_id": "" }, "HP:0100261": { "name": [ "abnormal tendon morphology", "abnormal tendon morphology" ], "alt_id": [], "def": "An abnormality of the structure or form of the tendons, also often called sinews.", "synonym": [ [ "abnormal shape of tendon", "abnormal shape of tendon" ], [ "abnormality of the sinew", "abnormality of the sinew" ] ], "xref": [ "UMLS:C4021026" ], "is_a": [ "HP:0011842" ], "is_obsolete": "", "replace_id": "" }, "HP:0100262": { "name": [ "synostosis involving digits", "synostosis involve digit" ], "alt_id": [], "def": "", "synonym": [ [ "fusion involving digits", "fusion involve digit" ] ], "xref": [ "UMLS:C4022178" ], "is_a": [ "HP:0100240" ], "is_obsolete": "", "replace_id": "" }, "HP:0100263": { "name": [ "distal symphalangism", "distal symphalangism" ], "alt_id": [], "def": "", "synonym": [ [ "symphalangism , distal", "symphalangism , distal" ] ], "xref": [ "MSH:C566099", "UMLS:C1861401" ], "is_a": [ "HP:0100262" ], "is_obsolete": "", "replace_id": "" }, "HP:0100264": { "name": [ "proximal symphalangism", "proximal symphalangism" ], "alt_id": [], "def": "", "synonym": [ [ "cushing 's symphalangism", "cushing 's symphalangism" ] ], "xref": [ "MSH:C536223", "UMLS:C1861385" ], "is_a": [ "HP:0100262" ], "is_obsolete": "", "replace_id": "" }, "HP:0100265": { "name": [ "synostosis of metacarpals / metatarsals", "synostosis of metacarpal / metatarsal" ], "alt_id": [], "def": "", "synonym": [ [ "fusion of long bones of hand / long bones of foot", "fusion of long bone of hand / long bone of foot" ] ], "xref": [ "UMLS:C4022177" ], "is_a": [ "HP:0100240" ], "is_obsolete": "", "replace_id": "" }, "HP:0100266": { "name": [ "synostosis of carpals / tarsals", "synostosis of carpal / tarsal" ], "alt_id": [ "HP:0005666", "HP:0005675", "HP:0005823" ], "def": "The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus.", "synonym": [ [ "carpal and tarsal fusions", "carpal and tarsal fusion" ], [ "coalescence of carpal and tarsal bones", "coalescence of carpal and tarsal bone" ], [ "fusion of carpal and tarsal bones", "fusion of carpal and tarsal bone" ], [ "wrist bone / ankle bone fusions", "wrist bone / ankle bone fusion" ] ], "xref": [ "UMLS:C4021025" ], "is_a": [ "HP:0100240" ], "is_obsolete": "", "replace_id": "" }, "HP:0100267": { "name": [ "lip pit", "lip pit" ], "alt_id": [], "def": "A depression located on a lip.", "synonym": [], "xref": [ "UMLS:C0341059" ], "is_a": [ "HP:0000159", "HP:0100276" ], "is_obsolete": "", "replace_id": "" }, "HP:0100268": { "name": [ "upper lip pit", "upper lip pit" ], "alt_id": [], "def": "Depression located on the vermilion of the upper lip, usually paramedian.", "synonym": [], "xref": [ "UMLS:C4022176" ], "is_a": [ "HP:0000177", "HP:0100269" ], "is_obsolete": "", "replace_id": "" }, "HP:0100269": { "name": [ "paramedian lip pit", "paramedian lip pit" ], "alt_id": [], "def": "Depression located paramedially on the vermilion of a lip.", "synonym": [ [ "paramedian labial pits", "paramedian labial pit" ] ], "xref": [ "UMLS:C4022175" ], "is_a": [ "HP:0100267" ], "is_obsolete": "", "replace_id": "" }, "HP:0100270": { "name": [ "abnormality of dorsoventral patterning of the limbs", "abnormality of dorsoventral patterning of the limb" ], "alt_id": [], "def": "An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs.", "synonym": [], "xref": [ "UMLS:C4022174" ], "is_a": [ "HP:0001155", "HP:0001760" ], "is_obsolete": "", "replace_id": "" }, "HP:0100271": { "name": [ "hyponasal speech", "hyponasal speech" ], "alt_id": [], "def": "Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion.", "synonym": [], "xref": [ "UMLS:C4022173" ], "is_a": [ "HP:0001608" ], "is_obsolete": "", "replace_id": "" }, "HP:0100272": { "name": [ "branchial sinus", "branchial sinus" ], "alt_id": [], "def": "A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal.", "synonym": [ [ "branchial cleft sinus", "branchial cleft sinus" ] ], "xref": [ "SNOMEDCT_US:253259008", "UMLS:C0266624" ], "is_a": [ "HP:0009794" ], "is_obsolete": "", "replace_id": "" }, "HP:0100273": { "name": [ "neoplasm of the colon", "neoplasm of the colon" ], "alt_id": [], "def": "", "synonym": [ [ "colon tumor", "colon tumor" ], [ "colon tumour", "colon tumour" ] ], "xref": [ "MSH:D003110", "NCIT:C3262", "SNOMEDCT_US:126838000", "UMLS:C0009375" ], "is_a": [ "HP:0100834" ], "is_obsolete": "", "replace_id": "" }, "HP:0100274": { "name": [ "gustatory lacrimation", "gustatory lacrimation" ], "alt_id": [], "def": "Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.", "synonym": [], "xref": [ "UMLS:C1862052" ], "is_a": [ "HP:0000632", "HP:0031910" ], "is_obsolete": "", "replace_id": "" }, "HP:0100275": { "name": [ "diffuse cerebellar atrophy", "diffuse cerebellar atrophy" ], "alt_id": [ "HP:0006928" ], "def": "Diffuse unlocalised atrophy affecting the cerebellum.", "synonym": [], "xref": [ "UMLS:C1854699" ], "is_a": [ "HP:0001272" ], "is_obsolete": "", "replace_id": "" }, "HP:0100276": { "name": [ "skin pit", "skin pit" ], "alt_id": [], "def": "A small, skin-lined tract that leads from the surface to deep within the tissues.", "synonym": [ [ "skin pit", "skin pit" ], [ "skin pits", "skin pit" ] ], "xref": [ "UMLS:C4020712", "UMLS:C4022172" ], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0100277": { "name": [ "periauricular skin pits", "periauricular skin pit" ], "alt_id": [], "def": "Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.", "synonym": [ [ "periauricular earpits", "periauricular earpits" ], [ "periauricular fistulas", "periauricular fistula" ], [ "periauricular pits", "periauricular pit" ], [ "periauricular sinus", "periauricular sinus" ], [ "pits around the ear", "pit around the ear" ] ], "xref": [ "UMLS:C4022171" ], "is_a": [ "HP:0000383", "HP:0100276" ], "is_obsolete": "", "replace_id": "" }, "HP:0100279": { "name": [ "ulcerative colitis", "ulcerative colitis" ], "alt_id": [], "def": "A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.", "synonym": [ [ "colitis ulcerosa", "colitis ulcerosa" ] ], "xref": [ "MSH:D003093", "SNOMEDCT_US:64766004", "UMLS:C0009324" ], "is_a": [ "HP:0100281" ], "is_obsolete": "", "replace_id": "" }, "HP:0100280": { "name": [ "crohn 's disease", "crohn 's disease" ], "alt_id": [], "def": "A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.", "synonym": [ [ "granulomatous enteritis and colitis", "granulomatous enteritis and colitis" ], [ "morbus crohn", "morbus crohn" ] ], "xref": [ "MSH:D003424", "SNOMEDCT_US:34000006", "UMLS:C0010346" ], "is_a": [ "HP:0004386" ], "is_obsolete": "", "replace_id": "" }, "HP:0100281": { "name": [ "chronic colitis", "chronic colitis" ], "alt_id": [], "def": "A chronic inflammatory disease of the large intestine (colon, cecum and rectum).", "synonym": [], "xref": [ "SNOMEDCT_US:54597004", "UMLS:C0267375" ], "is_a": [ "HP:0002583" ], "is_obsolete": "", "replace_id": "" }, "HP:0100282": { "name": [ "acute colitis", "acute colitis" ], "alt_id": [], "def": "An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).", "synonym": [], "xref": [ "UMLS:C2118460" ], "is_a": [ "HP:0002583" ], "is_obsolete": "", "replace_id": "" }, "HP:0100283": { "name": [ "emg : continuous motor unit activity at rest", "emg : continuous motor unit activity at rest" ], "alt_id": [], "def": "Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles.", "synonym": [], "xref": [ "UMLS:C4022170" ], "is_a": [ "HP:0003457" ], "is_obsolete": "", "replace_id": "" }, "HP:0100284": { "name": [ "emg : myotonic discharges", "emg : myotonic discharge" ], "alt_id": [], "def": "High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.", "synonym": [], "xref": [ "UMLS:C4022169" ], "is_a": [ "HP:0003457" ], "is_obsolete": "", "replace_id": "" }, "HP:0100285": { "name": [ "emg : impaired neuromuscular transmission", "emg : impaired neuromuscular transmission" ], "alt_id": [], "def": "An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP).", "synonym": [], "xref": [ "UMLS:C4022168" ], "is_a": [ "HP:0003457" ], "is_obsolete": "", "replace_id": "" }, "HP:0100287": { "name": [ "emg : slow motor conduction", "emg : slow motor conduction" ], "alt_id": [], "def": "The presence of reduced conduction velocity of motor nerves on electromyography.", "synonym": [], "xref": [ "UMLS:C4022167" ], "is_a": [ "HP:0003457" ], "is_obsolete": "", "replace_id": "" }, "HP:0100288": { "name": [ "emg : myokymic discharges", "emg : myokymic discharge" ], "alt_id": [], "def": "The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding.", "synonym": [], "xref": [ "UMLS:C4022166" ], "is_a": [ "HP:0002411", "HP:0003457" ], "is_obsolete": "", "replace_id": "" }, "HP:0100289": { "name": [ "abnormality of pattern reversal visual evoked potentials", "abnormality of pattern reversal visual evoke potential" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of pattern reversal vep", "abnormality of pattern reversal vep" ] ], "xref": [ "UMLS:C4022165" ], "is_a": [ "HP:0030455" ], "is_obsolete": "", "replace_id": "" }, "HP:0100290": { "name": [ "abnormality of peripheral somatosensory evoked potentials", "abnormality of peripheral somatosensory evoke potential" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022164" ], "is_a": [ "HP:0007377" ], "is_obsolete": "", "replace_id": "" }, "HP:0100291": { "name": [ "abnormality of central somatosensory evoked potentials", "abnormality of central somatosensory evoke potential" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022163" ], "is_a": [ "HP:0007377" ], "is_obsolete": "", "replace_id": "" }, "HP:0100292": { "name": [ "amyloidosis of peripheral nerves", "amyloidosis of peripheral nerve" ], "alt_id": [], "def": "The presence of amyloid deposition in the nerves of the peripheral nervous system.", "synonym": [], "xref": [ "UMLS:C4022162" ], "is_a": [ "HP:0011034", "HP:0045010" ], "is_obsolete": "", "replace_id": "" }, "HP:0100293": { "name": [ "muscle fiber hypertrophy", "muscle fiber hypertrophy" ], "alt_id": [], "def": "", "synonym": [ [ "muscle fibre hypertrophy", "muscle fibre hypertrophy" ] ], "xref": [ "SNOMEDCT_US:42091004", "UMLS:C0333759" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0100295": { "name": [ "muscle fiber atrophy", "muscle fiber atrophy" ], "alt_id": [ "HP:0100294" ], "def": "", "synonym": [ [ "muscle fiber degeneration", "muscle fiber degeneration" ], [ "muscle fibre atrophy", "muscle fibre atrophy" ], [ "muscle fibre degeneration", "muscle fibre degeneration" ] ], "xref": [ "SNOMEDCT_US:67867005", "UMLS:C0333751" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0100296": { "name": [ "perifascicular muscle fiber atrophy", "perifascicular muscle fiber atrophy" ], "alt_id": [], "def": "", "synonym": [ [ "perifascicular muscle fibre atrophy", "perifascicular muscle fibre atrophy" ] ], "xref": [ "SNOMEDCT_US:87196003", "UMLS:C0333757" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0100297": { "name": [ "increased endomysial connective tissue", "increase endomysial connective tissue" ], "alt_id": [], "def": "An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium.", "synonym": [], "xref": [ "UMLS:C4022161" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0100298": { "name": [ "motheaten muscle fibers", "motheaten muscle fiber" ], "alt_id": [], "def": "", "synonym": [ [ "motheaten muscle fibres", "motheaten muscle fibre" ] ], "xref": [ "UMLS:C4022160" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0100299": { "name": [ "muscle fiber inclusion bodies", "muscle fiber inclusion body" ], "alt_id": [], "def": "", "synonym": [ [ "muscle fibre inclusion bodies", "muscle fibre inclusion body" ] ], "xref": [ "UMLS:C4022159" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0100300": { "name": [ "desmin bodies", "desmin body" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022158" ], "is_a": [ "HP:0100303" ], "is_obsolete": "", "replace_id": "" }, "HP:0100301": { "name": [ "muscle fiber tubular inclusions", "muscle fiber tubular inclusion" ], "alt_id": [], "def": "Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities.", "synonym": [ [ "muscle fiber tubular aggregates", "muscle fiber tubular aggregate" ], [ "muscle fibre tubular aggregates", "muscle fibre tubular aggregate" ], [ "muscle fibre tubular inclusions", "muscle fibre tubular inclusion" ] ], "xref": [ "UMLS:C4021024" ], "is_a": [ "HP:0100303" ], "is_obsolete": "", "replace_id": "" }, "HP:0100302": { "name": [ "muscle fiber tubuloreticular inclusions", "muscle fiber tubuloreticular inclusion" ], "alt_id": [], "def": "", "synonym": [ [ "muscle fiber tubuloreticular aggregates", "muscle fiber tubuloreticular aggregate" ], [ "muscle fibre tubuloreticular aggregates", "muscle fibre tubuloreticular aggregate" ], [ "muscle fibre tubuloreticular inclusions", "muscle fibre tubuloreticular inclusion" ] ], "xref": [ "UMLS:C4021023" ], "is_a": [ "HP:0100303" ], "is_obsolete": "", "replace_id": "" }, "HP:0100303": { "name": [ "muscle fiber cytoplasmatic inclusion bodies", "muscle fiber cytoplasmatic inclusion body" ], "alt_id": [ "HP:0003790" ], "def": "The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.", "synonym": [ [ "muscle fiber cytoplasmic bodies", "muscle fiber cytoplasmic body" ], [ "muscle fibre cytoplasmatic inclusion bodies", "muscle fibre cytoplasmatic inclusion body" ], [ "muscle fibre cytoplasmic bodies", "muscle fibre cytoplasmic body" ] ], "xref": [ "UMLS:C4022157" ], "is_a": [ "HP:0100299" ], "is_obsolete": "", "replace_id": "" }, "HP:0100304": { "name": [ "muscle fiber intranuclear inclusion bodies", "muscle fiber intranuclear inclusion body" ], "alt_id": [], "def": "The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.", "synonym": [ [ "muscle fibre intranuclear inclusion bodies", "muscle fibre intranuclear inclusion body" ] ], "xref": [ "UMLS:C4022156" ], "is_a": [ "HP:0100299" ], "is_obsolete": "", "replace_id": "" }, "HP:0100305": { "name": [ "ring fibers", "ring fiber" ], "alt_id": [], "def": "Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation.", "synonym": [ [ "ring fibres", "ring fibre" ] ], "xref": [ "SNOMEDCT_US:47913008", "UMLS:C0333770" ], "is_a": [ "HP:0004303" ], "is_obsolete": "", "replace_id": "" }, "HP:0100306": { "name": [ "muscle fiber hyaline bodies", "muscle fiber hyaline body" ], "alt_id": [], "def": "", "synonym": [ [ "muscle fibre hyaline bodies", "muscle fibre hyaline body" ] ], "xref": [ "UMLS:C4022155" ], "is_a": [ "HP:0100303" ], "is_obsolete": "", "replace_id": "" }, "HP:0100307": { "name": [ "cerebellar hemisphere hypoplasia", "cerebellar hemisphere hypoplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022154" ], "is_a": [ "HP:0001321" ], "is_obsolete": "", "replace_id": "" }, "HP:0100308": { "name": [ "cerebral cortical hemiatrophy", "cerebral cortical hemiatrophy" ], "alt_id": [], "def": "Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.", "synonym": [], "xref": [ "UMLS:C4022153" ], "is_a": [ "HP:0002120" ], "is_obsolete": "", "replace_id": "" }, "HP:0100309": { "name": [ "subdural hemorrhage", "subdural hemorrhage" ], "alt_id": [], "def": "Hemorrhage occurring between the dura mater and the arachnoid mater.", "synonym": [ [ "subdural haematoma", "subdural haematoma" ], [ "subdural haemorrhage", "subdural haemorrhage" ], [ "subdural hematoma", "subdural hematoma" ] ], "xref": [ "MSH:D006408", "SNOMEDCT_US:35486000", "SNOMEDCT_US:95453001", "UMLS:C0018946" ], "is_a": [ "HP:0002170" ], "is_obsolete": "", "replace_id": "" }, "HP:0100310": { "name": [ "epidural hemorrhage", "epidural hemorrhage" ], "alt_id": [], "def": "Hemorrhage occurring between the dura mater and the skull.", "synonym": [ [ "epidural haematoma", "epidural haematoma" ], [ "epidural haemorrhage", "epidural haemorrhage" ], [ "epidural hematoma", "epidural hematoma" ], [ "extradural haematoma", "extradural haematoma" ], [ "extradural hematoma", "extradural hematoma" ] ], "xref": [ "MSH:D006407", "SNOMEDCT_US:428268007", "SNOMEDCT_US:82999001", "UMLS:C0238154" ], "is_a": [ "HP:0002170" ], "is_obsolete": "", "replace_id": "" }, "HP:0100311": { "name": [ "cerebral ventricular adhesions", "cerebral ventricular adhesion" ], "alt_id": [], "def": "Bands of scar-like tisssue that hve formed within a cerebral ventricle.", "synonym": [], "xref": [ "UMLS:C4022152" ], "is_a": [ "HP:0002118" ], "is_obsolete": "", "replace_id": "" }, "HP:0100312": { "name": [ "cerebral germinoma", "cerebral germinoma" ], "alt_id": [], "def": "The presence of a germ cell tumor of the cerebrum.", "synonym": [], "xref": [ "NCIT:C3708", "UMLS:C4022151" ], "is_a": [ "HP:0100620", "HP:0100835", "HP:0100836" ], "is_obsolete": "", "replace_id": "" }, "HP:0100313": { "name": [ "cerebral granulomatosis", "cerebral granulomatosis" ], "alt_id": [], "def": "Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.", "synonym": [], "xref": [ "UMLS:C4022150" ], "is_a": [ "HP:0002060", "HP:0002955" ], "is_obsolete": "", "replace_id": "" }, "HP:0100314": { "name": [ "cerebral inclusion bodies", "cerebral inclusion body" ], "alt_id": [], "def": "Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.", "synonym": [], "xref": [ "UMLS:C4022149" ], "is_a": [ "HP:0002060" ], "is_obsolete": "", "replace_id": "" }, "HP:0100315": { "name": [ "lewy bodies", "lewy body" ], "alt_id": [], "def": "", "synonym": [ [ "lewy body disease", "lewy body disease" ] ], "xref": [ "MSH:D016631", "MSH:D020961", "SNOMEDCT_US:312991009", "SNOMEDCT_US:43127003", "SNOMEDCT_US:80098002", "UMLS:C0085200", "UMLS:C0752347" ], "is_a": [ "HP:0100314" ], "is_obsolete": "", "replace_id": "" }, "HP:0100316": { "name": [ "hirano bodies", "hirano body" ], "alt_id": [], "def": "Intracellular aggregates of actin and actin-associated proteins within nerve cells.", "synonym": [], "xref": [ "SNOMEDCT_US:57458003", "UMLS:C0521178" ], "is_a": [ "HP:0100314" ], "is_obsolete": "", "replace_id": "" }, "HP:0100317": { "name": [ "argyrophilic inclusion bodies", "argyrophilic inclusion body" ], "alt_id": [], "def": "Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.", "synonym": [ [ "agyrophilic inclusion bodies", "agyrophilic inclusion body" ], [ "pick inclusion bodies", "pick inclusion body" ] ], "xref": [ "UMLS:C4021022" ], "is_a": [ "HP:0100314" ], "is_obsolete": "", "replace_id": "" }, "HP:0100318": { "name": [ "lafora bodies", "lafora body" ], "alt_id": [], "def": "An intraneuronal inclusion body composed of acid mucopolysaccharides.", "synonym": [], "xref": [ "SNOMEDCT_US:87554006", "UMLS:C0333749" ], "is_a": [ "HP:0100314" ], "is_obsolete": "", "replace_id": "" }, "HP:0100319": { "name": [ "cerebral hyaline bodies", "cerebral hyaline body" ], "alt_id": [], "def": "Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance.", "synonym": [ [ "cerebral colloid bodies", "cerebral colloid body" ] ], "xref": [ "UMLS:C4021021" ], "is_a": [ "HP:0100314" ], "is_obsolete": "", "replace_id": "" }, "HP:0100320": { "name": [ "rosenthal fibers", "rosenthal fiber" ], "alt_id": [], "def": "Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders.", "synonym": [ [ "rosenthal fibres", "rosenthal fibre" ] ], "xref": [ "SNOMEDCT_US:84605001", "UMLS:C0333731" ], "is_a": [ "HP:0100314" ], "is_obsolete": "", "replace_id": "" }, "HP:0100321": { "name": [ "abnormal dentate nucleus morphology", "abnormal dentate nucleus morphology" ], "alt_id": [], "def": "An abnormality of the dentate nucleus.", "synonym": [ [ "abnormality of the dentate nucleus", "abnormality of the dentate nucleus" ] ], "xref": [ "UMLS:C4022148" ], "is_a": [ "HP:0001317" ], "is_obsolete": "", "replace_id": "" }, "HP:0100322": { "name": [ "aplasia of the pyramidal tract", "aplasia of the pyramidal tract" ], "alt_id": [], "def": "", "synonym": [ [ "absent pyramidal tract", "absent pyramidal tract" ] ], "xref": [ "UMLS:C4022147" ], "is_a": [ "HP:0007363" ], "is_obsolete": "", "replace_id": "" }, "HP:0100323": { "name": [ "juvenile aseptic necrosis", "juvenile aseptic necrosis" ], "alt_id": [], "def": "Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.", "synonym": [ [ "aseptic epiphyseal necrosis", "aseptic epiphyseal necrosis" ] ], "xref": [ "UMLS:C4020710", "UMLS:C4022146" ], "is_a": [ "HP:0010885" ], "is_obsolete": "", "replace_id": "" }, "HP:0100324": { "name": [ "scleroderma", "scleroderma" ], "alt_id": [ "HP:0001594", "HP:0007426" ], "def": "A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.", "synonym": [ [ "progressive systemic scleroderma", "progressive systemic scleroderma" ], [ "pseudoscleroderma", "pseudoscleroderma" ] ], "xref": [ "MSH:D012594", "SNOMEDCT_US:403524003", "SNOMEDCT_US:89155008", "UMLS:C0011644", "UMLS:C1274865" ], "is_a": [ "HP:0001072" ], "is_obsolete": "", "replace_id": "" }, "HP:0100326": { "name": [ "immunologic hypersensitivity", "immunologic hypersensitivity" ], "alt_id": [], "def": "Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.", "synonym": [], "xref": [ "UMLS:C0237653" ], "is_a": [ "HP:0010978" ], "is_obsolete": "", "replace_id": "" }, "HP:0100327": { "name": [ "cow milk allergy", "cow milk allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against cow milk protein.", "synonym": [ [ "cow milk allergy", "cow milk allergy" ], [ "ige - mediated cow milk allergy", "ige - mediate cow milk allergy" ], [ "immunoglobulin e - mediated cow milk allergy", "immunoglobulin e - mediate cow milk allergy" ], [ "milk allergy", "milk allergy" ] ], "xref": [ "SNOMEDCT_US:15911003", "UMLS:C0266815" ], "is_a": [ "HP:0410327" ], "is_obsolete": "", "replace_id": "" }, "HP:0100328": { "name": [ "carpometacarpal synostosis", "carpometacarpal synostosis" ], "alt_id": [], "def": "Fusion involving carpal and metacarpal bones.", "synonym": [ [ "fused wrist bones and long bones of hand", "fuse wrist bone and long bone of hand" ] ], "xref": [ "UMLS:C4022145" ], "is_a": [ "HP:0009701", "HP:0009702" ], "is_obsolete": "", "replace_id": "" }, "HP:0100329": { "name": [ "tarsometatarsal synostosis", "tarsometatarsal synostosis" ], "alt_id": [], "def": "", "synonym": [ [ "fused bones of the midfoot", "fuse bone of the midfoot" ] ], "xref": [ "UMLS:C4022144" ], "is_a": [ "HP:0001440", "HP:0008368" ], "is_obsolete": "", "replace_id": "" }, "HP:0100333": { "name": [ "unilateral cleft lip", "unilateral cleft lip" ], "alt_id": [ "HP:0100331" ], "def": "A non-midline cleft of the upper lip on one side only.", "synonym": [ [ "one sided cleft upper lip", "one side cleft upper lip" ], [ "unilateral cheiloschisis", "unilateral cheiloschisis" ], [ "unilateral cleft upper lip", "unilateral cleft upper lip" ] ], "xref": [ "SNOMEDCT_US:304067009", "UMLS:C0392006" ], "is_a": [ "HP:0100335" ], "is_obsolete": "", "replace_id": "" }, "HP:0100334": { "name": [ "unilateral cleft palate", "unilateral cleft palate" ], "alt_id": [], "def": "", "synonym": [ [ "one sided cleft palate", "one side cleft palate" ], [ "unilateral palatoschisis", "unilateral palatoschisis" ] ], "xref": [ "UMLS:C4022143" ], "is_a": [ "HP:0100338" ], "is_obsolete": "", "replace_id": "" }, "HP:0100335": { "name": [ "non - midline cleft lip", "non - midline cleft lip" ], "alt_id": [ "HP:0010283", "HP:0100332" ], "def": "Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.", "synonym": [ [ "non - midline cleft of the upper lip", "non - midline cleft of the upper lip" ], [ "paramedian cleft of the upper lip", "paramedian cleft of the upper lip" ] ], "xref": [ "UMLS:C4021020" ], "is_a": [ "HP:0000204" ], "is_obsolete": "", "replace_id": "" }, "HP:0100336": { "name": [ "bilateral cleft lip", "bilateral cleft lip" ], "alt_id": [], "def": "A non-midline cleft of the upper lip on the left and right sides.", "synonym": [ [ "bilateral cheiloschisis", "bilateral cheiloschisis" ], [ "both sided cleft lip", "both side cleft lip" ], [ "right and left cleft lip", "right and leave cleft lip" ] ], "xref": [ "SNOMEDCT_US:304068004", "UMLS:C0392005" ], "is_a": [ "HP:0100335" ], "is_obsolete": "", "replace_id": "" }, "HP:0100337": { "name": [ "bilateral cleft palate", "bilateral cleft palate" ], "alt_id": [], "def": "Nonmidline cleft palate on the left and right sides.", "synonym": [ [ "bilateral palatoschisis", "bilateral palatoschisis" ], [ "right and left cleft palate", "right and leave cleft palate" ] ], "xref": [ "UMLS:C3553084" ], "is_a": [ "HP:0100338" ], "is_obsolete": "", "replace_id": "" }, "HP:0100338": { "name": [ "non - midline cleft palate", "non - midline cleft palate" ], "alt_id": [], "def": "", "synonym": [ [ "paramedian cleft palate", "paramedian cleft palate" ] ], "xref": [ "UMLS:C4022142" ], "is_a": [ "HP:0000175" ], "is_obsolete": "", "replace_id": "" }, "HP:0100339": { "name": [ "abnormality of the os naviculare pedis", "abnormality of the o naviculare pedis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022141" ], "is_a": [ "HP:0001850" ], "is_obsolete": "", "replace_id": "" }, "HP:0100340": { "name": [ "fibular deviation of the 4th toe", "fibular deviation of the 4th toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022140" ], "is_a": [ "HP:0010338" ], "is_obsolete": "", "replace_id": "" }, "HP:0100341": { "name": [ "tibial deviation of the 4th toe", "tibial deviation of the 4th toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022139" ], "is_a": [ "HP:0010338" ], "is_obsolete": "", "replace_id": "" }, "HP:0100342": { "name": [ "fibular deviation of the 3rd toe", "fibular deviation of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022138" ], "is_a": [ "HP:0010332" ], "is_obsolete": "", "replace_id": "" }, "HP:0100343": { "name": [ "tibial deviation of the 3rd toe", "tibial deviation of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022137" ], "is_a": [ "HP:0010332" ], "is_obsolete": "", "replace_id": "" }, "HP:0100344": { "name": [ "fibular deviation of the 2nd toe", "fibular deviation of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022136" ], "is_a": [ "HP:0010326" ], "is_obsolete": "", "replace_id": "" }, "HP:0100345": { "name": [ "tibial deviation of the 2nd toe", "tibial deviation of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022135" ], "is_a": [ "HP:0010326" ], "is_obsolete": "", "replace_id": "" }, "HP:0100346": { "name": [ "fibular deviation of the 5th toe", "fibular deviation of the 5th toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022134" ], "is_a": [ "HP:0010344" ], "is_obsolete": "", "replace_id": "" }, "HP:0100347": { "name": [ "tibial deviation of the 5th toe", "tibial deviation of the 5th toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022133" ], "is_a": [ "HP:0010344" ], "is_obsolete": "", "replace_id": "" }, "HP:0100348": { "name": [ "contracture of the proximal interphalangeal joint of the 2nd toe", "contracture of the proximal interphalangeal joint of the 2nd toe" ], "alt_id": [], "def": "The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.", "synonym": [ [ "camptodactyly of the 2nd toe", "camptodactyly of the 2nd toe" ], [ "camptodactyly of the second toe", "camptodactyly of the second toe" ] ], "xref": [ "UMLS:C4021019" ], "is_a": [ "HP:0001836", "HP:0010327" ], "is_obsolete": "", "replace_id": "" }, "HP:0100349": { "name": [ "contracture of the proximal interphalangeal joint of the 3rd toe", "contracture of the proximal interphalangeal joint of the 3rd toe" ], "alt_id": [], "def": "The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.", "synonym": [ [ "camptodactyly of the 3rd toe", "camptodactyly of the 3rd toe" ] ], "xref": [ "UMLS:C4021018" ], "is_a": [ "HP:0001836", "HP:0010333" ], "is_obsolete": "", "replace_id": "" }, "HP:0100350": { "name": [ "contracture of the proximal interphalangeal joint of the 4th toe", "contracture of the proximal interphalangeal joint of the 4th toe" ], "alt_id": [], "def": "The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively.", "synonym": [ [ "camptodactyly of the 4th toe", "camptodactyly of the 4th toe" ], [ "camptodactyly of the fourth toe", "camptodactyly of the fourth toe" ], [ "contracture of the innermost hinge joint of the 4th toe", "contracture of the innermost hinge joint of the 4th toe" ] ], "xref": [ "UMLS:C4021017" ], "is_a": [ "HP:0001836", "HP:0010339" ], "is_obsolete": "", "replace_id": "" }, "HP:0100351": { "name": [ "contractures of the proximal interphalangeal joint of the 5th toe", "contracture of the proximal interphalangeal joint of the 5th toe" ], "alt_id": [], "def": "The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively.", "synonym": [ [ "camptodactyly of the 5th toe", "camptodactyly of the 5th toe" ], [ "camptodactyly of the fifth toe", "camptodactyly of the fifth toe" ] ], "xref": [ "UMLS:C4021016" ], "is_a": [ "HP:0001836", "HP:0010345" ], "is_obsolete": "", "replace_id": "" }, "HP:0100352": { "name": [ "contracture of the distal interphalangeal joint of the 2nd toe", "contracture of the distal interphalangeal joint of the 2nd toe" ], "alt_id": [], "def": "The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.", "synonym": [ [ "contracture of the distal interphalangeal joint of the second toe", "contracture of the distal interphalangeal joint of the second toe" ] ], "xref": [ "UMLS:C4021015" ], "is_a": [ "HP:0010327" ], "is_obsolete": "", "replace_id": "" }, "HP:0100353": { "name": [ "contracture of the distal interphalangeal joint of the 3rd toe", "contracture of the distal interphalangeal joint of the 3rd toe" ], "alt_id": [], "def": "The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.", "synonym": [], "xref": [ "UMLS:C4022132" ], "is_a": [ "HP:0010333" ], "is_obsolete": "", "replace_id": "" }, "HP:0100354": { "name": [ "contracture of the distal interphalangeal joint of the 4th toe", "contracture of the distal interphalangeal joint of the 4th toe" ], "alt_id": [], "def": "The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively.", "synonym": [], "xref": [ "UMLS:C4022131" ], "is_a": [ "HP:0010339" ], "is_obsolete": "", "replace_id": "" }, "HP:0100355": { "name": [ "contractures of the distal interphalangeal joint of the 5th toe", "contracture of the distal interphalangeal joint of the 5th toe" ], "alt_id": [], "def": "The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively.", "synonym": [ [ "contracture of the outermost hinge joint of the 5th toe", "contracture of the outermost hinge joint of the 5th toe" ] ], "xref": [ "UMLS:C4022130" ], "is_a": [ "HP:0010345" ], "is_obsolete": "", "replace_id": "" }, "HP:0100356": { "name": [ "contracture of the metatarsophalangeal joint of the 2nd toe", "contracture of the metatarsophalangeal joint of the 2nd toe" ], "alt_id": [], "def": "The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively.", "synonym": [], "xref": [ "UMLS:C4022129" ], "is_a": [ "HP:0010327" ], "is_obsolete": "", "replace_id": "" }, "HP:0100357": { "name": [ "contracture of the metatarsophalangeal joint of the 3rd toe", "contracture of the metatarsophalangeal joint of the 3rd toe" ], "alt_id": [], "def": "The joint between the second metatarsal and the proximal phalanx of the 3rd toe cannot be straightened actively or passively.", "synonym": [], "xref": [ "UMLS:C4022128" ], "is_a": [ "HP:0010333" ], "is_obsolete": "", "replace_id": "" }, "HP:0100358": { "name": [ "contracture of the metatarsophalangeal joint of the 4th toe", "contracture of the metatarsophalangeal joint of the 4th toe" ], "alt_id": [], "def": "The joint between the second metatarsal and the proximal phalanx of the 4th toe cannot be straightened actively or passively.", "synonym": [], "xref": [ "UMLS:C4022127" ], "is_a": [ "HP:0010339" ], "is_obsolete": "", "replace_id": "" }, "HP:0100359": { "name": [ "contracture of the metatarsophalangeal joint of the 5th toe", "contracture of the metatarsophalangeal joint of the 5th toe" ], "alt_id": [], "def": "The joint between the second metatarsal and the proximal phalanx of the 5th toe cannot be straightened actively or passively.", "synonym": [], "xref": [ "UMLS:C4022126" ], "is_a": [ "HP:0010345" ], "is_obsolete": "", "replace_id": "" }, "HP:0100360": { "name": [ "contractures of the joints of the upper limbs", "contracture of the joint of the upper limb" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C2750635" ], "is_a": [ "HP:0003121" ], "is_obsolete": "", "replace_id": "" }, "HP:0100362": { "name": [ "aplasia of the phalanges of the 3rd toe", "aplasia of the phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent digital bone of the 3rd toe", "absent digital bone of the 3rd toe" ] ], "xref": [ "UMLS:C4022125" ], "is_a": [ "HP:0010331", "HP:0010359", "HP:0010745" ], "is_obsolete": "", "replace_id": "" }, "HP:0100363": { "name": [ "aplasia of the phalanges of the 4th toe", "aplasia of the phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent bones of the 4th toe", "absent bone of the 4th toe" ] ], "xref": [ "UMLS:C4022124" ], "is_a": [ "HP:0010337", "HP:0010371", "HP:0010745" ], "is_obsolete": "", "replace_id": "" }, "HP:0100364": { "name": [ "aplasia of the phalanges of the 5th toe", "aplasia of the phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent little toe bones", "absent little toe bone" ], [ "absent pinkie toe bones", "absent pinkie toe bone" ], [ "absent pinky toe bones", "absent pinky toe bone" ] ], "xref": [ "UMLS:C4022123" ], "is_a": [ "HP:0010343", "HP:0010383", "HP:0010745" ], "is_obsolete": "", "replace_id": "" }, "HP:0100366": { "name": [ "short phalanx of the 3rd toe", "short phalanx of the 3rd toe" ], "alt_id": [], "def": "Developmental hypoplasia of the phalanx of third toe.", "synonym": [ [ "hypoplastic / small phalanges of the 3rd toe", "hypoplastic / small phalanx of the 3rd toe" ], [ "short 3rd toe bone", "short 3rd toe bone" ], [ "short phalanx of the third toe", "short phalanx of the third toe" ] ], "xref": [ "UMLS:C4021014" ], "is_a": [ "HP:0010331", "HP:0010359", "HP:0010746" ], "is_obsolete": "", "replace_id": "" }, "HP:0100367": { "name": [ "short phalanx of the 4th toe", "short phalanx of the 4th toe" ], "alt_id": [], "def": "Developmental hypoplasia of one or more phalanx of fourth toe.", "synonym": [ [ "hypoplastic / small phalanges of the 4th toe", "hypoplastic / small phalanx of the 4th toe" ], [ "short 4th toe bone", "short 4th toe bone" ], [ "short phalanx of the fourth toe", "short phalanx of the fourth toe" ] ], "xref": [ "UMLS:C4021013" ], "is_a": [ "HP:0010337", "HP:0010371", "HP:0010746" ], "is_obsolete": "", "replace_id": "" }, "HP:0100368": { "name": [ "short phalanx of the 5th toe", "short phalanx of the 5th toe" ], "alt_id": [], "def": "Developmental hypoplasia of one or more phalanx of little toe.", "synonym": [ [ "hypoplastic / small phalanges of the 5th toe", "hypoplastic / small phalanx of the 5th toe" ], [ "short little toe bone", "short little toe bone" ], [ "short phalanx of the fifth toe", "short phalanx of the fifth toe" ], [ "short pinkie toe bone", "short pinkie toe bone" ], [ "short pinky toe bone", "short pinky toe bone" ] ], "xref": [ "UMLS:C4021012" ], "is_a": [ "HP:0010343", "HP:0010383", "HP:0010746" ], "is_obsolete": "", "replace_id": "" }, "HP:0100369": { "name": [ "aplasia / hypoplasia of the distal phalanx of the 3rd toe", "aplasia / hypoplasia of the distal phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small outermost 3rd toe bone", "absent / small outermost 3rd toe bone" ], [ "absent / underdeveloped outermost 3rd toe bone", "absent / underdevelop outermost 3rd toe bone" ] ], "xref": [ "UMLS:C4022122" ], "is_a": [ "HP:0010185", "HP:0010331", "HP:0010359", "HP:0010368" ], "is_obsolete": "", "replace_id": "" }, "HP:0100370": { "name": [ "aplasia / hypoplasia of the distal phalanx of the 4th toe", "aplasia / hypoplasia of the distal phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small outermost bone of 4th toe", "absent / small outermost bone of 4th toe" ], [ "absent / underdeveloped outermost bone of 4th toe", "absent / underdevelop outermost bone of 4th toe" ] ], "xref": [ "UMLS:C4022121" ], "is_a": [ "HP:0010185", "HP:0010337", "HP:0010371", "HP:0010380" ], "is_obsolete": "", "replace_id": "" }, "HP:0100371": { "name": [ "aplasia / hypoplasia of the distal phalanx of the 5th toe", "aplasia / hypoplasia of the distal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small outermost little toe bone", "absent / small outermost little toe bone" ], [ "absent / small outermost pinkie toe bone", "absent / small outermost pinkie toe bone" ], [ "absent / small outermost pinky toe bone", "absent / small outermost pinky toe bone" ], [ "absent / underdeveloped outermost pinky toe bone", "absent / underdevelop outermost pinky toe bone" ] ], "xref": [ "UMLS:C4022120" ], "is_a": [ "HP:0010185", "HP:0010343", "HP:0010383", "HP:0010392" ], "is_obsolete": "", "replace_id": "" }, "HP:0100372": { "name": [ "aplasia / hypoplasia of the middle phalanx of the 3rd toe", "aplasia / hypoplasia of the middle phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small middle 3rd toe bone", "absent / small middle 3rd toe bone" ], [ "absent / underdeveloped middle 3rd toe bone", "absent / underdevelop middle 3rd toe bone" ] ], "xref": [ "UMLS:C4022119" ], "is_a": [ "HP:0010194", "HP:0010331", "HP:0010359", "HP:0010369" ], "is_obsolete": "", "replace_id": "" }, "HP:0100373": { "name": [ "aplasia / hypoplasia of the middle phalanx of the 4th toe", "aplasia / hypoplasia of the middle phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small middle bone of the 4th toe", "absent / small middle bone of the 4th toe" ], [ "absent / underdeveloped middle bone of the 4th toe", "absent / underdevelop middle bone of the 4th toe" ] ], "xref": [ "UMLS:C4022118" ], "is_a": [ "HP:0010194", "HP:0010337", "HP:0010371", "HP:0010381" ], "is_obsolete": "", "replace_id": "" }, "HP:0100374": { "name": [ "aplasia / hypoplasia of the middle phalanx of the 5th toe", "aplasia / hypoplasia of the middle phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent / small middle 5th toe bone", "absent / small middle 5th toe bone" ], [ "absent / underdeveloped middle bone of little toe", "absent / underdevelop middle bone of little toe" ], [ "absent / underdeveloped middle bone of pinkie toe", "absent / underdevelop middle bone of pinkie toe" ], [ "absent / underdeveloped middle bone of pinky toe", "absent / underdevelop middle bone of pinky toe" ] ], "xref": [ "UMLS:C4022117" ], "is_a": [ "HP:0010194", "HP:0010343", "HP:0010383", "HP:0010393" ], "is_obsolete": "", "replace_id": "" }, "HP:0100375": { "name": [ "aplasia / hypoplasia of the proximal phalanx of the 3rd toe", "aplasia / hypoplasia of the proximal phalanx of the 3rd toe" ], "alt_id": [], "def": "Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe.", "synonym": [ [ "absent / small innermost bone of 3rd toe", "absent / small innermost bone of 3rd toe" ], [ "absent / underdeveloped innermost bone of 3rd toe", "absent / underdevelop innermost bone of 3rd toe" ] ], "xref": [ "UMLS:C4022116" ], "is_a": [ "HP:0010203", "HP:0010331", "HP:0010359", "HP:0010370" ], "is_obsolete": "", "replace_id": "" }, "HP:0100376": { "name": [ "aplasia / hypoplasia of the proximal phalanx of the 4th toe", "aplasia / hypoplasia of the proximal phalanx of the 4th toe" ], "alt_id": [], "def": "Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe.", "synonym": [ [ "absent / small innermost 4th toe bone", "absent / small innermost 4th toe bone" ], [ "absent / underdeveloped innermost 4th toe bone", "absent / underdevelop innermost 4th toe bone" ] ], "xref": [ "UMLS:C4022115" ], "is_a": [ "HP:0010203", "HP:0010337", "HP:0010371", "HP:0010382" ], "is_obsolete": "", "replace_id": "" }, "HP:0100377": { "name": [ "aplasia / hypoplasia of the proximal phalanx of the 5th toe", "aplasia / hypoplasia of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe.", "synonym": [ [ "absent / small innermost little toe bone", "absent / small innermost little toe bone" ], [ "absent / small innermost pinkie toe bone", "absent / small innermost pinkie toe bone" ], [ "absent / small innermost pinky toe bone", "absent / small innermost pinky toe bone" ], [ "absent / underdeveloped innermost 5th toe bone", "absent / underdevelop innermost 5th toe bone" ] ], "xref": [ "UMLS:C4022114" ], "is_a": [ "HP:0010203", "HP:0010343", "HP:0010383", "HP:0010394" ], "is_obsolete": "", "replace_id": "" }, "HP:0100378": { "name": [ "absent distal phalanx of the 3rd toe", "absent distal phalanx of the 3rd toe" ], "alt_id": [], "def": "Developmental aplasia of the distal phalanx of third toe.", "synonym": [ [ "absent distal phalanx of the third toe", "absent distal phalanx of the third toe" ], [ "absent outermost bone of the 3rd toe", "absent outermost bone of the 3rd toe" ], [ "aplasia of the distal phalanx of the 3rd toe", "aplasia of the distal phalanx of the 3rd toe" ] ], "xref": [ "UMLS:C4021011" ], "is_a": [ "HP:0010645", "HP:0100362", "HP:0100369" ], "is_obsolete": "", "replace_id": "" }, "HP:0100379": { "name": [ "aplasia of the distal phalanx of the 4th toe", "aplasia of the distal phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent distal phalanx of the 4th toe", "absent distal phalanx of the 4th toe" ], [ "absent outermost bone of the 4th toe", "absent outermost bone of the 4th toe" ] ], "xref": [ "UMLS:C4022113" ], "is_a": [ "HP:0010645", "HP:0100363", "HP:0100370" ], "is_obsolete": "", "replace_id": "" }, "HP:0100380": { "name": [ "aplasia of the distal phalanx of the 5th toe", "aplasia of the distal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent outermost bone of the little toe", "absent outermost bone of the little toe" ], [ "absent outermost bone of the pinkie toe", "absent outermost bone of the pinkie toe" ], [ "absent outermost bone of the pinky toe", "absent outermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022112" ], "is_a": [ "HP:0010645", "HP:0100364", "HP:0100371" ], "is_obsolete": "", "replace_id": "" }, "HP:0100381": { "name": [ "absent middle phalanx of the 3rd toe", "absent middle phalanx of the 3rd toe" ], "alt_id": [], "def": "Developmental aplasia of the middle phalanx of third toe.", "synonym": [ [ "absent middle bone of the 3rd toe", "absent middle bone of the 3rd toe" ], [ "absent middle phalanx of the third toe", "absent middle phalanx of the third toe" ], [ "aplasia of the middle phalanx of the 3rd toe", "aplasia of the middle phalanx of the 3rd toe" ] ], "xref": [ "UMLS:C4021010" ], "is_a": [ "HP:0100362", "HP:0100372", "HP:0100387" ], "is_obsolete": "", "replace_id": "" }, "HP:0100382": { "name": [ "aplasia of the middle phalanx of the 4th toe", "aplasia of the middle phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent middle bone of 4th toe", "absent middle bone of 4th toe" ] ], "xref": [ "UMLS:C4022111" ], "is_a": [ "HP:0100363", "HP:0100373", "HP:0100387" ], "is_obsolete": "", "replace_id": "" }, "HP:0100383": { "name": [ "aplasia of the middle phalanx of the 5th toe", "aplasia of the middle phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent middle bone of little toe", "absent middle bone of little toe" ], [ "absent middle bone of pinkie toe", "absent middle bone of pinkie toe" ], [ "absent middle bone of pinky toe", "absent middle bone of pinky toe" ] ], "xref": [ "UMLS:C4022110" ], "is_a": [ "HP:0100364", "HP:0100374", "HP:0100387" ], "is_obsolete": "", "replace_id": "" }, "HP:0100384": { "name": [ "absent proximal phalanx of the 3rd toe", "absent proximal phalanx of the 3rd toe" ], "alt_id": [], "def": "Absence of proximal phalanx of third toe, owing to a congenital defect of development.", "synonym": [ [ "absent innermost bone of the 3rd toe", "absent innermost bone of the 3rd toe" ], [ "aplasia of the proximal phalanx of the 3rd toe", "aplasia of the proximal phalanx of the 3rd toe" ] ], "xref": [ "UMLS:C4021009" ], "is_a": [ "HP:0100362", "HP:0100375", "HP:0100388" ], "is_obsolete": "", "replace_id": "" }, "HP:0100385": { "name": [ "aplasia of the proximal phalanx of the 4th toe", "aplasia of the proximal phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent innermost bone of the 4th toe", "absent innermost bone of the 4th toe" ] ], "xref": [ "UMLS:C4022109" ], "is_a": [ "HP:0100363", "HP:0100376", "HP:0100388" ], "is_obsolete": "", "replace_id": "" }, "HP:0100386": { "name": [ "aplasia of the proximal phalanx of the 5th toe", "aplasia of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent innermost bone of the little toe", "absent innermost bone of the little toe" ], [ "absent innermost bone of the pinkie toe", "absent innermost bone of the pinkie toe" ], [ "absent innermost bone of the pinky toe", "absent innermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022108" ], "is_a": [ "HP:0100364", "HP:0100377", "HP:0100388" ], "is_obsolete": "", "replace_id": "" }, "HP:0100387": { "name": [ "aplasia of the middle phalanges of the toes", "aplasia of the middle phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent middle toe bones", "absent middle toe bone" ] ], "xref": [ "UMLS:C4022107" ], "is_a": [ "HP:0010745" ], "is_obsolete": "", "replace_id": "" }, "HP:0100388": { "name": [ "aplasia of the proximal phalanges of the toes", "aplasia of the proximal phalanx of the toe" ], "alt_id": [], "def": "", "synonym": [ [ "absent innermost toe bones", "absent innermost toe bone" ] ], "xref": [ "UMLS:C4022106" ], "is_a": [ "HP:0010745" ], "is_obsolete": "", "replace_id": "" }, "HP:0100389": { "name": [ "short distal phalanx of the 3rd toe", "short distal phalanx of the 3rd toe" ], "alt_id": [], "def": "Developmental hypoplasia of the distal phalanx of third toe.", "synonym": [ [ "hypoplastic / small distal phalanx of the 3rd toe", "hypoplastic / small distal phalanx of the 3rd toe" ], [ "short distal phalanx of the third toe", "short distal phalanx of the third toe" ], [ "short outermost bone of the 3rd toe", "short outermost bone of the 3rd toe" ] ], "xref": [ "UMLS:C4021008" ], "is_a": [ "HP:0100366", "HP:0100369" ], "is_obsolete": "", "replace_id": "" }, "HP:0100390": { "name": [ "short distal phalanx of the 4th toe", "short distal phalanx of the 4th toe" ], "alt_id": [], "def": "Developmental hypoplasia of the distal phalanx of fourth toe.", "synonym": [ [ "hypoplastic / small distal phalanx of the 4th toe", "hypoplastic / small distal phalanx of the 4th toe" ], [ "short distal phalanx of the fourth toe", "short distal phalanx of the fourth toe" ], [ "short outermost bone of the 4th toe", "short outermost bone of the 4th toe" ] ], "xref": [ "UMLS:C4021007" ], "is_a": [ "HP:0100367", "HP:0100370" ], "is_obsolete": "", "replace_id": "" }, "HP:0100391": { "name": [ "short distal phalanx of the 5th toe", "short distal phalanx of the 5th toe" ], "alt_id": [], "def": "Developmental hypoplasia of the distal phalanx of little toe.", "synonym": [ [ "hypoplastic / small distal phalanx of the 5th toe", "hypoplastic / small distal phalanx of the 5th toe" ], [ "short distal phalanx of the fifth toe", "short distal phalanx of the fifth toe" ], [ "short outermost bone of the little toe", "short outermost bone of the little toe" ], [ "short outermost bone of the pinkie toe", "short outermost bone of the pinkie toe" ], [ "short outermost bone of the pinky toe", "short outermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4021006" ], "is_a": [ "HP:0100368", "HP:0100371" ], "is_obsolete": "", "replace_id": "" }, "HP:0100392": { "name": [ "short middle phalanx of the 3rd toe", "short middle phalanx of the 3rd toe" ], "alt_id": [], "def": "Developmental hypoplasia of the middle phalanx of third toe.", "synonym": [ [ "hypoplastic / small middle phalanx of the 3rd toe", "hypoplastic / small middle phalanx of the 3rd toe" ], [ "short middle phalanx of the third toe", "short middle phalanx of the third toe" ] ], "xref": [ "UMLS:C4021005" ], "is_a": [ "HP:0100366", "HP:0100372" ], "is_obsolete": "", "replace_id": "" }, "HP:0100393": { "name": [ "short middle phalanx of the 4th toe", "short middle phalanx of the 4th toe" ], "alt_id": [], "def": "Developmental hypoplasia of the middle phalanx of fourth toe.", "synonym": [ [ "hypoplastic / small middle phalanx of the 4th toe", "hypoplastic / small middle phalanx of the 4th toe" ], [ "short middle bone of 4th toe", "short middle bone of 4th toe" ], [ "short middle phalanx of the fourth toe", "short middle phalanx of the fourth toe" ] ], "xref": [ "UMLS:C4021004" ], "is_a": [ "HP:0100367", "HP:0100373" ], "is_obsolete": "", "replace_id": "" }, "HP:0100394": { "name": [ "short middle phalanx of the 5th toe", "short middle phalanx of the 5th toe" ], "alt_id": [], "def": "Developmental hypoplasia of the middle phalanx of the 5th toe.", "synonym": [ [ "hypoplastic / small middle phalanx of the 5th toe", "hypoplastic / small middle phalanx of the 5th toe" ], [ "short middle bone of little toe", "short middle bone of little toe" ], [ "short middle bone of pinkie toe", "short middle bone of pinkie toe" ], [ "short middle bone of pinky toe", "short middle bone of pinky toe" ], [ "short middle phalanx of the fifth toe", "short middle phalanx of the fifth toe" ] ], "xref": [ "UMLS:C4021003" ], "is_a": [ "HP:0100368", "HP:0100374" ], "is_obsolete": "", "replace_id": "" }, "HP:0100395": { "name": [ "short proximal phalanx of the 3rd toe", "short proximal phalanx of the 3rd toe" ], "alt_id": [], "def": "Abnormal reduction in length of proximal phalanx of third toe.", "synonym": [ [ "hypoplastic / small proximal phalanx of the 3rd toe", "hypoplastic / small proximal phalanx of the 3rd toe" ], [ "short proximal phalanx of the third toe", "short proximal phalanx of the third toe" ] ], "xref": [ "UMLS:C4021002" ], "is_a": [ "HP:0100366", "HP:0100375" ], "is_obsolete": "", "replace_id": "" }, "HP:0100396": { "name": [ "short proximal phalanx of the 4th toe", "short proximal phalanx of the 4th toe" ], "alt_id": [ "HP:0005628" ], "def": "Developmental hypoplasia of the proximal phalanx of fourth toe.", "synonym": [ [ "hypoplastic / small proximal phalanx of the 4th toe", "hypoplastic / small proximal phalanx of the 4th toe" ], [ "short fourth toe proximal phalanx", "short fourth toe proximal phalanx" ], [ "short proximal phalanx of the fourth toe", "short proximal phalanx of the fourth toe" ] ], "xref": [ "UMLS:C4021001" ], "is_a": [ "HP:0100367", "HP:0100376" ], "is_obsolete": "", "replace_id": "" }, "HP:0100397": { "name": [ "short proximal phalanx of the 5th toe", "short proximal phalanx of the 5th toe" ], "alt_id": [], "def": "Developmental hypoplasia of the proximal phalanx of fifth toe.", "synonym": [ [ "hypoplastic / small proximal phalanx of the 5th toe", "hypoplastic / small proximal phalanx of the 5th toe" ], [ "short innermost bone of little toe", "short innermost bone of little toe" ], [ "short innermost bone of pinkie toe", "short innermost bone of pinkie toe" ], [ "short innermost bone of pinky toe", "short innermost bone of pinky toe" ], [ "short proximal phalanx of the fifth toe", "short proximal phalanx of the fifth toe" ] ], "xref": [ "UMLS:C4021000" ], "is_a": [ "HP:0100368", "HP:0100377" ], "is_obsolete": "", "replace_id": "" }, "HP:0100398": { "name": [ "duplication of the distal phalanx of the 3rd toe", "duplication of the distal phalanx of the 3rd toe" ], "alt_id": [], "def": "Partial or complete duplication of distal phalanx of third toe.", "synonym": [ [ "duplication of the distal phalanx of the third toe", "duplication of the distal phalanx of the third toe" ], [ "duplication of the outermost bone of the 3rd toe", "duplication of the outermost bone of the 3rd toe" ], [ "partial / complete duplication of the distal phalanx of the 3rd toe", "partial / complete duplication of the distal phalanx of the 3rd toe" ] ], "xref": [ "UMLS:C4020999" ], "is_a": [ "HP:0010367", "HP:0010368" ], "is_obsolete": "", "replace_id": "" }, "HP:0100399": { "name": [ "duplication of the distal phalanx of the 4th toe", "duplication of the distal phalanx of the 4th toe" ], "alt_id": [], "def": "Partial or complete duplication of the distal phalanx of fourth toe.", "synonym": [ [ "duplication of the distal phalanx of the fourth toe", "duplication of the distal phalanx of the fourth toe" ], [ "duplication of the outermost bone of the 4th toe", "duplication of the outermost bone of the 4th toe" ], [ "partial / complete duplication of the distal phalanx of the 4th toe", "partial / complete duplication of the distal phalanx of the 4th toe" ] ], "xref": [ "UMLS:C4020998" ], "is_a": [ "HP:0010379", "HP:0010380" ], "is_obsolete": "", "replace_id": "" }, "HP:0100400": { "name": [ "duplication of the distal phalanx of the 5th toe", "duplication of the distal phalanx of the 5th toe" ], "alt_id": [], "def": "Partial or complete duplication of the distal phalanx of little toe.", "synonym": [ [ "duplication of the distal phalanx of the fifth toe", "duplication of the distal phalanx of the fifth toe" ], [ "duplication of the outermost bone of the fifth toe", "duplication of the outermost bone of the fifth toe" ], [ "duplication of the outermost bone of the little toe", "duplication of the outermost bone of the little toe" ], [ "duplication of the outermost bone of the pinkie toe", "duplication of the outermost bone of the pinkie toe" ], [ "duplication of the outermost bone of the pinky toe", "duplication of the outermost bone of the pinky toe" ], [ "partial / complete duplication of the distal phalanx of the 5th toe", "partial / complete duplication of the distal phalanx of the 5th toe" ] ], "xref": [ "UMLS:C4020997" ], "is_a": [ "HP:0010391", "HP:0010392" ], "is_obsolete": "", "replace_id": "" }, "HP:0100401": { "name": [ "duplication of the middle phalanx of the 3rd toe", "duplication of the middle phalanx of the 3rd toe" ], "alt_id": [], "def": "Partial or complete duplication of middle phalanx of third toe.", "synonym": [ [ "duplication of the middle bone of the 3rd toe", "duplication of the middle bone of the 3rd toe" ], [ "duplication of the middle phalanx of the third toe", "duplication of the middle phalanx of the third toe" ], [ "partial / complete duplication of the middle phalanx of the 3rd toe", "partial / complete duplication of the middle phalanx of the 3rd toe" ] ], "xref": [ "UMLS:C4020996" ], "is_a": [ "HP:0010202", "HP:0010367", "HP:0010369" ], "is_obsolete": "", "replace_id": "" }, "HP:0100402": { "name": [ "duplication of the middle phalanx of the 4th toe", "duplication of the middle phalanx of the 4th toe" ], "alt_id": [], "def": "Partial or complete duplication of middle phalanx of fourth toe.", "synonym": [ [ "duplication of the middle bone of the 4th toe", "duplication of the middle bone of the 4th toe" ], [ "duplication of the middle phalanx of the fourth toe", "duplication of the middle phalanx of the fourth toe" ], [ "partial / complete duplication of the middle phalanx of the 4th toe", "partial / complete duplication of the middle phalanx of the 4th toe" ] ], "xref": [ "UMLS:C4020995" ], "is_a": [ "HP:0010379", "HP:0010381" ], "is_obsolete": "", "replace_id": "" }, "HP:0100403": { "name": [ "duplication of the middle phalanx of the 5th toe", "duplication of the middle phalanx of the 5th toe" ], "alt_id": [], "def": "Partial or complete duplication of the middle phalanx of the 5th toe.", "synonym": [ [ "duplication of the middle bone of the little toe", "duplication of the middle bone of the little toe" ], [ "duplication of the middle bone of the pinkie toe", "duplication of the middle bone of the pinkie toe" ], [ "duplication of the middle bone of the pinky toe", "duplication of the middle bone of the pinky toe" ], [ "duplication of the middle phalanx of the fifth toe", "duplication of the middle phalanx of the fifth toe" ], [ "partial / complete duplication of the middle phalanx of the 5th toe", "partial / complete duplication of the middle phalanx of the 5th toe" ] ], "xref": [ "UMLS:C4020994" ], "is_a": [ "HP:0010202", "HP:0010391", "HP:0010393" ], "is_obsolete": "", "replace_id": "" }, "HP:0100404": { "name": [ "duplication of the proximal phalanx of the 3rd toe", "duplication of the proximal phalanx of the 3rd toe" ], "alt_id": [], "def": "Partial or complete duplication of proximal phalanx of third toe.", "synonym": [ [ "duplication of the innermost 3rd toe bone", "duplication of the innermost 3rd toe bone" ], [ "duplication of the proximal phalanx of the third toe", "duplication of the proximal phalanx of the third toe" ], [ "partial / complete duplication of the proximal phalanx of the 3rd toe", "partial / complete duplication of the proximal phalanx of the 3rd toe" ] ], "xref": [ "UMLS:C4020993" ], "is_a": [ "HP:0010211", "HP:0010367", "HP:0010370" ], "is_obsolete": "", "replace_id": "" }, "HP:0100405": { "name": [ "duplication of the proximal phalanx of the 4th toe", "duplication of the proximal phalanx of the 4th toe" ], "alt_id": [], "def": "Partial or complete duplication of the proximal phalanx of fourth toe.", "synonym": [ [ "duplication of the innermost 4th toe bone", "duplication of the innermost 4th toe bone" ], [ "duplication of the proximal phalanx of the fourth toe", "duplication of the proximal phalanx of the fourth toe" ], [ "partial / complete duplication of the proximal phalanx of the 4th toe", "partial / complete duplication of the proximal phalanx of the 4th toe" ] ], "xref": [ "UMLS:C4020992" ], "is_a": [ "HP:0010211", "HP:0010379", "HP:0010382" ], "is_obsolete": "", "replace_id": "" }, "HP:0100406": { "name": [ "duplication of the proximal phalanx of the 5th toe", "duplication of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "Partial or complete duplication of the proximal phalanx of fifth toe.", "synonym": [ [ "duplication of the innermost bone of the little toe", "duplication of the innermost bone of the little toe" ], [ "duplication of the innermost bone of the pinkie toe", "duplication of the innermost bone of the pinkie toe" ], [ "duplication of the innermost bone of the pinky toe", "duplication of the innermost bone of the pinky toe" ], [ "duplication of the proximal phalanx of the fifth toe", "duplication of the proximal phalanx of the fifth toe" ], [ "partial / complete duplication of the proximal phalanx of the 5th toe", "partial / complete duplication of the proximal phalanx of the 5th toe" ] ], "xref": [ "UMLS:C4020991" ], "is_a": [ "HP:0010391", "HP:0010394" ], "is_obsolete": "", "replace_id": "" }, "HP:0100407": { "name": [ "complete duplication of the distal phalanx of the 3rd toe", "complete duplication of the distal phalanx of the 3rd toe" ], "alt_id": [], "def": "Complete duplication of distal phalanx of third toe.", "synonym": [ [ "complete duplication of the distal phalanx of the third toe", "complete duplication of the distal phalanx of the third toe" ], [ "complete duplication of the outermost bone of the 3rd toe", "complete duplication of the outermost bone of the 3rd toe" ] ], "xref": [ "UMLS:C4020990" ], "is_a": [ "HP:0100398" ], "is_obsolete": "", "replace_id": "" }, "HP:0100408": { "name": [ "complete duplication of the distal phalanx of the 4th toe", "complete duplication of the distal phalanx of the 4th toe" ], "alt_id": [], "def": "Complete duplication of the distal phalanx of fourth toe.", "synonym": [ [ "complete duplication of the distal phalanx of the fourth toe", "complete duplication of the distal phalanx of the fourth toe" ], [ "complete duplication of the outermost bone of the 4th toe", "complete duplication of the outermost bone of the 4th toe" ] ], "xref": [ "UMLS:C4020989" ], "is_a": [ "HP:0100399" ], "is_obsolete": "", "replace_id": "" }, "HP:0100409": { "name": [ "complete duplication of the distal phalanx of the 5th toe", "complete duplication of the distal phalanx of the 5th toe" ], "alt_id": [], "def": "Complete duplication of the distal phalanx of little toe.", "synonym": [ [ "complete duplication of the distal phalanx of the fifth toe", "complete duplication of the distal phalanx of the fifth toe" ], [ "complete duplication of the outermost bone of the little toe", "complete duplication of the outermost bone of the little toe" ], [ "complete duplication of the outermost bone of the pinkie toe", "complete duplication of the outermost bone of the pinkie toe" ], [ "complete duplication of the outermost bone of the pinky toe", "complete duplication of the outermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4020988" ], "is_a": [ "HP:0100400" ], "is_obsolete": "", "replace_id": "" }, "HP:0100410": { "name": [ "complete duplication of the middle phalanx of the 3rd toe", "complete duplication of the middle phalanx of the 3rd toe" ], "alt_id": [], "def": "Complete duplication of middle phalanx of third toe.", "synonym": [ [ "complete duplication of the middle bone of the 3rd toe", "complete duplication of the middle bone of the 3rd toe" ], [ "complete duplication of the middle phalanx of the third toe", "complete duplication of the middle phalanx of the third toe" ] ], "xref": [ "UMLS:C4020987" ], "is_a": [ "HP:0100401" ], "is_obsolete": "", "replace_id": "" }, "HP:0100411": { "name": [ "complete duplication of the middle phalanx of the 4th toe", "complete duplication of the middle phalanx of the 4th toe" ], "alt_id": [], "def": "Complete duplication of middle phalanx of fourth toe.", "synonym": [ [ "complete duplication of the middle bone of the 4th toe", "complete duplication of the middle bone of the 4th toe" ], [ "complete duplication of the middle phalanx of the fourth toe", "complete duplication of the middle phalanx of the fourth toe" ] ], "xref": [ "UMLS:C4020986" ], "is_a": [ "HP:0100402" ], "is_obsolete": "", "replace_id": "" }, "HP:0100412": { "name": [ "complete duplication of the middle phalanx of the 5th toe", "complete duplication of the middle phalanx of the 5th toe" ], "alt_id": [], "def": "Complete duplication of the middle phalanx of the 5th toe.", "synonym": [ [ "complete duplication of the middle bone of the little toe", "complete duplication of the middle bone of the little toe" ], [ "complete duplication of the middle bone of the pinkie toe", "complete duplication of the middle bone of the pinkie toe" ], [ "complete duplication of the middle bone of the pinky toe", "complete duplication of the middle bone of the pinky toe" ], [ "complete duplication of the middle phalanx of the fifth toe", "complete duplication of the middle phalanx of the fifth toe" ] ], "xref": [ "UMLS:C4020985" ], "is_a": [ "HP:0100403" ], "is_obsolete": "", "replace_id": "" }, "HP:0100413": { "name": [ "complete duplication of the proximal phalanx of the 3rd toe", "complete duplication of the proximal phalanx of the 3rd toe" ], "alt_id": [], "def": "Complete duplication of proximal phalanx of third toe.", "synonym": [ [ "complete duplication of the innermost 3rd toe bone", "complete duplication of the innermost 3rd toe bone" ] ], "xref": [ "UMLS:C4022105" ], "is_a": [ "HP:0100404" ], "is_obsolete": "", "replace_id": "" }, "HP:0100414": { "name": [ "complete duplication of the proximal phalanx of the 4th toe", "complete duplication of the proximal phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "complete duplication of the innermost 4th toe bone", "complete duplication of the innermost 4th toe bone" ] ], "xref": [ "UMLS:C4022104" ], "is_a": [ "HP:0100405" ], "is_obsolete": "", "replace_id": "" }, "HP:0100415": { "name": [ "complete duplication of the proximal phalanx of the 5th toe", "complete duplication of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "Complete duplication of the proximal phalanx of fifth toe.", "synonym": [ [ "complete duplication of the innermost bone of the little toe", "complete duplication of the innermost bone of the little toe" ], [ "complete duplication of the innermost bone of the pinkie toe", "complete duplication of the innermost bone of the pinkie toe" ], [ "complete duplication of the innermost bone of the pinky toe", "complete duplication of the innermost bone of the pinky toe" ], [ "complete duplication of the proximal phalanx of the fifth toe", "complete duplication of the proximal phalanx of the fifth toe" ] ], "xref": [ "UMLS:C4020984" ], "is_a": [ "HP:0100406" ], "is_obsolete": "", "replace_id": "" }, "HP:0100416": { "name": [ "partial duplication of the distal phalanx of the 3rd toe", "partial duplication of the distal phalanx of the 3rd toe" ], "alt_id": [], "def": "Partial duplication of distal phalanx of third toe.", "synonym": [ [ "partial duplication of the distal phalanx of the third toe", "partial duplication of the distal phalanx of the third toe" ], [ "partial 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increase in bone density in the middle bone of the 3rd toe" ] ], "xref": [ "UMLS:C4022066" ], "is_a": [ "HP:0010199", "HP:0010364", "HP:0100936" ], "is_obsolete": "", "replace_id": "" }, "HP:0100462": { "name": [ "patchy sclerosis of the middle phalanx of the 4th toe", "patchy sclerosis of the middle phalanx of the 4th toe" ], "alt_id": [], "def": "Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.", "synonym": [ [ "uneven increase in bone density in middle bone of the 4th toe", "uneven increase in bone density in middle bone of the 4th toe" ] ], "xref": [ "UMLS:C4022065" ], "is_a": [ "HP:0010199", "HP:0010376", "HP:0100937" ], "is_obsolete": "", "replace_id": "" }, "HP:0100463": { "name": [ "patchy sclerosis of the middle phalanx of the 5th toe", "patchy sclerosis of the middle phalanx of the 5th toe" ], "alt_id": [], "def": "Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.", "synonym": [ [ "uneven increase in bone density in the middle bone of the little toe", "uneven increase in bone density in the middle bone of the little toe" ], [ "uneven increase in bone density in the middle bone of the pinkie toe", "uneven increase in bone density in the middle bone of the pinkie toe" ], [ "uneven increase in bone density in the middle bone of the pinky toe", "uneven increase in bone density in the middle bone of the pinky toe" ] ], "xref": [ "UMLS:C4022064" ], "is_a": [ "HP:0010199", "HP:0010388", "HP:0100938" ], "is_obsolete": "", "replace_id": "" }, "HP:0100464": { "name": [ "patchy sclerosis of the proximal phalanx of the 3rd toe", "patchy sclerosis of the proximal phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "uneven increase in bone density in the innermost bone of the 3rd toe", "uneven increase in bone density in the innermost bone of the 3rd toe" ] ], "xref": [ "UMLS:C4022063" ], "is_a": [ "HP:0010208", "HP:0010364", "HP:0100932" ], "is_obsolete": "", "replace_id": "" }, "HP:0100465": { "name": [ "patchy sclerosis of the proximal phalanx of the 4th toe", "patchy sclerosis of the proximal phalanx of the 4th toe" ], "alt_id": [], "def": "Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.", "synonym": [ [ "uneven increase in bone density in the innermost bone of the 4th toe", "uneven increase in bone density in the innermost bone of the 4th toe" ] ], "xref": [ "UMLS:C4022062" ], "is_a": [ "HP:0010208", "HP:0010376", "HP:0100933" ], "is_obsolete": "", "replace_id": "" }, "HP:0100466": { "name": [ "patchy sclerosis of the proximal phalanx of the 5th toe", "patchy sclerosis of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.", "synonym": [ [ "uneven increase in bone density in the innermost bone of the little toe", "uneven increase in bone density in the innermost bone of the little toe" ], [ "uneven increase in bone density in the innermost bone of the pinkie toe", "uneven increase in bone density in the innermost bone of the pinkie toe" ], [ "uneven increase in bone density in the innermost bone of the pinky toe", "uneven increase in bone density in the innermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022061" ], "is_a": [ "HP:0010208", "HP:0010388", "HP:0100934" ], "is_obsolete": "", "replace_id": "" }, "HP:0100467": { "name": [ "patchy sclerosis of the distal phalanx of the 3rd toe", "patchy sclerosis of the distal phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "uneven increase in bone density in the outermost bone of the 3rd toe", "uneven increase in bone density in the outermost bone of the 3rd toe" ] ], "xref": [ "UMLS:C4022060" ], "is_a": [ "HP:0010190", "HP:0010364", "HP:0100940" ], "is_obsolete": "", "replace_id": "" }, "HP:0100468": { "name": [ "patchy sclerosis of the distal phalanx of the 4th toe", "patchy sclerosis of the distal phalanx of the 4th toe" ], "alt_id": [], "def": "Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.", "synonym": [ [ "uneven increase in bone density in the outermost bone of the 4th toe", "uneven increase in bone density in the outermost bone of the 4th toe" ] ], "xref": [ "UMLS:C4022059" ], "is_a": [ "HP:0010190", "HP:0010376", "HP:0100941" ], "is_obsolete": "", "replace_id": "" }, "HP:0100469": { "name": [ "patchy sclerosis of the distal phalanx of the 5th toe", "patchy sclerosis of the distal phalanx of the 5th toe" ], "alt_id": [], "def": "Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.", "synonym": [ [ "uneven increase in bone density in the outermost little toe bone", "uneven increase in bone density in the outermost little toe bone" ], [ "uneven increase in bone density in the outermost pinkie toe bone", "uneven increase in bone density in the outermost pinkie toe bone" ], [ "uneven increase in bone density in the outermost pinky toe bone", "uneven increase in bone density in the outermost pinky toe bone" ] ], "xref": [ "UMLS:C4022058" ], "is_a": [ "HP:0010190", "HP:0010388", "HP:0100942" ], "is_obsolete": "", "replace_id": "" }, "HP:0100470": { "name": [ "symphalangism affecting the middle phalanx of the 3rd toe", "symphalangism affect the middle phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused middle bones of 3rd toe", "fuse middle bone of 3rd toe" ] ], "xref": [ "UMLS:C4022057" ], "is_a": [ "HP:0010365" ], "is_obsolete": "", "replace_id": "" }, "HP:0100471": { "name": [ "symphalangism affecting the middle phalanx of the 4th toe", "symphalangism affect the middle phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused middle bones of 4th toe", "fuse middle bone of 4th toe" ] ], "xref": [ "UMLS:C4022056" ], "is_a": [ "HP:0010377" ], "is_obsolete": "", "replace_id": "" }, "HP:0100472": { "name": [ "symphalangism affecting the middle phalanx of the 5th toe", "symphalangism affect the middle phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused middle bones of 5th toe", "fuse middle bone of 5th toe" ] ], "xref": [ "UMLS:C4022055" ], "is_a": [ "HP:0010389" ], "is_obsolete": "", "replace_id": "" }, "HP:0100473": { "name": [ "symphalangism affecting the proximal phalanx of the 3rd toe", "symphalangism affect the proximal phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused innermost bone of 3rd toe", "fuse innermost bone of 3rd toe" ] ], "xref": [ "UMLS:C4022054" ], "is_a": [ "HP:0010365" ], "is_obsolete": "", "replace_id": "" }, "HP:0100474": { "name": [ "symphalangism affecting the proximal phalanx of the 4th toe", "symphalangism affect the proximal phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused innermost bones of 4th toe", "fuse innermost bone of 4th toe" ] ], "xref": [ "UMLS:C4022053" ], "is_a": [ "HP:0010377" ], "is_obsolete": "", "replace_id": "" }, "HP:0100475": { "name": [ "symphalangism affecting the proximal phalanx of the 5th toe", "symphalangism affect the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused innermost bone of little toe", "fuse innermost bone of little toe" ], [ "fused innermost bone of pinkie toe", "fuse innermost bone of pinkie toe" ], [ "fused innermost bone of pinky toe", "fuse innermost bone of pinky toe" ] ], "xref": [ "UMLS:C4022052" ], "is_a": [ "HP:0010389" ], "is_obsolete": "", "replace_id": "" }, "HP:0100476": { "name": [ "symphalangism affecting the distal phalanx of the 3rd toe", "symphalangism affect the distal phalanx of the 3rd toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused outermost bone of 3rd toe", "fuse outermost bone of 3rd toe" ] ], "xref": [ "UMLS:C4022051" ], "is_a": [ "HP:0001859", "HP:0100470" ], "is_obsolete": "", "replace_id": "" }, "HP:0100477": { "name": [ "symphalangism affecting the distal phalanx of the 4th toe", "symphalangism affect the distal phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused outermost bone of the 4th toe", "fuse outermost bone of the 4th toe" ] ], "xref": [ "UMLS:C4022050" ], "is_a": [ "HP:0001859", "HP:0100471" ], "is_obsolete": "", "replace_id": "" }, "HP:0100478": { "name": [ "symphalangism affecting the distal phalanx of the 5th toe", "symphalangism affect the distal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "fused outermost bones of the little toe", "fuse outermost bone of the little toe" ], [ "fused outermost bones of the pinkie toe", "fuse outermost bone of the pinkie toe" ], [ "fused outermost bones of the pinky toe", "fuse outermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022049" ], "is_a": [ "HP:0001859", "HP:0100472" ], "is_obsolete": "", "replace_id": "" }, "HP:0100480": { "name": [ "proximal / middle symphalangism of 3rd toe", "proximal / middle symphalangism of 3rd toe" ], "alt_id": [], "def": "Bony fusion of the middle and proximal phalanges of the 3rd toe.", "synonym": [ [ "fused innermost and middle bones of 3rd toe", "fuse innermost and middle bone of 3rd toe" ], [ "symphalangism of the middle and proximal phalanges of the 3rd toe", "symphalangism of the middle and proximal phalanx of the 3rd toe" ] ], "xref": [ "UMLS:C4020975" ], "is_a": [ "HP:0010378", "HP:0100237", "HP:0100470", "HP:0100473" ], "is_obsolete": "", "replace_id": "" }, "HP:0100481": { "name": [ "proximal / middle symphalangism of 4th toe", "proximal / middle symphalangism of 4th toe" ], "alt_id": [], "def": "Bony fusion of the middle and proximal phalanges of the 4th toe.", "synonym": [ [ "fused innermost and middle bones of 4th toe", "fuse innermost and middle bone of 4th toe" ], [ "symphalangism of the middle and proximal phalanges of the 4th toe", "symphalangism of the middle and proximal phalanx of the 4th toe" ] ], "xref": [ "UMLS:C4020974" ], "is_a": [ "HP:0010390", "HP:0100237", "HP:0100471", "HP:0100474" ], "is_obsolete": "", "replace_id": "" }, "HP:0100482": { "name": [ "proximal / middle symphalangism of 5th toe", "proximal / middle symphalangism of 5th toe" ], "alt_id": [], "def": "Bony fusion of the middle and proximal phalanges of the 5th toe.", "synonym": [ [ "fused innermost and middle little toe bones", "fuse innermost and middle little toe bone" ], [ "fused innermost and middle pinkie toe bones", "fuse innermost and middle pinkie toe bone" ], [ "fused innermost and middle pinky toe bones", "fuse innermost and middle pinky toe bone" ], [ "symphalangism of the middle and proximal phalanges of the 5th toe", "symphalangism of the middle and proximal phalanx of the 5th toe" ] ], "xref": [ "UMLS:C4020973" ], "is_a": [ "HP:0010366", "HP:0100237", "HP:0100472", "HP:0100475" ], "is_obsolete": "", "replace_id": "" }, "HP:0100483": { "name": [ "symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal", "symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal" ], "alt_id": [], "def": "", "synonym": [ [ "fused innermost bone of 2nd toe with the 2nd long bone of foot", "fuse innermost bone of 2nd toe with the 2nd long bone of foot" ] ], "xref": [ "UMLS:C4022048" ], "is_a": [ "HP:0001440", "HP:0010378", "HP:0010401" ], "is_obsolete": "", "replace_id": "" }, "HP:0100484": { "name": [ "symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal", "symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal" ], "alt_id": [], "def": "", "synonym": [ [ "fused innermost bones of third toe with 3rd long bone of foot", "fuse innermost bone of third toe with 3rd long bone of foot" ] ], "xref": [ "UMLS:C4022047" ], "is_a": [ "HP:0001440", "HP:0010390", "HP:0100473" ], "is_obsolete": "", "replace_id": "" }, "HP:0100485": { "name": [ "symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal", "symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal" ], "alt_id": [], "def": "", "synonym": [ [ "fused innermost bone of the 4th toe with 4th long bone of foot", "fuse innermost bone of the 4th toe with 4th long bone of foot" ] ], "xref": [ "UMLS:C4022046" ], "is_a": [ "HP:0001440", "HP:0010366", "HP:0100474" ], "is_obsolete": "", "replace_id": "" }, "HP:0100486": { "name": [ "symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal", "symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal" ], "alt_id": [], "def": "", "synonym": [ [ "fused innermost pinky toe bone with the 5th long bone of foot", "fuse innermost pinky toe bone with the 5th long bone of foot" ] ], "xref": [ "UMLS:C4022045" ], "is_a": [ "HP:0001440", "HP:0010378", "HP:0100475" ], "is_obsolete": "", "replace_id": "" }, "HP:0100487": { "name": [ "triangular shaped distal phalanx of the 5th toe", "triangular shape distal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "triangular shaped outermost bone of the little toe", "triangular shape outermost bone of the little toe" ], [ "triangular shaped outermost bone of the pinkie toe", "triangular shape outermost bone of the pinkie toe" ], [ "triangular shaped outermost bone of the pinky toe", "triangular shape outermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4022044" ], "is_a": [ "HP:0010390" ], "is_obsolete": "", "replace_id": "" }, "HP:0100488": { "name": [ "synostosis of the proximal phalanx of the hallux with the 1st metatarsal", "synostosis of the proximal phalanx of the hallux with the 1st metatarsal" ], "alt_id": [], "def": "", "synonym": [ [ "fusion of the innermost big toe bone with the 1st long bone of foot", "fusion of the innermost big toe bone with the 1st long bone of foot" ] ], "xref": [ "UMLS:C4022043" ], "is_a": [ "HP:0001440", "HP:0010073", "HP:0010091", "HP:0010209", "HP:0100237" ], "is_obsolete": "", "replace_id": "" }, "HP:0100489": { "name": [ "proximal / middle symphalangism of 2nd toe", "proximal / middle symphalangism of 2nd toe" ], "alt_id": [ "HP:0100479" ], "def": "Bony fusion of the middle and proximal phalanges of the 2nd toe.", "synonym": [ [ "fused middle and innermost bones of 2nd toe", "fuse middle and innermost bone of 2nd toe" ], [ "symphalangism of the middle and proximal phalanges of the 2nd toe", "symphalangism of the middle and proximal phalanx of the 2nd toe" ] ], "xref": [ "UMLS:C4020972" ], "is_a": [ "HP:0010366", "HP:0010401", "HP:0010410", "HP:0100237" ], "is_obsolete": "", "replace_id": "" }, "HP:0100490": { "name": [ "camptodactyly of finger", "camptodactyly of finger" ], "alt_id": [ "HP:0005651", "HP:0005662", "HP:0005713", "HP:0005801", "HP:0005821", "HP:0006195", "HP:0006218", "HP:0006240", "HP:0009698" ], "def": "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.", "synonym": [ [ "camptodactyly of hands", "camptodactyly of hand" ], [ "camptodactyly of proximal interphalangeal joint", "camptodactyly of proximal interphalangeal joint" ], [ "contractures of the proximal interphalangeal joints of the fingers", "contracture of the proximal interphalangeal joint of the finger" ], [ "flexion contractures of proximal interphalangeal joints", "flexion contracture of proximal interphalangeal joint" ], [ "permanent flexion of the finger", "permanent flexion of the finger" ], [ "proximal interphalangeal finger joint contractures", "proximal interphalangeal finger joint contracture" ] ], "xref": [ "SNOMEDCT_US:202281000", "UMLS:C0409348" ], "is_a": [ "HP:0001220", "HP:0006261", "HP:0012385" ], "is_obsolete": "", "replace_id": "" }, "HP:0100491": { "name": [ "abnormality of lower limb joint", "abnormality of low limb joint" ], "alt_id": [ "HP:0100239" ], "def": "", "synonym": [ [ "abnormality of lower limb joint", "abnormality of low limb joint" ], [ "abnormality of the joints of the lower limbs", "abnormality of the joint of the low limb" ] ], "xref": [ "UMLS:C4020971" ], "is_a": [ "HP:0001367", "HP:0002814" ], "is_obsolete": "", "replace_id": "" }, "HP:0100492": { "name": [ "joint contractures involving the joints of the feet", "joint contracture involve the joint of the foot" ], "alt_id": [], "def": "Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.", "synonym": [], "xref": [ "UMLS:C4022042" ], "is_a": [ "HP:0001371", "HP:0100491" ], "is_obsolete": "", "replace_id": "" }, "HP:0100493": { "name": [ "hypoammonemia", "hypoammonemia" ], "alt_id": [], "def": "A decreased concentration of ammonia in the blood.", "synonym": [], "xref": [ "UMLS:C4022041" ], "is_a": [ "HP:0004364" ], "is_obsolete": "", "replace_id": "" }, "HP:0100494": { "name": [ "abnormal mast cell morphology", "abnormal mast cell morphology" ], "alt_id": [], "def": "Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.", "synonym": [ [ "abnormality of mast cells", "abnormality of mast cell" ], [ "abnormality of mastocytes", "abnormality of mastocyte" ] ], "xref": [ "SNOMEDCT_US:397017008", "UMLS:C1301149" ], "is_a": [ "HP:0001911" ], "is_obsolete": "", "replace_id": "" }, "HP:0100495": { "name": [ "mastocytosis", "mastocytosis" ], "alt_id": [], "def": "The presence of an increased number of mast cells and CD34+ mast cell precursors in the body.", "synonym": [], "xref": [ "MSH:D008415", "SNOMEDCT_US:125541005", "SNOMEDCT_US:397007003", "UMLS:C0024899" ], "is_a": [ "HP:0100494" ], "is_obsolete": "", "replace_id": "" }, "HP:0100496": { "name": [ "abnormality of the vitamin b3 metabolism", "abnormality of the vitamin b3 metabolism" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the vitamin b3 metabolism", "abnormality of the vitamin b3 metabolism" ] ], "xref": [ "UMLS:C4022040" ], "is_a": [ "HP:0004340" ], "is_obsolete": "", "replace_id": "" }, "HP:0100497": { "name": [ "vitamin b3 deficiency", "vitamin b3 deficiency" ], "alt_id": [], "def": "", "synonym": [ [ "vitamin b3 deficiency", "vitamin b3 deficiency" ] ], "xref": [ "MSH:D010383", "SNOMEDCT_US:418186002", "SNOMEDCT_US:418279001", "UMLS:C0030783" ], "is_a": [ "HP:0100496" ], "is_obsolete": "", "replace_id": "" }, "HP:0100498": { "name": [ "deviation of toes", "deviation of toe" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022039" ], "is_a": [ "HP:0001780" ], "is_obsolete": "", "replace_id": "" }, "HP:0100499": { "name": [ "tibial deviation of toes", "tibial deviation of toe" ], "alt_id": [], "def": "", "synonym": [ [ "medial deviation of toes", "medial deviation of toe" ] ], "xref": [ "UMLS:C3806533" ], "is_a": [ "HP:0100498" ], "is_obsolete": "", "replace_id": "" }, "HP:0100500": { "name": [ "fibular deviation of toes", "fibular deviation of toe" ], "alt_id": [], "def": "", "synonym": [ [ "lateral deviation of toes", "lateral deviation of toe" ] ], "xref": [ "UMLS:C4020970" ], "is_a": [ "HP:0100498" ], "is_obsolete": "", "replace_id": "" }, "HP:0100501": { "name": [ "recurrent bronchiolitis", "recurrent bronchiolitis" ], "alt_id": [], "def": "An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.", "synonym": [], "xref": [ "UMLS:C4015136" ], "is_a": [ "HP:0002837" ], "is_obsolete": "", "replace_id": "" }, "HP:0100502": { "name": [ "vitamin b12 deficiency", "vitamin b12 deficiency" ], "alt_id": [], "def": "", "synonym": [ [ "vitamin b12 deficiency", "vitamin b12 deficiency" ] ], "xref": [ "MSH:D014806", "SNOMEDCT_US:190634004", "UMLS:C0042847" ], "is_a": [ "HP:0040126" ], "is_obsolete": "", "replace_id": "" }, "HP:0100503": { "name": [ "low levels of vitamin b1", "low level of vitamin b1" ], "alt_id": [], "def": "A reduced concentration of vitamin B1.", "synonym": [ [ "reduced blood thiamine level", "reduce blood thiamine level" ], [ "vitamin b1 deficiency", "vitamin b1 deficiency" ] ], "xref": [ "MSH:D013832", "SNOMEDCT_US:399357009", "UMLS:C0039841" ], "is_a": [ "HP:0004340" ], "is_obsolete": "", "replace_id": "" }, "HP:0100504": { "name": [ "low levels of vitamin b2", "low level of vitamin b2" ], "alt_id": [], "def": "A reduced concentration of vitamin B2.", "synonym": [ [ "riboflavin deficiency", "riboflavin deficiency" ], [ "vitamin b2 deficiency", "vitamin b2 deficiency" ] ], "xref": [ "MSH:D012257", "SNOMEDCT_US:20307000", "UMLS:C0035528" ], "is_a": [ "HP:0004340" ], "is_obsolete": "", "replace_id": "" }, "HP:0100505": { "name": [ "low levels of vitamin b5", "low level of vitamin b5" ], "alt_id": [], "def": "A reduced concentration of vitamin B5.", "synonym": [ [ "vitamin b5 deficiency", "vitamin b5 deficiency" ] ], "xref": [ "UMLS:C4022038" ], "is_a": [ "HP:0004340" ], "is_obsolete": "", "replace_id": "" }, "HP:0100506": { "name": [ "low levels of vitamin b8", "low level of vitamin b8" ], "alt_id": [], "def": "A reduced concentration of vitamin B8.", "synonym": [ [ "vitamin b8 deficiency", "vitamin b8 deficiency" ] ], "xref": [ "UMLS:C4022037" ], "is_a": [ "HP:0004340" ], "is_obsolete": "", "replace_id": "" }, "HP:0100507": { "name": [ "reduced blood folate concentration", "reduce blood folate concentration" ], "alt_id": [], "def": "A reduced circulating concentration of folic acid, which is also known as vitamin B9.", "synonym": [ [ "folate deficiency", "folate deficiency" ], [ "vitamin b9 deficiency", "vitamin b9 deficiency" ] ], "xref": [ "MSH:D005494", "SNOMEDCT_US:190633005", "UMLS:C0016412" ], "is_a": [ "HP:0040087" ], "is_obsolete": "", "replace_id": "" }, "HP:0100508": { "name": [ "abnormality of vitamin metabolism", "abnormality of vitamin metabolism" ], "alt_id": [], "def": "An anomaly in the metabolism of a vitamin.", "synonym": [ [ "abnormality of vitamin metabolism", "abnormality of vitamin metabolism" ] ], "xref": [ "UMLS:C4022036" ], "is_a": [ "HP:0032245" ], "is_obsolete": "", "replace_id": "" }, "HP:0100509": { "name": [ "abnormality of vitamin c metabolism", "abnormality of vitamin c metabolism" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of vitamin c metabolism", "abnormality of vitamin c metabolism" ] ], "xref": [ "UMLS:C4021863" ], "is_a": [ "HP:0100508" ], "is_obsolete": "", "replace_id": "" }, "HP:0100510": { "name": [ "low levels of vitamin c", "low level of vitamin c" ], "alt_id": [], "def": "A reduced concentration of Vitamin C.", "synonym": [ [ "vitamin c deficiency", "vitamin c deficiency" ] ], "xref": [ "MSH:D001206", "SNOMEDCT_US:76169001", "UMLS:C0003969" ], "is_a": [ "HP:0100509" ], "is_obsolete": "", "replace_id": "" }, "HP:0100511": { "name": [ "abnormality of vitamin d metabolism", "abnormality of vitamin d metabolism" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of vitamin d metabolism", "abnormality of vitamin d metabolism" ] ], "xref": [ "UMLS:C4022035" ], "is_a": [ "HP:0100508" ], "is_obsolete": "", "replace_id": "" }, "HP:0100512": { "name": [ "low levels of vitamin d", "low level of vitamin d" ], "alt_id": [], "def": "A reduced concentration of Vitamin D.", "synonym": [ [ "deficient in vitamin d", "deficient in vitamin d" ], [ "vitamin d deficiency", "vitamin d deficiency" ] ], "xref": [ "MSH:D014808", "SNOMEDCT_US:34713006", "UMLS:C0042870" ], "is_a": [ "HP:0100511" ], "is_obsolete": "", "replace_id": "" }, "HP:0100513": { "name": [ "low levels of vitamin e", "low level of vitamin e" ], "alt_id": [], "def": "A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.", "synonym": [ [ "alpha - tocopherol deficiency", "alpha - tocopherol deficiency" ], [ "vitamin e deficiency", "vitamin e deficiency" ] ], "xref": [ "MSH:D014811", "SNOMEDCT_US:54137008", "UMLS:C0042875" ], "is_a": [ "HP:0100514" ], "is_obsolete": "", "replace_id": "" }, "HP:0100514": { "name": [ "abnormality of vitamin e metabolism", "abnormality of vitamin e metabolism" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of vitamin e metabolism", "abnormality of vitamin e metabolism" ] ], "xref": [ "UMLS:C4022034" ], "is_a": [ "HP:0100508" ], "is_obsolete": "", "replace_id": "" }, "HP:0100515": { "name": [ "pollakisuria", "pollakisuria" ], "alt_id": [], "def": "Increased frequency of urination.", "synonym": [ [ "constant urination", "constant urination" ], [ "frequent urination", "frequent urination" ] ], "xref": [ "SNOMEDCT_US:162116003", "SNOMEDCT_US:300471006", "UMLS:C0042023" ], "is_a": [ "HP:0000009" ], "is_obsolete": "", "replace_id": "" }, "HP:0100516": { "name": [ "neoplasm of the ureter", "neoplasm of the ureter" ], "alt_id": [], "def": "The presence of a neoplasm of the ureter.", "synonym": [ [ "neoplasia of the ureters", "neoplasia of the ureter" ], [ "ureter , cancer of", "ureter , cancer of" ] ], "xref": [ "MSH:D014516", "NCIT:C3262", "SNOMEDCT_US:126882009", "SNOMEDCT_US:363458004", "UMLS:C0041955", "UMLS:C0153619" ], "is_a": [ "HP:0000069", "HP:0010786" ], "is_obsolete": "", "replace_id": "" }, "HP:0100517": { "name": [ "neoplasm of the urethra", "neoplasm of the urethra" ], "alt_id": [], "def": "The presence of a neoplasm of the urethra.", "synonym": [ [ "neoplasia of the urethra", "neoplasia of the urethra" ] ], "xref": [ "MSH:D014523", "NCIT:C2974", "SNOMEDCT_US:126883004", "UMLS:C0041971" ], "is_a": [ "HP:0000795", "HP:0010786" ], "is_obsolete": "", "replace_id": "" }, "HP:0100518": { "name": [ "dysuria", "dysuria" ], "alt_id": [], "def": "Painful or difficult urination.", "synonym": [ [ "dull burning sensation with urination", "dull burning sensation with urination" ], [ "painful or difficult urination", "painful or difficult urination" ] ], "xref": [ "MSH:D053159", "SNOMEDCT_US:49650001", "UMLS:C0013428" ], "is_a": [ "HP:0000009" ], "is_obsolete": "", "replace_id": "" }, "HP:0100519": { "name": [ "anuria", "anuria" ], "alt_id": [], "def": "Absence of urine, clinically classified as below 50ml/day.", "synonym": [ [ "absent urine output", "absent urine output" ] ], "xref": [ "MSH:D001002", "SNOMEDCT_US:2472002", "UMLS:C0003460" ], "is_a": [ "HP:0011037" ], "is_obsolete": "", "replace_id": "" }, "HP:0100520": { "name": [ "oliguria", "oliguria" ], "alt_id": [], "def": "Low output of urine, clinically classified as an output below 300-500ml/day.", "synonym": [], "xref": [ "MSH:D009846", "SNOMEDCT_US:718403007", "SNOMEDCT_US:83128009", "UMLS:C0028961" ], "is_a": [ "HP:0011037" ], "is_obsolete": "", "replace_id": "" }, "HP:0100521": { "name": [ "neoplasm of the thymus", "neoplasm of the thymus" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the thymus.", "synonym": [], "xref": [ "MSH:D013953", "NCIT:C3262", "SNOMEDCT_US:127231009", "UMLS:C3714644" ], "is_a": [ "HP:0000777", "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0100522": { "name": [ "thymoma", "thymoma" ], "alt_id": [], "def": "A tumor originating from the epithelial cells of the thymus.", "synonym": [], "xref": [ "MSH:D013945", "NCIT:C3411", "SNOMEDCT_US:128856005", "SNOMEDCT_US:444231005", "UMLS:C0040100" ], "is_a": [ "HP:0100521" ], "is_obsolete": "", "replace_id": "" }, "HP:0100523": { "name": [ "liver abscess", "liver abscess" ], "alt_id": [ "HP:0001400" ], "def": "The presence of an abscess of the liver.", "synonym": [ [ "hepatic abscess", "hepatic abscess" ], [ "liver abscess", "liver abscess" ] ], "xref": [ "MSH:D008100", "SNOMEDCT_US:27916005", "UMLS:C0023885" ], "is_a": [ "HP:0025615", "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0100524": { "name": [ "limb duplication", "limb duplication" ], "alt_id": [], "def": "Congenital duplication of all or part of a limb.", "synonym": [ [ "dimelia", "dimelia" ], [ "limb duplication", "limb duplication" ] ], "xref": [ "SNOMEDCT_US:34488005", "UMLS:C0265551" ], "is_a": [ "HP:0002813" ], "is_obsolete": "", "replace_id": "" }, "HP:0100525": { "name": [ "urachus fistula", "urachus fistula" ], "alt_id": [], "def": "Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus.", "synonym": [], "xref": [ "SNOMEDCT_US:398320008", "SNOMEDCT_US:50986000", "UMLS:C0345344" ], "is_a": [ "HP:0010478" ], "is_obsolete": "", "replace_id": "" }, "HP:0100526": { "name": [ "neoplasm of the lung", "neoplasm of the lung" ], "alt_id": [], "def": "Tumor of the lung.", "synonym": [ [ "lung cancer", "lung cancer" ], [ "lung tumor", "lung tumor" ], [ "lung tumour", "lung tumour" ] ], "xref": [ "MSH:D008175", "NCIT:C3262", "SNOMEDCT_US:126713003", "UMLS:C0024121" ], "is_a": [ "HP:0002088", "HP:0100606" ], "is_obsolete": "", "replace_id": "" }, "HP:0100527": { "name": [ "neoplasia of the pleura", "neoplasia of the pleura" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "NCIT:C3262", "UMLS:C4022033" ], "is_a": [ "HP:0002103", "HP:0100606" ], "is_obsolete": "", "replace_id": "" }, "HP:0100528": { "name": [ "pleuropulmonary blastoma", "pleuropulmonary blastoma" ], "alt_id": [], "def": "A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant.", "synonym": [], "xref": [ "MSH:C537516", "NCIT:C3732", "SNOMEDCT_US:128763002", "SNOMEDCT_US:707670009", "UMLS:C1266144" ], "is_a": [ "HP:0100527", "HP:0100552" ], "is_obsolete": "", "replace_id": "" }, "HP:0100529": { "name": [ "abnormal blood phosphate concentration", "abnormal blood phosphate concentration" ], "alt_id": [], "def": "An abnormality of phosphate homeostasis or concentration in the body.", "synonym": [ [ "abnormality of phosphate homeostasis", "abnormality of phosphate homeostasis" ] ], "xref": [ "UMLS:C4022032" ], "is_a": [ "HP:0003111" ], "is_obsolete": "", "replace_id": "" }, "HP:0100530": { "name": [ "abnormal calcium - phosphate regulating hormone level", "abnormal calcium - phosphate regulate hormone level" ], "alt_id": [], "def": "Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.", "synonym": [ [ "abnormal ca - phos regulating hormone level", "abnormal ca - phos regulate hormone level" ], [ "abnormal ca2+ po4 regulating hormone level", "abnormal ca2+ po4 regulate hormone level" ] ], "xref": [ "UMLS:C4022031" ], "is_a": [ "HP:0003117", "HP:0033331" ], "is_obsolete": "", "replace_id": "" }, "HP:0100531": { "name": [ "wind - swept deformity of the knees", "wind - swept deformity of the knee" ], "alt_id": [], "def": "The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.", "synonym": [ [ "wind - swept deformity of the knees", "wind - swept deformity of the knee" ] ], "xref": [ "UMLS:C4022030" ], "is_a": [ "HP:0002857", "HP:0002970" ], "is_obsolete": "", "replace_id": "" }, "HP:0100532": { "name": [ "scleritis", "scleritis" ], "alt_id": [], "def": "Inflammation of the sclera.", "synonym": [ [ "inflammation of the outer white part of the eye", "inflammation of the outer white part of the eye" ] ], "xref": [ "MSH:D015423", "SNOMEDCT_US:78370002", "UMLS:C0036416" ], "is_a": [ "HP:0000591", "HP:0100533" ], "is_obsolete": "", "replace_id": "" }, "HP:0100533": { "name": [ "inflammatory abnormality of the eye", "inflammatory abnormality of the eye" ], "alt_id": [ "HP:0007891" ], "def": "Inflammation of the eye, parts of the eye or the periorbital region.", "synonym": [ [ "inflammatory abnormality of the eye", "inflammatory abnormality of the eye" ], [ "ocular inflammation", "ocular inflammation" ] ], "xref": [ "UMLS:C4020969" ], "is_a": [ "HP:0012373", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0100534": { "name": [ "episcleritis", "episcleritis" ], "alt_id": [], "def": "Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.", "synonym": [ [ "inflammation of the thin layer on top of the white part of eye", "inflammation of the thin layer on top of the white part of eye" ] ], "xref": [ "MSH:D015423", "SNOMEDCT_US:815008", "UMLS:C0014583" ], "is_a": [ "HP:0000591", "HP:0100533" ], "is_obsolete": "", "replace_id": "" }, "HP:0100535": { "name": [ "tibiofibular diastasis", "tibiofibular diastasis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022029" ], "is_a": [ "HP:0002991", "HP:0002992" ], "is_obsolete": "", "replace_id": "" }, "HP:0100536": { "name": [ "abnormality of the fascia", "abnormality of the fascia" ], "alt_id": [], "def": "An abnormality of fascia.", "synonym": [], "xref": [ "UMLS:C4022028" ], "is_a": [ "HP:0003549" ], "is_obsolete": "", "replace_id": "" }, "HP:0100537": { "name": [ "fasciitis", "fasciitis" ], "alt_id": [], "def": "Inflammation of fascia, the tissue under the skin and over the muscle.", "synonym": [ [ "inflammation of the fascia", "inflammation of the fascia" ] ], "xref": [ "MSH:D005208", "SNOMEDCT_US:36948007", "UMLS:C0015645" ], "is_a": [ "HP:0012649", "HP:0100536" ], "is_obsolete": "", "replace_id": "" }, "HP:0100538": { "name": [ "abnormality of the supraorbital ridges", "abnormality of the supraorbital ridge" ], "alt_id": [], "def": "An anomaly of the supraorbital portion of the frontal bones.", "synonym": [ [ "abnormality of the brow of the face", "abnormality of the brow of the face" ], [ "deformity of the supraorbital margins", "deformity of the supraorbital margin" ], [ "deformity of the supraorbital ridges", "deformity of the supraorbital ridge" ], [ "malformation of the supraorbital margins", "malformation of the supraorbital margin" ], [ "malformation of the supraorbital ridges", "malformation of the supraorbital ridge" ] ], "xref": [ "UMLS:C4022027" ], "is_a": [ "HP:0000606" ], "is_obsolete": "", "replace_id": "" }, "HP:0100539": { "name": [ "periorbital edema", "periorbital edema" ], "alt_id": [], "def": "Edema affecting the region situated around the orbit of the eye.", "synonym": [ [ "periorbital cellulitis", "periorbital cellulitis" ], [ "periorbital oedema", "periorbital oedema" ] ], "xref": [ "SNOMEDCT_US:109245003", "SNOMEDCT_US:267041004", "SNOMEDCT_US:49563000", "UMLS:C0149754", "UMLS:C0151205", "UMLS:C0424810" ], "is_a": [ "HP:0000282", "HP:0000606" ], "is_obsolete": "", "replace_id": "" }, "HP:0100540": { "name": [ "palpebral edema", "palpebral edema" ], "alt_id": [ "HP:0000626" ], "def": "Edema in the region of the eyelids.", "synonym": [ [ "edema of the eyelids", "edema of the eyelid" ], [ "eyelid edema", "eyelid edema" ], [ "eyelid oedema", "eyelid oedema" ], [ "fullness of eyelids", "fullness of eyelid" ], [ "oedema of the eyelids", "oedema of the eyelid" ], [ "palpebral oedema", "palpebral oedema" ], [ "puffy eyelids", "puffy eyelid" ], [ "puffy lids", "puffy lid" ], [ "swelling of eyelids", "swell of eyelid" ] ], "xref": [ "SNOMEDCT_US:89091004", "UMLS:C0162285" ], "is_a": [ "HP:0000492", "HP:0100539" ], "is_obsolete": "", "replace_id": "" }, "HP:0100541": { "name": [ "femoral hernia", "femoral hernia" ], "alt_id": [], "def": "A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.", "synonym": [ [ "crural hernia", "crural hernia" ] ], "xref": [ "MEDDRA:10016434 \"Femoral hernia\"", "MSH:D006550", "SNOMEDCT_US:50063009", "UMLS:C0019288" ], "is_a": [ "HP:0004299" ], "is_obsolete": "", "replace_id": "" }, "HP:0100542": { "name": [ "abnormal localization of kidney", "abnormal localization of kidney" ], "alt_id": [], "def": "An abnormal site of the kidney.", "synonym": [ [ "abnormal localisation of kidneys", "abnormal localisation of kidney" ] ], "xref": [ "UMLS:C4020968" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0100543": { "name": [ "cognitive impairment", "cognitive impairment" ], "alt_id": [ "HP:0002128", "HP:0002129", "HP:0002302", "HP:0002337", "HP:0002441", "HP:0006972", "HP:0006998", "HP:0007211" ], "def": "Abnormal cognition with deficits in thinking, reasoning, or remembering.", "synonym": [ [ "abnormality of cognition", "abnormality of cognition" ], [ "cognitive abnormality", "cognitive abnormality" ], [ "cognitive defects", "cognitive defect" ], [ "cognitive deficits", "cognitive deficit" ], [ "cognitive impairment", "cognitive impairment" ], [ "intellectual impairment", "intellectual impairment" ] ], "xref": [ "MSH:D060825", "SNOMEDCT_US:386806002", "UMLS:C0338656", "UMLS:C0683322" ], "is_a": [ "HP:0011446" ], "is_obsolete": "", "replace_id": "" }, "HP:0100544": { "name": [ "neoplasm of the heart", "neoplasm of the heart" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the heart.", "synonym": [ [ "cardiac neoplasia", "cardiac neoplasia" ], [ "cardiac neoplasm", "cardiac neoplasm" ], [ "heart tumor", "heart tumor" ], [ "heart tumour", "heart tumour" ] ], "xref": [ "MSH:D006338", "NCIT:C3262", "SNOMEDCT_US:387842002", "UMLS:C0018809" ], "is_a": [ "HP:0001627", "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0100545": { "name": [ "arterial stenosis", "arterial stenosis" ], "alt_id": [], "def": "Narrowing or constriction of the inner surface (lumen) of an artery.", "synonym": [ [ "narrowing of an artery", "narrowing of an artery" ] ], "xref": [ "SNOMEDCT_US:68109007", "UMLS:C0038449" ], "is_a": [ "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:0100546": { "name": [ "carotid artery stenosis", "carotid artery stenosis" ], "alt_id": [], "def": "Narrowing of the carotid arteries.", "synonym": [ [ "carotid stenosis", "carotid stenosis" ], [ "narrowing of carotid artery", "narrowing of carotid artery" ] ], "xref": [ "MSH:D016893", "SNOMEDCT_US:64586002", "UMLS:C0007282" ], "is_a": [ "HP:0005344", "HP:0100545" ], "is_obsolete": "", "replace_id": "" }, "HP:0100547": { "name": [ "abnormality of forebrain morphology", "abnormality of forebrain morphology" ], "alt_id": [], "def": "An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.", "synonym": [ [ "abnormal shape of forebrain", "abnormal shape of forebrain" ], [ "abnormality of the forebrain", "abnormality of the forebrain" ] ], "xref": [ "UMLS:C4020967" ], "is_a": [ "HP:0012443" ], "is_obsolete": "", "replace_id": "" }, "HP:0100548": { "name": [ "exstrophy", "exstrophy" ], "alt_id": [], "def": "Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.", "synonym": [], "xref": [ "SNOMEDCT_US:110407002", "UMLS:C0015338" ], "is_a": [ "HP:0004298" ], "is_obsolete": "", "replace_id": "" }, "HP:0100550": { "name": [ "tendon rupture", "tendon rupture" ], "alt_id": [], "def": "Breakage (tear) of a tendon.", "synonym": [ [ "rupture of tendons", "rupture of tendon" ], [ "ruptured tendon", "rupture tendon" ], [ "tendon rupture", "tendon rupture" ], [ "tendon / muscle rupture", "tendon / muscle rupture" ] ], "xref": [ "SNOMEDCT_US:415749005", "UMLS:C0151937" ], "is_a": [ "HP:0100261" ], "is_obsolete": "", "replace_id": "" }, "HP:0100551": { "name": [ "neoplasm of the trachea", "neoplasm of the trachea" ], "alt_id": [ "HP:0012291" ], "def": "A neoplasm of the trachea.", "synonym": [ [ "tracheal neoplasm", "tracheal neoplasm" ] ], "xref": [ "MSH:D014134", "NCIT:C3262", "SNOMEDCT_US:126703006", "UMLS:C0040582" ], "is_a": [ "HP:0002778", "HP:0100552" ], "is_obsolete": "", "replace_id": "" }, "HP:0100552": { "name": [ "neoplasm of the tracheobronchial system", "neoplasm of the tracheobronchial system" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "NCIT:C3262", "UMLS:C4022026" ], "is_a": [ "HP:0005607", "HP:0100526" ], "is_obsolete": "", "replace_id": "" }, "HP:0100553": { "name": [ "hemihypertrophy of lower limb", "hemihypertrophy of low limb" ], "alt_id": [], "def": "Overgrowth of only one leg.", "synonym": [ [ "overgrowth of one leg", "overgrowth of one leg" ] ], "xref": [ "SNOMEDCT_US:205369009", "UMLS:C0431928" ], "is_a": [ "HP:0001528", "HP:0010496", "HP:0100559" ], "is_obsolete": "", "replace_id": "" }, "HP:0100554": { "name": [ "hemihypertrophy of upper limb", "hemihypertrophy of upper limb" ], "alt_id": [], "def": "Overgrowth of only one arm.", "synonym": [ [ "overgrowth of one arm", "overgrowth of one arm" ] ], "xref": [ "SNOMEDCT_US:253920006", "UMLS:C0431810" ], "is_a": [ "HP:0001528", "HP:0010484", "HP:0100560" ], "is_obsolete": "", "replace_id": "" }, "HP:0100555": { "name": [ "asymmetric growth", "asymmetric growth" ], "alt_id": [], "def": "A growth pattern that displays an abnormal difference between the left and the right side.", "synonym": [ [ "uneven or disproportionate growth of one body part compared to another", "uneven or disproportionate growth of one body part compare to another" ] ], "xref": [ "UMLS:C4022025" ], "is_a": [ "HP:0001507" ], "is_obsolete": "", "replace_id": "" }, "HP:0100556": { "name": [ "hemiatrophy", "hemiatrophy" ], "alt_id": [ "HP:0005091", "HP:0200051" ], "def": "Undergrowth of the limbs that affects only one side.", "synonym": [ [ "asymmetric limb shortening", "asymmetric limb shorten" ], [ "hemiatrophy of the body", "hemiatrophy of the body" ] ], "xref": [ "SNOMEDCT_US:34087007", "UMLS:C0333662" ], "is_a": [ "HP:0009826", "HP:0100555" ], "is_obsolete": "", "replace_id": "" }, "HP:0100557": { "name": [ "hemiatrophy of lower limb", "hemiatrophy of low limb" ], "alt_id": [], "def": "Unilateral atrophy (reduction in size) of a leg.", "synonym": [ [ "asymmetric lower limb shortening", "asymmetric low limb shorten" ] ], "xref": [ "SNOMEDCT_US:709411004", "UMLS:C0431934" ], "is_a": [ "HP:0100556", "HP:0100559" ], "is_obsolete": "", "replace_id": "" }, "HP:0100558": { "name": [ "hemiatrophy of upper limb", "hemiatrophy of upper limb" ], "alt_id": [ "HP:0200052" ], "def": "Unilateral atrophy (reduction in size) of an arm.", "synonym": [ [ "asymmetric upper limb shortening", "asymmetric upper limb shorten" ], [ "hemihypotrophy of upper limb", "hemihypotrophy of upper limb" ] ], "xref": [ "SNOMEDCT_US:253921005", "UMLS:C0431814" ], "is_a": [ "HP:0100556", "HP:0100560" ], "is_obsolete": "", "replace_id": "" }, "HP:0100559": { "name": [ "lower limb asymmetry", "low limb asymmetry" ], "alt_id": [], "def": "A difference in length or diameter between the left and right leg.", "synonym": [ [ "left and right leg differ in length or width", "left and right leg differ in length or width" ], [ "leg length discrepancy", "leg length discrepancy" ] ], "xref": [ "MSH:D007870", "SNOMEDCT_US:45939007", "UMLS:C0023221" ], "is_a": [ "HP:0002814", "HP:0100555" ], "is_obsolete": "", "replace_id": "" }, "HP:0100560": { "name": [ "upper limb asymmetry", "upper limb asymmetry" ], "alt_id": [], "def": "Difference in length or size between the right and left arm.", "synonym": [ [ "unequal size of arms", "unequal size of arm" ] ], "xref": [ "UMLS:C4022024" ], "is_a": [ "HP:0002817", "HP:0100555" ], "is_obsolete": "", "replace_id": "" }, "HP:0100561": { "name": [ "spinal cord lesion", "spinal cord lesion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C0241224" ], "is_a": [ "HP:0002143" ], "is_obsolete": "", "replace_id": "" }, "HP:0100562": { "name": [ "diplomyelia", "diplomyelia" ], "alt_id": [], "def": "Duplication of the spinal cord.", "synonym": [ [ "duplication of spinal cord", "duplication of spinal cord" ] ], "xref": [ "SNOMEDCT_US:360527003", "UMLS:C1260890" ], "is_a": [ "HP:0100561" ], "is_obsolete": "", "replace_id": "" }, "HP:0100563": { "name": [ "diastomatomyelia", "diastomatomyelia" ], "alt_id": [], "def": "Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum.", "synonym": [], "xref": [ "UMLS:C4022023" ], "is_a": [ "HP:0100561" ], "is_obsolete": "", "replace_id": "" }, "HP:0100564": { "name": [ "triplomyelia", "triplomyelia" ], "alt_id": [], "def": "Triplication of the spinal cord - extremely rare.", "synonym": [ [ "triplication of spinal cord", "triplication of spinal cord" ] ], "xref": [ "UMLS:C4022022" ], "is_a": [ "HP:0100561" ], "is_obsolete": "", "replace_id": "" }, "HP:0100565": { "name": [ "hydromyelia", "hydromyelia" ], "alt_id": [], "def": "Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.", "synonym": [], "xref": [ "SNOMEDCT_US:11197005", "SNOMEDCT_US:74740003", "UMLS:C0152444" ], "is_a": [ "HP:0100561" ], "is_obsolete": "", "replace_id": "" }, "HP:0100566": { "name": [ "amyelia", "amyelia" ], "alt_id": [], "def": "Congenital absence of the spinal cord.", "synonym": [ [ "absent spinal cord", "absent spinal cord" ] ], "xref": [ "SNOMEDCT_US:78784005", "UMLS:C0266510" ], "is_a": [ "HP:0100561" ], "is_obsolete": "", "replace_id": "" }, "HP:0100568": { "name": [ "neoplasm of the endocrine system", "neoplasm of the endocrine system" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the endocrine system.", "synonym": [ [ "endocrine neoplasia", "endocrine neoplasia" ] ], "xref": [ "MSH:D004701", "NCIT:C3262", "SNOMEDCT_US:387922007", "SNOMEDCT_US:387927001", "UMLS:C0014132" ], "is_a": [ "HP:0000818", "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0100569": { "name": [ "abnormally ossified vertebrae", "abnormally ossify vertebra" ], "alt_id": [], "def": "An abnormality of the formation and mineralization of one or more vertebrae.", "synonym": [ [ "abnormal bone maturation of vertebra", "abnormal bone maturation of vertebra" ], [ "abnormal vertebral ossification", "abnormal vertebral ossification" ], [ "abnormality of ossification / mineralisation of vertebrae", "abnormality of ossification / mineralisation of vertebra" ] ], "xref": [ "UMLS:C4020966" ], "is_a": [ "HP:0003336", "HP:0003468" ], "is_obsolete": "", "replace_id": "" }, "HP:0100570": { "name": [ "carcinoid tumor", "carcinoid tumor" ], "alt_id": [], "def": "A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.", "synonym": [ [ "carcinoid", "carcinoid" ], [ "carcinoid tumors", "carcinoid tumor" ], [ "carcinoid tumour", "carcinoid tumour" ], [ "carcinoid tumours", "carcinoid tumour" ] ], "xref": [ "MSH:D002276", "SNOMEDCT_US:189607006", "SNOMEDCT_US:443492008", "UMLS:C0007095" ], "is_a": [ "HP:0100634" ], "is_obsolete": "", "replace_id": "" }, "HP:0100571": { "name": [ "cardiac diverticulum", "cardiac diverticulum" ], "alt_id": [], "def": "A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular.", "synonym": [ [ "ventricular diverticulum", "ventricular diverticulum" ] ], "xref": [ "UMLS:C4020965" ], "is_a": [ "HP:0001713" ], "is_obsolete": "", "replace_id": "" }, "HP:0100572": { "name": [ "fibrous cardiac diverticulum", "fibrous cardiac diverticulum" ], "alt_id": [], "def": "A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly.", "synonym": [ [ "congenital ventricular aneurysm", "congenital ventricular aneurysm" ] ], "xref": [ "UMLS:C4020964" ], "is_a": [ "HP:0006698", "HP:0100571" ], "is_obsolete": "", "replace_id": "" }, "HP:0100573": { "name": [ "muscular cardiac diverticulum", "muscular cardiac diverticulum" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022021" ], "is_a": [ "HP:0100571" ], "is_obsolete": "", "replace_id": "" }, "HP:0100574": { "name": [ "biliary tract neoplasm", "biliary tract neoplasm" ], "alt_id": [ "HP:0030152" ], "def": "A tumor (abnormal growth of tissue) of the biliary system.", "synonym": [ [ "neoplasia of the biliary tract", "neoplasia of the biliary tract" ] ], "xref": [ "MSH:D001661", "NCIT:C3262", "SNOMEDCT_US:126853008", "UMLS:C0005426", "UMLS:C4020709" ], "is_a": [ "HP:0007378", "HP:0012440" ], "is_obsolete": "", "replace_id": "" }, "HP:0100575": { "name": [ "neoplasm of the gallbladder", "neoplasm of the gallbladder" ], "alt_id": [], "def": "The presence of a neoplasm of the gallbladder.", "synonym": [ [ "neoplasia of the gallbladder", "neoplasia of the gallbladder" ] ], "xref": [ "MSH:D005706", "NCIT:C3262", "SNOMEDCT_US:126854002", "UMLS:C0016978", "UMLS:C4020708" ], "is_a": [ "HP:0012437", "HP:0100574" ], "is_obsolete": "", "replace_id": "" }, "HP:0100576": { "name": [ "amaurosis fugax", "amaurosis fugax" ], "alt_id": [], "def": "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.", "synonym": [], "xref": [ "MSH:D020757", "SNOMEDCT_US:88032003", "UMLS:C0149793" ], "is_a": [ "HP:0000504" ], "is_obsolete": "", "replace_id": "" }, "HP:0100577": { "name": [ "urinary bladder inflammation", "urinary bladder inflammation" ], "alt_id": [], "def": "Inflammation of the urinary bladder.", "synonym": [ [ "cystitis of the urinary bladder", "cystitis of the urinary bladder" ], [ "urinary bladder inflammation", "urinary bladder inflammation" ] ], "xref": [ "MSH:D003556", "SNOMEDCT_US:38822007", "UMLS:C0010692" ], "is_a": [ "HP:0012649", "HP:0025487" ], "is_obsolete": "", "replace_id": "" }, "HP:0100578": { "name": [ "lipoatrophy", "lipoatrophy" ], "alt_id": [], "def": "Localized loss of fat tissue.", "synonym": [ [ "atrophy of fat", "atrophy of fat" ], [ "loss of fat tissue in localised area", "loss of fat tissue in localised area" ], [ "loss of fat tissue in localized area", "loss of fat tissue in localized area" ] ], "xref": [ "MEDDRA:10024604 \"Lipoatrophy\"", "SNOMEDCT_US:248315005", "UMLS:C1280433" ], "is_a": [ "HP:0009125" ], "is_obsolete": "", "replace_id": "" }, "HP:0100579": { "name": [ "mucosal telangiectasiae", "mucosal telangiectasiae" ], "alt_id": [], "def": "Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.", "synonym": [], "xref": [ "UMLS:C4022020" ], "is_a": [ "HP:0001009" ], "is_obsolete": "", "replace_id": "" }, "HP:0100580": { "name": [ "barrett esophagus", "barrett esophagus" ], "alt_id": [], "def": "An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system.", "synonym": [ [ "barret syndrome", "barret syndrome" ], [ "barrett oesophagus", "barrett oesophagus" ], [ "barrett 's esophagus", "barrett 's esophagus" ], [ "barrett 's oesophagus", "barrett 's oesophagus" ], [ "endobrachyesophagus", "endobrachyesophagus" ] ], "xref": [ "MSH:D001471", "SNOMEDCT_US:302914006", "UMLS:C0004763" ], "is_a": [ "HP:0100751" ], "is_obsolete": "", "replace_id": "" }, "HP:0100581": { "name": [ "dilatation of renal calices", "dilatation of renal calices" ], "alt_id": [], "def": "An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.", "synonym": [ [ "caliceal dilatation", "caliceal dilatation" ], [ "caliectasis", "caliectasis" ], [ "megacalicosis", "megacalicosis" ] ], "xref": [ "UMLS:C4022019" ], "is_a": [ "HP:0011130" ], "is_obsolete": "", "replace_id": "" }, "HP:0100582": { "name": [ "nasal polyposis", "nasal polyposis" ], "alt_id": [ "HP:0000462" ], "def": "Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.", "synonym": [ [ "nasal polyps", "nasal polyp" ], [ "polyposis nasi", "polyposis nasi" ], [ "polys of nose", "polys of nose" ] ], "xref": [ "MSH:D009298", "SNOMEDCT_US:52756005", "UMLS:C0027430" ], "is_a": [ "HP:0000433" ], "is_obsolete": "", "replace_id": "" }, "HP:0100583": { "name": [ "corneal perforation", "corneal perforation" ], "alt_id": [ "HP:0100793" ], "def": "A rupture of the cornea through which a portion of the iris protrudes.", "synonym": [ [ "iridocele", "iridocele" ] ], "xref": [ "MSH:D057112", "SNOMEDCT_US:74895004", "UMLS:C0339293", "UMLS:C0948060" ], "is_a": [ "HP:0000481" ], "is_obsolete": "", "replace_id": "" }, "HP:0100584": { "name": [ "endocarditis", "endocarditis" ], "alt_id": [], "def": "An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.", "synonym": [], "xref": [ "MSH:D004696", "SNOMEDCT_US:56819008", "UMLS:C0014118" ], "is_a": [ "HP:0004306", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0100585": { "name": [ "telangiectasia of the skin", "telangiectasia of the skin" ], "alt_id": [], "def": "Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.", "synonym": [ [ "teleangiectasia of the skin", "teleangiectasia of the skin" ] ], "xref": [ "UMLS:C4022018" ], "is_a": [ "HP:0001009" ], "is_obsolete": "", "replace_id": "" }, "HP:0100586": { "name": [ "sterile pyuria", "sterile pyuria" ], "alt_id": [], "def": "Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.", "synonym": [ [ "aseptic leukocyturia", "aseptic leukocyturia" ] ], "xref": [ "UMLS:C4022017" ], "is_a": [ "HP:0012085" ], "is_obsolete": "", "replace_id": "" }, "HP:0100587": { "name": [ "abnormal preputium morphology", "abnormal preputium morphology" ], "alt_id": [], "def": "An abnormality of the retractable fold of skin that covers the tip of the penis.", "synonym": [ [ "abnormality of the preputium", "abnormality of the preputium" ] ], "xref": [ "UMLS:C4022016" ], "is_a": [ "HP:0000036" ], "is_obsolete": "", "replace_id": "" }, "HP:0100588": { "name": [ "paraphimosis", "paraphimosis" ], "alt_id": [], "def": "The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis.", "synonym": [], "xref": [ "MSH:D010263", "SNOMEDCT_US:13758004", "UMLS:C0030483" ], "is_a": [ "HP:0100587" ], "is_obsolete": "", "replace_id": "" }, "HP:0100589": { "name": [ "urogenital fistula", "urogenital fistula" ], "alt_id": [], "def": "The presence of a fistula affecting the genitourinary system.", "synonym": [], "xref": [ "UMLS:C0853877" ], "is_a": [ "HP:0000119" ], "is_obsolete": "", "replace_id": "" }, "HP:0100590": { "name": [ "rectal fistula", "rectal fistula" ], "alt_id": [], "def": "The presence of a fistula affecting the rectum.", "synonym": [], "xref": [ "MSH:D012003", "SNOMEDCT_US:80736008", "UMLS:C0034884" ], "is_a": [ "HP:0002034", "HP:0100589", "HP:0100819" ], "is_obsolete": "", "replace_id": "" }, "HP:0100592": { "name": [ "peritoneal abscess", "peritoneal abscess" ], "alt_id": [], "def": "The presence of an abscess of the peritoneum.", "synonym": [], "xref": [ "SNOMEDCT_US:73962000", "UMLS:C0267756" ], "is_a": [ "HP:0002585", "HP:0025615" ], "is_obsolete": "", "replace_id": "" }, "HP:0100593": { "name": [ "calcification of cartilage", "calcification of cartilage" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022015" ], "is_a": [ "HP:0002763", "HP:0010766" ], "is_obsolete": "", "replace_id": "" }, "HP:0100594": { "name": [ "esophageal web", "esophageal web" ], "alt_id": [], "def": "Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare).", "synonym": [], "xref": [ "SNOMEDCT_US:19216006", "SNOMEDCT_US:22395006", "UMLS:C0267080" ], "is_a": [ "HP:0002031" ], "is_obsolete": "", "replace_id": "" }, "HP:0100595": { "name": [ "camptocormia", "camptocormia" ], "alt_id": [], "def": "An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders.", "synonym": [], "xref": [ "MSH:C537968", "SNOMEDCT_US:13534001", "UMLS:C0264162" ], "is_a": [ "HP:0010674" ], "is_obsolete": "", "replace_id": "" }, "HP:0100596": { "name": [ "absent nares", "absent naris" ], "alt_id": [ "HP:0100597" ], "def": "The nostrils (the paired channels of the nose) are not present.", "synonym": [ [ "abouphalia", "abouphalia" ], [ "aplasia of the nares", "aplasia of the naris" ], [ "aplasia / hypoplasia of the nares", "aplasia / hypoplasia of the naris" ], [ "missing nostrils", "miss nostril" ] ], "xref": [ "UMLS:C4020707", "UMLS:C4020963" ], "is_a": [ "HP:0005288" ], "is_obsolete": "", "replace_id": "" }, "HP:0100598": { "name": [ "pulmonary edema", "pulmonary edema" ], "alt_id": [], "def": "Fluid accumulation in the lungs.", "synonym": [ [ "excess fluid in lungs", "excess fluid in lung" ], [ "lung edema", "lung edema" ], [ "lung oedema", "lung oedema" ], [ "pulmonary oedema", "pulmonary oedema" ], [ "wet lung", "wet lung" ] ], "xref": [ "MSH:D011654", "SNOMEDCT_US:19242006", "UMLS:C0034063" ], "is_a": [ "HP:0000969", "HP:0002088" ], "is_obsolete": "", "replace_id": "" }, "HP:0100599": { "name": [ "bifid penis", "bifid penis" ], "alt_id": [], "def": "Two penile structures, separated from the tip to the base of the shaft.", "synonym": [ [ "diphallia", "diphallia" ], [ "penile duplication", "penile duplication" ] ], "xref": [ "SNOMEDCT_US:253851000", "UMLS:C0345322" ], "is_a": [ "HP:0000036" ], "is_obsolete": "", "replace_id": "" }, "HP:0100600": { "name": [ "penoscrotal transposition", "penoscrotal transposition" ], "alt_id": [], "def": "A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis.", "synonym": [ [ "prepenile scrotum", "prepenile scrotum" ] ], "xref": [ "MSH:C536650", "SNOMEDCT_US:312005008", "UMLS:C1868854" ], "is_a": [ "HP:0000036", "HP:0000045" ], "is_obsolete": "", "replace_id": "" }, "HP:0100601": { "name": [ "eclampsia", "eclampsia" ], "alt_id": [], "def": "An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders.", "synonym": [], "xref": [ "MSH:D004461", "SNOMEDCT_US:15938005", "UMLS:C0013537" ], "is_a": [ "HP:0100603" ], "is_obsolete": "", "replace_id": "" }, "HP:0100602": { "name": [ "preeclampsia", "preeclampsia" ], "alt_id": [], "def": "Pregnancy-induced hypertension in association with significant amounts of protein in the urine.", "synonym": [ [ "pre - eclampsia", "pre - eclampsia" ] ], "xref": [ "MSH:D011225", "SNOMEDCT_US:15394000", "SNOMEDCT_US:398254007", "UMLS:C0032914" ], "is_a": [ "HP:0100603" ], "is_obsolete": "", "replace_id": "" }, "HP:0100603": { "name": [ "toxemia of pregnancy", "toxemia of pregnancy" ], "alt_id": [], "def": "Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia.", "synonym": [ [ "hypertensive disorder of pregnancy", "hypertensive disorder of pregnancy" ], [ "toxaemia of pregnancy", "toxaemia of pregnancy" ] ], "xref": [ "MSH:D011225", "SNOMEDCT_US:15394000", "SNOMEDCT_US:398254007", "UMLS:C0032914" ], "is_a": [ "HP:0002686" ], "is_obsolete": "", "replace_id": "" }, "HP:0100604": { "name": [ "neoplasm of the lip", "neoplasm of the lip" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the lip.", "synonym": [ [ "lip tumor", "lip tumor" ], [ "lip tumour", "lip tumour" ], [ "neoplasia of the lip", "neoplasia of the lip" ], [ "tumor of the lip", "tumor of the lip" ], [ "tumour of the lip", "tumour of the lip" ] ], "xref": [ "MSH:D008048", "NCIT:C3262", "SNOMEDCT_US:126770008", "UMLS:C0023761", "UMLS:C4020706" ], "is_a": [ "HP:0000159", "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0100605": { "name": [ "neoplasm of the larynx", "neoplasm of the larynx" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D007822", "NCIT:C3262", "SNOMEDCT_US:126692004", "UMLS:C0023055" ], "is_a": [ "HP:0001600", "HP:0100606" ], "is_obsolete": "", "replace_id": "" }, "HP:0100606": { "name": [ "neoplasm of the respiratory system", "neoplasm of the respiratory system" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the respiratory system.", "synonym": [ [ "respiratory system tumor", "respiratory system tumor" ], [ "respiratory system tumour", "respiratory system tumour" ] ], "xref": [ "MSH:D012142", "NCIT:C3262", "SNOMEDCT_US:126667002", "SNOMEDCT_US:448708002", "UMLS:C0035244" ], "is_a": [ "HP:0002086", "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0100607": { "name": [ "dysmenorrhea", "dysmenorrhea" ], "alt_id": [], "def": "Pain during menstruation that interferes with daily activities.", "synonym": [ [ "painful menstruation", "painful menstruation" ] ], "xref": [ "MSH:D004412", "SNOMEDCT_US:266599000", "SNOMEDCT_US:289900009", "SNOMEDCT_US:431416001", "UMLS:C0013390" ], "is_a": [ "HP:0000858" ], "is_obsolete": "", "replace_id": "" }, "HP:0100608": { "name": [ "metrorrhagia", "metrorrhagia" ], "alt_id": [], "def": "Bleeding at irregular intervals.", "synonym": [ [ "abnormal uterus bleeding", "abnormal uterus bleeding" ], [ "intermenstrual bleeding", "intermenstrual bleeding" ], [ "menstrual spotting", "menstrual spotting" ] ], "xref": [ "MSH:D008796", "SNOMEDCT_US:19155002", "SNOMEDCT_US:237130006", "SNOMEDCT_US:64996003", "UMLS:C0025874" ], "is_a": [ "HP:0000140" ], "is_obsolete": "", "replace_id": "" }, "HP:0100609": { "name": [ "obsolete hypermenorrhea", "obsolete hypermenorrhea" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000132" }, "HP:0100610": { "name": [ "maternal hyperphenylalaninemia", "maternal hyperphenylalaninemia" ], "alt_id": [], "def": "A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy.", "synonym": [ [ "high blood phenylalanine level in mother", "high blood phenylalanine level in mother" ] ], "xref": [ "UMLS:C4022014" ], "is_a": [ "HP:0002686", "HP:0010893" ], "is_obsolete": "", "replace_id": "" }, "HP:0100611": { "name": [ "multiple glomerular cysts", "multiple glomerular cyst" ], "alt_id": [], "def": "The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.", "synonym": [ [ "glomerulocystic kidney disease", "glomerulocystic kidney disease" ] ], "xref": [ "UMLS:C4020705", "UMLS:C4022013" ], "is_a": [ "HP:0000095" ], "is_obsolete": "", "replace_id": "" }, "HP:0100612": { "name": [ "odontogenic neoplasm", "odontogenic neoplasm" ], "alt_id": [], "def": "Neoplasm involving odontogenic cells, an odontogenic tumor.", "synonym": [ [ "odontogenic tumor", "odontogenic tumor" ], [ "odontogenic tumour", "odontogenic tumour" ] ], "xref": [ "MSH:D009808", "NCIT:C3286", "SNOMEDCT_US:127578009", "SNOMEDCT_US:3833004", "UMLS:C0028880" ], "is_a": [ "HP:0000164", "HP:0100649" ], "is_obsolete": "", "replace_id": "" }, "HP:0100613": { "name": [ "death in early adulthood", "death in early adulthood" ], "alt_id": [], "def": "Death between the age of 16 and 40 years.", "synonym": [ [ "death in early adulthood", "death in early adulthood" ] ], "xref": [ "UMLS:C4022012" ], "is_a": [ "HP:0033763" ], "is_obsolete": "", "replace_id": "" }, "HP:0100614": { "name": [ "myositis", "myositis" ], "alt_id": [], "def": "A general term for inflammation of the muscles without respect to the underlying cause.", "synonym": [ [ "muscle inflammation", "muscle inflammation" ] ], "xref": [ "MSH:D009220", "SNOMEDCT_US:128496001", "SNOMEDCT_US:26889001", "UMLS:C0027121" ], "is_a": [ "HP:0011805", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0100615": { "name": [ "ovarian neoplasm", "ovarian neoplasm" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the ovary.", "synonym": [ [ "neoplasm of the ovaries", "neoplasm of the ovary" ], [ "neoplasm of the ovary", "neoplasm of the ovary" ], [ "ovarian cancer", "ovarian cancer" ], [ "ovarian neoplasia", "ovarian neoplasia" ], [ "ovarian tumor", "ovarian tumor" ], [ "ovarian tumour", "ovarian tumour" ] ], "xref": [ "MSH:D010051", "NCIT:C3262", "SNOMEDCT_US:123843001", "UMLS:C0919267" ], "is_a": [ "HP:0000137", "HP:0010785" ], "is_obsolete": "", "replace_id": "" }, "HP:0100616": { "name": [ "testicular teratoma", "testicular teratoma" ], "alt_id": [], "def": "The presence of a teratoma of the testis.", "synonym": [], "xref": [ "MSH:C562472", "NCIT:C3403", "UMLS:C0238451" ], "is_a": [ "HP:0009792", "HP:0010788" ], "is_obsolete": "", "replace_id": "" }, "HP:0100617": { "name": [ "testicular seminoma", "testicular seminoma" ], "alt_id": [], "def": "The presence of a seminoma, an undifferentiated germ cell tumor of the testis.", "synonym": [], "xref": [ "MSH:D018239", "NCIT:C9309", "SNOMEDCT_US:255107005", "SNOMEDCT_US:36741007", "SNOMEDCT_US:443675005", "UMLS:C0036631" ], "is_a": [ "HP:0010788", "HP:0100620" ], "is_obsolete": "", "replace_id": "" }, "HP:0100618": { "name": [ "leydig cell neoplasia", "leydig cell neoplasia" ], "alt_id": [], "def": "The presence of a neoplasm of the testis with origin in a Leydig cell.", "synonym": [], "xref": [ "NCIT:C3188", "UMLS:C4022011" ], "is_a": [ "HP:0010788", "HP:0010789" ], "is_obsolete": "", "replace_id": "" }, "HP:0100619": { "name": [ "sertoli cell neoplasm", "sertoli cell neoplasm" ], "alt_id": [], "def": "The presence of a neoplasm of the testis with origin in a Sertoli cell.", "synonym": [ [ "sertoli cell neoplasia", "sertoli cell neoplasia" ] ], "xref": [ "NCIT:C39976", "UMLS:C4020704" ], "is_a": [ "HP:0010788" ], "is_obsolete": "", "replace_id": "" }, "HP:0100620": { "name": [ "germinoma", "germinoma" ], "alt_id": [], "def": "A type of undifferentiated germ cell tumor that may be benign or malignant.", "synonym": [], "xref": [ "MSH:D018237", "SNOMEDCT_US:28307001", "UMLS:C0206660" ], "is_a": [ "HP:0100728" ], "is_obsolete": "", "replace_id": "" }, "HP:0100621": { "name": [ "dysgerminoma", "dysgerminoma" ], "alt_id": [], "def": "The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary.", "synonym": [], "xref": [ "MSH:D004407", "NCIT:C2996", "SNOMEDCT_US:60718004", "UMLS:C0013377" ], "is_a": [ "HP:0100615", "HP:0100620" ], "is_obsolete": "", "replace_id": "" }, "HP:0100622": { "name": [ "maternal seizure", "maternal seizure" ], "alt_id": [], "def": "A seizure during pregnancy.", "synonym": [ [ "maternal seizures", "maternal seizure" ] ], "xref": [ "UMLS:C4022010" ], "is_a": [ "HP:0001250", "HP:0002686" ], "is_obsolete": "", "replace_id": "" }, "HP:0100623": { "name": [ "abnormality of corpus cavernosum", "abnormality of corpus cavernosum" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022009" ], "is_a": [ "HP:0000036" ], "is_obsolete": "", "replace_id": "" }, "HP:0100624": { "name": [ "corpus cavernosum sclerosis", "corpus cavernosum sclerosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022008" ], "is_a": [ "HP:0100623" ], "is_obsolete": "", "replace_id": "" }, "HP:0100625": { "name": [ "enlarged thorax", "enlarge thorax" ], "alt_id": [], "def": "", "synonym": [ [ "wide rib cage", "wide rib cage" ], [ "wide thorax", "wide thorax" ] ], "xref": [ "UMLS:C4020962" ], "is_a": [ "HP:0001547" ], "is_obsolete": "", "replace_id": "" }, "HP:0100626": { "name": [ "chronic hepatic failure", "chronic hepatic failure" ], "alt_id": [], "def": "", "synonym": [ [ "chronic liver failure", "chronic liver failure" ] ], "xref": [ "MSH:D058625", "SNOMEDCT_US:235886005", "UMLS:C2936476" ], "is_a": [ "HP:0001399" ], "is_obsolete": "", "replace_id": "" }, "HP:0100627": { "name": [ "displacement of the urethral meatus", "displacement of the urethral meatus" ], "alt_id": [], "def": "A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).", "synonym": [ [ "displacement of the external urethral orifice", "displacement of the external urethral orifice" ], [ "displacement of the male external urethral orifice", "displacement of the male external urethral orifice" ] ], "xref": [ "UMLS:C4020961" ], "is_a": [ "HP:0000795", "HP:0032076" ], "is_obsolete": "", "replace_id": "" }, "HP:0100628": { "name": [ "esophageal diverticulum", "esophageal diverticulum" ], "alt_id": [], "def": "The presence of a diverticulum of the esophagus.", "synonym": [ [ "esophageal pouch", "esophageal pouch" ] ], "xref": [ "MSH:D004936", "SNOMEDCT_US:204667006", "SNOMEDCT_US:414133009", "UMLS:C0014854" ], "is_a": [ "HP:0002031" ], "is_obsolete": "", "replace_id": "" }, "HP:0100629": { "name": [ "midline facial cleft", "midline facial cleft" ], "alt_id": [], "def": "A congenital malformation with a cleft (gap or opening) in the midline of the face.", "synonym": [ [ "midline facial cleft", "midline facial cleft" ] ], "xref": [ "UMLS:C4022007" ], "is_a": [ "HP:0002006" ], "is_obsolete": "", "replace_id": "" }, "HP:0100630": { "name": [ "neoplasia of the nasopharynx", "neoplasia of the nasopharynx" ], "alt_id": [], "def": "", "synonym": [ [ "nasopharyngeal neoplasm", "nasopharyngeal neoplasm" ], [ "neoplasm of the nasopharynx", "neoplasm of the nasopharynx" ], [ "tumor of the nasopharynx", "tumor of the nasopharynx" ], [ "tumour of the nasopharynx", "tumour of the nasopharynx" ] ], "xref": [ "MSH:D009303", "NCIT:C3262", "SNOMEDCT_US:126680004", "UMLS:C0027439" ], "is_a": [ "HP:0001739", "HP:0100606" ], "is_obsolete": "", "replace_id": "" }, "HP:0100631": { "name": [ "neoplasm of the adrenal gland", "neoplasm of the adrenal gland" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the adrenal gland.", "synonym": [ [ "adrenal neoplasia", "adrenal neoplasia" ] ], "xref": [ "MSH:D000310", "NCIT:C3262", "SNOMEDCT_US:127021009", "UMLS:C0001624" ], "is_a": [ "HP:0011732", "HP:0100568" ], "is_obsolete": "", "replace_id": "" }, "HP:0100632": { "name": [ "pulmonary sequestration", "pulmonary sequestration" ], "alt_id": [], "def": "The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration).", "synonym": [ [ "cystic lung lesion", "cystic lung lesion" ] ], "xref": [ "MSH:D001998", "SNOMEDCT_US:18620009", "UMLS:C0006288", "UMLS:C4020703" ], "is_a": [ "HP:4000059" ], "is_obsolete": "", "replace_id": "" }, "HP:0100633": { "name": [ "esophagitis", "esophagitis" ], "alt_id": [], "def": "Inflammation of the esophagus.", "synonym": [ [ "inflammation of the esophagus", "inflammation of the esophagus" ], [ "inflammation of the oesophagus", "inflammation of the oesophagus" ], [ "oesophagitis", "oesophagitis" ] ], "xref": [ "MEDDRA:10030216 \"Oesophagitis\"", "MSH:D004941", "SNOMEDCT_US:16761005", "UMLS:C0014868" ], "is_a": [ "HP:0002031", "HP:0004386" ], "is_obsolete": "", "replace_id": "" }, "HP:0100634": { "name": [ "neuroendocrine neoplasm", "neuroendocrine neoplasm" ], "alt_id": [], "def": "A tumor that originates from a neuroendocrine cell.", "synonym": [ [ "neuroendocrine neoplasia", "neuroendocrine neoplasia" ] ], "xref": [ "MSH:D018358", "SNOMEDCT_US:128928004", "SNOMEDCT_US:255046005", "UMLS:C0206754" ], "is_a": [ "HP:0100007", "HP:0100568" ], "is_obsolete": "", "replace_id": "" }, "HP:0100635": { "name": [ "carotid paraganglioma", "carotid paraganglioma" ], "alt_id": [], "def": "A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.", "synonym": [], "xref": [ "UMLS:C4022005" ], "is_a": [ "HP:0002864", "HP:0005344" ], "is_obsolete": "", "replace_id": "" }, "HP:0100636": { "name": [ "pulmonary paraglioma", "pulmonary paraglioma" ], "alt_id": [], "def": "A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells.", "synonym": [], "xref": [ "UMLS:C4022004" ], "is_a": [ "HP:0002668", "HP:0100526" ], "is_obsolete": "", "replace_id": "" }, "HP:0100637": { "name": [ "obsolete neoplasia of the nose", "obsolete neoplasia of the nose" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0012720" }, "HP:0100638": { "name": [ "neoplasm of the pharynx", "neoplasm of the pharynx" ], "alt_id": [ "HP:0030073" ], "def": "A neoplasm originating in the pharynx.", "synonym": [ [ "neoplasia of the pharynx", "neoplasia of the pharynx" ], [ "pharyngeal neoplasm", "pharyngeal neoplasm" ], [ "tumor of the pharynx", "tumor of the pharynx" ], [ "tumour of the pharynx", "tumour of the pharynx" ] ], "xref": [ "MSH:D010610", "NCIT:C3262", "SNOMEDCT_US:126685009", "UMLS:C0031347" ], "is_a": [ "HP:0100630" ], "is_obsolete": "", "replace_id": "" }, "HP:0100639": { "name": [ "erectile dysfunction", "erectile dysfunction" ], "alt_id": [], "def": "A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.", "synonym": [ [ "abnormal erection", "abnormal erection" ], [ "erectile abnormalities", "erectile abnormality" ] ], "xref": [], "is_a": [ "HP:0040307" ], "is_obsolete": "", "replace_id": "" }, "HP:0100640": { "name": [ "laryngeal cyst", "laryngeal cyst" ], "alt_id": [], "def": "Presence of a cyst (sac-like structure) located in the larynx.", "synonym": [], "xref": [ "SNOMEDCT_US:195867000", "UMLS:C0339880" ], "is_a": [ "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:0100641": { "name": [ "neoplasm of the adrenal cortex", "neoplasm of the adrenal cortex" ], "alt_id": [], "def": "The presence of a neoplasm of the adrenal cortex.", "synonym": [ [ "cortical adrenal neoplasia", "cortical adrenal neoplasia" ] ], "xref": [ "MSH:D000306", "NCIT:C3262", "SNOMEDCT_US:127022002", "SNOMEDCT_US:18365006", "UMLS:C0001618" ], "is_a": [ "HP:0100631" ], "is_obsolete": "", "replace_id": "" }, "HP:0100642": { "name": [ "neoplasm of the adrenal medulla", "neoplasm of the adrenal medulla" ], "alt_id": [], "def": "The presence of a neoplasm of the adrenal medulla.", "synonym": [ [ "medullar adrenal neoplasia", "medullar adrenal neoplasia" ] ], "xref": [ "NCIT:C3262", "SNOMEDCT_US:127023007", "UMLS:C0596046" ], "is_a": [ "HP:0100631" ], "is_obsolete": "", "replace_id": "" }, "HP:0100643": { "name": [ "abnormality of nail color", "abnormality of nail color" ], "alt_id": [], "def": "An anomaly of the color of the nail.", "synonym": [ [ "abnormality of nail color", "abnormality of nail color" ], [ "abnormality of nail colour", "abnormality of nail colour" ], [ "nail dyschromia", "nail dyschromia" ] ], "xref": [ "UMLS:C4020960" ], "is_a": [ "HP:0001597" ], "is_obsolete": "", "replace_id": "" }, "HP:0100644": { "name": [ "melanonychia", "melanonychia" ], "alt_id": [], "def": "Brown or black discoloration of the nails.", "synonym": [], "xref": [ "MEDDRA:10058330 \"Melanonychia\"", "SNOMEDCT_US:402633003", "UMLS:C1142305" ], "is_a": [ "HP:0100643" ], "is_obsolete": "", "replace_id": "" }, "HP:0100645": { "name": [ "cystocele", "cystocele" ], "alt_id": [], "def": "Anterior vaginal wall prolapse with bulging of the bladder into the vagina.", "synonym": [ [ "bladder hernia", "bladder hernia" ], [ "bladder prolapse", "bladder prolapse" ], [ "dropped bladder", "drop bladder" ], [ "prolapsed bladder", "prolapse bladder" ] ], "xref": [ "ICD-9:618.00", "SNOMEDCT_US:252005008", "UMLS:C1394494" ], "is_a": [ "HP:0025487", "HP:0031607", "HP:0100672" ], "is_obsolete": "", "replace_id": "" }, "HP:0100646": { "name": [ "thyroiditis", "thyroiditis" ], "alt_id": [], "def": "Inflammation of the thyroid gland.", "synonym": [ [ "thyroid gland inflammation", "thyroid gland inflammation" ] ], "xref": [ "MSH:D013966", "SNOMEDCT_US:82119001", "UMLS:C0040147" ], "is_a": [ "HP:0011772", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0100647": { "name": [ "graves disease", "graf disease" ], "alt_id": [], "def": "An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients.", "synonym": [ [ "morbus basedow", "morbus basedow" ] ], "xref": [ "MSH:D006111", "SNOMEDCT_US:353295004", "SNOMEDCT_US:55807009", "UMLS:C0018213" ], "is_a": [ "HP:0011784" ], "is_obsolete": "", "replace_id": "" }, "HP:0100648": { "name": [ "neoplasm of the tongue", "neoplasm of the tongue" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the tongue.", "synonym": [], "xref": [ "MSH:D014062", "NCIT:C3262", "SNOMEDCT_US:126778001", "UMLS:C0040411" ], "is_a": [ "HP:0000157", "HP:0100649" ], "is_obsolete": "", "replace_id": "" }, "HP:0100649": { "name": [ "neoplasm of the oral cavity", "neoplasm of the oral cavity" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the oral cavity.", "synonym": [ [ "lesion of oral cavity", "lesion of oral cavity" ], [ "tumor of oral cavity", "tumor of oral cavity" ], [ "tumour of oral cavity", "tumour of oral cavity" ] ], "xref": [ "MSH:D009062", "NCIT:C3262", "SNOMEDCT_US:1071000119107", "SNOMEDCT_US:126797001", "SNOMEDCT_US:235075007", "UMLS:C0026640", "UMLS:C0149744", "UMLS:C4280289" ], "is_a": [ "HP:0000163", "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0100650": { "name": [ "vaginal neoplasm", "vaginal neoplasm" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the vagina.", "synonym": [ [ "vaginal neoplasia", "vaginal neoplasia" ], [ "vaginal tumor", "vaginal tumor" ], [ "vaginal tumour", "vaginal tumour" ] ], "xref": [ "MSH:D014625", "NCIT:C3262", "SNOMEDCT_US:126921000", "UMLS:C0042258", "UMLS:C0750081" ], "is_a": [ "HP:0000142", "HP:0033020" ], "is_obsolete": "", "replace_id": "" }, "HP:0100651": { "name": [ "type i diabetes mellitus", "type i diabetes mellitus" ], "alt_id": [], "def": "A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.", "synonym": [ [ "diabetes mellitus type i", "diabetes mellitus type i" ], [ "insulin - dependent diabetes mellitus", "insulin - dependent diabetes mellitus" ], [ "juvenile diabetes mellitus", "juvenile diabetes mellitus" ], [ "type 1 diabetes", "type 1 diabetes" ], [ "type i diabetes", "type i diabetes" ] ], "xref": [ "MSH:D003922", "SNOMEDCT_US:46635009", "UMLS:C0011854" ], "is_a": [ "HP:0000819" ], "is_obsolete": "", "replace_id": "" }, "HP:0100653": { "name": [ "optic neuritis", "optic neuritis" ], "alt_id": [], "def": "Inflammation of the optic nerve.", "synonym": [], "xref": [ "MSH:D009902", "SNOMEDCT_US:66760008", "UMLS:C0029134" ], "is_a": [ "HP:0000587", "HP:0033429" ], "is_obsolete": "", "replace_id": "" }, "HP:0100654": { "name": [ "retrobulbar optic neuritis", "retrobulbar optic neuritis" ], "alt_id": [], "def": "Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.", "synonym": [ [ "retrobulbar neuritis", "retrobulbar neuritis" ] ], "xref": [ "MSH:D009902", "SNOMEDCT_US:230507009", "UMLS:C0085582" ], "is_a": [ "HP:0100653" ], "is_obsolete": "", "replace_id": "" }, "HP:0100656": { "name": [ "thoracoabdominal wall defect", "thoracoabdominal wall defect" ], "alt_id": [], "def": "Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development.", "synonym": [ [ "thoracoabdominal schisis", "thoracoabdominal schisis" ] ], "xref": [ "UMLS:C4022002" ], "is_a": [ "HP:0000765", "HP:0010866" ], "is_obsolete": "", "replace_id": "" }, "HP:0100657": { "name": [ "thoracoabdominal eventration", "thoracoabdominal eventration" ], "alt_id": [], "def": "Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls.", "synonym": [ [ "celosomia", "celosomia" ], [ "kelosomia", "kelosomia" ] ], "xref": [ "SNOMEDCT_US:44518003", "UMLS:C0266682" ], "is_a": [ "HP:0100656" ], "is_obsolete": "", "replace_id": "" }, "HP:0100658": { "name": [ "cellulitis", "cellulitis" ], "alt_id": [ "HP:0003553" ], "def": "A bacterial infection and inflammation of the skin und subcutaneous tissues.", "synonym": [ [ "bacterial infection of skin", "bacterial infection of skin" ], [ "skin infection", "skin infection" ], [ "skin infections", "skin infection" ] ], "xref": [ "MSH:D002481", "MSH:D017192", "SNOMEDCT_US:128045006", "SNOMEDCT_US:128936008", "SNOMEDCT_US:385627004", "UMLS:C0007642", "UMLS:C0162627" ], "is_a": [ "HP:0003549" ], "is_obsolete": "", "replace_id": "" }, "HP:0100659": { "name": [ "abnormal cerebral vascular morphology", "abnormal cerebral vascular morphology" ], "alt_id": [], "def": "An anomaly of the cerebral blood vessels.", "synonym": [ [ "abnormality of the cerebral blood vessels", "abnormality of the cerebral blood vessel" ], [ "abnormality of the cerebral vasculature", "abnormality of the cerebral vasculature" ] ], "xref": [ "UMLS:C4022001" ], "is_a": [ "HP:0002597", "HP:0012443" ], "is_obsolete": "", "replace_id": "" }, "HP:0100660": { "name": [ "dyskinesia", "dyskinesia" ], "alt_id": [], "def": "A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.", "synonym": [ [ "disorder of involuntary muscle movements", "disorder of involuntary muscle movement" ], [ "dyskinesias", "dyskinesia" ], [ "dyskinesis", "dyskinesis" ] ], "xref": [ "MSH:D020820", "SNOMEDCT_US:9748009", "UMLS:C0013384" ], "is_a": [ "HP:0100022" ], "is_obsolete": "", "replace_id": "" }, "HP:0100661": { "name": [ "trigeminal neuralgia", "trigeminal neuralgia" ], "alt_id": [], "def": "A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected.", "synonym": [ [ "tic douloureux", "tic douloureux" ] ], "xref": [ "MSH:D014277", "SNOMEDCT_US:31681005", "UMLS:C0040997" ], "is_a": [ "HP:0031911", "HP:0033345" ], "is_obsolete": "", "replace_id": "" }, "HP:0100662": { "name": [ "chondritis", "chondritis" ], "alt_id": [], "def": "Inflammation of cartilage.", "synonym": [ [ "cartilage inflammation", "cartilage inflammation" ] ], "xref": [ "SNOMEDCT_US:46176001", "UMLS:C0008439" ], "is_a": [ "HP:0002763", "HP:0012649" ], "is_obsolete": "", "replace_id": "" }, "HP:0100663": { "name": [ "synotia", "synotia" ], "alt_id": [], "def": "A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw.", "synonym": [], "xref": [ "SNOMEDCT_US:77471004", "UMLS:C0266677" ], "is_a": [ "HP:0000357" ], "is_obsolete": "", "replace_id": "" }, "HP:0100665": { "name": [ "angioedema", "angioedema" ], "alt_id": [ "HP:0100666" ], "def": "Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.", "synonym": [ [ "angioneurotic oedema", "angioneurotic oedema" ], [ "angiooedema", "angiooedema" ], [ "quincke edema", "quincke edema" ], [ "quincke oedema", "quincke oedema" ] ], "xref": [ "MSH:D000799", "SNOMEDCT_US:400075008", "SNOMEDCT_US:41291007", "UMLS:C0002994" ], "is_a": [ "HP:0000969", "HP:0011276" ], "is_obsolete": "", "replace_id": "" }, "HP:0100668": { "name": [ "intestinal duplication", "intestinal duplication" ], "alt_id": [], "def": "A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine.", "synonym": [ [ "bowel duplication", "bowel duplication" ], [ "gut duplication", "gut duplication" ] ], "xref": [ "SNOMEDCT_US:3845008", "UMLS:C0266166", "UMLS:C4020702" ], "is_a": [ "HP:0002242", "HP:0011140" ], "is_obsolete": "", "replace_id": "" }, "HP:0100669": { "name": [ "abnormal pigmentation of the oral mucosa", "abnormal pigmentation of the oral mucosa" ], "alt_id": [], "def": "An abnormality of the pigmentation of the mucosa of the mouth.", "synonym": [ [ "abnormal color of the oral mucosa", "abnormal color of the oral mucosa" ], [ "abnormal colour of the oral mucosa", "abnormal colour of the oral mucosa" ], [ "abnormal pigmentation of oral cavity", "abnormal pigmentation of oral cavity" ], [ "abnormal pigmentation of oral mucous membrane", "abnormal pigmentation of oral mucous membrane" ], [ "abnormal pigmentation of the oral mucosa / gingivae", "abnormal pigmentation of the oral mucosa / gingiva" ] ], "xref": [ "UMLS:C4020959" ], "is_a": [ "HP:0011830" ], "is_obsolete": "", "replace_id": "" }, "HP:0100670": { "name": [ "coarse metaphyseal trabecularization", "coarse metaphyseal trabecularization" ], "alt_id": [], "def": "Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms.", "synonym": [ [ "coarse trabeculation at metaphyses", "coarse trabeculation at metaphyses" ], [ "rough bone trabeculation", "rough bone trabeculation" ], [ "rough trabeculation of bone", "rough trabeculation of bone" ] ], "xref": [ "UMLS:C4020958" ], "is_a": [ "HP:0005089", "HP:0100671" ], "is_obsolete": "", "replace_id": "" }, "HP:0100671": { "name": [ "abnormal trabecular bone morphology", "abnormal trabecular bone morphology" ], "alt_id": [], "def": "Abnormal structure or form of trabecular bone.", "synonym": [ [ "abnormal shape of spongy bone", "abnormal shape of spongy bone" ], [ "abnormality of bone trabeculation", "abnormality of bone trabeculation" ] ], "xref": [ "UMLS:C4020957" ], "is_a": [ "HP:0003330" ], "is_obsolete": "", "replace_id": "" }, "HP:0100672": { "name": [ "vaginal hernia", "vaginal hernia" ], "alt_id": [], "def": "The presence of a hernia of the vagina.", "synonym": [], "xref": [ "SNOMEDCT_US:397786004", "UMLS:C1442998" ], "is_a": [ "HP:0000142", "HP:0100823" ], "is_obsolete": "", "replace_id": "" }, "HP:0100673": { "name": [ "vaginal hydrocele", "vaginal hydrocele" ], "alt_id": [], "def": "A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable.", "synonym": [], "xref": [ "MSH:D006848", "SNOMEDCT_US:26614003", "SNOMEDCT_US:386152007", "SNOMEDCT_US:55434001", "UMLS:C1720771" ], "is_a": [ "HP:0000034" ], "is_obsolete": "", "replace_id": "" }, "HP:0100674": { "name": [ "vaginal hematocele", "vaginal hematocele" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1456401" ], "is_a": [ "HP:0000045" ], "is_obsolete": "", "replace_id": "" }, "HP:0100675": { "name": [ "vaginal pyocele", "vaginal pyocele" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4022000" ], "is_a": [ "HP:0000045" ], "is_obsolete": "", "replace_id": "" }, "HP:0100676": { "name": [ "vaginal lymphocele", "vaginal lymphocele" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021999" ], "is_a": [ "HP:0000045" ], "is_obsolete": "", "replace_id": "" }, "HP:0100677": { "name": [ "vulval varicose vein", "vulval varicose vein" ], "alt_id": [], "def": "Varicosity of veins in the vulval region.", "synonym": [], "xref": [ "SNOMEDCT_US:48868008", "UMLS:C0155796" ], "is_a": [ "HP:0000055", "HP:0002619" ], "is_obsolete": "", "replace_id": "" }, "HP:0100678": { "name": [ "premature skin wrinkling", "premature skin wrinkling" ], "alt_id": [ "HP:0200074" ], "def": "The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.", "synonym": [ [ "premature skin wrinkling", "premature skin wrinkling" ], [ "wrinkled skin", "wrinkle skin" ] ], "xref": [ "MEDDRA:10040954 \"Skin wrinkling\"", "MSH:D015595", "SNOMEDCT_US:247434009", "UMLS:C0037301" ], "is_a": [ "HP:0007495" ], "is_obsolete": "", "replace_id": "" }, "HP:0100679": { "name": [ "lack of skin elasticity", "lack of skin elasticity" ], "alt_id": [], "def": "", "synonym": [ [ "tight skin", "tight skin" ] ], "xref": [ "SNOMEDCT_US:297957009", "UMLS:C0558242", "UMLS:C4021998" ], "is_a": [ "HP:0010647" ], "is_obsolete": "", "replace_id": "" }, "HP:0100681": { "name": [ "esophageal duplication", "esophageal duplication" ], "alt_id": [], "def": "A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication.", "synonym": [], "xref": [ "SNOMEDCT_US:66865009", "UMLS:C0266135" ], "is_a": [ "HP:0002031", "HP:0011140" ], "is_obsolete": "", "replace_id": "" }, "HP:0100682": { "name": [ "tracheal atresia", "tracheal atresia" ], "alt_id": [], "def": "A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.", "synonym": [], "xref": [ "SNOMEDCT_US:53189005", "UMLS:C0265766" ], "is_a": [ "HP:0002777" ], "is_obsolete": "", "replace_id": "" }, "HP:0100684": { "name": [ "salivary gland neoplasm", "salivary gland neoplasm" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of a salivary gland.", "synonym": [ [ "cancer of salivary gland", "cancer of salivary gland" ], [ "salivary gland neoplasia", "salivary gland neoplasia" ], [ "tumor of salivary gland", "tumor of salivary gland" ], [ "tumour of salivary gland", "tumour of salivary gland" ] ], "xref": [ "MSH:D012468", "NCIT:C3262", "SNOMEDCT_US:235132004", "SNOMEDCT_US:255072001", "UMLS:C0036095", "UMLS:C0220636" ], "is_a": [ "HP:0010286", "HP:0100649" ], "is_obsolete": "", "replace_id": "" }, "HP:0100685": { "name": [ "abnormal sharpey fiber morphology", "abnormal sharpey fiber morphology" ], "alt_id": [], "def": "An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone.", "synonym": [ [ "abnormal sharpey fibre morphology", "abnormal sharpey fibre morphology" ], [ "abnormality of sharpey fibers", "abnormality of sharpey fiber" ], [ "abnormality of sharpey fibres", "abnormality of sharpey fibre" ], [ "enthesis abnormality", "enthesis abnormality" ] ], "xref": [ "UMLS:C4020701", "UMLS:C4021997" ], "is_a": [ "HP:0003549" ], "is_obsolete": "", "replace_id": "" }, "HP:0100686": { "name": [ "enthesitis", "enthesitis" ], "alt_id": [], "def": "", "synonym": [ [ "inflammation of sharpey fibers", "inflammation of sharpey fiber" ], [ "inflammation of sharpey fibres", "inflammation of sharpey fibre" ] ], "xref": [ "SNOMEDCT_US:359643005", "UMLS:C1282952" ], "is_a": [ "HP:0100685" ], "is_obsolete": "", "replace_id": "" }, "HP:0100687": { "name": [ "polyotia", "polyotia" ], "alt_id": [], "def": "The presence of an extra auricle on one or both sides of the head.", "synonym": [], "xref": [ "SNOMEDCT_US:35547002", "UMLS:C0266611" ], "is_a": [ "HP:0000356" ], "is_obsolete": "", "replace_id": "" }, "HP:0100689": { "name": [ "decreased corneal thickness", "decrease corneal thickness" ], "alt_id": [], "def": "A decreased anteroposterior thickness of the cornea.", "synonym": [ [ "thin cornea", "thin cornea" ] ], "xref": [ "SNOMEDCT_US:423459005", "UMLS:C1096274" ], "is_a": [ "HP:0011486" ], "is_obsolete": "", "replace_id": "" }, "HP:0100690": { "name": [ "mosaic central corneal dystrophy", "mosaic central corneal dystrophy" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021996" ], "is_a": [ "HP:0007836", "HP:0007881" ], "is_obsolete": "", "replace_id": "" }, "HP:0100691": { "name": [ "abnormality of the curvature of the cornea", "abnormality of the curvature of the cornea" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021995" ], "is_a": [ "HP:0000481" ], "is_obsolete": "", "replace_id": "" }, "HP:0100692": { "name": [ "increased corneal curvature", "increase corneal curvature" ], "alt_id": [], "def": "An increase in the degree of curvature of the cornea compared to normal.", "synonym": [ [ "steep corneal curvature", "steep corneal curvature" ] ], "xref": [ "UMLS:C4020956" ], "is_a": [ "HP:0100691" ], "is_obsolete": "", "replace_id": "" }, "HP:0100693": { "name": [ "iridodonesis", "iridodonesis" ], "alt_id": [], "def": "Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.", "synonym": [], "xref": [ "SNOMEDCT_US:118166004", "UMLS:C0423320" ], "is_a": [ "HP:0000525" ], "is_obsolete": "", "replace_id": "" }, "HP:0100694": { "name": [ "tibial torsion", "tibial torsion" ], "alt_id": [], "def": "Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia.", "synonym": [], "xref": [ "SNOMEDCT_US:249785006", "UMLS:C0426900" ], "is_a": [ "HP:0002992" ], "is_obsolete": "", "replace_id": "" }, "HP:0100695": { "name": [ "lipedema", "lipedema" ], "alt_id": [], "def": "Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise .", "synonym": [], "xref": [ "MSH:D065134", "SNOMEDCT_US:234102003", "UMLS:C0398370" ], "is_a": [ "HP:0009126" ], "is_obsolete": "", "replace_id": "" }, "HP:0100697": { "name": [ "neurofibrosarcoma", "neurofibrosarcoma" ], "alt_id": [], "def": "A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma.", "synonym": [ [ "malignant peripheral nerve sheath tumor", "malignant peripheral nerve sheath tumor" ], [ "malignant peripheral nerve sheath tumour", "malignant peripheral nerve sheath tumour" ], [ "malignant schwannoma", "malignant schwannoma" ], [ "neurosarcoma", "neurosarcoma" ] ], "xref": [ "MSH:D009442", "MSH:D018319", "NCIT:C3798", "SNOMEDCT_US:19897006", "SNOMEDCT_US:404037002", "SNOMEDCT_US:77418004", "UMLS:C0206729", "UMLS:C0751690" ], "is_a": [ "HP:0030448" ], "is_obsolete": "", "replace_id": "" }, "HP:0100698": { "name": [ "subcutaneous neurofibromas", "subcutaneous neurofibroma" ], "alt_id": [], "def": "The presence of Neurofibromas in the subcutis.", "synonym": [], "xref": [ "SNOMEDCT_US:425327002", "UMLS:C1827970" ], "is_a": [ "HP:0001067" ], "is_obsolete": "", "replace_id": "" }, "HP:0100699": { "name": [ "scarring", "scar" ], "alt_id": [], "def": "", "synonym": [ [ "scar tissue", "scar tissue" ], [ "scarring", "scar" ] ], "xref": [ "MSH:D002921", "SNOMEDCT_US:48677004", "UMLS:C0008767" ], "is_a": [ "HP:0003549" ], "is_obsolete": "", "replace_id": "" }, "HP:0100700": { "name": [ "abnormal arachnoid mater morphology", "abnormal arachnoid mater morphology" ], "alt_id": [], "def": "An abnormality of the Arachnoid mater.", "synonym": [ [ "abnormality of the arachnoid mater", "abnormality of the arachnoid mater" ], [ "abnormality of the arachnoidea", "abnormality of the arachnoidea" ] ], "xref": [ "UMLS:C4020955" ], "is_a": [ "HP:0010651" ], "is_obsolete": "", "replace_id": "" }, "HP:0100701": { "name": [ "abnormal pia mater", "abnormal pia mater" ], "alt_id": [], "def": "An abnormality of the pia mater.", "synonym": [ [ "abnormality of the pia mater", "abnormality of the pia mater" ] ], "xref": [ "UMLS:C4021994" ], "is_a": [ "HP:0010651" ], "is_obsolete": "", "replace_id": "" }, "HP:0100702": { "name": [ "arachnoid cyst", "arachnoid cyst" ], "alt_id": [], "def": "An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.", "synonym": [ [ "arachnoid cysts", "arachnoid cyst" ], [ "fluid - filled sac located in membrane surrounding brain or spinal cord", "fluid - fill sac locate in membrane surround brain or spinal cord" ] ], "xref": [ "MSH:D016080", "SNOMEDCT_US:33595009", "UMLS:C0078981" ], "is_a": [ "HP:0100700" ], "is_obsolete": "", "replace_id": "" }, "HP:0100703": { "name": [ "tongue thrusting", "tongue thrusting" ], "alt_id": [], "def": "", "synonym": [ [ "tongue thrusting", "tongue thrusting" ] ], "xref": [ "SNOMEDCT_US:110343009", "SNOMEDCT_US:424583005", "UMLS:C1829460" ], "is_a": [ "HP:0000733" ], "is_obsolete": "", "replace_id": "" }, "HP:0100704": { "name": [ "cerebral visual impairment", "cerebral visual impairment" ], "alt_id": [ "HP:0000595" ], "def": "A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.", "synonym": [ [ "cortical blindness", "cortical blindness" ], [ "cortical visual impairment", "cortical visual impairment" ], [ "cortical / cerebral visual impairment", "cortical / cerebral visual impairment" ] ], "xref": [ "MSH:D019575", "SNOMEDCT_US:413924001", "SNOMEDCT_US:68574006", "UMLS:C0155320", "UMLS:C4048268" ], "is_a": [ "HP:0000505" ], "is_obsolete": "", "replace_id": "" }, "HP:0100705": { "name": [ "abnormal glial cell morphology", "abnormal glial cell morphology" ], "alt_id": [], "def": "An abnormality of the glia cell.", "synonym": [ [ "abnormality of the glial cells", "abnormality of the glial cell" ] ], "xref": [ "UMLS:C4021993" ], "is_a": [ "HP:0002011" ], "is_obsolete": "", "replace_id": "" }, "HP:0100706": { "name": [ "abnormal oligodendroglia morphology", "abnormal oligodendroglia morphology" ], "alt_id": [], "def": "One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers.", "synonym": [ [ "abnormality of the oligodendroglia", "abnormality of the oligodendroglia" ] ], "xref": [ "UMLS:C4021992" ], "is_a": [ "HP:0100705" ], "is_obsolete": "", "replace_id": "" }, "HP:0100707": { "name": [ "abnormal astrocyte morphology", "abnormal astrocyte morphology" ], "alt_id": [], "def": "An abnormality of astrocytes.", "synonym": [ [ "abnormality of the astrocytes", "abnormality of the astrocyte" ] ], "xref": [ "UMLS:C4021991" ], "is_a": [ "HP:0100705" ], "is_obsolete": "", "replace_id": "" }, "HP:0100708": { "name": [ "abnormal microglia morphology", "abnormal microglia morphology" ], "alt_id": [], "def": "An abnormality of the microglial cells. They are also known as brain-resident macrophages or hortega cells.", "synonym": [ [ "abnormality of the microglia", "abnormality of the microglia" ] ], "xref": [ "UMLS:C4021990" ], "is_a": [ "HP:0100705" ], "is_obsolete": "", "replace_id": "" }, "HP:0100709": { "name": [ "reduction of oligodendroglia", "reduction of oligodendroglia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021852" ], "is_a": [ "HP:0100706" ], "is_obsolete": "", "replace_id": "" }, "HP:0100710": { "name": [ "impulsivity", "impulsivity" ], "alt_id": [], "def": "Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress.", "synonym": [ [ "impulsive", "impulsive" ], [ "impulsivity", "impulsivity" ] ], "xref": [ "MSH:D007175", "UMLS:C0021125" ], "is_a": [ "HP:0000734" ], "is_obsolete": "", "replace_id": "" }, "HP:0100711": { "name": [ "abnormal thoracic spine morphology", "abnormal thoracic spine morphology" ], "alt_id": [], "def": "An abnormality of the thoracic vertebral column.", "synonym": [ [ "abnormality of the thoracic spine", "abnormality of the thoracic spine" ] ], "xref": [ "UMLS:C4021989" ], "is_a": [ "HP:0000765", "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0100712": { "name": [ "abnormal lumbar spine morphology", "abnormal lumbar spine morphology" ], "alt_id": [], "def": "Any structural abnormality of the lumbar vertebral column.", "synonym": [ [ "abnormality of the lumbar spine", "abnormality of the lumbar spine" ] ], "xref": [ "UMLS:C4021988" ], "is_a": [ "HP:0000925" ], "is_obsolete": "", "replace_id": "" }, "HP:0100716": { "name": [ "self - injurious behavior", "self - injurious behavior" ], "alt_id": [], "def": "Aggression towards oneself.", "synonym": [ [ "autoagression", "autoagression" ], [ "self injury", "self injury" ], [ "self - harm", "self - harm" ], [ "self - injurious behavior", "self - injurious behavior" ], [ "self - injurious behaviors", "self - injurious behavior" ], [ "self - injurious behaviour", "self - injurious behaviour" ], [ "self - injurious behaviours", "self - injurious behaviour" ] ], "xref": [ "MSH:D016728", "SNOMEDCT_US:248062006", "UMLS:C0085271" ], "is_a": [ "HP:0006919" ], "is_obsolete": "", "replace_id": "" }, "HP:0100717": { "name": [ "abnormal cementum morphology", "abnormal cementum morphology" ], "alt_id": [], "def": "Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root).", "synonym": [ [ "abnormality of the cementum", "abnormality of the cementum" ] ], "xref": [ "UMLS:C4021987" ], "is_a": [ "HP:0011061", "HP:3000050" ], "is_obsolete": "", "replace_id": "" }, "HP:0100718": { "name": [ "uterine rupture", "uterine rupture" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D014597", "SNOMEDCT_US:34430009", "UMLS:C0042143" ], "is_a": [ "HP:0031105" ], "is_obsolete": "", "replace_id": "" }, "HP:0100719": { "name": [ "lens coloboma", "lens coloboma" ], "alt_id": [], "def": "A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.", "synonym": [], "xref": [ "SNOMEDCT_US:204134008", "UMLS:C0344516" ], "is_a": [ "HP:0000589", "HP:0008063" ], "is_obsolete": "", "replace_id": "" }, "HP:0100720": { "name": [ "hypoplasia of the ear cartilage", "hypoplasia of the ear cartilage" ], "alt_id": [], "def": "", "synonym": [ [ "underdeveloped ear cartilage", "underdeveloped ear cartilage" ] ], "xref": [ "UMLS:C4021986" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0100721": { "name": [ "mediastinal lymphadenopathy", "mediastinal lymphadenopathy" ], "alt_id": [], "def": "Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.", "synonym": [ [ "swollen lymph nodes in center of chest", "swollen lymph node in center of chest" ], [ "swollen lymph nodes in centre of chest", "swollen lymph node in centre of chest" ] ], "xref": [ "SNOMEDCT_US:52324001", "UMLS:C0520743" ], "is_a": [ "HP:0002716", "HP:0045026" ], "is_obsolete": "", "replace_id": "" }, "HP:0100723": { "name": [ "gastrointestinal stroma tumor", "gastrointestinal stroma tumor" ], "alt_id": [], "def": "", "synonym": [ [ "gastrointestinal stroma tumour", "gastrointestinal stroma tumour" ], [ "gastrointestinal stromal tumor", "gastrointestinal stromal tumor" ], [ "gastrointestinal stromal tumors", "gastrointestinal stromal tumor" ], [ "gastrointestinal stromal tumour", "gastrointestinal stromal tumour" ], [ "gastrointestinal stromal tumours", "gastrointestinal stromal tumour" ], [ "gi stroma tumor", "gi stroma tumor" ], [ "gi stroma tumour", "gi stroma tumour" ] ], "xref": [ "MSH:D046152", "SNOMEDCT_US:128755003", "SNOMEDCT_US:420120006", "UMLS:C0238198" ], "is_a": [ "HP:0007378" ], "is_obsolete": "", "replace_id": "" }, "HP:0100724": { "name": [ "hypercoagulability", "hypercoagulability" ], "alt_id": [], "def": "An abnormality of coagulation associated with an increased risk of thrombosis.", "synonym": [ [ "blood hyperviscosity", "blood hyperviscosity" ], [ "thrombophilia", "thrombophilia" ] ], "xref": [ "MSH:D019851", "SNOMEDCT_US:234467004", "SNOMEDCT_US:76612001", "UMLS:C0398623" ], "is_a": [ "HP:0001928" ], "is_obsolete": "", "replace_id": "" }, "HP:0100725": { "name": [ "lichenification", "lichenification" ], "alt_id": [], "def": "Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.", "synonym": [], "xref": [ "SNOMEDCT_US:19940005", "SNOMEDCT_US:402237006", "UMLS:C0023653" ], "is_a": [ "HP:0011121" ], "is_obsolete": "", "replace_id": "" }, "HP:0100726": { "name": [ "kaposi 's sarcoma", "kaposi 's sarcoma" ], "alt_id": [], "def": "A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV).", "synonym": [], "xref": [ "MSH:D012514", "SNOMEDCT_US:109385007", "SNOMEDCT_US:49937004", "UMLS:C0036220" ], "is_a": [ "HP:0008069" ], "is_obsolete": "", "replace_id": "" }, "HP:0100727": { "name": [ "histiocytosis", "histiocytosis" ], "alt_id": [], "def": "An excessive number of histiocytes (tissue macrophages).", "synonym": [], "xref": [ "MSH:D015614", "SNOMEDCT_US:60657004", "SNOMEDCT_US:65396000", "UMLS:C0019618" ], "is_a": [ "HP:0004311" ], "is_obsolete": "", "replace_id": "" }, "HP:0100728": { "name": [ "germ cell neoplasia", "germ cell neoplasia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "NCIT:C3708", "UMLS:C4021985" ], "is_a": [ "HP:0010785" ], "is_obsolete": "", "replace_id": "" }, "HP:0100729": { "name": [ "large face", "large face" ], "alt_id": [], "def": "", "synonym": [ [ "big face", "big face" ], [ "large face", "large face" ], [ "large facies", "large facies" ] ], "xref": [ "UMLS:C2748652" ], "is_a": [ "HP:0001999" ], "is_obsolete": "", "replace_id": "" }, "HP:0100730": { "name": [ "bronchogenic cyst", "bronchogenic cyst" ], "alt_id": [], "def": "A rare congenital cystic lesion of the lungs in the mediastinum.", "synonym": [], "xref": [ "MSH:D001994", "SNOMEDCT_US:268194008", "SNOMEDCT_US:9550003", "UMLS:C0006281" ], "is_a": [ "HP:0032445" ], "is_obsolete": "", "replace_id": "" }, "HP:0100731": { "name": [ "transverse facial cleft", "transverse facial cleft" ], "alt_id": [], "def": "A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear.", "synonym": [ [ "lateral facial cleft", "lateral facial cleft" ] ], "xref": [ "UMLS:C4020954" ], "is_a": [ "HP:0002006", "HP:0011338" ], "is_obsolete": "", "replace_id": "" }, "HP:0100732": { "name": [ "pancreatic fibrosis", "pancreatic fibrosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:25942009", "UMLS:C0267952" ], "is_a": [ "HP:0012090" ], "is_obsolete": "", "replace_id": "" }, "HP:0100733": { "name": [ "neoplasm of the parathyroid gland", "neoplasm of the parathyroid gland" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the parathyroid gland.", "synonym": [ [ "parathyroid neoplasia", "parathyroid neoplasia" ] ], "xref": [ "MSH:D010282", "NCIT:C3262", "SNOMEDCT_US:127020005", "UMLS:C0030521" ], "is_a": [ "HP:0011766", "HP:0100568" ], "is_obsolete": "", "replace_id": "" }, "HP:0100734": { "name": [ "abnormality of vertebral epiphysis morphology", "abnormality of vertebral epiphysis morphology" ], "alt_id": [], "def": "An anomaly of one or more epiphyses of one or more vertebrae.", "synonym": [ [ "abnormal shape of the end part of the vertebra bone", "abnormal shape of the end part of the vertebra bone" ], [ "abnormality of the vertebral epiphyses", "abnormality of the vertebral epiphysis" ] ], "xref": [ "UMLS:C4020953" ], "is_a": [ "HP:0003468", "HP:0005930" ], "is_obsolete": "", "replace_id": "" }, "HP:0100735": { "name": [ "hypertensive crisis", "hypertensive crisis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:706882009", "UMLS:C0020546" ], "is_a": [ "HP:0000822" ], "is_obsolete": "", "replace_id": "" }, "HP:0100736": { "name": [ "abnormal soft palate morphology", "abnormal soft palate morphology" ], "alt_id": [], "def": "An abnormality of the soft palate.", "synonym": [ [ "abnormality of the muscular palate", "abnormality of the muscular palate" ], [ "abnormality of the soft palate", "abnormality of the soft palate" ], [ "abnormality of the velum", "abnormality of the velum" ], [ "abnormality of the velum palatinum", "abnormality of the velum palatinum" ] ], "xref": [ "UMLS:C4021984" ], "is_a": [ "HP:0000174" ], "is_obsolete": "", "replace_id": "" }, "HP:0100737": { "name": [ "abnormal hard palate morphology", "abnormal hard palate morphology" ], "alt_id": [], "def": "", "synonym": [ [ "abnormality of the hard palate", "abnormality of the hard palate" ], [ "abnormality of the secondary palate", "abnormality of the secondary palate" ] ], "xref": [ "UMLS:C4021983" ], "is_a": [ "HP:0000174" ], "is_obsolete": "", "replace_id": "" }, "HP:0100738": { "name": [ "abnormal eating behavior", "abnormal eat behavior" ], "alt_id": [], "def": "Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption.", "synonym": [ [ "abnormal eating behavior", "abnormal eat behavior" ], [ "abnormal eating behaviour", "abnormal eat behaviour" ] ], "xref": [ "UMLS:C4021982" ], "is_a": [ "HP:0040202" ], "is_obsolete": "", "replace_id": "" }, "HP:0100739": { "name": [ "bulimia", "bulimia" ], "alt_id": [], "def": "A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these).", "synonym": [ [ "binge and purge", "binge and purge" ] ], "xref": [ "MSH:D002032", "SNOMEDCT_US:78004001", "UMLS:C0006370" ], "is_a": [ "HP:0100738" ], "is_obsolete": "", "replace_id": "" }, "HP:0100742": { "name": [ "vascular neoplasm", "vascular neoplasm" ], "alt_id": [], "def": "A benign or malignant neoplasm (tumour) originating in the vascular system.", "synonym": [ [ "blood vessel tumor", "blood vessel tumor" ], [ "blood vessel tumour", "blood vessel tumour" ] ], "xref": [ "MSH:D009383", "MSH:D019043", "NCIT:C3262", "SNOMEDCT_US:115235003", "SNOMEDCT_US:126736007", "SNOMEDCT_US:699605009", "UMLS:C0027668", "UMLS:C0282607" ], "is_a": [ "HP:0002597", "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0100743": { "name": [ "neoplasm of the rectum", "neoplasm of the rectum" ], "alt_id": [], "def": "", "synonym": [ [ "rectal tumor", "rectal tumor" ], [ "rectal tumour", "rectal tumour" ] ], "xref": [ "MSH:D012004", "NCIT:C3262", "SNOMEDCT_US:126847008", "UMLS:C0034885" ], "is_a": [ "HP:0002034", "HP:0100834" ], "is_obsolete": "", "replace_id": "" }, "HP:0100744": { "name": [ "abnormality of the humeroradial joint", "abnormality of the humeroradial joint" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021981" ], "is_a": [ "HP:0009811" ], "is_obsolete": "", "replace_id": "" }, "HP:0100745": { "name": [ "abnormality of the humeroulnar joint", "abnormality of the humeroulnar joint" ], "alt_id": [], "def": "An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint.", "synonym": [], "xref": [ "UMLS:C4021980" ], "is_a": [ "HP:0009811" ], "is_obsolete": "", "replace_id": "" }, "HP:0100746": { "name": [ "macrodactyly of finger", "macrodactyly of finger" ], "alt_id": [], "def": "A type of Macrodactyly affecting one or several fingers.", "synonym": [ [ "macrodactyly of hands", "macrodactyly of hand" ] ], "xref": [ "MSH:C537720", "SNOMEDCT_US:297195000", "UMLS:C0574044" ], "is_a": [ "HP:0001167", "HP:0004099" ], "is_obsolete": "", "replace_id": "" }, "HP:0100747": { "name": [ "macrodactyly of toe", "macrodactyly of toe" ], "alt_id": [], "def": "A type of Macrodactyly affecting one or several toes.", "synonym": [ [ "foot macrodactyly", "foot macrodactyly" ] ], "xref": [ "MSH:C537719", "UMLS:C2931596" ], "is_a": [ "HP:0001780", "HP:0004099" ], "is_obsolete": "", "replace_id": "" }, "HP:0100748": { "name": [ "muscular edema", "muscular edema" ], "alt_id": [], "def": "", "synonym": [ [ "muscular oedema", "muscular oedema" ] ], "xref": [ "UMLS:C4021979" ], "is_a": [ "HP:0000969", "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0100749": { "name": [ "chest pain", "chest pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.", "synonym": [ [ "chest discomfort", "chest discomfort" ], [ "chest pain", "chest pain" ], [ "thoracic pain", "thoracic pain" ] ], "xref": [ "MSH:D002637", "SNOMEDCT_US:29857009", "UMLS:C0008031" ], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0100750": { "name": [ "atelectasis", "atelectasis" ], "alt_id": [], "def": "Collapse of part of a lung associated with absence of inflation (air) of that part.", "synonym": [ [ "partial or complete collapse of part or entire lung", "partial or complete collapse of part or entire lung" ], [ "pulmonary atelectasis", "pulmonary atelectasis" ] ], "xref": [ "MSH:D001261", "SNOMEDCT_US:46621007", "UMLS:C0004144" ], "is_a": [ "HP:0031983" ], "is_obsolete": "", "replace_id": "" }, "HP:0100751": { "name": [ "esophageal neoplasm", "esophageal neoplasm" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the esophagus.", "synonym": [ [ "esophageal tumor", "esophageal tumor" ], [ "esophageal tumour", "esophageal tumour" ] ], "xref": [ "MSH:D004938", "NCIT:C3262", "SNOMEDCT_US:126817006", "UMLS:C0014859" ], "is_a": [ "HP:0002031", "HP:0007378", "HP:0012288" ], "is_obsolete": "", "replace_id": "" }, "HP:0100752": { "name": [ "abnormal liver lobulation", "abnormal liver lobulation" ], "alt_id": [], "def": "Formation of abnormal lobules (small masses of tissue) in the liver.", "synonym": [ [ "anomalous liver lobulation", "anomalous liver lobulation" ], [ "hepatic anomalous lobulation", "hepatic anomalous lobulation" ] ], "xref": [ "SNOMEDCT_US:253811003", "UMLS:C0345286" ], "is_a": [ "HP:0030146" ], "is_obsolete": "", "replace_id": "" }, "HP:0100753": { "name": [ "schizophrenia", "schizophrenia" ], "alt_id": [], "def": "A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%.", "synonym": [], "xref": [ "MSH:D012559", "SNOMEDCT_US:191526005", "SNOMEDCT_US:58214004", "UMLS:C0036341" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0100754": { "name": [ "mania", "mania" ], "alt_id": [], "def": "A state of abnormally elevated or irritable mood, arousal, and or energy levels.", "synonym": [ [ "manic", "manic" ] ], "xref": [ "MSH:D001714", "SNOMEDCT_US:231494001", "UMLS:C0338831" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0100755": { "name": [ "abnormality of salivation", "abnormality of salivation" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal spit", "abnormal spit" ], [ "abnormality of salivation", "abnormality of salivation" ] ], "xref": [ "UMLS:C4021978" ], "is_a": [ "HP:0031815" ], "is_obsolete": "", "replace_id": "" }, "HP:0100757": { "name": [ "pancreatoblastoma", "pancreatoblastoma" ], "alt_id": [], "def": "A rare pediatric carcinoma of the pancreas.", "synonym": [], "xref": [ "MSH:C537162", "SNOMEDCT_US:53618008", "UMLS:C0334489" ], "is_a": [ "HP:0002894" ], "is_obsolete": "", "replace_id": "" }, "HP:0100758": { "name": [ "gangrene", "gangrene" ], "alt_id": [], "def": "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).", "synonym": [ [ "death of body tissue due to lack of blood flow or infection", "death of body tissue due to lack of blood flow or infection" ] ], "xref": [ "MSH:D005734", "SNOMEDCT_US:36024000", "SNOMEDCT_US:372070002", "UMLS:C0017086" ], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0100759": { "name": [ "clubbing of fingers", "clubbing of finger" ], "alt_id": [], "def": "Terminal broadening of the fingers (distal phalanges of the fingers).", "synonym": [ [ "clubbed fingers", "clubbed finger" ], [ "clubbing ( hands )", "clubbing ( hand )" ], [ "clubbing of fingers", "clubbing of finger" ], [ "finger clubbing", "finger club" ] ], "xref": [ "MEDDRA:10016680 \"Finger clubbing\"", "MSH:D010005", "SNOMEDCT_US:30760008", "UMLS:C0009080" ], "is_a": [ "HP:0001211", "HP:0001217" ], "is_obsolete": "", "replace_id": "" }, "HP:0100760": { "name": [ "clubbing of toes", "clubbing of toe" ], "alt_id": [], "def": "Terminal broadening of the toes (distal phalanges of the toes).", "synonym": [ [ "clubbed toes", "clubbed toe" ] ], "xref": [ "MSH:D003025", "SNOMEDCT_US:249808002", "SNOMEDCT_US:397932003", "SNOMEDCT_US:53148007", "UMLS:C0009081", "UMLS:C3887489" ], "is_a": [ "HP:0001217", "HP:0010161" ], "is_obsolete": "", "replace_id": "" }, "HP:0100761": { "name": [ "visceral angiomatosis", "visceral angiomatosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021977" ], "is_a": [ "HP:0007461" ], "is_obsolete": "", "replace_id": "" }, "HP:0100762": { "name": [ "hemobilia", "hemobilia" ], "alt_id": [], "def": "Bleeding into the biliary tree.", "synonym": [ [ "haemobilia", "haemobilia" ] ], "xref": [ "MSH:D006431", "SNOMEDCT_US:66556007", "UMLS:C0018994" ], "is_a": [ "HP:0012439" ], "is_obsolete": "", "replace_id": "" }, "HP:0100763": { "name": [ "abnormality of the lymphatic system", "abnormality of the lymphatic system" ], "alt_id": [ "HP:0003012" ], "def": "An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.", "synonym": [ [ "lymphatic disease", "lymphatic disease" ] ], "xref": [ "MSH:D008206", "SNOMEDCT_US:111590001", "SNOMEDCT_US:234087005", "SNOMEDCT_US:3305006", "SNOMEDCT_US:362971004", "UMLS:C0024228", "UMLS:C4021976" ], "is_a": [ "HP:0002597", "HP:0002715" ], "is_obsolete": "", "replace_id": "" }, "HP:0100764": { "name": [ "lymphangioma", "lymphangioma" ], "alt_id": [], "def": "Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor.", "synonym": [], "xref": [ "MSH:D008202", "NCIT:C8965", "SNOMEDCT_US:253057002", "SNOMEDCT_US:254836000", "SNOMEDCT_US:400178008", "SNOMEDCT_US:69044001", "UMLS:C0024221" ], "is_a": [ "HP:0010566", "HP:0100763" ], "is_obsolete": "", "replace_id": "" }, "HP:0100765": { "name": [ "abnormality of the tonsils", "abnormality of the tonsil" ], "alt_id": [], "def": "An abnormality of the tonsils.", "synonym": [], "xref": [ "UMLS:C4021975" ], "is_a": [ "HP:0100763" ], "is_obsolete": "", "replace_id": "" }, "HP:0100766": { "name": [ "abnormal lymphatic vessel morphology", "abnormal lymphatic vessel morphology" ], "alt_id": [], "def": "A structural anomaly of the vessel that contains or conveys lymph fluid.", "synonym": [ [ "abnormality of the lymphatic vessels", "abnormality of the lymphatic vessel" ] ], "xref": [ "UMLS:C4021974" ], "is_a": [ "HP:0025015", "HP:0100763" ], "is_obsolete": "", "replace_id": "" }, "HP:0100767": { "name": [ "abnormal placenta morphology", "abnormal placenta morphology" ], "alt_id": [], "def": "An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.", "synonym": [ [ "abnormality of the placenta", "abnormality of the placenta" ], [ "placental issue", "placental issue" ] ], "xref": [ "SNOMEDCT_US:169957005", "SNOMEDCT_US:33552005", "UMLS:C1306893" ], "is_a": [ "HP:0001194" ], "is_obsolete": "", "replace_id": "" }, "HP:0100768": { "name": [ "choriocarcinoma", "choriocarcinoma" ], "alt_id": [], "def": "A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors.", "synonym": [], "xref": [ "MSH:D002822", "SNOMEDCT_US:188188009", "SNOMEDCT_US:44769000", "UMLS:C0008497" ], "is_a": [ "HP:0031502", "HP:0100767" ], "is_obsolete": "", "replace_id": "" }, "HP:0100769": { "name": [ "synovitis", "synovitis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D013585", "SNOMEDCT_US:416209007", "UMLS:C0039103" ], "is_a": [ "HP:0005262" ], "is_obsolete": "", "replace_id": "" }, "HP:0100770": { "name": [ "hyperperistalsis", "hyperperistalsis" ], "alt_id": [], "def": "Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine.", "synonym": [ [ "stomach churning", "stomach churn" ] ], "xref": [ "SNOMEDCT_US:271838002", "SNOMEDCT_US:80306002", "UMLS:C0232474", "UMLS:C0857071" ], "is_a": [ "HP:0030914" ], "is_obsolete": "", "replace_id": "" }, "HP:0100771": { "name": [ "hypoperistalsis", "hypoperistalsis" ], "alt_id": [], "def": "Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.", "synonym": [ [ "intestinal hypoperistalsis", "intestinal hypoperistalsis" ] ], "xref": [ "SNOMEDCT_US:77853002", "UMLS:C0232475", "UMLS:C4020700" ], "is_a": [ "HP:0030914" ], "is_obsolete": "", "replace_id": "" }, "HP:0100773": { "name": [ "cartilage destruction", "cartilage destruction" ], "alt_id": [], "def": "", "synonym": [ [ "cartilage destruction", "cartilage destruction" ] ], "xref": [ "UMLS:C4021973" ], "is_a": [ "HP:0002763" ], "is_obsolete": "", "replace_id": "" }, "HP:0100774": { "name": [ "hyperostosis", "hyperostosis" ], "alt_id": [], "def": "Excessive growth or abnormal thickening of bone tissue.", "synonym": [ [ "bone hypertrophy", "bone hypertrophy" ], [ "bone overgrowth", "bone overgrowth" ] ], "xref": [ "MSH:D015576", "SNOMEDCT_US:13814009", "SNOMEDCT_US:203514008", "UMLS:C0020492" ], "is_a": [ "HP:0011842" ], "is_obsolete": "", "replace_id": "" }, "HP:0100775": { "name": [ "dural ectasia", "dural ectasia" ], "alt_id": [], "def": "A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.", "synonym": [], "xref": [ "UMLS:C1851712" ], "is_a": [ "HP:0010303" ], "is_obsolete": "", "replace_id": "" }, "HP:0100776": { "name": [ "recurrent pharyngitis", "recurrent pharyngitis" ], "alt_id": [], "def": "An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.", "synonym": [ [ "pharyngitis , recurrent", "pharyngitis , recurrent" ], [ "recurrent sore throat", "recurrent sore throat" ] ], "xref": [ "UMLS:C0747556" ], "is_a": [ "HP:0002788", "HP:0025439" ], "is_obsolete": "", "replace_id": "" }, "HP:0100777": { "name": [ "exostoses", "exostosis" ], "alt_id": [], "def": "An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.", "synonym": [ [ "formation of new noncancerous bone on top of existing bone", "formation of new noncancerous bone on top of exist bone" ] ], "xref": [ "MSH:D005096", "SNOMEDCT_US:416189003", "SNOMEDCT_US:80400009", "UMLS:C1442903" ], "is_a": [ "HP:0010622" ], "is_obsolete": "", "replace_id": "" }, "HP:0100778": { "name": [ "cryoglobulinemia", "cryoglobulinemia" ], "alt_id": [], "def": "Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius.", "synonym": [ [ "cryoprecipitable immune complexes", "cryoprecipitable immune complex" ] ], "xref": [ "MSH:D003449", "SNOMEDCT_US:30911005", "UMLS:C0010403" ], "is_a": [ "HP:0005368" ], "is_obsolete": "", "replace_id": "" }, "HP:0100779": { "name": [ "urogenital sinus anomaly", "urogenital sinus anomaly" ], "alt_id": [], "def": "A rare birth defect in women where the urethra and vagina both open into a common channel.", "synonym": [], "xref": [ "UMLS:C4021972" ], "is_a": [ "HP:0000142", "HP:0000795" ], "is_obsolete": "", "replace_id": "" }, "HP:0100780": { "name": [ "conjunctival hamartoma", "conjunctival hamartoma" ], "alt_id": [], "def": "A hamartoma (disordered proliferation of mature tissues) of the conjunctiva.", "synonym": [], "xref": [ "UMLS:C4021849" ], "is_a": [ "HP:0000502", "HP:0010568" ], "is_obsolete": "", "replace_id": "" }, "HP:0100781": { "name": [ "abnormal sacroiliac joint morphology", "abnormal sacroiliac joint morphology" ], "alt_id": [], "def": "An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).", "synonym": [ [ "abnormality of the sacroiliac joint", "abnormality of the sacroiliac joint" ] ], "xref": [ "UMLS:C0262621" ], "is_a": [ "HP:0001367", "HP:0002867", "HP:0005107" ], "is_obsolete": "", "replace_id": "" }, "HP:0100783": { "name": [ "breast aplasia", "breast aplasia" ], "alt_id": [], "def": "Failure to develop and congenital absence of the breast.", "synonym": [ [ "absent breast", "absent breast" ], [ "congenital absence of breast", "congenital absence of breast" ], [ "mammary gland aplasia", "mammary gland aplasia" ] ], "xref": [ "SNOMEDCT_US:111324004", "UMLS:C0266009" ], "is_a": [ "HP:0010311" ], "is_obsolete": "", "replace_id": "" }, "HP:0100784": { "name": [ "peripheral arteriovenous fistula", "peripheral arteriovenous fistula" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021971" ], "is_a": [ "HP:0004947" ], "is_obsolete": "", "replace_id": "" }, "HP:0100785": { "name": [ "insomnia", "insomnia" ], "alt_id": [], "def": "Persistent difficulty initiating or maintaining sleep.", "synonym": [ [ "difficulty staying or falling asleep", "difficulty stay or fall asleep" ], [ "fragmented sleep", "fragment sleep" ] ], "xref": [ "MSH:D007319", "SNOMEDCT_US:193462001", "UMLS:C0917801" ], "is_a": [ "HP:0002360" ], "is_obsolete": "", "replace_id": "" }, "HP:0100786": { "name": [ "hypersomnia", "hypersomnia" ], "alt_id": [], "def": "", "synonym": [ [ "excessive sleepiness", "excessive sleepiness" ] ], "xref": [ "MSH:D006970", "SNOMEDCT_US:77692006", "UMLS:C0917799" ], "is_a": [ "HP:0002360" ], "is_obsolete": "", "replace_id": "" }, "HP:0100787": { "name": [ "prostate neoplasm", "prostate neoplasm" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D011471", "SNOMEDCT_US:126906006", "UMLS:C0033578" ], "is_a": [ "HP:0008775", "HP:0033019" ], "is_obsolete": "", "replace_id": "" }, "HP:0100788": { "name": [ "fused lips", "fuse lip" ], "alt_id": [], "def": "Lack of separation of the upper and lower lips.", "synonym": [ [ "adhesion of upper and lower lips", "adhesion of upper and low lip" ], [ "fused lips", "fuse lip" ], [ "fusion of upper and lower lips", "fusion of upper and low lip" ] ], "xref": [ "UMLS:C4021970" ], "is_a": [ "HP:0000159" ], "is_obsolete": "", "replace_id": "" }, "HP:0100789": { "name": [ "torus palatinus", "torus palatinus" ], "alt_id": [], "def": "A bony protrusion present on the midline of the hard palate.", "synonym": [ [ "maxillary torus", "maxillary torus" ], [ "palatal tori", "palatal torus" ], [ "palatal torus", "palatal torus" ], [ "palate exostoses", "palate exostosis" ], [ "prominent midpalatal ridge", "prominent midpalatal ridge" ] ], "xref": [ "SNOMEDCT_US:244683008", "SNOMEDCT_US:46752004", "SNOMEDCT_US:697945009", "UMLS:C0266981", "UMLS:C0447996", "UMLS:C1840236" ], "is_a": [ "HP:0100737" ], "is_obsolete": "", "replace_id": "" }, "HP:0100790": { "name": [ "hernia", "hernia" ], "alt_id": [], "def": "", "synonym": [ [ "hernias", "hernia" ] ], "xref": [ "MSH:D006547", "SNOMEDCT_US:414403008", "SNOMEDCT_US:52515009", "UMLS:C0019270" ], "is_a": [ "HP:0003549" ], "is_obsolete": "", "replace_id": "" }, "HP:0100792": { "name": [ "acantholysis", "acantholysis" ], "alt_id": [], "def": "The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.", "synonym": [ [ "nikolsky 's sign", "nikolsky 's sign" ] ], "xref": [ "MSH:D000051", "SNOMEDCT_US:43327007", "SNOMEDCT_US:441837004", "UMLS:C0000887", "UMLS:C0241128" ], "is_a": [ "HP:0011124" ], "is_obsolete": "", "replace_id": "" }, "HP:0100795": { "name": [ "abnormally straight spine", "abnormally straight spine" ], "alt_id": [], "def": "The absence of the normal curvature of the vertebral column.", "synonym": [ [ "abnormally straight spine", "abnormally straight spine" ] ], "xref": [ "UMLS:C4021969" ], "is_a": [ "HP:0010674" ], "is_obsolete": "", "replace_id": "" }, "HP:0100796": { "name": [ "orchitis", "orchitis" ], "alt_id": [], "def": "Testicular inflammation.", "synonym": [ [ "inflammation of testicles", "inflammation of testicle" ] ], "xref": [ "MSH:D009920", "SNOMEDCT_US:274718005", "UMLS:C0029191" ], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0100797": { "name": [ "toenail dysplasia", "toenail dysplasia" ], "alt_id": [], "def": "An abnormality of the development of the toenails.", "synonym": [ [ "abnormal toenail development", "abnormal toenail development" ], [ "dysplastic toenails", "dysplastic toenail" ] ], "xref": [ "UMLS:C3276623" ], "is_a": [ "HP:0002164", "HP:0008388" ], "is_obsolete": "", "replace_id": "" }, "HP:0100798": { "name": [ "fingernail dysplasia", "fingernail dysplasia" ], "alt_id": [], "def": "An abnormality of the development of the fingernails.", "synonym": [ [ "abnormal fingernail development", "abnormal fingernail development" ], [ "dysplastic fingernails", "dysplastic fingernail" ] ], "xref": [ "UMLS:C4020952" ], "is_a": [ "HP:0001231", "HP:0002164" ], "is_obsolete": "", "replace_id": "" }, "HP:0100799": { "name": [ "neoplasm of the middle ear", "neoplasm of the middle ear" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the middle ear.", "synonym": [ [ "middle ear tumor", "middle ear tumor" ], [ "middle ear tumour", "middle ear tumour" ], [ "neoplasia of the middle ear", "neoplasia of the middle ear" ] ], "xref": [ "NCIT:C3262", "SNOMEDCT_US:127006003", "UMLS:C0345617" ], "is_a": [ "HP:0000370", "HP:0012780" ], "is_obsolete": "", "replace_id": "" }, "HP:0100800": { "name": [ "aplasia / hypoplasia of the pancreas", "aplasia / hypoplasia of the pancreas" ], "alt_id": [], "def": "A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.", "synonym": [ [ "absent / small pancreas", "absent / small pancreas" ], [ "absent / underdeveloped pancreas", "absent / underdevelop pancreas" ] ], "xref": [ "UMLS:C4021968" ], "is_a": [ "HP:0012094" ], "is_obsolete": "", "replace_id": "" }, "HP:0100801": { "name": [ "pancreatic aplasia", "pancreatic aplasia" ], "alt_id": [], "def": "Aplasia of the pancreas.", "synonym": [ [ "absent pancreas", "absent pancreas" ] ], "xref": [ "UMLS:C4021967" ], "is_a": [ "HP:0100800" ], "is_obsolete": "", "replace_id": "" }, "HP:0100802": { "name": [ "malposition of the stomach", "malposition of the stomach" ], "alt_id": [], "def": "Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation.", "synonym": [ [ "abnormal stomach location", "abnormal stomach location" ], [ "gastric ectopia", "gastric ectopia" ], [ "gastric malposition", "gastric malposition" ] ], "xref": [ "UMLS:C1402983" ], "is_a": [ "HP:0002577" ], "is_obsolete": "", "replace_id": "" }, "HP:0100803": { "name": [ "abnormality of the periungual region", "abnormality of the periungual region" ], "alt_id": [], "def": "An abnormality of the region around the nails of the fingers or toes.", "synonym": [], "xref": [ "UMLS:C4021966" ], "is_a": [ "HP:0001597", "HP:0011356" ], "is_obsolete": "", "replace_id": "" }, "HP:0100804": { "name": [ "ungual fibroma", "ungual fibroma" ], "alt_id": [], "def": "Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate).", "synonym": [ [ "koenen tumor", "koenen tumor" ], [ "koenen tumour", "koenen tumour" ], [ "koenen 's tumor", "koenen 's tumor" ], [ "koenen 's tumour", "koenen 's tumour" ], [ "parungual fibromas", "parungual fibroma" ], [ "periungual fibroma", "periungual fibroma" ] ], "xref": [ "SNOMEDCT_US:264561009", "UMLS:C0442880" ], "is_a": [ "HP:0010614", "HP:0100803", "HP:0100826" ], "is_obsolete": "", "replace_id": "" }, "HP:0100805": { "name": [ "obsolete precocious menopause", "obsolete precocious menopause" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0100806": { "name": [ "sepsis", "sepsis" ], "alt_id": [], "def": "Systemic inflammatory response to infection.", "synonym": [ [ "infection in blood stream", "infection in blood stream" ] ], "xref": [ "MSH:D018805", "UMLS:C0036690" ], "is_a": [ "HP:0010978" ], "is_obsolete": "", "replace_id": "" }, "HP:0100807": { "name": [ "long fingers", "long finger" ], "alt_id": [ "HP:0006010" ], "def": "The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.", "synonym": [ [ "long fingers", "long finger" ] ], "xref": [ "UMLS:C1858091" ], "is_a": [ "HP:0001167" ], "is_obsolete": "", "replace_id": "" }, "HP:0100808": { "name": [ "gastric diverticulum", "gastric diverticulum" ], "alt_id": [], "def": "An outpouching of the gastric wall.", "synonym": [ [ "stomach diverticulum", "stomach diverticulum" ] ], "xref": [ "MSH:D013273", "SNOMEDCT_US:75198005", "UMLS:C0038355" ], "is_a": [ "HP:0002577" ], "is_obsolete": "", "replace_id": "" }, "HP:0100809": { "name": [ "scalp tenderness", "scalp tenderness" ], "alt_id": [], "def": "Pain or discomfort of the scalp elicited by palpation.", "synonym": [ [ "allodynia of scalp", "allodynia of scalp" ], [ "scalp hypersensitivity", "scalp hypersensitivity" ], [ "scalp pain", "scalp pain" ], [ "scalp tenderness", "scalp tenderness" ] ], "xref": [ "MEDDRA:10039521 \"Scalp tenderness\"", "SNOMEDCT_US:75851004", "UMLS:C0151206", "UMLS:C0240940", "UMLS:C4073183" ], "is_a": [ "HP:0001965" ], "is_obsolete": "", "replace_id": "" }, "HP:0100810": { "name": [ "pointed helix", "point helix" ], "alt_id": [], "def": "", "synonym": [ [ "elfin ear", "elfin ear" ], [ "pointed ear", "point ear" ], [ "spock ear", "spock ear" ], [ "spock 's ear", "spock 's ear" ], [ "vulcan ear", "vulcan ear" ] ], "xref": [ "UMLS:C4020951" ], "is_a": [ "HP:0011039" ], "is_obsolete": "", "replace_id": "" }, "HP:0100811": { "name": [ "aplasia / hypoplasia of the colon", "aplasia / hypoplasia of the colon" ], "alt_id": [], "def": "Congenital absence or underdevelopment of the colon.", "synonym": [ [ "absent / small colon", "absent / small colon" ], [ "absent / underdeveloped colon", "absent / underdevelop colon" ] ], "xref": [ "UMLS:C4021964" ], "is_a": [ "HP:0002250", "HP:0005245" ], "is_obsolete": "", "replace_id": "" }, "HP:0100812": { "name": [ "halitosis", "halitosis" ], "alt_id": [], "def": "Noticeably unpleasant odors exhaled in breathing.", "synonym": [ [ "bad breath", "bad breath" ], [ "foetor ex ore", "foetor ex ore" ] ], "xref": [ "MEDDRA:10006326 \"Breath odour\"", "MSH:D006209", "SNOMEDCT_US:79879001", "UMLS:C0018520" ], "is_a": [ "HP:0025142", "HP:0031815" ], "is_obsolete": "", "replace_id": "" }, "HP:0100813": { "name": [ "testicular torsion", "testicular torsion" ], "alt_id": [], "def": "Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain.", "synonym": [ [ "spermatic cord torsion", "spermatic cord torsion" ] ], "xref": [ "MSH:D013086", "SNOMEDCT_US:49198006", "SNOMEDCT_US:81996005", "UMLS:C0037856" ], "is_a": [ "HP:0000035" ], "is_obsolete": "", "replace_id": "" }, "HP:0100814": { "name": [ "blue nevus", "blue nevus" ], "alt_id": [], "def": "", "synonym": [ [ "congenital dermal melanocytosis", "congenital dermal melanocytosis" ], [ "mongolian spot", "mongolian spot" ] ], "xref": [ "MSH:D049328", "SNOMEDCT_US:40467008", "UMLS:C0265985", "UMLS:C4020699" ], "is_a": [ "HP:0003764" ], "is_obsolete": "", "replace_id": "" }, "HP:0100816": { "name": [ "lip hyperpigmentation", "lip hyperpigmentation" ], "alt_id": [], "def": "", "synonym": [ [ "darkening of skin of the lips", "darkening of skin of the lip" ], [ "hyperpigmentation of lip vermillion", "hyperpigmentation of lip vermillion" ], [ "increased pigmentation on the lips", "increase pigmentation on the lip" ] ], "xref": [ "UMLS:C4021963" ], "is_a": [ "HP:0007400", "HP:0032453" ], "is_obsolete": "", "replace_id": "" }, "HP:0100817": { "name": [ "renovascular hypertension", "renovascular hypertension" ], "alt_id": [ "HP:0008741" ], "def": "The presence of hypertension related to stenosis of the renal artery.", "synonym": [ [ "hypertension due to renal artery hyperplasia", "hypertension due to renal artery hyperplasia" ] ], "xref": [ "MSH:D006978", "SNOMEDCT_US:123799005", "UMLS:C0020545" ], "is_a": [ "HP:0000822", "HP:0012211" ], "is_obsolete": "", "replace_id": "" }, "HP:0100818": { "name": [ "long thorax", "long thorax" ], "alt_id": [], "def": "Increased inferior to superior extent of the thorax.", "synonym": [ [ "long rib cage", "long rib cage" ] ], "xref": [ "SNOMEDCT_US:298710001", "UMLS:C0575484" ], "is_a": [ "HP:0100625" ], "is_obsolete": "", "replace_id": "" }, "HP:0100819": { "name": [ "intestinal fistula", "intestinal fistula" ], "alt_id": [], "def": "An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.", "synonym": [], "xref": [ "MEDDRA:10022647 \"Intestinal fistula\"", "MSH:D007412", "SNOMEDCT_US:38851006", "UMLS:C0021833" ], "is_a": [ "HP:0002242" ], "is_obsolete": "", "replace_id": "" }, "HP:0100820": { "name": [ "glomerulopathy", "glomerulopathy" ], "alt_id": [], "def": "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.", "synonym": [ [ "diseased glomeruli", "diseased glomerulus" ] ], "xref": [ "SNOMEDCT_US:197679002", "UMLS:C0268731" ], "is_a": [ "HP:0000095" ], "is_obsolete": "", "replace_id": "" }, "HP:0100821": { "name": [ "urethrocele", "urethrocele" ], "alt_id": [], "def": "The prolapse of the female urethra into the vagina.", "synonym": [], "xref": [ "ICD-9:618.03", "SNOMEDCT_US:12068006", "UMLS:C0238502" ], "is_a": [ "HP:0000795", "HP:0100672" ], "is_obsolete": "", "replace_id": "" }, "HP:0100822": { "name": [ "rectocele", "rectocele" ], "alt_id": [], "def": "A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy.", "synonym": [], "xref": [ "ICD-9:618.04", "MSH:D020047", "SNOMEDCT_US:447072005", "SNOMEDCT_US:62730001", "UMLS:C0149771" ], "is_a": [ "HP:0002035", "HP:0100672" ], "is_obsolete": "", "replace_id": "" }, "HP:0100823": { "name": [ "genital hernia", "genital hernia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021962" ], "is_a": [ "HP:0100790" ], "is_obsolete": "", "replace_id": "" }, "HP:0100825": { "name": [ "cheilitis", "cheilitis" ], "alt_id": [], "def": "Inflammation of the lip.", "synonym": [ [ "inflammation of the lips", "inflammation of the lip" ], [ "red and sore lips", "red and sore lip" ] ], "xref": [ "MSH:D002613", "SNOMEDCT_US:7847004", "UMLS:C0007971", "UMLS:C4280288" ], "is_a": [ "HP:0000159" ], "is_obsolete": "", "replace_id": "" }, "HP:0100826": { "name": [ "neoplasm of the nail", "neoplasm of the nail" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the nail.", "synonym": [ [ "nail tumor", "nail tumor" ], [ "nail tumour", "nail tumour" ] ], "xref": [ "NCIT:C3262", "UMLS:C4021961" ], "is_a": [ "HP:0001597", "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0100827": { "name": [ "lymphocytosis", "lymphocytosis" ], "alt_id": [ "HP:0012141" ], "def": "Increase in the number or proportion of lymphocytes in the blood.", "synonym": [ [ "high lymphocyte count", "high lymphocyte count" ] ], "xref": [ "MSH:D008218", "SNOMEDCT_US:67023009", "UMLS:C0024282" ], "is_a": [ "HP:0001974", "HP:0040088" ], "is_obsolete": "", "replace_id": "" }, "HP:0100828": { "name": [ "increased t cell count", "increase t cell count" ], "alt_id": [], "def": "An abnormal increase in the total number of T cells detected in the blood.", "synonym": [ [ "increase in t cell count", "increase in t cell count" ], [ "increase in t cell number", "increase in t cell number" ] ], "xref": [ "UMLS:C4021960" ], "is_a": [ "HP:0011839", "HP:0100827" ], "is_obsolete": "", "replace_id": "" }, "HP:0100829": { "name": [ "galactorrhea", "galactorrhea" ], "alt_id": [], "def": "Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.", "synonym": [ [ "galactorrhoea", "galactorrhoea" ], [ "spontaneous milk flow from breast", "spontaneous milk flow from breast" ] ], "xref": [ "MSH:D005687", "UMLS:C3665358" ], "is_a": [ "HP:0031094" ], "is_obsolete": "", "replace_id": "" }, "HP:0100830": { "name": [ "round ear", "round ear" ], "alt_id": [], "def": "", "synonym": [ [ "round ear", "round ear" ] ], "xref": [ "UMLS:C4021959" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0100831": { "name": [ "abnormality of vitamin k metabolism", "abnormality of vitamin k metabolism" ], "alt_id": [], "def": "Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.", "synonym": [ [ "abnormality of vitamin k metabolism", "abnormality of vitamin k metabolism" ] ], "xref": [ "UMLS:C4021958" ], "is_a": [ "HP:0100508" ], "is_obsolete": "", "replace_id": "" }, "HP:0100832": { "name": [ "vitreous floaters", "vitreous floater" ], "alt_id": [], "def": "Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent.", "synonym": [ [ "eye floaters", "eye floater" ], [ "flitting flies", "flit fly" ], [ "mouches volantes", "mouches volantes" ], [ "myodeopsia", "myodeopsia" ], [ "myodesopsia", "myodesopsia" ], [ "spots in front of eyes", "spot in front of eye" ], [ "vitreous condensations", "vitreous condensation" ], [ "vitreous debris", "vitreous debris" ], [ "vitreous opacities", "vitreous opacity" ], [ "vitreous veils", "vitreous veil" ] ], "xref": [ "SNOMEDCT_US:15013002", "SNOMEDCT_US:162278001", "SNOMEDCT_US:420999000", "UMLS:C0016242", "UMLS:C1720491" ], "is_a": [ "HP:0000504", "HP:0004327" ], "is_obsolete": "", "replace_id": "" }, "HP:0100833": { "name": [ "neoplasm of the small intestine", "neoplasm of the small intestine" ], "alt_id": [], "def": "The presence of a neoplasm of the small intestine.", "synonym": [ [ "small intestine tumor", "small intestine tumor" ], [ "small intestine tumour", "small intestine tumour" ] ], "xref": [ "NCIT:C3262", "SNOMEDCT_US:126832004", "UMLS:C0345832" ], "is_a": [ "HP:0007378" ], "is_obsolete": "", "replace_id": "" }, "HP:0100834": { "name": [ "neoplasm of the large intestine", "neoplasm of the large intestine" ], "alt_id": [], "def": "The presence of a neoplasm of the large intestine.", "synonym": [ [ "large intestine tumor", "large intestine tumor" ], [ "large intestine tumour", "large intestine tumour" ] ], "xref": [ "MSH:D015179", "NCIT:C3262", "SNOMEDCT_US:126837005", "UMLS:C0009404" ], "is_a": [ "HP:0002250", "HP:0007378" ], "is_obsolete": "", "replace_id": "" }, "HP:0100835": { "name": [ "benign neoplasm of the central nervous system", "benign neoplasm of the central nervous system" ], "alt_id": [], "def": "", "synonym": [ [ "benign neoplasm of the cns", "benign neoplasm of the cns" ] ], "xref": [ "SNOMEDCT_US:92048008", "UMLS:C0347509" ], "is_a": [ "HP:0100006" ], "is_obsolete": "", "replace_id": "" }, "HP:0100836": { "name": [ "malignant neoplasm of the central nervous system", "malignant neoplasm of the central nervous system" ], "alt_id": [], "def": "A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.", "synonym": [ [ "malignant neoplasm of the cns", "malignant neoplasm of the cns" ] ], "xref": [ "SNOMEDCT_US:372062007", "UMLS:C0348374" ], "is_a": [ "HP:0100006" ], "is_obsolete": "", "replace_id": "" }, "HP:0100837": { "name": [ "atrophodermia vermiculata", "atrophodermia vermiculata" ], "alt_id": [], "def": "Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions.", "synonym": [ [ "vermiculata atrophoderma", "vermiculata atrophoderma" ] ], "xref": [ "MSH:C537412", "SNOMEDCT_US:400059005", "SNOMEDCT_US:400126005", "UMLS:C0263428" ], "is_a": [ "HP:0000987", "HP:0011799" ], "is_obsolete": "", "replace_id": "" }, "HP:0100838": { "name": [ "recurrent cutaneous abscess formation", "recurrent cutaneous abscess formation" ], "alt_id": [], "def": "An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.", "synonym": [], "xref": [ "UMLS:C4021957" ], "is_a": [ "HP:0002722", "HP:0005406", "HP:0031292" ], "is_obsolete": "", "replace_id": "" }, "HP:0100839": { "name": [ "hepatic agenesis", "hepatic agenesis" ], "alt_id": [], "def": "Absence of the liver owing to a failure of the liver to develop.", "synonym": [ [ "failed liver development", "fail liver development" ], [ "liver agenesis", "liver agenesis" ] ], "xref": [ "SNOMEDCT_US:3650004", "UMLS:C0266258" ], "is_a": [ "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0100840": { "name": [ "aplasia / hypoplasia of the eyebrow", "aplasia / hypoplasia of the eyebrow" ], "alt_id": [], "def": "Absence or underdevelopment of the eyebrow.", "synonym": [ [ "absence of eyebrow", "absence of eyebrow" ], [ "agenesis of eyebrow", "agenesis of eyebrow" ], [ "hypotrophic eyebrow", "hypotrophic eyebrow" ], [ "lack of eyebrow", "lack of eyebrow" ], [ "missing eyebrow", "miss eyebrow" ], [ "sparse or absent eyebrows", "sparse or absent eyebrow" ], [ "sparse to absent eyebrows", "sparse to absent eyebrow" ], [ "sparse / absent eyebrows", "sparse / absent eyebrow" ] ], "xref": [ "UMLS:C1848765", "UMLS:C2266639", "UMLS:C3551430", "UMLS:C4021956" ], "is_a": [ "HP:0000534" ], "is_obsolete": "", "replace_id": "" }, "HP:0100841": { "name": [ "microgastria", "microgastria" ], "alt_id": [], "def": "A developmental anomaly wtih a small tubular or saccular midline stomach.", "synonym": [], "xref": [ "SNOMEDCT_US:83714006", "UMLS:C0266150" ], "is_a": [ "HP:0002577" ], "is_obsolete": "", "replace_id": "" }, "HP:0100842": { "name": [ "septo - optic dysplasia", "septo - optic dysplasia" ], "alt_id": [], "def": "Underdevelopment of the optic nerve and absence of the septum pellucidum.", "synonym": [ [ "de morsier syndrome", "de morsier syndrome" ] ], "xref": [ "MSH:D025962", "SNOMEDCT_US:7611002", "UMLS:C0338503" ], "is_a": [ "HP:0000609", "HP:0001331" ], "is_obsolete": "", "replace_id": "" }, "HP:0100843": { "name": [ "obsolete glioblastoma", "obsolete glioblastoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0012174" }, "HP:0100844": { "name": [ "pancreatic fistula", "pancreatic fistula" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D010185", "SNOMEDCT_US:25803005", "UMLS:C0030290" ], "is_a": [ "HP:0012090" ], "is_obsolete": "", "replace_id": "" }, "HP:0100845": { "name": [ "anaphylactic shock", "anaphylactic shock" ], "alt_id": [], "def": "An acute hypersensitivity reaction due to exposure to a previously encountered antigen.", "synonym": [ [ "anaphylaxis", "anaphylaxis" ] ], "xref": [ "MSH:D000707", "SNOMEDCT_US:39579001", "UMLS:C0002792" ], "is_a": [ "HP:0100326" ], "is_obsolete": "", "replace_id": "" }, "HP:0100847": { "name": [ "palmoplantar pustulosis", "palmoplantar pustulosis" ], "alt_id": [], "def": "A chronic, relapsing, pustular eruption that is localized to the palms and soles.", "synonym": [ [ "palmoplantar pustules", "palmoplantar pustule" ], [ "pustulosis of palms and soles", "pustulosis of palm and sol" ], [ "pustulosis palmaris et plantaris", "pustulosis palmaris et plantaris" ] ], "xref": [ "MEDDRA:10050185 \"Palmoplantar pustulosis\"", "MSH:D011565", "SNOMEDCT_US:27520001", "UMLS:C0030246" ], "is_a": [ "HP:0011356", "HP:0200039" ], "is_obsolete": "", "replace_id": "" }, "HP:0100848": { "name": [ "neoplasm of the male external genitalia", "neoplasm of the male external genitalia" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the male external genitalia.", "synonym": [ [ "neoplasia of the male external genitalia", "neoplasia of the male external genitalia" ] ], "xref": [ "NCIT:C3262", "UMLS:C4020950" ], "is_a": [ "HP:0000032", "HP:0033019" ], "is_obsolete": "", "replace_id": "" }, "HP:0100849": { "name": [ "neoplasm of the scrotum", "neoplasm of the scrotum" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the scrotum.", "synonym": [ [ "neoplasia of the scrotum", "neoplasia of the scrotum" ], [ "scrotum tumor", "scrotum tumor" ], [ "scrotum tumour", "scrotum tumour" ] ], "xref": [ "NCIT:C3262", "SNOMEDCT_US:126905005", "UMLS:C0341790" ], "is_a": [ "HP:0000045", "HP:0100848" ], "is_obsolete": "", "replace_id": "" }, "HP:0100850": { "name": [ "neoplasm of the penis", "neoplasm of the penis" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of the penis.", "synonym": [ [ "neoplasia of the penis", "neoplasia of the penis" ], [ "penis tumor", "penis tumor" ], [ "penis tumour", "penis tumour" ] ], "xref": [ "MSH:D010412", "NCIT:C3262", "SNOMEDCT_US:126896003", "UMLS:C0030849" ], "is_a": [ "HP:0000036", "HP:0100848" ], "is_obsolete": "", "replace_id": "" }, "HP:0100851": { "name": [ "abnormal emotion / affect behavior", "abnormal emotion / affect behavior" ], "alt_id": [], "def": "An abnormality of emotional behaviour.", "synonym": [ [ "abnormal emotion / affect behaviour", "abnormal emotion / affect behaviour" ] ], "xref": [ "UMLS:C4020949" ], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0100852": { "name": [ "abnormal fear / anxiety - related behavior", "abnormal fear / anxiety - related behavior" ], "alt_id": [ "HP:0001296" ], "def": "An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.", "synonym": [ [ "abnormal fear / anxiety - related behaviour", "abnormal fear / anxiety - relate behaviour" ] ], "xref": [ "UMLS:C4018849" ], "is_a": [ "HP:0031466" ], "is_obsolete": "", "replace_id": "" }, "HP:0100853": { "name": [ "hypoplastic areola", "hypoplastic areola" ], "alt_id": [ "HP:0006609" ], "def": "Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.", "synonym": [ [ "hypoplastic areolae", "hypoplastic areola" ] ], "xref": [ "UMLS:C3276032" ], "is_a": [ "HP:0032314" ], "is_obsolete": "", "replace_id": "" }, "HP:0100854": { "name": [ "aplasia of the musculature", "aplasia of the musculature" ], "alt_id": [], "def": "Absence of the musculature.", "synonym": [ [ "absent musculature", "absent musculature" ] ], "xref": [ "UMLS:C4021955" ], "is_a": [ "HP:0001460" ], "is_obsolete": "", "replace_id": "" }, "HP:0100855": { "name": [ "triceps hypoplasia", "triceps hypoplasia" ], "alt_id": [], "def": "Hypoplasia of the triceps muscle.", "synonym": [ [ "small triceps", "small triceps" ], [ "underdeveloped triceps", "underdeveloped triceps" ] ], "xref": [ "UMLS:C4021954" ], "is_a": [ "HP:0009784", "HP:0030239" ], "is_obsolete": "", "replace_id": "" }, "HP:0100856": { "name": [ "poorly ossified vertebrae", "poorly ossify vertebra" ], "alt_id": [], "def": "Decreased ossification of the vertebral bodies.", "synonym": [], "xref": [ "UMLS:C4021953" ], "is_a": [ "HP:0004599" ], "is_obsolete": "", "replace_id": "" }, "HP:0100857": { "name": [ "flat sella turcica", "flat sella turcica" ], "alt_id": [], "def": "An abnormally flat sella turcica.", "synonym": [], "xref": [ "UMLS:C4021952" ], "is_a": [ "HP:0002681" ], "is_obsolete": "", "replace_id": "" }, "HP:0100858": { "name": [ "dilatation of celiac artery", "dilatation of celiac artery" ], "alt_id": [], "def": "Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.", "synonym": [ [ "celiac artery aneurysm", "celiac artery aneurysm" ], [ "coeliac artery aneurysm", "coeliac artery aneurysm" ], [ "dilatation of coeliac artery", "dilatation of coeliac artery" ] ], "xref": [ "SNOMEDCT_US:111290000", "UMLS:C0264969" ], "is_a": [ "HP:0002636" ], "is_obsolete": "", "replace_id": "" }, "HP:0100859": { "name": [ "dilatation of superior mesenteric artery", "dilatation of superior mesenteric artery" ], "alt_id": [], "def": "Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery .", "synonym": [ [ "superior mesenteric artery aneurysm", "superior mesenteric artery aneurysm" ] ], "xref": [ "SNOMEDCT_US:65498003", "UMLS:C0264974" ], "is_a": [ "HP:0011934" ], "is_obsolete": "", "replace_id": "" }, "HP:0100860": { "name": [ "dilatation of inferior mesenteric artery", "dilatation of inferior mesenteric artery" ], "alt_id": [], "def": "Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery .", "synonym": [ [ "inferior mesenteric artery aneurysm", "inferior mesenteric artery aneurysm" ] ], "xref": [ "SNOMEDCT_US:195289005", "UMLS:C0340625" ], "is_a": [ "HP:0011934" ], "is_obsolete": "", "replace_id": "" }, "HP:0100861": { "name": [ "sclerotic vertebral body", "sclerotic vertebral body" ], "alt_id": [ "HP:0004578" ], "def": "Increase in bone density of the vertebral body.", "synonym": [ [ "vertebral body sclerosis", "vertebral body sclerosis" ] ], "xref": [ "UMLS:C4021951" ], "is_a": [ "HP:0003468" ], "is_obsolete": "", "replace_id": "" }, "HP:0100862": { "name": [ "aplasia of the femoral head", "aplasia of the femoral head" ], "alt_id": [], "def": "", "synonym": [ [ "absent femoral head", "absent femoral head" ] ], "xref": [ "UMLS:C4021950" ], "is_a": [ "HP:0009108" ], "is_obsolete": "", "replace_id": "" }, "HP:0100863": { "name": [ "aplasia of the femoral neck", "aplasia of the femoral neck" ], "alt_id": [], "def": "", "synonym": [ [ "absent neck of thighbone", "absent neck of thighbone" ] ], "xref": [ "UMLS:C4021949" ], "is_a": [ "HP:0009108" ], "is_obsolete": "", "replace_id": "" }, "HP:0100864": { "name": [ "short femoral neck", "short femoral neck" ], "alt_id": [ "HP:0003032", "HP:0008779", "HP:0008793" ], "def": "An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).", "synonym": [ [ "hypoplasia of the femoral neck", "hypoplasia of the femoral neck" ], [ "hypoplastic femoral neck", "hypoplastic femoral neck" ], [ "short femoral necks", "short femoral neck" ], [ "short neck of thighbone", "short neck of thighbone" ] ], "xref": [ "UMLS:C1836184" ], "is_a": [ "HP:0003367", "HP:0009108" ], "is_obsolete": "", "replace_id": "" }, "HP:0100865": { "name": [ "broad ischia", "broad ischia" ], "alt_id": [ "HP:0008814" ], "def": "Increased width of the ischium, which forms the lower and back part of the hip bone.", "synonym": [], "xref": [ "UMLS:C1836868" ], "is_a": [ "HP:0003174" ], "is_obsolete": "", "replace_id": "" }, "HP:0100866": { "name": [ "short iliac bones", "short iliac bone" ], "alt_id": [], "def": "Underdevelopment of the iliac bones.", "synonym": [ [ "short pelvis bones", "short pelvis bone" ] ], "xref": [ "UMLS:C1849063" ], "is_a": [ "HP:0000946" ], "is_obsolete": "", "replace_id": "" }, "HP:0100867": { "name": [ "duodenal stenosis", "duodenal stenosis" ], "alt_id": [ "HP:0005205", "HP:0010449" ], "def": "The narrowing or partial blockage of a portion of the duodenum.", "synonym": [ [ "duodenal stenosis / atresia", "duodenal stenosis / atresia" ] ], "xref": [ "MEDDRA:10050094 \"Duodenal stenosis\"", "MSH:C535720", "SNOMEDCT_US:73120006", "UMLS:C0238093", "UMLS:C1860791" ], "is_a": [ "HP:0002246", "HP:0012848" ], "is_obsolete": "", "replace_id": "" }, "HP:0100869": { "name": [ "palmar telangiectasia", "palmar telangiectasia" ], "alt_id": [ "HP:0007399" ], "def": "The presence of telangiectases on the skin of palm of hand.", "synonym": [ [ "telangiectases of palms and soles", "telangiectases of palm and sol" ], [ "teleangiectases of palms", "teleangiectases of palm" ] ], "xref": [ "UMLS:C4020948" ], "is_a": [ "HP:0040211", "HP:0100585" ], "is_obsolete": "", "replace_id": "" }, "HP:0100870": { "name": [ "plantar telangiectasia", "plantar telangiectasia" ], "alt_id": [], "def": "Telangiectases (small dilated blood vessels) located on the skin of sole of foot.", "synonym": [ [ "plantar teleangiectasia", "plantar teleangiectasia" ], [ "telangiectases of soles", "telangiectases of sol" ], [ "teleangiectases of soles", "teleangiectases of sol" ] ], "xref": [ "UMLS:C4020947" ], "is_a": [ "HP:0100585", "HP:0100872" ], "is_obsolete": "", "replace_id": "" }, "HP:0100871": { "name": [ "abnormality of the palm", "abnormality of the palm" ], "alt_id": [], "def": "An abnormality of the palm, that is, of the front of the hand.", "synonym": [ [ "abnormality of the palm", "abnormality of the palm" ] ], "xref": [ "UMLS:C4021948" ], "is_a": [ "HP:0001155" ], "is_obsolete": "", "replace_id": "" }, "HP:0100872": { "name": [ "abnormality of the plantar skin of foot", "abnormality of the plantar skin of foot" ], "alt_id": [ "HP:0010613" ], "def": "An abnormality of the plantar part of foot, that is of the soles of the feet.", "synonym": [ [ "minor feet anomalies", "minor foot anomaly" ] ], "xref": [ "UMLS:C4020946" ], "is_a": [ "HP:0001760", "HP:0011356" ], "is_obsolete": "", "replace_id": "" }, "HP:0100874": { "name": [ "thick hair", "thick hair" ], "alt_id": [], "def": "Increased density of hairs, i.e., and elevated number of hairs per unit area.", "synonym": [ [ "increased follicular density", "increase follicular density" ], [ "increased hair density", "increase hair density" ], [ "thick hair", "thick hair" ] ], "xref": [ "UMLS:C4073184" ], "is_a": [ "HP:0011362" ], "is_obsolete": "", "replace_id": "" }, "HP:0100875": { "name": [ "hemimacroglossia", "hemimacroglossia" ], "alt_id": [], "def": "Increased length and width of one half of the tounge.", "synonym": [ [ "hemiglossal hyperplasia", "hemiglossal hyperplasia" ], [ "hemiglossal hypertrophy", "hemiglossal hypertrophy" ], [ "hyperplasia of half of the tongue", "hyperplasia of half of the tongue" ], [ "hypertrophy of half of the tongue", "hypertrophy of half of the tongue" ], [ "increased size of half of the tongue", "increase size of half of the tongue" ], [ "large half of tongue", "large half of tongue" ] ], "xref": [ "UMLS:C4021947", "UMLS:C4280287" ], "is_a": [ "HP:0000158" ], "is_obsolete": "", "replace_id": "" }, "HP:0100876": { "name": [ "infra - orbital crease", "infra - orbital crease" ], "alt_id": [ "HP:0007796" ], "def": "Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma.", "synonym": [ [ "crease in skin under the eye", "crease in skin under the eye" ], [ "groove in skin under the eye", "groove in skin under the eye" ], [ "infraorbital crease", "infraorbital crease" ], [ "infraorbital creases", "infraorbital crease" ], [ "underorbital skin creases", "underorbital skin crease" ] ], "xref": [ "UMLS:C1857280" ], "is_a": [ "HP:0000606" ], "is_obsolete": "", "replace_id": "" }, "HP:0100877": { "name": [ "renal diverticulum", "renal diverticulum" ], "alt_id": [], "def": "Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system.", "synonym": [ [ "caliceal diverticulum", "caliceal diverticulum" ], [ "pelvic diverticulum", "pelvic diverticulum" ], [ "renal pelvic diverticulum", "renal pelvic diverticulum" ] ], "xref": [ "SNOMEDCT_US:433036004", "UMLS:C2315541" ], "is_a": [ "HP:0000107", "HP:0004742" ], "is_obsolete": "", "replace_id": "" }, "HP:0100878": { "name": [ "enlarged uterus", "enlarge uterus" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged uterus", "enlarge uterus" ] ], "xref": [ "SNOMEDCT_US:198319004", "UMLS:C0151994" ], "is_a": [ "HP:0031105" ], "is_obsolete": "", "replace_id": "" }, "HP:0100879": { "name": [ "enlarged ovaries", "enlarge ovary" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged ovaries", "enlarge ovary" ] ], "xref": [ "SNOMEDCT_US:66998000", "UMLS:C0392039" ], "is_a": [ "HP:0031065" ], "is_obsolete": "", "replace_id": "" }, "HP:0100880": { "name": [ "nephrogenic rest", "nephrogenic rest" ], "alt_id": [], "def": "Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.", "synonym": [], "xref": [ "SNOMEDCT_US:405933007", "UMLS:C1320468" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0100881": { "name": [ "congenital mesoblastic nephroma", "congenital mesoblastic nephroma" ], "alt_id": [], "def": "Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue.", "synonym": [], "xref": [ "MSH:D018201", "UMLS:C1332965" ], "is_a": [ "HP:0003549", "HP:0011794" ], "is_obsolete": "", "replace_id": "" }, "HP:0100882": { "name": [ "fibrous hamartoma", "fibrous hamartoma" ], "alt_id": [], "def": "A rare, benign soft tissue tumor that typically occurs within the first two years of life.", "synonym": [ [ "fibrous hamartoma of infancy", "fibrous hamartoma of infancy" ] ], "xref": [ "SNOMEDCT_US:22257004", "SNOMEDCT_US:56364004", "UMLS:C0265979" ], "is_a": [ "HP:0010566" ], "is_obsolete": "", "replace_id": "" }, "HP:0100883": { "name": [ "chorangioma", "chorangioma" ], "alt_id": [], "def": "Hamartoma-like growth in the placenta consisting of blood vessels.", "synonym": [ [ "placental hamartoma", "placental hamartoma" ] ], "xref": [ "MSH:D006391", "SNOMEDCT_US:2099007", "SNOMEDCT_US:237268002", "SNOMEDCT_US:699948001", "UMLS:C0677608" ], "is_a": [ "HP:0010566", "HP:0100767" ], "is_obsolete": "", "replace_id": "" }, "HP:0100884": { "name": [ "compensatory scoliosis", "compensatory scoliosis" ], "alt_id": [], "def": "A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time.", "synonym": [], "xref": [ "SNOMEDCT_US:203645000", "UMLS:C0343292" ], "is_a": [ "HP:0002650" ], "is_obsolete": "", "replace_id": "" }, "HP:0100885": { "name": [ "lateral venous anomaly", "lateral venous anomaly" ], "alt_id": [], "def": "Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life.", "synonym": [ [ "lateral marginal vein of servelle", "lateral marginal vein of servelle" ], [ "vein of servelle", "vein of servelle" ] ], "xref": [ "UMLS:C4020945" ], "is_a": [ "HP:0001015" ], "is_obsolete": "", "replace_id": "" }, "HP:0100886": { "name": [ "abnormality of globe location", "abnormality of globe location" ], "alt_id": [], "def": "An abnormality in the placement of the ocular globe (eyeball).", "synonym": [ [ "abnormality of eyeball location", "abnormality of eyeball location" ], [ "abnormality of eyeball position", "abnormality of eyeball position" ], [ "abnormality of globe position", "abnormality of globe position" ] ], "xref": [ "UMLS:C4021946" ], "is_a": [ "HP:0012372" ], "is_obsolete": "", "replace_id": "" }, "HP:0100887": { "name": [ "abnormality of globe size", "abnormality of globe size" ], "alt_id": [ "HP:0010725" ], "def": "An abnormality in the size of the ocular globe (eyeball).", "synonym": [ [ "abnormality of eyeball size", "abnormality of eyeball size" ], [ "eye size difference", "eye size difference" ] ], "xref": [ "UMLS:C4021945" ], "is_a": [ "HP:0012372" ], "is_obsolete": "", "replace_id": "" }, "HP:0100888": { "name": [ "interdigital loops", "interdigital loop" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021944" ], "is_a": [ "HP:0007477" ], "is_obsolete": "", "replace_id": "" }, "HP:0100889": { "name": [ "abnormality of the ductus choledochus", "abnormality of the ductus choledochus" ], "alt_id": [], "def": "An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.", "synonym": [ [ "abnormality of the common bile duct", "abnormality of the common bile duct" ] ], "xref": [ "UMLS:C4020944" ], "is_a": [ "HP:0012440" ], "is_obsolete": "", "replace_id": "" }, "HP:0100890": { "name": [ "cyst of the ductus choledochus", "cyst of the ductus choledochus" ], "alt_id": [], "def": "", "synonym": [ [ "choledochal cyst", "choledochal cyst" ] ], "xref": [ "MSH:D015529", "SNOMEDCT_US:397868007", "SNOMEDCT_US:398197009", "SNOMEDCT_US:440471007", "UMLS:C0008340" ], "is_a": [ "HP:0100889" ], "is_obsolete": "", "replace_id": "" }, "HP:0100891": { "name": [ "bifid xiphoid process", "bifid xiphoid process" ], "alt_id": [], "def": "A cleft of the xiphoid process of the sternum.", "synonym": [ [ "bifid xiphisternum", "bifid xiphisternum" ] ], "xref": [ "UMLS:C4020943" ], "is_a": [ "HP:0100892" ], "is_obsolete": "", "replace_id": "" }, "HP:0100892": { "name": [ "abnormality of the xiphoid process", "abnormality of the xiphoid process" ], "alt_id": [], "def": "An abnormality of the xiphoid process of the sternum.", "synonym": [], "xref": [ "UMLS:C4021943" ], "is_a": [ "HP:0000766" ], "is_obsolete": "", "replace_id": "" }, "HP:0100893": { "name": [ "prominent xiphoid process", "prominent xiphoid process" ], "alt_id": [], "def": "Increased prominence of the xiphoid process of the sternum.", "synonym": [ [ "prominent xiphisternum", "prominent xiphisternum" ] ], "xref": [ "UMLS:C4020942" ], "is_a": [ "HP:0100892" ], "is_obsolete": "", "replace_id": "" }, "HP:0100894": { "name": [ "broad xiphoid process", "broad xiphoid process" ], "alt_id": [], "def": "Increased side-to-side width of the xiphoid process of the sternum.", "synonym": [ [ "broad xiphisternum", "broad xiphisternum" ] ], "xref": [ "UMLS:C4020901" ], "is_a": [ "HP:0100892" ], "is_obsolete": "", "replace_id": "" }, "HP:0100896": { "name": [ "rectal polyposis", "rectal polyposis" ], "alt_id": [ "HP:0100897" ], "def": "The presence of multiple rectal hyperplastic/adenomatous polyps.", "synonym": [ [ "multiple rectal polyps", "multiple rectal polyp" ], [ "rectal polyps", "rectal polyp" ] ], "xref": [ "SNOMEDCT_US:39772007", "UMLS:C0034887" ], "is_a": [ "HP:0030255", "HP:0100743" ], "is_obsolete": "", "replace_id": "" }, "HP:0100898": { "name": [ "connective tissue nevi", "connective tissue nevus" ], "alt_id": [], "def": "Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.", "synonym": [], "xref": [ "MSH:C562737", "SNOMEDCT_US:22858003", "SNOMEDCT_US:400091006", "UMLS:C0334083" ], "is_a": [ "HP:0003549", "HP:0003764" ], "is_obsolete": "", "replace_id": "" }, "HP:0100899": { "name": [ "sclerosis of finger phalanx", "sclerosis of finger phalanx" ], "alt_id": [], "def": "An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in the finger bone", "increase bone density in the finger bone" ], [ "sclerosis of the phalanges of the hand", "sclerosis of the phalanx of the hand" ] ], "xref": [ "UMLS:C4020941" ], "is_a": [ "HP:0004054", "HP:0005918" ], "is_obsolete": "", "replace_id": "" }, "HP:0100900": { "name": [ "sclerosis of the distal phalanx of the 2nd finger", "sclerosis of the distal phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the outermost bone of the index finger", "increase bone density in the outermost bone of the index finger" ] ], "xref": [ "UMLS:C4021942" ], "is_a": [ "HP:0100915", "HP:0100918" ], "is_obsolete": "", "replace_id": "" }, "HP:0100901": { "name": [ "sclerosis of the distal phalanx of the 3rd finger", "sclerosis of the distal phalanx of the 3rd finger" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the outermost bone of the middle finger", "increase bone density in the outermost bone of the middle finger" ] ], "xref": [ "UMLS:C4021941" ], "is_a": [ "HP:0100915", "HP:0100919" ], "is_obsolete": "", "replace_id": "" }, "HP:0100902": { "name": [ "sclerosis of the distal phalanx of the 4th finger", "sclerosis of the distal phalanx of the 4th finger" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the outermost bone of the ring finger", "increase bone density in the outermost bone of the ring finger" ] ], "xref": [ "UMLS:C4021940" ], "is_a": [ "HP:0100915", "HP:0100920" ], "is_obsolete": "", "replace_id": "" }, "HP:0100903": { "name": [ "sclerosis of the distal phalanx of the 5th finger", "sclerosis of the distal phalanx of the 5th finger" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the outermost little finger bone", "increase bone density in the outermost little finger bone" ], [ "increased bone density in the outermost pinkie finger bone", "increase bone density in the outermost pinkie finger bone" ], [ "increased bone density in the outermost pinky finger bone", "increase bone density in the outermost pinky finger bone" ] ], "xref": [ "UMLS:C4021939" ], "is_a": [ "HP:0100915", "HP:0100921" ], "is_obsolete": "", "replace_id": "" }, "HP:0100904": { "name": [ "sclerosis of the middle phalanx of the 2nd finger", "sclerosis of the middle phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the middle bone of the index finger", "increase bone density in the middle bone of the index finger" ] ], "xref": [ "UMLS:C4021938" ], "is_a": [ "HP:0100916", "HP:0100918" ], "is_obsolete": "", "replace_id": "" }, "HP:0100905": { "name": [ "sclerosis of the middle phalanx of the 3rd finger", "sclerosis of the middle phalanx of the 3rd finger" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the middle bone of the middle finger", "increase bone density in the middle bone of the middle finger" ] ], "xref": [ "UMLS:C4021937" ], "is_a": [ "HP:0100916", "HP:0100919" ], "is_obsolete": "", "replace_id": "" }, "HP:0100906": { "name": [ "sclerosis of the middle phalanx of the 4th finger", "sclerosis of the middle phalanx of the 4th finger" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the middle bone of the ring finger", "increase bone density in the middle bone of the ring finger" ] ], "xref": [ "UMLS:C4021936" ], "is_a": [ "HP:0100916", "HP:0100920" ], "is_obsolete": "", "replace_id": "" }, "HP:0100907": { "name": [ "sclerosis of the middle phalanx of the 5th finger", "sclerosis of the middle phalanx of the 5th finger" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the middle bone of the little finger", "increase bone density in the middle bone of the little finger" ], [ "increased bone density in the middle bone of the pinkie finger", "increase bone density in the middle bone of the pinkie finger" ], [ "increased bone density in the middle bone of the pinky finger", "increase bone density in the middle bone of the pinky finger" ] ], "xref": [ "UMLS:C4021935" ], "is_a": [ "HP:0100916", "HP:0100921" ], "is_obsolete": "", "replace_id": "" }, "HP:0100908": { "name": [ "sclerosis of the proximal phalanx of the 2nd finger", "sclerosis of the proximal phalanx of the 2nd finger" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the innermost bone of the index finger", "increase bone density in the innermost bone of the index finger" ] ], "xref": [ "UMLS:C4021934" ], "is_a": [ "HP:0100917", "HP:0100918" ], "is_obsolete": "", "replace_id": "" }, "HP:0100909": { "name": [ "sclerosis of the proximal phalanx of the 3rd finger", "sclerosis of the proximal phalanx of the 3rd finger" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in innermost bone of the middle finger", "increase bone density in innermost bone of the middle finger" ] ], "xref": [ "UMLS:C4021933" ], "is_a": [ "HP:0100917", "HP:0100919" ], "is_obsolete": "", "replace_id": "" }, "HP:0100910": { "name": [ "sclerosis of the proximal phalanx of the 4th finger", "sclerosis of the proximal phalanx of the 4th finger" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the innermost bone of the ring finger", "increase bone density in the innermost bone of the ring finger" ] ], "xref": [ "UMLS:C4021932" ], "is_a": [ "HP:0100917", "HP:0100920" ], "is_obsolete": "", "replace_id": "" }, "HP:0100911": { "name": [ "sclerosis of the proximal phalanx of the 5th finger", "sclerosis of the proximal phalanx of the 5th finger" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in innermost little finger bone", "increase bone density in innermost little finger bone" ], [ "increased bone density in innermost pinkie finger bone", "increase bone density in innermost pinkie finger bone" ], [ "increased bone density in innermost pinky finger bone", "increase bone density in innermost pinky finger bone" ] ], "xref": [ "UMLS:C4021931" ], "is_a": [ "HP:0100917", "HP:0100921" ], "is_obsolete": "", "replace_id": "" }, "HP:0100912": { "name": [ "sclerosis of the distal phalanx of the thumb", "sclerosis of the distal phalanx of the thumb" ], "alt_id": [], "def": "An elevation of bone density in the distal phalanx of the thumb.", "synonym": [ [ "increased bone density in the outermost bone of the thumb", "increase bone density in the outermost bone of the thumb" ] ], "xref": [ "UMLS:C4021930" ], "is_a": [ "HP:0100915", "HP:0100922" ], "is_obsolete": "", "replace_id": "" }, "HP:0100913": { "name": [ "sclerosis of the proximal phalanx of the thumb", "sclerosis of the proximal phalanx of the thumb" ], "alt_id": [], "def": "An elevation of bone density in the proximal phalanx of the thumb.", "synonym": [ [ "increased bone density in the innermost bone of the thumb", "increase bone density in the innermost bone of the thumb" ] ], "xref": [ "UMLS:C4021929" ], "is_a": [ "HP:0100916", "HP:0100922" ], "is_obsolete": "", "replace_id": "" }, "HP:0100914": { "name": [ "sclerosis of the 1st metacarpal", "sclerosis of the 1st metacarpal" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in 1st long bone of hand", "increase bone density in 1st long bone of hand" ] ], "xref": [ "UMLS:C4021928" ], "is_a": [ "HP:0100917" ], "is_obsolete": "", "replace_id": "" }, "HP:0100915": { "name": [ "sclerosis of distal finger phalanx", "sclerosis of distal finger phalanx" ], "alt_id": [], "def": "An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in outermost finger bone", "increase bone density in outermost finger bone" ], [ "sclerosis of the distal phalanges of the hand", "sclerosis of the distal phalanx of the hand" ] ], "xref": [ "UMLS:C4020940" ], "is_a": [ "HP:0009832", "HP:0100899" ], "is_obsolete": "", "replace_id": "" }, "HP:0100916": { "name": [ "sclerosis of middle finger phalanx", "sclerosis of middle finger phalanx" ], "alt_id": [], "def": "An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in middle finger bone of hand", "increase bone density in middle finger bone of hand" ], [ "sclerosis of the middle phalanges of the hand", "sclerosis of the middle phalanx of the hand" ] ], "xref": [ "UMLS:C4020939" ], "is_a": [ "HP:0009833", "HP:0100899" ], "is_obsolete": "", "replace_id": "" }, "HP:0100917": { "name": [ "sclerosis of proximal finger phalanx", "sclerosis of proximal finger phalanx" ], "alt_id": [], "def": "An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in innermost finger bone", "increase bone density in innermost finger bone" ], [ "sclerosis of the proximal phalanges of the hand", "sclerosis of the proximal phalanx of the hand" ] ], "xref": [ "UMLS:C4020938" ], "is_a": [ "HP:0009834", "HP:0100899" ], "is_obsolete": "", "replace_id": "" }, "HP:0100918": { "name": [ "sclerosis of 2nd finger phalanx", "sclerosis of 2nd finger phalanx" ], "alt_id": [], "def": "An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in 2nd finger bone", "increase bone density in 2nd finger bone" ], [ "sclerosis of the phalanges of the 2nd finger", "sclerosis of the phalanx of the 2nd finger" ] ], "xref": [ "UMLS:C4020937" ], "is_a": [ "HP:0009541", "HP:0100899" ], "is_obsolete": "", "replace_id": "" }, "HP:0100919": { "name": [ "sclerosis of 3rd finger phalanx", "sclerosis of 3rd finger phalanx" ], "alt_id": [], "def": "An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in middle finger bone", "increase bone density in middle finger bone" ], [ "sclerosis of the phalanges of the 3rd finger", "sclerosis of the phalanx of the 3rd finger" ] ], "xref": [ "UMLS:C4020936" ], "is_a": [ "HP:0009316", "HP:0100899" ], "is_obsolete": "", "replace_id": "" }, "HP:0100920": { "name": [ "sclerosis of 4th finger phalanx", "sclerosis of 4th finger phalanx" ], "alt_id": [], "def": "An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in ring finger bone", "increase bone density in ring finger bone" ], [ "sclerosis of the phalanges of the 4th finger", "sclerosis of the phalanx of the 4th finger" ] ], "xref": [ "UMLS:C4020935" ], "is_a": [ "HP:0009172", "HP:0100899" ], "is_obsolete": "", "replace_id": "" }, "HP:0100921": { "name": [ "sclerosis of 5th finger phalanx", "sclerosis of 5th finger phalanx" ], "alt_id": [], "def": "An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in little finger bone", "increase bone density in little finger bone" ], [ "increased bone density in pinkie finger bone", "increase bone density in pinkie finger bone" ], [ "increased bone density in pinky finger bone", "increase bone density in pinky finger bone" ], [ "sclerosis of the phalanges of the 5th finger", "sclerosis of the phalanx of the 5th finger" ] ], "xref": [ "UMLS:C4020934" ], "is_a": [ "HP:0004213", "HP:0100899" ], "is_obsolete": "", "replace_id": "" }, "HP:0100922": { "name": [ "sclerosis of thumb phalanx", "sclerosis of thumb phalanx" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in thumb bone", "increase bone density in thumb bone" ], [ "sclerosis of the phalanges of the thumb", "sclerosis of the phalanx of the thumb" ] ], "xref": [ "UMLS:C4020933" ], "is_a": [ "HP:0009602", "HP:0100899" ], "is_obsolete": "", "replace_id": "" }, "HP:0100923": { "name": [ "clavicular sclerosis", "clavicular sclerosis" ], "alt_id": [ "HP:0006648" ], "def": "An increase in bone density within the clavicle.", "synonym": [ [ "increased bone density in collarbone", "increase bone density in collarbone" ], [ "osteosclerosis of the clavicle", "osteosclerosis of the clavicle" ], [ "osteosclerosis of the clavicles", "osteosclerosis of the clavicle" ] ], "xref": [ "UMLS:C3554669" ], "is_a": [ "HP:0000889", "HP:0011001" ], "is_obsolete": "", "replace_id": "" }, "HP:0100924": { "name": [ "sclerosis of toe phalanx", "sclerosis of toe phalanx" ], "alt_id": [], "def": "An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in the toe bone", "increase bone density in the toe bone" ], [ "sclerosis of the phalanges of the toes", "sclerosis of the phalanx of the toe" ] ], "xref": [ "UMLS:C4020932" ], "is_a": [ "HP:0010161", "HP:0100925" ], "is_obsolete": "", "replace_id": "" }, "HP:0100925": { "name": [ "sclerosis of foot bone", "sclerosis of foot bone" ], "alt_id": [], "def": "An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in foot bone", "increase bone density in foot bone" ], [ "sclerosis of bones of the feet", "sclerosis of bone of the foot" ] ], "xref": [ "UMLS:C4020931" ], "is_a": [ "HP:0011001" ], "is_obsolete": "", "replace_id": "" }, "HP:0100926": { "name": [ "sclerosis of 2nd toe phalanx", "sclerosis of 2nd toe phalanx" ], "alt_id": [], "def": "An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in 2nd toe bone", "increase bone density in 2nd toe bone" ], [ "sclerosis of the phalanges of the 2nd toe", "sclerosis of the phalanx of the 2nd toe" ] ], "xref": [ "UMLS:C4020930" ], "is_a": [ "HP:0100924" ], "is_obsolete": "", "replace_id": "" }, "HP:0100927": { "name": [ "sclerosis of 3rd toe phalanx", "sclerosis of 3rd toe phalanx" ], "alt_id": [], "def": "An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in 3rd toe bone", "increase bone density in 3rd toe bone" ], [ "sclerosis of the phalanges of the 3rd toe", "sclerosis of the phalanx of the 3rd toe" ] ], "xref": [ "UMLS:C4020929" ], "is_a": [ "HP:0100924" ], "is_obsolete": "", "replace_id": "" }, "HP:0100928": { "name": [ "sclerosis of 4th toe phalanx", "sclerosis of 4th toe phalanx" ], "alt_id": [], "def": "An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in 4th toe bone", "increase bone density in 4th toe bone" ], [ "sclerosis of the phalanges of the 4th toe", "sclerosis of the phalanx of the 4th toe" ] ], "xref": [ "UMLS:C4020928" ], "is_a": [ "HP:0100924" ], "is_obsolete": "", "replace_id": "" }, "HP:0100929": { "name": [ "sclerosis of 5th toe phalanx", "sclerosis of 5th toe phalanx" ], "alt_id": [], "def": "An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in little toe bone", "increase bone density in little toe bone" ], [ "increased bone density in pinkie toe bone", "increase bone density in pinkie toe bone" ], [ "increased bone density in pinky toe bone", "increase bone density in pinky toe bone" ], [ "sclerosis of the phalanges of the 5th toe", "sclerosis of the phalanx of the 5th toe" ] ], "xref": [ "UMLS:C4020927" ], "is_a": [ "HP:0100924" ], "is_obsolete": "", "replace_id": "" }, "HP:0100930": { "name": [ "sclerosis of hallux phalanx", "sclerosis of hallux phalanx" ], "alt_id": [], "def": "An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in big toe bone", "increase bone density in big toe bone" ], [ "sclerosis of the phalanges of the hallux", "sclerosis of the phalanx of the hallux" ] ], "xref": [ "UMLS:C4020926" ], "is_a": [ "HP:0100924" ], "is_obsolete": "", "replace_id": "" }, "HP:0100931": { "name": [ "sclerosis of the proximal phalanx of the 2nd toe", "sclerosis of the proximal phalanx of the 2nd toe" ], "alt_id": [], "def": "An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in the innermost bone of the 2nd toe", "increase bone density in the innermost bone of the 2nd toe" ] ], "xref": [ "UMLS:C4021927" ], "is_a": [ "HP:0100926", "HP:0100946" ], "is_obsolete": "", "replace_id": "" }, "HP:0100932": { "name": [ "sclerosis of the proximal phalanx of the 3rd toe", "sclerosis of the proximal phalanx of the 3rd toe" ], "alt_id": [], "def": "An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in the innermost bone of the 3rd toe", "increase bone density in the innermost bone of the 3rd toe" ] ], "xref": [ "UMLS:C4021926" ], "is_a": [ "HP:0100927", "HP:0100946" ], "is_obsolete": "", "replace_id": "" }, "HP:0100933": { "name": [ "sclerosis of the proximal phalanx of the 4th toe", "sclerosis of the proximal phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the innermost bone of the 4th toe", "increase bone density in the innermost bone of the 4th toe" ] ], "xref": [ "UMLS:C4021925" ], "is_a": [ "HP:0100928", "HP:0100946" ], "is_obsolete": "", "replace_id": "" }, "HP:0100934": { "name": [ "sclerosis of the proximal phalanx of the 5th toe", "sclerosis of the proximal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the innermost bone of the little toe", "increase bone density in the innermost bone of the little toe" ], [ "increased bone density in the innermost bone of the pinkie toe", "increase bone density in the innermost bone of the pinkie toe" ], [ "increased bone density in the innermost bone of the pinky toe", "increase bone density in the innermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4021924" ], "is_a": [ "HP:0100929", "HP:0100946" ], "is_obsolete": "", "replace_id": "" }, "HP:0100935": { "name": [ "sclerosis of the middle phalanx of the 2nd toe", "sclerosis of the middle phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the middle bone of the 2nd toe", "increase bone density in the middle bone of the 2nd toe" ] ], "xref": [ "UMLS:C4021923" ], "is_a": [ "HP:0100926", "HP:0100947" ], "is_obsolete": "", "replace_id": "" }, "HP:0100936": { "name": [ "sclerosis of the middle phalanx of the 3rd toe", "sclerosis of the middle phalanx of the 3rd toe" ], "alt_id": [], "def": "An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in the middle bone of the 3rd toe", "increase bone density in the middle bone of the 3rd toe" ] ], "xref": [ "UMLS:C4021922" ], "is_a": [ "HP:0100927", "HP:0100947" ], "is_obsolete": "", "replace_id": "" }, "HP:0100937": { "name": [ "sclerosis of the middle phalanx of the 4th toe", "sclerosis of the middle phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the middle bone of the 4th toe", "increase bone density in the middle bone of the 4th toe" ] ], "xref": [ "UMLS:C4021921" ], "is_a": [ "HP:0100928", "HP:0100947" ], "is_obsolete": "", "replace_id": "" }, "HP:0100938": { "name": [ "sclerosis of the middle phalanx of the 5th toe", "sclerosis of the middle phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the middle bone of the little toe", "increase bone density in the middle bone of the little toe" ], [ "increased bone density in the middle bone of the pinkie toe", "increase bone density in the middle bone of the pinkie toe" ], [ "increased bone density in the middle bone of the pinky toe", "increase bone density in the middle bone of the pinky toe" ] ], "xref": [ "UMLS:C4021920" ], "is_a": [ "HP:0100929", "HP:0100947" ], "is_obsolete": "", "replace_id": "" }, "HP:0100939": { "name": [ "sclerosis of the distal phalanx of the 2nd toe", "sclerosis of the distal phalanx of the 2nd toe" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the outermost bone of the 2nd toe", "increase bone density in the outermost bone of the 2nd toe" ] ], "xref": [ "UMLS:C4021919" ], "is_a": [ "HP:0010356", "HP:0100926", "HP:0100948" ], "is_obsolete": "", "replace_id": "" }, "HP:0100940": { "name": [ "sclerosis of the distal phalanx of the 3rd toe", "sclerosis of the distal phalanx of the 3rd toe" ], "alt_id": [], "def": "An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in the outermost bone of the 3rd toe", "increase bone density in the outermost bone of the 3rd toe" ] ], "xref": [ "UMLS:C4021918" ], "is_a": [ "HP:0100927", "HP:0100948" ], "is_obsolete": "", "replace_id": "" }, "HP:0100941": { "name": [ "sclerosis of the distal phalanx of the 4th toe", "sclerosis of the distal phalanx of the 4th toe" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the outermost bone of the 4th toe", "increase bone density in the outermost bone of the 4th toe" ] ], "xref": [ "UMLS:C4021917" ], "is_a": [ "HP:0100928", "HP:0100948" ], "is_obsolete": "", "replace_id": "" }, "HP:0100942": { "name": [ "sclerosis of the distal phalanx of the 5th toe", "sclerosis of the distal phalanx of the 5th toe" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the outermost bone of the little toe", "increase bone density in the outermost bone of the little toe" ], [ "increased bone density in the outermost bone of the pinkie toe", "increase bone density in the outermost bone of the pinkie toe" ], [ "increased bone density in the outermost bone of the pinky toe", "increase bone density in the outermost bone of the pinky toe" ] ], "xref": [ "UMLS:C4021916" ], "is_a": [ "HP:0100929", "HP:0100948" ], "is_obsolete": "", "replace_id": "" }, "HP:0100943": { "name": [ "sclerosis of the proximal phalanx of the hallux", "sclerosis of the proximal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the innermost bone of the big toe", "increase bone density in the innermost bone of the big toe" ] ], "xref": [ "UMLS:C4021915" ], "is_a": [ "HP:0100930", "HP:0100947" ], "is_obsolete": "", "replace_id": "" }, "HP:0100944": { "name": [ "sclerosis of the distal phalanx of the hallux", "sclerosis of the distal phalanx of the hallux" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the outermost bone of the big toe", "increase bone density in the outermost bone of the big toe" ] ], "xref": [ "UMLS:C4021914" ], "is_a": [ "HP:0010053", "HP:0100930", "HP:0100948" ], "is_obsolete": "", "replace_id": "" }, "HP:0100945": { "name": [ "sclerosis of the 1st metatarsal", "sclerosis of the 1st metatarsal" ], "alt_id": [], "def": "", "synonym": [ [ "increased bone density in the 1st long bone of foot", "increase bone density in the 1st long bone of foot" ] ], "xref": [ "UMLS:C4021913" ], "is_a": [ "HP:0100930" ], "is_obsolete": "", "replace_id": "" }, "HP:0100946": { "name": [ "sclerosis of proximal toe phalanx", "sclerosis of proximal toe phalanx" ], "alt_id": [], "def": "An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in innermost toe bone", "increase bone density in innermost toe bone" ], [ "sclerosis of the proximal phalanges of the toes", "sclerosis of the proximal phalanx of the toe" ] ], "xref": [ "UMLS:C4020925" ], "is_a": [ "HP:0010184", "HP:0100924" ], "is_obsolete": "", "replace_id": "" }, "HP:0100947": { "name": [ "sclerosis of middle toe phalanx", "sclerosis of middle toe phalanx" ], "alt_id": [], "def": "An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in middle toe bone", "increase bone density in middle toe bone" ], [ "sclerosis of the middle phalanges of the toes", "sclerosis of the middle phalanx of the toe" ] ], "xref": [ "UMLS:C4020924" ], "is_a": [ "HP:0010183", "HP:0100924" ], "is_obsolete": "", "replace_id": "" }, "HP:0100948": { "name": [ "sclerosis of distal toe phalanx", "sclerosis of distal toe phalanx" ], "alt_id": [], "def": "An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.", "synonym": [ [ "increased bone density in the outermost bone of the toes", "increase bone density in the outermost bone of the toe" ], [ "sclerosis of the distal phalanges of the toes", "sclerosis of the distal phalanx of the toe" ] ], "xref": [ "UMLS:C4020923" ], "is_a": [ "HP:0010182", "HP:0100924" ], "is_obsolete": "", "replace_id": "" }, "HP:0100950": { "name": [ "decreased 3 - hydroxyacyl - coa dehydrogenase level", "decrease 3 - hydroxyacyl - coa dehydrogenase level" ], "alt_id": [], "def": "", "synonym": [ [ "long chain 3 hydroxyacyl coa dehydrogenase deficiency", "long chain 3 hydroxyacyl coa dehydrogenase deficiency" ], [ "medium and short - chain l - 3 - hydroxyacyl - coenzyme a dehydrogenase deficiency", "medium and short - chain l - 3 - hydroxyacyl - coenzyme a dehydrogenase deficiency" ], [ "short - chain 3 - hydroxyacyl - coenzyme a dehydrogenase deficiency", "short - chain 3 - hydroxyacyl - coenzyme a dehydrogenase deficiency" ] ], "xref": [ "MSH:C566945", "SNOMEDCT_US:237999008", "UMLS:C1969443" ], "is_a": [ "HP:0003287", "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0100951": { "name": [ "enlarged fossa interpeduncularis", "enlarge fossa interpeduncularis" ], "alt_id": [ "HP:0002420" ], "def": "", "synonym": [ [ "enlarged basal cistern", "enlarge basal cistern" ], [ "enlarged interpeduncular cistern", "enlarge interpeduncular cistern" ] ], "xref": [ "UMLS:C4020922" ], "is_a": [ "HP:0002119" ], "is_obsolete": "", "replace_id": "" }, "HP:0100952": { "name": [ "enlarged sylvian cistern", "enlarge sylvian cistern" ], "alt_id": [], "def": "An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).", "synonym": [ [ "enlarged lateral fissure", "enlarged lateral fissure" ], [ "enlarged lateral sulcus", "enlarged lateral sulcus" ], [ "enlarged sylvian fissure", "enlarge sylvian fissure" ] ], "xref": [ "UMLS:C4020921" ], "is_a": [ "HP:0002119" ], "is_obsolete": "", "replace_id": "" }, "HP:0100953": { "name": [ "enlarged interhemispheric fissure", "enlarge interhemispheric fissure" ], "alt_id": [], "def": "", "synonym": [ [ "enlarged great longitudinal fissure", "enlarge great longitudinal fissure" ], [ "enlarged longitudinal cerebral fissure", "enlarge longitudinal cerebral fissure" ], [ "enlarged longitudinal fissure", "enlarge longitudinal fissure" ] ], "xref": [ "UMLS:C4020920" ], "is_a": [ "HP:0012703" ], "is_obsolete": "", "replace_id": "" }, "HP:0100954": { "name": [ "open operculum", "open operculum" ], "alt_id": [], "def": "Underdevelopment of the operculum.", "synonym": [], "xref": [ "UMLS:C2675973" ], "is_a": [ "HP:0002538", "HP:0006872" ], "is_obsolete": "", "replace_id": "" }, "HP:0100955": { "name": [ "giant cell granuloma of mandible", "giant cell granuloma of mandible" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021912" ], "is_a": [ "HP:0000277" ], "is_obsolete": "", "replace_id": "" }, "HP:0100957": { "name": [ "abnormal renal medulla morphology", "abnormal renal medulla morphology" ], "alt_id": [ "HP:0005582" ], "def": "Any structural abnormality of the medulla of the kidney.", "synonym": [ [ "abnormality of the renal medulla", "abnormality of the renal medulla" ] ], "xref": [ "UMLS:C4021911" ], "is_a": [ "HP:0012210" ], "is_obsolete": "", "replace_id": "" }, "HP:0100958": { "name": [ "narrow foramen obturatorium", "narrow foramen obturatorium" ], "alt_id": [], "def": "Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis.", "synonym": [], "xref": [ "UMLS:C4021910" ], "is_a": [ "HP:0003172", "HP:0003174" ], "is_obsolete": "", "replace_id": "" }, "HP:0100959": { "name": [ "dense metaphyseal bands", "dense metaphyseal band" ], "alt_id": [], "def": "Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex.", "synonym": [ [ "dense metaphyseal lines", "dense metaphyseal line" ], [ "transverse metaphyseal bands", "transverse metaphyseal band" ] ], "xref": [ "UMLS:C4020919" ], "is_a": [ "HP:0000944" ], "is_obsolete": "", "replace_id": "" }, "HP:0100960": { "name": [ "asymmetric ventricles", "asymmetric ventricle" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021909" ], "is_a": [ "HP:0002118" ], "is_obsolete": "", "replace_id": "" }, "HP:0100961": { "name": [ "enlarged hippocampus", "enlarge hippocampus" ], "alt_id": [], "def": "Increase in size of the hippocampus.", "synonym": [], "xref": [ "UMLS:C4021908" ], "is_a": [ "HP:0025100" ], "is_obsolete": "", "replace_id": "" }, "HP:0100962": { "name": [ "shyness", "shyness" ], "alt_id": [], "def": "", "synonym": [ [ "shyness", "shyness" ] ], "xref": [ "MSH:D012792", "UMLS:C0037020" ], "is_a": [ "HP:0012433" ], "is_obsolete": "", "replace_id": "" }, "HP:0100963": { "name": [ "hyperesthesia", "hyperesthesia" ], "alt_id": [], "def": "Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain.", "synonym": [ [ "hyperaesthesia", "hyperaesthesia" ] ], "xref": [ "MSH:D006941", "SNOMEDCT_US:14151009", "UMLS:C0020453" ], "is_a": [ "HP:0033747" ], "is_obsolete": "", "replace_id": "" }, "HP:0200000": { "name": [ "dysharmonic bone age", "dysharmonic bone age" ], "alt_id": [], "def": "Different levels of maturation of different bones.", "synonym": [ [ "dysharmonic skeletal maturation", "dysharmonic skeletal maturation" ] ], "xref": [ "UMLS:C4020918" ], "is_a": [ "HP:0000927" ], "is_obsolete": "", "replace_id": "" }, "HP:0200001": { "name": [ "dysharmonic accelerated bone age", "dysharmonic accelerate bone age" ], "alt_id": [], "def": "A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones.", "synonym": [], "xref": [ "UMLS:C4021907" ], "is_a": [ "HP:0005616", "HP:0200000" ], "is_obsolete": "", "replace_id": "" }, "HP:0200003": { "name": [ "splayed epiphyses", "splay epiphysis" ], "alt_id": [ "HP:0004978" ], "def": "Flaring (widening) of the epiphysis.", "synonym": [ [ "splayed end part of bone", "splayed end part of bone" ] ], "xref": [ "UMLS:C4021906" ], "is_a": [ "HP:0005930" ], "is_obsolete": "", "replace_id": "" }, "HP:0200005": { "name": [ "abnormal shape of the palpebral fissure", "abnormal shape of the palpebral fissure" ], "alt_id": [], "def": "The presence of an abnormal shape of the palpebral fissure.", "synonym": [ [ "abnormal morphology of the palpebral fissure", "abnormal morphology of the palpebral fissure" ], [ "abnormal shape of the opening between the eyelids", "abnormal shape of the opening between the eyelid" ] ], "xref": [ "UMLS:C4021905" ], "is_a": [ "HP:0008050" ], "is_obsolete": "", "replace_id": "" }, "HP:0200006": { "name": [ "slanting of the palpebral fissure", "slanting of the palpebral fissure" ], "alt_id": [], "def": "", "synonym": [ [ "slanting of the opening between the eyelids", "slanting of the opening between the eyelid" ] ], "xref": [ "UMLS:C2748932" ], "is_a": [ "HP:0008050" ], "is_obsolete": "", "replace_id": "" }, "HP:0200007": { "name": [ "abnormal size of the palpebral fissures", "abnormal size of the palpebral fissure" ], "alt_id": [], "def": "An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures.", "synonym": [ [ "abnormal size of the eyes", "abnormal size of the eye" ], [ "abnormal size of the opening between the eyelids", "abnormal size of the opening between the eyelid" ] ], "xref": [ "UMLS:C4021904", "UMLS:C4280286" ], "is_a": [ "HP:0008050" ], "is_obsolete": "", "replace_id": "" }, "HP:0200008": { "name": [ "intestinal polyposis", "intestinal polyposis" ], "alt_id": [], "def": "The presence of multiple polyps in the intestine.", "synonym": [ [ "gastrointestinal polyps", "gastrointestinal polyp" ], [ "growths in inner lining of intestine", "growth in inner lining of intestine" ], [ "multiple intestinal polyps", "multiple intestinal polyp" ] ], "xref": [ "MSH:D044483", "UMLS:C0744333", "UMLS:C1257915" ], "is_a": [ "HP:0005266" ], "is_obsolete": "", "replace_id": "" }, "HP:0200011": { "name": [ "abnormal length of corpus callosum", "abnormal length of corpus callosum" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021903" ], "is_a": [ "HP:0001273" ], "is_obsolete": "", "replace_id": "" }, "HP:0200012": { "name": [ "short corpus callosum", "short corpus callosum" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021902" ], "is_a": [ "HP:0200011" ], "is_obsolete": "", "replace_id": "" }, "HP:0200013": { "name": [ "neoplasm of fatty tissue", "neoplasm of fatty tissue" ], "alt_id": [], "def": "A tumor (abnormal growth of tissue) of adipose tissue.", "synonym": [ [ "tumor of fatty tissue", "tumor of fatty tissue" ], [ "tumour of fatty tissue", "tumour of fatty tissue" ] ], "xref": [ "NCIT:C3262", "UMLS:C4021901" ], "is_a": [ "HP:0009124", "HP:0011793" ], "is_obsolete": "", "replace_id": "" }, "HP:0200015": { "name": [ "symmetric great toe depigmentation", "symmetric great toe depigmentation" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021900" ], "is_a": [ "HP:0001000" ], "is_obsolete": "", "replace_id": "" }, "HP:0200016": { "name": [ "acrokeratosis", "acrokeratosis" ], "alt_id": [], "def": "Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.", "synonym": [ [ "acral keratosis", "acral keratosis" ] ], "xref": [ "SNOMEDCT_US:46629009", "UMLS:C0001202" ], "is_a": [ "HP:0011368", "HP:0200036" ], "is_obsolete": "", "replace_id": "" }, "HP:0200017": { "name": [ "cerebral white matter agenesis", "cerebral white matter agenesis" ], "alt_id": [], "def": "Congenital defect with failure of the development of the cerebral white matter.", "synonym": [ [ "agenesis of the cerebral white matter", "agenesis of the cerebral white matter" ], [ "white matter agenesis", "white matter agenesis" ] ], "xref": [ "UMLS:C1859969" ], "is_a": [ "HP:0012429" ], "is_obsolete": "", "replace_id": "" }, "HP:0200018": { "name": [ "protanomaly", "protanomaly" ], "alt_id": [ "HP:0200019" ], "def": "A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green.", "synonym": [ [ "colorblindness , partial , protan series", "colorblindness , partial , protan series" ], [ "red - weak", "red - weak" ] ], "xref": [ "MSH:D003117", "SNOMEDCT_US:51445007", "UMLS:C0155015", "UMLS:C3887980" ], "is_a": [ "HP:0000642", "HP:0011519" ], "is_obsolete": "", "replace_id": "" }, "HP:0200020": { "name": [ "corneal erosion", "corneal erosion" ], "alt_id": [], "def": "An erosion or abrasion of the cornea's outermost layer of epithelial cells.", "synonym": [ [ "damage to outer layer of the cornea of the eye", "damage to outer layer of the cornea of the eye" ] ], "xref": [ "SNOMEDCT_US:50792001", "UMLS:C0392163" ], "is_a": [ "HP:0011495" ], "is_obsolete": "", "replace_id": "" }, "HP:0200021": { "name": [ "down - sloping shoulders", "down - sloping shoulder" ], "alt_id": [ "HP:0001556", "HP:0006663" ], "def": "Low set, steeply sloping shoulders.", "synonym": [ [ "down - sloping shoulders", "down - sloping shoulder" ], [ "rounded shoulders", "rounded shoulder" ], [ "rounded , sloping shoulders", "round , slop shoulder" ], [ "sloping shoulders", "slop shoulder" ] ], "xref": [ "UMLS:C1856872" ], "is_a": [ "HP:0003043" ], "is_obsolete": "", "replace_id": "" }, "HP:0200022": { "name": [ "choroid plexus papilloma", "choroid plexus papilloma" ], "alt_id": [], "def": "Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus.", "synonym": [], "xref": [ "MSH:D020288", "NCIT:C3698", "SNOMEDCT_US:18021007", "UMLS:C0205770" ], "is_a": [ "HP:0007376", "HP:0012740", "HP:0100835" ], "is_obsolete": "", "replace_id": "" }, "HP:0200023": { "name": [ "priapism", "priapism" ], "alt_id": [], "def": "A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours.", "synonym": [ [ "hulseyism", "hulseyism" ] ], "xref": [ "MSH:D011317", "SNOMEDCT_US:6273006", "UMLS:C0033117" ], "is_a": [ "HP:0100639" ], "is_obsolete": "", "replace_id": "" }, "HP:0200024": { "name": [ "premature chromatid separation", "premature chromatid separation" ], "alt_id": [], "def": "The presence of premature sister chromatid segregation.", "synonym": [], "xref": [ "UMLS:C4021899" ], "is_a": [ "HP:0002916" ], "is_obsolete": "", "replace_id": "" }, "HP:0200025": { "name": [ "mandibular pain", "mandibular pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.", "synonym": [ [ "lower jaw pain", "low jaw pain" ] ], "xref": [ "SNOMEDCT_US:274667000", "UMLS:C0236000" ], "is_a": [ "HP:0000277", "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0200026": { "name": [ "ocular pain", "ocular pain" ], "alt_id": [], "def": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.", "synonym": [ [ "eye pain", "eye pain" ] ], "xref": [ "MSH:D058447", "SNOMEDCT_US:41652007", "UMLS:C0151827" ], "is_a": [ "HP:0012373", "HP:0046506" ], "is_obsolete": "", "replace_id": "" }, "HP:0200028": { "name": [ "pretibial myxedema", "pretibial myxedema" ], "alt_id": [], "def": "A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet.", "synonym": [ [ "graves dermopathy", "graf dermopathy" ] ], "xref": [ "SNOMEDCT_US:237825005", "SNOMEDCT_US:78146007", "UMLS:C0033103", "UMLS:C0342554" ], "is_a": [ "HP:0011356" ], "is_obsolete": "", "replace_id": "" }, "HP:0200029": { "name": [ "vasculitis in the skin", "vasculitis in the skin" ], "alt_id": [], "def": "", "synonym": [ [ "cutaneous vasculitis", "cutaneous vasculitis" ] ], "xref": [ "SNOMEDCT_US:53312001", "UMLS:C0262988" ], "is_a": [ "HP:0002633", "HP:0011276" ], "is_obsolete": "", "replace_id": "" }, "HP:0200030": { "name": [ "punctate vasculitis skin lesions", "punctate vasculitis skin lesion" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3277693" ], "is_a": [ "HP:0200029" ], "is_obsolete": "", "replace_id": "" }, "HP:0200032": { "name": [ "kayser - fleischer ring", "kayser - fleischer ring" ], "alt_id": [], "def": "Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea.", "synonym": [ [ "fleischer 's ring", "fleischer 's ring" ], [ "fleischer - kayser ring", "fleischer - kayser ring" ], [ "fleischer - struempell ring", "fleischer - struempell ring" ] ], "xref": [ "SNOMEDCT_US:77103006", "UMLS:C0152457" ], "is_a": [ "HP:0007957" ], "is_obsolete": "", "replace_id": "" }, "HP:0200034": { "name": [ "papule", "papule" ], "alt_id": [], "def": "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.", "synonym": [ [ "papules", "papule" ], [ "skin papules", "skin papule" ] ], "xref": [ "MEDDRA:10033733 \"Papule\"", "SNOMEDCT_US:25694009", "SNOMEDCT_US:443871003", "UMLS:C0332563" ], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0200035": { "name": [ "skin plaque", "skin plaque" ], "alt_id": [], "def": "A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.", "synonym": [], "xref": [ "SNOMEDCT_US:128177006", "SNOMEDCT_US:276322001", "UMLS:C0241148" ], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0200036": { "name": [ "skin nodule", "skin nodule" ], "alt_id": [], "def": "Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.", "synonym": [ [ "growth of abnormal tissue on or under the skin", "growth of abnormal tissue on or under the skin" ] ], "xref": [ "SNOMEDCT_US:95319004", "UMLS:C0037287" ], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0200037": { "name": [ "skin vesicle", "skin vesicle" ], "alt_id": [], "def": "A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.", "synonym": [], "xref": [ "UMLS:C3814530" ], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0200039": { "name": [ "pustule", "pustule" ], "alt_id": [], "def": "A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.", "synonym": [ [ "pimple", "pimple" ], [ "pustula", "pustula" ], [ "pustular lesion", "pustular lesion" ], [ "pustules", "pustule" ], [ "skin pustule", "skin pustule" ], [ "skin pustules", "skin pustule" ] ], "xref": [ "MEDDRA:10037578 \"Pustule\"", "SNOMEDCT_US:103605005", "SNOMEDCT_US:271760008", "SNOMEDCT_US:285305004", "SNOMEDCT_US:47002008", "UMLS:C0241157", "UMLS:C0542346" ], "is_a": [ "HP:0011123" ], "is_obsolete": "", "replace_id": "" }, "HP:0200040": { "name": [ "epidermoid cyst", "epidermoid cyst" ], "alt_id": [], "def": "Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts.", "synonym": [ [ "epidermal cyst", "epidermal cyst" ], [ "epidermal inclusion cyst", "epidermal inclusion cyst" ], [ "epidermoid cysts", "epidermoid cyst" ], [ "infundibular cyst", "infundibular cyst" ], [ "keratin cyst", "keratin cyst" ], [ "sebaceous cyst", "sebaceous cyst" ], [ "skin cyst", "skin cyst" ] ], "xref": [ "MSH:D004814", "SNOMEDCT_US:399999000", "SNOMEDCT_US:417992006", "SNOMEDCT_US:418323001", "SNOMEDCT_US:418630001", "SNOMEDCT_US:419603000", "SNOMEDCT_US:419670003", "SNOMEDCT_US:419893006", "UMLS:C0014511" ], "is_a": [ "HP:0025245" ], "is_obsolete": "", "replace_id": "" }, "HP:0200041": { "name": [ "skin erosion", "skin erosion" ], "alt_id": [], "def": "A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.", "synonym": [], "xref": [ "MEDDRA:10040840 \"Skin erosion\"", "SNOMEDCT_US:93448009", "UMLS:C3887524" ], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0200042": { "name": [ "skin ulcer", "skin ulcer" ], "alt_id": [], "def": "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.", "synonym": [ [ "open skin sore", "open skin sore" ] ], "xref": [ "MEDDRA:10040943 \"Skin ulcer\"", "MSH:D012883", "SNOMEDCT_US:46742003", "UMLS:C0037299" ], "is_a": [ "HP:0011355" ], "is_obsolete": "", "replace_id": "" }, "HP:0200043": { "name": [ "verrucae", "verruca" ], "alt_id": [], "def": "Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.", "synonym": [ [ "warts", "wart" ] ], "xref": [ "MSH:D014860", "SNOMEDCT_US:30285000", "SNOMEDCT_US:57019003", "UMLS:C3665596" ], "is_a": [ "HP:0012740" ], "is_obsolete": "", "replace_id": "" }, "HP:0200044": { "name": [ "porokeratosis", "porokeratosis" ], "alt_id": [], "def": "A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.", "synonym": [], "xref": [ "MSH:D017499", "SNOMEDCT_US:80432009", "UMLS:C0949506" ], "is_a": [ "HP:0011368" ], "is_obsolete": "", "replace_id": "" }, "HP:0200046": { "name": [ "cat cry", "cat cry" ], "alt_id": [], "def": "The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.", "synonym": [ [ "cat cry", "cat cry" ], [ "cat - like cry", "cat - like cry" ], [ "cri de chat - associated cry", "cri de chat - associate cry" ] ], "xref": [ "SNOMEDCT_US:42712003", "UMLS:C0234861" ], "is_a": [ "HP:0025429" ], "is_obsolete": "", "replace_id": "" }, "HP:0200047": { "name": [ "chondritis of pinna", "chondritis of pinna" ], "alt_id": [], "def": "Inflammation of the cartilage of the external ear.", "synonym": [ [ "inflammation of cartilage of pinna", "inflammation of cartilage of pinna" ] ], "xref": [ "UMLS:C0741305" ], "is_a": [ "HP:0000377", "HP:0100662" ], "is_obsolete": "", "replace_id": "" }, "HP:0200048": { "name": [ "cyanotic episode", "cyanotic episode" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:301795004", "UMLS:C0578475" ], "is_a": [ "HP:0000961" ], "is_obsolete": "", "replace_id": "" }, "HP:0200049": { "name": [ "upper limb hypertonia", "upper limb hypertonia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021898" ], "is_a": [ "HP:0001446", "HP:0002509" ], "is_obsolete": "", "replace_id": "" }, "HP:0200050": { "name": [ "bracket metacarpal epiphyses", "bracket metacarpal epiphysis" ], "alt_id": [], "def": "", "synonym": [ [ "bracket shaped end part of long bone of hand", "bracket shape end part of long bone of hand" ] ], "xref": [ "UMLS:C4021897" ], "is_a": [ "HP:0005913" ], "is_obsolete": "", "replace_id": "" }, "HP:0200053": { "name": [ "hemihypotrophy of lower limb", "hemihypotrophy of low limb" ], "alt_id": [ "HP:0005618" ], "def": "Shortening of a leg affecting only one side.", "synonym": [ [ "asymmetric leg shortening", "asymmetric leg shorten" ], [ "asymmetric lower limb shortness", "asymmetric low limb shortness" ] ], "xref": [ "UMLS:C1844734" ], "is_a": [ "HP:0100556" ], "is_obsolete": "", "replace_id": "" }, "HP:0200054": { "name": [ "foot monodactyly", "foot monodactyly" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021896" ], "is_a": [ "HP:0001849" ], "is_obsolete": "", "replace_id": "" }, "HP:0200055": { "name": [ "small hand", "small hand" ], "alt_id": [], "def": "Disproportionately small hand.", "synonym": [ [ "disproportionately small hands", "disproportionately small hand" ], [ "small hand", "small hand" ], [ "small hands", "small hand" ] ], "xref": [ "SNOMEDCT_US:299032009", "UMLS:C0575802" ], "is_a": [ "HP:0005927" ], "is_obsolete": "", "replace_id": "" }, "HP:0200056": { "name": [ "macular scar", "macular scar" ], "alt_id": [ "HP:0007949" ], "def": "Scar tissue in the macula.", "synonym": [ [ "macular scarring", "macular scarring" ] ], "xref": [ "SNOMEDCT_US:18410006", "UMLS:C0423428" ], "is_a": [ "HP:0007401", "HP:0100699" ], "is_obsolete": "", "replace_id": "" }, "HP:0200057": { "name": [ "marcus gunn pupil", "marcus gunn pupil" ], "alt_id": [], "def": "An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye.", "synonym": [ [ "relative afferent pupil defect", "relative afferent pupil defect" ], [ "relative afferent pupillary defect", "relative afferent pupillary defect" ] ], "xref": [ "SNOMEDCT_US:232122003", "SNOMEDCT_US:247015002", "UMLS:C0549122" ], "is_a": [ "HP:0000587" ], "is_obsolete": "", "replace_id": "" }, "HP:0200058": { "name": [ "angiosarcoma", "angiosarcoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "MSH:D006394", "SNOMEDCT_US:33176006", "SNOMEDCT_US:39000009", "SNOMEDCT_US:403977003", "UMLS:C0018923" ], "is_a": [ "HP:0030448" ], "is_obsolete": "", "replace_id": "" }, "HP:0200059": { "name": [ "metastatic angiosarcoma", "metastatic angiosarcoma" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C0854892" ], "is_a": [ "HP:0200058" ], "is_obsolete": "", "replace_id": "" }, "HP:0200063": { "name": [ "colorectal polyposis", "colorectal polyposis" ], "alt_id": [], "def": "Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.", "synonym": [ [ "colorectal polyps", "colorectal polyp" ] ], "xref": [ "SNOMEDCT_US:399505005", "UMLS:C0949059" ], "is_a": [ "HP:0030255", "HP:0100743" ], "is_obsolete": "", "replace_id": "" }, "HP:0200064": { "name": [ "asymmetry of iris pigmentation", "asymmetry of iris pigmentation" ], "alt_id": [], "def": "Asymmetry between the two irides or asymmetry between different parts of one iris.", "synonym": [], "xref": [ "MSH:C538115", "SNOMEDCT_US:247033008", "UMLS:C0423318" ], "is_a": [ "HP:0008034" ], "is_obsolete": "", "replace_id": "" }, "HP:0200065": { "name": [ "chorioretinal degeneration", "chorioretinal degeneration" ], "alt_id": [ "HP:0007912", "HP:0007945" ], "def": "", "synonym": [], "xref": [ "SNOMEDCT_US:247177004", "UMLS:C0521683" ], "is_a": [ "HP:0000532" ], "is_obsolete": "", "replace_id": "" }, "HP:0200066": { "name": [ "ribbonlike corneal degeneration", "ribbonlike corneal degeneration" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021894" ], "is_a": [ "HP:0007705" ], "is_obsolete": "", "replace_id": "" }, "HP:0200067": { "name": [ "recurrent spontaneous abortion", "recurrent spontaneous abortion" ], "alt_id": [], "def": "Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.", "synonym": [ [ "spontaneous abortion , recurrent", "spontaneous abortion , recurrent" ] ], "xref": [ "UMLS:C3279439" ], "is_a": [ "HP:0005268" ], "is_obsolete": "", "replace_id": "" }, "HP:0200068": { "name": [ "nonprogressive visual loss", "nonprogressive visual loss" ], "alt_id": [], "def": "", "synonym": [ [ "decreased visual acuity , nonprogressive", "decrease visual acuity , nonprogressive" ] ], "xref": [ "UMLS:C3553696", "UMLS:C4021893" ], "is_a": [ "HP:0000572" ], "is_obsolete": "", "replace_id": "" }, "HP:0200070": { "name": [ "peripheral retinal atrophy", "peripheral retinal atrophy" ], "alt_id": [], "def": "", "synonym": [ [ "wasting of the outer part of the retina", "wasting of the out part of the retina" ] ], "xref": [ "UMLS:C3553016" ], "is_a": [ "HP:0001105" ], "is_obsolete": "", "replace_id": "" }, "HP:0200071": { "name": [ "peripheral vitreoretinal degeneration", "peripheral vitreoretinal degeneration" ], "alt_id": [], "def": "A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina.", "synonym": [], "xref": [ "UMLS:C3280349" ], "is_a": [ "HP:0007773" ], "is_obsolete": "", "replace_id": "" }, "HP:0200072": { "name": [ "episodic quadriplegia", "episodic quadriplegia" ], "alt_id": [], "def": "Intermittent episodes of paralysis of all four limbs.", "synonym": [ [ "quadriplegia , episodic", "quadriplegia , episodic" ] ], "xref": [ "UMLS:C1863062" ], "is_a": [ "HP:0002445" ], "is_obsolete": "", "replace_id": "" }, "HP:0200073": { "name": [ "respiratory insufficiency due to defective ciliary clearance", "respiratory insufficiency due to defective ciliary clearance" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3552099" ], "is_a": [ "HP:0002093", "HP:0012261" ], "is_obsolete": "", "replace_id": "" }, "HP:0200083": { "name": [ "severe limb shortening", "severe limb shorten" ], "alt_id": [], "def": "", "synonym": [ [ "severe limb shortening", "severe limb shorten" ] ], "xref": [ "UMLS:C1835446" ], "is_a": [ "HP:0002983" ], "is_obsolete": "", "replace_id": "" }, "HP:0200084": { "name": [ "giant cell hepatitis", "giant cell hepatitis" ], "alt_id": [], "def": "Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.", "synonym": [ [ "giant cell hepatitis on biopsy", "giant cell hepatitis on biopsy" ], [ "giant cell hepatitis on liver biopsy", "giant cell hepatitis on liver biopsy" ], [ "giant cell hepatitis shown on biopsy", "giant cell hepatitis show on biopsy" ] ], "xref": [ "SNOMEDCT_US:69800000", "UMLS:C0027613", "UMLS:C2673820", "UMLS:C2675624", "UMLS:C4020697" ], "is_a": [ "HP:0012115" ], "is_obsolete": "", "replace_id": "" }, "HP:0200085": { "name": [ "limb tremor", "limb tremor" ], "alt_id": [], "def": "", "synonym": [ [ "involuntary shaking of limb", "involuntary shaking of limb" ], [ "limb tremor", "limb tremor" ], [ "tremor of limbs", "tremor of limb" ] ], "xref": [ "MSH:D014202", "UMLS:C0235081" ], "is_a": [ "HP:0030188" ], "is_obsolete": "", "replace_id": "" }, "HP:0200094": { "name": [ "frontal open bite", "frontal open bite" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C1857012" ], "is_a": [ "HP:0010807" ], "is_obsolete": "", "replace_id": "" }, "HP:0200095": { "name": [ "obsolete anterior open bite", "obsolete anterior open bite" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0009102" }, "HP:0200096": { "name": [ "triangular - shaped open mouth", "triangular - shape open mouth" ], "alt_id": [], "def": "A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle.", "synonym": [ [ "triangular - shaped open mouth", "triangular - shape open mouth" ] ], "xref": [ "UMLS:C1859292" ], "is_a": [ "HP:0000194", "HP:0000207" ], "is_obsolete": "", "replace_id": "" }, "HP:0200097": { "name": [ "oral mucosal blisters", "oral mucosal blister" ], "alt_id": [], "def": "Blisters arising in the mouth.", "synonym": [ [ "blebs of oral mucosa", "bleb of oral mucosa" ], [ "blisters of mouth", "blister of mouth" ], [ "bullae of oral mucosa", "bulla of oral mucosa" ], [ "oral blistering", "oral blistering" ], [ "oral mucosa blisters", "oral mucosa blister" ], [ "oral mucosal blisters", "oral mucosal blister" ] ], "xref": [ "UMLS:C0853945" ], "is_a": [ "HP:0011830", "HP:0033800" ], "is_obsolete": "", "replace_id": "" }, "HP:0200098": { "name": [ "absent skin pigmentation", "absent skin pigmentation" ], "alt_id": [], "def": "Lack of skin pigmentation (coloring).", "synonym": [ [ "absent skin pigmentation", "absent skin pigmentation" ], [ "lack of skin coloration", "lack of skin coloration" ] ], "xref": [ "UMLS:C2673954" ], "is_a": [ "HP:0001010" ], "is_obsolete": "", "replace_id": "" }, "HP:0200099": { "name": [ "obsolete peripheral retinal pigmentation abnormalities", "obsolete peripheral retinal pigmentation abnormality" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0200101": { "name": [ "decreased / absent ankle reflexes", "decrease / absent ankle reflex" ], "alt_id": [], "def": "", "synonym": [ [ "decreased or absent ankle reflexes", "decrease or absent ankle reflex" ], [ "decreased / absent ankle reflexes", "decrease / absent ankle reflex" ] ], "xref": [ "UMLS:C1850816" ], "is_a": [ "HP:0002522" ], "is_obsolete": "", "replace_id": "" }, "HP:0200102": { "name": [ "sparse or absent eyelashes", "sparse or absent eyelash" ], "alt_id": [], "def": "", "synonym": [ [ "partial to total absence of eyelashes", "partial to total absence of eyelash" ], [ "sparse or absent eyelashes", "sparse or absent eyelash" ], [ "sparse to absent eyelashes", "sparse to absent eyelash" ] ], "xref": [ "UMLS:C1835157", "UMLS:C1862855", "UMLS:C3551431" ], "is_a": [ "HP:0000499" ], "is_obsolete": "", "replace_id": "" }, "HP:0200104": { "name": [ "absent fifth fingernail", "absent fifth fingernail" ], "alt_id": [ "HP:0011366" ], "def": "Absence of nail of little finger.", "synonym": [ [ "absent fifth fingernail", "absent fifth fingernail" ], [ "absent nail of fifth finger", "absent nail of fifth finger" ] ], "xref": [ "UMLS:C4020917" ], "is_a": [ "HP:0001817" ], "is_obsolete": "", "replace_id": "" }, "HP:0200105": { "name": [ "absent fifth toenail", "absent fifth toenail" ], "alt_id": [], "def": "", "synonym": [ [ "absent fifth toenail", "absent fifth toenail" ], [ "missing fifth toenail", "miss fifth toenail" ] ], "xref": [ "UMLS:C4021892" ], "is_a": [ "HP:0001802" ], "is_obsolete": "", "replace_id": "" }, "HP:0200106": { "name": [ "absent / shortened dynein arms", "absent / shorten dynein arm" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021891" ], "is_a": [ "HP:0012255" ], "is_obsolete": "", "replace_id": "" }, "HP:0200107": { "name": [ "shortened inner dynein arms", "shorten inner dynein arm" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021890" ], "is_a": [ "HP:0200106" ], "is_obsolete": "", "replace_id": "" }, "HP:0200108": { "name": [ "shortened outer dynein arms", "shorten out dynein arm" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021889" ], "is_a": [ "HP:0200106" ], "is_obsolete": "", "replace_id": "" }, "HP:0200109": { "name": [ "absent / shortened outer dynein arms", "absent / shorten out dynein arm" ], "alt_id": [], "def": "", "synonym": [ [ "respiratory cilia have shortened or absent outer dynein arms", "respiratory cilium have shorten or absent outer dynein arm" ] ], "xref": [ "UMLS:C2750161" ], "is_a": [ "HP:0200106" ], "is_obsolete": "", "replace_id": "" }, "HP:0200111": { "name": [ "absent stapes head", "absent stapes head" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021888" ], "is_a": [ "HP:0008628" ], "is_obsolete": "", "replace_id": "" }, "HP:0200113": { "name": [ "aphalangy of hands and feet", "aphalangy of hand and foot" ], "alt_id": [], "def": "", "synonym": [ [ "aphalangy , hands and feet", "aphalangy , hand and foot" ] ], "xref": [ "UMLS:C4021887" ], "is_a": [ "HP:0005886", "HP:0009776", "HP:0010745" ], "is_obsolete": "", "replace_id": "" }, "HP:0200114": { "name": [ "metabolic alkalosis", "metabolic alkalosis" ], "alt_id": [], "def": "Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.", "synonym": [], "xref": [ "SNOMEDCT_US:1388004", "UMLS:C0220983" ], "is_a": [ "HP:0001948" ], "is_obsolete": "", "replace_id": "" }, "HP:0200116": { "name": [ "distal ileal atresia", "distal ileal atresia" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C3279409" ], "is_a": [ "HP:0011102" ], "is_obsolete": "", "replace_id": "" }, "HP:0200117": { "name": [ "recurrent upper and lower respiratory tract infections", "recurrent upper and low respiratory tract infection" ], "alt_id": [], "def": "Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.", "synonym": [], "xref": [ "UMLS:C1842777" ], "is_a": [ "HP:0002783", "HP:0002788" ], "is_obsolete": "", "replace_id": "" }, "HP:0200118": { "name": [ "malabsorption of vitamin b12", "malabsorption of vitamin b12" ], "alt_id": [], "def": "", "synonym": [ [ "malabsorption of cyanocobalamin", "malabsorption of cyanocobalamin" ], [ "vitamin b12 deficiency caused by intestinal malabsorption", "vitamin b12 deficiency cause by intestinal malabsorption" ] ], "xref": [ "UMLS:C0750292", "UMLS:C1850013" ], "is_a": [ "HP:0004341" ], "is_obsolete": "", "replace_id": "" }, "HP:0200119": { "name": [ "acute hepatitis", "acute hepatitis" ], "alt_id": [], "def": "Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders.", "synonym": [ [ "acute liver inflammation", "acute liver inflammation" ] ], "xref": [ "SNOMEDCT_US:37871000", "UMLS:C0267797" ], "is_a": [ "HP:0012115" ], "is_obsolete": "", "replace_id": "" }, "HP:0200120": { "name": [ "chronic active hepatitis", "chronic active hepatitis" ], "alt_id": [], "def": "Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis.", "synonym": [ [ "hepatitis , chronic active", "hepatitis , chronic active" ] ], "xref": [ "MSH:D006521", "SNOMEDCT_US:197284004", "UMLS:C0520463" ], "is_a": [ "HP:0200123" ], "is_obsolete": "", "replace_id": "" }, "HP:0200122": { "name": [ "atypical or prolonged hepatitis", "atypical or prolonged hepatitis" ], "alt_id": [], "def": "", "synonym": [ [ "atypical or prolonged liver inflammation", "atypical or prolonged liver inflammation" ] ], "xref": [ "UMLS:C1848456" ], "is_a": [ "HP:0012115" ], "is_obsolete": "", "replace_id": "" }, "HP:0200123": { "name": [ "chronic hepatitis", "chronic hepatitis" ], "alt_id": [], "def": "Hepatitis that lasts for more than six months.", "synonym": [ [ "chronic liver inflammation", "chronic liver inflammation" ] ], "xref": [ "MSH:D006521", "SNOMEDCT_US:76783007", "UMLS:C0019189" ], "is_a": [ "HP:0012115" ], "is_obsolete": "", "replace_id": "" }, "HP:0200124": { "name": [ "chronic hepatitis due to cryptosporidium infection", "chronic hepatitis due to cryptosporidium infection" ], "alt_id": [], "def": "Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.", "synonym": [ [ "hepatitis , chronic , due to cryptosporidium infection", "hepatitis , chronic , due to cryptosporidium infection" ] ], "xref": [ "UMLS:C3808820" ], "is_a": [ "HP:0200123" ], "is_obsolete": "", "replace_id": "" }, "HP:0200125": { "name": [ "mitochondrial respiratory chain defects", "mitochondrial respiratory chain defect" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C2751582" ], "is_a": [ "HP:0003287" ], "is_obsolete": "", "replace_id": "" }, "HP:0200126": { "name": [ "obsolete amyloid cardiomyopathy", "obsolete amyloid cardiomyopathy" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0030843" }, "HP:0200127": { "name": [ "atrial cardiomyopathy", "atrial cardiomyopathy" ], "alt_id": [], "def": "Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations.", "synonym": [], "xref": [ "UMLS:C4021885" ], "is_a": [ "HP:0001638" ], "is_obsolete": "", "replace_id": "" }, "HP:0200128": { "name": [ "biventricular hypertrophy", "biventricular hypertrophy" ], "alt_id": [], "def": "Thickening of the heart walls in both ventricles.", "synonym": [], "xref": [ "UMLS:C0281788" ], "is_a": [ "HP:0001714" ], "is_obsolete": "", "replace_id": "" }, "HP:0200129": { "name": [ "obsolete calcific mitral stenosis", "obsolete calcific mitral stenosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0200133": { "name": [ "lumbosacral meningocele", "lumbosacral meningocele" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C2675557" ], "is_a": [ "HP:0100712" ], "is_obsolete": "", "replace_id": "" }, "HP:0200134": { "name": [ "epileptic encephalopathy", "epileptic encephalopathy" ], "alt_id": [], "def": "A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.", "synonym": [ [ "convulsive encephalopathy", "convulsive encephalopathy" ] ], "xref": [ "UMLS:C0543888" ], "is_a": [ "HP:0001298" ], "is_obsolete": "", "replace_id": "" }, "HP:0200135": { "name": [ "obsolete macrocephaly due to hydrocephalus", "obsolete macrocephaly due to hydrocephalus" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0200136": { "name": [ "oral - pharyngeal dysphagia", "oral - pharyngeal dysphagia" ], "alt_id": [], "def": "", "synonym": [ [ "oral pharyngeal dysphagia", "oral pharyngeal dysphagia" ], [ "oropharyngeal dysphagia", "oropharyngeal dysphagia" ] ], "xref": [ "MSH:D003680", "SNOMEDCT_US:71457002", "UMLS:C0267071" ], "is_a": [ "HP:0002015" ], "is_obsolete": "", "replace_id": "" }, "HP:0200138": { "name": [ "bilateral choanal atresia / stenosis", "bilateral choanal atresia / stenosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021884" ], "is_a": [ "HP:0000452", "HP:0004502" ], "is_obsolete": "", "replace_id": "" }, "HP:0200141": { "name": [ "small , conical teeth", "small , conical teeth" ], "alt_id": [], "def": "", "synonym": [ [ "conical microdontia", "conical microdontia" ], [ "small , cone shaped teeth", "small , cone shape teeth" ], [ "small , peg shaped teeth", "small , peg shape teeth" ], [ "small , pointed teeth", "small , point teeth" ] ], "xref": [ "UMLS:C1851883", "UMLS:C4280284", "UMLS:C4280285" ], "is_a": [ "HP:0000691", "HP:0000698" ], "is_obsolete": "", "replace_id": "" }, "HP:0200143": { "name": [ "megaloblastic erythroid hyperplasia", "megaloblastic erythroid hyperplasia" ], "alt_id": [], "def": "", "synonym": [ [ "bone marrow biopsy shows megaloblastic erythroid hyperplasia", "bone marrow biopsy show megaloblastic erythroid hyperplasia" ] ], "xref": [ "UMLS:C1334688", "UMLS:C1850020" ], "is_a": [ "HP:0012132" ], "is_obsolete": "", "replace_id": "" }, "HP:0200144": { "name": [ "obsolete anaphylactoid purpura", "obsolete anaphylactoid purpura" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0200146": { "name": [ "mucoid extracellular matrix accumulation", "mucoid extracellular matrix accumulation" ], "alt_id": [], "def": "An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.).", "synonym": [ [ "cystic medial necrosis of the aorta", "cystic medial necrosis of the aorta" ] ], "xref": [ "MSH:C536230", "SNOMEDCT_US:234021009", "SNOMEDCT_US:42182000", "SNOMEDCT_US:45894003", "UMLS:C0392775" ], "is_a": [ "HP:0012180", "HP:0032079" ], "is_obsolete": "", "replace_id": "" }, "HP:0200147": { "name": [ "neuronal loss in basal ganglia", "neuronal loss in basal ganglion" ], "alt_id": [], "def": "A reduction in the number of nerve cells in the basal ganglia.", "synonym": [], "xref": [ "UMLS:C2750913" ], "is_a": [ "HP:0002134" ], "is_obsolete": "", "replace_id": "" }, "HP:0200148": { "name": [ "abnormal liver function tests during pregnancy", "abnormal liver function test during pregnancy" ], "alt_id": [], "def": "", "synonym": [ [ "abnormal liver function tests during pregnancy", "abnormal liver function test during pregnancy" ], [ "abnormal liver function tests during pregnancy , resolves postpartum", "abnormal liver function test during pregnancy , resolve postpartum" ] ], "xref": [ "UMLS:C2750654", "UMLS:C4021883" ], "is_a": [ "HP:0002910" ], "is_obsolete": "", "replace_id": "" }, "HP:0200149": { "name": [ "csf lymphocytic pleiocytosis", "csf lymphocytic pleiocytosis" ], "alt_id": [], "def": "An increased lymphocyte count in the cerebrospinal fluid.", "synonym": [ [ "csf lymphocytosis", "csf lymphocytosis" ] ], "xref": [ "SNOMEDCT_US:167719009", "UMLS:C0427877" ], "is_a": [ "HP:0012229" ], "is_obsolete": "", "replace_id": "" }, "HP:0200150": { "name": [ "increased serum bile acid concentration during pregnancy", "increase serum bile acid concentration during pregnancy" ], "alt_id": [], "def": "", "synonym": [ [ "increased serum bile acid concentration during pregnancy , resolves", "increase serum bile acid concentration during pregnancy , resolve" ] ], "xref": [ "UMLS:C4020695", "UMLS:C4021882" ], "is_a": [ "HP:0012202" ], "is_obsolete": "", "replace_id": "" }, "HP:0200151": { "name": [ "cutaneous mastocytosis", "cutaneous mastocytosis" ], "alt_id": [], "def": "Multifocal dense infiltrates of mast cells in cutaneous tissue.", "synonym": [], "xref": [ "MSH:D034701", "SNOMEDCT_US:397012002", "SNOMEDCT_US:703827008", "UMLS:C1136033" ], "is_a": [ "HP:0008069", "HP:0100495" ], "is_obsolete": "", "replace_id": "" }, "HP:0200153": { "name": [ "agenesis of lateral incisor", "agenesis of lateral incisor" ], "alt_id": [], "def": "", "synonym": [ [ "absence of lateral incisor", "absence of lateral incisor" ], [ "failure of development of lateral incisor", "failure of development of lateral incisor" ], [ "missing lateral incisor", "miss lateral incisor" ] ], "xref": [ "UMLS:C4021881", "UMLS:C4227831" ], "is_a": [ "HP:0006485" ], "is_obsolete": "", "replace_id": "" }, "HP:0200154": { "name": [ "agenesis of mandibular lateral incisor", "agenesis of mandibular lateral incisor" ], "alt_id": [], "def": "", "synonym": [ [ "absence of lower lateral incisor", "absence of low lateral incisor" ], [ "absence of mandibular lateral incisor", "absence of mandibular lateral incisor" ], [ "failure of development of mandibular lateral incisor", "failure of development of mandibular lateral incisor" ], [ "missing lower lateral incisor", "miss low lateral incisor" ], [ "missing mandibular lateral incisor", "miss mandibular lateral incisor" ] ], "xref": [ "UMLS:C4021880", "UMLS:C4280283" ], "is_a": [ "HP:0200153", "HP:0200161" ], "is_obsolete": "", "replace_id": "" }, "HP:0200158": { "name": [ "agenesis of permanent mandibular lateral incisor", "agenesis of permanent mandibular lateral incisor" ], "alt_id": [], "def": "", "synonym": [ [ "absence of adult mandibular lateral incisor", "absence of adult mandibular lateral incisor" ], [ "absence of permanent mandibular lateral incisor", "absence of permanent mandibular lateral incisor" ], [ "failure of development of permanent mandibular lateral incisor", "failure of development of permanent mandibular lateral incisor" ], [ "missing adult lower lateral incisor", "miss adult lower lateral incisor" ], [ "missing permanent mandibular lateral incisor", "miss permanent mandibular lateral incisor" ] ], "xref": [ "UMLS:C4021879", "UMLS:C4280282" ], "is_a": [ "HP:0200154" ], "is_obsolete": "", "replace_id": "" }, "HP:0200159": { "name": [ "agenesis of primary mandibular lateral incisor", "agenesis of primary mandibular lateral incisor" ], "alt_id": [], "def": "", "synonym": [ [ "absence of deciduous mandibular lateral incisor", "absence of deciduous mandibular lateral incisor" ], [ "absence of lower front baby tooth", "absence of low front baby tooth" ], [ "absence of primary mandibular lateral incisor", "absence of primary mandibular lateral incisor" ], [ "agenesis of deciduous mandibular lateral incisor", "agenesis of deciduous mandibular lateral incisor" ], [ "failure of development of deciduous mandibular lateral incisor", "failure of development of deciduous mandibular lateral incisor" ], [ "failure of development of primary mandibular lateral incisor", "failure of development of primary mandibular lateral incisor" ], [ "missing deciduous mandibular lateral incisor", "miss deciduous mandibular lateral incisor" ], [ "missing primary mandibular lateral incisor", "miss primary mandibular lateral incisor" ] ], "xref": [ "UMLS:C4021878", "UMLS:C4280280", "UMLS:C4280281" ], "is_a": [ "HP:0200154" ], "is_obsolete": "", "replace_id": "" }, "HP:0200160": { "name": [ "agenesis of maxillary incisor", "agenesis of maxillary incisor" ], "alt_id": [], "def": "", "synonym": [ [ "absence of maxillary incisor", "absence of maxillary incisor" ], [ "absence of upper front tooth", "absence of upper front tooth" ], [ "failure of development of maxillary incisor", "failure of development of maxillary incisor" ], [ "failure of development of upper incisor", "failure of development of upper incisor" ], [ "missing upper front tooth", "miss upper front tooth" ], [ "missing upper incisor", "miss upper incisor" ] ], "xref": [ "UMLS:C4021877", "UMLS:C4280278", "UMLS:C4280279" ], "is_a": [ "HP:0006485" ], "is_obsolete": "", "replace_id": "" }, "HP:0200161": { "name": [ "agenesis of mandibular incisor", "agenesis of mandibular incisor" ], "alt_id": [], "def": "", "synonym": [ [ "absence of lower front tooth", "absence of low front tooth" ], [ "absence of lower incisor", "absence of low incisor" ], [ "absence of mandibular incisor", "absence of mandibular incisor" ], [ "agenesis of lower incisor", "agenesis of low incisor" ], [ "failure of development of mandibular incisor", "failure of development of mandibular incisor" ], [ "missing lower front tooth", "miss low front tooth" ], [ "missing lower incisor", "miss low incisor" ] ], "xref": [ "UMLS:C3150012", "UMLS:C4021876", "UMLS:C4280277" ], "is_a": [ "HP:0006485" ], "is_obsolete": "", "replace_id": "" }, "HP:0400000": { "name": [ "tall chin", "tall chin" ], "alt_id": [], "def": "Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.", "synonym": [ [ "increased height of chin", "increase height of chin" ], [ "increased height of menton region", "increase height of menton region" ], [ "long chin", "long chin" ], [ "long lower third of face", "long low third of face" ], [ "tall chin", "tall chin" ], [ "vertical excess of chin", "vertical excess of chin" ], [ "vertical hyperplasia of chin", "vertical hyperplasia of chin" ] ], "xref": [ "SNOMEDCT_US:471397004", "UMLS:C3532221", "UMLS:C4021875" ], "is_a": [ "HP:0000306" ], "is_obsolete": "", "replace_id": "" }, "HP:0400001": { "name": [ "chin with vertical crease", "chin with vertical crease" ], "alt_id": [], "def": "Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest.", "synonym": [ [ "chin with vertical crease", "chin with vertical crease" ], [ "chin with vertical furrow", "chin with vertical furrow" ], [ "chin with vertical groove", "chin with vertical groove" ], [ "chin with vertical sulcus", "chin with vertical sulcus" ], [ "chin , vertical crease", "chin , vertical crease" ], [ "cleft chin", "cleft chin" ], [ "vertical chin skin cleft", "vertical chin skin cleft" ], [ "vertical menton crease", "vertical menton crease" ] ], "xref": [ "UMLS:C4020916" ], "is_a": [ "HP:0000306" ], "is_obsolete": "", "replace_id": "" }, "HP:0400002": { "name": [ "extra concha fold", "extra concha fold" ], "alt_id": [], "def": "Folds or ridges within the concha that are distinct from the crus helix.", "synonym": [ [ "concha , extra fold", "concha , extra fold" ] ], "xref": [ "UMLS:C4020915" ], "is_a": [ "HP:0000356" ], "is_obsolete": "", "replace_id": "" }, "HP:0400003": { "name": [ "focal absence of the external ear", "focal absence of the external ear" ], "alt_id": [], "def": "Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe).", "synonym": [], "xref": [ "UMLS:C4021874" ], "is_a": [ "HP:0008772" ], "is_obsolete": "", "replace_id": "" }, "HP:0400004": { "name": [ "long ear", "long ear" ], "alt_id": [], "def": "Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.", "synonym": [ [ "long ear", "long ear" ], [ "long ears", "long ear" ] ], "xref": [ "UMLS:C1848657" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0400005": { "name": [ "short ear", "short ear" ], "alt_id": [], "def": "Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.", "synonym": [ [ "short ear", "short ear" ], [ "short ears", "short ear" ] ], "xref": [ "UMLS:C3551041" ], "is_a": [ "HP:0000377" ], "is_obsolete": "", "replace_id": "" }, "HP:0400007": { "name": [ "polymenorrhea", "polymenorrhea" ], "alt_id": [], "def": "Frequent menses; menstrual cycles lasting less than 21 days.", "synonym": [], "xref": [ "MSH:D008599", "SNOMEDCT_US:52754008", "UMLS:C0032519" ], "is_a": [ "HP:0000140" ], "is_obsolete": "", "replace_id": "" }, "HP:0400008": { "name": [ "menometrorrhagia", "menometrorrhagia" ], "alt_id": [], "def": "Prolonged/excessive menses and bleeding at irregular intervals.", "synonym": [], "xref": [ "SNOMEDCT_US:314631008", "SNOMEDCT_US:351814001", "UMLS:C0232943" ], "is_a": [ "HP:0000140" ], "is_obsolete": "", "replace_id": "" }, "HP:0410000": { "name": [ "abnormality of vomer", "abnormality of vomer" ], "alt_id": [], "def": "An abnormality of the vomer.", "synonym": [ [ "abnormality of vomer bone", "abnormality of vomer bone" ], [ "defect of vomer", "defect of vomer" ] ], "xref": [ "UMLS:C4020914" ], "is_a": [ "HP:0011821" ], "is_obsolete": "", "replace_id": "" }, "HP:0410003": { "name": [ "cleft maxillary alveolus", "cleft maxillary alveolus" ], "alt_id": [], "def": "Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.", "synonym": [ [ "alveolar cleft", "alveolar cleft" ], [ "cleft alveolar process of maxilla", "cleft alveolar process of maxilla" ], [ "cleft anterior maxilla", "cleft anterior maxilla" ], [ "cleft primary palate", "cleft primary palate" ] ], "xref": [ "SNOMEDCT_US:109546001", "UMLS:C0432084", "UMLS:C4280276" ], "is_a": [ "HP:0000202" ], "is_obsolete": "", "replace_id": "" }, "HP:0410004": { "name": [ "obsolete cleft secondary palate", "obsolete cleft secondary palate" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000175" }, "HP:0410005": { "name": [ "cleft hard palate", "cleft hard palate" ], "alt_id": [], "def": "", "synonym": [ [ "cleft bony palate", "cleft bony palate" ], [ "cleft of hard palate", "cleft of hard palate" ] ], "xref": [ "SNOMEDCT_US:448915004", "UMLS:C0432090" ], "is_a": [ "HP:0000175" ], "is_obsolete": "", "replace_id": "" }, "HP:0410006": { "name": [ "abnormality of ophthalmic artery", "abnormality of ophthalmic artery" ], "alt_id": [], "def": "Abnormality of the first branch of the internal carotid artery.", "synonym": [ [ "ophthalmic artery anomaly", "ophthalmic artery anomaly" ] ], "xref": [ "UMLS:C4073185" ], "is_a": [ "HP:3000062" ], "is_obsolete": "", "replace_id": "" }, "HP:0410007": { "name": [ "obsolete abnormality of cartilage morphology", "obsolete abnormality of cartilage morphology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0002763" }, "HP:0410008": { "name": [ "abnormality of the peripheral nervous system", "abnormality of the peripheral nervous system" ], "alt_id": [], "def": "Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.", "synonym": [ [ "abnormality of the peripheral nervous system", "abnormality of the peripheral nervous system" ] ], "xref": [ "UMLS:C4073187" ], "is_a": [ "HP:0000707" ], "is_obsolete": "", "replace_id": "" }, "HP:0410009": { "name": [ "abnormality of the somatic nervous system", "abnormality of the somatic nervous system" ], "alt_id": [], "def": "Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements.", "synonym": [], "xref": [ "UMLS:C4073188" ], "is_a": [ "HP:0410008" ], "is_obsolete": "", "replace_id": "" }, "HP:0410010": { "name": [ "abnormality of somatic nerve plexus", "abnormality of somatic nerve plexus" ], "alt_id": [], "def": "Any abnormality of the somatic nerve plexus.", "synonym": [], "xref": [ "UMLS:C4073189" ], "is_a": [ "HP:0410009" ], "is_obsolete": "", "replace_id": "" }, "HP:0410011": { "name": [ "abnormality of masticatory muscle", "abnormality of masticatory muscle" ], "alt_id": [], "def": "Any abnormality of the masticatory muscle.", "synonym": [ [ "abnormality of muscles of mastication", "abnormality of muscle of mastication" ] ], "xref": [ "UMLS:C4073190" ], "is_a": [ "HP:0045037" ], "is_obsolete": "", "replace_id": "" }, "HP:0410012": { "name": [ "abnormal mouth floor morphology", "abnormal mouth floor morphology" ], "alt_id": [], "def": "Any abnormality of the mouth floor.", "synonym": [ [ "abnormality of the floor of mouth", "abnormality of the floor of mouth" ], [ "abnormality of the mouth floor", "abnormality of the mouth floor" ] ], "xref": [ "UMLS:C4073191" ], "is_a": [ "HP:0000163" ], "is_obsolete": "", "replace_id": "" }, "HP:0410013": { "name": [ "abnormality of the submandibular region", "abnormality of the submandibular region" ], "alt_id": [], "def": "Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery.", "synonym": [], "xref": [ "UMLS:C4073192" ], "is_a": [ "HP:0000271" ], "is_obsolete": "", "replace_id": "" }, "HP:0410014": { "name": [ "abnormality of ganglion", "abnormality of ganglion" ], "alt_id": [], "def": "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system.", "synonym": [], "xref": [ "UMLS:C4073193" ], "is_a": [ "HP:0000707" ], "is_obsolete": "", "replace_id": "" }, "HP:0410015": { "name": [ "abnormality of ganglion of peripheral nervous system", "abnormality of ganglion of peripheral nervous system" ], "alt_id": [], "def": "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system.", "synonym": [], "xref": [ "UMLS:C4073194" ], "is_a": [ "HP:0410014" ], "is_obsolete": "", "replace_id": "" }, "HP:0410016": { "name": [ "abnormality of cranial ganglion", "abnormality of cranial ganglion" ], "alt_id": [], "def": "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium.", "synonym": [], "xref": [ "UMLS:C4073195" ], "is_a": [ "HP:0410014" ], "is_obsolete": "", "replace_id": "" }, "HP:0410017": { "name": [ "otitis externa", "otitis externa" ], "alt_id": [], "def": "Inflammation or infection of the external auditory canal (EAC), the auricle, or both.", "synonym": [ [ "swimmer 's ear", "swimmer 's ear" ] ], "xref": [], "is_a": [ "HP:0000372" ], "is_obsolete": "", "replace_id": "" }, "HP:0410018": { "name": [ "recurrent ear infections", "recurrent ear infection" ], "alt_id": [], "def": "Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections.", "synonym": [ [ "frequent ear infections", "frequent ear infection" ], [ "recurrent ear infections", "recurrent ear infection" ] ], "xref": [], "is_a": [ "HP:0002719" ], "is_obsolete": "", "replace_id": "" }, "HP:0410019": { "name": [ "epigastric pain", "epigastric pain" ], "alt_id": [], "def": "Pain that is localized to the region of the upper abdomen immediately below the ribs.", "synonym": [ [ "epigastrium pain", "epigastrium pain" ] ], "xref": [], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0410020": { "name": [ "fish odor", "fish odor" ], "alt_id": [], "def": "Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals.", "synonym": [ [ "fish odour", "fish odour" ], [ "fishy body odor", "fishy body odor" ], [ "fishy body odour", "fishy body odour" ], [ "fishy odor", "fishy odor" ], [ "fishy odour", "fishy odour" ] ], "xref": [], "is_a": [ "HP:0500001" ], "is_obsolete": "", "replace_id": "" }, "HP:0410021": { "name": [ "musty odor", "musty odor" ], "alt_id": [], "def": "Pungent body odor.", "synonym": [ [ "musty odor", "musty odor" ], [ "musty odour", "musty odour" ] ], "xref": [], "is_a": [ "HP:0500001" ], "is_obsolete": "", "replace_id": "" }, "HP:0410022": { "name": [ "vaginal fish odor", "vaginal fish odor" ], "alt_id": [], "def": "A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA).", "synonym": [ [ "vaginal fish odor", "vaginal fish odor" ], [ "vaginal fish odour", "vaginal fish odour" ] ], "xref": [], "is_a": [ "HP:0410020" ], "is_obsolete": "", "replace_id": "" }, "HP:0410023": { "name": [ "abnormal distribution of cell junction proteins in buccal mucosal cells", "abnormal distribution of cell junction proteins in buccal mucosal cell" ], "alt_id": [], "def": "An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.", "synonym": [], "xref": [], "is_a": [ "HP:0031476", "HP:3000019" ], "is_obsolete": "", "replace_id": "" }, "HP:0410026": { "name": [ "abnormal periodontium morphology", "abnormal periodontium morphology" ], "alt_id": [], "def": "Any abnormality of the periodontium.", "synonym": [ [ "abnormality of the periodontium", "abnormality of the periodontium" ] ], "xref": [], "is_a": [ "HP:0000164" ], "is_obsolete": "", "replace_id": "" }, "HP:0410027": { "name": [ "alveolar bone loss around teeth", "alveolar bone loss around teeth" ], "alt_id": [], "def": "A decrease in the amount of alveolar bone around the root of a tooth.", "synonym": [ [ "bone loss around teeth", "bone loss around teeth" ] ], "xref": [], "is_a": [ "HP:0410026" ], "is_obsolete": "", "replace_id": "" }, "HP:0410028": { "name": [ "recurrent oral herpes", "recurrent oral herpes" ], "alt_id": [], "def": "Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus.", "synonym": [ [ "recurrent herpes labialis", "recurrent herpes labialis" ] ], "xref": [], "is_a": [ "HP:0005353" ], "is_obsolete": "", "replace_id": "" }, "HP:0410030": { "name": [ "cleft lip", "cleft lip" ], "alt_id": [], "def": "A gap in the lip or lips.", "synonym": [ [ "cleft lip", "cleft lip" ], [ "cleft of the lip", "cleft of the lip" ] ], "xref": [], "is_a": [ "HP:0000202" ], "is_obsolete": "", "replace_id": "" }, "HP:0410031": { "name": [ "submucous cleft of soft and hard palate", "submucous cleft of soft and hard palate" ], "alt_id": [], "def": "Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth.", "synonym": [], "xref": [], "is_a": [ "HP:0000175" ], "is_obsolete": "", "replace_id": "" }, "HP:0410032": { "name": [ "obsolete cleft of uvula", "obsolete cleft of uvula" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0000193" }, "HP:0410033": { "name": [ "unilateral alveolar cleft of maxilla", "unilateral alveolar cleft of maxilla" ], "alt_id": [], "def": "One sided alveolar cleft of the maxilla.", "synonym": [], "xref": [], "is_a": [ "HP:0010289" ], "is_obsolete": "", "replace_id": "" }, "HP:0410034": { "name": [ "bilateral alveolar cleft of maxilla", "bilateral alveolar cleft of maxilla" ], "alt_id": [], "def": "Nonmidline alveolar cleft of the maxilla.", "synonym": [], "xref": [], "is_a": [ "HP:0010289" ], "is_obsolete": "", "replace_id": "" }, "HP:0410035": { "name": [ "abnormal t cell activation", "abnormal t cell activation" ], "alt_id": [], "def": "Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.", "synonym": [ [ "abnormal t lymphocyte activation", "abnormal t lymphocyte activation" ], [ "abnormal t - cell activation", "abnormal t - cell activation" ], [ "abnormal t - lymphocyte activation", "abnormal t - lymphocyte activation" ] ], "xref": [], "is_a": [ "HP:0011840" ], "is_obsolete": "", "replace_id": "" }, "HP:0410042": { "name": [ "abnormal liver morphology", "abnormal liver morphology" ], "alt_id": [], "def": "Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.", "synonym": [], "xref": [ "Fyler:4447" ], "is_a": [ "HP:0001392" ], "is_obsolete": "", "replace_id": "" }, "HP:0410043": { "name": [ "abnormal neural tube morphology", "abnormal neural tube morphology" ], "alt_id": [], "def": "Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).", "synonym": [], "xref": [ "Fyler:4339" ], "is_a": [ "HP:0002011" ], "is_obsolete": "", "replace_id": "" }, "HP:0410049": { "name": [ "abnormality of radial ray", "abnormality of radial ray" ], "alt_id": [], "def": "", "synonym": [ [ "deformity of radial ray", "deformity of radial ray" ], [ "radial ray abnormality", "radial ray abnormality" ], [ "radial ray anomaly", "radial ray anomaly" ], [ "radial ray deformity", "radial ray deformity" ] ], "xref": [], "is_a": [ "HP:0002813" ], "is_obsolete": "", "replace_id": "" }, "HP:0410050": { "name": [ "decreased level of 1,5 anhydroglucitol in serum", "decrease level of 1,5 anhydroglucitol in serum" ], "alt_id": [], "def": "A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues.", "synonym": [ [ "decreased level of 1,5 - ag in serum", "decrease level of 1,5 - ag in serum" ], [ "decreased level of 1,5 - anhydro - d - glucitol in serum", "decrease level of 1,5 - anhydro - d - glucitol in serum" ], [ "decreased level of 1,5 - anhydroglucitol in serum", "decrease level of 1,5 - anhydroglucitol in serum" ] ], "xref": [], "is_a": [ "HP:0011013" ], "is_obsolete": "", "replace_id": "" }, "HP:0410051": { "name": [ "increased level of 3 - hydroxy - 3 - methylglutaric acid in urine", "increase level of 3 - hydroxy - 3 - methylglutaric acid in urine" ], "alt_id": [], "def": "An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0003215" ], "is_obsolete": "", "replace_id": "" }, "HP:0410052": { "name": [ "increased level of allantoin in serum", "increase level of allantoin in serum" ], "alt_id": [], "def": "An increase in the level of allantoin in the serum.", "synonym": [], "xref": [], "is_a": [ "HP:0004364" ], "is_obsolete": "", "replace_id": "" }, "HP:0410053": { "name": [ "elevated circulating gamma - aminobutyric acid concentration", "elevate circulate gamma - aminobutyric acid concentration" ], "alt_id": [ "HP:0032529" ], "def": "An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation.", "synonym": [ [ "increased circulating gaba concentration", "increase circulate gaba concentration" ], [ "increased level of gaba in serum", "increase level of gaba in serum" ], [ "increased level of gamma - aminobutyric acid in serum", "increase level of gamma - aminobutyric acid in serum" ] ], "xref": [], "is_a": [ "HP:0034025" ], "is_obsolete": "", "replace_id": "" }, "HP:0410054": { "name": [ "decreased circulating gaba concentration", "decrease circulate gaba concentration" ], "alt_id": [], "def": "A decrease in the level of GABA in the serum.", "synonym": [ [ "decreased circulating gaba concentration", "decrease circulate gaba concentration" ], [ "decreased level of gamma - aminobutyric acid in serum", "decrease level of gamma - aminobutyric acid in serum" ] ], "xref": [], "is_a": [ "HP:0034025" ], "is_obsolete": "", "replace_id": "" }, "HP:0410055": { "name": [ "decreased level of erythritol in urine", "decrease level of erythritol in urine" ], "alt_id": [], "def": "A decrease in the level of erythritol in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031979" ], "is_obsolete": "", "replace_id": "" }, "HP:0410056": { "name": [ "decreased level of erythritol in csf", "decrease level of erythritol in csf" ], "alt_id": [], "def": "A decrease in the level of erythritol in the cerebrospinal fluid.", "synonym": [ [ "decreased level of erythritol in cerebrospinal fluid", "decrease level of erythritol in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0025454", "HP:0032207" ], "is_obsolete": "", "replace_id": "" }, "HP:0410057": { "name": [ "increased level of d - threitol in plasma", "increase level of d - threitol in plasma" ], "alt_id": [], "def": "An increase in the level of D-threitol in the plasma.", "synonym": [], "xref": [], "is_a": [ "HP:0011013" ], "is_obsolete": "", "replace_id": "" }, "HP:0410058": { "name": [ "increased level of d - threitol in csf", "increase level of d - threitol in csf" ], "alt_id": [], "def": "An increase in the level of D-threitol in the cerebrospinal fluid.", "synonym": [ [ "increased level of d - threitol in cerebrospinal fluid", "increase level of d - threitol in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0025454", "HP:0032207" ], "is_obsolete": "", "replace_id": "" }, "HP:0410059": { "name": [ "increased level of d - threitol in urine", "increase level of d - threitol in urine" ], "alt_id": [], "def": "An increase in the level of D-threitol in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031979" ], "is_obsolete": "", "replace_id": "" }, "HP:0410060": { "name": [ "decreased level of d - mannose in urine", "decrease level of d - mannose in urine" ], "alt_id": [], "def": "A decrease in the level of D-mannose in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031979" ], "is_obsolete": "", "replace_id": "" }, "HP:0410061": { "name": [ "increased level of galactitol in plasma", "increase level of galactitol in plasma" ], "alt_id": [], "def": "An increase in the level of galactitol in the plasma.", "synonym": [], "xref": [], "is_a": [ "HP:0011013" ], "is_obsolete": "", "replace_id": "" }, "HP:0410062": { "name": [ "increased level of galactitol in urine", "increase level of galactitol in urine" ], "alt_id": [], "def": "An increase in the level of galactitol in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031979" ], "is_obsolete": "", "replace_id": "" }, "HP:0410063": { "name": [ "increased level of galactonate in red blood cells", "increase level of galactonate in red blood cell" ], "alt_id": [], "def": "An increase in the level of galactonate in the red blood cells.", "synonym": [ [ "increased level of galactonate in erythrocytes", "increase level of galactonate in erythrocyte" ], [ "increased level of galactonate in rbcs", "increase level of galactonate in rbc" ] ], "xref": [], "is_a": [ "HP:0004354" ], "is_obsolete": "", "replace_id": "" }, "HP:0410064": { "name": [ "increased level of galactitol in red blood cells", "increase level of galactitol in red blood cell" ], "alt_id": [], "def": "An increase in the level of galactitol in the red blood cells.", "synonym": [ [ "increased level of galactitol in erythrocytes", "increase level of galactitol in erythrocyte" ] ], "xref": [], "is_a": [ "HP:0011013" ], "is_obsolete": "", "replace_id": "" }, "HP:0410065": { "name": [ "increased level of hippuric acid in blood", "increase level of hippuric acid in blood" ], "alt_id": [], "def": "An increase in the level of hippuric acid in the blood.", "synonym": [ [ "increased level of n - benzoylglycine in blood", "increase level of n - benzoylglycine in blood" ] ], "xref": [], "is_a": [ "HP:0004354" ], "is_obsolete": "", "replace_id": "" }, "HP:0410066": { "name": [ "increased level of hippuric acid in urine", "increase level of hippuric acid in urine" ], "alt_id": [], "def": "An increase in the level of hippuric acid in the urine.", "synonym": [ [ "increased level of n - benzoylglycine in urine", "increase level of n - benzoylglycine in urine" ] ], "xref": [], "is_a": [ "HP:0031980" ], "is_obsolete": "", "replace_id": "" }, "HP:0410067": { "name": [ "increased level of l - fucose in urine", "increase level of l - fucose in urine" ], "alt_id": [], "def": "An increase in the level of L-fucose in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031979" ], "is_obsolete": "", "replace_id": "" }, "HP:0410068": { "name": [ "increased level of l - glutamic acid in blood", "increase level of l - glutamic acid in blood" ], "alt_id": [], "def": "An increase in the level of L-glutamic acid in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0500148" ], "is_obsolete": "", "replace_id": "" }, "HP:0410069": { "name": [ "increased level of propylene glycol in blood", "increase level of propylene glycol in blood" ], "alt_id": [], "def": "An increase in the level of propylene glycol in the blood.", "synonym": [ [ "increased level of propane - 1,2 - diol in blood", "increase level of propane - 1,2 - diol in blood" ] ], "xref": [], "is_a": [ "HP:0032180" ], "is_obsolete": "", "replace_id": "" }, "HP:0410070": { "name": [ "increased level of ribitol in urine", "increase level of ribitol in urine" ], "alt_id": [], "def": "An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose.", "synonym": [], "xref": [], "is_a": [ "HP:0031979" ], "is_obsolete": "", "replace_id": "" }, "HP:0410071": { "name": [ "increased level of ribitol in csf", "increase level of ribitol in csf" ], "alt_id": [], "def": "An increase in the level of ribitol in the cerebral spinal fluid.", "synonym": [ [ "increased level of ribitol in cerebrospinal fluid", "increase level of ribitol in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0032207" ], "is_obsolete": "", "replace_id": "" }, "HP:0410072": { "name": [ "increased level of ribose in urine", "increase level of ribose in urine" ], "alt_id": [], "def": "An increase in the level of ribose in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031979" ], "is_obsolete": "", "replace_id": "" }, "HP:0410073": { "name": [ "increased level of ribose in csf", "increase level of ribose in csf" ], "alt_id": [], "def": "An increase in the level of ribose in the cerebrospinal fluid.", "synonym": [ [ "increased level of ribose in cerebrospinal fluid", "increase level of ribose in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0032207" ], "is_obsolete": "", "replace_id": "" }, "HP:0410074": { "name": [ "increased level of xylitol in urine", "increase level of xylitol in urine" ], "alt_id": [], "def": "An increase in the level of xylitol in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031979" ], "is_obsolete": "", "replace_id": "" }, "HP:0410075": { "name": [ "increased level of xylitol in csf", "increase level of xylitol in csf" ], "alt_id": [], "def": "An increase in the level of xylitol in the cerebrospinal fluid.", "synonym": [ [ "increased level of xylitol in cerebrospinal fluid", "increase level of xylitol in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0032207" ], "is_obsolete": "", "replace_id": "" }, "HP:0410132": { "name": [ "increased level of l - pyroglutamic acid in urine", "increase level of l - pyroglutamic acid in urine" ], "alt_id": [], "def": "An increase in the level of L-pyroglutamic acid in the urine.", "synonym": [ [ "elevated urine 5 - oxoproline", "elevate urine 5 - oxoproline" ], [ "increased level of 5 - oxo - l - proline in urine", "increase level of 5 - oxo - l - proline in urine" ] ], "xref": [], "is_a": [ "HP:0033097" ], "is_obsolete": "", "replace_id": "" }, "HP:0410133": { "name": [ "chronic idiopathic urticaria", "chronic idiopathic urticaria" ], "alt_id": [], "def": "Urticaria characterized by spontaneously recurring hives for 6 weeks or longer.", "synonym": [ [ "chronic spontaneous urticaria", "chronic spontaneous urticaria" ] ], "xref": [], "is_a": [ "HP:0001025" ], "is_obsolete": "", "replace_id": "" }, "HP:0410134": { "name": [ "physical urticaria", "physical urticaria" ], "alt_id": [], "def": "Urticaria caused by physical agents, such as heat, cold, light, friction.", "synonym": [], "xref": [], "is_a": [ "HP:0001025" ], "is_obsolete": "", "replace_id": "" }, "HP:0410135": { "name": [ "cold urticaria", "cold urticaria" ], "alt_id": [], "def": "Urticaria may be caused by cold temperatures.", "synonym": [], "xref": [], "is_a": [ "HP:0410134" ], "is_obsolete": "", "replace_id": "" }, "HP:0410136": { "name": [ "aquagenic urticaria", "aquagenic urticaria" ], "alt_id": [], "def": "A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin.", "synonym": [], "xref": [], "is_a": [ "HP:0410134" ], "is_obsolete": "", "replace_id": "" }, "HP:0410137": { "name": [ "solar urticaria", "solar urticaria" ], "alt_id": [], "def": "Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light.", "synonym": [], "xref": [], "is_a": [ "HP:0000992", "HP:0410134" ], "is_obsolete": "", "replace_id": "" }, "HP:0410138": { "name": [ "vibratory urticaria", "vibratory urticaria" ], "alt_id": [], "def": "Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.", "synonym": [], "xref": [], "is_a": [ "HP:0410134" ], "is_obsolete": "", "replace_id": "" }, "HP:0410139": { "name": [ "exercise induced anaphylaxis", "exercise induce anaphylaxis" ], "alt_id": [], "def": "Anaphylaxis after physical activity.", "synonym": [], "xref": [], "is_a": [ "HP:0100845" ], "is_obsolete": "", "replace_id": "" }, "HP:0410144": { "name": [ "abnormal biotinidase level", "abnormal biotinidase level" ], "alt_id": [], "def": "An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.", "synonym": [], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0410145": { "name": [ "decreased biotinidase level", "decreased biotinidase level" ], "alt_id": [], "def": "A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.", "synonym": [], "xref": [], "is_a": [ "HP:0410144" ], "is_obsolete": "", "replace_id": "" }, "HP:0410146": { "name": [ "increased biotinidase level", "increased biotinidase level" ], "alt_id": [], "def": "An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.", "synonym": [], "xref": [], "is_a": [ "HP:0410144" ], "is_obsolete": "", "replace_id": "" }, "HP:0410147": { "name": [ "eosinophilic infiltration in the stomach mucosa", "eosinophilic infiltration in the stomach mucosa" ], "alt_id": [], "def": "Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia.", "synonym": [ [ "eosinophilic gastritis", "eosinophilic gastritis" ] ], "xref": [], "is_a": [ "HP:0005263", "HP:0032064" ], "is_obsolete": "", "replace_id": "" }, "HP:0410148": { "name": [ "idiopathic anaphylaxis", "idiopathic anaphylaxis" ], "alt_id": [], "def": "A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.", "synonym": [], "xref": [], "is_a": [ "HP:0100845" ], "is_obsolete": "", "replace_id": "" }, "HP:0410149": { "name": [ "drug - induced anaphylaxis", "drug - induce anaphylaxis" ], "alt_id": [], "def": "A form of anaphylaxis that is triggered by intake of drugs or medications.", "synonym": [ [ "drug induced anaphylaxis", "drug induce anaphylaxis" ] ], "xref": [], "is_a": [ "HP:0100845" ], "is_obsolete": "", "replace_id": "" }, "HP:0410151": { "name": [ "eosinophilic infiltration of the esophagus", "eosinophilic infiltration of the esophagus" ], "alt_id": [], "def": "Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.", "synonym": [ [ "eosinophilic esophagitis", "eosinophilic esophagitis" ], [ "eosinophilic infiltration of the oesophagus", "eosinophilic infiltration of the oesophagus" ] ], "xref": [], "is_a": [ "HP:0032064", "HP:0100633" ], "is_obsolete": "", "replace_id": "" }, "HP:0410152": { "name": [ "eosinophilic microabscess formation in the esophagus", "eosinophilic microabscess formation in the esophagus" ], "alt_id": [], "def": "The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques.", "synonym": [ [ "eosinophilic micro - abscess formation in the esophagus", "eosinophilic micro - abscess formation in the esophagus" ], [ "eosinophilic micro - abscess formation in the oesophagus", "eosinophilic micro - abscess formation in the oesophagus" ], [ "eosinophilic microabscess formation in the oesophagus", "eosinophilic microabscess formation in the oesophagus" ] ], "xref": [], "is_a": [ "HP:0100633" ], "is_obsolete": "", "replace_id": "" }, "HP:0410153": { "name": [ "increased level of methylsuccinic acid in urine", "increase level of methylsuccinic acid in urine" ], "alt_id": [], "def": "An increase in the level of methylsuccinic acid in the urine.", "synonym": [ [ "increased level of pyrotartaric acid in urine", "increase level of pyrotartaric acid in urine" ] ], "xref": [], "is_a": [ "HP:0003215" ], "is_obsolete": "", "replace_id": "" }, "HP:0410154": { "name": [ "increased level of myristic acid in serum", "increase level of myristic acid in serum" ], "alt_id": [], "def": "An increase in the level of myristic acid in the serum.", "synonym": [ [ "increased level of tetradecanoic acid in serum", "increase level of tetradecanoic acid in serum" ] ], "xref": [], "is_a": [ "HP:0010996" ], "is_obsolete": "", "replace_id": "" }, "HP:0410156": { "name": [ "increased level of n - acetylneuraminic acid in urine", "increase level of n - acetylneuraminic acid in urine" ], "alt_id": [], "def": "An increase in the level of N-acetylneuraminic acid in the urine.", "synonym": [ [ "increased level of nana in urine", "increase level of nana in urine" ], [ "increased level of neu5ac in urine", "increase level of neu5ac in urine" ] ], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0410157": { "name": [ "increased level of n - acetylneuraminic acid in fibroblasts", "increase level of n - acetylneuraminic acid in fibroblast" ], "alt_id": [], "def": "An increase in the level of N-acetylneuraminic acid in cultured fibroblasts.", "synonym": [ [ "increased level of nana in fibroblasts", "increase level of nana in fibroblast" ], [ "increased level of neu5ac in fibroblasts", "increase level of neu5ac in fibroblast" ], [ "increased level of sialic acid in fibroblasts", "increase level of sialic acid in fibroblast" ] ], "xref": [], "is_a": [ "HP:0032243" ], "is_obsolete": "", "replace_id": "" }, "HP:0410158": { "name": [ "increased urine o - phosphoethanolamine level", "increase urine o - phosphoethanolamine level" ], "alt_id": [], "def": "An increase in the level of O-phosphoethanolamine in the urine.", "synonym": [ [ "increased level of o - phosphoethanolamine in urine", "increase level of o - phosphoethanolamine in urine" ] ], "xref": [], "is_a": [ "HP:0003239" ], "is_obsolete": "", "replace_id": "" }, "HP:0410166": { "name": [ "defective interstrand cross - link repair", "defective interstrand cross - link repair" ], "alt_id": [], "def": "A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication.", "synonym": [], "xref": [], "is_a": [ "HP:0003254" ], "is_obsolete": "", "replace_id": "" }, "HP:0410167": { "name": [ "abnormal morphology of the chest musculature", "abnormal morphology of the chest musculature" ], "alt_id": [], "def": "Any abnormality of the chest muscles.", "synonym": [ [ "abnormality of the chest musculature", "abnormality of the chest musculature" ], [ "muscle issues in the chest", "muscle issue in the chest" ] ], "xref": [], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0410168": { "name": [ "abnormality of the back musculature", "abnormality of the back musculature" ], "alt_id": [], "def": "Any abnormality of the back muscles.", "synonym": [ [ "muscle issues in the back", "muscle issue in the back" ] ], "xref": [], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0410169": { "name": [ "abnormal morphology of the shoulder musculature", "abnormal morphology of the shoulder musculature" ], "alt_id": [], "def": "Any abnormality of the shoulder muscles.", "synonym": [ [ "abnormality of the shoulder musculature", "abnormality of the shoulder musculature" ], [ "muscle issues in the shoulder", "muscle issue in the shoulder" ] ], "xref": [], "is_a": [ "HP:0011805" ], "is_obsolete": "", "replace_id": "" }, "HP:0410170": { "name": [ "hippocampal atrophy", "hippocampal atrophy" ], "alt_id": [], "def": "Partial or complete wasting (loss) of hippocampus tissue that was once present.", "synonym": [ [ "atrophy of the hippocampus", "atrophy of the hippocampus" ], [ "degeneration of the hippocampus", "degeneration of the hippocampus" ] ], "xref": [], "is_a": [ "HP:0007112", "HP:0025100" ], "is_obsolete": "", "replace_id": "" }, "HP:0410171": { "name": [ "increased cotinine level", "increase cotinine level" ], "alt_id": [], "def": "Increased concentration of cotinine in urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031840" ], "is_obsolete": "", "replace_id": "" }, "HP:0410172": { "name": [ "blood xenobiotic", "blood xenobiotic" ], "alt_id": [], "def": "The presence of a xenobiotic in blood.", "synonym": [], "xref": [], "is_a": [ "HP:0031838" ], "is_obsolete": "", "replace_id": "" }, "HP:0410173": { "name": [ "increased circulating troponin i concentration", "increase circulate troponin i concentration" ], "alt_id": [], "def": "An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.", "synonym": [ [ "increased troponin i level in blood", "increase troponin i level in blood" ] ], "xref": [], "is_a": [ "HP:0500020" ], "is_obsolete": "", "replace_id": "" }, "HP:0410174": { "name": [ "increased circulating troponin t concentration", "increase circulate troponin t concentration" ], "alt_id": [], "def": "An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.", "synonym": [ [ "increased troponin t level in blood", "increase troponin t level in blood" ] ], "xref": [], "is_a": [ "HP:0500020" ], "is_obsolete": "", "replace_id": "" }, "HP:0410175": { "name": [ "hyperketonemia", "hyperketonemia" ], "alt_id": [], "def": "An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.", "synonym": [ [ "elevated circulating ketone body concentration", "elevate circulate ketone body concentration" ], [ "increased level of ketone bodies in blood", "increase level of ketone body in blood" ], [ "ketonemia", "ketonemia" ] ], "xref": [], "is_a": [ "HP:0001946" ], "is_obsolete": "", "replace_id": "" }, "HP:0410176": { "name": [ "abnormal glucose - 6 - phosphate dehydrogenase level", "abnormal glucose - 6 - phosphate dehydrogenase level" ], "alt_id": [], "def": "An anomaly in the level of glucose-6-phosphate dehydrogenase.", "synonym": [ [ "abnormal g6pd level", "abnormal g6pd level" ] ], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0410177": { "name": [ "abnormal glucose - 6 - phosphate dehydrogenase level in blood", "abnormal glucose - 6 - phosphate dehydrogenase level in blood" ], "alt_id": [], "def": "An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood.", "synonym": [ [ "abnormal g6pd level in blood", "abnormal g6pd level in blood" ] ], "xref": [], "is_a": [ "HP:0410176" ], "is_obsolete": "", "replace_id": "" }, "HP:0410178": { "name": [ "increased glucose - 6 - phosphate dehydrogenase level in blood", "increase glucose - 6 - phosphate dehydrogenase level in blood" ], "alt_id": [], "def": "An increase in the level of glucose-6-phosphate dehydrogenase in the blood.", "synonym": [ [ "increased g6pd level in blood", "increase g6pd level in blood" ] ], "xref": [], "is_a": [ "HP:0410177" ], "is_obsolete": "", "replace_id": "" }, "HP:0410179": { "name": [ "decreased glucose - 6 - phosphate dehydrogenase level in blood", "decrease glucose - 6 - phosphate dehydrogenase level in blood" ], "alt_id": [], "def": "A decrease in the level of glucose-6-phosphate dehydrogenase in the blood.", "synonym": [ [ "decreased g6pd level in blood", "decrease g6pd level in blood" ] ], "xref": [], "is_a": [ "HP:0410177" ], "is_obsolete": "", "replace_id": "" }, "HP:0410180": { "name": [ "abnormal glucose - 6 - phosphate dehydrogenase level in dried blood spot", "abnormal glucose - 6 - phosphate dehydrogenase level in dried blood spot" ], "alt_id": [], "def": "An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.", "synonym": [ [ "abnormal g6pd level in dried blood spot", "abnormal g6pd level in dried blood spot" ], [ "abnormal glucose - 6 - phosphate dehydrogenase level in dbs", "abnormal glucose - 6 - phosphate dehydrogenase level in db" ] ], "xref": [], "is_a": [ "HP:0410176" ], "is_obsolete": "", "replace_id": "" }, "HP:0410181": { "name": [ "increased glucose - 6 - phosphate dehydrogenase level in dried blood spot", "increase glucose - 6 - phosphate dehydrogenase level in dried blood spot" ], "alt_id": [], "def": "An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.", "synonym": [ [ "increased g6pd level in dried blood spot", "increase g6pd level in dried blood spot" ], [ "increased glucose - 6 - phosphate dehydrogenase level in dbs", "increase glucose - 6 - phosphate dehydrogenase level in db" ] ], "xref": [], "is_a": [ "HP:0410180" ], "is_obsolete": "", "replace_id": "" }, "HP:0410182": { "name": [ "decreased glucose - 6 - phosphate dehydrogenase level in dried blood spot", "decrease glucose - 6 - phosphate dehydrogenase level in dried blood spot" ], "alt_id": [], "def": "A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.", "synonym": [ [ "decreased g6pd level in dried blood spot", "decrease g6pd level in dried blood spot" ], [ "decreased glucose - 6 - phosphate dehydrogenase level in dbs", "decrease glucose - 6 - phosphate dehydrogenase level in db" ] ], "xref": [], "is_a": [ "HP:0410180" ], "is_obsolete": "", "replace_id": "" }, "HP:0410183": { "name": [ "abnormal glucose - 6 - phosphate dehydrogenase level in leukocytes", "abnormal glucose - 6 - phosphate dehydrogenase level in leukocyte" ], "alt_id": [], "def": "An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes.", "synonym": [ [ "abnormal g6pd level in leukocytes", "abnormal g6pd level in leukocyte" ] ], "xref": [], "is_a": [ "HP:0410176" ], "is_obsolete": "", "replace_id": "" }, "HP:0410184": { "name": [ "abnormal glucose - 6 - phosphate dehydrogenase level in red blood cells", "abnormal glucose - 6 - phosphate dehydrogenase level in red blood cell" ], "alt_id": [], "def": "An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells.", "synonym": [ [ "abnormal g6pd level in rbcs", "abnormal g6pd level in rbc" ], [ "abnormal g6pd level in red blood cells", "abnormal g6pd level in red blood cell" ] ], "xref": [], "is_a": [ "HP:0410176" ], "is_obsolete": "", "replace_id": "" }, "HP:0410185": { "name": [ "abnormal glucose - 6 - phosphate dehydrogenase level in tissue", "abnormal glucose - 6 - phosphate dehydrogenase level in tissue" ], "alt_id": [], "def": "An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue.", "synonym": [ [ "abnormal g6pd level in tissue", "abnormal g6pd level in tissue" ] ], "xref": [], "is_a": [ "HP:0410176" ], "is_obsolete": "", "replace_id": "" }, "HP:0410186": { "name": [ "increased glucose - 6 - phosphate dehydrogenase level in tissue", "increase glucose - 6 - phosphate dehydrogenase level in tissue" ], "alt_id": [], "def": "An increase in the level of glucose-6-phosphate dehydrogenase in tissue.", "synonym": [ [ "increased g6pd level in tissue", "increase g6pd level in tissue" ] ], "xref": [], "is_a": [ "HP:0410185" ], "is_obsolete": "", "replace_id": "" }, "HP:0410187": { "name": [ "decreased glucose - 6 - phosphate dehydrogenase level in tissue", "decrease glucose - 6 - phosphate dehydrogenase level in tissue" ], "alt_id": [], "def": "A decrease in the level of glucose-6-phosphate dehydrogenase in tissue.", "synonym": [ [ "decreased g6pd level in tissue", "decrease g6pd level in tissue" ] ], "xref": [], "is_a": [ "HP:0410185" ], "is_obsolete": "", "replace_id": "" }, "HP:0410188": { "name": [ "decreased glucose - 6 - phosphate dehydrogenase level in red blood cells", "decrease glucose - 6 - phosphate dehydrogenase level in red blood cell" ], "alt_id": [], "def": "A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells.", "synonym": [ [ "decreased g6pd level in rbcs", "decrease g6pd level in rbc" ], [ "decreased g6pd level in red blood cells", "decrease g6pd level in red blood cell" ] ], "xref": [], "is_a": [ "HP:0410184" ], "is_obsolete": "", "replace_id": "" }, "HP:0410189": { "name": [ "increased glucose - 6 - phosphate dehydrogenase level in red blood cells", "increase glucose - 6 - phosphate dehydrogenase level in red blood cell" ], "alt_id": [], "def": "An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells.", "synonym": [ [ "increased g6pd level in rbcs", "increase g6pd level in rbc" ], [ "increased g6pd level in red blood cells", "increase g6pd level in red blood cell" ] ], "xref": [], "is_a": [ "HP:0410184" ], "is_obsolete": "", "replace_id": "" }, "HP:0410190": { "name": [ "decreased glucose - 6 - phosphate dehydrogenase level in leukocytes", "decrease glucose - 6 - phosphate dehydrogenase level in leukocyte" ], "alt_id": [], "def": "A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes.", "synonym": [ [ "decreased g6pd level in leukocytes", "decrease g6pd level in leukocyte" ] ], "xref": [], "is_a": [ "HP:0410183" ], "is_obsolete": "", "replace_id": "" }, "HP:0410191": { "name": [ "increased glucose - 6 - phosphate dehydrogenase level in leukocytes", "increase glucose - 6 - phosphate dehydrogenase level in leukocyte" ], "alt_id": [], "def": "An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes.", "synonym": [ [ "increased g6pd level in leukocytes", "increase g6pd level in leukocyte" ] ], "xref": [], "is_a": [ "HP:0410183" ], "is_obsolete": "", "replace_id": "" }, "HP:0410192": { "name": [ "abnormal uridine diphosphate glucose - 4 - epimerase level", "abnormal uridine diphosphate glucose - 4 - epimerase level" ], "alt_id": [], "def": "An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose.", "synonym": [ [ "abnormal udp - glucose 4 - epimerase level", "abnormal udp - glucose 4 - epimerase level" ] ], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0410193": { "name": [ "abnormal uridine diphosphate glucose - 4 - epimerase level in plasma", "abnormal uridine diphosphate glucose - 4 - epimerase level in plasma" ], "alt_id": [], "def": "An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.", "synonym": [ [ "abnormal udp - glucose 4 - epimerase activity level in plasma", "abnormal udp - glucose 4 - epimerase activity level in plasma" ] ], "xref": [], "is_a": [ "HP:0410192" ], "is_obsolete": "", "replace_id": "" }, "HP:0410194": { "name": [ "increased uridine diphosphate glucose - 4 - epimerase level in plasma", "increase uridine diphosphate glucose - 4 - epimerase level in plasma" ], "alt_id": [], "def": "An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.", "synonym": [ [ "increased udp - glucose 4 - epimerase level in plasma", "increase udp - glucose 4 - epimerase level in plasma" ] ], "xref": [], "is_a": [ "HP:0410193" ], "is_obsolete": "", "replace_id": "" }, "HP:0410195": { "name": [ "decreased uridine diphosphate glucose - 4 - epimerase level in plasma", "decrease uridine diphosphate glucose - 4 - epimerase level in plasma" ], "alt_id": [], "def": "A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.", "synonym": [ [ "decreased udp - glucose 4 - epimerase level in plasma", "decrease udp - glucose 4 - epimerase level in plasma" ] ], "xref": [], "is_a": [ "HP:0410193" ], "is_obsolete": "", "replace_id": "" }, "HP:0410196": { "name": [ "abnormal uridine diphosphate glucose - 4 - epimerase level in red blood cells", "abnormal uridine diphosphate glucose - 4 - epimerase level in red blood cell" ], "alt_id": [], "def": "An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.", "synonym": [ [ "abnormal udp - glucose 4 - epimerase level in rbcs", "abnormal udp - glucose 4 - epimerase level in rbc" ], [ "abnormal udp - glucose 4 - epimerase level in red blood cells", "abnormal udp - glucose 4 - epimerase level in red blood cell" ] ], "xref": [], "is_a": [ "HP:0410192" ], "is_obsolete": "", "replace_id": "" }, "HP:0410197": { "name": [ "increased uridine diphosphate glucose - 4 - epimerase level in red blood cells", "increase uridine diphosphate glucose - 4 - epimerase level in red blood cell" ], "alt_id": [], "def": "An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.", "synonym": [ [ "increased udp - glucose 4 - epimerase level in rbcs", "increase udp - glucose 4 - epimerase level in rbc" ], [ "increased udp - glucose 4 - epimerase level in red blood cells", "increase udp - glucose 4 - epimerase level in red blood cell" ] ], "xref": [], "is_a": [ "HP:0410196" ], "is_obsolete": "", "replace_id": "" }, "HP:0410198": { "name": [ "decreased uridine diphosphate glucose - 4 - epimerase level in red blood cells", "decrease uridine diphosphate glucose - 4 - epimerase level in red blood cell" ], "alt_id": [], "def": "A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.", "synonym": [ [ "decreased udp - glucose 4 - epimerase level in rbcs", "decrease udp - glucose 4 - epimerase level in rbc" ], [ "decreased udp - glucose 4 - epimerase level in red blood cells", "decrease udp - glucose 4 - epimerase level in red blood cell" ] ], "xref": [], "is_a": [ "HP:0410196" ], "is_obsolete": "", "replace_id": "" }, "HP:0410199": { "name": [ "increased csf urate concentration", "increase csf urate concentration" ], "alt_id": [], "def": "Increased concentration of urate in the cerebrospinal fluid.", "synonym": [ [ "elevated csf urate concentration", "elevate csf urate concentration" ], [ "increased cerebrospinal fluid urate", "increase cerebrospinal fluid urate" ] ], "xref": [], "is_a": [ "HP:0500117" ], "is_obsolete": "", "replace_id": "" }, "HP:0410200": { "name": [ "positive meconium barbiturate test", "positive meconium barbiturate test" ], "alt_id": [], "def": "Detection of barbiturate metabolites such as phenobarbital in meconium.", "synonym": [], "xref": [], "is_a": [ "HP:0500098" ], "is_obsolete": "", "replace_id": "" }, "HP:0410201": { "name": [ "positive hair barbiturate test", "positive hair barbiturate test" ], "alt_id": [], "def": "Detection of barbiturate metabolites such as phenobarbital in the hair.", "synonym": [], "xref": [], "is_a": [ "HP:0500099" ], "is_obsolete": "", "replace_id": "" }, "HP:0410202": { "name": [ "positive stool barbiturate test", "positive stool barbiturate test" ], "alt_id": [], "def": "Detection of barbiturate metabolites such as phenobarbital in the stool.", "synonym": [], "xref": [], "is_a": [ "HP:0500097" ], "is_obsolete": "", "replace_id": "" }, "HP:0410203": { "name": [ "positive gastric fluid barbiturate test", "positive gastric fluid barbiturate test" ], "alt_id": [], "def": "Detection of barbiturate metabolites such as phenobarbital in the gastric fluid.", "synonym": [], "xref": [], "is_a": [ "HP:0500101" ], "is_obsolete": "", "replace_id": "" }, "HP:0410204": { "name": [ "increased intestinal transit time", "increase intestinal transit time" ], "alt_id": [], "def": "An increase in the length of time required for food to pass through the intestines.", "synonym": [], "xref": [], "is_a": [ "HP:0030896" ], "is_obsolete": "", "replace_id": "" }, "HP:0410205": { "name": [ "abnormal circulating nicotinurate concentration", "abnormal circulate nicotinurate concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of nicotinurate in the blood.", "synonym": [ [ "abnormal circulating n - nicotinoylglycine level", "abnormal circulate n - nicotinoylglycine level" ], [ "abnormal circulating nicotinurate level", "abnormal circulate nicotinurate level" ] ], "xref": [], "is_a": [ "HP:0004364" ], "is_obsolete": "", "replace_id": "" }, "HP:0410206": { "name": [ "increased circulating nicotinurate level", "increase circulate nicotinurate level" ], "alt_id": [], "def": "An increased amount of nicotinurate in the blood.", "synonym": [ [ "increased circulating n - nicotinoylglycine level", "increase circulate n - nicotinoylglycine level" ] ], "xref": [], "is_a": [ "HP:0410205" ], "is_obsolete": "", "replace_id": "" }, "HP:0410207": { "name": [ "positive methadone plasma / serum test", "positive methadone plasma / serum test" ], "alt_id": [], "def": "Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum.", "synonym": [], "xref": [], "is_a": [ "HP:0500100" ], "is_obsolete": "", "replace_id": "" }, "HP:0410208": { "name": [ "positive plasma / serum cotinine test", "positive plasma / serum cotinine test" ], "alt_id": [], "def": "Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum.", "synonym": [], "xref": [], "is_a": [ "HP:0500100" ], "is_obsolete": "", "replace_id": "" }, "HP:0410209": { "name": [ "folate deficiency in csf", "folate deficiency in csf" ], "alt_id": [], "def": "A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid.", "synonym": [ [ "folate deficiency in cerebrospinal fluid", "folate deficiency in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0012335" ], "is_obsolete": "", "replace_id": "" }, "HP:0410210": { "name": [ "abnormal cord blood measurement", "abnormal cord blood measurement" ], "alt_id": [], "def": "An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level.", "synonym": [], "xref": [], "is_a": [ "HP:0010881" ], "is_obsolete": "", "replace_id": "" }, "HP:0410211": { "name": [ "abnormal blood gas level in cord blood", "abnormal blood gas level in cord blood" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0410210" ], "is_obsolete": "", "replace_id": "" }, "HP:0410212": { "name": [ "hyperoxemia in cord blood", "hyperoxemia in cord blood" ], "alt_id": [], "def": "An abnormally high level of blood oxygen in the cord blood.", "synonym": [ [ "high cord blood oxygen level", "high cord blood oxygen level" ] ], "xref": [], "is_a": [ "HP:0500259" ], "is_obsolete": "", "replace_id": "" }, "HP:0410213": { "name": [ "hypoxemia in cord blood", "hypoxemia in cord blood" ], "alt_id": [], "def": "An abnormally low level of blood oxygen in the cord blood.", "synonym": [ [ "low cord blood oxygen level", "low cord blood oxygen level" ] ], "xref": [], "is_a": [ "HP:0500259" ], "is_obsolete": "", "replace_id": "" }, "HP:0410214": { "name": [ "hypercapnia in cord blood", "hypercapnia in cord blood" ], "alt_id": [], "def": "Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.", "synonym": [ [ "high cord blood carbon dioxide level", "high cord blood carbon dioxide level" ] ], "xref": [], "is_a": [ "HP:0500258" ], "is_obsolete": "", "replace_id": "" }, "HP:0410215": { "name": [ "hypocapnia in cord blood", "hypocapnia in cord blood" ], "alt_id": [], "def": "Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.", "synonym": [ [ "low cord blood carbon dioxide level", "low cord blood carbon dioxide level" ] ], "xref": [], "is_a": [ "HP:0500258" ], "is_obsolete": "", "replace_id": "" }, "HP:0410216": { "name": [ "abnormal blood 5 - methyltetrahydrofolate level", "abnormal blood 5 - methyltetrahydrofolate level" ], "alt_id": [], "def": "An abnormal concentration of 5-methyltetrahydrofolate in the blood.", "synonym": [ [ "abnormal serum methylfolate level", "abnormal serum methylfolate level" ] ], "xref": [], "is_a": [ "HP:0012335" ], "is_obsolete": "", "replace_id": "" }, "HP:0410217": { "name": [ "reduced blood 5 - methyltetrahydrofolate level", "reduce blood 5 - methyltetrahydrofolate level" ], "alt_id": [], "def": "A decreased concentration of 5-methyltetrahydrofolate in the blood.", "synonym": [ [ "reduced serum methylfolate level", "reduce serum methylfolate level" ] ], "xref": [], "is_a": [ "HP:0410216" ], "is_obsolete": "", "replace_id": "" }, "HP:0410218": { "name": [ "hypoplasia of maxilla relative to mandible", "hypoplasia of maxilla relative to mandible" ], "alt_id": [], "def": "Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw).", "synonym": [ [ "disorder of maxillary and mandibular dental arch relationship", "disorder of maxillary and mandibular dental arch relationship" ] ], "xref": [], "is_a": [ "HP:0000327" ], "is_obsolete": "", "replace_id": "" }, "HP:0410219": { "name": [ "hypoplasia of mandible relative to maxilla", "hypoplasia of mandible relative to maxilla" ], "alt_id": [], "def": "Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).", "synonym": [ [ "disorder of mandibular and maxillary dental arch relationship", "disorder of mandibular and maxillary dental arch relationship" ] ], "xref": [], "is_a": [ "HP:0000347" ], "is_obsolete": "", "replace_id": "" }, "HP:0410220": { "name": [ "increased anti - dairy protein ige antibody level", "increase anti - dairy protein ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products.", "synonym": [ [ "increased anti - dairy ige antibody level", "increase anti - dairy ige antibody level" ] ], "xref": [], "is_a": [ "HP:0410227" ], "is_obsolete": "", "replace_id": "" }, "HP:0410221": { "name": [ "increased anti - animal protein ige antibody level", "increase anti - animal protein ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine.", "synonym": [ [ "increased level of anti - animal protein ige antibody", "increase level of anti - animal protein ige antibody" ] ], "xref": [], "is_a": [ "HP:0032336" ], "is_obsolete": "", "replace_id": "" }, "HP:0410222": { "name": [ "increased anti - seafood ige antibody level", "increase anti - seafood ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone.", "synonym": [ [ "increased level of anti - seafood ige antibody", "increase level of anti - seafood ige antibody" ] ], "xref": [], "is_a": [ "HP:0410227" ], "is_obsolete": "", "replace_id": "" }, "HP:0410223": { "name": [ "increased anti - dust mite ige antibody level", "increase anti - dust mite ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against dust mites, such as house dust mites.", "synonym": [ [ "increased level of anti - dust mite ige antibody", "increase level of anti - dust mite ige antibody" ] ], "xref": [], "is_a": [ "HP:0032336" ], "is_obsolete": "", "replace_id": "" }, "HP:0410224": { "name": [ "increased anti - bacteria ige antibody level", "increase anti - bacteria ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against bacteria.", "synonym": [ [ "increased level of anti - bacteria ige antibody", "increase level of anti - bacteria ige antibody" ] ], "xref": [], "is_a": [ "HP:0032336" ], "is_obsolete": "", "replace_id": "" }, "HP:0410225": { "name": [ "increased anti - drug ige antibody level", "increase anti - drug ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against a drug or class of drugs, such as antibiotics.", "synonym": [ [ "increased level of anti - drug ige antibody", "increase level of anti - drug ige antibody" ] ], "xref": [], "is_a": [ "HP:0032336" ], "is_obsolete": "", "replace_id": "" }, "HP:0410226": { "name": [ "increased anti - feather ige antibody level", "increase anti - feather ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers.", "synonym": [], "xref": [], "is_a": [ "HP:0032336" ], "is_obsolete": "", "replace_id": "" }, "HP:0410227": { "name": [ "increased anti - food allergen ige antibody level", "increase anti - food allergen ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish.", "synonym": [ [ "increased level of anti - food allergen ige antibody", "increase level of anti - food allergen ige antibody" ] ], "xref": [], "is_a": [ "HP:0032336" ], "is_obsolete": "", "replace_id": "" }, "HP:0410228": { "name": [ "increased anti - plant based food allergen ige antibody level", "increase anti - plant base food allergen ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits.", "synonym": [ [ "increased level of anti - plant based food allergen ige antibody", "increase level of anti - plant base food allergen ige antibody" ] ], "xref": [], "is_a": [ "HP:0410227" ], "is_obsolete": "", "replace_id": "" }, "HP:0410229": { "name": [ "increased anti - gluten ige antibody level", "increase anti - gluten ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye.", "synonym": [ [ "increased level of anti - gluten ige antibody", "increase level of anti - gluten ige antibody" ] ], "xref": [], "is_a": [ "HP:0410227" ], "is_obsolete": "", "replace_id": "" }, "HP:0410230": { "name": [ "increased anti - nut food product ige antibody level", "increase anti - nut food product ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds.", "synonym": [], "xref": [], "is_a": [ "HP:0410227" ], "is_obsolete": "", "replace_id": "" }, "HP:0410231": { "name": [ "increased anti - egg ige antibody level", "increase anti - egg ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid.", "synonym": [], "xref": [], "is_a": [ "HP:0410227" ], "is_obsolete": "", "replace_id": "" }, "HP:0410232": { "name": [ "increased anti - fungi ige antibody level", "increase anti - fungi ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota.", "synonym": [ [ "increased anti - fungal ige antibody level", "increase anti - fungal ige antibody level" ], [ "increased anti - fungus ige antibody level", "increase anti - fungus ige antibody level" ] ], "xref": [], "is_a": [ "HP:0032336" ], "is_obsolete": "", "replace_id": "" }, "HP:0410233": { "name": [ "increased anti - meat allergen ige antibody level", "increase anti - meat allergen ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken.", "synonym": [], "xref": [], "is_a": [ "HP:0410227" ], "is_obsolete": "", "replace_id": "" }, "HP:0410234": { "name": [ "increased anti - parasite ige antibody level", "increase anti - parasite ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii.", "synonym": [], "xref": [], "is_a": [ "HP:0032336" ], "is_obsolete": "", "replace_id": "" }, "HP:0410235": { "name": [ "increased anti - insect ige antibody level", "increase anti - insect ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches.", "synonym": [], "xref": [], "is_a": [ "HP:0032336" ], "is_obsolete": "", "replace_id": "" }, "HP:0410236": { "name": [ "increased anti - venom ige antibody level", "increase anti - venom ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets.", "synonym": [], "xref": [], "is_a": [ "HP:0410235" ], "is_obsolete": "", "replace_id": "" }, "HP:0410238": { "name": [ "increased anti - plant product ige antibody level", "increase anti - plant product ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen.", "synonym": [], "xref": [], "is_a": [ "HP:0032336" ], "is_obsolete": "", "replace_id": "" }, "HP:0410239": { "name": [ "positive urine norcotinine test", "positive urine norcotinine test" ], "alt_id": [], "def": "Detection of norcotinine, a metabolite of nicotine, in urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031840" ], "is_obsolete": "", "replace_id": "" }, "HP:0410240": { "name": [ "abnormal circulating iga level", "abnormal circulate iga level" ], "alt_id": [], "def": "An abnormal deviation from normal levels of IgA immunoglobulin in blood.", "synonym": [ [ "abnormal iga level in blood", "abnormal iga level in blood" ] ], "xref": [], "is_a": [ "HP:0010701" ], "is_obsolete": "", "replace_id": "" }, "HP:0410241": { "name": [ "abnormal circulating ige level", "abnormal circulate ige level" ], "alt_id": [], "def": "An abnormal deviation from normal levels of IgE immunoglobulin in blood.", "synonym": [ [ "abnormal ige level in blood", "abnormal ige level in blood" ] ], "xref": [], "is_a": [ "HP:0010701" ], "is_obsolete": "", "replace_id": "" }, "HP:0410242": { "name": [ "abnormal circulating igg level", "abnormal circulate igg level" ], "alt_id": [], "def": "An abnormal deviation from normal levels of IgG immunoglobulin in blood.", "synonym": [ [ "abnormal igg level in blood", "abnormal igg level in blood" ] ], "xref": [], "is_a": [ "HP:0010701" ], "is_obsolete": "", "replace_id": "" }, "HP:0410243": { "name": [ "abnormal circulating igm level", "abnormal circulate igm level" ], "alt_id": [], "def": "An abnormal deviation from normal levels of IgM immunoglobulin in blood.", "synonym": [ [ "abnormal igm level in blood", "abnormal igm level in blood" ] ], "xref": [], "is_a": [ "HP:0010701" ], "is_obsolete": "", "replace_id": "" }, "HP:0410244": { "name": [ "abnormal circulating igd level", "abnormal circulate igd level" ], "alt_id": [], "def": "An abnormal deviation from normal levels of IgD immunoglobulin in blood.", "synonym": [ [ "abnormal igd level in blood", "abnormal igd level in blood" ] ], "xref": [], "is_a": [ "HP:0010701" ], "is_obsolete": "", "replace_id": "" }, "HP:0410245": { "name": [ "decreased circulating igd", "decrease circulating igd" ], "alt_id": [], "def": "An abnormally decreased level of immunoglobulin D (IgD) in blood.", "synonym": [ [ "decreased igd", "decrease igd" ], [ "decreased igd in blood", "decrease igd in blood" ], [ "igd deficiency", "igd deficiency" ] ], "xref": [], "is_a": [ "HP:0004313", "HP:0410244" ], "is_obsolete": "", "replace_id": "" }, "HP:0410246": { "name": [ "increased circulating igd level", "increase circulate igd level" ], "alt_id": [], "def": "An abnormally increased level of immunoglobulin D in blood.", "synonym": [ [ "elevated igd", "elevate igd" ], [ "elevated serum igd", "elevate serum igd" ], [ "igd hypergammaglobulinemia", "igd hypergammaglobulinemia" ], [ "increased igd level", "increase igd level" ], [ "increased levels of igd", "increased level of igd" ], [ "increased serum igd", "increase serum igd" ] ], "xref": [], "is_a": [ "HP:0010702", "HP:0410244" ], "is_obsolete": "", "replace_id": "" }, "HP:0410247": { "name": [ "increased anti - animal dander ige antibody level", "increase anti - animal dander ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats.", "synonym": [ [ "increased level of anti - dander ige antibody", "increase level of anti - dander ige antibody" ] ], "xref": [], "is_a": [ "HP:0410221" ], "is_obsolete": "", "replace_id": "" }, "HP:0410248": { "name": [ "increased anti - house dust mite ige antibody level", "increase anti - house dust mite ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against house dust mites, a common allergen.", "synonym": [ [ "increased anti - house dust ige antibody level", "increase anti - house dust ige antibody level" ], [ "increased level of anti - house dust ige antibody", "increase level of anti - house dust ige antibody" ] ], "xref": [], "is_a": [ "HP:0410223" ], "is_obsolete": "", "replace_id": "" }, "HP:0410249": { "name": [ "increased anti - alpha - gal ige antibody level", "increase anti - alpha - gal ige antibody level" ], "alt_id": [], "def": "Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat.", "synonym": [ [ "increased anti - galactose - alpha - 1 , 3 galactose ige antibody level", "increase anti - galactose - alpha - 1 , 3 galactose ige antibody level" ] ], "xref": [], "is_a": [ "HP:0032336" ], "is_obsolete": "", "replace_id": "" }, "HP:0410251": { "name": [ "abnormal l - selectin shedding", "abnormal l - selectin shed" ], "alt_id": [], "def": "An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection.", "synonym": [], "xref": [], "is_a": [ "HP:0011990" ], "is_obsolete": "", "replace_id": "" }, "HP:0410252": { "name": [ "chronic neutropenia", "chronic neutropenia" ], "alt_id": [], "def": "Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.", "synonym": [], "xref": [], "is_a": [ "HP:0001875" ], "is_obsolete": "", "replace_id": "" }, "HP:0410253": { "name": [ "myeloid maturation arrest", "myeloid maturation arrest" ], "alt_id": [], "def": "Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.", "synonym": [ [ "myeloid maturation arrest in bone marrow", "myeloid maturation arrest in bone marrow" ] ], "xref": [], "is_a": [ "HP:0033606" ], "is_obsolete": "", "replace_id": "" }, "HP:0410254": { "name": [ "cyclic neutropenia in myeloid maturation arrest in bone marrow", "cyclic neutropenia in myeloid maturation arrest in bone marrow" ], "alt_id": [], "def": "Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.", "synonym": [], "xref": [], "is_a": [ "HP:0040289" ], "is_obsolete": "", "replace_id": "" }, "HP:0410255": { "name": [ "transient neutropenia", "transient neutropenia" ], "alt_id": [], "def": "A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.", "synonym": [], "xref": [], "is_a": [ "HP:0001875" ], "is_obsolete": "", "replace_id": "" }, "HP:0410256": { "name": [ "infection associated neutropenia", "infection associate neutropenia" ], "alt_id": [], "def": "Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.", "synonym": [], "xref": [], "is_a": [ "HP:0410255" ], "is_obsolete": "", "replace_id": "" }, "HP:0410257": { "name": [ "neutrophilia in presence of infection", "neutrophilia in presence of infection" ], "alt_id": [], "def": "An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus.", "synonym": [], "xref": [], "is_a": [ "HP:0011897" ], "is_obsolete": "", "replace_id": "" }, "HP:0410258": { "name": [ "neutrophilia in absence of infection", "neutrophilia in absence of infection" ], "alt_id": [], "def": "An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders.", "synonym": [], "xref": [], "is_a": [ "HP:0011897" ], "is_obsolete": "", "replace_id": "" }, "HP:0410259": { "name": [ "hepatopulmonary fusion", "hepatopulmonary fusion" ], "alt_id": [], "def": "Fusion of the liver with the lung.", "synonym": [ [ "hepatic pulmonary fusion", "hepatic pulmonary fusion" ] ], "xref": [], "is_a": [ "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0410260": { "name": [ "asymmetrical gluteal crease", "asymmetrical gluteal crease" ], "alt_id": [], "def": "The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg.", "synonym": [ [ "asymmetrical buttock crease", "asymmetrical buttock crease" ], [ "asymmetrical gluteal sulcus", "asymmetrical gluteal sulcus" ], [ "asymmetrical horizontal gluteal crease", "asymmetrical horizontal gluteal crease" ] ], "xref": [], "is_a": [ "HP:0001437" ], "is_obsolete": "", "replace_id": "" }, "HP:0410261": { "name": [ "wide space between 4th and 5th toe", "wide space between 4th and 5th toe" ], "alt_id": [], "def": "A widely spaced gap between the fourth toe and the fifth (pinky) toe.", "synonym": [ [ "wide space between the 4th and 5th toe", "wide space between the 4th and 5th toe" ] ], "xref": [], "is_a": [ "HP:0010321" ], "is_obsolete": "", "replace_id": "" }, "HP:0410262": { "name": [ "lower cranial nerve dysfunction", "low cranial nerve dysfunction" ], "alt_id": [], "def": "A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves.", "synonym": [ [ "abnormal lower cranial nerve function", "abnormal low cranial nerve function" ] ], "xref": [], "is_a": [ "HP:0031910" ], "is_obsolete": "", "replace_id": "" }, "HP:0410263": { "name": [ "brain imaging abnormality", "brain imaging abnormality" ], "alt_id": [], "def": "An anomaly of metabolism or structure of the brain identified by imaging.", "synonym": [ [ "abnormal brain imaging", "abnormal brain imaging" ] ], "xref": [], "is_a": [ "HP:0012638" ], "is_obsolete": "", "replace_id": "" }, "HP:0410264": { "name": [ "subglottic hemangioma", "subglottic hemangioma" ], "alt_id": [], "def": "A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway.", "synonym": [ [ "airway hemangioma", "airway hemangioma" ] ], "xref": [], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0410265": { "name": [ "supraglottic hemangioma", "supraglottic hemangioma" ], "alt_id": [], "def": "A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords.", "synonym": [], "xref": [], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0410266": { "name": [ "visceral hemangioma", "visceral hemangioma" ], "alt_id": [], "def": "A hemangioma arising from within visceral structures, the internal organs of the body.", "synonym": [], "xref": [], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0410267": { "name": [ "intestinal hemangioma", "intestinal hemangioma" ], "alt_id": [], "def": "A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel.", "synonym": [ [ "bowel hemangioma", "bowel hemangioma" ], [ "intestinal hemangioma", "intestinal hemangioma" ] ], "xref": [], "is_a": [ "HP:0410266" ], "is_obsolete": "", "replace_id": "" }, "HP:0410268": { "name": [ "spleen hemangioma", "spleen hemangioma" ], "alt_id": [], "def": "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen.", "synonym": [ [ "splenic hemangioma", "splenic hemangioma" ] ], "xref": [], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0410269": { "name": [ "labial hemangioma", "labial hemangioma" ], "alt_id": [], "def": "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip.", "synonym": [], "xref": [], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0410270": { "name": [ "esophageal hemangioma", "esophageal hemangioma" ], "alt_id": [], "def": "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus.", "synonym": [], "xref": [], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0410271": { "name": [ "laryngeal hemangioma", "laryngeal hemangioma" ], "alt_id": [], "def": "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions.", "synonym": [ [ "throat hemangioma", "throat hemangioma" ] ], "xref": [], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0410272": { "name": [ "vulvar hemangioma", "vulvar hemangioma" ], "alt_id": [], "def": "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva.", "synonym": [], "xref": [], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0410273": { "name": [ "retropharyngeal hemangioma", "retropharyngeal hemangioma" ], "alt_id": [], "def": "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx.", "synonym": [], "xref": [ "NCIT:C3085" ], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0410274": { "name": [ "paraspinal hemangioma", "paraspinal hemangioma" ], "alt_id": [], "def": "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine.", "synonym": [], "xref": [], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0410275": { "name": [ "lumbosacral hemangioma", "lumbosacral hemangioma" ], "alt_id": [], "def": "A spinal cord hemangioma located in the lumbosacral spine region.", "synonym": [ [ "lumbar / sacral hemangioma", "lumbar / sacral hemangioma" ] ], "xref": [], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0410276": { "name": [ "supraumbilical raphe", "supraumbilical raphe" ], "alt_id": [], "def": "An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button).", "synonym": [ [ "midline supraumbilical raphe", "midline supraumbilical raphe" ] ], "xref": [], "is_a": [ "HP:0000766" ], "is_obsolete": "", "replace_id": "" }, "HP:0410277": { "name": [ "sternal pit", "sternal pit" ], "alt_id": [], "def": "A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum.", "synonym": [], "xref": [], "is_a": [ "HP:0000766" ], "is_obsolete": "", "replace_id": "" }, "HP:0410278": { "name": [ "pituitary gland cyst", "pituitary gland cyst" ], "alt_id": [], "def": "A fluid-filled sacs that develop on or near the pituitary gland.", "synonym": [ [ "cyst of the pituitary gland", "cyst of the pituitary gland" ] ], "xref": [], "is_a": [ "HP:0010576" ], "is_obsolete": "", "replace_id": "" }, "HP:0410279": { "name": [ "atrophic pituitary gland", "atrophic pituitary gland" ], "alt_id": [], "def": "Partial or complete wasting (loss) of the pituitary gland.", "synonym": [ [ "atrophic pituitary", "atrophic pituitary" ], [ "pituitary gland atrophy", "pituitary gland atrophy" ] ], "xref": [], "is_a": [ "HP:0012506" ], "is_obsolete": "", "replace_id": "" }, "HP:0410280": { "name": [ "pediatric onset", "pediatric onset" ], "alt_id": [], "def": "Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset.", "synonym": [ [ "onset before adulthood", "onset before adulthood" ], [ "paediatric onset", "paediatric onset" ] ], "xref": [], "is_a": [ "HP:0003674" ], "is_obsolete": "", "replace_id": "" }, "HP:0410281": { "name": [ "dyspepsia", "dyspepsia" ], "alt_id": [], "def": "A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur.", "synonym": [ [ "indigestion", "indigestion" ] ], "xref": [], "is_a": [ "HP:0002027" ], "is_obsolete": "", "replace_id": "" }, "HP:0410282": { "name": [ "abnormal circulating amylase level", "abnormal circulate amylase level" ], "alt_id": [], "def": "A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.", "synonym": [], "xref": [], "is_a": [ "HP:0010876" ], "is_obsolete": "", "replace_id": "" }, "HP:0410283": { "name": [ "positive blood acetaminophen test", "positive blood acetaminophen test" ], "alt_id": [], "def": "Detection of acetaminophen in the blood.", "synonym": [ [ "positive blood paracetamol test", "positive blood paracetamol test" ], [ "positive blood tylenol test", "positive blood tylenol test" ] ], "xref": [], "is_a": [ "HP:0410172" ], "is_obsolete": "", "replace_id": "" }, "HP:0410284": { "name": [ "positive norpropoxyphene blood test", "positive norpropoxyphene blood test" ], "alt_id": [], "def": "Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene.", "synonym": [], "xref": [], "is_a": [ "HP:0410172" ], "is_obsolete": "", "replace_id": "" }, "HP:0410285": { "name": [ "positive meconium methadone test", "positive meconium methadone test" ], "alt_id": [], "def": "Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium.", "synonym": [], "xref": [], "is_a": [ "HP:0500098" ], "is_obsolete": "", "replace_id": "" }, "HP:0410286": { "name": [ "positive blood molindone test", "positive blood molindone test" ], "alt_id": [], "def": "Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia.", "synonym": [ [ "positive blood moban test", "positive blood moban test" ] ], "xref": [], "is_a": [ "HP:0410172" ], "is_obsolete": "", "replace_id": "" }, "HP:0410287": { "name": [ "intrathoracic hemangioma", "intrathoracic hemangioma" ], "alt_id": [], "def": "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region.", "synonym": [ [ "chest hemangioma", "chest hemangioma" ] ], "xref": [], "is_a": [ "HP:0001028" ], "is_obsolete": "", "replace_id": "" }, "HP:0410288": { "name": [ "hyperamylasemia", "hyperamylasemia" ], "alt_id": [], "def": "Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.", "synonym": [ [ "increased circulating amylase level", "increase circulate amylase level" ] ], "xref": [], "is_a": [ "HP:0410282" ], "is_obsolete": "", "replace_id": "" }, "HP:0410289": { "name": [ "hypoamylasemia", "hypoamylasemia" ], "alt_id": [], "def": "Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.", "synonym": [ [ "decreased circulating amylase level", "decrease circulate amylase level" ] ], "xref": [], "is_a": [ "HP:0410282" ], "is_obsolete": "", "replace_id": "" }, "HP:0410290": { "name": [ "positive urine norpropoxyphene test", "positive urine norpropoxyphene test" ], "alt_id": [], "def": "Detection of norpropoxyphene in urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031840" ], "is_obsolete": "", "replace_id": "" }, "HP:0410291": { "name": [ "negativism", "negativism" ], "alt_id": [], "def": "Opposing or not responding to instructions or external stimuli.", "synonym": [], "xref": [], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:0410292": { "name": [ "abnormal isohemagglutinin level", "abnormal isohemagglutinin level" ], "alt_id": [], "def": "An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).", "synonym": [ [ "abnormal level of natural antibody to blood group agents", "abnormal level of natural antibody to blood group agent" ], [ "abnormal natural antibody level to blood group antigens in blood ( isohemagglutinin )", "abnormal natural antibody level to blood group antigen in blood ( isohemagglutinin )" ] ], "xref": [], "is_a": [ "HP:0012475" ], "is_obsolete": "", "replace_id": "" }, "HP:0410293": { "name": [ "absent isohemagglutinin level", "absent isohemagglutinin level" ], "alt_id": [], "def": "Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).", "synonym": [ [ "absent natural antibody to blood group agents", "absent natural antibody to blood group agent" ], [ "complete or near - complete absence of isohemagglutinins", "complete or near - complete absence of isohemagglutinins" ] ], "xref": [], "is_a": [ "HP:0410292" ], "is_obsolete": "", "replace_id": "" }, "HP:0410294": { "name": [ "decreased specific antibody response to protein vaccine", "decrease specific antibody response to protein vaccine" ], "alt_id": [], "def": "A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination.", "synonym": [], "xref": [], "is_a": [ "HP:0032140" ], "is_obsolete": "", "replace_id": "" }, "HP:0410295": { "name": [ "complete or near - complete absence of specific antibody response to tetanus vaccine", "complete or near - complete absence of specific antibody response to tetanus vaccine" ], "alt_id": [], "def": "The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.", "synonym": [], "xref": [], "is_a": [ "HP:0410294" ], "is_obsolete": "", "replace_id": "" }, "HP:0410296": { "name": [ "complete or near - complete absence of specific antibody response to hepatitis b vaccine", "complete or near - complete absence of specific antibody response to hepatitis b vaccine" ], "alt_id": [], "def": "The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination.", "synonym": [], "xref": [], "is_a": [ "HP:0410294" ], "is_obsolete": "", "replace_id": "" }, "HP:0410297": { "name": [ "partial absence of specific antibody response to tetanus vaccine", "partial absence of specific antibody response to tetanus vaccine" ], "alt_id": [], "def": "A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.", "synonym": [], "xref": [], "is_a": [ "HP:0410294" ], "is_obsolete": "", "replace_id": "" }, "HP:0410298": { "name": [ "partial absence of specific antibody response to hepatitis b vaccine", "partial absence of specific antibody response to hepatitis b vaccine" ], "alt_id": [], "def": "A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination.", "synonym": [], "xref": [], "is_a": [ "HP:0410294" ], "is_obsolete": "", "replace_id": "" }, "HP:0410299": { "name": [ "decreased specific antibody response to polysaccharide vaccine", "decrease specific antibody response to polysaccharide vaccine" ], "alt_id": [], "def": "A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination.", "synonym": [], "xref": [], "is_a": [ "HP:0032140" ], "is_obsolete": "", "replace_id": "" }, "HP:0410300": { "name": [ "complete or near - complete absence of specific antibody response to unconjugated pneumococcus vaccine", "complete or near - complete absence of specific antibody response to unconjugated pneumococcus vaccine" ], "alt_id": [], "def": "The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.", "synonym": [], "xref": [], "is_a": [ "HP:0410299" ], "is_obsolete": "", "replace_id": "" }, "HP:0410301": { "name": [ "partial absence of specific antibody response to unconjugated pneumococcus vaccine", "partial absence of specific antibody response to unconjugated pneumococcus vaccine" ], "alt_id": [], "def": "A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.", "synonym": [], "xref": [], "is_a": [ "HP:0410299" ], "is_obsolete": "", "replace_id": "" }, "HP:0410302": { "name": [ "decreased specific antibody response to protein - conjugated polysaccharide vaccine", "decrease specific antibody response to protein - conjugate polysaccharide vaccine" ], "alt_id": [], "def": "A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.", "synonym": [], "xref": [], "is_a": [ "HP:0032140" ], "is_obsolete": "", "replace_id": "" }, "HP:0410303": { "name": [ "complete or near - complete absence of specific antibody response to haemophilus influenzae type b ( hib ) vaccine", "complete or near - complete absence of specific antibody response to haemophilus influenzae type b ( hib ) vaccine" ], "alt_id": [], "def": "The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.", "synonym": [], "xref": [], "is_a": [ "HP:0410302" ], "is_obsolete": "", "replace_id": "" }, "HP:0410304": { "name": [ "complete or near - complete absence of specific antibody response to meningococcus vaccine", "complete or near - complete absence of specific antibody response to meningococcus vaccine" ], "alt_id": [], "def": "The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.", "synonym": [], "xref": [], "is_a": [ "HP:0410302" ], "is_obsolete": "", "replace_id": "" }, "HP:0410305": { "name": [ "partial absence of specific antibody response to haemophilus influenzae type b ( hib ) vaccine", "partial absence of specific antibody response to haemophilus influenzae type b ( hib ) vaccine" ], "alt_id": [], "def": "A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.", "synonym": [], "xref": [], "is_a": [ "HP:0410302" ], "is_obsolete": "", "replace_id": "" }, "HP:0410306": { "name": [ "partial absence of specific antibody response to meningococcus vaccine", "partial absence of specific antibody response to meningococcus vaccine" ], "alt_id": [], "def": "A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.", "synonym": [], "xref": [], "is_a": [ "HP:0410302" ], "is_obsolete": "", "replace_id": "" }, "HP:0410307": { "name": [ "positive stool methadone test", "positive stool methadone test" ], "alt_id": [], "def": "Detection of methadone and its metabolites in the stool.", "synonym": [], "xref": [], "is_a": [ "HP:0500097" ], "is_obsolete": "", "replace_id": "" }, "HP:0410308": { "name": [ "decreased specific antibody response to infection", "decrease specific antibody response to infection" ], "alt_id": [], "def": "A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection.", "synonym": [], "xref": [], "is_a": [ "HP:0012475" ], "is_obsolete": "", "replace_id": "" }, "HP:0410309": { "name": [ "alpha - aminoadipic aciduria", "alpha - aminoadipic aciduria" ], "alt_id": [], "def": "A increased concentration of alpha-aminoadipic acid in the urine.", "synonym": [ [ "2 - aminoadipic aciduria", "2 - aminoadipic aciduria" ] ], "xref": [], "is_a": [ "HP:0003215", "HP:0033098" ], "is_obsolete": "", "replace_id": "" }, "HP:0410310": { "name": [ "abnormality of neutrophil morphology in csf", "abnormality of neutrophil morphology in csf" ], "alt_id": [], "def": "An abnormal form or size of neutrophils in the cerebrospinal fluid.", "synonym": [ [ "abnormality of neutrophil morphology in cerebrospinal fluid", "abnormality of neutrophil morphology in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0002921" ], "is_obsolete": "", "replace_id": "" }, "HP:0410311": { "name": [ "hyposegmentation of neutrophil nuclei in csf", "hyposegmentation of neutrophil nucleus in csf" ], "alt_id": [], "def": "Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.", "synonym": [ [ "hyposegmentation of neutrophil nuclei in cerebrospinal fluid", "hyposegmentation of neutrophil nucleus in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0410310" ], "is_obsolete": "", "replace_id": "" }, "HP:0410312": { "name": [ "hypersegmentation of neutrophil nuclei in csf", "hypersegmentation of neutrophil nucleus in csf" ], "alt_id": [], "def": "An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid.", "synonym": [ [ "hypersegmentation of neutrophil nuclei in cerebrospinal fluid", "hypersegmentation of neutrophil nucleus in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0410310" ], "is_obsolete": "", "replace_id": "" }, "HP:0410313": { "name": [ "abnormal urinary 1 - methylhistidine concentration", "abnormal urinary 1 - methylhistidine concentration" ], "alt_id": [], "def": "Abnormal concentration of 1-methylhistidine in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033097" ], "is_obsolete": "", "replace_id": "" }, "HP:0410314": { "name": [ "decreased urinary 1 - methylhistidine", "decrease urinary 1 - methylhistidine" ], "alt_id": [], "def": "Decreased concentration of 1-methylhistidine in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0410313" ], "is_obsolete": "", "replace_id": "" }, "HP:0410315": { "name": [ "increased urinary 1 - methylhistidine", "increase urinary 1 - methylhistidine" ], "alt_id": [], "def": "Increased concentration of 1-methylhistidine in the urine.", "synonym": [ [ "1 - methylhistidinuria", "1 - methylhistidinuria" ] ], "xref": [], "is_a": [ "HP:0410313" ], "is_obsolete": "", "replace_id": "" }, "HP:0410316": { "name": [ "abnormal urinary 3 - methylhistidine level", "abnormal urinary 3 - methylhistidine level" ], "alt_id": [], "def": "Abnormal amount of 3-methylhistidine in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033097" ], "is_obsolete": "", "replace_id": "" }, "HP:0410317": { "name": [ "increased urinary 3 - methylhistidine", "increase urinary 3 - methylhistidine" ], "alt_id": [], "def": "Increased concentration of 3-methylhistidine in the urine.", "synonym": [ [ "3 - methylhistidinuria", "3 - methylhistidinuria" ] ], "xref": [], "is_a": [ "HP:0410316" ], "is_obsolete": "", "replace_id": "" }, "HP:0410318": { "name": [ "decreased urinary 3 - methylhistidine", "decrease urinary 3 - methylhistidine" ], "alt_id": [], "def": "Decreased concentration of 3-methylhistidine in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0410316" ], "is_obsolete": "", "replace_id": "" }, "HP:0410319": { "name": [ "alpha - gal allergy", "alpha - gal allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against alpha-gal.", "synonym": [ [ "allergy to alpha - gal", "allergy to alpha - gal" ], [ "alpha - gal allergy", "alpha - gal allergy" ], [ "ige - mediated alpha - gal allergy", "ige - mediate alpha - gal allergy" ], [ "immunoglobulin e - mediated alpha - gal allergy", "immunoglobulin e - mediate alpha - gal allergy" ] ], "xref": [], "is_a": [ "HP:0012393" ], "is_obsolete": "", "replace_id": "" }, "HP:0410320": { "name": [ "animal protein allergy", "animal protein allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against animal proteins.", "synonym": [ [ "allergy to animal proteins", "allergy to animal protein" ], [ "animal protein allergy", "animal protein allergy" ], [ "ige - mediated animal protein allergy", "ige - mediate animal protein allergy" ], [ "immunoglobulin e - mediated animal protein allergy", "immunoglobulin e - mediate animal protein allergy" ] ], "xref": [], "is_a": [ "HP:0012393" ], "is_obsolete": "", "replace_id": "" }, "HP:0410321": { "name": [ "animal dander allergy", "animal dander allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against animal dander.", "synonym": [ [ "allergy to animal dander", "allergy to animal dander" ], [ "animal dander allergy", "animal dander allergy" ], [ "ige - mediated animal dander allergy", "ige - mediate animal dander allergy" ], [ "immunoglobulin e - mediated animal dander allergy", "immunoglobulin e - mediate animal dander allergy" ] ], "xref": [], "is_a": [ "HP:0410320" ], "is_obsolete": "", "replace_id": "" }, "HP:0410322": { "name": [ "bacteria allergy", "bacteria allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against bacteria.", "synonym": [ [ "allergy to bacteria", "allergy to bacteria" ], [ "bacteria allergy", "bacteria allergy" ], [ "ige - mediated bacteria allergy", "ige - mediate bacteria allergy" ], [ "immunoglobulin e - mediated bacteria allergy", "immunoglobulin e - mediate bacteria allergy" ] ], "xref": [], "is_a": [ "HP:0012393" ], "is_obsolete": "", "replace_id": "" }, "HP:0410323": { "name": [ "drug allergy", "drug allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against drugs.", "synonym": [ [ "allergy to drugs", "allergy to drug" ], [ "drug allergy", "drug allergy" ], [ "ige - mediated drug allergy", "ige - mediate drug allergy" ], [ "immunoglobulin e - mediated drug allergy", "immunoglobulin e - mediate drug allergy" ] ], "xref": [], "is_a": [ "HP:0012393" ], "is_obsolete": "", "replace_id": "" }, "HP:0410324": { "name": [ "dust mite allergy", "dust mite allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against dust mites.", "synonym": [ [ "allergy to dust mites", "allergy to dust mite" ], [ "dust mite allergy", "dust mite allergy" ], [ "ige - mediated dust mite allergy", "ige - mediate dust mite allergy" ], [ "immunoglobulin e - mediated dust mite allergy", "immunoglobulin e - mediate dust mite allergy" ] ], "xref": [], "is_a": [ "HP:0012393" ], "is_obsolete": "", "replace_id": "" }, "HP:0410325": { "name": [ "house dust mite allergy", "house dust mite allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against house dust mites.", "synonym": [ [ "allergy to house dust mites", "allergy to house dust mite" ], [ "house dust mite allergy", "house dust mite allergy" ], [ "ige - mediated house dust mite allergy", "ige - mediate house dust mite allergy" ], [ "immunoglobulin e - mediated house dust mite allergy", "immunoglobulin e - mediate house dust mite allergy" ] ], "xref": [], "is_a": [ "HP:0410324" ], "is_obsolete": "", "replace_id": "" }, "HP:0410326": { "name": [ "feather allergy", "feather allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against feathers.", "synonym": [ [ "allergy to feathers", "allergy to feather" ], [ "feather allergy", "feather allergy" ], [ "ige - mediated feather allergy", "ige - mediate feather allergy" ], [ "immunoglobulin e - mediated feather allergy", "immunoglobulin e - mediate feather allergy" ] ], "xref": [], "is_a": [ "HP:0012393" ], "is_obsolete": "", "replace_id": "" }, "HP:0410327": { "name": [ "dairy allergy", "dairy allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against dairy.", "synonym": [ [ "allergy to dairy", "allergy to dairy" ], [ "dairy allergy", "dairy allergy" ], [ "ige - mediated dairy allergy", "ige - mediate dairy allergy" ], [ "immunoglobulin e - mediated dairy allergy", "immunoglobulin e - mediate dairy allergy" ] ], "xref": [], "is_a": [ "HP:0500093" ], "is_obsolete": "", "replace_id": "" }, "HP:0410328": { "name": [ "egg allergy", "egg allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against eggs.", "synonym": [ [ "allergy to eggs", "allergy to egg" ], [ "egg allergy", "egg allergy" ], [ "ige - mediated egg allergy", "ige - mediate egg allergy" ], [ "immunoglobulin e - mediated egg allergy", "immunoglobulin e - mediate egg allergy" ] ], "xref": [], "is_a": [ "HP:0500093" ], "is_obsolete": "", "replace_id": "" }, "HP:0410329": { "name": [ "gluten allergy", "gluten allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against gluten.", "synonym": [ [ "allergy to gluten", "allergy to gluten" ], [ "gluten allergy", "gluten allergy" ], [ "ige - mediated gluten allergy", "ige - mediate gluten allergy" ], [ "immunoglobulin e - mediated gluten allergy", "immunoglobulin e - mediate gluten allergy" ] ], "xref": [], "is_a": [ "HP:0500093" ], "is_obsolete": "", "replace_id": "" }, "HP:0410330": { "name": [ "meat allergen allergy", "meat allergen allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products.", "synonym": [ [ "allergy to meat allergens", "allergy to meat allergen" ], [ "ige - mediated meat allergen allergy", "ige - mediate meat allergen allergy" ], [ "immunoglobulin e - mediated meat allergen allergy", "immunoglobulin e - mediate meat allergen allergy" ], [ "meat allergen allergy", "meat allergen allergy" ], [ "meat allergy", "meat allergy" ] ], "xref": [], "is_a": [ "HP:0500093" ], "is_obsolete": "", "replace_id": "" }, "HP:0410331": { "name": [ "nut food product allergy", "nut food product allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against nut food products.", "synonym": [ [ "allergy to nut food products", "allergy to nut food product" ], [ "ige - mediated nut food product allergy", "ige - mediate nut food product allergy" ], [ "immunoglobulin e - mediated nut food product allergy", "immunoglobulin e - mediate nut food product allergy" ], [ "nut allergy", "nut allergy" ], [ "nut food product allergy", "nut food product allergy" ] ], "xref": [], "is_a": [ "HP:0410332" ], "is_obsolete": "", "replace_id": "" }, "HP:0410332": { "name": [ "plant based food allergy", "plant base food allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against plant based food allergens.", "synonym": [ [ "allergy to plant based food allergens", "allergy to plant base food allergen" ], [ "ige - mediated plant based food allergen allergy", "ige - mediate plant base food allergen allergy" ], [ "immunoglobulin e - mediated plant based food allergen allergy", "immunoglobulin e - mediate plant base food allergen allergy" ], [ "plant based food allergy", "plant base food allergy" ] ], "xref": [], "is_a": [ "HP:0500093" ], "is_obsolete": "", "replace_id": "" }, "HP:0410333": { "name": [ "seafood allergy", "seafood allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against seafood.", "synonym": [ [ "allergy to seafood", "allergy to seafood" ], [ "ige - mediated seafood allergy", "ige - mediate seafood allergy" ], [ "immunoglobulin e - mediated seafood allergy", "immunoglobulin e - mediate seafood allergy" ], [ "seafood allergy", "seafood allergy" ] ], "xref": [], "is_a": [ "HP:0500093" ], "is_obsolete": "", "replace_id": "" }, "HP:0410334": { "name": [ "fungi allergy", "fungi allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against fungus.", "synonym": [ [ "allergy to fungi", "allergy to fungi" ], [ "fungal allergy", "fungal allergy" ], [ "fungi allergy", "fungi allergy" ], [ "fungus allergy", "fungus allergy" ], [ "ige - mediated fungi allergy", "ige - mediate fungi allergy" ], [ "immunoglobulin e - mediated fungi allergy", "immunoglobulin e - mediate fungi allergy" ] ], "xref": [], "is_a": [ "HP:0012393" ], "is_obsolete": "", "replace_id": "" }, "HP:0410335": { "name": [ "insect allergy", "insect allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against insects.", "synonym": [ [ "allergy to insects", "allergy to insect" ], [ "ige - mediated insect allergy", "ige - mediate insect allergy" ], [ "immunoglobulin e - mediated insect allergy", "immunoglobulin e - mediate insect allergy" ], [ "insect allergy", "insect allergy" ] ], "xref": [], "is_a": [ "HP:0012393" ], "is_obsolete": "", "replace_id": "" }, "HP:0410336": { "name": [ "venom allergy", "venom allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against insect venom.", "synonym": [ [ "allergy to venom", "allergy to venom" ], [ "ige - mediated venom allergy", "ige - mediate venom allergy" ], [ "immunoglobulin e - mediated venom allergy", "immunoglobulin e - mediate venom allergy" ], [ "venom allergy", "venom allergy" ] ], "xref": [], "is_a": [ "HP:0410335" ], "is_obsolete": "", "replace_id": "" }, "HP:0410337": { "name": [ "parasite allergy", "parasite allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against parasites.", "synonym": [ [ "allergy to parasites", "allergy to parasite" ], [ "ige - mediated parasite allergy", "ige - mediate parasite allergy" ], [ "immunoglobulin e - mediated parasite allergy", "immunoglobulin e - mediate parasite allergy" ], [ "parasite allergy", "parasite allergy" ] ], "xref": [], "is_a": [ "HP:0012393" ], "is_obsolete": "", "replace_id": "" }, "HP:0410338": { "name": [ "plant product allergy", "plant product allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against plant products.", "synonym": [ [ "allergy to plant products", "allergy to plant product" ], [ "ige - mediated plant product allergy", "ige - mediate plant product allergy" ], [ "immunoglobulin e - mediated plant product allergy", "immunoglobulin e - mediate plant product allergy" ], [ "plant product allergy", "plant product allergy" ] ], "xref": [], "is_a": [ "HP:0012393" ], "is_obsolete": "", "replace_id": "" }, "HP:0410339": { "name": [ "insect bite allergy", "insect bite allergy" ], "alt_id": [], "def": "Hypersensitivity in form of an adverse immune reaction against insect bites.", "synonym": [ [ "allergy to insect bites", "allergy to insect bite" ], [ "ige - mediated insect bite allergy", "ige - mediate insect bite allergy" ], [ "immunoglobulin e - mediated insect bite allergy", "immunoglobulin e - mediate insect bite allergy" ], [ "insect bite allergy", "insect bite allergy" ] ], "xref": [], "is_a": [ "HP:0410335" ], "is_obsolete": "", "replace_id": "" }, "HP:0410340": { "name": [ "focal epithelial hyperplasia of oral mucosa", "focal epithelial hyperplasia of oral mucosa" ], "alt_id": [], "def": "The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate.", "synonym": [ [ "focal epithelial hyperplasia of the lining of mouth", "focal epithelial hyperplasia of the lining of mouth" ], [ "oral mucosa epithelial hyperplasia", "oral mucosa epithelial hyperplasia" ] ], "xref": [], "is_a": [ "HP:0011830" ], "is_obsolete": "", "replace_id": "" }, "HP:0410341": { "name": [ "abnormal circulating heparan sulfate level", "abnormal circulate heparan sulfate level" ], "alt_id": [], "def": "An abnormal level of heparan sulfate in the blood.", "synonym": [ [ "abnormal circulating heparan sulphate level", "abnormal circulate heparan sulphate level" ], [ "abnormality of the concentration of heparan sulfate in the blood", "abnormality of the concentration of heparan sulfate in the blood" ], [ "abnormality of the concentration of heparan sulphate in the blood", "abnormality of the concentration of heparan sulphate in the blood" ] ], "xref": [], "is_a": [ "HP:0011013" ], "is_obsolete": "", "replace_id": "" }, "HP:0410342": { "name": [ "increased circulating heparan sulfate level", "increase circulate heparan sulfate level" ], "alt_id": [], "def": "An abnormal increase in the concentration of heparan sulfate in the blood.", "synonym": [ [ "increased blood heparan sulfate concentration", "increase blood heparan sulfate concentration" ], [ "increased blood heparan sulphate concentration", "increase blood heparan sulphate concentration" ], [ "increased circulating heparan sulphate level", "increase circulate heparan sulphate level" ] ], "xref": [], "is_a": [ "HP:0410341" ], "is_obsolete": "", "replace_id": "" }, "HP:0410343": { "name": [ "decreased circulating heparan sulfate level", "decrease circulate heparan sulfate level" ], "alt_id": [], "def": "An abnormal decrease in the concentration of heparan sulfate in the blood.", "synonym": [ [ "decreased blood heparan sulfate concentration", "decrease blood heparan sulfate concentration" ], [ "decreased blood heparan sulphate concentration", "decrease blood heparan sulphate concentration" ], [ "decreased circulating heparan sulphate level", "decrease circulate heparan sulphate level" ] ], "xref": [], "is_a": [ "HP:0410341" ], "is_obsolete": "", "replace_id": "" }, "HP:0410344": { "name": [ "shortened o - fucosylated glycan on properdin", "shorten o - fucosylated glycan on properdin" ], "alt_id": [], "def": "Decreased length of O-fucosylated glycans present on properdin.", "synonym": [ [ "presence of terminal o - fucose glycans on properdin", "presence of terminal o - fucose glycans on properdin" ] ], "xref": [], "is_a": [ "HP:0012359" ], "is_obsolete": "", "replace_id": "" }, "HP:0410345": { "name": [ "increased urinary polyhexose", "increase urinary polyhexose" ], "alt_id": [], "def": "An abnormal increase in the concentration of polyhexose in the urine.", "synonym": [ [ "increased polyhexose concentration in urine", "increase polyhexose concentration in urine" ] ], "xref": [], "is_a": [ "HP:0010471" ], "is_obsolete": "", "replace_id": "" }, "HP:0410346": { "name": [ "increased urinary galactosylated oligosaccharide", "increase urinary galactosylated oligosaccharide" ], "alt_id": [], "def": "An abnormal increase in the concentration of galactosylated oligosaccharides in urine.", "synonym": [ [ "increased concentration of galactosylated oligosaccharides in urine", "increase concentration of galactosylated oligosaccharide in urine" ] ], "xref": [], "is_a": [ "HP:0010471" ], "is_obsolete": "", "replace_id": "" }, "HP:0410347": { "name": [ "increased urinary high - mannose - type oligosaccharide", "increase urinary high - mannose - type oligosaccharide" ], "alt_id": [], "def": "An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine.", "synonym": [ [ "increased concentration of high - mannose - type oligosaccharides in urine", "increase concentration of high - mannose - type oligosaccharide in urine" ] ], "xref": [], "is_a": [ "HP:0010471" ], "is_obsolete": "", "replace_id": "" }, "HP:0410348": { "name": [ "increased urinary multiantennary sialylated oligosaccharide", "increase urinary multiantennary sialylated oligosaccharide" ], "alt_id": [], "def": "An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine.", "synonym": [ [ "increase concentration of multiantennary sialylated oligosaccharides in urine", "increase concentration of multiantennary sialylated oligosaccharide in urine" ] ], "xref": [], "is_a": [ "HP:0010471" ], "is_obsolete": "", "replace_id": "" }, "HP:0410349": { "name": [ "decreased glycosyltransferase o - fucosylpeptide 3 - beta - n - acetylglucosaminyltransferase level", "decreased glycosyltransferase o - fucosylpeptide 3 - beta - n - acetylglucosaminyltransferase level" ], "alt_id": [], "def": "An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level.", "synonym": [], "xref": [], "is_a": [ "HP:0012379" ], "is_obsolete": "", "replace_id": "" }, "HP:0410350": { "name": [ "increased urinary fucosylated oligosaccharide", "increase urinary fucosylated oligosaccharide" ], "alt_id": [], "def": "An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine.", "synonym": [ [ "increased concentration of fucosylated oligosaccharides in urine", "increase concentration of fucosylated oligosaccharide in urine" ] ], "xref": [], "is_a": [ "HP:0010471" ], "is_obsolete": "", "replace_id": "" }, "HP:0410351": { "name": [ "abnormal complex n - glycan level", "abnormal complex n - glycan level" ], "alt_id": [], "def": "An abnormal concentration of complex N-glycans on glycoproteins.", "synonym": [ [ "abnormal concentration of complex n - glycans on glycoproteins", "abnormal concentration of complex n - glycans on glycoprotein" ] ], "xref": [], "is_a": [ "HP:0012347" ], "is_obsolete": "", "replace_id": "" }, "HP:0410352": { "name": [ "increased complex n - glycan level", "increase complex n - glycan level" ], "alt_id": [], "def": "An abnormal increase in the concentration of complex N-glycans on glycoproteins.", "synonym": [ [ "increased concentration of complex n - glycans on glycoproteins", "increase concentration of complex n - glycans on glycoprotein" ] ], "xref": [], "is_a": [ "HP:0410351" ], "is_obsolete": "", "replace_id": "" }, "HP:0410353": { "name": [ "decreased complex n - glycan level", "decrease complex n - glycan level" ], "alt_id": [], "def": "An abnormal decrease in the concentration of complex N-glycans on glycoproteins.", "synonym": [ [ "increased truncated complex n - glycans on glycoproteins", "increase truncate complex n - glycans on glycoprotein" ] ], "xref": [], "is_a": [ "HP:0410351" ], "is_obsolete": "", "replace_id": "" }, "HP:0410354": { "name": [ "increased sialylated n - glycan level", "increase sialylated n - glycan level" ], "alt_id": [], "def": "An abnormal increase in the concentration of sialylated N-glycans on glycoproteins.", "synonym": [ [ "increased concentration of sialylated n - glycans on glycoproteins", "increase concentration of sialylated n - glycans on glycoprotein" ] ], "xref": [], "is_a": [ "HP:0012349" ], "is_obsolete": "", "replace_id": "" }, "HP:0410355": { "name": [ "decreased sialylated n - glycan level", "decrease sialylated n - glycan level" ], "alt_id": [], "def": "An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins.", "synonym": [ [ "decreased concentration of sialylated n - glycans on glycoproteins", "decreased concentration of sialylated n - glycans on glycoprotein" ] ], "xref": [], "is_a": [ "HP:0012349" ], "is_obsolete": "", "replace_id": "" }, "HP:0410356": { "name": [ "abnormal high - mannose n - glycan level", "abnormal high - mannose n - glycan level" ], "alt_id": [], "def": "An abnormal concentration of high-mannose N-glycans on glycoproteins.", "synonym": [ [ "abnormal high - mannose n - glycans on glycoprotein concentration", "abnormal high - mannose n - glycans on glycoprotein concentration" ] ], "xref": [], "is_a": [ "HP:0012347" ], "is_obsolete": "", "replace_id": "" }, "HP:0410357": { "name": [ "increased high - mannose n - glycan level", "increase high - mannose n - glycan level" ], "alt_id": [], "def": "An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins.", "synonym": [ [ "increased high - mannose n - glycans on glycoprotein concentration", "increase high - mannose n - glycans on glycoprotein concentration" ] ], "xref": [], "is_a": [ "HP:0410356" ], "is_obsolete": "", "replace_id": "" }, "HP:0410358": { "name": [ "decreased high - mannose n - glycan level", "decrease high - mannose n - glycan level" ], "alt_id": [], "def": "An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins.", "synonym": [ [ "decreased high - mannose n - glycans on glycoprotein concentration", "decrease high - mannose n - glycans on glycoprotein concentration" ] ], "xref": [], "is_a": [ "HP:0410356" ], "is_obsolete": "", "replace_id": "" }, "HP:0410359": { "name": [ "abnormal core 1 o - glycan level", "abnormal core 1 o - glycan level" ], "alt_id": [], "def": "An abnormal in the concentration of core 1 O-glycans on glycoproteins.", "synonym": [ [ "abnormal concentration of t - antigen", "abnormal concentration of t - antigen" ] ], "xref": [], "is_a": [ "HP:0012358" ], "is_obsolete": "", "replace_id": "" }, "HP:0410360": { "name": [ "increased core 1 o - glycan level", "increase core 1 o - glycan level" ], "alt_id": [], "def": "An abnormal increase in the concentration of core 1 O-glycans on glycoproteins.", "synonym": [ [ "increased t - antigen concentration", "increase t - antigen concentration" ] ], "xref": [], "is_a": [ "HP:0410359" ], "is_obsolete": "", "replace_id": "" }, "HP:0410361": { "name": [ "decreased core 1 o - glycan level", "decrease core 1 o - glycan level" ], "alt_id": [], "def": "An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins.", "synonym": [ [ "decreased t - antigen concentration", "decrease t - antigen concentration" ] ], "xref": [], "is_a": [ "HP:0410359" ], "is_obsolete": "", "replace_id": "" }, "HP:0410362": { "name": [ "decreased o - mannosyl glycans on alpha - dystroglycan", "decrease o - mannosyl glycans on alpha - dystroglycan" ], "alt_id": [], "def": "Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix.", "synonym": [ [ "reduced o - mannosyl glycans on alpha - dystroglycan", "reduce o - mannosyl glycans on alpha - dystroglycan" ] ], "xref": [], "is_a": [ "HP:0012358" ], "is_obsolete": "", "replace_id": "" }, "HP:0410363": { "name": [ "increased monosialylated core 1 o - glycan level", "increase monosialylated core 1 o - glycan level" ], "alt_id": [], "def": "An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins.", "synonym": [ [ "increased sialyl t - antigen concentration", "increase sialyl t - antigen concentration" ] ], "xref": [], "is_a": [ "HP:0012362" ], "is_obsolete": "", "replace_id": "" }, "HP:0410364": { "name": [ "decreased monosialylated core 1 o - glycan level", "decrease monosialylated core 1 o - glycan level" ], "alt_id": [], "def": "An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins.", "synonym": [ [ "decreased sialyl t - antigen concentration", "decrease sialyl t - antigen concentration" ] ], "xref": [], "is_a": [ "HP:0012362" ], "is_obsolete": "", "replace_id": "" }, "HP:0410365": { "name": [ "increased disialylated core 1 o - glycan level", "increase disialylated core 1 o - glycan level" ], "alt_id": [], "def": "An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins.", "synonym": [ [ "increased disialyl t - antigen concentration", "increase disialyl t - antigen concentration" ] ], "xref": [], "is_a": [ "HP:0012362" ], "is_obsolete": "", "replace_id": "" }, "HP:0410366": { "name": [ "increased globoside gb4 level", "increase globoside gb4 level" ], "alt_id": [], "def": "An abnormal increase in the concentration of globoside Gb4.", "synonym": [ [ "increased globoside gb4 concentration", "increase globoside gb4 concentration" ] ], "xref": [], "is_a": [ "HP:0004343" ], "is_obsolete": "", "replace_id": "" }, "HP:0410367": { "name": [ "increased hepatitis a virus antibody level", "increase hepatitis a virus antibody level" ], "alt_id": [], "def": "An abnormally increased level of immunoglobulin against hepatitis A virus in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0010702" ], "is_obsolete": "", "replace_id": "" }, "HP:0410368": { "name": [ "increased globoside gb3 level", "increase globoside gb3 level" ], "alt_id": [], "def": "An abnormal increase in the concentration of glycolipid globoside Gb3.", "synonym": [ [ "increased globoside gb3 concentration", "increase globoside gb3 concentration" ] ], "xref": [], "is_a": [ "HP:0004343" ], "is_obsolete": "", "replace_id": "" }, "HP:0410369": { "name": [ "increased hepatitis b virus antibody level", "increase hepatitis b virus antibody level" ], "alt_id": [], "def": "An abnormally increased level of immunoglobulin against hepatitis B virus in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0010702" ], "is_obsolete": "", "replace_id": "" }, "HP:0410370": { "name": [ "absence of ganglioside gm3", "absence of ganglioside gm3" ], "alt_id": [], "def": "The absence of ganglioside GM3.", "synonym": [], "xref": [], "is_a": [ "HP:0004343" ], "is_obsolete": "", "replace_id": "" }, "HP:0410371": { "name": [ "increased hepatitis c virus antibody level", "increase hepatitis c virus antibody level" ], "alt_id": [], "def": "An abnormally increased level of immunoglobulin against hepatitis C virus in the blood.", "synonym": [], "xref": [], "is_a": [ "HP:0010702" ], "is_obsolete": "", "replace_id": "" }, "HP:0410372": { "name": [ "increased tn - antigen level", "increase tn - antigen level" ], "alt_id": [], "def": "An abnormal increase in the concentration of Tn antigen on glycoproteins.", "synonym": [ [ "increased o - galnac on glycoprotein concentration", "increase o - galnac on glycoprotein concentration" ] ], "xref": [], "is_a": [ "HP:0012358" ], "is_obsolete": "", "replace_id": "" }, "HP:0410373": { "name": [ "abnormal proportion of naive cd4 t cells", "abnormal proportion of naive cd4 t cell" ], "alt_id": [], "def": "Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells.", "synonym": [ [ "abnormal proportion of cd4+cd45ra+ cells", "abnormal proportion of cd4+cd45ra+ cell" ], [ "abnormal proportion of naive thymus - derived cd4 - positive , alpha - beta t cells", "abnormal proportion of naive thymus - derive cd4 - positive , alpha - beta t cell" ] ], "xref": [], "is_a": [ "HP:0031392", "HP:0031396" ], "is_obsolete": "", "replace_id": "" }, "HP:0410374": { "name": [ "abnormal proportion of naive cd8 t cells", "abnormal proportion of naive cd8 t cell" ], "alt_id": [], "def": "Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells.", "synonym": [], "xref": [], "is_a": [ "HP:0031396" ], "is_obsolete": "", "replace_id": "" }, "HP:0410375": { "name": [ "increased proportion of naive cd4 t cells", "increase proportion of naive cd4 t cell" ], "alt_id": [], "def": "", "synonym": [ [ "elevated proportion of naive cd4 t cells", "elevate proportion of naive cd4 t cell" ], [ "increased proportion of cd4+cd45ra+ cells", "increase proportion of cd4+cd45ra+ cell" ], [ "increased proportion of naive thymus - derived cd4 - positive , alpha - beta t cells", "increase proportion of naive thymus - derive cd4 - positive , alpha - beta t cell" ] ], "xref": [], "is_a": [ "HP:0031398", "HP:0032219", "HP:0410373" ], "is_obsolete": "", "replace_id": "" }, "HP:0410376": { "name": [ "increased proportion of naive cd8 t cells", "increase proportion of naive cd8 t cell" ], "alt_id": [], "def": "An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells.", "synonym": [ [ "elevated proportion of naive cd8 t cells", "elevate proportion of naive cd8 t cell" ], [ "elevated proportion of naive thymus - derived cd8 - positive , alpha - beta t cells", "elevate proportion of naive thymus - derive cd8 - positive , alpha - beta t cell" ] ], "xref": [], "is_a": [ "HP:0031398" ], "is_obsolete": "", "replace_id": "" }, "HP:0410377": { "name": [ "decreased proportion of naive cd8 t cells", "decreased proportion of naive cd8 t cell" ], "alt_id": [], "def": "An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.", "synonym": [ [ "reduced proportion of naive cd8 t cells", "reduce proportion of naive cd8 t cell" ], [ "reduced proportion of naive thymus - derived cd8 - positive , alpha - beta t cells", "reduce proportion of naive thymus - derive cd8 - positive , alpha - beta t cell" ] ], "xref": [], "is_a": [ "HP:0031397" ], "is_obsolete": "", "replace_id": "" }, "HP:0410378": { "name": [ "decreased proportion of naive cd4 t cells", "decreased proportion of naive cd4 t cell" ], "alt_id": [], "def": "An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.", "synonym": [ [ "decreased proportion of cd4+cd45ra+ cells", "decreased proportion of cd4+cd45ra+ cell" ], [ "decreased proportion of naive thymus - derived cd4 - positive , alpha - beta t cells", "decreased proportion of naive thymus - derive cd4 - positive , alpha - beta t cell" ], [ "reduced proportion of naive cd4 t cells", "reduce proportion of naive cd4 t cell" ] ], "xref": [], "is_a": [ "HP:0410373" ], "is_obsolete": "", "replace_id": "" }, "HP:0410379": { "name": [ "abnormal proportion of cd4 - positive , alpha - beta memory t cells", "abnormal proportion of cd4 - positive , alpha - beta memory t cell" ], "alt_id": [], "def": "An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.", "synonym": [], "xref": [], "is_a": [ "HP:0031392", "HP:0032182" ], "is_obsolete": "", "replace_id": "" }, "HP:0410380": { "name": [ "abnormal proportion of cd8 - positive , alpha - beta memory t cells", "abnormal proportion of cd8 - positive , alpha - beta memory t cell" ], "alt_id": [], "def": "An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.", "synonym": [], "xref": [], "is_a": [ "HP:0031393", "HP:0032182" ], "is_obsolete": "", "replace_id": "" }, "HP:0410381": { "name": [ "abnormal proportion of central memory cd4 - positive , alpha - beta t cells", "abnormal proportion of central memory cd4 - positive , alpha - beta t cell" ], "alt_id": [], "def": "An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.", "synonym": [], "xref": [], "is_a": [ "HP:0410379" ], "is_obsolete": "", "replace_id": "" }, "HP:0410382": { "name": [ "obsolete abnormal proportion of effector memory cd4 - positive , alpha - beta t cells", "obsolete abnormal proportion of effector memory cd4 - positive , alpha - beta t cell" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0025623" }, "HP:0410383": { "name": [ "abnormal proportion of effector memory cd8 - positive , alpha - beta t cells", "abnormal proportion of effector memory cd8 - positive , alpha - beta t cell" ], "alt_id": [], "def": "An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.", "synonym": [], "xref": [], "is_a": [ "HP:0410380" ], "is_obsolete": "", "replace_id": "" }, "HP:0410384": { "name": [ "abnormal proportion of central memory cd8 - positive , alpha - beta t cells", "abnormal proportion of central memory cd8 - positive , alpha - beta t cell" ], "alt_id": [], "def": "An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.", "synonym": [], "xref": [], "is_a": [ "HP:0410380" ], "is_obsolete": "", "replace_id": "" }, "HP:0410385": { "name": [ "decreased proportion of cd8 - positive , alpha - beta memory t cells", "decreased proportion of cd8 - positive , alpha - beta memory t cell" ], "alt_id": [], "def": "Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.", "synonym": [], "xref": [], "is_a": [ "HP:0032183" ], "is_obsolete": "", "replace_id": "" }, "HP:0410386": { "name": [ "decreased proportion of cd4 - positive , alpha - beta memory t cells", "decreased proportion of cd4 - positive , alpha - beta memory t cell" ], "alt_id": [], "def": "Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.", "synonym": [], "xref": [], "is_a": [ "HP:0032183" ], "is_obsolete": "", "replace_id": "" }, "HP:0410387": { "name": [ "obsolete decreased proportion of effector memory cd4 - positive , alpha - beta t cells", "obsolete decrease proportion of effector memory cd4 - positive , alpha - beta t cell" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0025624" }, "HP:0410388": { "name": [ "decreased proportion of central memory cd4 - positive , alpha - beta t cells", "decreased proportion of central memory cd4 - positive , alpha - beta t cell" ], "alt_id": [ "HP:0025622" ], "def": "A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.", "synonym": [ [ "decreased proportion of cd4+ central memory cells", "decreased proportion of cd4+ central memory cell" ], [ "decreased proportion of cd4 - positive central memory cells", "decreased proportion of cd4 - positive central memory cell" ], [ "decreased proportion of central memory cd4+ , alpha - beta t cell", "decreased proportion of central memory cd4+ , alpha - beta t cell" ], [ "reduced proportion of cd4+ central memory cells", "reduce proportion of cd4+ central memory cell" ] ], "xref": [], "is_a": [ "HP:0410386" ], "is_obsolete": "", "replace_id": "" }, "HP:0410389": { "name": [ "decreased proportion of central memory cd8 - positive , alpha - beta t cells", "decreased proportion of central memory cd8 - positive , alpha - beta t cell" ], "alt_id": [], "def": "A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.", "synonym": [], "xref": [], "is_a": [ "HP:0410384", "HP:0410385" ], "is_obsolete": "", "replace_id": "" }, "HP:0410390": { "name": [ "decreased proportion of effector memory cd8 - positive , alpha - beta t cells", "decreased proportion of effector memory cd8 - positive , alpha - beta t cell" ], "alt_id": [], "def": "A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.", "synonym": [], "xref": [], "is_a": [ "HP:0410383", "HP:0410385" ], "is_obsolete": "", "replace_id": "" }, "HP:0410391": { "name": [ "increased proportion of cd4 - positive , alpha - beta memory t cells", "increase proportion of cd4 - positive , alpha - beta memory t cell" ], "alt_id": [], "def": "An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.", "synonym": [], "xref": [], "is_a": [ "HP:0032184", "HP:0032219", "HP:0410379" ], "is_obsolete": "", "replace_id": "" }, "HP:0410392": { "name": [ "increased proportion of cd8 - positive , alpha - beta memory t cells", "increase proportion of cd8 - positive , alpha - beta memory t cell" ], "alt_id": [], "def": "An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.", "synonym": [], "xref": [], "is_a": [ "HP:0032184", "HP:0410380" ], "is_obsolete": "", "replace_id": "" }, "HP:0410393": { "name": [ "increased proportion of central memory cd4 - positive , alpha - beta t cells", "increase proportion of central memory cd4 - positive , alpha - beta t cell" ], "alt_id": [ "HP:0025621" ], "def": "An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.", "synonym": [ [ "elevated proportion central memory cd4 - positive , alpha - beta t cells", "elevate proportion central memory cd4 - positive , alpha - beta t cell" ], [ "elevated proportion of cd4+ central memory cells", "elevate proportion of cd4+ central memory cell" ], [ "increased proportion of cd4+ central memory cells", "increase proportion of cd4+ central memory cell" ], [ "increased proportion of central memory cd4+ , alpha - beta t cell", "increase proportion of central memory cd4+ , alpha - beta t cell" ] ], "xref": [], "is_a": [ "HP:0410391" ], "is_obsolete": "", "replace_id": "" }, "HP:0410394": { "name": [ "increased proportion of effector memory cd4 - positive , alpha - beta t cells", "increase proportion of effector memory cd4 - positive , alpha - beta t cell" ], "alt_id": [], "def": "An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.", "synonym": [], "xref": [], "is_a": [ "HP:0410391" ], "is_obsolete": "", "replace_id": "" }, "HP:0410395": { "name": [ "increased proportion of effector memory cd8 - positive , alpha - beta t cells", "increase proportion of effector memory cd8 - positive , alpha - beta t cell" ], "alt_id": [], "def": "An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.", "synonym": [], "xref": [], "is_a": [ "HP:0410392" ], "is_obsolete": "", "replace_id": "" }, "HP:0410396": { "name": [ "increased proportion of central memory cd8 - positive , alpha - beta t cells", "increase proportion of central memory cd8 - positive , alpha - beta t cell" ], "alt_id": [], "def": "An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.", "synonym": [], "xref": [], "is_a": [ "HP:0410384", "HP:0410392" ], "is_obsolete": "", "replace_id": "" }, "HP:0410397": { "name": [ "bronchiolectasis", "bronchiolectasis" ], "alt_id": [], "def": "Saccular dilatation of the terminal bronchioles.", "synonym": [ [ "bronchiolectasia", "bronchiolectasia" ] ], "xref": [], "is_a": [ "HP:0025426" ], "is_obsolete": "", "replace_id": "" }, "HP:0410399": { "name": [ "positive blood lead test", "positive blood lead test" ], "alt_id": [], "def": "Detection of lead in the blood.", "synonym": [ [ "increased blood lead level", "increase blood lead level" ] ], "xref": [], "is_a": [ "HP:0410172" ], "is_obsolete": "", "replace_id": "" }, "HP:0410400": { "name": [ "absent sebaceous glands", "absent sebaceous gland" ], "alt_id": [], "def": "Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.", "synonym": [ [ "absence of sebaceous glands", "absence of sebaceous gland" ] ], "xref": [], "is_a": [ "HP:0032226" ], "is_obsolete": "", "replace_id": "" }, "HP:0410401": { "name": [ "worse in evening", "bad in evening" ], "alt_id": [], "def": "Applies to a sign or symptom that is exacerbated in the evening as compared to the day.", "synonym": [], "xref": [], "is_a": [ "HP:0012823" ], "is_obsolete": "", "replace_id": "" }, "HP:0430000": { "name": [ "abnormality of the frontal bone", "abnormality of the frontal bone" ], "alt_id": [], "def": "An abnormality of the frontal bone.", "synonym": [ [ "abnormal morphology of frontal bone", "abnormal morphology of frontal bone" ], [ "abnormality of the bone of the forehead", "abnormality of the bone of the forehead" ], [ "anomaly of the frontal bone", "anomaly of the frontal bone" ], [ "deformity of the frontal bone", "deformity of the frontal bone" ], [ "malformation of the frontal bone", "malformation of the frontal bone" ] ], "xref": [ "UMLS:C4021873" ], "is_a": [ "HP:0011821" ], "is_obsolete": "", "replace_id": "" }, "HP:0430002": { "name": [ "abnormality of the lacrimal bone", "abnormality of the lacrimal bone" ], "alt_id": [], "def": "An abnormality of the lacrimal bone.", "synonym": [ [ "anomaly of the lacrimal bone", "anomaly of the lacrimal bone" ], [ "deformity of the lacrimal bone", "deformity of the lacrimal bone" ], [ "malformation of the lacrimal bone", "malformation of the lacrimal bone" ] ], "xref": [ "UMLS:C4021872" ], "is_a": [ "HP:0011821" ], "is_obsolete": "", "replace_id": "" }, "HP:0430003": { "name": [ "abnormality of the palatine bone", "abnormality of the palatine bone" ], "alt_id": [], "def": "An abnormality of the palatine bone.", "synonym": [ [ "anomaly of the palatine bone", "anomaly of the palatine bone" ], [ "deformity of the palatine bone", "deformity of the palatine bone" ], [ "malformation of the palatine bone", "malformation of the palatine bone" ] ], "xref": [ "UMLS:C4021871" ], "is_a": [ "HP:0011821" ], "is_obsolete": "", "replace_id": "" }, "HP:0430004": { "name": [ "frontomalar faciosynostosis", "frontomalar faciosynostosis" ], "alt_id": [], "def": "", "synonym": [], "xref": [ "UMLS:C4021870" ], "is_a": [ "HP:0011821" ], "is_obsolete": "", "replace_id": "" }, "HP:0430005": { "name": [ "abnormality of ethmoid bone", "abnormality of ethmoid bone" ], "alt_id": [], "def": "An abnormality of the ethmoid bone", "synonym": [ [ "anomaly of the ethmoid bone", "anomaly of the ethmoid bone" ], [ "deformity of the ethmoid bone", "deformity of the ethmoid bone" ], [ "malformation of the ethmoid bone", "malformation of the ethmoid bone" ] ], "xref": [ "UMLS:C4021869" ], "is_a": [ "HP:0011821" ], "is_obsolete": "", "replace_id": "" }, "HP:0430006": { "name": [ "ectopic cilia of eyelid", "ectopic cilium of eyelid" ], "alt_id": [], "def": "An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid.", "synonym": [], "xref": [ "SNOMEDCT_US:95504004", "UMLS:C0521574" ], "is_a": [ "HP:0000499" ], "is_obsolete": "", "replace_id": "" }, "HP:0430007": { "name": [ "symblepharon", "symblepharon" ], "alt_id": [], "def": "A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball.", "synonym": [ [ "eyelid adhesion to globe of eye", "eyelid adhesion to globe of eye" ], [ "eyelid stuck to eyeball", "eyelid stuck to eyeball" ] ], "xref": [ "SNOMEDCT_US:90216006", "UMLS:C0152454" ], "is_a": [ "HP:0000492" ], "is_obsolete": "", "replace_id": "" }, "HP:0430008": { "name": [ "accessory eyelid", "accessory eyelid" ], "alt_id": [], "def": "The presence of more than the normal number of eyelids.", "synonym": [ [ "double eyelid", "double eyelid" ], [ "extra eyelid", "extra eyelid" ] ], "xref": [ "SNOMEDCT_US:24606006", "UMLS:C0266576", "UMLS:C4280275" ], "is_a": [ "HP:0000492" ], "is_obsolete": "", "replace_id": "" }, "HP:0430009": { "name": [ "hypoplasia of eyelid", "hypoplasia of eyelid" ], "alt_id": [], "def": "Developmental hypoplasia of the eyelid.", "synonym": [ [ "decreased size of eyelid", "decreased size of eyelid" ], [ "short eyelid", "short eyelid" ], [ "small eyelid", "small eyelid" ], [ "underdevelopment of eyelid", "underdevelopment of eyelid" ] ], "xref": [ "SNOMEDCT_US:204203001", "UMLS:C0344499", "UMLS:C4280274" ], "is_a": [ "HP:0011226" ], "is_obsolete": "", "replace_id": "" }, "HP:0430010": { "name": [ "microblepharia", "microblepharia" ], "alt_id": [], "def": "Abnormal shortness of the vertical dimensions of the eyelids.", "synonym": [ [ "abnormally small eyelid", "abnormally small eyelid" ] ], "xref": [ "SNOMEDCT_US:94684003", "UMLS:C0685873" ], "is_a": [ "HP:0000492" ], "is_obsolete": "", "replace_id": "" }, "HP:0430011": { "name": [ "defect of palpebral conjunctiva", "defect of palpebral conjunctiva" ], "alt_id": [], "def": "An abnormality of the palpebral conjunctiva.", "synonym": [], "xref": [ "UMLS:C4021868" ], "is_a": [ "HP:0000502" ], "is_obsolete": "", "replace_id": "" }, "HP:0430012": { "name": [ "incomplete ossification of palatine bone", "incomplete ossification of palatine bone" ], "alt_id": [], "def": "Failure to complete ossification (maturation and calcification) of the palatine bone.", "synonym": [ [ "incomplete calcification of palatine bone", "incomplete calcification of palatine bone" ], [ "incomplete formation of palatine bone", "incomplete formation of palatine bone" ], [ "incomplete mineralization of palatine bone", "incomplete mineralization of palatine bone" ] ], "xref": [ "SNOMEDCT_US:93595006", "UMLS:C0685213" ], "is_a": [ "HP:0430003" ], "is_obsolete": "", "replace_id": "" }, "HP:0430013": { "name": [ "absent palatine bone ossification", "absent palatine bone ossification" ], "alt_id": [], "def": "Lack of formation of the palatine bone.", "synonym": [ [ "absence of palatine bone calcification", "absence of palatine bone calcification" ], [ "absence of palatine bone formation", "absence of palatine bone formation" ], [ "absence of palatine bone mineralization", "absence of palatine bone mineralization" ] ], "xref": [ "UMLS:C4021867" ], "is_a": [ "HP:0430003" ], "is_obsolete": "", "replace_id": "" }, "HP:0430014": { "name": [ "abnormality of musculature of soft palate", "abnormality of musculature of soft palate" ], "alt_id": [], "def": "An abnormality of one or more of the five muscles of the soft palate.", "synonym": [ [ "abnormality of soft palate muscles", "abnormality of soft palate muscle" ] ], "xref": [ "UMLS:C4073196" ], "is_a": [ "HP:0011805", "HP:0100736" ], "is_obsolete": "", "replace_id": "" }, "HP:0430015": { "name": [ "abnormal morphology of musculature of pharynx", "abnormal morphology of musculature of pharynx" ], "alt_id": [], "def": "An abnormality of any of the muscles of the pharynx.", "synonym": [ [ "abnormality of muscles of the pharynx", "abnormality of muscle of the pharynx" ], [ "abnormality of musculature of pharynx", "abnormality of musculature of pharynx" ], [ "abnormality of pharyngeal musculature", "abnormality of pharyngeal musculature" ], [ "abnormality of pharynx musculature", "abnormality of pharynx musculature" ] ], "xref": [ "UMLS:C4073197" ], "is_a": [ "HP:0011805", "HP:0033151" ], "is_obsolete": "", "replace_id": "" }, "HP:0430016": { "name": [ "abnormality of tensor veli palatini muscle", "abnormality of tensor veli palatini muscle" ], "alt_id": [], "def": "An abnormality of the tensor veli palatini muscle", "synonym": [], "xref": [ "UMLS:C4073198" ], "is_a": [ "HP:0430014" ], "is_obsolete": "", "replace_id": "" }, "HP:0430017": { "name": [ "abnormality of uvular muscle", "abnormality of uvular muscle" ], "alt_id": [], "def": "An abnormality of the uvular muscle", "synonym": [ [ "abnormality of musculus uvulae", "abnormality of musculus uvula" ] ], "xref": [ "UMLS:C4073199" ], "is_a": [ "HP:0000172", "HP:0430014" ], "is_obsolete": "", "replace_id": "" }, "HP:0430018": { "name": [ "abnormality of nasal musculature", "abnormality of nasal musculature" ], "alt_id": [], "def": "An abnormality of the muscles of the structure of the nose.", "synonym": [ [ "abnormality of muscle of nose", "abnormality of muscle of nose" ], [ "abnormality of musculature of the nose", "abnormality of musculature of the nose" ], [ "abnormality of nasal musculature", "abnormality of nasal musculature" ] ], "xref": [ "UMLS:C4073200" ], "is_a": [ "HP:0000301" ], "is_obsolete": "", "replace_id": "" }, "HP:0430019": { "name": [ "abnormality of muscle of facial expression", "abnormality of muscle of facial expression" ], "alt_id": [], "def": "An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression.", "synonym": [ [ "abnormality of muscle of facial expression", "abnormality of muscle of facial expression" ], [ "abnormality of musculature of facial expression", "abnormality of musculature of facial expression" ] ], "xref": [ "UMLS:C4073201" ], "is_a": [ "HP:0000301" ], "is_obsolete": "", "replace_id": "" }, "HP:0430020": { "name": [ "abnormality of levator labii superioris alaeque nasi muscle", "abnormality of levator labii superioris alaeque nasi muscle" ], "alt_id": [], "def": "An abnormality of the levator labii superioris alaeque nasi muscle.", "synonym": [], "xref": [ "UMLS:C4073202" ], "is_a": [ "HP:0430019" ], "is_obsolete": "", "replace_id": "" }, "HP:0430021": { "name": [ "abnormal common carotid artery morphology", "abnormal common carotid artery morphology" ], "alt_id": [], "def": "An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery.", "synonym": [ [ "abnormality of the common carotid artery", "abnormality of the common carotid artery" ] ], "xref": [ "UMLS:C4073203" ], "is_a": [ "HP:0005344" ], "is_obsolete": "", "replace_id": "" }, "HP:0430022": { "name": [ "abnormality of the sphenoid sinus", "abnormality of the sphenoid sinus" ], "alt_id": [], "def": "An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone.", "synonym": [ [ "abnormality of the sphenoidal sinus", "abnormality of the sphenoidal sinus" ] ], "xref": [ "UMLS:C4073204" ], "is_a": [ "HP:0000245" ], "is_obsolete": "", "replace_id": "" }, "HP:0430023": { "name": [ "abnormality of the maxillary sinus", "abnormality of the maxillary sinus" ], "alt_id": [], "def": "An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity.", "synonym": [ [ "abnormality of the antrum of highmore", "abnormality of the antrum of highmore" ], [ "abnormality of the maxillary antrum", "abnormality of the maxillary antrum" ], [ "abnormality of the upper jaw sinus", "abnormality of the upper jaw sinus" ] ], "xref": [ "UMLS:C4073205" ], "is_a": [ "HP:0000245" ], "is_obsolete": "", "replace_id": "" }, "HP:0430024": { "name": [ "abnormality of external jugular vein", "abnormality of external jugular vein" ], "alt_id": [], "def": "An abnormality of an external jugular vein of the neck.", "synonym": [], "xref": [ "UMLS:C4073206" ], "is_a": [ "HP:3000042" ], "is_obsolete": "", "replace_id": "" }, "HP:0430025": { "name": [ "bilateral facial palsy", "bilateral facial palsy" ], "alt_id": [], "def": "Two-sided or bilateral weakness of the muscles of facial expression and eye closure.", "synonym": [ [ "bilateral facial muscle paralysis", "bilateral facial muscle paralysis" ], [ "bilateral facial muscle weakness", "bilateral facial muscle weakness" ], [ "bilateral facial paralysis", "bilateral facial paralysis" ], [ "paralysis of both sides of the face", "paralysis of both side of the face" ], [ "weakness of both sides of the face", "weakness of both side of the face" ] ], "xref": [ "UMLS:C4073207" ], "is_a": [ "HP:0010628" ], "is_obsolete": "", "replace_id": "" }, "HP:0430026": { "name": [ "abnormality of the shape of the midface", "abnormality of the shape of the midface" ], "alt_id": [], "def": "An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims.", "synonym": [ [ "abnormal morphology of the midface", "abnormal morphology of the midface" ], [ "abnormality of the shape of the midface", "abnormality of the shape of the midface" ], [ "dysmorphic midface", "dysmorphic midface" ] ], "xref": [ "UMLS:C4073208" ], "is_a": [ "HP:0000309", "HP:0001999" ], "is_obsolete": "", "replace_id": "" }, "HP:0430028": { "name": [ "hyperplasia of the maxilla", "hyperplasia of the maxilla" ], "alt_id": [], "def": "Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.", "synonym": [ [ "big maxilla", "big maxilla" ], [ "big upper jaw", "big upper jaw" ], [ "hyperplasia of upper jaw", "hyperplasia of upper jaw" ], [ "hypertrophy of maxilla", "hypertrophy of maxilla" ], [ "hypertrophy of upper jaw", "hypertrophy of upper jaw" ], [ "increased projection of maxilla", "increase projection of maxilla" ], [ "increased projection of upper jaw", "increase projection of upper jaw" ], [ "increased size of maxilla", "increase size of maxilla" ], [ "increased size of upper jaw", "increase size of upper jaw" ], [ "large maxilla", "large maxilla" ], [ "large upper jaw", "large upper jaw" ], [ "maxillary excess", "maxillary excess" ], [ "maxillary hyperplasia", "maxillary hyperplasia" ], [ "maxillary macrognathia", "maxillary macrognathia" ], [ "maxillary prognathia", "maxillary prognathia" ], [ "maxillary prominence", "maxillary prominence" ], [ "prognathia of the upper jaw", "prognathia of the upper jaw" ], [ "prominent maxilla", "prominent maxilla" ], [ "prominent upper jaw", "prominent upper jaw" ], [ "upper jaw bone excess", "upper jaw bone excess" ], [ "upper jaw excess", "upper jaw excess" ] ], "xref": [ "SNOMEDCT_US:28070007", "UMLS:C0266081", "UMLS:C2227090", "UMLS:C4073209", "UMLS:C4280272", "UMLS:C4280273" ], "is_a": [ "HP:0000326" ], "is_obsolete": "", "replace_id": "" }, "HP:0430029": { "name": [ "hyperplasia of the premaxilla", "hyperplasia of the premaxilla" ], "alt_id": [], "def": "An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures.", "synonym": [ [ "hyperplasia of the intermaxillary bone", "hyperplasia of the intermaxillary bone" ], [ "hyperplasia of the primary palate bone", "hyperplasia of the primary palate bone" ], [ "increased size of premaxilla", "increase size of premaxilla" ], [ "increased size of the primary palate bone", "increase size of the primary palate bone" ], [ "large premaxilla", "large premaxilla" ], [ "large primary palate bone", "large primary palate bone" ], [ "premaxillary excess", "premaxillary excess" ], [ "primary palate bone excess", "primary palate bone excess" ] ], "xref": [ "UMLS:C4073210" ], "is_a": [ "HP:0010758" ], "is_obsolete": "", "replace_id": "" }, "HP:0500001": { "name": [ "body odor", "body odor" ], "alt_id": [], "def": "A perceived unpleasant smell given off by the body.", "synonym": [ [ "body odor", "body odor" ], [ "body odour", "body odour" ], [ "bromhidrosis", "bromhidrosis" ], [ "bromidrosis", "bromidrosis" ], [ "osmidrosis", "osmidrosis" ] ], "xref": [], "is_a": [ "HP:0025142" ], "is_obsolete": "", "replace_id": "" }, "HP:0500005": { "name": [ "anal pain", "anal pain" ], "alt_id": [], "def": "Pain in and around the anus or rectum (perianal region).", "synonym": [ [ "anal pain", "anal pain" ], [ "rectal pain", "rectal pain" ] ], "xref": [], "is_a": [ "HP:0012531" ], "is_obsolete": "", "replace_id": "" }, "HP:0500006": { "name": [ "urethritis", "urethritis" ], "alt_id": [], "def": "Inflammation of the urethra.", "synonym": [], "xref": [], "is_a": [ "HP:0000795" ], "is_obsolete": "", "replace_id": "" }, "HP:0500007": { "name": [ "iris flocculi", "iris flocculi" ], "alt_id": [], "def": "Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris.", "synonym": [], "xref": [], "is_a": [ "HP:0000525" ], "is_obsolete": "", "replace_id": "" }, "HP:0500008": { "name": [ "cornea verticillata", "cornea verticillata" ], "alt_id": [], "def": "Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea.", "synonym": [ [ "vortex keratopathy", "vortex keratopathy" ] ], "xref": [], "is_a": [ "HP:0000481" ], "is_obsolete": "", "replace_id": "" }, "HP:0500009": { "name": [ "dysplastic gangliocytoma of the cerebellum", "dysplastic gangliocytoma of the cerebellum" ], "alt_id": [], "def": "It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum.", "synonym": [ [ "lhermitte - duclos disease", "lhermitte - duclos disease" ] ], "xref": [], "is_a": [ "HP:0001317" ], "is_obsolete": "", "replace_id": "" }, "HP:0500010": { "name": [ "obsolete increased cholesterol esters", "obsolete increase cholesterol ester" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0031211" }, "HP:0500011": { "name": [ "moon facies", "moon facies" ], "alt_id": [], "def": "A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.", "synonym": [ [ "moon face", "moon face" ], [ "puffy face", "puffy face" ], [ "puffy facies", "puffy facies" ] ], "xref": [], "is_a": [ "HP:0001999" ], "is_obsolete": "", "replace_id": "" }, "HP:0500012": { "name": [ "abnormality of gonadotropin - releasing hormone level", "abnormality of gonadotropin - release hormone level" ], "alt_id": [], "def": "A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone level secreted from the pituitary gland.", "synonym": [ [ "abnormality of gnrh level", "abnormality of gnrh level" ] ], "xref": [], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0500013": { "name": [ "lack of gonadotropin - releasing hormone pulsatility", "lack of gonadotropin - release hormone pulsatility" ], "alt_id": [], "def": "Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.", "synonym": [ [ "absence of gnrh pulsatility", "absence of gnrh pulsatility" ] ], "xref": [], "is_a": [ "HP:0500012" ], "is_obsolete": "", "replace_id": "" }, "HP:0500014": { "name": [ "obsolete abnormal test result", "obsolete abnormal test result" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:0500015": { "name": [ "abnormal cardiac test", "abnormal cardiac test" ], "alt_id": [], "def": "Abnormal test result of cardiovascular physiology.", "synonym": [], "xref": [], "is_a": [ "HP:0001626" ], "is_obsolete": "", "replace_id": "" }, "HP:0500016": { "name": [ "abnormal cardiac mri", "abnormal cardiac mri" ], "alt_id": [], "def": "Abnormal results of a MRI for the heart.", "synonym": [ [ "abnormal cardiac magnetic resonance imaging", "abnormal cardiac magnetic resonance imaging" ], [ "abnormal heart mri", "abnormal heart mri" ] ], "xref": [], "is_a": [ "HP:0500015" ], "is_obsolete": "", "replace_id": "" }, "HP:0500017": { "name": [ "abnormal cardiac catheterization", "abnormal cardiac catheterization" ], "alt_id": [], "def": "Abnormal results from the diagnostic tests resulting from cardiac catheterization.", "synonym": [ [ "abnormal cardiac cath", "abnormal cardiac cath" ] ], "xref": [], "is_a": [ "HP:0500015" ], "is_obsolete": "", "replace_id": "" }, "HP:0500018": { "name": [ "abnormal cardiac exercise stress test", "abnormal cardiac exercise stress test" ], "alt_id": [], "def": "Abnormal results of exercise on heart function.", "synonym": [ [ "abnormal cardiac exercise test", "abnormal cardiac exercise test" ], [ "abnormal exercise test", "abnormal exercise test" ], [ "abnormal treadmill test", "abnormal treadmill test" ] ], "xref": [], "is_a": [ "HP:0500015" ], "is_obsolete": "", "replace_id": "" }, "HP:0500019": { "name": [ "abnormal resting energy expenditure from metabolic cart test", "abnormal rest energy expenditure from metabolic cart test" ], "alt_id": [], "def": "Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2).", "synonym": [ [ "abnormal metabolic cart test", "abnormal metabolic cart test" ] ], "xref": [], "is_a": [ "HP:0500015" ], "is_obsolete": "", "replace_id": "" }, "HP:0500020": { "name": [ "abnormal cardiac biomarker test", "abnormal cardiac biomarker test" ], "alt_id": [], "def": "Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.", "synonym": [], "xref": [], "is_a": [ "HP:0500015" ], "is_obsolete": "", "replace_id": "" }, "HP:0500021": { "name": [ "reduced brain gamma - aminobutyric acid level by mrs", "reduce brain gamma - aminobutyric acid level by mr" ], "alt_id": [], "def": "An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS).", "synonym": [], "xref": [], "is_a": [ "HP:0012705" ], "is_obsolete": "", "replace_id": "" }, "HP:0500022": { "name": [ "abnormal circulating dehydroepiandrosterone concentration", "abnormal circulate dehydroepiandrosterone concentration" ], "alt_id": [], "def": "A deviation from the normal concentration of dehydroepiandrosterone in the circulation.", "synonym": [ [ "abnormal serum androstenolone level", "abnormal serum androstenolone level" ], [ "abnormal serum dehydroepiandrosterone level", "abnormal serum dehydroepiandrosterone level" ], [ "abnormal serum dhea", "abnormal serum dhea" ] ], "xref": [], "is_a": [ "HP:0030347" ], "is_obsolete": "", "replace_id": "" }, "HP:0500023": { "name": [ "shoulder muscle aplasia", "shoulder muscle aplasia" ], "alt_id": [], "def": "Absence of shoulder muscles.", "synonym": [ [ "absent shoulder muscle", "absent shoulder muscle" ] ], "xref": [], "is_a": [ "HP:0001464" ], "is_obsolete": "", "replace_id": "" }, "HP:0500024": { "name": [ "aplasia of the musculature of the pelvis", "aplasia of the musculature of the pelvis" ], "alt_id": [], "def": "Absence of the musculature of the pelvis.", "synonym": [], "xref": [], "is_a": [ "HP:0001471" ], "is_obsolete": "", "replace_id": "" }, "HP:0500026": { "name": [ "hypoplasia of the musculature of the pelvis", "hypoplasia of the musculature of the pelvis" ], "alt_id": [], "def": "Underdevelopment of the musculature of the pelvis.", "synonym": [], "xref": [], "is_a": [ "HP:0001471" ], "is_obsolete": "", "replace_id": "" }, "HP:0500027": { "name": [ "aplastic colon", "aplastic colon" ], "alt_id": [], "def": "Congenital absence of the colon", "synonym": [ [ "absence of the colon", "absence of the colon" ], [ "aplasia of the colon", "aplasia of the colon" ] ], "xref": [], "is_a": [ "HP:0100811" ], "is_obsolete": "", "replace_id": "" }, "HP:0500028": { "name": [ "cotton wool plaques", "cotton wool plaque" ], "alt_id": [], "def": "Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes.", "synonym": [ [ "cwps", "cwps" ] ], "xref": [], "is_a": [ "HP:0100256" ], "is_obsolete": "", "replace_id": "" }, "HP:0500030": { "name": [ "abnormal hepatic glycogen storage", "abnormal hepatic glycogen storage" ], "alt_id": [], "def": "Change in normal glycogen storage content.", "synonym": [], "xref": [], "is_a": [ "HP:0410042" ], "is_obsolete": "", "replace_id": "" }, "HP:0500031": { "name": [ "sclerosis of the carpal bones", "sclerosis of the carpal bone" ], "alt_id": [], "def": "An elevation in bone density in one or more carpal bones of the hand.", "synonym": [], "xref": [], "is_a": [ "HP:0004054" ], "is_obsolete": "", "replace_id": "" }, "HP:0500032": { "name": [ "abnormal neuron branching", "abnormal neuron branching" ], "alt_id": [], "def": "Abnormality of the structure and branching of the dendrites of a neuron.", "synonym": [ [ "aberrant neuronal branching", "aberrant neuronal branching" ], [ "abnormal neuronal branching", "abnormal neuronal branching" ] ], "xref": [], "is_a": [ "HP:0012757" ], "is_obsolete": "", "replace_id": "" }, "HP:0500033": { "name": [ "abnormal natural killer subset distribution", "abnormal natural killer subset distribution" ], "alt_id": [], "def": "Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells.", "synonym": [], "xref": [], "is_a": [ "HP:0040089" ], "is_obsolete": "", "replace_id": "" }, "HP:0500034": { "name": [ "nasolacrimal sac obstruction", "nasolacrimal sac obstruction" ], "alt_id": [], "def": "Blockage of the nasolacrimal sac.", "synonym": [], "xref": [], "is_a": [ "HP:3000066" ], "is_obsolete": "", "replace_id": "" }, "HP:0500035": { "name": [ "nasolacrimal sac granuloma", "nasolacrimal sac granuloma" ], "alt_id": [], "def": "A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac.", "synonym": [], "xref": [], "is_a": [ "HP:0500034" ], "is_obsolete": "", "replace_id": "" }, "HP:0500036": { "name": [ "nasolacrimal sac papilloma", "nasolacrimal sac papilloma" ], "alt_id": [], "def": "Benign tumor of the nasolacrimal sac.", "synonym": [], "xref": [], "is_a": [ "HP:0500035" ], "is_obsolete": "", "replace_id": "" }, "HP:0500037": { "name": [ "nasolacrimal sac epithelial papillary carcinoma", "nasolacrimal sac epithelial papillary carcinoma" ], "alt_id": [], "def": "The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac.", "synonym": [], "xref": [], "is_a": [ "HP:3000066" ], "is_obsolete": "", "replace_id": "" }, "HP:0500039": { "name": [ "conjunctival cicatrization", "conjunctival cicatrization" ], "alt_id": [], "def": "An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring.", "synonym": [ [ "cicatricial conjunctivitis", "cicatricial conjunctivitis" ], [ "cicatrizating conjunctivitis", "cicatrizating conjunctivitis" ], [ "conjunctival cicatricial conjunctivitis", "conjunctival cicatricial conjunctivitis" ] ], "xref": [], "is_a": [ "HP:0030947" ], "is_obsolete": "", "replace_id": "" }, "HP:0500040": { "name": [ "dermolipoma of the conjunctiva", "dermolipoma of the conjunctiva" ], "alt_id": [], "def": "A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix.", "synonym": [ [ "conjunctival lipodermoid", "conjunctival lipodermoid" ] ], "xref": [], "is_a": [ "HP:0500039" ], "is_obsolete": "", "replace_id": "" }, "HP:0500041": { "name": [ "myopic astigmatism", "myopic astigmatism" ], "alt_id": [], "def": "A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest.", "synonym": [], "xref": [], "is_a": [ "HP:0000483" ], "is_obsolete": "", "replace_id": "" }, "HP:0500042": { "name": [ "latent hypermetropia", "latent hypermetropia" ], "alt_id": [], "def": "A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye.", "synonym": [ [ "latent hyperopia", "latent hyperopia" ] ], "xref": [], "is_a": [ "HP:0008499" ], "is_obsolete": "", "replace_id": "" }, "HP:0500043": { "name": [ "eyelid retraction", "eyelid retraction" ], "alt_id": [], "def": "With the eyes in primary position, the sclera is visible above the superior corneal limbus.", "synonym": [], "xref": [], "is_a": [ "HP:0000492" ], "is_obsolete": "", "replace_id": "" }, "HP:0500044": { "name": [ "upper eyelid retraction", "upper eyelid retraction" ], "alt_id": [], "def": "An elevation of the eyelid above the normal level in the primary position.", "synonym": [], "xref": [], "is_a": [ "HP:0500043" ], "is_obsolete": "", "replace_id": "" }, "HP:0500045": { "name": [ "collier 's sign", "collier 's sign" ], "alt_id": [], "def": "A unilateral or bilateral eyelid retraction due to midbrain lesions.", "synonym": [], "xref": [], "is_a": [ "HP:0500044" ], "is_obsolete": "", "replace_id": "" }, "HP:0500046": { "name": [ "seborrhoeic blepharitis", "seborrhoeic blepharitis" ], "alt_id": [], "def": "Inflamation of the eyelid due to overactivity of the sebaceous gland.", "synonym": [], "xref": [], "is_a": [ "HP:0025610" ], "is_obsolete": "", "replace_id": "" }, "HP:0500047": { "name": [ "nasolacrimal sac lymphoma", "nasolacrimal sac lymphoma" ], "alt_id": [], "def": "A type of lymphoma that involves the nasolacrimal sac.", "synonym": [], "xref": [], "is_a": [ "HP:3000066" ], "is_obsolete": "", "replace_id": "" }, "HP:0500048": { "name": [ "delayed canalization of nasolacrimal duct", "delay canalization of nasolacrimal duct" ], "alt_id": [], "def": "A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period.", "synonym": [], "xref": [], "is_a": [ "HP:0000579" ], "is_obsolete": "", "replace_id": "" }, "HP:0500049": { "name": [ "retinopathy of prematurity", "retinopathy of prematurity" ], "alt_id": [], "def": "An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness.", "synonym": [], "xref": [], "is_a": [ "HP:0000488" ], "is_obsolete": "", "replace_id": "" }, "HP:0500050": { "name": [ "retinopathy of prematurity stage 1", "retinopathy of prematurity stage 1" ], "alt_id": [], "def": "The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina.", "synonym": [ [ "rop stage 1", "rop stage 1" ] ], "xref": [], "is_a": [ "HP:0500049" ], "is_obsolete": "", "replace_id": "" }, "HP:0500051": { "name": [ "retinopathy of prematurity stage 2", "retinopathy of prematurity stage 2" ], "alt_id": [], "def": "The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous.", "synonym": [ [ "rop stage 2", "rop stage 2" ] ], "xref": [], "is_a": [ "HP:0500049" ], "is_obsolete": "", "replace_id": "" }, "HP:0500052": { "name": [ "retinopathy of prematurity stage 3", "retinopathy of prematurity stage 3" ], "alt_id": [], "def": "The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina.", "synonym": [ [ "rop stage 3", "rop stage 3" ] ], "xref": [], "is_a": [ "HP:0500049" ], "is_obsolete": "", "replace_id": "" }, "HP:0500053": { "name": [ "retinopathy of prematurity stage 4", "retinopathy of prematurity stage 4" ], "alt_id": [], "def": "Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment.", "synonym": [ [ "rop stage 4", "rop stage 4" ] ], "xref": [], "is_a": [ "HP:0500049" ], "is_obsolete": "", "replace_id": "" }, "HP:0500054": { "name": [ "retinopathy of prematurity stage 4a", "retinopathy of prematurity stage 4a" ], "alt_id": [], "def": "A detachment that involves the peripheral retina that does not extend into the macula.", "synonym": [ [ "rop stage 4a", "rop stage 4a" ] ], "xref": [], "is_a": [ "HP:0500053" ], "is_obsolete": "", "replace_id": "" }, "HP:0500055": { "name": [ "retinopathy of prematurity stage 4b", "retinopathy of prematurity stage 4b" ], "alt_id": [], "def": "A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well.", "synonym": [ [ "rop 4b", "rop 4b" ] ], "xref": [], "is_a": [ "HP:0500053" ], "is_obsolete": "", "replace_id": "" }, "HP:0500056": { "name": [ "retinopathy of prematurity stage 5", "retinopathy of prematurity stage 5" ], "alt_id": [], "def": "Funnel detachment from the retina with generally traction in all four quadrants.", "synonym": [ [ "rop stage 5", "rop stage 5" ] ], "xref": [], "is_a": [ "HP:0500049" ], "is_obsolete": "", "replace_id": "" }, "HP:0500057": { "name": [ "retinopathy of prematurity stage 5a", "retinopathy of prematurity stage 5a" ], "alt_id": [], "def": "An open funnel detachment of the retina with generally traction in all four quadrants.", "synonym": [ [ "rop stage 5a", "rop stage 5a" ] ], "xref": [], "is_a": [ "HP:0500056" ], "is_obsolete": "", "replace_id": "" }, "HP:0500058": { "name": [ "retinopathy of prematurity stage 5b", "retinopathy of prematurity stage 5b" ], "alt_id": [], "def": "A closed funnel detachment of the retina with generally traction in all four quadrants.", "synonym": [ [ "rop stage 5b", "rop stage 5b" ] ], "xref": [], "is_a": [ "HP:0500056" ], "is_obsolete": "", "replace_id": "" }, "HP:0500059": { "name": [ "retinopathy of prematurity zone i", "retinopathy of prematurity zone i" ], "alt_id": [], "def": "Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula.", "synonym": [ [ "rop zone 1", "rop zone 1" ] ], "xref": [], "is_a": [ "HP:0500049" ], "is_obsolete": "", "replace_id": "" }, "HP:0500060": { "name": [ "retinopathy of prematurity zone ii", "retinopathy of prematurity zone ii" ], "alt_id": [], "def": "Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata.", "synonym": [ [ "rop zone ii", "rop zone ii" ] ], "xref": [], "is_a": [ "HP:0500049" ], "is_obsolete": "", "replace_id": "" }, "HP:0500061": { "name": [ "retinopathy of prematurity zone iii", "retinopathy of prematurity zone iii" ], "alt_id": [], "def": "Retinopathy which is a residual crescent of retina anterior to zone II.", "synonym": [ [ "rop zone iii", "rop zone iii" ] ], "xref": [], "is_a": [ "HP:0500049" ], "is_obsolete": "", "replace_id": "" }, "HP:0500062": { "name": [ "retinopathy of prematurity plus", "retinopathy of prematurity plus" ], "alt_id": [], "def": "Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye.", "synonym": [ [ "rop plus", "rop plus" ] ], "xref": [], "is_a": [ "HP:0500049" ], "is_obsolete": "", "replace_id": "" }, "HP:0500063": { "name": [ "retinopathy of prematurity pre - plus", "retinopathy of prematurity pre - plus" ], "alt_id": [], "def": "As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal.", "synonym": [ [ "rop pre - plus", "rop pre - plus" ] ], "xref": [], "is_a": [ "HP:0500049" ], "is_obsolete": "", "replace_id": "" }, "HP:0500064": { "name": [ "retinopathy of prematurity threshold", "retinopathy of prematurity threshold" ], "alt_id": [], "def": "A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease.", "synonym": [ [ "rop threshold", "rop threshold" ] ], "xref": [], "is_a": [ "HP:0500049" ], "is_obsolete": "", "replace_id": "" }, "HP:0500065": { "name": [ "retinopathy of prematurity prethreshold", "retinopathy of prematurity prethreshold" ], "alt_id": [], "def": "High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both.", "synonym": [ [ "rop prethreshold", "rop prethreshold" ] ], "xref": [], "is_a": [ "HP:0500049" ], "is_obsolete": "", "replace_id": "" }, "HP:0500066": { "name": [ "latent myopia", "latent myopia" ], "alt_id": [], "def": "The difference between total and manifest myopia.", "synonym": [], "xref": [], "is_a": [ "HP:0000545" ], "is_obsolete": "", "replace_id": "" }, "HP:0500069": { "name": [ "paralytic ectropion", "paralytic ectropion" ], "alt_id": [], "def": "A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy.", "synonym": [], "xref": [], "is_a": [ "HP:0000656" ], "is_obsolete": "", "replace_id": "" }, "HP:0500070": { "name": [ "conjunctival dermolipoma", "conjunctival dermolipoma" ], "alt_id": [], "def": "A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus.", "synonym": [], "xref": [], "is_a": [ "HP:0000502" ], "is_obsolete": "", "replace_id": "" }, "HP:0500072": { "name": [ "absolute eccentric fixation", "absolute eccentric fixation" ], "alt_id": [], "def": "Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation.", "synonym": [], "xref": [], "is_a": [ "HP:0025549" ], "is_obsolete": "", "replace_id": "" }, "HP:0500073": { "name": [ "abnormal ocular alignment", "abnormal ocular alignment" ], "alt_id": [], "def": "Any deviation from the normal ocular alignment.", "synonym": [], "xref": [], "is_a": [ "HP:0000496" ], "is_obsolete": "", "replace_id": "" }, "HP:0500074": { "name": [ "dissociated vertical deviation", "dissociated vertical deviation" ], "alt_id": [], "def": "An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering.", "synonym": [], "xref": [], "is_a": [ "HP:0500073" ], "is_obsolete": "", "replace_id": "" }, "HP:0500075": { "name": [ "dissociated horizontal deviation", "dissociate horizontal deviation" ], "alt_id": [], "def": "A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes.", "synonym": [], "xref": [], "is_a": [ "HP:0500073" ], "is_obsolete": "", "replace_id": "" }, "HP:0500076": { "name": [ "alternating hypertropia", "alternate hypertropia" ], "alt_id": [], "def": "A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards.", "synonym": [], "xref": [], "is_a": [ "HP:0025586" ], "is_obsolete": "", "replace_id": "" }, "HP:0500077": { "name": [ "alternating hyperphoria", "alternate hyperphoria" ], "alt_id": [], "def": "A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.", "synonym": [], "xref": [], "is_a": [ "HP:0025585" ], "is_obsolete": "", "replace_id": "" }, "HP:0500078": { "name": [ "alternating hypotropia", "alternate hypotropia" ], "alt_id": [], "def": "A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.", "synonym": [], "xref": [], "is_a": [ "HP:0025584" ], "is_obsolete": "", "replace_id": "" }, "HP:0500079": { "name": [ "alternating hypophoria", "alternate hypophoria" ], "alt_id": [], "def": "A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards.", "synonym": [], "xref": [], "is_a": [ "HP:0031725" ], "is_obsolete": "", "replace_id": "" }, "HP:0500081": { "name": [ "pseudophakia", "pseudophakia" ], "alt_id": [], "def": "The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL).", "synonym": [], "xref": [], "is_a": [ "HP:0000517" ], "is_obsolete": "", "replace_id": "" }, "HP:0500086": { "name": [ "optic nerve gray crescent", "optic nerve gray crescent" ], "alt_id": [], "def": "Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas.", "synonym": [ [ "optic nerve grey crescent", "optic nerve grey crescent" ], [ "temporal gray pigmentary crescent", "temporal gray pigmentary crescent" ], [ "temporal grey pigmentary crescent", "temporal grey pigmentary crescent" ] ], "xref": [], "is_a": [ "HP:0012511" ], "is_obsolete": "", "replace_id": "" }, "HP:0500087": { "name": [ "peripapillary atrophy", "peripapillary atrophy" ], "alt_id": [], "def": "Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.", "synonym": [], "xref": [], "is_a": [ "HP:0012512" ], "is_obsolete": "", "replace_id": "" }, "HP:0500088": { "name": [ "foveal depigmentation", "foveal depigmentation" ], "alt_id": [], "def": "Loss of pigment in the fovea centralis.", "synonym": [], "xref": [], "is_a": [ "HP:0012643" ], "is_obsolete": "", "replace_id": "" }, "HP:0500089": { "name": [ "optic nerve sheath meningioma", "optic nerve sheath meningioma" ], "alt_id": [], "def": "A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2.", "synonym": [], "xref": [], "is_a": [ "HP:0002858" ], "is_obsolete": "", "replace_id": "" }, "HP:0500090": { "name": [ "periocular capillary hemangioma", "periocular capillary hemangioma" ], "alt_id": [], "def": "A capillary hemangioma surrounding the eyeball but within the orbit.", "synonym": [ [ "peri - ocular capillary hemangioma", "peri - ocular capillary hemangioma" ] ], "xref": [], "is_a": [ "HP:0005306" ], "is_obsolete": "", "replace_id": "" }, "HP:0500091": { "name": [ "lymphangioma of the orbit", "lymphangioma of the orbit" ], "alt_id": [], "def": "A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage.", "synonym": [], "xref": [], "is_a": [ "HP:0030670", "HP:0100764" ], "is_obsolete": "", "replace_id": "" }, "HP:0500092": { "name": [ "orbital rhabdomyosarcoma", "orbital rhabdomyosarcoma" ], "alt_id": [], "def": "A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit.", "synonym": [], "xref": [], "is_a": [ "HP:0002859" ], "is_obsolete": "", "replace_id": "" }, "HP:0500093": { "name": [ "food allergy", "food allergy" ], "alt_id": [], "def": "Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.", "synonym": [ [ "food allergy", "food allergy" ], [ "ige - mediated food allergy", "ige - mediate food allergy" ], [ "immunoglobulin e - mediated food allergy", "immunoglobulin e - mediate food allergy" ] ], "xref": [], "is_a": [ "HP:0012393" ], "is_obsolete": "", "replace_id": "" }, "HP:0500094": { "name": [ "latex allergy", "latex allergy" ], "alt_id": [], "def": "Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis.", "synonym": [], "xref": [], "is_a": [ "HP:0012393" ], "is_obsolete": "", "replace_id": "" }, "HP:0500095": { "name": [ "food - induced anaphylaxis", "food - induced anaphylaxis" ], "alt_id": [], "def": "Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food.", "synonym": [], "xref": [], "is_a": [ "HP:0100845" ], "is_obsolete": "", "replace_id": "" }, "HP:0500096": { "name": [ "venom - induced anaphylaxis", "venom - induced anaphylaxis" ], "alt_id": [], "def": "A form of anaphylaxis that is triggered by exposure to venom.", "synonym": [], "xref": [], "is_a": [ "HP:0100845" ], "is_obsolete": "", "replace_id": "" }, "HP:0500097": { "name": [ "stool xenobiotic", "stool xenobiotic" ], "alt_id": [], "def": "Presence of xenobiotic in stool.", "synonym": [], "xref": [], "is_a": [ "HP:0031838" ], "is_obsolete": "", "replace_id": "" }, "HP:0500098": { "name": [ "meconium xenobiotic", "meconium xenobiotic" ], "alt_id": [], "def": "Presence of a xenobiotic in meconium.", "synonym": [], "xref": [], "is_a": [ "HP:0500097" ], "is_obsolete": "", "replace_id": "" }, "HP:0500099": { "name": [ "hair xenobiotic", "hair xenobiotic" ], "alt_id": [], "def": "Presence of xenobiotic in hair.", "synonym": [], "xref": [], "is_a": [ "HP:0031838" ], "is_obsolete": "", "replace_id": "" }, "HP:0500100": { "name": [ "plasma / serum xenobiotic", "plasma / serum xenobiotic" ], "alt_id": [], "def": "Presence of a xenobiotic in plasma and/or serum.", "synonym": [], "xref": [], "is_a": [ "HP:0410172" ], "is_obsolete": "", "replace_id": "" }, "HP:0500101": { "name": [ "gastric fluid xenobiotic", "gastric fluid xenobiotic" ], "alt_id": [], "def": "Presence of a xenobiotic in gastric fluid.", "synonym": [], "xref": [], "is_a": [ "HP:0031838" ], "is_obsolete": "", "replace_id": "" }, "HP:0500104": { "name": [ "decreased diastolic blood pressure", "decrease diastolic blood pressure" ], "alt_id": [], "def": "Abnormal decrease in diastolic blood pressure.", "synonym": [ [ "decreased diastolic bp", "decrease diastolic bp" ], [ "reduced diastolic blood pressure", "reduce diastolic blood pressure" ] ], "xref": [], "is_a": [ "HP:0002615" ], "is_obsolete": "", "replace_id": "" }, "HP:0500105": { "name": [ "decreased systolic blood pressure", "decrease systolic blood pressure" ], "alt_id": [], "def": "Abnormal decrease in systolic blood pressure.", "synonym": [ [ "decreased systolic bp", "decrease systolic bp" ], [ "reduced systolic blood pressure", "reduce systolic blood pressure" ] ], "xref": [], "is_a": [ "HP:0002615" ], "is_obsolete": "", "replace_id": "" }, "HP:0500106": { "name": [ "isolated systolic hypertension", "isolate systolic hypertension" ], "alt_id": [], "def": "Elevated systolic blood pressure without an elevated blood pressure.", "synonym": [], "xref": [], "is_a": [ "HP:0004421" ], "is_obsolete": "", "replace_id": "" }, "HP:0500107": { "name": [ "isolated diastolic hypotension", "isolate diastolic hypotension" ], "alt_id": [], "def": "A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg).", "synonym": [], "xref": [], "is_a": [ "HP:0500104" ], "is_obsolete": "", "replace_id": "" }, "HP:0500108": { "name": [ "positive urine cocaine test", "positive urine cocaine test" ], "alt_id": [], "def": "Detection of cocaine or its major metabolite, benzoylecgonine, in urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031840" ], "is_obsolete": "", "replace_id": "" }, "HP:0500109": { "name": [ "positive urine barbiturate test", "positive urine barbiturate test" ], "alt_id": [], "def": "Detection of barbiturate metabolites such as Phenobarbital in urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031840" ], "is_obsolete": "", "replace_id": "" }, "HP:0500110": { "name": [ "positive urine cannabinoid test", "positive urine cannabinoid test" ], "alt_id": [], "def": "Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine.", "synonym": [ [ "positive urine marijuana test", "positive urine marijuana test" ], [ "postive urine pot test", "postive urine pot test" ] ], "xref": [], "is_a": [ "HP:0031840" ], "is_obsolete": "", "replace_id": "" }, "HP:0500111": { "name": [ "positive urine benzodiazepines test", "positive urine benzodiazepine test" ], "alt_id": [], "def": "Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031840" ], "is_obsolete": "", "replace_id": "" }, "HP:0500112": { "name": [ "positive urine amphetamine test", "positive urine amphetamine test" ], "alt_id": [], "def": "Detection of amphetamine or its metabolites in urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031840" ], "is_obsolete": "", "replace_id": "" }, "HP:0500113": { "name": [ "positive urine opioid test", "positive urine opioid test" ], "alt_id": [], "def": "Detection of opioids or opioid metabolites in urine.", "synonym": [], "xref": [], "is_a": [ "HP:0031840" ], "is_obsolete": "", "replace_id": "" }, "HP:0500114": { "name": [ "abnormal stool urobilinogen concentration", "abnormal stool urobilinogen concentration" ], "alt_id": [], "def": "Abnormal concentration of urobilinogen present in the stool.", "synonym": [], "xref": [], "is_a": [ "HP:0031685" ], "is_obsolete": "", "replace_id": "" }, "HP:0500115": { "name": [ "increased stool urobilinogen concentration", "increase stool urobilinogen concentration" ], "alt_id": [], "def": "An increased amount of urobilinogen present in the stool.", "synonym": [], "xref": [], "is_a": [ "HP:0500114" ], "is_obsolete": "", "replace_id": "" }, "HP:0500116": { "name": [ "positive blood barbiturate test", "positive blood barbiturate test" ], "alt_id": [], "def": "Detection of barbiturate metabolites such as Phenobarbital in blood.", "synonym": [], "xref": [], "is_a": [ "HP:0410172" ], "is_obsolete": "", "replace_id": "" }, "HP:0500117": { "name": [ "abnormal csf urate concentration", "abnormal csf urate concentration" ], "alt_id": [], "def": "Abnormal concentration of urate in the cerebrospinal fluid (CSF).", "synonym": [], "xref": [], "is_a": [ "HP:0025454" ], "is_obsolete": "", "replace_id": "" }, "HP:0500132": { "name": [ "hypovalinemia", "hypovalinemia" ], "alt_id": [], "def": "A decreased amount of valine in the blood.", "synonym": [ [ "low blood valine concentration", "low blood valine concentration" ] ], "xref": [], "is_a": [ "HP:0010914" ], "is_obsolete": "", "replace_id": "" }, "HP:0500133": { "name": [ "hypotyrosinemia", "hypotyrosinemia" ], "alt_id": [], "def": "An decreased concentration of tyrosine in the blood.", "synonym": [ [ "decreased tyrosine in blood", "decrease tyrosine in blood" ], [ "low blood tyrosine concentration", "low blood tyrosine concentration" ] ], "xref": [], "is_a": [ "HP:0010917" ], "is_obsolete": "", "replace_id": "" }, "HP:0500134": { "name": [ "hypertryptophanemia", "hypertryptophanemia" ], "alt_id": [], "def": "An increased amount of tryptophan in the blood.", "synonym": [ [ "high blood tryptophan concentration", "high blood tryptophan concentration" ], [ "increased tryptophan in blood", "increase tryptophan in blood" ] ], "xref": [], "is_a": [ "HP:0004365" ], "is_obsolete": "", "replace_id": "" }, "HP:0500135": { "name": [ "hypotryptophanemia", "hypotryptophanemia" ], "alt_id": [], "def": "A decreased amount of tryptophan in the blood.", "synonym": [ [ "decreased tryptophan in blood", "decrease tryptophan in blood" ], [ "low blood tryptophan concentration", "low blood tryptophan concentration" ] ], "xref": [], "is_a": [ "HP:0004365" ], "is_obsolete": "", "replace_id": "" }, "HP:0500136": { "name": [ "hypothreoninemia", "hypothreoninemia" ], "alt_id": [], "def": "A decreased amount of threonine in the blood.", "synonym": [ [ "decreased circulating threonine levels", "decrease circulate threonine level" ], [ "decreased threonine blood levels", "decrease threonine blood level" ], [ "low blood threonine concentration", "low blood threonine concentration" ] ], "xref": [], "is_a": [ "HP:0010900" ], "is_obsolete": "", "replace_id": "" }, "HP:0500138": { "name": [ "hyperserinemia", "hyperserinemia" ], "alt_id": [], "def": "An increased amount of serine in the blood.", "synonym": [ [ "elevated circulating serine levels", "elevate circulate serine level" ], [ "high blood serine levels", "high blood serine level" ], [ "increased serine blood concentration", "increase serine blood concentration" ] ], "xref": [], "is_a": [ "HP:0012278" ], "is_obsolete": "", "replace_id": "" }, "HP:0500139": { "name": [ "hypoprolinemia", "hypoprolinemia" ], "alt_id": [], "def": "A decreased amount of proline in the blood.", "synonym": [ [ "decreased blood proline levels", "decrease blood proline level" ], [ "low blood proline concentration", "low blood proline concentration" ] ], "xref": [], "is_a": [ "HP:0010907" ], "is_obsolete": "", "replace_id": "" }, "HP:0500140": { "name": [ "decreased circulating hydroxyproline concentration", "decrease circulate hydroxyproline concentration" ], "alt_id": [], "def": "A decreased amount of hydroxyproline in the blood.", "synonym": [ [ "decreased hydroxyproline in the blood", "decrease hydroxyproline in the blood" ], [ "low level of hydroxyproline in the blood", "low level of hydroxyproline in the blood" ] ], "xref": [], "is_a": [ "HP:0010907" ], "is_obsolete": "", "replace_id": "" }, "HP:0500141": { "name": [ "hypophenylalaninemia", "hypophenylalaninemia" ], "alt_id": [], "def": "A decreased amount of phenylalanine in the blood.", "synonym": [ [ "decreased blood phenylalanine", "decrease blood phenylalanine" ], [ "low blood phenylalanine", "low blood phenylalanine" ] ], "xref": [], "is_a": [ "HP:0010893" ], "is_obsolete": "", "replace_id": "" }, "HP:0500142": { "name": [ "hypolysinemia", "hypolysinemia" ], "alt_id": [], "def": "A decreased amount of lysine in the blood.", "synonym": [ [ "decreased blood lysine", "decrease blood lysine" ], [ "low blood lysine levels", "low blood lysine level" ] ], "xref": [], "is_a": [ "HP:0010908" ], "is_obsolete": "", "replace_id": "" }, "HP:0500143": { "name": [ "hypoleucinemia", "hypoleucinemia" ], "alt_id": [], "def": "Decreased amount of leucine in the blood.", "synonym": [ [ "decreased blood concentration of leucine", "decrease blood concentration of leucine" ], [ "low blood leucine levels", "low blood leucine level" ] ], "xref": [], "is_a": [ "HP:0004357" ], "is_obsolete": "", "replace_id": "" }, "HP:0500144": { "name": [ "hypoisoleucinemia", "hypoisoleucinemia" ], "alt_id": [], "def": "A decreased amount of isoleucine in the blood.", "synonym": [ [ "decreased blood isoleucine concentration", "decrease blood isoleucine concentration" ], [ "low blood isoleucine levels", "low blood isoleucine level" ] ], "xref": [], "is_a": [ "HP:0010912" ], "is_obsolete": "", "replace_id": "" }, "HP:0500145": { "name": [ "hypohistidinemia", "hypohistidinemia" ], "alt_id": [], "def": "A decreased amount of histidine in the blood.", "synonym": [ [ "decreased blood histidine concentration", "decrease blood histidine concentration" ], [ "low blood histidine levels", "low blood histidine level" ] ], "xref": [], "is_a": [ "HP:0010904" ], "is_obsolete": "", "replace_id": "" }, "HP:0500147": { "name": [ "hypoglutaminemia", "hypoglutaminemia" ], "alt_id": [], "def": "Decreased amount of glutamine in the blood.", "synonym": [ [ "decreased blood glutamine concentration", "decrease blood glutamine concentration" ], [ "low blood glutamine level", "low blood glutamine level" ] ], "xref": [], "is_a": [ "HP:0010903" ], "is_obsolete": "", "replace_id": "" }, "HP:0500148": { "name": [ "abnormal circulating glutamate concentration", "abnormal circulate glutamate concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of glutamate in the blood circulation.", "synonym": [ [ "abnormality of glutamate metabolism", "abnormality of glutamate metabolism" ] ], "xref": [], "is_a": [ "HP:0010902" ], "is_obsolete": "", "replace_id": "" }, "HP:0500149": { "name": [ "hyperglutamatemia", "hyperglutamatemia" ], "alt_id": [], "def": "An increased amount of glutamate in the blood.", "synonym": [ [ "high blood glutamate levels", "high blood glutamate level" ], [ "increased blood glutamate concentration", "increase blood glutamate concentration" ] ], "xref": [], "is_a": [ "HP:0500148" ], "is_obsolete": "", "replace_id": "" }, "HP:0500150": { "name": [ "hypoglutamatemia", "hypoglutamatemia" ], "alt_id": [], "def": "A decreased amount of glutamate in the blood.", "synonym": [ [ "decreased blood glutamate concentrations", "decrease blood glutamate concentration" ], [ "low blood glutamate levels", "low blood glutamate level" ] ], "xref": [], "is_a": [ "HP:0500148" ], "is_obsolete": "", "replace_id": "" }, "HP:0500151": { "name": [ "hypercystinemia", "hypercystinemia" ], "alt_id": [], "def": "An increased amount of cystine in the blood.", "synonym": [ [ "high blood cystine levels", "high blood cystine level" ], [ "increased blood cystine concentraions", "increase blood cystine concentraions" ] ], "xref": [], "is_a": [ "HP:0010918" ], "is_obsolete": "", "replace_id": "" }, "HP:0500152": { "name": [ "hypocystinemia", "hypocystinemia" ], "alt_id": [], "def": "A decreased amount of cystine in the blood.", "synonym": [ [ "decreased blood cystine concentration", "decrease blood cystine concentration" ], [ "low blood cystine levels", "low blood cystine level" ] ], "xref": [], "is_a": [ "HP:0010918" ], "is_obsolete": "", "replace_id": "" }, "HP:0500153": { "name": [ "hyperargininemia", "hyperargininemia" ], "alt_id": [], "def": "An increased amount of arginine levels in the blood.", "synonym": [ [ "high blood arginine levels", "high blood arginine level" ], [ "increased blood arginine concentration", "increase blood arginine concentration" ] ], "xref": [], "is_a": [ "HP:0010909" ], "is_obsolete": "", "replace_id": "" }, "HP:0500154": { "name": [ "hypoalaninemia", "hypoalaninemia" ], "alt_id": [], "def": "A decreased amount of alanine in the blood.", "synonym": [ [ "decreased blood alanine concentration", "decrease blood alanine concentration" ], [ "low blood alanine levels", "low blood alanine level" ] ], "xref": [], "is_a": [ "HP:0010916" ], "is_obsolete": "", "replace_id": "" }, "HP:0500155": { "name": [ "abnormal circulating asparagine concentration", "abnormal circulate asparagine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of asparagine in the blood circulation.", "synonym": [ [ "abnormality of asparagine metabolism", "abnormality of asparagine metabolism" ] ], "xref": [], "is_a": [ "HP:0010899" ], "is_obsolete": "", "replace_id": "" }, "HP:0500156": { "name": [ "hyperasparaginemia", "hyperasparaginemia" ], "alt_id": [], "def": "An increased amount of asparagine in the blood.", "synonym": [ [ "high blood asaparagine levels", "high blood asaparagine level" ], [ "increased blood asparagine concentration", "increase blood asparagine concentration" ] ], "xref": [], "is_a": [ "HP:0500155" ], "is_obsolete": "", "replace_id": "" }, "HP:0500157": { "name": [ "hypoasparaginemia", "hypoasparaginemia" ], "alt_id": [], "def": "A decreased amount of asparagine in the blood.", "synonym": [ [ "decreased blood asparagine concentration", "decrease blood asparagine concentration" ], [ "low blood asparagine levels", "low blood asparagine level" ] ], "xref": [], "is_a": [ "HP:0500155" ], "is_obsolete": "", "replace_id": "" }, "HP:0500158": { "name": [ "abnormal circulating aspartic acid concentration", "abnormal circulate aspartic acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of aspartate in the blood circulation.", "synonym": [ [ "abnormal circulating aspartate concentration", "abnormal circulate aspartate concentration" ] ], "xref": [], "is_a": [ "HP:0010899" ], "is_obsolete": "", "replace_id": "" }, "HP:0500159": { "name": [ "increased level of circulating aspartic acid", "increase level of circulate aspartic acid" ], "alt_id": [], "def": "An increased amount of aspartic acid in the blood.", "synonym": [ [ "high blood aspartic acid levels", "high blood aspartic acid level" ], [ "increased blood aspartic acid", "increase blood aspartic acid" ] ], "xref": [], "is_a": [ "HP:0500158" ], "is_obsolete": "", "replace_id": "" }, "HP:0500160": { "name": [ "abnormal circulating carnosine concentration", "abnormal circulate carnosine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of carnosine in the blood circulation.", "synonym": [ [ "abnormality of carnosine metabolism", "abnormality of carnosine metabolism" ] ], "xref": [], "is_a": [ "HP:0004354" ], "is_obsolete": "", "replace_id": "" }, "HP:0500161": { "name": [ "increased level of carnosine in blood", "increase level of carnosine in blood" ], "alt_id": [], "def": "An increased amount of carnosine in the blood.", "synonym": [ [ "high blood carnosine levels", "high blood carnosine level" ], [ "increased blood carnosine concenrtation", "increase blood carnosine concenrtation" ] ], "xref": [], "is_a": [ "HP:0500160" ], "is_obsolete": "", "replace_id": "" }, "HP:0500162": { "name": [ "decreased level of carnosine in blood", "decrease level of carnosine in blood" ], "alt_id": [], "def": "A decreased amount of carnosine in bood.", "synonym": [ [ "decreased blood carnosine concentration", "decrease blood carnosine concentration" ], [ "low blood carnosine levels", "low blood carnosine level" ] ], "xref": [], "is_a": [ "HP:0500160" ], "is_obsolete": "", "replace_id": "" }, "HP:0500163": { "name": [ "hypoornithinemia", "hypoornithinemia" ], "alt_id": [], "def": "An abnormal decrease in ornithine in the blood.", "synonym": [ [ "decreased blood ornithine concentrations", "decrease blood ornithine concentration" ], [ "low blood ornithine levels", "low blood ornithine level" ] ], "xref": [], "is_a": [ "HP:0012025" ], "is_obsolete": "", "replace_id": "" }, "HP:0500164": { "name": [ "abnormal blood carbon dioxide level", "abnormal blood carbon dioxide level" ], "alt_id": [], "def": "An abnormality of carbon dioxide (CO2) in the arterial blood.", "synonym": [ [ "abnormal blood carbon dioxide level", "abnormal blood carbon dioxide level" ], [ "abnormal co2 levels in blood", "abnormal co2 level in blood" ] ], "xref": [], "is_a": [ "HP:0012415" ], "is_obsolete": "", "replace_id": "" }, "HP:0500165": { "name": [ "abnormal blood oxygen level", "abnormal blood oxygen level" ], "alt_id": [], "def": "An abnormality of the partial pressure of oxygen in the arterial blood.", "synonym": [ [ "abnormal blood o2 level", "abnormal blood o2 level" ], [ "abnormal blood oxygen levels", "abnormal blood oxygen level" ], [ "abnromal o2 blood concentration", "abnromal o2 blood concentration" ] ], "xref": [], "is_a": [ "HP:0012415" ], "is_obsolete": "", "replace_id": "" }, "HP:0500166": { "name": [ "abnormal circulating gastrin concentration", "abnormal circulate gastrin concentration" ], "alt_id": [], "def": "An abnormal concentration of gastrin in the blood.", "synonym": [ [ "abnormal circulating gastrin level", "abnormal circulate gastrin level" ] ], "xref": [], "is_a": [ "HP:0003117" ], "is_obsolete": "", "replace_id": "" }, "HP:0500167": { "name": [ "hypergastrinemia", "hypergastrinemia" ], "alt_id": [], "def": "An elevated amount of gastrin in the blood.", "synonym": [ [ "elevated gastrin in the blood", "elevate gastrin in the blood" ], [ "increased blood gastrin", "increase blood gastrin" ] ], "xref": [], "is_a": [ "HP:0500166" ], "is_obsolete": "", "replace_id": "" }, "HP:0500170": { "name": [ "abnormal concentration of acylcarnitine in the urine", "abnormal concentration of acylcarnitine in the urine" ], "alt_id": [], "def": "An abnormal amount of acylcarnitine in the urine.", "synonym": [], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0500173": { "name": [ "reflex asystolic syncope", "reflex asystolic syncope" ], "alt_id": [], "def": "A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure.", "synonym": [ [ "reflex anoxic seizure", "reflex anoxic seizure" ], [ "reflex anoxic seizures", "reflex anoxic seizure" ] ], "xref": [], "is_a": [ "HP:0001279" ], "is_obsolete": "", "replace_id": "" }, "HP:0500180": { "name": [ "abnormal circulating amino sulfonic acid concentration", "abnormal circulate amino sulfonic acid concentration" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0032180" ], "is_obsolete": "", "replace_id": "" }, "HP:0500181": { "name": [ "hypertaurinemia", "hypertaurinemia" ], "alt_id": [], "def": "An increased amount of taurine in the blood.", "synonym": [ [ "elevated serum taurine levels", "elevate serum taurine level" ], [ "increased circulating taurine levels in the blood", "increase circulate taurine level in the blood" ] ], "xref": [], "is_a": [ "HP:0500180" ], "is_obsolete": "", "replace_id": "" }, "HP:0500182": { "name": [ "hypotaurinemia", "hypotaurinemia" ], "alt_id": [], "def": "A decreased amount of taurine in the blood.", "synonym": [ [ "decreased circulating taurine levels", "decrease circulate taurine level" ], [ "lower blood levels of taurine", "low blood level of taurine" ], [ "reduced taurine levels in the blood", "reduce taurine level in the blood" ] ], "xref": [], "is_a": [ "HP:0500180" ], "is_obsolete": "", "replace_id": "" }, "HP:0500183": { "name": [ "abnormal csf carboxylic acid concentration", "abnormal csf carboxylic acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid.", "synonym": [], "xref": [], "is_a": [ "HP:0032207" ], "is_obsolete": "", "replace_id": "" }, "HP:0500184": { "name": [ "abnormal csf amino acid concentration", "abnormal csf amino acid concentration" ], "alt_id": [ "HP:0032364" ], "def": "Any deviation from the normal concentration of amino acids in the cerebrospinal fluid.", "synonym": [ [ "abnormal amino acid levels in cerebrospinal fluid", "abnormal amino acid level in cerebrospinal fluid" ], [ "abnormal cerebrospinal fluid amino acid level", "abnormal cerebrospinal fluid amino acid level" ], [ "abnormal csf amino acid level", "abnormal csf amino acid level" ] ], "xref": [], "is_a": [ "HP:0500183" ], "is_obsolete": "", "replace_id": "" }, "HP:0500185": { "name": [ "abnormal csf branched chain amino acid concentration", "abnormal csf branch chain amino acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.", "synonym": [ [ "abnormal branched - chain amino acid levels in cerbrospinal fluid", "abnormal branch - chain amino acid level in cerbrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500184" ], "is_obsolete": "", "replace_id": "" }, "HP:0500186": { "name": [ "abnormal csf valine concentration", "abnormal csf valine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of valine in the cerebrospinal fluid.", "synonym": [ [ "abnormal valine levels in cerebrospinal fluid", "abnormal valine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500185" ], "is_obsolete": "", "replace_id": "" }, "HP:0500187": { "name": [ "increased csf valine concentration", "increase csf valine concentration" ], "alt_id": [], "def": "Any increased amount from normal of valine in the cerebrospinal fluid.", "synonym": [ [ "high valine levels in cerebrospinal fluid", "high valine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500186" ], "is_obsolete": "", "replace_id": "" }, "HP:0500188": { "name": [ "decreased csf valine concentration", "decrease csf valine concentration" ], "alt_id": [], "def": "Any decreased amount from normal of valine in the cerebrospinal fluid.", "synonym": [ [ "low valine levels in cerebrospinal fluid", "low valine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500186" ], "is_obsolete": "", "replace_id": "" }, "HP:0500189": { "name": [ "abnormal csf leucine concentration", "abnormal csf leucine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of leucine in the cerebrospinal fluid.", "synonym": [ [ "abnormal leucine levels in cerebrospinal fluid", "abnormal leucine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500185" ], "is_obsolete": "", "replace_id": "" }, "HP:0500190": { "name": [ "decreased csf leucine concentration", "decrease csf leucine concentration" ], "alt_id": [], "def": "Abnormally decreased levels of leucine in the cerebrospinal fluid.", "synonym": [ [ "low leucine levels in cerebrospinal fluid", "low leucine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500189" ], "is_obsolete": "", "replace_id": "" }, "HP:0500191": { "name": [ "increased csf leucine concentration", "increase csf leucine concentration" ], "alt_id": [], "def": "Abnormally increased levels of leucine in cerebrospinal fluid.", "synonym": [ [ "high leucine levels in cerebrospinal fluid", "high leucine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500189" ], "is_obsolete": "", "replace_id": "" }, "HP:0500192": { "name": [ "abnormal csf isoleucine concentration", "abnormal csf isoleucine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid.", "synonym": [ [ "abnormal isoleucine levels in cerebrospinal fluid", "abnormal isoleucine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500185" ], "is_obsolete": "", "replace_id": "" }, "HP:0500193": { "name": [ "increased csf isoleucine concentration", "increase csf isoleucine concentration" ], "alt_id": [], "def": "Abnormally increased levels of isoleucine in cerebrospinal fluid.", "synonym": [ [ "high levels of isoleucine in cerebrospinal fluid", "high level of isoleucine in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500192" ], "is_obsolete": "", "replace_id": "" }, "HP:0500194": { "name": [ "decreased csf isoleucine concentration", "decrease csf isoleucine concentration" ], "alt_id": [], "def": "Abnormally decreased levels of isoleucine in cerebrospinal fluid.", "synonym": [ [ "low levels of isoleucine in cerebrospinal fluid", "low level of isoleucine in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500192" ], "is_obsolete": "", "replace_id": "" }, "HP:0500195": { "name": [ "abnormal csf glutamine family amino acid concentration", "abnormal csf glutamine family amino acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid.", "synonym": [ [ "abnormal glutamine family amino acid levels in cerebrospinal fluid", "abnormal glutamine family amino acid level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500184" ], "is_obsolete": "", "replace_id": "" }, "HP:0500196": { "name": [ "abnormal csf glutamine concentration", "abnormal csf glutamine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid.", "synonym": [ [ "abnormal glutamine levels in cerebrospinal fluid", "abnormal glutamine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500195" ], "is_obsolete": "", "replace_id": "" }, "HP:0500197": { "name": [ "increased csf glutamine concentration", "increase csf glutamine concentration" ], "alt_id": [], "def": "Abnormally increased levels of glutamine in cerebrospinal fluid.", "synonym": [ [ "high glutamine levels in cerebrospinal fluid", "high glutamine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500196" ], "is_obsolete": "", "replace_id": "" }, "HP:0500198": { "name": [ "decreased csf glutamine concentration", "decrease csf glutamine concentration" ], "alt_id": [], "def": "Abnormally decreased levels of glutamine in cerebrospinal fluid.", "synonym": [ [ "low glutamine levels in cerebrospinal fluid", "low glutamine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500196" ], "is_obsolete": "", "replace_id": "" }, "HP:0500199": { "name": [ "abnormal csf glutamate concentration", "abnormal csf glutamate concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid.", "synonym": [ [ "abnormal glutamic acid levels in cerebrospinal fluid", "abnormal glutamic acid level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500195" ], "is_obsolete": "", "replace_id": "" }, "HP:0500200": { "name": [ "increased csf glutamate concentration", "increase csf glutamate concentration" ], "alt_id": [], "def": "Abnormally increased levels of glutamic acid in cerebrospinal fluid.", "synonym": [ [ "high glutamic acid levels in cerebrospinal fluid", "high glutamic acid level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500199" ], "is_obsolete": "", "replace_id": "" }, "HP:0500201": { "name": [ "decreased csf glutamate concentration", "decrease csf glutamate concentration" ], "alt_id": [], "def": "Abnormally decreased levels of glutamic acid in cerebrospinal fluid.", "synonym": [ [ "low glutamic acid levels in cerebrospinal fluid", "low glutamic acid level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500199" ], "is_obsolete": "", "replace_id": "" }, "HP:0500202": { "name": [ "abnormal csf arginine concentration", "abnormal csf arginine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of arginine in the cerebrospinal fluid.", "synonym": [ [ "abnormal arginine levels in cerebrospinal fluid", "abnormal arginine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500195" ], "is_obsolete": "", "replace_id": "" }, "HP:0500203": { "name": [ "increased csf arginine concentration", "increase csf arginine concentration" ], "alt_id": [], "def": "Abnormally increased levels of arginine in cerebrospinal fluid.", "synonym": [ [ "high arginine levels in cerebrospinal fluid", "high arginine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500202" ], "is_obsolete": "", "replace_id": "" }, "HP:0500204": { "name": [ "decreased csf arginine concentration", "decrease csf arginine concentration" ], "alt_id": [], "def": "Abnormally decreased levels of arginine in cerebrospinal fluid.", "synonym": [ [ "low arginine levels in cerebrospinal fluid", "low arginine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500202" ], "is_obsolete": "", "replace_id": "" }, "HP:0500205": { "name": [ "abnormal csf aspartate family amino acid concentration", "abnormal csf aspartate family amino acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid.", "synonym": [ [ "abnormal aspartate - family amino acid levels in cerebrospinal fluid", "abnormal aspartate - family amino acid level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500184" ], "is_obsolete": "", "replace_id": "" }, "HP:0500206": { "name": [ "abnormal csf lysine concentration", "abnormal csf lysine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of lysine in the cerebrospinal fluid.", "synonym": [ [ "abnormal lysine levels in cerebrospinal fluid", "abnormal lysine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500205" ], "is_obsolete": "", "replace_id": "" }, "HP:0500207": { "name": [ "decreased csf lysine concentration", "decrease csf lysine concentration" ], "alt_id": [], "def": "Abnormally decreased levels of lysine in cerebrospinal fluid.", "synonym": [ [ "low lysine levels in cerebrospinal fluid", "low lysine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500206" ], "is_obsolete": "", "replace_id": "" }, "HP:0500208": { "name": [ "increased csf lysine concentration", "increase csf lysine concentration" ], "alt_id": [], "def": "Abnormally increased levels of lysine in cerebrospinal fluid.", "synonym": [ [ "high lysine levels in cerebrospinal fluid", "high lysine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500206" ], "is_obsolete": "", "replace_id": "" }, "HP:0500209": { "name": [ "abnormal csf methionine concentration", "abnormal csf methionine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of methionine in the cerebrospinal fluid.", "synonym": [ [ "abnormal methionine levels in cerebrospinal fluid", "abnormal methionine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500205" ], "is_obsolete": "", "replace_id": "" }, "HP:0500210": { "name": [ "increased csf methionine concentration", "increase csf methionine concentration" ], "alt_id": [], "def": "Abnormally increased levels of methionine in cerebrospinal fluid.", "synonym": [ [ "high methionine levels in cerebrospinal fluid", "high methionine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500209" ], "is_obsolete": "", "replace_id": "" }, "HP:0500211": { "name": [ "abnormal csf threonine concentration", "abnormal csf threonine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of threonine in the cerebrospinal fluid.", "synonym": [ [ "abnormal threonine levels in cerebrospinal fluid", "abnormal threonine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500205" ], "is_obsolete": "", "replace_id": "" }, "HP:0500212": { "name": [ "increased csf threonine concentration", "increase csf threonine concentration" ], "alt_id": [], "def": "Abnormally increased levels of threonine in cerebrospinal fluid.", "synonym": [ [ "high threonine levels in cerebrospinal fluid", "high threonine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500211" ], "is_obsolete": "", "replace_id": "" }, "HP:0500213": { "name": [ "decreased csf threonine concentration", "decrease csf threonine concentration" ], "alt_id": [], "def": "Abnormally decreased levels of threonine in cerebrospinal fluid.", "synonym": [ [ "low threonine levels in the cerebrospinal fluid", "low threonine level in the cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500211" ], "is_obsolete": "", "replace_id": "" }, "HP:0500214": { "name": [ "abnormal csf aromatic amino acid concentration", "abnormal csf aromatic amino acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid.", "synonym": [ [ "abnormal aromatic amino acid levels in cerebrospinal fluid", "abnormal aromatic amino acid level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500184" ], "is_obsolete": "", "replace_id": "" }, "HP:0500215": { "name": [ "abnormal csf phenylalanine concentration", "abnormal csf phenylalanine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid.", "synonym": [ [ "abnormal phenylalanine levels in cerebrospinal fluid", "abnormal phenylalanine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500214" ], "is_obsolete": "", "replace_id": "" }, "HP:0500216": { "name": [ "abnormal csf aspartate concentration", "abnormal csf aspartate concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid.", "synonym": [ [ "abnormal aspartic acid levels in cerebrospinal fluid", "abnormal aspartic acid level in cerebrospinal fluid" ], [ "abnormal csf aspartic acid concentration", "abnormal csf aspartic acid concentration" ] ], "xref": [], "is_a": [ "HP:0500205" ], "is_obsolete": "", "replace_id": "" }, "HP:0500217": { "name": [ "increased csf aspartate concentration", "increase csf aspartate concentration" ], "alt_id": [], "def": "Abnormally increased levels of aspartic acid in cerebrospinal fluid.", "synonym": [ [ "high aspartic acid levels in cerebrospinal fluid", "high aspartic acid level in cerebrospinal fluid" ], [ "increased csf aspartic acid concentration", "increase csf aspartic acid concentration" ] ], "xref": [], "is_a": [ "HP:0500216" ], "is_obsolete": "", "replace_id": "" }, "HP:0500218": { "name": [ "abnormal csf tryptophan concentration", "abnormal csf tryptophan concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid.", "synonym": [ [ "abnormal tryptophan levels in cerebrospinal fluid", "abnormal tryptophan level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500214" ], "is_obsolete": "", "replace_id": "" }, "HP:0500219": { "name": [ "abnormal csf tyrosine concentration", "abnormal csf tyrosine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid.", "synonym": [ [ "abnormal tyrosine levels in cerebrospinal fluid", "abnormal tyrosine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500214" ], "is_obsolete": "", "replace_id": "" }, "HP:0500220": { "name": [ "increased csf tyrosine concentration", "increase csf tyrosine concentration" ], "alt_id": [], "def": "Abnormally increased levels of tyrosine in cerebrospinal fluid.", "synonym": [ [ "high tyrosine levels in cerebrospinal fluid", "high tyrosine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500219" ], "is_obsolete": "", "replace_id": "" }, "HP:0500221": { "name": [ "decreased csf tyrosine concentration", "decrease csf tyrosine concentration" ], "alt_id": [], "def": "Abnormally decreased levels of tyrosine in cerebrospinal fluid.", "synonym": [ [ "low tyrosine levels in the cerebrospinal fluid", "low tyrosine level in the cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500219" ], "is_obsolete": "", "replace_id": "" }, "HP:0500222": { "name": [ "increased csf tryptophan concentration", "increase csf tryptophan concentration" ], "alt_id": [], "def": "Abnormally increased levels of tryptophan in cerebrospinal fluid.", "synonym": [ [ "high tryptophan levels in cerebrospinal fluid", "high tryptophan level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500218" ], "is_obsolete": "", "replace_id": "" }, "HP:0500223": { "name": [ "increased csf phenylalanine concentration", "increase csf phenylalanine concentration" ], "alt_id": [], "def": "Abnormally increased levels of phenylalanine in cerebrospinal fluid.", "synonym": [ [ "high phenylalanine levels in cerebrospinal fluid", "high phenylalanine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500215" ], "is_obsolete": "", "replace_id": "" }, "HP:0500224": { "name": [ "decreased csf phenylalanine concentration", "decrease csf phenylalanine concentration" ], "alt_id": [], "def": "Abnormally decreased levels of phenylalanine in cerebrospinal fluid.", "synonym": [ [ "low phenylalanine levels in cerebrospinal fluid", "low phenylalanine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500215" ], "is_obsolete": "", "replace_id": "" }, "HP:0500225": { "name": [ "abnormal csf serine family amino acid concentration", "abnormal csf serine family amino acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.", "synonym": [ [ "abnormal serine - family amino acid levels in cerebrospinal fluid", "abnormal serine - family amino acid level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500184" ], "is_obsolete": "", "replace_id": "" }, "HP:0500226": { "name": [ "abnormal csf serine concentration", "abnormal csf serine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of serine in the cerebrospinal fluid.", "synonym": [ [ "abnormal serine levels in cerebrospinal fluid", "abnormal serine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500225" ], "is_obsolete": "", "replace_id": "" }, "HP:0500227": { "name": [ "increased csf serine concentration", "increase csf serine concentration" ], "alt_id": [], "def": "Abnormally increased levels of serine in cerebrospinal fluid.", "synonym": [ [ "high serine levels in cerebrospinal fluid", "high serine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500226" ], "is_obsolete": "", "replace_id": "" }, "HP:0500228": { "name": [ "decreased csf serine concentration", "decrease csf serine concentration" ], "alt_id": [], "def": "Abnormally decreased levels of serine in cerebrospinal fluid.", "synonym": [ [ "low serine levels in cerebrospinal fluid", "low serine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500226" ], "is_obsolete": "", "replace_id": "" }, "HP:0500229": { "name": [ "abnormal csf glycine concentration", "abnormal csf glycine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of glycine in the cerebrospinal fluid.", "synonym": [ [ "abnormal glycine levels in cerebrospinal fluid", "abnormal glycine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500225" ], "is_obsolete": "", "replace_id": "" }, "HP:0500230": { "name": [ "increased csf glycine concentration", "increase csf glycine concentration" ], "alt_id": [], "def": "Abnormally increased levels of glycine in cerebrospinal fluid.", "synonym": [ [ "high glycine levels in cerebrospinal fluid", "high glycine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500229" ], "is_obsolete": "", "replace_id": "" }, "HP:0500231": { "name": [ "abnormal csf pyruvate family amino acid concentration", "abnormal csf pyruvate family amino acid concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.", "synonym": [ [ "abnormal pyruvate - family amino acid levels in cerebrospinal fluid", "abnormal pyruvate - family amino acid level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500184" ], "is_obsolete": "", "replace_id": "" }, "HP:0500232": { "name": [ "abnormal csf alanine concentration", "abnormal csf alanine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of alanine in the cerebrospinal fluid.", "synonym": [ [ "abnormal alanine levels in cerebrospinal fluid", "abnormal alanine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500231" ], "is_obsolete": "", "replace_id": "" }, "HP:0500233": { "name": [ "increased csf alanine concentration", "increase csf alanine concentration" ], "alt_id": [], "def": "Abnormally increased levels of alanine in cerebrospinal fluid.", "synonym": [ [ "high alanine levels in cerebrospinal fluid", "high alanine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500232" ], "is_obsolete": "", "replace_id": "" }, "HP:0500234": { "name": [ "decreased csf alanine concentration", "decrease csf alanine concentration" ], "alt_id": [], "def": "Abnormally decreased levels of alanine in cerebrospinal fluid.", "synonym": [ [ "low alanine levels in cerebrospinal fluid", "low alanine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500232" ], "is_obsolete": "", "replace_id": "" }, "HP:0500235": { "name": [ "abnormal csf histidine concentration", "abnormal csf histidine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of histidine in the cerebrospinal fluid.", "synonym": [ [ "abnormal histidine levels in cerebrospinal fluid", "abnormal histidine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500184" ], "is_obsolete": "", "replace_id": "" }, "HP:0500236": { "name": [ "increased csf histidine concentration", "increase csf histidine concentration" ], "alt_id": [], "def": "Abnormally increased levels of histidine in cerebrospinal fluid.", "synonym": [ [ "high histidine levels in cerebrospinal fluid", "high histidine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500235" ], "is_obsolete": "", "replace_id": "" }, "HP:0500237": { "name": [ "decreased csf histidine concentration", "decrease csf histidine concentration" ], "alt_id": [], "def": "Abnormally decreased levels of histidine in cerebrospinal fluid.", "synonym": [ [ "low histidine levels in cerebrospinal fluid", "low histidine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500235" ], "is_obsolete": "", "replace_id": "" }, "HP:0500238": { "name": [ "abnormal csf albumin concentration", "abnormal csf albumin concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of albumin in the cerebrospinal fluid.", "synonym": [ [ "abnormal albumin levels in cerebrospinal fluid", "abnormal albumin level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0025456" ], "is_obsolete": "", "replace_id": "" }, "HP:0500239": { "name": [ "increased csf albumin concentration", "increase csf albumin concentration" ], "alt_id": [], "def": "", "synonym": [ [ "high albumin levels in cerebrospinal fluid", "high albumin level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500238" ], "is_obsolete": "", "replace_id": "" }, "HP:0500240": { "name": [ "abnormal csf carnosine concentration", "abnormal csf carnosine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of carnosine in the cerebrospinal fluid.", "synonym": [ [ "abnormal carnosine levels in cerebrospinal fluid", "abnormal carnosine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500184" ], "is_obsolete": "", "replace_id": "" }, "HP:0500241": { "name": [ "abnormal csf homocarnosine concentration", "abnormal csf homocarnosine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid.", "synonym": [ [ "abnormal homocarnosine levels in cerebrospinal fluid", "abnormal homocarnosine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500184" ], "is_obsolete": "", "replace_id": "" }, "HP:0500242": { "name": [ "increased csf homocarnosine concentration", "increase csf homocarnosine concentration" ], "alt_id": [], "def": "Abnormally increased levels of homocarnosine in cerebrospinal fluid.", "synonym": [ [ "high homocarnosine levels in cerebrospinal fluid", "high homocarnosine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500241" ], "is_obsolete": "", "replace_id": "" }, "HP:0500243": { "name": [ "abnormal csf ornithine concentration", "abnormal csf ornithine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of ornithine in the cerebrospinal fluid.", "synonym": [ [ "abnormal ornithine levels in cerebrospinal fluid", "abnormal ornithine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500184" ], "is_obsolete": "", "replace_id": "" }, "HP:0500244": { "name": [ "increased csf ornithine concentration", "increase csf ornithine concentration" ], "alt_id": [], "def": "Abnormally increased levels of ornithine in cerebrospinal fluid.", "synonym": [ [ "high ornithine levels in cerebrospinal fluid", "high ornithine level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500243" ], "is_obsolete": "", "replace_id": "" }, "HP:0500245": { "name": [ "abnormal csf citrulline concentration", "abnormal csf citrulline concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of citrulline in the cerebrospinal fluid.", "synonym": [ [ "abnormal citrulline levels in cerebrospinal fluid", "abnormal citrulline level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500184" ], "is_obsolete": "", "replace_id": "" }, "HP:0500246": { "name": [ "increased csf citrulline concentration", "increase csf citrulline concentration" ], "alt_id": [], "def": "Abnormally increased levels of citrulline in cerebrospinal fluid.", "synonym": [ [ "high citrulline levels in cerebrospinal fluid", "high citrulline level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500245" ], "is_obsolete": "", "replace_id": "" }, "HP:0500247": { "name": [ "abnormal csf alpha - aminobutyrate concentration", "abnormal csf alpha - aminobutyrate concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid.", "synonym": [ [ "abnormal alpha - aminobutyrate levels in cerebrospinal fluid", "abnormal alpha - aminobutyrate level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500184" ], "is_obsolete": "", "replace_id": "" }, "HP:0500248": { "name": [ "increased csf alpha - aminobutyrate concentration", "increase csf alpha - aminobutyrate concentration" ], "alt_id": [], "def": "Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid.", "synonym": [ [ "high alpha - aminobutyrate levels in cerebrospinal fluid", "high alpha - aminobutyrate level in cerebrospinal fluid" ] ], "xref": [], "is_a": [ "HP:0500247" ], "is_obsolete": "", "replace_id": "" }, "HP:0500249": { "name": [ "abnormal circulating ethanolamine concentration", "abnormal circulate ethanolamine concentration" ], "alt_id": [], "def": "Any deviation from the normal concentration of ethanolamine in circulation.", "synonym": [ [ "abnormal ethanolamine levels in the blood", "abnormal ethanolamine level in the blood" ] ], "xref": [], "is_a": [ "HP:0033405" ], "is_obsolete": "", "replace_id": "" }, "HP:0500250": { "name": [ "increased circulating ethanolamine concentration", "increase circulate ethanolamine concentration" ], "alt_id": [], "def": "Abnormally increased levels of ethanolamine in circulation.", "synonym": [ [ "high ethanolamine levels in the blood", "high ethanolamine level in the blood" ] ], "xref": [], "is_a": [ "HP:0500249" ], "is_obsolete": "", "replace_id": "" }, "HP:0500251": { "name": [ "abnormal urine sebacic acid concentration", "abnormal urine sebacic acid concentration" ], "alt_id": [], "def": "Abnormal concentration of sebacic acid in the urine.", "synonym": [ [ "abnormal urine decanedioic acid concentration", "abnormal urine decanedioic acid concentration" ] ], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0500252": { "name": [ "increased urine sebacic acid concentration", "increase urine sebacic acid concentration" ], "alt_id": [], "def": "Elevated concentration of sebacic acid in the urine.", "synonym": [ [ "increased urine decanedioic acid concentration", "increase urine decanedioic acid concentration" ] ], "xref": [], "is_a": [ "HP:0500251" ], "is_obsolete": "", "replace_id": "" }, "HP:0500253": { "name": [ "increased level of gamma - aminobutyric acid in urine", "increase level of gamma - aminobutyric acid in urine" ], "alt_id": [], "def": "Elevated concentration of gamma-aminobutyric acid in the urine.", "synonym": [ [ "increased urinary excretion of gamma - aminobutyric acid ( gaba )", "increase urinary excretion of gamma - aminobutyric acid ( gaba )" ] ], "xref": [], "is_a": [ "HP:0033098" ], "is_obsolete": "", "replace_id": "" }, "HP:0500254": { "name": [ "abnormal urine hexanoylglycine concentration", "abnormal urine hexanoylglycine concentration" ], "alt_id": [], "def": "Abnormal concentration of hexanoylglycine in the urine.", "synonym": [ [ "abnormal urinary n - hexanoylglycine levels", "abnormal urinary n - hexanoylglycine level" ] ], "xref": [], "is_a": [ "HP:0033354" ], "is_obsolete": "", "replace_id": "" }, "HP:0500255": { "name": [ "increased level of hexanoylglycine in urine", "increase level of hexanoylglycine in urine" ], "alt_id": [], "def": "Elevated concentration of hexanoylglycine in the urine.", "synonym": [ [ "elevated urinary n - hexanoylglycine concentration", "elevate urinary n - hexanoylglycine concentration" ] ], "xref": [], "is_a": [ "HP:0500254" ], "is_obsolete": "", "replace_id": "" }, "HP:0500256": { "name": [ "abnormal urine isobutyrylglycine concentration", "abnormal urine isobutyrylglycine concentration" ], "alt_id": [], "def": "Abnormal concentration of isobutyrylglycine in the urine.", "synonym": [ [ "abnormal urinary isobutyrylglycine levels", "abnormal urinary isobutyrylglycine level" ] ], "xref": [], "is_a": [ "HP:0012073" ], "is_obsolete": "", "replace_id": "" }, "HP:0500257": { "name": [ "increased urine isobutyrylglycine concentration", "increase urine isobutyrylglycine concentration" ], "alt_id": [], "def": "Elevated concentration of isobutyrylglycine in the urine.", "synonym": [ [ "high urinary isobutyrylglycine levels", "high urinary isobutyrylglycine level" ] ], "xref": [], "is_a": [ "HP:0500256" ], "is_obsolete": "", "replace_id": "" }, "HP:0500258": { "name": [ "abnormal carbon dioxide level in cord blood", "abnormal carbon dioxide level in cord blood" ], "alt_id": [], "def": "Abnormal amount of carbon dioxide in umbilical cord blood", "synonym": [ [ "abnormal co2 level in cord blood", "abnormal co2 level in cord blood" ], [ "abnormal umbilical cord blood levels of carbon dioxide", "abnormal umbilical cord blood level of carbon dioxide" ] ], "xref": [], "is_a": [ "HP:0410211" ], "is_obsolete": "", "replace_id": "" }, "HP:0500259": { "name": [ "abnormal oxygen level in cord blood", "abnormal oxygen level in cord blood" ], "alt_id": [], "def": "An abnormal level of blood oxygen in the cord blood.", "synonym": [ [ "abnormal cord blood oxygen levels", "abnormal cord blood oxygen level" ], [ "abnormal o2 level in cord blood", "abnormal o2 level in cord blood" ], [ "abnormal oxygen amount in umbilical cord blood", "abnormal oxygen amount in umbilical cord blood" ] ], "xref": [], "is_a": [ "HP:0410211" ], "is_obsolete": "", "replace_id": "" }, "HP:0500260": { "name": [ "triggered by head trauma", "trigger by head trauma" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma.", "synonym": [ [ "head trauma triggered symptoms", "head trauma trigger symptom" ] ], "xref": [], "is_a": [ "HP:0031135" ], "is_obsolete": "", "replace_id": "" }, "HP:0500261": { "name": [ "triggered by anesthetics", "trigger by anesthetic" ], "alt_id": [], "def": "Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics.", "synonym": [ [ "anaesthetics trigger episodes", "anaesthetic trigger episode" ], [ "anaesthetics triggered symptoms", "anaesthetic trigger symptom" ], [ "anesthetics trigger episodes", "anesthetic trigger episode" ], [ "anesthetics triggered symptoms", "anesthetic trigger symptom" ], [ "triggered by anaesthetics", "trigger by anaesthetic" ] ], "xref": [], "is_a": [ "HP:0025204" ], "is_obsolete": "", "replace_id": "" }, "HP:0500262": { "name": [ "atrichia", "atrichia" ], "alt_id": [], "def": "The most dramatic and severe form of hair loss characterized by an absence of hair follicles.", "synonym": [], "xref": [], "is_a": [ "HP:0011362" ], "is_obsolete": "", "replace_id": "" }, "HP:0500263": { "name": [ "abnormal helper t cell proportion", "abnormal helper t cell proportion" ], "alt_id": [], "def": "Abnormal proportion of helper T cells relative to the total number of T cells.", "synonym": [ [ "abnormal proportion of circulating t - helper cells", "abnormal proportion of circulate t - helper cell" ] ], "xref": [], "is_a": [ "HP:0025540" ], "is_obsolete": "", "replace_id": "" }, "HP:0500264": { "name": [ "increased helper t cell proportion", "increase helper t cell proportion" ], "alt_id": [], "def": "Increased proportion of helper T cells relative to the total number of T cells.", "synonym": [ [ "elevated helper t cell proportion", "elevate helper t cell proportion" ], [ "increased proportion t - helper cells", "increase proportion t - helper cell" ] ], "xref": [], "is_a": [ "HP:0500263" ], "is_obsolete": "", "replace_id": "" }, "HP:0500265": { "name": [ "increased proportion of cd8 - positive , alpha - beta temra t cells", "increase proportion of cd8 - positive , alpha - beta temra t cell" ], "alt_id": [], "def": "An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.", "synonym": [ [ "increased proportion of effector memory cd8 - positive , alpha - beta t cells , terminally differentiated", "increase proportion of effector memory cd8 - positive , alpha - beta t cell , terminally differentiate" ] ], "xref": [], "is_a": [ "HP:0020177", "HP:0410392" ], "is_obsolete": "", "replace_id": "" }, "HP:0500266": { "name": [ "decreased proportion of cd8 - positive , alpha - beta temra t cells", "decreased proportion of cd8 - positive , alpha - beta temra t cell" ], "alt_id": [], "def": "An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.", "synonym": [ [ "decreased proportion effector memory cd8 - positive , alpha - beta t cells , terminally differentiated", "decrease proportion effector memory cd8 - positive , alpha - beta t cell , terminally differentiate" ] ], "xref": [], "is_a": [ "HP:0020177", "HP:0410385" ], "is_obsolete": "", "replace_id": "" }, "HP:0500267": { "name": [ "abnormal proportion of cd4 - positive helper t cells", "abnormal proportion of cd4 - positive helper t cell" ], "alt_id": [], "def": "An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count.", "synonym": [], "xref": [], "is_a": [ "HP:0031392" ], "is_obsolete": "", "replace_id": "" }, "HP:0500269": { "name": [ "abnormal proportion of gamma - delta t cells", "abnormal proportion of gamma - delta t cell" ], "alt_id": [], "def": "Abnormal proportion of gamma-delta T cells relative to the total number of T cells.", "synonym": [ [ "abnormal proportion of gamma - delta t - lymphocytes", "abnormal proportion of gamma - delta t - lymphocyte" ], [ "abnormal proportion of gammadelta t cells", "abnormal proportion of gammadelta t cell" ], [ "abnormal proprotion of gamma - delta t lymphocytes", "abnormal proprotion of gamma - delta t lymphocyte" ] ], "xref": [], "is_a": [ "HP:0025540" ], "is_obsolete": "", "replace_id": "" }, "HP:0500270": { "name": [ "increased proportion of gamma - delta t cells", "increase proportion of gamma - delta t cell" ], "alt_id": [], "def": "Increased proportion of gamma-delta T cells relative to the total number of T cells.", "synonym": [ [ "elevated proportion of gamma - delta t cells", "elevate proportion of gamma - delta t cell" ], [ "increased proportion of gamma - delta t lymphocytes", "increase proportion of gamma - delta t lymphocyte" ], [ "increased proportion of gamma - delta t - cells", "increase proportion of gamma - delta t - cell" ], [ "increased proportion of gamma - delta t - lymphocytes", "increase proportion of gamma - delta t - lymphocyte" ], [ "increased proportion of gammadelta t cells", "increase proportion of gammadelta t cell" ] ], "xref": [], "is_a": [ "HP:0500269" ], "is_obsolete": "", "replace_id": "" }, "HP:0500271": { "name": [ "decreased proportion of gamma - delta t cells", "decreased proportion of gamma - delta t cell" ], "alt_id": [], "def": "Decreased proportion of gamma-delta T cells relative to the total number of T cells.", "synonym": [ [ "decreased proportion of gamma - delta t lymphocytes", "decreased proportion of gamma - delta t lymphocyte" ], [ "decreased proportion of gamma - delta t - cells", "decreased proportion of gamma - delta t - cell" ], [ "decreased proportion of gamma - delta t - lymphocytes", "decreased proportion of gamma - delta t - lymphocyte" ], [ "decreased proportion of gammadelta t cells", "decreased proportion of gammadelta t cell" ], [ "reduced proportion of gamma - delta t cells", "reduce proportion of gamma - delta t cell" ] ], "xref": [], "is_a": [ "HP:0500269" ], "is_obsolete": "", "replace_id": "" }, "HP:0500272": { "name": [ "abnormal proportion of immature gamma - delta t cells", "abnormal proportion of immature gamma - delta t cell" ], "alt_id": [], "def": "Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells.", "synonym": [ [ "abnormal proportion of immature gamma - delta t lymphocytes", "abnormal proportion of immature gamma - delta t lymphocyte" ], [ "abnormal proportion of immature gamma - delta t - cells", "abnormal proportion of immature gamma - delta t - cell" ], [ "abnormal proportion of immature gamma - delta t - lymphocytes", "abnormal proportion of immature gamma - delta t - lymphocyte" ] ], "xref": [], "is_a": [ "HP:0025540" ], "is_obsolete": "", "replace_id": "" }, "HP:0500273": { "name": [ "increased proportion of immature gamma - delta t cells", "increase proportion of immature gamma - delta t cell" ], "alt_id": [], "def": "Increased proportion of immature gamma-delta T cells relative to the total number of T cells.", "synonym": [ [ "elevated proportion of immature gamma - delta t cells", "elevate proportion of immature gamma - delta t cell" ], [ "increased proportion of immature gamma - delat t lymphocytes", "increase proportion of immature gamma - delat t lymphocyte" ], [ "increased proportion of immature gamma - delta t - cells", "increase proportion of immature gamma - delta t - cell" ], [ "increased proportion of immature gamma - delta t - lymphocytes", "increase proportion of immature gamma - delta t - lymphocyte" ] ], "xref": [], "is_a": [ "HP:0500270", "HP:0500272" ], "is_obsolete": "", "replace_id": "" }, "HP:0500274": { "name": [ "decreased proportion of immature gamma - delta t cells", "decreased proportion of immature gamma - delta t cell" ], "alt_id": [], "def": "Decreased proportion of immature gamma-delta T cells relative to the total number of T cells.", "synonym": [ [ "decreased proportion of immature gamma - delta t lymphocytes", "decreased proportion of immature gamma - delta t lymphocyte" ], [ "decreased proportion of immature gamma - delta t - cells", "decreased proportion of immature gamma - delta t - cell" ], [ "decreased proportion of immature gamma - delta t - lymphocytes", "decreased proportion of immature gamma - delta t - lymphocyte" ], [ "reduced proportion of immature gamma - delta t cells", "reduce proportion of immature gamma - delta t cell" ] ], "xref": [], "is_a": [ "HP:0500271", "HP:0500272" ], "is_obsolete": "", "replace_id": "" }, "HP:0550003": { "name": [ "proximal scleroderma", "proximal scleroderma" ], "alt_id": [], "def": "Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk.", "synonym": [], "xref": [], "is_a": [ "HP:0100324" ], "is_obsolete": "", "replace_id": "" }, "HP:0550004": { "name": [ "verruca plana", "verruca plana" ], "alt_id": [], "def": "Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals.", "synonym": [ [ "flat wart", "flat wart" ] ], "xref": [], "is_a": [ "HP:0200043" ], "is_obsolete": "", "replace_id": "" }, "HP:0550005": { "name": [ "bilateral basilar pulmonary fibrosis", "bilateral basilar pulmonary fibrosis" ], "alt_id": [], "def": "It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis.", "synonym": [ [ "lung disease with systemic sclerosis", "lung disease with systemic sclerosis" ], [ "scleroderma lung disease", "scleroderma lung disease" ], [ "scleroderma of lung", "scleroderma of lung" ] ], "xref": [], "is_a": [ "HP:0002206" ], "is_obsolete": "", "replace_id": "" }, "HP:3000001": { "name": [ "obsolete abnormal heart morphology", "obsolete abnormal heart morphology" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "HP:0001627" }, "HP:3000002": { "name": [ "abnormal inner ear epithelium morphology", "abnormal inner ear epithelium morphology" ], "alt_id": [], "def": "Any structural anomaly of an inner ear epithelium.", "synonym": [], "xref": [ "UMLS:C4073211" ], "is_a": [ "HP:0011390" ], "is_obsolete": "", "replace_id": "" }, "HP:3000003": { "name": [ "abnormal mandibular ramus morphology", "abnormal mandibular ramus morphology" ], "alt_id": [], "def": "An abnormality of a mandibular ramus.", "synonym": [ [ "abnormality of mandibular ramus", "abnormality of mandibular ramus" ] ], "xref": [ "UMLS:C4073212" ], "is_a": [ "HP:0000163", "HP:0000277" ], "is_obsolete": "", "replace_id": "" }, "HP:3000004": { "name": [ "abnormality of frontalis muscle belly", "abnormality of frontalis muscle belly" ], "alt_id": [], "def": "An abnormality of a frontalis muscle belly.", "synonym": [], "xref": [ "UMLS:C4073213" ], "is_a": [ "HP:0000290", "HP:0040172" ], "is_obsolete": "", "replace_id": "" }, "HP:3000005": { "name": [ "abnormality of masseter muscle", "abnormality of masseter muscle" ], "alt_id": [], "def": "An abnormality of a masseter muscle.", "synonym": [], "xref": [ "UMLS:C4073214" ], "is_a": [ "HP:0410011" ], "is_obsolete": "", "replace_id": "" }, "HP:3000006": { "name": [ "abnormality of medial pterygoid muscle", "abnormality of medial pterygoid muscle" ], "alt_id": [], "def": "An abnormality of a medial pterygoid muscle.", "synonym": [], "xref": [ "UMLS:C4073215" ], "is_a": [ "HP:0410011" ], "is_obsolete": "", "replace_id": "" }, "HP:3000007": { "name": [ "abnormality of mentalis muscle", "abnormality of mentalis muscle" ], "alt_id": [], "def": "An abnormality of a mentalis muscle.", "synonym": [], "xref": [ "UMLS:C4073216" ], "is_a": [ "HP:0000306", "HP:0430019" ], "is_obsolete": "", "replace_id": "" }, "HP:3000008": { "name": [ "abnormality of mylohyoid muscle", "abnormality of mylohyoid muscle" ], "alt_id": [], "def": "An abnormality of a mylohyoid muscle.", "synonym": [], "xref": [ "UMLS:C4073217" ], "is_a": [ "HP:0000301", "HP:0410012", "HP:0410013" ], "is_obsolete": "", "replace_id": "" }, "HP:3000009": { "name": [ "abnormality of nasalis muscle", "abnormality of nasalis muscle" ], "alt_id": [], "def": "An abnormality of a nasalis muscle.", "synonym": [], "xref": [ "UMLS:C4073218" ], "is_a": [ "HP:0000366", "HP:0430018" ], "is_obsolete": "", "replace_id": "" }, "HP:3000010": { "name": [ "abnormality of orbicularis oris muscle", "abnormality of orbicularis oris muscle" ], "alt_id": [], "def": "An abnormality of an orbicularis oris muscle.", "synonym": [], "xref": [ "UMLS:C4073219" ], "is_a": [ "HP:0430019" ], "is_obsolete": "", "replace_id": "" }, "HP:3000011": { "name": [ "abnormality of palatoglossus muscle", "abnormality of palatoglossus muscle" ], "alt_id": [], "def": "An abnormality of a palatoglossus muscle.", "synonym": [], "xref": [ "UMLS:C4073220" ], "is_a": [ "HP:0040174", "HP:0430014" ], "is_obsolete": "", "replace_id": "" }, "HP:3000012": { "name": [ "abnormality of palatopharyngeus muscle", "abnormality of palatopharyngeus muscle" ], "alt_id": [], "def": "An abnormality of a palatopharyngeus muscle.", "synonym": [], "xref": [ "UMLS:C4073221" ], "is_a": [ "HP:0430014", "HP:0430015" ], "is_obsolete": "", "replace_id": "" }, "HP:3000013": { "name": [ "abnormality of platysma", "abnormality of platysma" ], "alt_id": [], "def": "An abnormality of the platysma muscle.", "synonym": [ [ "abnormality of the platysma muscle", "abnormality of the platysma muscle" ] ], "xref": [ "UMLS:C4073222" ], "is_a": [ "HP:0000301", "HP:0001574", "HP:0011006" ], "is_obsolete": "", "replace_id": "" }, "HP:3000014": { "name": [ "abnormality of procerus muscle", "abnormality of procerus muscle" ], "alt_id": [], "def": "An abnormality of a procerus.", "synonym": [], "xref": [ "UMLS:C4073223" ], "is_a": [ "HP:0000366", "HP:0430018" ], "is_obsolete": "", "replace_id": "" }, "HP:3000015": { "name": [ "abnormality of risorius muscle", "abnormality of risorius muscle" ], "alt_id": [], "def": "An abnormality of a risorius muscle.", "synonym": [], "xref": [ "UMLS:C4073224" ], "is_a": [ "HP:0004426", "HP:0430019" ], "is_obsolete": "", "replace_id": "" }, "HP:3000016": { "name": [ "abnormality of styloglossus muscle", "abnormality of styloglossus muscle" ], "alt_id": [], "def": "An abnormality of the styloglossus muscle.", "synonym": [], "xref": [ "UMLS:C4073225" ], "is_a": [ "HP:0040174" ], "is_obsolete": "", "replace_id": "" }, "HP:3000017": { "name": [ "abnormality of temporalis muscle", "abnormality of temporalis muscle" ], "alt_id": [], "def": "An abnormality of a temporalis muscle.", "synonym": [], "xref": [ "UMLS:C4073226" ], "is_a": [ "HP:0410011" ], "is_obsolete": "", "replace_id": "" }, "HP:3000018": { "name": [ "abnormality of zygomaticus major muscle", "abnormality of zygomaticus major muscle" ], "alt_id": [], "def": "An abnormality of a zygomaticus major muscle.", "synonym": [], "xref": [ "UMLS:C4073227" ], "is_a": [ "HP:0004426", "HP:0430019" ], "is_obsolete": "", "replace_id": "" }, "HP:3000019": { "name": [ "abnormality of buccal mucosa", "abnormality of buccal mucosa" ], "alt_id": [], "def": "An abnormality of a buccal mucosa.", "synonym": [ [ "abnormality of cheek mucosa", "abnormality of cheek mucosa" ], [ "abnormality of inside lining of cheek", "abnormality of inside lining of cheek" ] ], "xref": [ "UMLS:C4073228" ], "is_a": [ "HP:0004426" ], "is_obsolete": "", "replace_id": "" }, "HP:3000020": { "name": [ "abnormality of zygomaticus minor muscle", "abnormality of zygomaticus minor muscle" ], "alt_id": [], "def": "An abnormality of a zygomaticus minor muscle.", "synonym": [], "xref": [ "UMLS:C4073229" ], "is_a": [ "HP:0004426", "HP:0430019" ], "is_obsolete": "", "replace_id": "" }, "HP:3000021": { "name": [ "abnormality of buccal fat pad", "abnormality of buccal fat pad" ], "alt_id": [], "def": "An abnormality of a buccal fat pad.", "synonym": [], "xref": [ "UMLS:C4073230" ], "is_a": [ "HP:0004426" ], "is_obsolete": "", "replace_id": "" }, "HP:3000022": { "name": [ "abnormality of cartilage of external ear", "abnormality of cartilage of external ear" ], "alt_id": [], "def": "An abnormality of a cartilage of external ear.", "synonym": [], "xref": [ "UMLS:C4073231" ], "is_a": [ "HP:0000356", "HP:0002763" ], "is_obsolete": "", "replace_id": "" }, "HP:3000023": { "name": [ "abnormality of angular artery", "abnormality of angular artery" ], "alt_id": [], "def": "An abnormality of the angular artery, the terminal branch of the facial artery.", "synonym": [], "xref": [ "UMLS:C4073232" ], "is_a": [ "HP:3000024" ], "is_obsolete": "", "replace_id": "" }, "HP:3000024": { "name": [ "abnormal facial artery morphology", "abnormal facial artery morphology" ], "alt_id": [], "def": "Any structural abnormality of a facial artery, one of the branches of the external carotid artery.", "synonym": [ [ "abnormality of facial artery", "abnormality of facial artery" ] ], "xref": [ "UMLS:C4073233" ], "is_a": [ "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:3000025": { "name": [ "abnormality of ciliary ganglion", "abnormality of ciliary ganglion" ], "alt_id": [], "def": "An abnormality of a ciliary ganglion.", "synonym": [], "xref": [ "UMLS:C4073234" ], "is_a": [ "HP:0410016" ], "is_obsolete": "", "replace_id": "" }, "HP:3000026": { "name": [ "obsolete abnormality of common carotid artery plus branches", "obsolete abnormality of common carotid artery plus branch" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [], "is_obsolete": "true", "replace_id": "" }, "HP:3000027": { "name": [ "abnormality of buccinator muscle", "abnormality of buccinator muscle" ], "alt_id": [], "def": "An abnormality of a buccinator muscle.", "synonym": [], "xref": [ "UMLS:C4073236" ], "is_a": [ "HP:0004426" ], "is_obsolete": "", "replace_id": "" }, "HP:3000028": { "name": [ "abnormality of depressor anguli oris muscle", "abnormality of depressor anguli oris muscle" ], "alt_id": [], "def": "An abnormality of a depressor anguli oris muscle.", "synonym": [], "xref": [ "UMLS:C4073237" ], "is_a": [ "HP:0430019" ], "is_obsolete": "", "replace_id": "" }, "HP:3000029": { "name": [ "abnormality of depressor labii inferioris", "abnormality of depressor labii inferioris" ], "alt_id": [], "def": "An abnormality of a depressor labii inferioris.", "synonym": [ [ "abnormality of depressor labii inferioris muscle", "abnormality of depressor labii inferioris muscle" ] ], "xref": [ "UMLS:C4073238" ], "is_a": [ "HP:0000306", "HP:0430019" ], "is_obsolete": "", "replace_id": "" }, "HP:3000030": { "name": [ "abnormality of bony orbit of skull", "abnormality of bony orbit of skull" ], "alt_id": [], "def": "An abnormality of an orbit of skull.", "synonym": [ [ "abnormality of bones of the orbit of the skull", "abnormality of bone of the orbit of the skull" ], [ "abnormality of the bony eye socket", "abnormality of the bony eye socket" ], [ "abnormality of the orbital bones of skull", "abnormality of the orbital bone of skull" ] ], "xref": [ "UMLS:C4073239" ], "is_a": [ "HP:0000315", "HP:0000929" ], "is_obsolete": "", "replace_id": "" }, "HP:3000031": { "name": [ "abnormality of anterior ethmoidal artery", "abnormality of anterior ethmoidal artery" ], "alt_id": [], "def": "An abnormality of an anterior ethmoidal artery.", "synonym": [], "xref": [ "UMLS:C4073287" ], "is_a": [ "HP:0410006" ], "is_obsolete": "", "replace_id": "" }, "HP:3000032": { "name": [ "abnormality of central retinal artery", "abnormality of central retinal artery" ], "alt_id": [], "def": "An abnormality of a central retinal artery.", "synonym": [], "xref": [ "UMLS:C4073240" ], "is_a": [ "HP:0410006" ], "is_obsolete": "", "replace_id": "" }, "HP:3000033": { "name": [ "abnormal nasopharyngeal adenoid morphology", "abnormal nasopharyngeal adenoid morphology" ], "alt_id": [], "def": "Any abnormality of nasopharyngeal adenoids.", "synonym": [ [ "abnormality of adenoids", "abnormality of adenoid" ], [ "abnormality of nasopharyngeal adenoids", "abnormality of nasopharyngeal adenoid" ], [ "abnormality of nasopharyngeal tonsil", "abnormality of nasopharyngeal tonsil" ], [ "abnormality of pharyngeal tonsil", "abnormality of pharyngeal tonsil" ] ], "xref": [ "UMLS:C4073241" ], "is_a": [ "HP:0001739", "HP:0100765" ], "is_obsolete": "", "replace_id": "" }, "HP:3000034": { "name": [ "abnormality nasal septum cartilage morphology", "abnormality nasal septum cartilage morphology" ], "alt_id": [], "def": "An abnormality of a cartilage of nasal septum.", "synonym": [ [ "abnormality of cartilage of nasal septum", "abnormality of cartilage of nasal septum" ], [ "abnormality of cartilage of septum of nose", "abnormality of cartilage of septum of nose" ], [ "anomaly of cartilage of nasal septum", "anomaly of cartilage of nasal septum" ], [ "deformity of cartilage of nasal septum", "deformity of cartilage of nasal septum" ], [ "malformation of cartilage of nasal septum", "malformation of cartilage of nasal septum" ] ], "xref": [ "UMLS:C4073242" ], "is_a": [ "HP:0000419", "HP:0002763", "HP:0010937" ], "is_obsolete": "", "replace_id": "" }, "HP:3000035": { "name": [ "abnormality of cervical plexus", "abnormality of cervical plexus" ], "alt_id": [], "def": "Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck.", "synonym": [], "xref": [ "UMLS:C4073243" ], "is_a": [ "HP:0410010" ], "is_obsolete": "", "replace_id": "" }, "HP:3000036": { "name": [ "abnormality of head blood vessel", "abnormality of head blood vessel" ], "alt_id": [], "def": "An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head.", "synonym": [ [ "abnormality of blood vessel of head", "abnormality of blood vessel of head" ], [ "abnormality of head blood vessel", "abnormality of head blood vessel" ], [ "abnormality of vasculature of head", "abnormality of vasculature of head" ] ], "xref": [ "UMLS:C4073244" ], "is_a": [ "HP:0000234", "HP:0002597" ], "is_obsolete": "", "replace_id": "" }, "HP:3000037": { "name": [ "abnormality of neck blood vessel", "abnormality of neck blood vessel" ], "alt_id": [], "def": "An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.", "synonym": [ [ "abnormality of blood vessel of neck", "abnormality of blood vessel of neck" ], [ "abnormality of neck blood vessel", "abnormality of neck blood vessel" ], [ "abnormality of the cervical blood vessels", "abnormality of the cervical blood vessel" ], [ "abnormality of the cervical vasculature", "abnormality of the cervical vasculature" ], [ "abnormality of the vasculature of the neck", "abnormality of the vasculature of the neck" ] ], "xref": [ "UMLS:C4073245" ], "is_a": [ "HP:0000464", "HP:0002597" ], "is_obsolete": "", "replace_id": "" }, "HP:3000038": { "name": [ "abnormal cricoid cartilage morphology", "abnormal cricoid cartilage morphology" ], "alt_id": [], "def": "Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.", "synonym": [ [ "abnormality of cricoid cartilage", "abnormality of cricoid cartilage" ] ], "xref": [ "UMLS:C4073246" ], "is_a": [ "HP:0002763", "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:3000039": { "name": [ "abnormality of dorsal nasal artery", "abnormality of dorsal nasal artery" ], "alt_id": [], "def": "An abnormality of a dorsal nasal artery.", "synonym": [], "xref": [ "UMLS:C4073247" ], "is_a": [ "HP:0410006" ], "is_obsolete": "", "replace_id": "" }, "HP:3000040": { "name": [ "abnormality of ethmoid sinus", "abnormality of ethmoid sinus" ], "alt_id": [], "def": "An abnormality of an ethmoid sinus.", "synonym": [ [ "abnormality of ethmoidal air cells", "abnormality of ethmoidal air cell" ] ], "xref": [ "UMLS:C4073248" ], "is_a": [ "HP:0000245" ], "is_obsolete": "", "replace_id": "" }, "HP:3000041": { "name": [ "abnormality of external carotid artery", "abnormality of external carotid artery" ], "alt_id": [], "def": "An abnormality of an external carotid artery.", "synonym": [ [ "abnormality of carotid artery", "abnormality of carotid artery" ], [ "disorder of carotid artery", "disorder of carotid artery" ] ], "xref": [ "UMLS:C4073249" ], "is_a": [ "HP:0005344" ], "is_obsolete": "", "replace_id": "" }, "HP:3000042": { "name": [ "abnormal jugular vein morphology", "abnormal jugular vein morphology" ], "alt_id": [], "def": "Any structural abnormality of a jugular vein.", "synonym": [ [ "abnormality of jugular vein", "abnormality of jugular vein" ] ], "xref": [ "UMLS:C4073250" ], "is_a": [ "HP:0002624", "HP:3000037" ], "is_obsolete": "", "replace_id": "" }, "HP:3000043": { "name": [ "abnormal facial vein morphology", "abnormal facial vein morphology" ], "alt_id": [], "def": "An abnormality of a facial vein.", "synonym": [ [ "abnormal vein of face", "abnormal vein of face" ], [ "abnormality of facial vein", "abnormality of facial vein" ] ], "xref": [ "UMLS:C4073251" ], "is_a": [ "HP:0002624", "HP:3000036", "HP:3000037" ], "is_obsolete": "", "replace_id": "" }, "HP:3000044": { "name": [ "abnormality of frontal process of maxilla", "abnormality of frontal process of maxilla" ], "alt_id": [], "def": "An abnormality of a frontal process of the maxilla bone.", "synonym": [], "xref": [ "UMLS:C4073252" ], "is_a": [ "HP:0000326" ], "is_obsolete": "", "replace_id": "" }, "HP:3000045": { "name": [ "abnormality of genioglossus muscle", "abnormality of genioglossus muscle" ], "alt_id": [], "def": "An abnormality of a genioglossus muscle.", "synonym": [], "xref": [ "UMLS:C4073253" ], "is_a": [ "HP:0040174" ], "is_obsolete": "", "replace_id": "" }, "HP:3000046": { "name": [ "abnormality of geniohyoid muscle", "abnormality of geniohyoid muscle" ], "alt_id": [], "def": "An abnormality of a geniohyoid muscle.", "synonym": [], "xref": [ "UMLS:C4073254" ], "is_a": [ "HP:0011006" ], "is_obsolete": "", "replace_id": "" }, "HP:3000047": { "name": [ "abnormal glossopharyngeal nerve morphology", "abnormal glossopharyngeal nerve morphology" ], "alt_id": [], "def": "Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).", "synonym": [ [ "abnormality of glossopharyngeal nerve", "abnormality of glossopharyngeal nerve" ] ], "xref": [ "UMLS:C4073255" ], "is_a": [ "HP:0001291", "HP:0045010" ], "is_obsolete": "", "replace_id": "" }, "HP:3000048": { "name": [ "abnormal great auricular nerve morphology", "abnormal great auricular nerve morphology" ], "alt_id": [], "def": "Any structural anomaly of a great auricular nerve.", "synonym": [], "xref": [ "UMLS:C4073256" ], "is_a": [ "HP:0045010" ], "is_obsolete": "", "replace_id": "" }, "HP:3000049": { "name": [ "abnormal greater palatine artery morphology", "abnormal great palatine artery morphology" ], "alt_id": [], "def": "An abnormality of a greater palatine artery.", "synonym": [ [ "abnormality of greater palatine artery", "abnormality of great palatine artery" ] ], "xref": [ "UMLS:C4073257" ], "is_a": [ "HP:0011004" ], "is_obsolete": "", "replace_id": "" }, "HP:3000050": { "name": [ "abnormal odontoid tissue morphology", "abnormal odontoid tissue morphology" ], "alt_id": [], "def": "An abnormality of an odontoid tissue.", "synonym": [ [ "abnormality of hard tissues of teeth", "abnormality of hard tissue of teeth" ], [ "abnormality of odontoid tissue", "abnormality of odontoid tissue" ], [ "abnormality of tooth hard tissue", "abnormality of tooth hard tissue" ] ], "xref": [ "UMLS:C4073258" ], "is_a": [ "HP:0000924", "HP:0003549" ], "is_obsolete": "", "replace_id": "" }, "HP:3000051": { "name": [ "abnormal hyoglossus muscle morphology", "abnormal hyoglossus muscle morphology" ], "alt_id": [], "def": "An abnormality of a hyoglossus muscle.", "synonym": [ [ "abnormality of hyoglossus muscle", "abnormality of hyoglossus muscle" ] ], "xref": [ "UMLS:C4073259" ], "is_a": [ "HP:0011805", "HP:0030809" ], "is_obsolete": "", "replace_id": "" }, "HP:3000052": { "name": [ "abnormality of hyoid bone", "abnormality of hyoid bone" ], "alt_id": [], "def": "An abnormality of a hyoid bone.", "synonym": [], "xref": [ "UMLS:C4073260" ], "is_a": [ "HP:0011842" ], "is_obsolete": "", "replace_id": "" }, "HP:3000053": { "name": [ "abnormal hypopharynx morphology", "abnormal hypopharynx morphology" ], "alt_id": [], "def": "A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus.", "synonym": [ [ "abnormality of hypopharynx", "abnormality of hypopharynx" ], [ "abnormality of lower pharynx", "abnormality of low pharynx" ] ], "xref": [ "UMLS:C4073261" ], "is_a": [ "HP:0033151" ], "is_obsolete": "", "replace_id": "" }, "HP:3000054": { "name": [ "abnormality of inferior alveolar artery", "abnormality of inferior alveolar artery" ], "alt_id": [], "def": "An abnormality of an inferior alveolar artery.", "synonym": [], "xref": [ "UMLS:C4073262" ], "is_a": [ "HP:0031816", "HP:3000036" ], "is_obsolete": "", "replace_id": "" }, "HP:3000055": { "name": [ "abnormality of inferior alveolar nerve", "abnormality of inferior alveolar nerve" ], "alt_id": [], "def": "An abnormality of an inferior alveolar nerve.", "synonym": [], "xref": [ "UMLS:C4073263" ], "is_a": [ "HP:0001291", "HP:0045010" ], "is_obsolete": "", "replace_id": "" }, "HP:3000056": { "name": [ "abnormality of artery of lower lip", "abnormality of artery of low lip" ], "alt_id": [], "def": "An abnormality of an artery of lower lip.", "synonym": [ [ "abnormality of the inferior labial artery", "abnormality of the inferior labial artery" ] ], "xref": [ "UMLS:C4073264" ], "is_a": [ "HP:3000024" ], "is_obsolete": "", "replace_id": "" }, "HP:3000057": { "name": [ "abnormality of inferior oblique extraocular muscle", "abnormality of inferior oblique extraocular muscle" ], "alt_id": [], "def": "An abnormality of an inferior oblique extraocular muscle.", "synonym": [ [ "abnormality of the inferior oblique muscle", "abnormality of the inferior oblique muscle" ] ], "xref": [ "UMLS:C4073265" ], "is_a": [ "HP:0008049" ], "is_obsolete": "", "replace_id": "" }, "HP:3000058": { "name": [ "abnormality of inferior rectus extraocular muscle", "abnormality of inferior rectus extraocular muscle" ], "alt_id": [], "def": "An abnormality of an inferior rectus extraocular muscle.", "synonym": [], "xref": [ "UMLS:C4073266" ], "is_a": [ "HP:0008049" ], "is_obsolete": "", "replace_id": "" }, "HP:3000059": { "name": [ "abnormal inferior thyroid vein morphology", "abnormal inferior thyroid vein morphology" ], "alt_id": [], "def": "An abnormality of an inferior thyroid vein.", "synonym": [ [ "abnormality of inferior thyroid vein", "abnormality of inferior thyroid vein" ] ], "xref": [ "UMLS:C4073267" ], "is_a": [ "HP:0002624" ], "is_obsolete": "", "replace_id": "" }, "HP:3000060": { "name": [ "abnormality of infraorbital artery", "abnormality of infraorbital artery" ], "alt_id": [], "def": "An abnormality of an infraorbital artery.", "synonym": [], "xref": [ "UMLS:C4073268" ], "is_a": [ "HP:0002597" ], "is_obsolete": "", "replace_id": "" }, "HP:3000061": { "name": [ "abnormality of infra - orbital nerve", "abnormality of infra - orbital nerve" ], "alt_id": [], "def": "A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal.", "synonym": [ [ "abnormality of the infraorbital nerve", "abnormality of the infraorbital nerve" ] ], "xref": [ "UMLS:C4073269" ], "is_a": [ "HP:0010824" ], "is_obsolete": "", "replace_id": "" }, "HP:3000062": { "name": [ "abnormal internal carotid artery morphology", "abnormal internal carotid artery morphology" ], "alt_id": [], "def": "An abnormality of an internal carotid artery.", "synonym": [ [ "abnormality of internal carotid artery", "abnormality of internal carotid artery" ] ], "xref": [ "UMLS:C1860488" ], "is_a": [ "HP:0005344", "HP:3000036" ], "is_obsolete": "", "replace_id": "" }, "HP:3000063": { "name": [ "abnormality of internal jugular vein", "abnormality of internal jugular vein" ], "alt_id": [], "def": "An abnormality of an internal jugular vein.", "synonym": [], "xref": [ "UMLS:C4073270" ], "is_a": [ "HP:3000042" ], "is_obsolete": "", "replace_id": "" }, "HP:3000064": { "name": [ "abnormality of intrinsic muscle of tongue", "abnormality of intrinsic muscle of tongue" ], "alt_id": [], "def": "An abnormality of an intrinsic muscle of tongue.", "synonym": [ [ "abnormality of intrinsic lingual muscle", "abnormality of intrinsic lingual muscle" ] ], "xref": [ "UMLS:C4073271" ], "is_a": [ "HP:0040173" ], "is_obsolete": "", "replace_id": "" }, "HP:3000065": { "name": [ "abnormal lacrimal artery morphology", "abnormal lacrimal artery morphology" ], "alt_id": [], "def": "An abnormality of a lacrimal artery.", "synonym": [ [ "abnormality of lacrimal artery", "abnormality of lacrimal artery" ] ], "xref": [ "UMLS:C4073272" ], "is_a": [ "HP:0011004", "HP:3000036" ], "is_obsolete": "", "replace_id": "" }, "HP:3000066": { "name": [ "abnormal lacrimal sac morphology", "abnormal lacrimal sac morphology" ], "alt_id": [], "def": "An abnormality of a lacrimal sac.", "synonym": [ [ "abnormality of lacrimal sac", "abnormality of lacrimal sac" ] ], "xref": [ "UMLS:C4073273" ], "is_a": [ "HP:0000614" ], "is_obsolete": "", "replace_id": "" }, "HP:3000067": { "name": [ "abnormal lateral cricoarytenoid muscle morphology", "abnormal lateral cricoarytenoid muscle morphology" ], "alt_id": [], "def": "Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway.", "synonym": [ [ "abnormal anterior cricoarytenoid muscle morphology", "abnormal anterior cricoarytenoid muscle morphology" ], [ "abnormality of lateral crico - arytenoid", "abnormality of lateral crico - arytenoid" ], [ "abnormality of lateral cricoarytenoid muscle", "abnormality of lateral cricoarytenoid muscle" ] ], "xref": [ "UMLS:C4073274" ], "is_a": [ "HP:0000464", "HP:0011805", "HP:0025423" ], "is_obsolete": "", "replace_id": "" }, "HP:3000068": { "name": [ "abnormality of lateral pterygoid muscle", "abnormality of lateral pterygoid muscle" ], "alt_id": [], "def": "An abnormality of a lateral pterygoid muscle.", "synonym": [], "xref": [ "UMLS:C4073275" ], "is_a": [ "HP:0410011" ], "is_obsolete": "", "replace_id": "" }, "HP:3000069": { "name": [ "abnormality of lateral rectus extra - ocular muscle", "abnormality of lateral rectus extra - ocular muscle" ], "alt_id": [], "def": "An abnormality of a lateral rectus extra-ocular muscle.", "synonym": [], "xref": [ "UMLS:C4073276" ], "is_a": [ "HP:0008049" ], "is_obsolete": "", "replace_id": "" }, "HP:3000070": { "name": [ "abnormality of levator anguli oris", "abnormality of levator anguli oris" ], "alt_id": [], "def": "An abnormality of a levator anguli oris.", "synonym": [], "xref": [ "UMLS:C4073277" ], "is_a": [ "HP:0430019" ], "is_obsolete": "", "replace_id": "" }, "HP:3000071": { "name": [ "abnormality of levator labii superioris", "abnormality of levator labii superioris" ], "alt_id": [], "def": "An abnormality of a levator labii superioris.", "synonym": [], "xref": [ "UMLS:C4073278" ], "is_a": [ "HP:0430019" ], "is_obsolete": "", "replace_id": "" }, "HP:3000072": { "name": [ "abnormal levator palpebrae superioris morphology", "abnormal levator palpebrae superioris morphology" ], "alt_id": [], "def": "An abnormality of a levator palpebrae superioris.", "synonym": [], "xref": [ "UMLS:C4073279" ], "is_a": [ "HP:0000492", "HP:0008049" ], "is_obsolete": "", "replace_id": "" }, "HP:3000073": { "name": [ "abnormality of levator veli palatini muscle", "abnormality of levator veli palatini muscle" ], "alt_id": [], "def": "An abnormality of a levator veli palatini.", "synonym": [], "xref": [ "UMLS:C4073280" ], "is_a": [ "HP:0430014" ], "is_obsolete": "", "replace_id": "" }, "HP:3000074": { "name": [ "abnormal lingual artery morphology", "abnormal lingual artery morphology" ], "alt_id": [], "def": "Any structural abnormality of a lingual artery.", "synonym": [ [ "abnormality of lingual artery", "abnormality of lingual artery" ] ], "xref": [ "UMLS:C4073281" ], "is_a": [ "HP:0011004", "HP:0030809", "HP:3000036" ], "is_obsolete": "", "replace_id": "" }, "HP:3000075": { "name": [ "abnormal lingual nerve morphology", "abnormal lingual nerve morphology" ], "alt_id": [], "def": "Any structural anomaly of a lingual nerve.", "synonym": [ [ "abnormality of lingual nerve", "abnormality of lingual nerve" ] ], "xref": [ "UMLS:C4073282" ], "is_a": [ "HP:0045010" ], "is_obsolete": "", "replace_id": "" }, "HP:3000076": { "name": [ "abnormality of lingual tonsil", "abnormality of lingual tonsil" ], "alt_id": [], "def": "An abnormality of a lingual tonsil.", "synonym": [], "xref": [ "UMLS:C4073283" ], "is_a": [ "HP:0030809", "HP:0100765" ], "is_obsolete": "", "replace_id": "" }, "HP:3000077": { "name": [ "abnormal mandible condylar process morphology", "abnormal mandible condylar process morphology" ], "alt_id": [], "def": "An abnormality of a mandible condylar process.", "synonym": [ [ "abnormality of mandible condylar process", "abnormality of mandible condylar process" ] ], "xref": [ "UMLS:C4073284" ], "is_a": [ "HP:0000277", "HP:0031816" ], "is_obsolete": "", "replace_id": "" }, "HP:3000078": { "name": [ "abnormal mandible coronoid process morphology", "abnormal mandible coronoid process morphology" ], "alt_id": [], "def": "An abnormality of a mandible coronoid process.", "synonym": [ [ "abnormality of mandible coronoid process", "abnormality of mandible coronoid process" ] ], "xref": [ "UMLS:C4073285" ], "is_a": [ "HP:0000277", "HP:0031816" ], "is_obsolete": "", "replace_id": "" }, "HP:3000079": { "name": [ "abnormal mandibular symphysis morphology", "abnormal mandibular symphysis morphology" ], "alt_id": [], "def": "A structural abnormality of a mandibular symphysis.", "synonym": [ [ "abnormality of mandible symphysis", "abnormality of mandible symphysis" ] ], "xref": [ "UMLS:C4073286" ], "is_a": [ "HP:0001367", "HP:0031816" ], "is_obsolete": "", "replace_id": "" }, "HP:4000001": { "name": [ "abnormal cardiac magnetic resonance imaging finding", "abnormal cardiac magnetic resonance imaging find" ], "alt_id": [], "def": "Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately.", "synonym": [], "xref": [], "is_a": [ "HP:0001627" ], "is_obsolete": "", "replace_id": "" }, "HP:4000003": { "name": [ "elevated myocardial native t2", "elevate myocardial native t2" ], "alt_id": [], "def": "Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema.", "synonym": [], "xref": [], "is_a": [ "HP:4000001" ], "is_obsolete": "", "replace_id": "" }, "HP:4000004": { "name": [ "myocardial late gadolinium enhancement", "myocardial late gadolinium enhancement" ], "alt_id": [], "def": "Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium.", "synonym": [ [ "delayed myocardial gadolinium enhancement", "delay myocardial gadolinium enhancement" ] ], "xref": [], "is_a": [ "HP:4000001" ], "is_obsolete": "", "replace_id": "" }, "HP:4000005": { "name": [ "pericardial late gadolinium enhancement", "pericardial late gadolinium enhancement" ], "alt_id": [], "def": "Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium.", "synonym": [], "xref": [], "is_a": [ "HP:0001697" ], "is_obsolete": "", "replace_id": "" }, "HP:4000006": { "name": [ "elevated myocardial native t1", "elevate myocardial native t1" ], "alt_id": [], "def": "Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity.", "synonym": [ [ "prolonged myocardial native t1", "prolong myocardial native t1" ] ], "xref": [], "is_a": [ "HP:4000001" ], "is_obsolete": "", "replace_id": "" }, "HP:4000007": { "name": [ "bronchoconstriction", "bronchoconstriction" ], "alt_id": [], "def": "Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath.", "synonym": [ [ "bronchial constriction", "bronchial constriction" ], [ "constriction of the bronchi", "constriction of the bronchus" ] ], "xref": [], "is_a": [ "HP:0025427" ], "is_obsolete": "", "replace_id": "" }, "HP:4000008": { "name": [ "formation of multiple pronuclei during fertilization", "formation of multiple pronucleus during fertilization" ], "alt_id": [], "def": "Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI.", "synonym": [], "xref": [], "is_a": [ "HP:0033335" ], "is_obsolete": "", "replace_id": "" }, "HP:4000009": { "name": [ "kinesiophobia", "kinesiophobia" ], "alt_id": [], "def": "An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury.", "synonym": [], "xref": [], "is_a": [ "HP:0000708" ], "is_obsolete": "", "replace_id": "" }, "HP:4000010": { "name": [ "impaired renal tubular reabsorption of bicarbonate", "impaired renal tubular reabsorption of bicarbonate" ], "alt_id": [], "def": "Decreased renal tubular reabsorption of bicarbonate.", "synonym": [], "xref": [], "is_a": [ "HP:0011038" ], "is_obsolete": "", "replace_id": "" }, "HP:4000011": { "name": [ "history of congenital hpv infection", "history of congenital hpv infection" ], "alt_id": [], "def": "A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn.", "synonym": [], "xref": [], "is_a": [ "HP:0033623" ], "is_obsolete": "", "replace_id": "" }, "HP:4000012": { "name": [ "necrotizing ileitis", "necrotizing ileitis" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0032564" ], "is_obsolete": "", "replace_id": "" }, "HP:4000013": { "name": [ "anti - desmoglein - 1 antibody positivity", "anti - desmoglein - 1 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:4000014": { "name": [ "anti - desmoglein - 3 antibody positivity", "anti - desmoglein - 3 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:4000015": { "name": [ "anti - envoplakin antibody positivity", "anti - envoplakin antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:4000016": { "name": [ "anti - periplakin antibody positivity", "anti - periplakin antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:4000017": { "name": [ "anti - desmoplakin i antibody positivity", "anti - desmoplakin i antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:4000018": { "name": [ "anti - desmoplakin ii antibody positivity", "anti - desmoplakin ii antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:4000019": { "name": [ "anti - bp230 antibody positivity", "anti - bp230 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against BP230.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:4000020": { "name": [ "anti - bp180 antibody positivity", "anti - bp180 antibody positivity" ], "alt_id": [], "def": "Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:4000021": { "name": [ "anti - laminin 332 antibody positivity", "anti - laminin 332 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332.", "synonym": [ [ "anti - laminin 5 antibody positivity", "anti - laminin 5 antibody positivity" ] ], "xref": [], "is_a": [ "HP:4000024" ], "is_obsolete": "", "replace_id": "" }, "HP:4000022": { "name": [ "anti - laminin 6 antibody positivity", "anti - laminin 6 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6.", "synonym": [], "xref": [], "is_a": [ "HP:4000024" ], "is_obsolete": "", "replace_id": "" }, "HP:4000023": { "name": [ "anti - laminin gamma1 antibody positivity", "anti - laminin gamma1 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1.", "synonym": [], "xref": [], "is_a": [ "HP:4000024" ], "is_obsolete": "", "replace_id": "" }, "HP:4000024": { "name": [ "anti - laminin antibody positivity", "anti - laminin antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:4000025": { "name": [ "anti - integrin antibody positivity", "anti - integrin antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:4000026": { "name": [ "anti - transglutaminase 6 antibody", "anti - transglutaminase 6 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6.", "synonym": [], "xref": [], "is_a": [ "HP:0033563" ], "is_obsolete": "", "replace_id": "" }, "HP:4000027": { "name": [ "anti - lad - 1 antibody positivity", "anti - lad - 1 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:4000028": { "name": [ "anti - labd97 antibody positivity", "anti - labd97 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:4000029": { "name": [ "antigliadin antibody positivity", "antigliadin antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin.", "synonym": [ [ "aga autoantibodies", "aga autoantibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:4000030": { "name": [ "anti - reticulin antibody positivity", "anti - reticulin antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:4000031": { "name": [ "anti - type vii collagen antibody", "anti - type vii collagen antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:4000032": { "name": [ "false perception of self - motion", "false perception of self - motion" ], "alt_id": [], "def": "A perception that one's body is moving or swaying despite lack of motion of the body.", "synonym": [], "xref": [], "is_a": [ "HP:0001751" ], "is_obsolete": "", "replace_id": "" }, "HP:4000033": { "name": [ "non - spinning vertigo", "non - spinning vertigo" ], "alt_id": [], "def": "A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving).", "synonym": [], "xref": [], "is_a": [ "HP:0001751" ], "is_obsolete": "", "replace_id": "" }, "HP:4000034": { "name": [ "infection - ssociated lymphopenia", "infection - ssociated lymphopenia" ], "alt_id": [], "def": "Decreased lymphocyte count during infections.", "synonym": [ [ "infection - ssociated lymphocytopenia", "infection - ssociated lymphocytopenia" ] ], "xref": [], "is_a": [ "HP:0040088" ], "is_obsolete": "", "replace_id": "" }, "HP:4000035": { "name": [ "primary obstructive megaureter", "primary obstructive megaureter" ], "alt_id": [], "def": "Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction.", "synonym": [], "xref": [], "is_a": [ "HP:0000072" ], "is_obsolete": "", "replace_id": "" }, "HP:4000036": { "name": [ "encysted hydrocele of the cord", "encysted hydrocele of the cord" ], "alt_id": [], "def": "A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it.", "synonym": [], "xref": [], "is_a": [ "HP:0000034" ], "is_obsolete": "", "replace_id": "" }, "HP:4000037": { "name": [ "congenital hydrocele", "congenital hydrocele" ], "alt_id": [], "def": "Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through.", "synonym": [], "xref": [], "is_a": [ "HP:0000034" ], "is_obsolete": "", "replace_id": "" }, "HP:4000038": { "name": [ "infantile hydrocele", "infantile hydrocele" ], "alt_id": [], "def": "Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation.", "synonym": [], "xref": [], "is_a": [ "HP:0000034" ], "is_obsolete": "", "replace_id": "" }, "HP:4000039": { "name": [ "reduced proportion of mucosal - associated invariant t cells", "reduce proportion of mucosal - associate invariant t cell" ], "alt_id": [], "def": "A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count.", "synonym": [], "xref": [], "is_a": [ "HP:0025540" ], "is_obsolete": "", "replace_id": "" }, "HP:4000040": { "name": [ "puerpural onset", "puerpural onset" ], "alt_id": [], "def": "Onset of a phenotypic abnormality or a disease during childbirth or in the period immediately following.", "synonym": [], "xref": [], "is_a": [ "HP:0003674" ], "is_obsolete": "", "replace_id": "" }, "HP:4000041": { "name": [ "aa amyloidosis", "aa amyloidosis" ], "alt_id": [], "def": "Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant.", "synonym": [], "xref": [], "is_a": [ "HP:0011034" ], "is_obsolete": "", "replace_id": "" }, "HP:4000042": { "name": [ "fracture type", "fracture type" ], "alt_id": [], "def": "Category of fracture. Terms from this subontology can be used together with terms in the subontology that descends from Bone fracture (HP:0020110).", "synonym": [], "xref": [], "is_a": [ "HP:0012823" ], "is_obsolete": "", "replace_id": "" }, "HP:4000043": { "name": [ "greenstick fracture", "greenstick fracture" ], "alt_id": [], "def": "A type of fracture in which the broken bone is not completely separated.", "synonym": [ [ "incomplete fracture", "incomplete fracture" ] ], "xref": [], "is_a": [ "HP:4000042" ], "is_obsolete": "", "replace_id": "" }, "HP:4000044": { "name": [ "transverse fracture", "transverse fracture" ], "alt_id": [], "def": "A type of fracture in which the break is in a straight line across the bone.", "synonym": [], "xref": [], "is_a": [ "HP:4000042" ], "is_obsolete": "", "replace_id": "" }, "HP:4000045": { "name": [ "spiral fracture", "spiral fracture" ], "alt_id": [], "def": "A type of fracture in which the break spirals around the bone.", "synonym": [], "xref": [], "is_a": [ "HP:4000042" ], "is_obsolete": "", "replace_id": "" }, "HP:4000046": { "name": [ "oblique fracture", "oblique fracture" ], "alt_id": [], "def": "A type of fracture in which there is a diagonal break across the bone.", "synonym": [], "xref": [], "is_a": [ "HP:4000042" ], "is_obsolete": "", "replace_id": "" }, "HP:4000047": { "name": [ "compression fracture", "compression fracture" ], "alt_id": [], "def": "A type of fracture in which the bone is crushed, causing the broken bone to be wider or flatter in appearance.", "synonym": [ [ "wedge fracture", "wedge fracture" ] ], "xref": [], "is_a": [ "HP:4000042" ], "is_obsolete": "", "replace_id": "" }, "HP:4000048": { "name": [ "comminuted fracture", "comminute fracture" ], "alt_id": [], "def": "A type of fracture in which the break is in three or more pieces and fragments are present at the fracture site.", "synonym": [], "xref": [], "is_a": [ "HP:4000042" ], "is_obsolete": "", "replace_id": "" }, "HP:4000049": { "name": [ "segmental fracture", "segmental fracture" ], "alt_id": [], "def": "A type of fracture in which the same bone is fractured in two places, so there is a floating segment of bone.", "synonym": [], "xref": [], "is_a": [ "HP:4000042" ], "is_obsolete": "", "replace_id": "" }, "HP:4000050": { "name": [ "open fracture", "open fracture" ], "alt_id": [], "def": "A type of fracture in which there is an open wound or break in the skin near the site of the broken bone.", "synonym": [ [ "compound fracture", "compound fracture" ] ], "xref": [], "is_a": [ "HP:4000042" ], "is_obsolete": "", "replace_id": "" }, "HP:4000051": { "name": [ "closed fracture", "closed fracture" ], "alt_id": [], "def": "A type of fracture in which the broken bone that does not penetrate the skin.", "synonym": [], "xref": [], "is_a": [ "HP:4000042" ], "is_obsolete": "", "replace_id": "" }, "HP:4000052": { "name": [ "avulsion fracture", "avulsion fracture" ], "alt_id": [], "def": "A type of fracture that is localied near to a a tendon or ligament and a small fragment of bone is separated from the main mass of bone as a result of physical trauma.", "synonym": [], "xref": [], "is_a": [ "HP:4000042" ], "is_obsolete": "", "replace_id": "" }, "HP:4000053": { "name": [ "displaced fracture", "displaced fracture" ], "alt_id": [], "def": "A type of fracture in which the ends of the fractured bone are no longer aligned.", "synonym": [], "xref": [], "is_a": [ "HP:4000042" ], "is_obsolete": "", "replace_id": "" }, "HP:4000054": { "name": [ "exanthem", "exanthem" ], "alt_id": [], "def": "A widespread rash.", "synonym": [], "xref": [], "is_a": [ "HP:0000988" ], "is_obsolete": "", "replace_id": "" }, "HP:4000055": { "name": [ "intestinal inflammation", "intestinal inflammation" ], "alt_id": [], "def": "A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract.", "synonym": [], "xref": [], "is_a": [ "HP:0004386" ], "is_obsolete": "", "replace_id": "" }, "HP:4000056": { "name": [ "abnormal apoptosis", "abnormal apoptosis" ], "alt_id": [], "def": "Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response.", "synonym": [], "xref": [], "is_a": [ "HP:0011017" ], "is_obsolete": "", "replace_id": "" }, "HP:4000057": { "name": [ "decreased fasl - mediated apoptosis", "decrease fasl - mediate apoptosis" ], "alt_id": [], "def": "A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis.", "synonym": [], "xref": [], "is_a": [ "HP:4000056" ], "is_obsolete": "", "replace_id": "" }, "HP:4000058": { "name": [ "glomerular proteinuria", "glomerular proteinuria" ], "alt_id": [], "def": "A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. \\nPMID: 19634399", "synonym": [], "xref": [], "is_a": [ "HP:0000093" ], "is_obsolete": "", "replace_id": "" }, "HP:4000059": { "name": [ "abnormal lung development", "abnormal lung development" ], "alt_id": [], "def": "A structural defect associated with abnormal development of the lung.", "synonym": [ [ "developmental pulmonary anomaly", "developmental pulmonary anomaly" ] ], "xref": [], "is_a": [ "HP:0002088" ], "is_obsolete": "", "replace_id": "" }, "HP:4000060": { "name": [ "abnormal pulmonary alveolar system development", "abnormal pulmonary alveolar system development" ], "alt_id": [], "def": "", "synonym": [], "xref": [], "is_a": [ "HP:0033137", "HP:4000059" ], "is_obsolete": "", "replace_id": "" }, "HP:4000061": { "name": [ "pancreatic alpha - cell hyperplasia", "pancreatic alpha - cell hyperplasia" ], "alt_id": [], "def": "A diffuse and specific increase in the number of alpha-cells.", "synonym": [], "xref": [], "is_a": [ "HP:0004510" ], "is_obsolete": "", "replace_id": "" }, "HP:4000062": { "name": [ "3 - 4 metacarpal synostosis", "3 - 4 metacarpal synostosis" ], "alt_id": [], "def": "A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers).", "synonym": [ [ "fused third and fourth metacarpals", "fused third and fourth metacarpal" ], [ "middle and ring finger metacarpal synostosis", "middle and ring finger metacarpal synostosis" ], [ "synostosis of third and the fourth metacarpal bones", "synostosis of third and the fourth metacarpal bone" ] ], "xref": [], "is_a": [ "HP:0009706", "HP:0009707" ], "is_obsolete": "", "replace_id": "" }, "HP:5000000": { "name": [ "anti - ak5 antibody positivity", "anti - ak5 antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5).", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000001": { "name": [ "anti - ampar antibody positivity", "anti - ampar antibody positivity" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR).", "synonym": [ [ "anti - alpha - amino - 3 - hydroxy - 5 - methyl - 4 - isoxazolepropionic acid receptor antibody", "anti - alpha - amino - 3 - hydroxy - 5 - methyl - 4 - isoxazolepropionic acid receptor antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000002": { "name": [ "anti - amphiphysin antibody", "anti - amphiphysin antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000003": { "name": [ "anti - arhgap26 antibody", "anti - arhgap26 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26).", "synonym": [ [ "anti - ca antibody", "anti - ca antibody" ], [ "anti - rhogtpase - activating protein 26 antibody", "anti - rhogtpase - activate protein 26 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000004": { "name": [ "anti - carp viii antibody", "anti - carp viii antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII).", "synonym": [ [ "anti carpviii antibody", "anti carpviii antibody" ], [ "anti - carbonic anhydrase - related protein viii antibody", "anti - carbonic anhydrase - related protein viii antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000005": { "name": [ "anti - caspr2", "anti - caspr2" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2).", "synonym": [ [ "anti - caspr2 antibody", "anti - caspr2 antibody" ], [ "anti - contactin - associated protein - like 2 antibody", "anti - contactin - associate protein - like 2 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000006": { "name": [ "anti - cv2 / crmp5 antibody", "anti - cv2 / crmp5 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum.", "synonym": [ [ "anti - cv2 antibody", "anti - cv2 antibody" ], [ "anti - cv2 / collapsin response mediator protein ( crmp ) 5 antibody", "anti - cv2 / collapsin response mediator protein ( crmp ) 5 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000007": { "name": [ "anti - dppx antibody", "anti - dppx antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX).", "synonym": [ [ "anti - dipeptidyl - peptidase - like protein 6 antibody", "anti - dipeptidyl - peptidase - like protein 6 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000008": { "name": [ "anti - fgfr3 antibody", "anti - fgfr3 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3.", "synonym": [ [ "anti - fibroblast growth factor receptor 3 antibody", "anti - fibroblast growth factor receptor 3 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000009": { "name": [ "anti - gaba ( a ) r antibody", "anti - gaba ( a ) r antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R.", "synonym": [ [ "anti - gabaa r antibody", "anti - gabaa r antibody" ], [ "anti - gamma amino butyric acid type a receptors antibody", "anti - gamma amino butyric acid type a receptor antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000010": { "name": [ "anti - gaba ( b ) r antibody", "anti - gaba ( b ) r antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R.", "synonym": [ [ "anti - gamma - aminobutyric acid b receptor antibody", "anti - gamma - aminobutyric acid b receptor antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000011": { "name": [ "anti - gad65 antibody", "anti - gad65 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65).", "synonym": [ [ "anti - glutamic acid decarboxylase 65 antibody", "anti - glutamic acid decarboxylase 65 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000012": { "name": [ "anti - gephyrin antibody", "anti - gephyrin antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000013": { "name": [ "anti - gfap antibody", "anti - gfap antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP).", "synonym": [ [ "anti - glial fibrillary acidic protein antibody", "anti - glial fibrillary acidic protein antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000014": { "name": [ "anti - glyr antibody", "anti - glyr antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR).", "synonym": [ [ "anti - glycine receptor antibody", "anti - glycine receptor antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000015": { "name": [ "anti - homer - 3 antibody", "anti - homer - 3 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3.", "synonym": [ [ "anti - homer protein homolog 3 antibody", "anti - homer protein homolog 3 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000016": { "name": [ "anti - hu antibody", "anti - hu antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu.", "synonym": [ [ "anti - anna - 1 antibody", "anti - anna - 1 antibody" ], [ "anti - neuronal nuclear antibody type - 1 antibody", "anti - neuronal nuclear antibody type - 1 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000017": { "name": [ "anti - iglon5 antibody", "anti - iglon5 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5).", "synonym": [ [ "anti - immunoglobulin - like cell adhesion molecule 5 antibody", "anti - immunoglobulin - like cell adhesion molecule 5 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000018": { "name": [ "anti - itpr1 antibody", "anti - itpr1 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1).", "synonym": [ [ "anti - inositol 1,4,5 - trisphosphate receptor type 1 antibody", "anti - inositol 1,4,5 - trisphosphate receptor type 1 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000019": { "name": [ "anti - klhl11 antibody", "anti - klhl11 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11).", "synonym": [ [ "anti - kelch - like protein 11 antibody", "anti - kelch - like protein 11 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000020": { "name": [ "anti - lgi1 antibody", "anti - lgi1 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1).", "synonym": [ [ "anti - anti - leucine - rich glioma - inactivated 1 antibody", "anti - anti - leucine - rich glioma - inactivated 1 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000021": { "name": [ "anti - ma antibody", "anti - ma antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000022": { "name": [ "anti - ma2 antibody", "anti - ma2 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2.", "synonym": [ [ "anti - ta antibody", "anti - ta antibody" ] ], "xref": [], "is_a": [ "HP:5000021" ], "is_obsolete": "", "replace_id": "" }, "HP:5000023": { "name": [ "anti - ma1 antibody", "anti - ma1 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1.", "synonym": [], "xref": [], "is_a": [ "HP:5000021" ], "is_obsolete": "", "replace_id": "" }, "HP:5000024": { "name": [ "anti - mglur1 antibody", "anti - mglur1 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1).", "synonym": [ [ "anti - metabotropic glutamate receptor 1 antibody", "anti - metabotropic glutamate receptor 1 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000025": { "name": [ "anti - mglur5 antibody", "anti - mglur5 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5).", "synonym": [ [ "anti - metabotropic glutamate receptor type 5 antibody", "anti - metabotropic glutamate receptor type 5 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000026": { "name": [ "anti - neurexin - 3alpha antibody", "anti - neurexin - 3alpha antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha.", "synonym": [ [ "anti - neurexin - 3alpha antibody", "anti - neurexin - 3alpha antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000027": { "name": [ "anti - p / q - type vgcc antibody", "anti - p / q - type vgcc antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs).", "synonym": [ [ "anti - p / q - type voltage - gated calcium - channel antibody", "anti - p / q - type voltage - gated calcium - channel antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000028": { "name": [ "anti - map1b antibody", "anti - map1b antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B).", "synonym": [ [ "anti - microtubule - associated protein 1b antibody", "anti - microtubule - associate protein 1b antibody" ], [ "anti - purkinje cell cytoplasmic type - 2 antibody", "anti - purkinje cell cytoplasmic type - 2 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000029": { "name": [ "anti - pkcgamma antibody", "anti - pkcgamma antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma.", "synonym": [ [ "anti - protein kinase c gamma antibody", "anti - protein kinase c gamma antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000030": { "name": [ "anti - ri antibody", "anti - ri antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, ,an antineuronal antibody.", "synonym": [ [ "anti - anna - 2 antibody", "anti - anna - 2 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000031": { "name": [ "anti - septin - 5 antibody", "anti - septin - 5 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000032": { "name": [ "anti - sez6l2 antibody", "anti - sez6l2 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2).", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000033": { "name": [ "anti - sox1 antibody", "anti - sox1 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells.", "synonym": [ [ "anti - sry - like high mobility group box ( sox ) 1 antibody", "anti - sry - like high mobility group box ( sox ) 1 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000034": { "name": [ "anti - tr / dner antibody", "anti - tr / dner antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr.", "synonym": [ [ "anti - delta / notch - like epidermal growth factor - related receptor antibody", "anti - delta / notch - like epidermal growth factor - related receptor antibody" ], [ "pca - tr", "pca - tr" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000035": { "name": [ "anti - trim46 antibody", "anti - trim46 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46).", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000036": { "name": [ "anti - trim9 / trim67 antibody", "anti - trim9 / trim67 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000037": { "name": [ "anti - yo antibody", "anti - yo antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo.", "synonym": [ [ "anti - purkinje cell cytoplasmic antibody 1", "anti - purkinje cell cytoplasmic antibody 1" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000038": { "name": [ "anti - titin antibody", "anti - titin antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000039": { "name": [ "anti - zic4 antibody", "anti - zic4 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4).", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000041": { "name": [ "anti - crmp5 antibody", "anti - crmp5 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against collapsin response-mediated protein 5 (CRMP5).", "synonym": [ [ "anti - collapsin response - mediated protein 5 antibody", "anti - collapsin response - mediate protein 5 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000042": { "name": [ "anti - sj / itpr1 antibody", "anti - sj / itpr1 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor.", "synonym": [ [ "anti - sj / inositol 1,4,5 - trisphosphate receptor antibody", "anti - sj / inositol 1,4,5 - trisphosphate receptor antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000043": { "name": [ "anti - d2 r antibody", "anti - d2 r antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor.", "synonym": [ [ "anti - dopamine - 2 receptors ( d2r ) antibody", "anti - dopamine - 2 receptor ( d2r ) antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000044": { "name": [ "anti - gluk2 antibody", "anti - gluk2 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2).", "synonym": [ [ "anti - glutamate kainate receptor subunit 2 antibody", "anti - glutamate kainate receptor subunit 2 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000045": { "name": [ "anti - musk antibody", "anti - musk antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against muscle-specific tyrosine kinase (MuSK).", "synonym": [ [ "anti - anti - muscle - specific tyrosine kinase antibody", "anti - anti - muscle - specific tyrosine kinase antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000046": { "name": [ "anti - lrp4 antibody", "anti - lrp4 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4).", "synonym": [ [ "anti - low - density lipoprotein receptor - related protein 4 antibody", "anti - low - density lipoprotein receptor - related protein 4 antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000047": { "name": [ "anti - ryanodine receptor antibody", "anti - ryanodine receptor antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor.", "synonym": [ [ "anti - ryr antibody", "anti - ryr antibody" ] ], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" }, "HP:5000048": { "name": [ "anti - kv1.4 antibody", "anti - kv1.4 antibody" ], "alt_id": [], "def": "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4.", "synonym": [], "xref": [], "is_a": [ "HP:0030057" ], "is_obsolete": "", "replace_id": "" } }